Journal of Personalized Medicine doi: 10.3390/jpm14040367
Authors: William A. Schiavone David S. Majdalany
The electrocardiogram is the first test that is undertaken when evaluating a patient’s heart. Diagnosing congenital heart disease in an adult (ACHD) can be facilitated by knowing the classical electrocardiographic (EKG) findings. These EKG findings often result from the congenital defect that prevents a part of the cardiac conduction system from occupying its normal anatomic position. When these classical EKG findings are not present, the clinician should consider alternate diagnoses. As the patient with congenital heart disease ages, with native anatomy or after surgical or device repair, the EKG can be used to assess the patient’s status and to decide if and when treatment requires adjustment. This is because the electrocardiogram (EKG) can diagnose the hypertrophy or enlargement in a cardiac chamber that results from the congenital defect or anomaly and can diagnose an arrhythmia that might compromise an otherwise stable anatomy. While ACHD often involves intracardiac shunting, in many cases the abnormality only involves cardiac electrical conduction block or ventricular repolarization. These life-threatening diseases can be diagnosed with an EKG. This review will demonstrate and explain how the EKG can be used to diagnose and follow adults with congenital heart disease. When coupled with history and physical examination, the value of the EKG in ACHD will be apparent. A diagnosis can then be made or a differential diagnosis proposed, before an imaging study is ordered.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040368
Authors: Alexey V. Yaremenko Nadezhda A. Pechnikova Konstantinos Porpodis Savvas Damdoumis Amalia Aggeli Papamitsou Theodora Kalliopi Domvri
Fetal lung development is a crucial and complex process that lays the groundwork for postnatal respiratory health. However, disruptions in this delicate developmental journey can lead to fetal lung development disorders, impacting neonatal outcomes and potentially influencing health outcomes well into adulthood. Recent research has shed light on the intriguing association between fetal lung development disorders and the development of adult diseases. Understanding these links can provide valuable insights into the developmental origins of health and disease, paving the way for targeted preventive measures and clinical interventions. This review article aims to comprehensively explore the association of fetal lung development disorders with adult diseases. We delve into the stages of fetal lung development, examining key factors influencing fetal lung maturation. Subsequently, we investigate specific fetal lung development disorders, such as respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), congenital diaphragmatic hernia (CDH), and other abnormalities. Furthermore, we explore the potential mechanisms underlying these associations, considering the role of epigenetic modifications, transgenerational effects, and intrauterine environmental factors. Additionally, we examine the epidemiological evidence and clinical findings linking fetal lung development disorders to adult respiratory diseases, including asthma, chronic obstructive pulmonary disease (COPD), and other respiratory ailments. This review provides valuable insights for healthcare professionals and researchers, guiding future investigations and shaping strategies for preventive interventions and long-term care.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040366
Authors: Miruna Gug Adrian Rațiu Nicoleta Andreescu Simona Farcaș Sorina Laitin Cristina Gug
This study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology encompassed the analysis of 1400 consecutive cases from a single genetic center in western Romania, where NIPT was used to assess the risk of specific fetal chromosomal abnormalities. All high-risk cases underwent validation through direct analysis of fetal cells obtained via invasive methods, including chorionic villus sampling and amniocentesis. The confirmation process utilized QF-PCR, karyotyping, and SNP-Array methods customized to each case. Results: A high risk of aneuploidy at NIPT was identified in 36 out of 1400 (2.57%) cases and confirmed in 28 cases. The study also detected an increased risk for copy number variations (CNVs) in 1% of cases, confirmed in two instances involving one large microdeletion and one large microduplication. Trisomy 21 was the exclusive anomaly where NIPT confirmed all cases with identified risk. High-risk NIPT results which were not validated by invasive methods, were classified as false positives; parents in these cases determined to continue the pregnancy. In conclusion, NIPT can serve as a screening method for all pregnancies; however, in high-risk cases, an invasive confirmation test is strongly recommended.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040365
Authors: Fabio Corvino Francesco Giurazza Paolo Marra Anna Maria Ierardi Antonio Corvino Antonio Basile Massimo Galia Agostino Inzerillo Raffaella Niola
The liver is the second most common solid organ injured in blunt and penetrating abdominal trauma. Non-operative management (NOM) has become the standard of care for liver injuries in stable patients, where transarterial embolization (TAE) represents the main treatment, increasing success rates and avoiding invasive surgical procedures. In hemodynamically (HD) unstable patients, operative management (OM) is the standard of care. To date, there are no consensus guidelines about the endovascular treatment of patients with HD instability or in ones that responded to initial infusion therapy. A review of the literature was performed for published papers addressing the outcome of using TAE as the primary treatment for HD unstable/transient responder trauma liver patients with hemorrhagic vascular lesions, both as a single treatment and in combination with surgical treatment, focusing additionally on the different definitions used in the literature of unstable and transient responder patients. Our review demonstrated a good outcome in HD unstable/transient responder liver trauma patients treated with TAE but there still remains much debate about the definition of unstable and transient responder patients.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040364
Authors: Hedwig Roggendorf Daniel Shouval Michael Roggendorf Guido Gerken
Several antiviral treatment regimens for chronic hepatitis B (CHB) virus infection have been shown to be effective in suppressing viral load and reducing the risk of hepatocellular injury and its complications. It has been hypothesized that high levels of circulating HBV surface antigen(s) may lead to immune tolerance against HBV and contribute to chronic carriership. Conversely, low-level HBsAg may create a window for the reconstitution of an HBV-specific immune response through vaccination and control of infection. Previous studies in non-responders to yeast-derived HBV vaccines, using a third-generation pre-S/S vaccine, have led to up to 95% anti-HBs seroconversion. This report evaluates the long-term outcome after experimental vaccination with a pre-S/S HBV vaccine intended as a therapeutic intervention in chronic HBV carriers. Four low-level HBsAg carriers (<500 IU/mL) were vaccinated three to seven times with 20 μg PreHevbrioR. Three out of four carriers eliminated HBsAg completely and seroconverted to anti-HBs. One patient seroconverted to anti-HBs but remained with a borderline HBsAg titer (10 IU/mL). Serum anti-HBs levels following repeated vaccination varied between 27 and >1000 IU/L, respectively. Long-term observation (>6 years) showed that after discontinuing NUC treatment for at least two years, HBsAg and HBV DNA remained negative with anti-HBs positive titers ranging between 80 and >1000 IU/L. Based on our preliminary observations, there is a rationale to further evaluate the role of this vaccine as a therapeutic agent.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040363
Authors: Omri Besor Noam Redlich Naama Constantini Michal Weiler-Sagie Efrat Monsonego Ornan Shira Lieberman Lea Bentur Ronen Bar-Yoseph
Energy imbalance exposes athletes to relative energy deficiency in sports (REDs) syndrome. Data on energy consumption, REDs, and bone mineral density (BMD) in adolescent acrobatic gymnasts, especially in males, are scarce. Our aim was to examine the eating habits, energy balance, body composition, and BMD of these athletes. In this study, 18 healthy adolescents participating in competitive acrobatic gymnastics completed a questionnaire, underwent a dual-energy X-ray absorptiometry scan (DXA), received a food log, and had their activities monitored for 3 days. Eighteen acrobats were enrolled (mean age: 14.3 ± 1.2 years; males: 6/18). The mean total body BMD Z-score was 0.4 ± 1.0. Top-position acrobats (7/18) had significantly lower total body BMD Z-scores than base-positioned acrobats (−0.2 ± 0.3 vs. 0.8 ± 0.3, p = 0.032), though their forearms were not significantly different (0.2 ± 0.5 vs. 0.8 ± 0.7, p = 0.331). No sex differences were found for BMD Z-scores, BMI, or energy availability. The BMD parameters of the acrobats were within the normal range for a healthy pediatric population, although three had low BMDs (<−1 SD) for healthy athletes. Total body and LS BMD Z-scores were significantly lower in top-position athletes compared to base-position athletes. These findings suggest personalized (top vs. base) training programs (high-impact training) that may achieve better health outcomes.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040362
Authors: Massimiliano Castellazzi Raffaella Candeloro Caterina Trevisan Samantha Permunian Gaia Buscemi Sara Ghisellini Giovanna Negri Giada Gilli Caterina Ferri Tiziana Bellini Stefano Pizzicotti Maura Pugliatti
(1) Background: Cerebrospinal fluid (CSF)/serum albumin quotient (QAlb) and CSF total protein (TP) are more elevated in males than females, and this has been hypothesised to be due to anthropometric differences between the sexes. This study aimed to investigate QAlb and CSF TP as a function of body height, weight, and body mass index (BMI). (2) Methods: A total of 207 patients were included in the study and analysed blinded to clinical diagnosis. (3) Results: Multivariable linear regressions were run to predict log-transformed Qalb and log-transformed CSF TP value from age, sex, weight, and height (first model) or from age, sex, and BMI (second model). In both models, age (β = 0.004, 95% CI = 0.002 to 0.006) and sex (β = −0.095, 95% CI = −0.169 to −0.021, and β = −0.135, 95% CI = −0.191 to −0.079) were significant predictors for QAlb, but weight, height, and BMI were not. Similarly, age (β = 0.004, 95% CI = 0.003 to 0.006) and sex (β = −0.077, 95% CI = −0.142 to −0.013, and β = −0.109, 95% CI = −0.157 to −0.060) were significant predictors for CSF TP, while anthropometric characteristics were not. No differences in QAlb and CSF TP were found when grouping males and females by BMI status. (4) Conclusions: Our data suggest that anthropometric characteristics could not explain the sex-related differences in QAlb and CSF TP.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040360
Authors: Francisco Cezar Aquino de Moraes Vitor Kendi Tsuchiya Sano Artur de Oliveira Macena Lôbo Francinny Alves Kelly Victória Morbach Eric Pasqualotto Rommel Mario Rodríguez Burbano
The benefit of associating anti-CD38 monoclonal antibodies to proteasome inhibitor (PI)/immunomodulatory agent (IA) and dexamethasone in the treatment of patients with relapsed or refractory multiple myeloma (MM) remains unclear. PubMed, Embase, and Cochrane Library databases were searched for randomized controlled trials that investigated the addition of anti-CD38 monoclonal antibodies to a therapy composed of PI/IA and dexamethasone versus PI/IA and dexamethasone alone for treating relapsed or refractory MM. Hazard ratios (HRs) or risk ratios (RRs) were computed for binary endpoints, with 95% confidence intervals (CIs). Six studies comprising 2191 patients were included. Anti-CD38 monoclonal antibody significantly improved progression-free survival (HR 0.52; 95% CI 0.43–0.61; p < 0.001) and overall survival (HR 0.72; 95% CI 0.63–0.83; p < 0.001). There was a significant increase in hematological adverse events, such as neutropenia (RR 1.41; 95% CI 1.26–1.58; p < 0.01) and thrombocytopenia (RR 1.14; 95% CI 1.02–1.27; p = 0.02), in the group treated with anti-CD38 monoclonal antibody. Also, there was a significant increase in non-hematological adverse events, such as dyspnea (RR 1.72; 95% CI 1.38–2.13; p < 0.01) and pneumonia (RR 1.34; 95% CI 1.13–1.59; p < 0.01), in the group treated with anti-CD38 monoclonal antibody. In conclusion, the incorporation of an anti-CD38 monoclonal antibody demonstrated a promising prospect for reshaping the established MM treatment paradigms.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040361
Authors: Maryam Yassi Ehsan Shams Davodly Saeedeh Hajebi Khaniki Mohammad Amin Kerachian
DNA methylation is a key epigenetic modification involved in gene regulation, contributing to both physiological and pathological conditions. For a more profound comprehension, it is essential to conduct a precise comparison of DNA methylation patterns between sample groups that represent distinct statuses. Analysis of differentially methylated regions (DMRs) using computational approaches can help uncover the precise relationships between these phenomena. This paper describes a hybrid model that combines the beta-binomial Bayesian hierarchical model with a combination of ranking methods known as HBCR_DMR. During the initial phase, we model the actual methylation proportions of the CpG sites (CpGs) within the replicates. This modeling is achieved through beta-binomial distribution, with parameters set by a group mean and a dispersion parameter. During the second stage, we establish the selection of distinguishing CpG sites based on their methylation status, employing multiple ranking techniques. Finally, we combine the ranking lists of differentially methylated CpG sites through a voting system. Our analyses, encompassing simulations and real data, reveal outstanding performance metrics, including a sensitivity of 0.72, specificity of 0.89, and an F1 score of 0.76, yielding an overall accuracy of 0.82 and an AUC of 0.94. These findings underscore HBCR_DMR’s robust capacity to distinguish methylated regions, confirming its utility as a valuable tool for DNA methylation analysis.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040359
Authors: Fatemeh Sarani Rad Rasha Hendawi Xinyi Yang Juan Li
Diabetes management requires constant monitoring and individualized adjustments. This study proposes a novel approach that leverages digital twins and personal health knowledge graphs (PHKGs) to revolutionize diabetes care. Our key contribution lies in developing a real-time, patient-centric digital twin framework built on PHKGs. This framework integrates data from diverse sources, adhering to HL7 standards and enabling seamless information access and exchange while ensuring high levels of accuracy in data representation and health insights. PHKGs offer a flexible and efficient format that supports various applications. As new knowledge about the patient becomes available, the PHKG can be easily extended to incorporate it, enhancing the precision and accuracy of the care provided. This dynamic approach fosters continuous improvement and facilitates the development of new applications. As a proof of concept, we have demonstrated the versatility of our digital twins by applying it to different use cases in diabetes management. These include predicting glucose levels, optimizing insulin dosage, providing personalized lifestyle recommendations, and visualizing health data. By enabling real-time, patient-specific care, this research paves the way for more precise and personalized healthcare interventions, potentially improving long-term diabetes management outcomes.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040357
Authors: Edoardo Mazzucchi Gianluca Galieri Fabrizio Pignotti Pierluigi Rinaldi Giovanni Sabatino Giuseppe La Rocca
Stereotactic needle biopsy (SNB) may be performed to collect tissue samples from lesions not amenable to open surgery. Integration of tractography, intraoperative imaging and fluorescence has been applied to reduce risk of complications and confirm the adequacy of bioptic specimens. Clinical and radiological data from patients who underwent stereotactic needle biopsy with the use of intraoperative CT, tractography and 5-aminolevulinic acid (5-ALA) fluorescence in a single Hospital were retrospectively reviewed to evaluate the accuracy and safety of the procedure. Seven patients were included in the study, and all the collected specimens showed red fluorescence. In six of them, the final histopathological diagnosis was grade 4 glioblastoma IDH-wt and in the other case it was Diffuse large B-Cell Lymphoma. The integration of tractography, intraoperative CT and 5-ALA as an intraoperative marker of diagnostic samples may be suggested in biopsies of suspect gliomas and lymphomas. The cost-effectiveness of the procedure should be evaluated in future studies.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040358
Authors: Damiana-Maria Vulturar Liviu-Ștefan Moacă Maria Adriana Neag Andrei-Otto Mitre Teodora-Gabriela Alexescu Diana Gherman Iulia Făgărășan Ioana Maria Chețan Claudia Diana Gherman Oana-Elena Melinte Antigona Carmen Trofor Doina-Adina Todea
Background: As the global battle against the COVID-19 pandemic endures, the spread of the Delta variant has introduced nuanced challenges, prompting a nuanced examination. Materials and Methods: We performed a multilevel logistic regression analysis encompassing 197 patients, comprising 44 vaccinated individuals (V group) and 153 unvaccinated counterparts (UV). These patients, afflicted with the Delta variant of SARS-CoV-2, were hospitalized between October 2021 and February 2022 at the COVID-19 department of a University Centre in Cluj-Napoca, Romania. We compared patient characteristics, CT lung involvement, Padua score, oxygen saturation (O2 saturation), ventilation requirements, dynamics of arterial blood gas (ABG) parameters, ICU admission rates, and mortality rates between the two groups. Results: The UV group exhibited a statistically significant (p < 0.05) proclivity toward developing a more severe form of infection, marked by elevated rates of lung involvement, oxygen requirement, ICU admission, and mortality. Conclusion: Our findings underscore the substantial efficacy of the vaccine in diminishing the incidence of severe disease, lowering the rates of ICU admissions, and mitigating mortality among hospitalized patients.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040356
Authors: Mi Jung Kwon Jwa-Kyung Kim Min-Jeong Kim Dae Myoung Yoo Na-Eun Lee Kyeong Min Han Nan Young Kim Ho Suk Kang Hyo Geun Choi Eun Soo Kim
While headaches frequently occur in individuals with chronic kidney disease (CKD), there are few statistical evaluations of their connection to migraines in population-based studies. In this nationwide longitudinal follow-up study of Korean health examination data (2002–2019), a total of 15,443 participants with CKD and 61,772 matched controls were enrolled. We applied overlap-weighted Cox proportional hazard regression models to assess hazard ratios, examining the correlation between CKD and the development of migraines. After accounting for various factors, we observed a modest reduction of approximately 11% in the likelihood of migraine occurrence among CKD patients (95% confidence intervals = 0.81–0.97) during the 16-year monitoring period. Subgroup analysis revealed a significant association among specific demographic and health conditions, including individuals aged 70 or older, females, overweight individuals, nonsmokers, and those without hypertension or diabetes. Our research may indicate a potential relationship between CKD and the onset of migraines in Korean adults, suggesting a slight reduction in the probability of the occurrence of migraines among those with CKD. These findings emphasize the need for attentive follow-up and preventive management in individuals without the identified protective factors, particularly in male CKD patients under the age of 70 with hypertension.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040355
Authors: Vaia Sapouna Athanasios Zikopoulos Sofia Thanopoulou Dimitrios Zachariou Ioannis Giannakis Aris Kaltsas Bou Sopheap Nikolaos Sofikitis Athanasios Zachariou
Bladder dysfunction, particularly neurogenic detrusor overactivity (DO), poses a substantial challenge in multiple sclerosis (MS) patients, detrimentally impacting their quality of life (QoL). Conventional therapies often fall short, necessitating alternative approaches like posterior tibial nerve stimulation (PTNS) for effective management. This narrative review critically examines the application of PTNS in treating DO among MS patients, aiming to provide a comprehensive synthesis of its efficacy, underlying mechanisms, and clinical outcomes. By evaluating a spectrum of studies, including randomized controlled trials and long-term follow-up research, the review elucidates PTNS’s role in enhancing bladder control and ameliorating symptoms of urgency and incontinence, thereby improving patient well-being. Despite its potential, the review acknowledges the limited scope of existing research specific to MS-induced neurogenic DO and calls for further investigation to optimize PTNS protocols and understand its long-term benefits. Highlighting PTNS’s minimal invasiveness and favorable safety profile, the review advocates for its consideration as a viable third-line treatment option in MS-related bladder dysfunction management. Through this analysis, the review contributes to the broader narrative of seeking effective, patient-centered therapeutic strategies for MS-related complications, underscoring the importance of personalized care in improving patient outcomes.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040354
Authors: Sarah Alshehri Khalid A. Alahmari Areej Alasiry
The integration of Artificial Intelligence (AI) into healthcare has the potential to revolutionize medical diagnostics, particularly in specialized fields such as Ear, Nose, and Throat (ENT) medicine. However, the successful adoption of AI-assisted diagnostic tools in ENT practice depends on the understanding of various factors; these include influences on their effectiveness and acceptance among healthcare professionals. This cross-sectional study aimed to assess the usability and integration of AI tools in ENT practice, determine the clinical impact and accuracy of AI-assisted diagnostics in ENT, measure the trust and confidence of ENT professionals in AI tools, gauge the overall satisfaction and outlook on the future of AI in ENT diagnostics, and identify challenges, limitations, and areas for improvement in AI-assisted ENT diagnostics. A structured online questionnaire was distributed to 600 certified ENT professionals with at least one year of experience in the field. The questionnaire assessed participants’ familiarity with AI tools, usability, clinical impact, trust, satisfaction, and identified challenges. A total of 458 respondents completed the questionnaire, resulting in a response rate of 91.7%. The majority of respondents reported familiarity with AI tools (60.7%) and perceived them as generally usable and clinically impactful. However, challenges such as integration with existing systems, user-friendliness, accuracy, and cost were identified. Trust and satisfaction levels varied among participants, with concerns regarding data privacy and support. Geographic and practice setting differences influenced perceptions and experiences. The study highlights the diverse perceptions and experiences of ENT professionals regarding AI-assisted diagnostics. While there is general enthusiasm for these tools, challenges related to integration, usability, trust, and cost need to be addressed for their widespread adoption. These findings provide valuable insights for developers, policymakers, and healthcare providers aiming to enhance the role of AI in ENT practice.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040353
Authors: Na-Eun Kim Woo-Joo Lee Jong-Kwon Jung Jang-Ho Song Kyung-Lim Joa Chun-Woo Yang Eui-Chan Jung Soo-Man Jo Yeong-Seung Ko
Nerves in patients with diabetic neuropathy (DN) show increased susceptibility to local anesthetics, potentially requiring a decreased dose. We investigated whether the minimum effective anesthetic concentration (MEAC) of mepivacaine for successful axillary block is lower in patients with DN than in those without. This prospective observational study included patients with DN (n = 22) and without diabetes (n = 22) at a tertiary care center. Patients received an ultrasound-guided axillary block with 30 mL of mepivacaine for anesthesia. The mepivacaine concentration used in each patient was calculated using Dixon’s up-and-down method. A block was considered successful if all four sensory nerves had a score of 1 or 2 within 30 min with no pain during surgery. The primary outcome was the MEAC of mepivacaine, and the secondary outcomes included the minimal nerve stimulation intensity for the musculocutaneous nerve and the occurrence of adverse events. The MEAC50 was 0.55% (95% CI 0.33–0.77%) in patients without diabetes and 0.58% (95% CI 0.39–0.77%) in patients with DN (p = 0.837). The MEAC90 was 0.98% (95% CI 0.54–1.42%) in patients without diabetes and 0.96% (95% CI 0.57–1.35%) in patients with DN (p = 0.949). The stimulation threshold for the musculocutaneous nerve was significantly different between groups (0.49 mA vs. 0.19 mA for patients with vs. without diabetes; p = 0.002). In conclusion, the MEAC of mepivacaine for a successful axillary block is not lower in patients with DN.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040352
Authors: Viktor Labmayr Elisabeth Huber Florian Wenzel-Schwarz Patrick Holweg Martin Ornig Gerd Jakob Wolfgang Palle Gudrun H. Borchert Klaus Pastl
Addressing non-unions involves stabilizing the affected area through osteosynthesis and improving bone biology using bone grafts. However, there is no consensus on the optimal treatment method. This study aims to compare outcomes of non-union surgery using conventional treatment methods (metal hardware ± graft) versus osteosynthesis with the human allogeneic cortical bone screw (Shark Screw®) alone or in combination with a metallic plate. Thirty-four patients underwent conventional treatment, while twenty-eight cases received one or more Shark Screws®. Patient demographics, bone healing, time to bone healing, and complications were assessed. Results revealed a healing rate of 96.4% for the Shark Screw® group, compared to 82.3% for the conventionally treated group. The Shark Screw® group exhibited a tendency for faster bone healing (9.4 ± 3.2 vs. 12.9 ± 8.5 weeks, p = 0.05061). Hardware irritations led to six metal removals in the conventional group versus two in the Shark Screw® group. The Shark Screw® emerges as a promising option for personalized non-union treatment in the foot, ankle, and select lower leg cases, facilitating effective osteosynthesis and grafting within a single construct and promoting high union rates, low complications, and a rapid healing process.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040351
Authors: Vito Andrea Capozzi Giosuè Giordano Incognito Elisa Scarpelli Marco Palumbo Cinzia Lucia Randazzo Alessandra Pino Marco La Verde Carlo Ronsini Gaetano Riemma Michela Gaiano Paola Romeo Vittorio Palmara Roberto Berretta Stefano Cianci
Ovarian cancer (OC) remains a significant health challenge globally, with high mortality rates despite advancements in treatment. Emerging research suggests a potential link between OC development and genital dysbiosis, implicating alterations in the microbiome composition as a contributing factor. To investigate this correlation, a meta-analysis was conducted following PRISMA and MOOSE guidelines, involving eight studies encompassing 3504 patients. Studies investigating the role of upper and inferior genital tract dysbiosis were included, with particular reference to HPV infection and/or history of pelvic inflammatory disease. The analysis revealed no significant difference in genital dysbiosis prevalence between OC patients and healthy controls. Although previous literature suggests associations between dysbiosis and gynecologic cancers, such as cervical and endometrial cancers, the findings regarding OC are inconclusive. Methodological variations and environmental factors may contribute to these discrepancies, underscoring the need for standardized methodologies and larger-scale studies. Despite the limitations, understanding the microbiome’s role in OC development holds promise for informing preventive and therapeutic strategies. A holistic approach to patient care, incorporating microbiome monitoring and personalized interventions, may offer insights into mitigating OC risk and improving treatment outcomes. Further research with robust methodologies is warranted to elucidate the complex interplay between dysbiosis and OC, potentially paving the way for novel preventive and therapeutic approaches.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040350
Authors: Silvia Izabella Pop Ana Procopciuc Mihai Mițariu Loredana Mițariu Radu Vasile Pop
Dental agenesis is one of the most common developmental anomalies in humans and it is frequently associated with several other oral abnormalities. The present case describes non-familial agenesis of permanent teeth in a twenty-one-year-old boy with no apparent systemic abnormalities. The treatment included a personalized and interdisciplinary approach involving endodontics, orthodontics, implant-supported restorations and prosthetic treatments. The treatment plan was thoroughly elaborated using photographic analysis, study models, orthopantomogram, CBCT and cephalograms. Virtual smile design, diagnostic waxing and mock-ups previsualized the treatment objectives. The edentulous spaces were reconstructed by inserting dental implants and monolithic zirconia implant-supported restorations. The final results showed a highly esthetic and functional rehabilitation. Periodic check-ups have shown that the stability of the result is well maintained and that the implant-supported restorations are an optimal solution for patients with multiple anodontia.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040349
Authors: Giovanni Motta Eva Aurora Massimilla Salvatore Allosso Massimo Mesolella Pietro De Luca Domenico Testa Gaetano Motta
Background: Given that the temporal bone is one of the most complex regions of the human body, cadaveric dissection of this anatomical area represents the first necessary step for the learning and training of the young oto-surgeon in order to perform middle ear surgery, which includes the management of inflammatory pathology, hearing rehabilitation, and also cognitive decline prevention surgery. The primary objective of this study was to identify common mistakes and critical passages during the initial steps of temporal bone dissection, specifically cortical mastoidectomy and posterior tympanotomy. Methods: A survey among 100 ENT residents was conducted, gathering insights into the most prevalent errors encountered during their training to uncover the most challenging aspects faced by novice surgeons during these procedures. Results: The most common mistakes included opening the dura of the middle cranial fossa (MCF), injury of the sigmoid sinus (SS), chorda tympani (CT), and facial nerve (FN) injury while performing the posterior tympanotomy. The most important critical steps to prevent mistakes are related to the absence of wide exposure during cortical mastoidectomy and the consequent impossibility of identifying the landmarks of the facial recess before performing posterior tympanotomy. Injury of these structures was more common in younger surgeons and in the ones who performed less than five temporal bone dissection courses. Conclusions: Numerous temporal bone dissections on cadavers are mandatory for ENT residents looking forward to performing middle ear surgery.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040348
Authors: Gian Marco Pace Francesco Giombi Giovanna Muci Gianmarco Giunta Francesca Pirola Egidio Serra Jessica Zuppardo Fabio Ferreli Paolo Vinciguerra Giuseppe Mercante Alessandra Di Maria Giuseppe Spriano Luca Malvezzi
Background: Anti-glaucoma eye drops have been investigated due to their production of fibrotic changes on the conjunctival surface, undermining the functioning of the upper lacrimal drainage system. We aimed to assess whether these effects may impair the effectiveness of endoscopic endonasal dacryocystorhinostomy (EE-DCR). Methods: This is a single-center observational retrospective study on EE-DCR via a posterior approach. Resolution of epiphora and dacryocystitis were analyzed after 1 (T1) and 6-months (T2) from surgery. Surgical success was defined as anatomical (patency at irrigation, no recurring dacryocystitis) or complete (zeroing of Munk score). Results: Twenty patients (32 sides) were enrolled. Preoperatively, 93.75% (n = 30/32) presented severe (Munk 3–4) epiphora and 68.75% (n = 22/32) recurrent dacryocystitis. At T1, 50.0% (n = 16/32) were referred with residual epiphora (Munk ≥ 1) and 18.75% (n = 6/32) dacryocystitis. At T2, 31.25% (n = 10/32) still complained of epiphora (Munk ≥ 1) and 6.25% (n = 2/32) dacryocystitis. Difference of outcomes at aggregate and paired timepoints (except for T1 versus T2) resulted in statistical significance (p < 0.05). At T2, 22 (68.75%) complete, 8 (25.0%) anatomical successes and 2 (6.25%) surgical failures were observed. Conclusions: Despite the chronic uptake of anti-glaucoma eye drops, EE-DCR guaranteed high rates of clinical relief from epiphora and remarkable decreases in the rates of recurrent dacryocystitis.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040347
Authors: Ignazio La Mantia Giancarlo Ottaviano Martina Ragusa Matteo Trimarchi Emanuela Foglia Fabrizio Schettini Daniele Bellavia Elena Cantone
Chronic RhinoSinusitis with Nasal Polyps (CRSwNP) represents a condition mainly caused by the type 2 inflammation presence and marked by the existence of polyps within the nasal and paranasal sinuses. The standard of care includes intranasal steroids, additional burst of systemic steroids, if needed, and surgery. However, recurrence is common, especially among patients with comorbid type 2 inflammatory diseases. Recently, biological drugs, addressing the underlying cause of the disease, have been approved in Italy (dupilumab, omalizumab, and mepolizumab). A Health Technology Assessment was conducted to define multidimensional impact, assuming Italian NHS perspective and a 12-month time horizon. The EUnetHTA Core Model was deployed, using the following methods to analyze the domains: (i) literature evidence; (ii) administration of semi-structured questionnaires to 17 healthcare professionals; (iii) health economics tools to define the economic sustainability for the system. Evidence from NMA and ITC showed a more favorable safety profile and better efficacy for dupilumab compared with alternative biologics. All the analyses, synthesizing cost and efficacy measures, showed that dupilumab is the preferable alternative. Specifically, the cost per responder analysis for dupilumab, exhibiting a 67.0% response rate at Week 52, is notably economical at 14,209EUR per responder. This presents a more economical profile compared with the cost per responder for omalizumab (36.2% response rate) at 24,999EUR and mepolizumab (28.5% response rate) at 31,863EUR. These results underscore dupilumab’s potential, not merely in terms of clinical outcomes, but also in terms of economic rationality, thereby solidifying its status as a valid and preferrable alternative in the management of CRSwNP, in the context of the Italian NHS.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040346
Authors: Stefanos Ferous Nikolaos Siafakas Fotini Boufidou George P. Patrinos Athanasios Tsakris Cleo Anastassopoulou
The ABO blood groups, Lewis antigens, and secretor systems are important components of transfusion medicine. These interconnected systems have been also shown to be associated with differing susceptibility to bacterial and viral infections, likely as the result of selection over the course of evolution and the constant tug of war between humans and infectious microbes. This comprehensive narrative review aimed to explore the literature and to present the current state of knowledge on reported associations of the ABO, Lewis, and secretor blood groups with SARS-CoV-2 infection and COVID-19 severity. Our main finding was that the A blood group may be associated with increased susceptibility to SARS-CoV-2 infection, and possibly also with increased disease severity and overall mortality. The proposed pathophysiological pathways explaining this potential association include antibody-mediated mechanisms and increased thrombotic risk amongst blood group A individuals, in addition to altered inflammatory cytokine expression profiles. Preliminary evidence does not support the association between ABO blood groups and COVID-19 vaccine response, or the risk of developing long COVID. Even though the emergency state of the pandemic is over, further research is needed especially in this area since tens of millions of people worldwide suffer from lingering COVID-19 symptoms.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040345
Authors: Panagiotis Tsikouras Efthymios Oikonomou Konstantinos Nikolettos Sotiris Andreou Dimitrios Kyriakou Christos Damaskos Nikolaos Garmpis Vassiliki Monastiridou Theopi Nalmpanti Anastasia Bothou George Iatrakis Nikolaos Nikolettos
This review delves into the possible connection between periodontitis and negative pregnancy outcomes, such as preeclampsia and preterm birth. It highlights the potential influence of an unidentified microbial factor on preeclampsia and the effects of inflammatory responses on the rate of preterm births. Furthermore, it underscores the prevalent occurrence of oral ailments within the populace and their significant repercussions on quality of life. Hormonal fluctuations during pregnancy may exacerbate oral conditions such as pregnancy gingivitis and periodontitis, necessitating bespoke therapeutic approaches that take into account potential fetal ramifications. Periodontal disease, characterized by microbial attack and inflammatory response, results in tissue destruction and tooth loss. The oral cavity’s susceptibility to bacterial colonization, which is primarily due to its role as a site for food intake, is highlighted. Furthermore, research indicates a correlation between inflammatory responses and factors such as prostaglandin E2 and IL-1β, and preterm birth. Therapeutic interventions are a focus of international research, with efforts being aimed at optimizing outcomes through larger studies involving pregnant women.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040344
Authors: Sungmin Park Changhwan Sohn Hyojeong Kwon Sangmin Kim Seungmok Ryoo Shin Ahn Dongwoo Seo Wonyoung Kim
Background: This study aimed to evaluate the association between initial fibrinogen levels and massive transfusion (MT) in emergency department (ED) patients with primary postpartum hemorrhage (PPH). Methods: This retrospective study was conducted in the ED of a university-affiliated, tertiary referral center from January 2004 to August 2023. Patients were divided into two groups: the MT group, which included those who received a transfusion of 10 or more units of packed red blood cells within the first 24 h, and the Non-MT group. Results: Out of the 364 patients included in the study, 97 (26.6%) required MT. Fibrinogen, shock index, and lactate were independently associated with MT (odds ratio [OR] 0.987; 95% confidence interval [CI] 0.983–0.991; p < 0.001, OR 7.277; 95% CI 1.856–28.535; p = 0.004, and OR 1.261; 95% CI 1.021–1.557; p = 0.031, respectively). The area under the receiver operating characteristic curve for fibrinogen, shock index, and lactate in predicting MT was 0.871 (95% CI 0.832–0.904; p < 0.001), 0.821 (95% CI 0.778–0.859; p < 0.001), and 0.784 (95% CI 0.738–0.825; p < 0.001), respectively. When the cutoff value of fibrinogen was 400 mg/dL, both the sensitivity and negative predictive values for predicting MT were 100.0%. When the cutoff value of fibrinogen was 100 mg/dL, the specificity and positive predictive values were 91.8% and 70.7%, respectively. Conclusion: The initial fibrinogen levels were independently associated with the need for MT in ED patients with primary PPH.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040343
Authors: Marius Valeriu Hînganu Ramona Paula Cucu Delia Hînganu
Throughout history, people have struggled to find out the secret of youth. The aim of the manuscript is to review the main achievements regarding the exploration of the aging face phenomenon. It should be very important to know the evolution in this field due to the increase in life expectancy among the population. Our purpose is for the current study to serve as a starting point towards exploring novel research avenues in molecular biology and the confocal immunofluorescence of cervicofacial soft tissues, employing cutting-edge techniques. All changes in the shape of the facial skeleton, soft tissue, retaining ligaments, fat compartments, and the skin envelope contribute to facial aging to varying degrees.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040342
Authors: Renzo Guarnieri Rodolfo Reda Dario Di Nardo Francesco Pagnoni Alessio Zanza Luca Testarelli
The aim of the current study was to retrospectively investigate the prevalence of peri-implant mucositis (PIM) and peri-implantitis (P) in a long-term follow-up (≥20 years) of implants with the same body design and body surface but different collar surfaces with laser-microtextured grooves (LMGSs) vs. no laser-microtextured grooves (no-LMGSs) in private practice patients. Furthermore, several patient-related, implant-related, site-, surgical-, and prosthesis-related potential disease risk factors were analyzed. A chart review of patients receiving at least one pair of implants (one with an LMGS and the other without LMGS) in the period 1993–2002 was used. Chi-square analysis was used to determine if a statistically significant difference between the investigated variables and PIM/P was present. Possible risk factors were statistically evaluated by a binary logistic regression analysis. A total of 362 patients with 901 implant-supported restorations (438 with LMGS and 463 no-LMGS) were included in the study. The cumulative survival rates of implants at 5, 10, 15, and 20 years were 98.1%, 97.4%, 95.4%, and 89.8%, respectively, for the LMGS group, and 93.2%, 91.6%, 89.5%, and 78.3% for the no-LMGS group. The difference was statistically significant at all timepoints (p < 0.05). In total, at the end of the follow-up period, 45.7% of patients and 39.8% of implants presented PIM, and 15.6% of patients and 14% of implants presented P. A total of 164 LMGS implants (37.4%) and 195 no-LMGS implants (42.1%) presented peri-implant mucositis, while 28 (6.3%) of LMGS implants and 98 (21.1%) no-LMGS implants demonstrated peri-implantitis. Differences between LMGS implants and no-LMGS implants were statistically significant (p < 0.05). The binary logistic regression identified collar surface, cigarette smoking, histories of treated periodontitis, and lack of peri-implant maintenance as risk factors for P. After at least 20 years of function in patients followed privately, LMGS implants compared to no-LMGS implants presented a statistically and significantly lower incidence of P. Implant collar surface, cigarette smoking, previously treated periodontitis, and lack of peri-implant maintenance are factors with significant association to P.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040341
Authors: Caterina Giannitto Giorgia Carnicelli Stefano Lusi Angela Ammirabile Elena Casiraghi Armando De Virgilio Andrea Alessandro Esposito Davide Farina Fabio Ferreli Ciro Franzese Gian Marco Frigerio Antonio Lo Casto Luca Malvezzi Luigi Lorini Ahmed E. Othman Lorenzo Preda Marta Scorsetti Paolo Bossi Giuseppe Mercante Giuseppe Spriano Luca Balzarini Marco Francone
 Artificial intelligence (AI) approaches have been introduced in various disciplines but remain rather unused in head and neck (H&N) cancers. This survey aimed to infer the current applications of and attitudes toward AI in the multidisciplinary care of H&N cancers. From November 2020 to June 2022, a web-based questionnaire examining the relationship between AI usage and professionals’ demographics and attitudes was delivered to different professionals involved in H&N cancers through social media and mailing lists. A total of 139 professionals completed the questionnaire. Only 49.7% of the respondents reported having experience with AI. The most frequent AI users were radiologists (66.2%). Significant predictors of AI use were primary specialty (V = 0.455; p < 0.001), academic qualification and age. AI’s potential was seen in the improvement of diagnostic accuracy (72%), surgical planning (64.7%), treatment selection (57.6%), risk assessment (50.4%) and the prediction of complications (45.3%). Among participants, 42.7% had significant concerns over AI use, with the most frequent being the ‘loss of control’ (27.6%) and ‘diagnostic errors’ (57.0%). This survey reveals limited engagement with AI in multidisciplinary H&N cancer care, highlighting the need for broader implementation and further studies to explore its acceptance and benefits. 
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040340
Authors: Ligia Balulescu Simona Brasoveanu Marilena Pirtea Dorin Grigoras Cristina Secoșan Flavius Olaru Dragos Erdelean Mădălin-Marius Margan Alexandru Alexandru Cristiana-Smaranda Ivan Laurențiu Pirtea
Study objective: The objective of this systematic review is to investigate the impact of laparoscopic myomectomy techniques on pregnancy outcomes, with a specific focus on the correlation between the type of suture used during the procedure and the incidence of uterine rupture. Additionally, the study aims to examine how the localization and size of myomas, key factors in laparoscopic myomectomy, may influence fertility outcomes. Data Sources: extensive searches were conducted using MDPI, PubMed, Web of Science, and Cochrane Library databases from 2008 to November 2023. Methods of Study Selection: The study involved women of reproductive age diagnosed with fibroids who underwent surgical removal of fibroids using either laparotomy or laparoscopy. The evaluation of pregnancy outcomes focused on indicators such as live birth rates, miscarriage rates, stillbirth rates, premature delivery rates, and cases of uterine rupture. Quality assessment was systematically performed by employing the National Institutes of Health Study Quality Assessment Tools, with the subsequent formulation of clinical recommendations that were meticulously graded in accordance with the robustness of the underlying evidence. Results: The pregnancy outcomes post-myoma treatment, as reflected in one of the presented tables, show a promising number of pregnancies and live births, but also indicate the potential risks of miscarriages and preterm births. The diversity in outcomes observed among various studies underscores the imperative for tailored patient care, as well as the necessity for additional research aimed at optimizing fertility and pregnancy outcomes following myoma treatment. Conclusion: This study offers insights into the criteria for patient selection and intraoperative methodologies specifically related to laparoscopic myomectomy. To enhance our understanding of the associations between fibroid characteristics (location, size) and reproductive outcomes, additional research is warranted, particularly through well-designed clinical trials.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040339
Authors: Alberto Ruffilli Matteo Traversari Giovanni Viroli Marco Manzetti Marco Ialuna Manuele Morandi Guaitoli Antonio Mazzotti Elena Artioli Simone Ottavio Zielli Alberto Arceri Cesare Faldini
The use of closed suction drains post posterior spinal fusion for adolescent idiopathic scoliosis (AIS) is common practice, although evidence on its impact is limited compared to that for knee and hip arthroplasty. This study aimed to assess the effect of closed suction drainage on short-term post-operative outcomes in AIS surgery. A systematic review following PRISMA guidelines was conducted, including studies comparing outcomes with and without drainage. Data on blood loss, transfusions, hospital stay, and complications were collected and subjected to meta-analysis. Five studies involving 772 patients were analyzed. The meta-analysis found no significant difference in blood transfusion rates (p = 0.107) or hospital stay (p = 0.457) between groups. Complications, including surgical site infections, were more common without drainage, though not statistically significant (p = 0.356). Reintervention rates were higher in the no-drainage group, but not significantly (p = 0.260). Overall, this review found no significant short-term outcome differences, suggesting clinical judgment should guide drainage decisions. Further research, particularly with enhanced recovery protocols, is warranted to clarify drainage’s role in AIS surgery.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040338
Authors: Katharina Gangl David Tianxiang Liu Tina Bartosik Nicholas James Campion Erich Vyskocil Christian Albert Mueller Birgit Knerer Julia Eckl-Dorna Sven Schneider
(1) Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) has a high rate of recurrence in patients, despite therapy with local corticosteroids and functional endoscopic sinus surgery. Dupilumab, a recombinant monoclonal human IgG4 antibody directed against the IL-4 receptor α that inhibits both IL-4 and IL-13 signal transduction, is available for symptomatic therapy. Patient preference between repeated surgery and injection therapy with Dupilumab is not known. (2) Methods: Patients who had experienced at least one surgical intervention for nasal polyps and were treated with Dupilumab for at least 3 months completed a retrospective patient questionnaire. (3) Results: In a cohort of 75 previously operated CRSwNP patients, 91.5% preferred therapy with Dupilumab to repeated surgery for nasal polyps. Preference for Dupilumab in the subgroups of patients with concomitant Non-steroidal Anti-inflammatory Drugs Exacerbated Respiratory Disease (N-ERD) (n = 32), patients with concomitant asthma (n = 25), and patients without concomitant disease (n = 18) was 100%, 96%, and 72%, respectively. (4) Conclusions: Patient preference for Dupilumab over repeat surgery is strongest in previously operated CRSwNP patients with concomitant asthma or N-ERD, but remains very high in patients without concomitant disease.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040337
Authors: Merle R. Schene Caroline E. Wyers Johanna H. M. Driessen Lisanne Vranken Kenneth Meijer Joop P. van den Bergh Hanna C. Willems
The “can do, do do” framework combines measures of poor and normal physical capacity (PC, measured by a 6 min walking test, can do/can’t do) and physical activity (PA, measured by accelerometer, do do/don’t do) into four domains and is able to categorize patient subgroups with distinct clinical characteristics, including fall and fracture risk factors. This study aims to explore the association between domain categorization and prospective fall, fracture, and mortality outcomes. This 6-year prospective study included patients visiting a Fracture Liaison Service with a recent fracture. Outcomes were first fall (at 3 years of follow-up, measured by fall diaries), first subsequent fracture, and mortality (at 6 years). Cumulative incidences of all three outcomes were calculated. The association between domain categorization and time to the three outcomes was assessed by uni- and multivariate Cox proportional hazard analysis with the “can do, do do” group as reference. The physical performance of 400 patients with a recent fracture was assessed (mean age: 64 years; 70.8% female), of whom 61.5%, 20.3%, and 4.9% sustained a first fall, sustained a subsequent fracture, or had died. Domain categorization using the “can do, do do” framework was not associated with time to first fall, subsequent fracture, or mortality in the multivariate Cox regression analysis for all groups. “Can’t do, don’t do” group: hazard ratio [HR] for first fall: 0.75 (95% confidence interval [CI]: 0.45–1.23), first fracture HR: 0.58 (95% CI: 0.24–1.41), and mortality HR: 1.19 (95% CI: 0.54–6.95). Categorizing patients into a two-dimensional framework seems inadequate to study complex, multifactorial outcomes. A personalized approach based on known fall and fracture risk factors might be preferable.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040336
Authors: Leonie Krol York Hagmayer Nicole von Steinbuechel Katrin Cunitz Anna Buchheim Inga K. Koerte Marina Zeldovich
Assessment of health-related quality of life (HRQoL) after pediatric traumatic brain injury (TBI) has been limited in children and adolescents due to a lack of disease-specific instruments. To fill this gap, the Quality of Life after Traumatic Brain Injury for Children and Adolescents (QOLIBRI-KID/ADO) Questionnaire was developed for the German-speaking population. Reference values from a comparable general population are essential for comprehending the impact of TBI on health and well-being. This study examines the validity of the German QOLIBRI-KID/ADO in a general pediatric population in Germany and provides reference values for use in clinical practice. Overall, 1997 children and adolescents aged 8–17 years from the general population and 300 from the TBI population participated in this study. The questionnaire was tested for reliability and validity. A measurement invariance (MI) approach was used to assess the comparability of the HRQoL construct between both samples. Reference values were determined by percentile-based stratification according to factors that significantly influenced HRQoL in regression analyses. The QOLIBRI-KID/ADO demonstrated strong psychometric properties. The HRQoL construct was measured largely equivalently in both samples, and reference values could be provided. The QOLIBRI-KID/ADO was considered reliable and valid for assessing HRQoL in a general German-speaking pediatric population, allowing for clinically meaningful comparisons between general and TBI populations.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040335
Authors: Alin Horatiu Nedelcu Ancuta Lupu Marius Constantin Moraru Cristina Claudia Tarniceriu Cristinel Ionel Stan Simona Alice Partene Vicoleanu Ana Maria Haliciu Gabriel Statescu Manuela Ursaru Ciprian Danielescu Ileana Ioniuc Razvan Tudor Tepordei Vasile Valeriu Lupu
Background: The aberrant origin of the right subclavian artery (ARSA), also known as the lusoria artery, is a congenital malformation with an incidence of 0.5–4.4%. Most cases are incidental due to minimal clinical manifestations. Computer tomography (CT) is important in diagnosing and evaluating these patients. Materials and Methods: We conduct a computerized search in two databases, PubMed and EMBASE, for articles published between 1 January 2022 and 31 December 2023, PROSPERO code: CRD42024511791. Eligible for inclusion were case reports and case series that presented the aberrant origin of the right subclavian artery. The main outcome was the highlighting of the morphological types of ARSA. In this context, we proposed a new classification system of this anomaly. The secondary outcome was the evaluation of the demographic distribution of the lusoria artery. Results: Our search identified 47 articles describing 51 patients with ARSA. The typical course for ARSA is retroesophageal, being registered in 49 out of 51 patients. This malformation is frequently associated with Kommerell diverticulum (15 out of 51), troncus bicaroticus (7 out of 51), and aberrant origins of the right vertebral artery (7 out of 51). We observed a higher incidence of the condition among women (32 out of 51) compared to men (19 out of 51). From a demographic point of view, ARSA is more frequent in the “44 to 57 years” and “58 to 71 years” age ranges. Conclusions: ARSA is a congenital malformation resulting from a defect in the development of the aortic arches. The imaging studies such as computer tomography play a defined diagnostic role.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040334
Authors: Matthaios Bakalakos Christos Vlachos Margarita-Michaela Ampadiotaki Antonios Stylianakis Nikolaos Sipsas Spiros Pneumaticos John Vlamis
Orthopaedic implant-associated infections (OIAIs) represent a notable complication of contemporary surgical procedures, exerting a considerable impact on patient outcomes and escalating healthcare expenditures. Prompt diagnosis holds paramount importance in managing OIAIs, with sonication widely acknowledged as the preferred method for detecting biofilm-associated infections. Recently, dithiothreitol (DTT) has emerged as a potential substitute for sonication, owing to its demonstrated ability to impede biofilm formation. This study aimed to compare the efficacy of DTT with sonication in identifying microorganisms within implants. Conducted as a prospective cohort investigation, the study encompassed two distinct groups: patients with suspected infections undergoing implant removal (Group A) and those slated for hardware explantation (Group B). Hardware segments were assessed for biofilm-related microorganisms using both sonication and DTT, with a comparative analysis of the two methods. A total of 115 patients were enrolled. In Group A, no statistically significant disparity was observed between DTT and sonication. DTT exhibited a sensitivity of 89.47% and specificity of 96.3%. Conversely, in Group B, both DTT and sonication fluid cultures yielded negative results in all patients. Consequently, this investigation suggests that DTT holds comparable efficacy to sonication in detecting OIAIs, offering a novel, cost-effective, and readily accessible diagnostic modality for identifying implant-associated infections.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040333
Authors: Albino Eccher Davide Seminati Vincenzo L’Imperio Gabriele Casati Daniela Pilla Umberto Malapelle Isabella Piga Greta Bindi Alessandro Marando Emanuela Bonoldi Emanuele Dainese Mattia Riefolo Antonia D’Errico Matteo Costantini Alberto Lugli Stefano Grassi Aldo Scarpa Angelo Paolo Dei Tos Fabio Pagni
In the molecular era, proper archival conditions within pathology laboratories are crucial, especially for formalin-fixed paraffin-embedded (FFPE) tissue specimens retrieved years after the original diagnosis. Indeed, improper preservation can impact the integrity of nucleic acids and protein antigens. This study evaluates the quality status of stored FFPE blocks using multilevel omics approaches. FFPE blocks from 45 Non-Small Cell Lung Carcinoma (NSCLC) cases were analyzed. The blocks were collected from six different pathology archives across Italy with distinct environmental characteristics. Nucleic acids’ quantity and quality, as well as protein antigens, were assessed using various techniques, including MALDI-MSI. RNA was quantitatively higher, but more fragmented, compared to DNA. DNA quantity and quality were suitable for molecular analyses in 94.4% and 62.3% of samples, respectively. RNA quantity was adequate across all samples, but it was optimal only in 22.3% of cases. DNA quality started to deteriorate after 6–8 years, whereas RNA quality diminished only after 10 years of storage. These data might suggest a particular DNA susceptibility to FFPE blocks conservation. Immunohistochemical intensity decreased significantly after 6–8 years of storage, and MALDI-MSI analysis revealed that younger tissue blocks contained more unique proteomic signals than the older ones. This study emphasizes the importance of proper FFPE archiving conditions for molecular analyses. Governance should prioritize attention to pathology archives to ensure quality preservation and optimize predictive testing. By elucidating the nuances of FFPE block storage, this research paves the way for enhanced molecular diagnostics and therapeutic insights regarding oncology and beyond.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040332
Authors: Sofía Monti-Ballano Sergio Márquez-Gonzalvo María Orosia Lucha-López Loreto Ferrández-Laliena Lucía Vicente-Pina Rocío Sánchez-Rodríguez Héctor José Tricás-Vidal José Miguel Tricás-Moreno
Tension-type headache is the most prevalent type of headache and is commonly associated with myofascial pain syndrome and the presence of active myofascial trigger points. This randomized controlled trial aimed to assess the impact of dry needling on the total number of active trigger points, pain intensity, and perceived clinical change in tension-type headache subjects. Thirty-two subjects were randomly assigned to the control and dry needling groups. The presence of active trigger points in 15 head and neck muscles, the headache intensity, and the perceived clinical change were evaluated. A single dry needling technique was administered at each active trigger point across three sessions. Significant differences were observed in the post-treatment measures favouring the dry needling group, including reductions in the headache intensity scores (p = 0.034) and the total number of active trigger points (p = 0.039). Moreover, significant differences in the perception of clinical change were found between the control and treatment groups (p = 0.000). Dry needling demonstrated positive effects in reducing the number of active trigger points and improving the short-term headache intensity in tension-type headache patients. A single dry needling session applied in the cranio-cervical area resulted in a self-perceived improvement compared to the control subjects.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040331
Authors: Jin-Ho Jeong Ji Hye Hwang
Hypothyroidism is more common in women and individuals between 30 and 50 years old. This case report depicts the clinical outcomes of MOK pharmacopuncture, a type of Korean medicine treatment, for an elderly male patient with hypothyroidism who was on long-term L-thyroxine (LT4) therapy but still felt chronically lethargic and tired and was generally in poor health. A 72-year-old Korean man has been on LT4 since being diagnosed with hypothyroidism 16 years ago and has tried to discontinue hormone supplements in the past. The patient was treated with MOK pharmacopuncture, mainly at the ST10 acupoint, twice a week for four months. Following the treatment, the T3, free-T4, and TPO Ab levels and thyroiditis status on ultrasound showed improvement. Additionally, there were a normalization of ESR levels, an enhancement in the quality of life, a reduction in depression scores, an improvement in the antioxidant status, and an alleviation of major symptoms when compared to pre-treatment conditions. This case report demonstrates the potential of MOK pharmacopuncture as a complementary treatment for an elderly man with hypothyroidism who had a poor quality of life due to fatigue and lethargy despite LT4 treatment.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14040330
Authors: Mustafa Can Şenoymak Nuriye Hale Erbatur İrem Şenoymak Sevde Nur Fırat
This research investigates the utility of Chat Generative Pre-trained Transformer (ChatGPT) in addressing patient inquiries related to hyperprolactinemia and prolactinoma. A set of 46 commonly asked questions from patients with prolactinoma were presented to ChatGPT and responses were evaluated for accuracy with a 6-point Likert scale (1: completely inaccurate to 6: completely accurate) and adequacy with a 5-point Likert scale (1: completely inadequate to 5: completely adequate). Two independent endocrinologists assessed the responses, based on international guidelines. Questions were categorized into groups including general information, diagnostic process, treatment process, follow-up, and pregnancy period. The median accuracy score was 6.0 (IQR, 5.4–6.0), and the adequacy score was 4.5 (IQR, 3.5–5.0). The lowest accuracy and adequacy score assigned by both evaluators was two. Significant agreement was observed between the evaluators, demonstrated by a weighted κ of 0.68 (p = 0.08) for accuracy and a κ of 0.66 (p = 0.04) for adequacy. The Kruskal–Wallis tests revealed statistically significant differences among the groups for accuracy (p = 0.005) and adequacy (p = 0.023). The pregnancy period group had the lowest accuracy score and both pregnancy period and follow-up groups had the lowest adequacy score. In conclusion, ChatGPT demonstrated commendable responses in addressing prolactinoma queries; however, certain limitations were observed, particularly in providing accurate information related to the pregnancy period, emphasizing the need for refining its capabilities in medical contexts.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030329
Authors: Carolyn E. Schwartz Katrina Borowiec Bruce D. Rapkin Joel A. Finkelstein
Spine surgery generally yields a notable improvement in patients’ health state, and there is variability in measured patient outcomes after spine surgery. The present work aimed to describe for clinicians how appraisal underlies their patients’ experience of healthcare interventions. This prospective longitudinal cohort study (n = 156) included adults undergoing spine surgery for degenerative spinal conditions. The analysis was a descriptive illustration of the relationship between change in the spine-related disability using the Oswestry Disability Index and change in cognitive-appraisal processes using the Quality-of-Life Appraisal Profilev2-Short Form, early versus later during the recovery trajectory (i.e., between baseline and 3 months post-surgery; and between 3 and 12 months post-surgery). Cognitive-appraisal processes related to Sampling of Experience showed greater change soon after surgery, whereas Standards of Comparison appraisals changed more later in the recovery trajectory. Different appraisal processes were emphasized by patients who reported worsening of the spine-related disability, as compared to those who reported no change or improvement. These findings suggest that changes in appraisal differ depending on the individual’s experience of the impact of spine surgery. Appraisal processes thus reflect an ongoing dynamic in adaptation to changing function.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030328
Authors: Dhayanithi Jaganathan Sathiyabhama Balsubramaniam Vidhushavarshini Sureshkumar Seshathiri Dhanasekaran
Pneumonia remains a critical health concern worldwide, necessitating efficient diagnostic tools to enhance patient care. This research proposes a concatenated modified LeNet classifier to classify pneumonia images accurately. The model leverages deep learning techniques to improve the diagnosis of Pneumonia, leading to more effective and timely treatment. Our modified LeNet architecture incorporates a revised Rectified Linear Unit (ReLU) activation function. This enhancement aims to boost the discriminative capacity of the features learned by the model. Furthermore, we integrate batch normalization to stabilize the training process and enhance performance within smaller, less complex, CNN architectures like LeNet. Batch normalization addresses internal covariate shift, a phenomenon where the distribution of activations within a network alter during training. These modifications help to prevent overfitting and decrease computational time. A comprehensive dataset is used to evaluate the model’s performance, and the model is benchmarked against relevant deep-learning models. The results demonstrate a high recognition rate, with an accuracy of 96% in pneumonia image recognition. This research suggests that the Concatenated Modified LeNet classifier has the potential to be a highly useful tool for medical professionals in the diagnosis of pneumonia. By offering accurate and efficient image classification, our model could contribute to improved treatment decisions and patient outcomes.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030327
Authors: Stamatios Petousis Panagiota Angelou Aristarchos Almperis Antonio Simone Laganà Gerasimos Titilas Chrysoula Margioula-Siarkou Konstantinos Dinas
Surgical site infections (SSIs) refer to infections in the incision, organ, or postoperative space. As common healthcare-associated infections, SSIs correlate with prolonged hospital stay, additional procedures, ICU stay, and higher mortality rates. Around 8–10% of gynecologic surgery patients may experience infectious complications, influenced by microbial contamination, surgical nature, and patient factors. The goal of this narrative review is to compare and merge recommendations from globally published guidelines concerning the utilization of antibiotics in the perioperative phase. A comparative descriptive/narrative review of the guidelines issued by the American College of Obstetrics and Gynecology (ACOG), Society of Obstetricians and Gynecologists of Canada (SOGC), Royal College of Obstetricians and Gynecologists (RCOG), National Institute for Health and Care Excellence (NICE), Royal Australian and New Zealand College of Obstetricians and Gynecologists (RANZCOG), European Society of Gynecologic Oncology (ESGO), Société Française d’ Anésthesie et de Réanimation (SFAR), Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC), and Hellenic Society of Obstetrics and Gynecology (HSOG) was conducted. For hysterectomy, first/second-generation cephalosporins are suggested, with metronidazole as an option. Laparoscopy without entering the bowel or vagina typically does not require prophylaxis. Uterine evacuation and hysteroscopy may involve doxycycline or azithromycin based on risk factors, whereas, for vulvectomy, cefazolin is recommended. Urogynecology procedures may include cefazolin with metronidazole. In cases of penicillin allergy, cephalosporins are suggested, and, for obese patients, adjusted doses are advised. Additional doses may be needed for prolonged procedures or excessive blood loss. Timing recommendations are 15–60 min before incision, adjusting for specific antibiotics. Clear indications exist for certain surgeries like hysterectomy, termination of pregnancy, and urogynecologic procedures. Conversely, procedures such as intrauterine device insertion, hysteroscopy, and laparoscopy typically do not necessitate antibiotic prophylaxis. For several other procedures, the evidence is inconclusive, while considering dose, timing, and indications can mitigate infectious complications and provide benefits for the healthcare system.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030326
Authors: Jiri Jandura Milan Vajda Michal Cech Pavel Ryska
Minimally invasive oxygen–ozone (O2-O3) therapy utilizing the biochemical effects of O2-O3 mixture is commonly used in the treatment of musculoskeletal pain. The literature dealing with O2-O3 therapy of spinal pain focuses mainly on the lumbosacral region. The aim of this review is to evaluate the efficacy of O2-O3 therapy in musculoskeletal pain in the neck region. The Medline (PubMed), SCOPUS, Web of Science, and Google Scholar databases were searched for clinical studies, using the free text terms: ozone, neck, cervical, spine, pain, disc, hernia, nucleolysis, paravertebral, treatment, and various combinations of them. In total, seven studies (two randomized controlled trials and five observational studies) were found. These studies dealt with the intradiscal or intramuscular paravertebral application of O2-O3 mixture in patients with myofascial pain syndrome, cervical disc hernias, and chronic neck pain. All these studies proved a significant decrease in neck pain (evaluated by Visual Analog Scale or Numerical Rating Scale), and most of them showed improvement in functional status (measured by Oswestry Disability Index or Neck Disability Index). In addition, other pain assessment scales and function and quality of life measures (DN4 questionnaire, pain pressure threshold, cervical lateral flexion range of motion, Japanese Orthopedic Association scale, 12- and 36-Item Short Form Surveys, modified MacNab criteria, and analgesic drug intake reduction) were used. Changes in these measurements also mostly supported the efficacy of O2-O3 treatment. No significant complications of the treatment were reported. The available evidence is sparse, but despite this, the O2-O3 treatment of musculoskeletal neck pain can be considered potentially beneficial and relatively safe.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030325
Authors: Martina Di Paolo Antonia Calabrese Guido Nosari Valentina Ciappolino Luisa Cirella Alice Caldiroli Enrico Capuzzi Massimo Clerici Massimiliano Buoli
Background: The present retrospective observational study aims to identify differences in clinical features and peripheral biomarkers among patients affected by substance-induced psychotic disorder (SIPD) according to the primary substance of abuse. Methods: A sample of 218 patients was divided into three groups according to the type of consumed substance: alcohol, cannabis, and psychostimulants. The three groups were compared using one-way analyses of variance (ANOVAs) for continuous variables and χ2 tests for qualitative variables. After excluding the alcohol-induced psychotic disorder group, the same analyses were repeated. The statistically significant variables from these subsequent analyses were included in a binary logistic regression model to confirm their reliability as predictors of cannabis- or psychostimulant-induced psychotic disorder. Results: Psychotic cannabis abusers were younger (p < 0.01), with illness onset at an earlier age (p < 0.01). Alcohol consumers presented a longer duration of illness (p < 0.01), more frequent previous hospitalizations (p = 0.04) and medical comorbidities (p < 0.01), and higher mean Modified Sad Persons Scale scores (p < 0.01). Finally, psychostimulant abusers had a higher frequency of lifetime history of poly-substance use disorders (p < 0.01). A binary logistic regression analysis revealed that higher mean Brief Psychiatric Rating Scale scores (p < 0.01) and higher sodium (p = 0.012) and hemoglobin (p = 0.040) plasma levels were predictors of cannabis misuse in SIPD patients. Conclusions: Different clinical factors and biochemical parameters con be associated with SIPD according to the main substance of abuse, thus requiring specific management by clinicians.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030324
Authors: Pierre-Etienne Serree Eugénie Bertin Camille Coussens Eleonore Brumpt Jean-François Devoti Aurélien Louvrier
Introduction: Several medical devices (MDs) are used to assist surgeons in positioning the upper dental arch (UDA) during Le Fort I osteotomies (LFIOs). Some only allow holding, others only positioning. This study aimed to assess the accuracy of a new MD (PirifixTM) coupling these two functions during LFIO on 3D-printed models. Materials and Methods: DICOM data were selected from patients who underwent surgical planning for LFIO between 27 July 2020 and 1 December 2022. Their anatomy was reproduced after segmentation, planning, and stereolithography in two models. Each model was assigned to one of two surgical groups: the control group (positioning by occlusal splint) and the PirifixTM group. Each patient’s model was planned with the objective of horizontalizing and recentering the UDA. After positioning, models were digitalized using Einscan Pro 2X and compared to the planned model with CloudCompare. The statistical analysis was performed using the Wilcoxon Mann–Whitney test. The result was considered significant if the p-value was less than 0.05. Results: Twenty-one patients were selected. Forty-two anatomical models were 3D-printed. The mean difference compared to the planned and corrected positions was 0.69 mm for the control group and 0.84 mm for the PirifixTM group (p = 0.036). Conclusion: PirifixTM may be a new alternative to available MDs. Further investigations are needed to describe the relationship between the device and facial soft tissues.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030323
Authors: Kusha Kalideen Brian Rayner Raj Ramesar
The African continent has the highest prevalence of hypertension globally, with South Africa reporting the highest prevalence in Southern Africa. While the influence of genetic variability in the pathogenesis of hypertension is well described internationally, limited reports are available for African populations. This study aimed to assess the association of genetic variants and essential hypertension in a cohort of two ethnic South African population groups. Two hundred and seventy-seven hypertensive and one hundred and seventy-six normotensive individuals were genotyped for 78 variants. Genotyping was performed using the Illumina GoldenGate Assay and allele-specific polymerase chain reaction. The association of variants was assessed using the Fisher Exact test under the additive and allelic genetic models, while multivariate logistic regression was used to predict the development of hypertension. Five variants (CYP11B2 rs179998, AGT rs5051 and rs699, AGTR1 rs5186, and ACE rs4646994) were significantly associated with essential hypertension in the cohort under study. Furthermore, AGTR1 rs5186 and AGT rs699 were identified as risk factors for the development of hypertension in both ethnic groups. In two ethnic South African populations, an association was observed between renin–angiotensin–aldosterone system (RAAS)-related genes and the development of hypertension.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030322
Authors: Andreea Grosu-Bularda Florin-Vlad Hodea Dragos Zamfirescu Alexandru Stoian Răzvan Nicolae Teodoreanu Ioan Lascăr Cristian Sorin Hariga
The field of transplantation, including the specialized area of vascularized composite allotransplantation (VCA), has been transformed since the first hand transplant in 1998. The major challenge in VCA comes from the need for life-long immunosuppressive therapy due to its non-vital nature and a high rate of systemic complications. Ongoing research is focused on immunosuppressive therapeutic strategies to avoid toxicity and promote donor-specific tolerance. This includes studying the balance between tolerance and effector mechanisms in immune modulation, particularly the role of costimulatory signals in T lymphocyte activation. Costimulatory signals during T cell activation can have either stimulatory or inhibitory effects. Interfering with T cell activation through costimulation blockade strategies shows potential in avoiding rejection and prolonging the survival of transplanted organs. This review paper aims to summarize current data on the immunologic role of costimulatory blockade in the field of transplantation. It focuses on strategies that can be applied in vascularized composite allotransplantation, offering insights into novel methods for enhancing the success and safety of these procedures.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030321
Authors: Antonio Herreros José Pérez-Calatayud Facundo Ballester Rosa Abellana Joana Neves Joana Melo Luis Moutinho Jordi Tarrats-Rosell Sergi Serrano-Rueda Luca Tagliaferri Elisa Placidi Angeles Rovirosa
(1) Background: High dose gradients and manual steps in brachytherapy treatment procedures can lead to dose errors which make the use of in vivo dosimetry (IVD) highly recommended for verifying brachytherapy treatments. A new procedure was presented to obtain a calibration factor which allows fast and robust calibration of plastic scintillation detector (PSD) probes for the geometry of a compact phantom using Monte Carlo simulations. Additionally, characterization of PSD energy, angular, and temperature dependences was performed. (2) Methods: PENELOPE/PenEasy code was used to obtain the calibration factor. To characterize the energy dependence of the PSD, the signal was measured at different radial and transversal distances. The sensitivity to the angular position was characterized in axial and azimuthal planes. (3) Results: The calibration factor obtained allows for an absorbed dose to water determination in full scatter conditions from ionization measured in a mini polymethylmethacrylate (PMMA) phantom. The energy dependence of the PSD along the radial distances obtained was (2.3 ± 2.1)% (k = 1). The azimuthal angular dependence measured was (2.6 ± 3.4)% (k = 1). The PSD response decreased by (0.19 ± 0.02)%/°C with increasing detector probe temperature. (4) Conclusions: The energy, angular, and temperature dependence of a PSD is compatible with IVD.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030320
Authors: Rocío Adriana Peinado-Molina Sergio Martínez-Vázquez Antonio Hernández-Martínez Juan Miguel Martínez-Galiano
Pelvic floor disorders, the impact of their symptoms, and their association with sleep quality and sleep disorders is a little studied area. The aim of this study was to determine if an association exists between pelvic floor disorders in women and sleep disorders. An observational study was conducted among women in Spain during 2021 and 2022. A self-developed questionnaire was used to collect sociodemographic and employment data, previous medical history and health status, lifestyle and habits, obstetric history, and health problems. A validated questionnaire, the Pittsburgh Sleep Quality Index (PSQI), was used to assess the quality of sleep. The presence and impact of pelvic floor problems was assessed with the Pelvic Floor Distress Inventory (PFDI-20). Odds ratios (OR) and adjusted odds ratios (aOR) with their respective 95% confidence intervals were calculated using logistic regression. A total of 1396 women participated in the study. The total PSQI indicated that 75.36% (1052) of women have altered general sleep quality. Women with pelvic floor disorders have a higher probability of developing sleep alterations (aOR: 1.32; 95% CI: 1.22–1.42; for every 20 points). A high BMI (aOR: 1.04; 95% CI: 1.01–1.07; for each point) and the presence of musculoskeletal disorders (aOR: 3.14; 95% CI: 1.20–8.27) are also associated with sleep quality in women. Women with pelvic floor disorders are more likely to develop sleep disorders, probably due to all the discomfort they entail.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030319
Authors: Palle Duun Rohde
Genomics has been forecasted to revolutionise human health by improving medical treatment through a better understanding of the molecular mechanisms of human diseases. Despite great successes of the last decade’s genome-wide association studies (GWAS), the results have been translated to genomic medicine to a limited extent. One route to get closer to improved medical treatment could be by understanding the genetics of medication use. Current medication profiles from 335,744 individuals from the UK Biobank were obtained, and a GWAS was conducted to identify common genetic variants associated with current medication use. In total, 59 independent loci were identified for medication use, and approximately 18% of the total variation was attributable to common genetic variation. The largest fraction of genetic variance for current medication use was captured by variants with low-to-medium minor allele frequency, with coding, conserved genomic regions and transcription start sites being enriched for associated variants. The average correlation (R) between medication use and the polygenic score was 0.14. The results further demonstrated that individuals with higher polygenic burden for medication use were, on average, sicker and had a higher risk for adverse drug reactions. These results provide an insight into the genetic contribution of medication use and pave the way for developments of novel multiple trait polygenic scores, which include the genetically informed medication use.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030318
Authors: Ruxandra-Mioara Rajnoveanu Antonia Harangus Doina Adina Todea Milena Adina Man Corina Eugenia Budin Armand-Gabriel Rajnoveanu
Chronic Obstructive Pulmonary Disease (COPD) is a complex condition with significant impact on prognosis, especially in advanced stages where symptom burden becomes critical. Breathlessness affects patients’ quality of life, and despite various therapeutic strategies, the role of opioids in palliative care for COPD remains under investigation. The acceptance of a therapeutic trial of different types of opioids is increasing not only in end-of-life situations but also for stable COPD patients experiencing intolerable refractory breathlessness despite optimal conventional therapy. Recent clinical trials have raised questions about the overall clinical benefit of opioids in addressing breathlessness in COPD, prompting the need to clarify inconsistencies and identify specific subgroups that may benefit from opioid therapy. In the clinical setting, it is crucial to understand the attributes of patients who exhibit positive responses to opioids and what type of opioids could have a positive impact. This research paper aims to offer an update of the most recent evidence of opioid treatment in managing breathlessness among individuals with COPD with a head-to-head evaluation of the supporting and opposing proof in the medical literature.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030317
Authors: Aldona Wierzbicka-Rucińska Izabela Kubiszewska Renata Grzywa-Czuba Lidia Gackowska Mieczysław Szalecki Jacek Michałkiewicz Joanna Beata Trojanek
Objectives: Matrix metalloproteinases (MMPs) are calcium-dependent zinc-containing endo-peptidases engaged in many biological processes including adipogenesis, angiogenesis, and tissue remodeling. Fat tissue infiltration by peripheral leukocytes plays an important role in transition of fat tissue residual, non-inflammatory status into the pro-inflammatory one, resulting in fat tissue inflammation and expansion as well as production of many mediators like adipokines and cytokines. The aim of this study was to investigate the expression of MMPs, their endogenous tissue inhibitors (TIMPs), and selected inflammatory mediators in leukocytes and plasma of children with simple obesity to find their associations with obesity-related phenotypes. Material and methods: Twenty-six overweight/obese children and twenty-three healthy volunteers participated in the study. The leukocyte mRNA expression levels of MMP-2, -9, -12 -14, TIMP-1, -2, and IL-6 were analyzed by the real time quantitative PCR. Plasma MMP-9/TIMP-1 and MMP-2/TIMP-2 ratios as well as the concentrations of MMP-9, TIMP-1, IL-1 beta, IL-6, TNF- alpha, leptin and resistin were tested by ELISA assays. Gelatin zymography was used to assess the activity of the leukocyte MMPs proteins. Results: The obese children showed the following: a) increased expression of leukocyte TIMP-1 and slight elevation (close to statistical significance) of leukocyte MMP-9 (p = 0.054), the decline in MMP-2, b) elevation of plasma MMP-9, leptin, and MMP9/TIMP1 ratio, c) reduced expression of plasma TNF-alpha and MMP-2/TIMP-2 ratio. Several negative correlations were found: TIMP2 vs. ALT (r = −0.536), AST (r = −0.645) and TTG (r = −0.438), IL-6 vs. GGTP (r = −0.815), and MMP12 vs. TTG (r = −0.488), leptin vs. ALT (r = −0.569), MMP-9 vs. total cholesterol (r = −0.556). The only positive correlation was that of plasma leptin level vs. GGTP (r = 0.964). Conclusions: At the beginning of obesity development (children), possibly compensatory reactions prevail, reflected here by an increase in the expression of leukocyte MMPs inhibitor TIMP-1, decrease in the level of leukocyte MMP-2 and plasma MMP-2, MMP2/TIMP-2 ratio, low plasma TNF-alpha and negative correlations between the expression of TIMP-2 and liver (AST, ALT) or fat (TTG) inflammatory markers.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030316
Authors: Hayoung Park Se Young Jung Min Kyu Han Yeonhoon Jang Yeo Rae Moon Taewook Kim Soo-Yong Shin Hee Hwang
This study investigates the feasibility of accurately predicting adverse health events without relying on costly data acquisition methods, such as laboratory tests, in the era of shifting healthcare paradigms towards community-based health promotion and personalized preventive healthcare through individual health risk assessments (HRAs). We assessed the incremental predictive value of four categories of predictor variables—demographic, lifestyle and family history, personal health device, and laboratory data—organized by data acquisition costs in the prediction of the risks of mortality and five chronic diseases. Machine learning methodologies were employed to develop risk prediction models, assess their predictive performance, and determine feature importance. Using data from the National Sample Cohort of the Korean National Health Insurance Service (NHIS), which includes eligibility, medical check-up, healthcare utilization, and mortality data from 2002 to 2019, our study involved 425,148 NHIS members who underwent medical check-ups between 2009 and 2012. Models using demographic, lifestyle, family history, and personal health device data, with or without laboratory data, showed comparable performance. A feature importance analysis in models excluding laboratory data highlighted modifiable lifestyle factors, which are a superior set of variables for developing health guidelines. Our findings support the practicality of precise HRAs using demographic, lifestyle, family history, and personal health device data. This approach addresses HRA barriers, particularly for healthy individuals, by eliminating the need for costly and inconvenient laboratory data collection, advancing accessible preventive health management strategies.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030315
Authors: Valeria Tutino Valentina De Nunzio Rossella Donghia Emanuela Aloisio Caruso Anna Maria Cisternino Palma Aurelia Iacovazzi Anna Margherita Mastrosimini Elizabeth Alicia Fernandez Vito Giannuzzi Maria Notarnicola
Metabolic dysfunction-associated hepatic steatosis (MAFLD) indicates the metabolic risk associated with hepatic steatosis, overweight and obesity, and clinical evidence of metabolic dysregulation. Since MAFLD is one of the diseases that show a high frequency of alterations in the lipid content of cell membranes, the aim of this study was to evaluate the indices of oxidative damage of erythrocyte membranes in overweight and obese MAFLD subjects. The study was conducted on serum samples and red blood cell membranes of overweight and obese MAFLD subjects. For each patient, biochemical measurements and lipidomic analyses of erythrocytes membranes were performed. Significant differences in fatty acid profiles of RBC membranes were found between overweight and obese patients. In particular, the Peroxidation Index (PI) was higher in the erythrocyte membranes of obese subjects than in overweight subjects. The same behavior was observed for Unsaturation Index (UI) and Free Radical Stress Index (Free RSI), supporting the fact that the systemic increase in oxidative stress was associated with obesity. The study shows that there is a different susceptibility to erythrocyte membrane peroxidation for overweight and obese subjects, and the increased values of oxidative stress indices observed in the erythrocyte membranes of obese patients with MAFLD may be a possible indicator of pro-oxidative events occurring in obesity-related diseases.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030314
Authors: Serdar Senol Servet Karagul
The hemidouble stapler technique (HDST) in laparoscopic intracorporeal esophagojejunostomy has aspects that pose risks to the safety of the anastomosis. We developed a new esophagojejunostomy technique that converts a double-stapled anastomosis to a single-stapled anastomosis in laparoscopic total gastrectomy (LTG). The aim of this study is to compare the results of two techniques. Patients who underwent LTG for gastric cancer in our hospital between October 2016 and May 2022 were included in the study. Patients were retrospectively reviewed in two groups: those who underwent HDST and the ghosting double stapling technique (GDST). Both groups were analysed in terms of demographics, perioperative findings, and postoperative outcomes. The GDST was used in 14 patients. The HDST was used on 16 patients. Two patients in the HDST group whose esophagojejunal anastomosis was not assessed on endoscopic imaging were excluded. The mean total operative times were 292.6 ± 43.7 and 224.3 ± 36.1 min (p < 0.001). The mean times for esophagojejunostomy were 38.6 ± 4.3 and 26.8 ± 6.4 min (p < 0.001). One case of anastomotic stenosis was observed in the HDST group. Anastomotic leakage was not observed in both groups. However, there was no significant difference in overall morbidity between the groups (p > 0.05). Both HDST and GDST can be safely performed in the esophagojejunostomy for LTG.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030313
Authors: Charikleia S. Vrettou Alice G. Vassiliou Chrysi Keskinidou Panagiotis Mourelatos Andreas Asimakos Stavroula Spetsioti Aristidis Diamantopoulos Edison Jahaj Archontoula Antonoglou Paraskevi Katsaounou Dimitra A. Vassiliadi Anastasia Kotanidou Ioanna Dimopoulou
Background: this prospective observational study aims to assess serum levels of glial fibrillary acidic protein (GFAP), s100b, and total Tau in long-COVID patients, exploring correlations with symptoms, cognitive decline, mental health, and quality of life. Methods: Long-COVID patients visiting our outpatient clinic (February 2021–December 2022) were screened alongside age- and sex-matched controls. GFAP, s100b, and total Tau in serum were measured with ELISA. Cognitive function, depression, anxiety, post-traumatic stress disorder, and quality of life were evaluated using MoCA, HADS (depression and anxiety), IES-R, and SF-36, respectively. Results: Sixty-five long-COVID patients and 20 controls were included. GFAP levels were significantly higher in long-COVID patients (p = 0.031), though not correlating with the presence of long-COVID symptoms. S100b and total Tau showed no significant differences between patients and controls. Nervous system-related symptoms were reported in 47% of patients. High rates of cognitive decline (65.9%), depression (32.2%), anxiety (47.5%), and post-traumatic stress disorder (44.1%) were observed. Over 80% of the study population scored below normative cutoffs for SF-36, indicating a significant impact on quality of life. Conclusions: in this long-COVID cohort with substantial psychological and cognitive symptoms, GFAP levels were elevated compared to controls, though not correlating with the presence of long-COVID symptoms.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030312
Authors: Ji Eun Choi Kyung-Hee Kim Younju Lee Dong-Wook Kang
Given the widespread use of whole slide imaging (WSI) for primary pathological diagnosis, we evaluated its utility in assessing histological grade and biomarker expression (ER, PR, HER2, and Ki67) compared to conventional light microscopy (CLM). In addition, we explored the utility of digital image analysis (DIA) for assessing biomarker expression. Three breast pathologists assessed the Nottingham combined histological grade, its components, and biomarker expression through the immunohistochemistry of core needle biopsy samples obtained from 101 patients with breast cancer using CLM, WSI, and DIA. There was no significant difference in variance between the WSI and CLM agreement rates for the Nottingham grade and its components and biomarker expression. Nuclear pleomorphism emerged as the most variable histologic component in intra- and inter-observer agreement (kappa ≤ 0.577 and kappa ≤ 0.394, respectively). The assessment of biomarker expression using DIA achieved an enhanced kappa compared to the inter-observer agreement. Compared to each observer’s assessment, DIA exhibited an improved kappa coefficient for the expression of most biomarkers with CLM and WSI. Using WSI to assess prognostic and predictive factors, including histological grade and biomarker expression in breast cancer, is acceptable. Furthermore, incorporating DIA to assess biomarker expression shows promise for substantially enhancing scoring reproducibility.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030311
Authors: Abhijit Nair Nitinkumar Borkar Sunil Subhash Murke Ujjwalraj Dudhedia
(1) Background: Supraglottic airway devices (SAD) have been used in children and adolescents undergoing adenotonsillectomies under general anesthesia. This systematic review and meta-analysis investigate the safety and efficacy of using SADs when compared to an endotracheal tube (ETT). (2) Methods: After registering with PROSPERO, databases like PubMed, Scopus, OviD, CINAHL, and Cochrane Library were searched using relevant keywords from the year 2000. We used RoB-2 for risk-of-bias assessment, GRADE for assessing the quality of evidence, RevMan 5.2 for qualitative meta-analysis, and trial sequential analysis (TSA) to corroborate the significant findings of meta-analysis. (3) Results: Out of 200 studies, 5 randomized-controlled trials fulfilled inclusion criteria. The quality of evidence was moderate for laryngospasm, low for airway device failure, and very low for recovery time. The incidence of laryngospasm was comparable between SADs and ETT (RR: 0.80, 95% CI-0.36, 1.80, p = 0.59). The incidence of airway device failure was significantly higher with SADs than ETT (RR: 11.29, 95% CI: 2.73, 46.66, p = 0.0008). The postoperative recovery time was significantly less with SADs than with ETT use (MD: −4.33, 95% CI: −5.28, −3.39, p < 0.0001), which was confirmed by the TSA. (4) Conclusions: The results of this review suggests that use of SADs can provide a lesser postoperative recovery time and comparable incidence of laryngospasm, with a higher incidence of failure of SAD when compared to ETT. Use of SAD for pediatric and adolescent adenotonsillectomies should be individualized based on patient characteristics, and on the expertise of the anesthesiologist and the surgeons involved.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030310
Authors: Sławomir Mika Wojciech Gola Monika Gil-Mika Mateusz Wilk Hanna Misiołek
Artificial intelligence has now changed regional anesthesia, facilitating, therefore, the application of the regional block under the USG guidance. Innovative technological solutions make it possible to highlight specific anatomical structures in the USG image in real time, as needed for regional block. This contribution presents such technological solutions as U-Net architecture, BPSegData and Nerveblox and the basis for independent assisting systems in the use of regional blocks, e.g., ScanNav Anatomy PNB or the training system NeedleTrainer. The article describes also the systems integrated with the USG devices, such as Mindray SmartNerve or GE cNerve as well as the robotic system Magellan which substantially increases the patient’s safety, time needed for the regional block and quality of the procedure. All the solutions presented in this article facilitate the performance of regional blocks by less experienced physicians and appear as an excellent educational tool which, at the same time, improves the availability of the more and more popular regional anesthesia. Will, therefore, artificial intelligence replace physicians in regional block procedures? This seems unlikely. It will, however, assist them in a significant manner, contributing to better effectiveness and improved safety of the patient.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030309
Authors: Masayuki Kojima Atsushi Sugioka Yutaro Kato
(1) Background: With the increasing demand for repeat hepatectomy, preventing perihepatic adhesion formation following initial hepatectomy is crucial. Adhesion-preventative barriers, like the new spray-type AdSprayTM (Terumo Corporation, Tokyo, Japan), have been proposed to reduce adhesion risk. However, data on their safety in minimally invasive hepatectomy (MIH) remain scarce. This is the first prospective study to evaluate the safety and feasibility of AdSprayTM in MIH. (2) Methods: A total of 124 patients who underwent MIH with AdSprayTM and 20 controls were analyzed. Subgroup analysis according to the AdSpray™ application area was conducted. Major complications were assessed using the Clavien–Dindo classification. Moreover, intraperitoneal pressure during AdSpray™ application was monitored in 20 cases. (3) Results: Major complications occurred in 6.4% of the patients, which was comparable to that in open hepatectomy. Intraperitoneal pressure remained stable below 12 mmHg during AdSpray™ application without any complications. No significant difference in complication rates was observed among subgroups. However, a potential increase in intra-abdominal abscess formation was suspected with AdSpray™ application to the resected liver surfaces. (4) Conclusions: AdSpray™ can be safely used in MIH; however, further research is needed to confirm the appropriacy of using AdSpray™, particularly over resected liver surfaces. Overall, AdSpray™ is a promising tool for enhancing the safety of MIH.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030308
Authors: Roberto Franceschi
The Special Issue “Diabetes Mellitus: Current Research and Future Perspectives” is focused on the importance of customized medicine in monogenic diabetes of the young (MODY) and type 2 diabetes (T2D) [...]
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030307
Authors: Zsolt Kőszegi Gábor Tamás Szabó
Personalized medicine shows promise for the management of patients with coronary artery disease (CAD) [...]
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030306
Authors: Kei Ito Wataru Takayama Yasuhiro Otomo Akihiko Inoue Toru Hifumi Tetsuya Sakamoto Yasuhiro Kuroda on behalf of the SAVE-J II Study Group on behalf of the SAVE-J II Study Group
The prognosis for patients with out-of-hospital cardiac arrest (OHCA) has been reported to be worse in the cold season. On the other hand, it is unclear whether a similar trend exists in OHCA patients who are treated with extracorporeal cardiopulmonary resuscitation (ECPR). This study was a retrospective multicenter registry study. We examined the association between ECPR and season. We compared the prognosis in four seasonal groups according to the day of occurrence. Multivariable logistic regression analysis was performed for the assessment of clinical and neurological outcomes. A total of 2024 patients with OHCA who received ECRP were included. There were no significant differences in in-hospital mortality (p = 0.649) and in the rate of favorable neurological outcome (p = 0.144). In the multivariable logistic regression, the seasonal factor was not significantly associated with worse in-hospital mortality (p = 0.855) and favorable neurological outcomes (p = 0.807). In this study, there was no seasonal variation in OHCA patients with ECPR.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030305
Authors: Vicente Javier Clemente-Suárez Helia Carmen Peris-Ramos Laura Redondo-Flórez Ana Isabel Beltrán-Velasco Alexandra Martín-Rodríguez Susana David-Fernandez Rodrigo Yáñez-Sepúlveda José Francisco Tornero-Aguilera
In recent years, although life expectancy has increased significantly, non-communicable diseases (NCDs) continue to pose a significant threat to the health of the global population. Therefore, eating habits have been recognized as key modifiable factors that influence people’s health and well-being. For this reason, it is interesting to study dietary patterns, since the human diet is a complex mixture of macronutrients, micronutrients, and bioactive compounds, and can modulate multiple physiological processes, including immune function, the metabolism, and inflammation. To ensure that the data we acquired were current and relevant, we searched primary and secondary sources, including scientific journals, bibliographic indexes, and databases in the last 15 years with the most relevant articles. After this search, we observed that all the recent research on NCDs suggests that diet is a critical factor in shaping an individual’s health outcomes. Thus, cardiovascular, metabolic, mental, dental, and visual health depends largely on the intake, habits and patterns, and nutritional behaviors. A diet high in processed and refined foods, added sugars, and saturated fats can increase the risk of developing chronic diseases. On the other hand, a diet rich in whole, nutrient-dense foods, such as vegetables, fruits, nuts, legumes, and a high adherence to Mediterranean diet can improve health’s people.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030304
Authors: Matthew P. Confer Kianoush Falahkheirkhah Subin Surendran Sumsum P. Sunny Kevin Yeh Yen-Ting Liu Ishaan Sharma Andres C. Orr Isabella Lebovic William J. Magner Sandra Lynn Sigurdson Alfredo Aguirre Michael R. Markiewicz Amritha Suresh Wesley L. Hicks Praveen Birur Moni Abraham Kuriakose Rohit Bhargava
Oral potentially malignant disorders (OPMDs) are precursors to over 80% of oral cancers. Hematoxylin and eosin (H&E) staining, followed by pathologist interpretation of tissue and cellular morphology, is the current gold standard for diagnosis. However, this method is qualitative, can result in errors during the multi-step diagnostic process, and results may have significant inter-observer variability. Chemical imaging (CI) offers a promising alternative, wherein label-free imaging is used to record both the morphology and the composition of tissue and artificial intelligence (AI) is used to objectively assign histologic information. Here, we employ quantum cascade laser (QCL)-based discrete frequency infrared (DFIR) chemical imaging to record data from oral tissues. In this proof-of-concept study, we focused on achieving tissue segmentation into three classes (connective tissue, dysplastic epithelium, and normal epithelium) using a convolutional neural network (CNN) applied to three bands of label-free DFIR data with paired darkfield visible imaging. Using pathologist-annotated H&E images as the ground truth, we demonstrate results that are 94.5% accurate with the ground truth using combined information from IR and darkfield microscopy in a deep learning framework. This chemical-imaging-based workflow for OPMD classification has the potential to enhance the efficiency and accuracy of clinical oral precancer diagnosis.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030303
Authors: Chul-Ho Kim Keunho Kim Yeonjoo Choi
Benign paroxysmal positional vertigo (BPPV) is a common vestibular disorder characterized by episodic vertigo. BPPV primarily affects older adults. Thus, understanding the potential relationship between BPPV and osteoporosis is clinically important. We performed a systematic search of MEDLINE (PubMed), Embase, and Cochrane Library databases for studies on the risk of osteoporosis between BPPV (+) and BPPV (−) groups up until 17 April 2023. We compared osteoporosis prevalence between groups and performed subgroup analyses for male, female, and older patients (aged ≥ 55 years). The 12 studies included 32,460 patients with BPPV and 476,304 controls. Pooled analysis showed that the BPPV (+) group had a significantly higher osteoporosis risk than the control group (odds ratio [OR], 1.73; 95% confidence interval [CI], 1.45–2.06; p < 0.01). Subgroup analyses also presented similar trends as male (OR, 2.41; 95% CI, 1.18–4.90; p = 0.02), female (OR, 2.14; 95% CI, 1.57–2.92; p < 0.001), and older patient subgroups (OR, 1.91; 95% CI, 1.47–2.49; p < 0.01) showed a higher osteoporosis risk in the BPPV (+) group than in the control group. This meta-analysis supports the hypothesis that patients with BPPV have a higher osteoporosis prevalence than those without.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030302
Authors: Silvia Teresa Scalera Alessandra Pizzuto Pietro Marchese Massimiliano Cantinotti Eliana Franchi Chiara Marrone Nadia Assanta Giuseppe Santoro
Despite significant improvements in techniques, the treatment of neonates and infants with congenital heart disease resulting in duct-dependent pulmonary circulation is still significantly challenging. Despite current trends toward early primary surgical repair, temporary palliation is still necessary in those patients who are at high surgical risk for complete correction due to unfavorable clinical or anatomic characteristics. Recent advances in interventional cardiology have led to the emergence of right ventricular outflow tract and arterial duct stenting as cost-effective alternatives to surgical palliation in high-risk surgical candidates or whenever short-term pulmonary blood flow support is anticipated. This review aims to explore the evolving landscape of these transcatheter approaches, highlighting their role, efficacy and potential complications in the context of duct-dependent pulmonary circulation anatomies.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030301
Authors: Jonathan Lettner Lars Graventein Hassan Tarek Hakam Nikolai Ramadanov Roland Becker Robert Prill
Background: The investigation of soft tissue stiffness has garnered increasing interest due to its potential applications in detecting tissue conditions, monitoring therapy effects, and preventing sports injuries. This study utilized the MyotonPro as a reliable measurement device to assess muscle stiffness and muscle frequency in the vastus lateralis and medialis muscles of both the dominant and non-dominant legs. Methods: Sixteen young, healthy subjects (seven males and nine females, age 25 ± 3.46 years) participated in this study. To induce maximal muscle fatigue, the vastus lateralis and vastus medialis muscles were subjected to a 30 kg load using a single-leg leg press. Pre- and post-fatigue measurements were conducted by two testers on the dominant and non-dominant legs, respectively, employing the MyotonPro. Results: We revealed a significant increase in muscle stiffness after maximal muscle fatigue. Specifically, on the dominant side, the vastus lateralis exhibited a stiffness increase of 6.5%, while the vastus medialis showed a 6.3% increase. On the non-dominant side, the vastus lateralis demonstrated a 7.6% increase, and the vastus medialis exhibited a 6.7% increase in muscle stiffness. Furthermore, muscle frequency increased by 8.6% (vastus lateralis) and 13.5% (vastus medialis) on the dominant side and by 15.1% (vastus lateralis) and 6.3% (vastus medialis) on the non-dominant side. The reliability of the measurements varied, with Cronbach’s alpha values ranging from inadequate 0.49 to very good 0.88. Conclusion: This study affirms the efficacy of the MyotonPro as a measurement device for assessing muscle stiffness and establishes its reliability. The observed increase in muscle stiffness after maximal muscle fatigue, accompanied by changes in muscle frequency, underscores the device’s utility. However, further research is warranted to validate the reproducibility of these findings and explore additional facets of the muscular response to fatigue.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030300
Authors: Eleni Bonti Irini K. Zerva Christiana Koundourou Maria Sofologi
The boundaries between neurodevelopmental disorders are often indistinct, even among specialists. But do these boundaries exist, or do experts struggle to distinguish and categorize symptoms in order to arrive at a dominant diagnosis while comorbidity continually leaves questions about where each disorder ends and begins? What should be reconsidered? The introduction of the term ‘spectrum of neurodevelopmental disorders’ could pave the way for a re-appraisal of the clinical continuum of neurodevelopmental disorders. This study aims to highlight the problems that emerge in the field of the differential diagnosis of neurodevelopmental disorders and propose a renegotiation of the distinctiveness criteria.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030299
Authors: Corina Daniela Ene Mircea Penescu Ilinca Nicolae Cristina Capusa
Recently, arginine has been proven to play an important role in ADPKD physiopathology. Arginine auxotrophy in ADPKD induces cell hyperproliferation, blocking the normal differentiation of renal tube cells and causing cyst formation. We explored the L-arginine (Arg)–nitric oxide (NO) molecular pathway in ADPKD, a multisystemic arginine auxotrophe disease. We developed a prospective case–control study that included a group of 62 ADPKD subjects with an estimated filtration rate over 60 mL/min/1.73 mp, 26 subjects with chronic kidney disease with an eGFR > 60 mL/min/1.73 mp, and a group of 37 healthy subjects. The laboratory determinations were the serum level of arginine, the enzymatic activity of arginase 2 and inducible nitric oxide synthase, the serum levels of the stable metabolites of nitric oxide (nitrate, direct nitrite, and total nitrite), and the endogenous inhibitors of nitric oxide synthesis (asymmetric dimethylarginine and symmetric dimethylarginine). In the ADPKD group, the levels of the arginine and nitric oxide metabolites were low, while the levels of the metabolization enzymes were higher compared to the control group. Statistical analysis of the correlations showed a positive association between the serum levels of Arg and the eGFR and a negative association between Arg and albuminuria. ADPKD is a metabolic kidney disease that is auxotrophic for arginine. Exploring arginine reprogramming and L-Arg–NO pathways could be an important element in the understanding of the pathogenesis and progression of ADPKD.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030298
Authors: Claudio Liguori Francesco Frontani Giulia Francescangeli Mariangela Pierantozzi Rocco Cerroni Tommaso Schirinzi Alessandro Stefani Nicola Biagio Mercuri Giovanni Galeoto
Introduction: Sleep disorders are frequent non-motor symptoms affecting patients with Parkinson’s disease (PD). Insomnia represents the most common sleep disorder. Parkinson’s disease Sleep Scale 2 (PDSS-2) is a specific tool to investigate sleep problems in PD. The General Sleep Disturbances Scale (GSDS) was a general scale validated for the Italian population. Our goal was to assess the psychometric characteristics of PDSS-2 and the GSDS in this population, calculating a cut-off score for insomnia symptoms by using subitems of PDSS-2. Methods: Patients admitted at the PD Unit of the Hospital of Rome Tor Vergata outpatient clinic and those afferent to PD associations were asked to complete PDSS-2 and GSDS to be correlated to identify a cut-off for insomnia symptoms. Items 1,2,3,8,13 of PDSS-2 were used to detect insomnia. An ROC curve to assess a cut-off score for insomnia was determined. A cross-cultural analysis of PD population characteristics was performed. Results: In total, 350 PD patients were recruited. Cronbach’s alpha was high for the total score (0.828 for PDSS-2 and 0.832 for GSDS). A cross-cultural analysis did not show any significant p-value. The ROC curve yielded an AUC of 0.79 (CI: 0.75–0.84). The cut-off value for insomnia disorder based on items 1,2,3,8,13 of PDSS-2 was >10, demonstrating a sensitivity of 76% and a specificity of 69% in determining the presence of subjective insomnia symptoms in PD. Discussion: PDSS-2 is demonstrated to be a valid, specific tool to address sleep disturbances in PD patients. A cut-off score of 10 for items 1,2,3,8,13 was identified for detecting insomnia symptoms in PD patients.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030297
Authors: Carlo Cavaliere Simonetta Masieri Elona Begvarfaj Antonella Loperfido Silvia Baroncelli Francesca Cascone Andrea Ciofalo
Introduction: Chronic rhinosinusitis with nasal polyps (CRSwNP) is an inflammatory disease with multifactorial etiopathogenesis. This study investigated the recurrence rate and risk factors predicting recurrence in patients subjected to Functional Endoscopic Sinus Surgery (FESS) for CRSwNP. Methods: Patients affected by CRSwNP who underwent FESS between January 2015 and March 2020 were enrolled. The recurrence rate and the influence of risk factors were assessed. Results: A total of 154 patients were included, 100 males and 54 females, aged 14–82 years (mean age 51.96 ± 16.27; median 52 years). Of 154 patients, 28 presented CRSwNP recurrence in a follow-up period ranging from 6 months to 69 months, with a recurrence rate of 18.2%. The recurrence rate was higher in patients aged between 31 and 50 years and between 51 and 70 years at the time of surgery than in those aged between 14 and 30 years and over 70 years. Furthermore, most patients with recurrence were men (61%), while 39% were women. A higher recurrence rate was observed between non-smokers (50%) and ex-smokers (36%), while only 14% declared themselves habitual smokers. Only four subjects (14%) had a positive family history of CRSwNP. Conclusion: To date, no specific biomarkers have been identified in order to determine the appropriate therapy for the patients affected by CRSwNP. Based on our results, we suggest that it is necessary for an accurate assessment of the CRSwNP patients to identify which phenotype/endotype each subject manifests based on medical history, endoscopy, computed tomography, and a laboratory evaluation.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030296
Authors: Chiwon Ahn Yeonkyung Park
This study aimed to assess the impact of the pandemic on hospitalization and mortality rates among patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). We conducted a systematic search across three medical databases for studies comparing the AECOPD mortality and hospitalization rates during the COVID-19 pandemic with those before the pandemic, up until December 2023. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and Meta-analysis of Observational Studies in Epidemiology guidelines, we performed a meta-analysis with a random-effects model to pool odds ratios (ORs), 95% confidence intervals (CIs), and heterogeneity (I2). From 4689 records, 21 studies met our inclusion criteria. Our analysis revealed a significant increase in in-hospital mortality during the pandemic (pooled OR = 1.27, 95% CI = 1.17–1.39, I2 = 50%). Subgroup analysis highlighted a more pronounced mortality risk in single-center studies and smaller populations. Conversely, hospitalization rates for AECOPD significantly declined during the pandemic (pooled OR = 0.39, 95% CI = 0.18–0.85, I2 = 99%). The study demonstrates that during the COVID-19 pandemic, there was a substantial decrease in hospital admissions for AECOPD and an increase in in-hospital deaths. This shows that better healthcare plans and pandemic preparedness are needed to help people with chronic conditions.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030295
Authors: Corina Daniela Ene Milena Tocut Mircea Tampa Simona Roxana Georgescu Clara Matei Iulia Maria Teodora Leulescu Ilinca Nicolae Cosmin Ene
Introduction. Research regarding the role of the IL-12 cytokine family in modulating immune and inflammatory responses is continuously evolving. In this study, the contribution of the p35 and p40 subunits as monomers (noted as IL-12p35 and IL-12p40) and heterodimers (noted as IL-12p70 or IL-12p35/p40) was analysed in the pathophysiology and progression of chronic spontaneous urticaria (CSU). Materials and methods. We conducted a longitudinal, case–control study involving 42 CSU cases and 40 control cases comprising adults without associated conditions. Serial measurements were performed to assess the serum levels of IL-12p70, IL-12p35, and IL-12p40 at the onset of the disease (pre-therapy phase) and 6 weeks after the initiation of the treatment (post-therapy phase). Results. During the pre-therapeutic phase of CSU, elevated serum levels of IL-12 cytokine subtypes were detected compared to the control group. The relationship between IL-12 profiles and the course of CSU highlighted the pro-inflammatory role of IL-12p70 and the anti-inflammatory role of IL-12p35. Significant correlations were observed between IL-12p70 levels and the duration of the disease, as well as between IL-12 and the effectiveness of H1-antihistamines. Conclusions. The molecular background for the pleiotropic activities mediated by IL-12-derived cytokines in patients with CSU lies in the strict regulation of the production, signalling pathways, and cytokine-specific influences on the same pathophysiological events. The results of the present study suggest that the superficial layers of the skin serve as a cellular source of IL-12, a cytokine produced through antigenic stimulation. In patients with CSU, we identified independent, additive, or divergent functions of IL-12p70, IL-12p35, and IL-12p40, all relevant to systemic inflammation. These findings prove that the prototype programming of IL-12 is abnormal in CSU.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030294
Authors: Nils-Claudius Gellrich Philippe Korn Philipp Jehn Michael Neuhaus Fritjof Lentge Björn Rahlf
Defects and bone loss in the maxilla and mandible pose significant challenges for dental rehabilitation. This paper focuses on complex cases of bimaxillary dental rehabilitation, where traditional dental implant protocols were not feasible in at least one jaw. Four patients were examined conceptually, where conventional dental implant placement (n = 20) was combined in either the same or opposite jaw with a patient-specific subperiosteal implant (n = 5). This study evaluates aspects such as primary stability, prosthodontic restoration, complications, and soft tissue management over the observation period. None of the five patient-specific subperiosteal implants (IPS Implants® Preprosthetic; KLS-Martin Group, Tuttlingen, Germany) experienced failure or showed any loosening of screws, with the longest observation period extending to 68 months. These implants were securely fixated away from the posts, without any biomechanical restrictions on loading from the time of insertion. Planning and manufacturing, including the initial suprastructure, followed a fully digital workflow. The number of screws required for multivector fixation ranged from 13 to 22. All dental implants placed remain functional, definitive prosthodontic restoration has been performed, and no stability loss or peri-implantitis has been observed. The IPS Implants® Preprosthetic emerges as a valuable consideration when conventional implant dentistry protocols encounter limitations.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030293
Authors: Adina Maria Marza Claudiu Barsac Dumitru Sutoi Alexandru Cristian Cindrea Alexandra Herlo Cosmin Iosif Trebuian Alina Petrica
Synchronous electrical cardioversion is a relatively common procedure in the emergency department (ED), often performed for unstable supraventricular tachycardia (SVT) or unstable ventricular tachycardia (VT). However, it is also used for stable cases resistant to drug therapy, which carries a risk of deterioration. In addition to the inherent risks linked with procedural sedation, there is a possibility of malignant arrhythmias or bradycardia, which could potentially result in cardiac arrest following this procedure. Here, we present a case of complete heart block unresponsive to transcutaneous pacing and positive inotropic and chronotropic drugs for 90 min, resulting in multiple cardiac arrests. The repositioning of the transcutaneous cardio-stimulation electrodes, one of them placed in the left latero-sternal position and the other at the level of the apex, led to immediate stabilization of the patient. The extubation of the patient was performed the following day, with full recovery and discharge within 7 days after the insertion of a permanent pacemaker.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030292
Authors: Walter Sapuppo Davide Giacconi Vincenzo Monda Antonietta Messina Salvatore Allocca Sergio Chieffi Mariateresa Ricci Ines Villano Daniele Saccenti Claudia Maria Mineo Margherita Boltri Marcellino Monda Girolamo Di Maio Antonietta Monda Marco La Marra
The developing domain of mental health in sports has gained much interest, acknowledging its pivotal role in athlete performance and well-being. The aim of this research is to provide a quantitative description concerning the levels of mental health, physical activity, cognitive fusion, cognitive flexibility, and coping strategies that characterize rugby athletes by using a data-driven approach. A total of 92 rugby athletes took part in this study and filled out a set of self-administered questionnaires. A correlational analysis showed that general well-being was positively associated with years spent playing rugby (r = 0.23) and coping mechanisms (r = 0.29). Athletes’ well-being was also negatively correlated with cognitive inflexibility (r = −0.41) and cognitive fusion (r = −0.39). A k-means cluster analysis identified two unique groups: group 1, characterized by higher levels of psychological well-being, lower levels of physical activity, greater cognitive flexibility, improved coping techniques, and reduced cognitive fusion, and group 2, which exhibits opposite characteristics. The discrepancies observed in psychological characteristics such as coping strategies, cognitive fusion, and cognitive inflexibility highlight their potential impact on the general health of rugby players. To comprehend the complex interplay between psychological and physical elements in rugby athletes, long-term studies with larger samples are crucial.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030291
Authors: Laura Budurlean Diwakar Bastihalli Tukaramrao Lijun Zhang Sinisa Dovat James Broach
Structural variants drive tumorigenesis by disrupting normal gene function through insertions, inversions, translocations, and copy number changes, including deletions and duplications. Detecting structural variants is crucial for revealing their roles in tumor development, clinical outcomes, and personalized therapy. Presently, most studies rely on short-read data from next-generation sequencing that aligns back to a reference genome to determine if and, if so, where a structural variant occurs. However, structural variant discovery by short-read sequencing is challenging, primarily because of the difficulty in mapping regions of repetitive sequences. Optical genome mapping (OGM) is a recent technology used for imaging and assembling long DNA strands to detect structural variations. To capture the structural variant landscape more thoroughly in the human genome, we developed an integrated pipeline that combines Bionano OGM and Illumina whole-genome sequencing and applied it to samples from 29 pediatric B-ALL patients. The addition of OGM allowed us to identify 511 deletions, 506 insertions, 93 duplications/gains, and 145 translocations that were otherwise missed in the short-read data. Moreover, we identified several novel gene fusions, the expression of which was confirmed by RNA sequencing. Our results highlight the benefit of integrating OGM and short-read detection methods to obtain a comprehensive analysis of genetic variation that can aid in clinical diagnosis, provide new therapeutic targets, and improve personalized medicine in cancers driven by structural variation.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030290
Authors: Irina Ioana Iordănescu Andreea Catana Zina Barabas Cuzmici Iuliana Chelu Cristina Dragomir Maria Militaru Emilia Severin Mariela Sanda Militaru
We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of diagnosis, especially prenatal and clinical management. Clinically, MMSs encompass a broad spectrum of manifestations, ranging from intellectual disability and developmental delays to congenital anomalies, facial dysmorphisms, and neurobehavioral abnormalities. Notable examples include well-characterized syndromes such as DiGeorge syndrome (22q11.2 deletion), Prader–Willi syndrome (15q11–q13 deletion), and Williams syndrome (7q11 deletion). Our study focuses on the genetic foundations and prenatal ultrasound findings of these syndromes, with an emphasis on cases associated with intellectual disability. Using SNP array technology, we delve into the evolving landscape of diagnostic methods, providing a nuanced understanding of copy number variations (CNVs) and their implications. Prenatal diagnosis allows for the early detection of MMSs, enabling parents and healthcare providers to make informed decisions about the pregnancy and plan for appropriate medical care and interventions. Beyond theoretical considerations, our article bridges the gap between research and practical application by offering insights derived from clinical cases. Through the presentation of specific cases, we aim to contribute valuable data to the broader discourse on MMSs, fostering knowledge exchange and enhancing the medical community’s awareness of these complex genetic conditions.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030289
Authors: Dominika Blachut Brygida Przywara-Chowaniec Michalina Mazurkiewicz Andrzej Tomasik
Patients with systemic lupus erythematosus (SLE) are 2–10 times more likely to develop cardiovascular disease (CVD) than the general population. The assessment of the risk of developing CVD is an important direction for further clinical management. The study was conducted retrospectively and included patients with SLE. The aim of the study was to assess the measurements of pulse wave velocity (PWV), carotid intima-media thickness (CIMT), ankle–brachial index (ABI) and biochemical parameters. Subclinical atherosclerosis was also assessed. The study included 98 patients with SLE with an age- and sex-matched control group of 68 healthy adults. Statistical significance was found in the SLE group and the controls for N-terminal fragment of pro-B-type natriuretic peptide (NT proBNP) (144.87 vs. 36.41 pg/mL, p = 0.0018), high-sensitivity cardiac troponin (hs-cTn) (25.43 vs. 6.38 ng/L, p = 0.0303) and D-Dimer levels (0.73 vs. 0.36 µg/mL, p = 0.0088), left CIMT (1.03 vs. 0.62 mm, p < 0.0001), right CIMT (0.93 vs. 0.63 mm, p < 0.0001) and PWV CF (9.74 vs. 7.98 m/s, p = 0.0294). A positive correlation was found between NT proBNP and PWV CF (r = 0.6880, p = 0.0498) and hs-cTn and PVW carotid-femoral (CF) (r = 0.8862, p = 0.0499) in SLE. A positive correlation was reported between PWV CF and systolic blood pressure (r = 0.5025, p = 0.0487). The measurement of carotid–femoral PWV is a simple, non-invasive, and reproducible method and may independently predict future CVD events and their cause. Further studies are warranted to establish the prognostic value of PWV in patients with SLE, as it may be superior to CIMT measurements in the early stages of vascular disorders.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030288
Authors: Lavinia Nicoleta Brezeanu Cosmina Elena Jercălău Catalina Liliana Andrei Octavian Ceban Gabriela Droc
Liver transplantation is the treatment of choice for end-stage liver disease and despite accumulated experience over the years, improved surgical techniques, better immunosuppression and adequate intensive care management, it still represents the greatest challenge for anesthesiologists. The aim of the study was the characterization of the hemodynamic profile of patients with liver cirrhosis undergoing liver transplantation with the help of the PiCCO system during the three surgical stages, the impact of bleeding on hemodynamic status and correlation between the amount of bleeding, lactate levels, severity scores and survival rate and complications. Another focus of this study was the amount of transfused blood products and their impact on postoperative complications. Our study included 70 patients who underwent liver transplantation in our center and were hemodynamically monitored with the PiCCO system. Data were processed using the Python 3.9 programming language. Results: The mean MELD severity score was 18 points. During surgery, significant variations in the hemodynamic parameters occurred. All patients had a decrease in cardiac output in the anhepatic phase, with 50% presenting a decrease of more than 40%. In total, 78% of patients showed a decrease in the global ejection fraction, with a median value of 30%.Overall, 75% of patients had a total blood loss of less than 6000 mL and 31 patients developed immediate postoperative complications with a 50% probability with blood loss exceeding 6500 mL. Seven patients (10%) did not survive after 30 days. An amount of 5 mmol/L of serum neohepatic lactate determines a 50% probability of complications. Conclusions: Surgical technique causes an important decrease in cardiac output. Intraoperative bleeding has a major impact on outcome and the first month represents a critical period after liver transplantation. Statistical tests describe the probability of 30/90-day survival and the occurrence of complications according to variables such as intraoperative bleeding and MELD severity score. Intraoperative transfusion correlates with the occurrence of postoperative complications.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030287
Authors: William Tapper Gustavo Carneiro Christos Mikropoulos Spencer A. Thomas Philip M. Evans Stergios Boussios
Molecular imaging is a key tool in the diagnosis and treatment of prostate cancer (PCa). Magnetic Resonance (MR) plays a major role in this respect with nuclear medicine imaging, particularly, Prostate-Specific Membrane Antigen-based, (PSMA-based) positron emission tomography with computed tomography (PET/CT) also playing a major role of rapidly increasing importance. Another key technology finding growing application across medicine and specifically in molecular imaging is the use of machine learning (ML) and artificial intelligence (AI). Several authoritative reviews are available of the role of MR-based molecular imaging with a sparsity of reviews of the role of PET/CT. This review will focus on the use of AI for molecular imaging for PCa. It will aim to achieve two goals: firstly, to give the reader an introduction to the AI technologies available, and secondly, to provide an overview of AI applied to PET/CT in PCa. The clinical applications include diagnosis, staging, target volume definition for treatment planning, outcome prediction and outcome monitoring. ML and AL techniques discussed include radiomics, convolutional neural networks (CNN), generative adversarial networks (GAN) and training methods: supervised, unsupervised and semi-supervised learning.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030286
Authors: Sławomir Mika Wojciech Gola Monika Gil-Mika Mateusz Wilk Hanna Misiolłek
The diagnostic process in Intensive Care Units has been revolutionized by ultrasonography and accelerated by artificial intelligence. Patients in critical condition are often sonoanatomically challenging, with time constraints being an additional stress factor. In this paper, we describe the technology behind the development of AI systems to support diagnostic ultrasound in intensive care units. Among the AI-based solutions, the focus was placed on systems supporting cardiac ultrasound, such as Smart-VTI, Auto-VTI, SmartEcho Vue, AutoEF, Us2.ai, and Real Time EF. Solutions to assist hemodynamic assessment based on the evaluation of the inferior vena cava, such as Smart-IVC or Auto-IVC, as well as to facilitate ultrasound assessment of the lungs, such as Smart B-line or Auto B-line, and to help in the estimation of gastric contents, such as Auto Gastric Antrum, were also discussed. All these solutions provide doctors with support by making it easier to obtain appropriate diagnostically correct ultrasound images by automatically performing time-consuming measurements and enabling real-time analysis of the obtained data. Artificial intelligence will most likely be used in the future to create advanced systems facilitating the diagnostic and therapeutic process in intensive care units.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030285
Authors: Adriana Ceci Petros Kountouris Antonella Didio Fedele Bonifazi
Personalized medicine is defined as a medical model using the characterization of individuals’ phenotypes and genotypes (e [...]
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030284
Authors: Antoanela Curici Mihaela Roxana Popescu Viviana Adriana Pîrvuleț Gabriela-Irina Marinescu Ana Corina Ionescu
Recent epidemiologic studies carried out in Romania confirmed an ascending trend for cardiovascular disease (CVD) risk factor prevalence such as diabetes mellitus (DM), obesity and dyslipidemia. The aim of this study is to describe the CVD risk factor profile and preventative behavior in a representative sample of the general adult population of an Eastern Romanian urban area. More than 70% of the studied population had a body mass index (BMI) above the normal range for their age, with 36.7% of the subjects residing in obesity and severe obesity clusters. For overweight and obese subjects, the number of comorbidities (CVD, arterial hypertension and DM type 2) was higher than in the population with normal weight (44% vs. 31%, 22% vs. 14% and 18% vs. 10%, respectively). The prevalence of high blood pressure was almost double that reported in previous Romanian studies (69.3% vs. 36.6%) and higher than expected, based on self-reported known CVD diagnoses (37.5%). There was a visible difference between the results obtained for quantifiable CVD risk factors and self-reported lifestyle ones. Routine blood test monitoring may be an easy and inexpensive tool to guide educational and medical interventions to address modifiable CV risk factors in the adult population in order to prevent the fatal consequences of cardiovascular disease.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030283
Authors: Simona Andreea Rujan Serban Vifor Gabriel Bertesteanu Raluca Grigore Bogdan Popescu Mihnea Condeescu-Cojocarita Nicolaescu Alexandru Gloria Simona Bertesteanu Teodora Elena Schipor-Diaconu Anca Ionela Cirstea Mihai Dumitru Tudosie Irina-Doinita Popescu Bianca Petra Taher
Introduction: Oropharyngeal cancer requires a comprehensive evaluation of treatment options, including surgery, radiation therapy, and chemotherapy. It is crucial to customize these treatments based on the stage of the tumor and the overall health of the patient, enabling personalized or combined approaches. Transoral surgical techniques have regained popularity due to the advancements and limitations of non-surgical strategies. The potential influence of surgical procedures on patients’ quality of life highlights the need for careful intervention selection; among them, the transoral approach has proven to be especially beneficial for early-stage oropharyngeal neoplasms. Methods: To explore potential treatments for early-stage oropharyngeal malignancies, this study carefully reviews the literature, using information from papers, current research, and global databases. The review protocol commenced on November 2023. A comprehensive search of the PUBMED database was undertaken, employing pertinent terms associated with oropharyngeal, transoral surgery or radiotherapy, robotic surgery, and chemotherapy. Results: Treating early-stage oropharyngeal neoplasms is particularly intriguing due to the multitude of variables influencing treatment decisions, leading to ongoing debates in specialized literature. Regardless of the chosen approach, maintaining a high quality of life is crucial. To assess this, standardized questionnaires from the European Organization for Research and Treatment of Cancer were employed, revealing superior outcomes for patients solely undergoing surgical intervention. Additionally, in the realm of specialized literature, cases of HPV-positive oropharyngeal neoplasms are recognized for their heightened radiosensitivity and more favorable long-term prognosis. Conclusions: Surgical intervention and radiotherapy are the main treatment options for oropharyngeal cancer, and they can be used separately or together for maximum effectiveness. Amid ongoing discussions, determining the superior effectiveness between the two options continues to be a matter of debate. This study provides a comprehensive analysis, offering valuable perspectives for future discussions. Neoplasm in the oropharynx can be effectively treated using transoral microsurgery.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030282
Authors: Pankaj Khatiwada Bian Yang Jia-Chun Lin Bernd Blobel
The evolution of Patient-Generated Health Data (PGHD) represents a major shift in healthcare, fueled by technological progress. The advent of PGHD, with technologies such as wearable devices and home monitoring systems, extends data collection beyond clinical environments, enabling continuous monitoring and patient engagement in their health management. Despite the growing prevalence of PGHD, there is a lack of clear understanding among stakeholders about its meaning, along with concerns about data security, privacy, and accuracy. This article aims to thoroughly review and clarify PGHD by examining its origins, types, technological foundations, and the challenges it faces, especially in terms of privacy and security regulations. The review emphasizes the role of PGHD in transforming healthcare through patient-centric approaches, their understanding, and personalized care, while also exploring emerging technologies and addressing data privacy and security issues, offering a comprehensive perspective on the current state and future directions of PGHD. The methodology employed for this review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and Rayyan, AI-Powered Tool for Systematic Literature Reviews. This approach ensures a systematic and comprehensive coverage of the available literature on PGHD, focusing on the various aspects outlined in the objective. The review encompassed 36 peer-reviewed articles from various esteemed publishers and databases, reflecting a diverse range of methodologies, including interviews, regular articles, review articles, and empirical studies to address three RQs exploratory, impact assessment, and solution-oriented questions related to PGHD. Additionally, to address the future-oriented fourth RQ for PGHD not covered in the above review, we have incorporated existing domain knowledge articles. This inclusion aims to provide answers encompassing both basic and advanced security measures for PGHD, thereby enhancing the depth and scope of our analysis.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030281
Authors: Femmy Nurul Akbar Safira Rosiana Choirida Ahmad Zaqi Muttaqin Fika Ekayanti Hoirun Nisa Hari Hendarto
Healthcare visits were reduced during the COVID-19 pandemic, causing disturbances in sustainable MAFLD monitoring. Telemedicine acts to maintain connectivity between patients and healthcare professionals. This review aimed to assess the role of telemedicine in monitoring MAFLD during the pandemic. Databases searched included l PubMed Central and ScienceDirect from 2020 to 2023. Assessment with The Cochrane Risk of Bias for randomized controlled trials (RCTs) and the Newcastle-Ottawa scale for non-RCTs systematic reviews. Meta-analyses employing a random-effect model were performed to determine the pooled mean difference (MD) and p-value. The results showed three RCT and two non-RCT (n = 239) with 56.9% males and a mean age of 51.3 years. The median intervention duration was 5.5 months. The parameters assessed included body weight (BW), body mass index (BMI), waist circumference, liver function (AST/ALT), lipid profile, HbA1c, and others. Meta-analysis revealed that telemedicine had a significant effect on improving outcomes for BW (MD −2.81: 95% CI, −4.11, −1.51, p < 0.0001) and BMI (MD −1.01: 95% CI, −1.47, −0.55, p < 0.0001) compared to standard care, while the AST/ALT levels were not significantly reduced. Some biochemical markers decreased based on the systematic reviews. In conclusion, telemedicine using mobile-based applications could be an option for monitoring lifestyle modification in MAFLD patients facing the COVID-19 pandemic.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030280
Authors: Cheol-Won Jang Tae Yang Yu Jin Woo Jeong Se Eun Ha Rajan Singh Moon Young Lee Seungil Ro
Glucagon-like peptide-1 (GLP-1) is an incretin hormone known for its pivotal role in enhancing insulin secretion and reducing glucagon release from the pancreas. Diabetic nephropathy, which is characterized by albuminuria, represents a significant microvascular complication of diabetes. Most of the previous studies mainly focused on the therapeutic renal protective effect in clinical trials after the administration of GLP-1 receptor agonists (GLP-1 RAs), rather than before administration. Hence, this study aimed to investigate the association between fasting plasma GLP-1 levels and albuminuria before GLP-1 RA administration. A cross-sectional study was designed to evaluate the association between fasting plasma GLP-1 levels and albuminuria in patients with type 2 diabetes mellitus (T2DM). A cohort of 68 participants with T2DM was analyzed using data collected at Wonkwang University Hospital in Iksan, Korea. Logistic regression analysis was employed to determine the odds ratio (OR) and 95% confidence interval (CI) of the incidence of albuminuria between two groups categorized by fasting GLP-1 levels, low (Group L) and high GLP-1 (Group H). The OR (95% CI) for the incidence of albuminuria comparing Group L with Group H of fasting plasma GLP-1 levels was 3.41 (1.16–10.02), p = 0.03 after adjustment for relevant variables including age, gender, fasting plasma glucose, HbA1c, C-peptide, creatinine, and medication use [angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs), sodium-glucose cotransporter-2 (SGLT-2) inhibitors, and dipeptidyl peptidase-4 (DPP-4) inhibitors]. When analyzed as a continuous variable, each 1 pmol/L reduction in fasting plasma GLP-1 levels was associated with an OR (95% CI) of 1.67 (1.17–1.87), p = 0.02, following full adjustment. These results highlight a negative association between fasting plasma GLP-1 levels and the incidence of albuminuria in Korean patients with T2DM, before GLP-1 RA administration. These findings suggest that endogenous GLP-1 may have a beneficial impact in mitigating albuminuria.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030279
Authors: Anke Leichtle Stephanie Jeschke Kirstin Plötze-Martin Christian Idel Karl-Ludwig Bruchhage Ralph Pries
Background: Peripheral blood monocytes can be subdivided into different subsets based on the CD14/CD16 surface characteristics. Monocytes are a major source of cytokine secretion of pro-inflammatory immune responses, whereas CD16+ monocyte subsets can also contribute to persistent inflammation in the context of chronic diseases. However, the regulation and cellular characteristics of circulating monocyte subsets in patients with chronic otitis media (COM), one of the largest public health burdens, remains largely unknown. Materials and Methods: In this study, we analyzed individual distributions of circulating monocyte subsets and associated protein expression levels of adhesion protein and chemokine receptors CD11a (integrin-α L; LFA-1), CD11b (integrin-α M; Mac-1), and CD11c (integrin-α X), CX3CR1 (CX3CL1 receptor), as well as checkpoint molecule PD-L1 (programmed cell death ligand-1), in a gender-balanced cohort of 14 patients with chronic otitis media using flow cytometry, especially in view of the therapeutic impact of the natural plant-derived monoterpene oxide 1,8-Cineol. Furthermore, using the human monocyte cell line THP-1 as a model, we investigated the influence of anti-inflammatory 1,8-Cineol on monocytic cytokine secretion patterns using human cytokine arrays and ELISA measurements. Results: The data revealed significantly elevated expression levels of all analyzed adhesion molecules in certain monocyte subsets in COM patients; CX3CR1 was especially significantly down-regulated in response to 1,8-Cineol administration. Moreover, the data revealed significantly increased monocytic PD-L1 expression levels in circulating classical and intermediate monocyte subsets from COM patients compared to healthy donors, but also a significant decrease in PD-L1 in intermediate monocytes upon 1,8-Cineol therapy compared to the pre-treatment situation. Furthermore, the increased secretion of cytokine CXCL10 by THP-1 monocytes in response to LPS was found to be strongly attenuated by 1,8-Cineol. Plasma levels of CXCL10 were also significantly increased in COM patients, but no significant differences between the pre and post 1,8-Cineol situation were observed. Conclusions: The present study revealed new insights into the bioactive anti-inflammatory effects of 1,8-Cineol in terms of monocyte adhesion and immune regulation. Our data suggest the potential role of cytokine CXCL10 in COM development and maintenance, which is also involved in the activity of its concomitant disease, rheumatoid arthritis.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030278
Authors: Damir Vucinic Iva Skocilic Marin Golcic Renata Dobrila-Dintinjana Maja Kolak Ivona Jerkovic Eleonora Cini Tesar Ani Mihaljevic Ferari Arnela Redjovic Jasna Marusic Doris Kolovrat Ivana Mikolasevic
Background: The development of immunotherapy checkpoint inhibitors (ICIs) has revolutionized cancer care. However, old patients are underrepresented in most clinical trials, although they represent a significant proportion of real-world patients. We aimed to evaluate the effectiveness and safety of ICIs in patients older than the age of 70. Methods: We performed a retrospective chart review of 145 patients aged 70 or older treated with ICIs for metastatic or unresectable cancer. Results: Median progression-free survival (PFS) was 10.4 months (95% CI 8.6–13.7), with no differences between octogenarians and septuagenarians (p = 0.41). Female gender (p = 0.04) and first-line treatment setting (p < 0.0001) were associated with a longer median PFS. Median overall survival (OS) was 20.7 months (95% CI 13.5–35.0 months), with no difference based on performance status, cancer site, gender, or between septuagenarians and octogenarians (all p > 0.005). Patients treated with ICIs in the first-line setting reported longer OS compared to treatment in the second-line setting (p < 0.001). Discontinuation of ICIs due to adverse effects was associated with both shorter PFS (p = 0.0005) and OS (p < 0.0001). Conclusion: The effectiveness of ICIs in older cancer patients primarily depends on the line of treatment and treatment discontinuation. Octogenarians experienced similar treatment responses, PFS, OS, and adverse effects compared to septuagenarians.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030277
Authors: Ben Allen
This review synthesizes the literature on explaining machine-learning models for digital health data in precision medicine. As healthcare increasingly tailors treatments to individual characteristics, the integration of artificial intelligence with digital health data becomes crucial. Leveraging a topic-modeling approach, this paper distills the key themes of 27 journal articles. We included peer-reviewed journal articles written in English, with no time constraints on the search. A Google Scholar search, conducted up to 19 September 2023, yielded 27 journal articles. Through a topic-modeling approach, the identified topics encompassed optimizing patient healthcare through data-driven medicine, predictive modeling with data and algorithms, predicting diseases with deep learning of biomedical data, and machine learning in medicine. This review delves into specific applications of explainable artificial intelligence, emphasizing its role in fostering transparency, accountability, and trust within the healthcare domain. Our review highlights the necessity for further development and validation of explanation methods to advance precision healthcare delivery.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030276
Authors: Myeongjong Lee Cheol Lee Guen Joo Choi Hyun Kang
This systematic review and meta-analysis with trial sequential analysis (TSA) aimed to evaluate the efficacy and safety of remimazolam compared to other sedatives for procedural sedation in older patients. We registered the protocol of this systematic review and meta-analysis with TSA in the PROSPERO network (CRD42023441209). Two investigators performed a systematic, comprehensive, and independent search of the PubMed, EMBASE, and Cochrane Central Register of Controlled Trials databases to identify randomized controlled trials (RCTs) comparing remimazolam with other sedatives in older patients undergoing procedural sedation. Conventional meta-analysis and TSA were also performed. Seven RCTs (1502 patients) were included. Pooled results demonstrated that remimazolam was associated with a low incidence of hypoxemia, hypotension, bradycardia, respiratory depression, and injection pain. Remimazolam also required a long time to cause loss of consciousness. There were no differences in rates of sedation success, dizziness/headache, postoperative nausea and vomiting, or recovery time. Older patients receiving procedural sedation with remimazolam had a lower risk of hypoxemia, hypotension, bradycardia, respiratory depression, and injection pain than those receiving other sedatives, suggesting that remimazolam may be more suitable for procedural sedation in older patients.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030275
Authors: Jacqueline Khalil Hannah Hill David Kaelber Gengqing Song
Female sex hormones have been hypothesized to influence the higher prevalence of gastroparesis in females. This study investigated the effects of hormone replacement therapy (HRT) on gastroparesis and its related symptoms, medication use, and diagnostic testing in post-menopausal women. Utilizing the TriNetX platform, we conducted a population-based cohort study involving post-menopausal women aged 50 or older, with and without HRT. One-to-one propensity score matching was performed to adjust for age, race, ethnicity, diabetes, body mass index (BMI), and hemoglobin A1c. The exclusion criteria included functional dyspepsia, cyclic vomiting syndrome, and surgical procedures. After applying the exclusion criteria, we identified 78,192 post-menopausal women prescribed HRT and 1,604,822 not prescribed HRT. Post-propensity matching, each cohort comprised 67,874 patients. A total of 210 of the post-menopausal women prescribed HRT developed an ICD encounter diagnosis of gastroparesis at least 30 days after being prescribed HRT compared to post-menopausal women not prescribed HRT (OR = 1.23, 95% CI [1.01–1.51] p-value = 0.0395). These associations persisted in sensitivity analysis over 5 years (OR = 1.65, 95% CI [1.13–2.41] p-value = 0.0086). HRT was associated with increased GI symptoms, including early satiety (OR = 1.22, 95% CI [1.03–1.45] p-value = 0.0187), domperidone use (OR = 2.40, 95% CI [1.14–5.02] p-value = 0.0163), and undergoing gastric emptying studies (OR = 1.67, 95% CI [1.39–2.01] p-value < 0.0001). HRT is linked to an increased risk of developing an ICD encounter diagnosis of gastroparesis.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030274
Authors: Jihyun Keum Yong Jin Kim Sae Kyung Choi Won Moo Lee Jaeman Bae
Background: Polycystic ovarian syndrome (PCOS) can be diagnosed when the anti-Müllerian hormone (AMH) levels are high, but in clinic, women who do not meet the diagnosis of PCOS but have elevated AMH levels are often seen. This study aimed to compare the differences in menstrual cycle patterns and hormone levels in women with regular menstrual cycles, but not PCOS, by dividing them into high and low AMH groups. Material and Methods: This multicenter prospective study included 68 healthy women. Participants with regular menstrual cycles were divided into two groups according to their AMH levels. The main outcome measures were menstrual cycle pattern, body mass index, and hormone levels (thyroid stimulating hormone, prolactin, testosterone, sex hormone-binding globulin, and free androgen index), which were compared between the groups according to AMH levels. The ovulation was assessed by performing pelvic ultrasound, and by assessing the hormone levels of the luteinizing hormone and progesterone. Results: The criteria for determining normal and high AMH levels were based on previous literatures. The participants were divided into normal (39 people) and high (29 people) AMH group. No differences were found in age or BMI between the two groups, and no other differences were observed in TSH, prolactin, testosterone, or free androgen index. However, the high AMH group had significantly higher SHBG levels than the normal group (normal group: 65.46 ± 25.78 nmol/L; high group: 87.08 ± 45.05 nmol/L) (p = 0.025). Conclusions: This study is the first to analyze the association between SHBG and AMH levels in women with regular menstrual cycles. Elevated AMH levels are associated with increased levels of SHBG levels.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030272
Authors: Pablo Hernandez-Lucas Raquel Leirós-Rodríguez Juan Lopez-Barreiro José L. García-Soidán
Background: Non-specific back pain is a global concern. Exercise and health education are crucial components in its management. The Back School is a theoretical practical program that integrates both elements. The objective of this study is to determine if Back School-based programs are effective in reducing pain, disability, and kinesiophobia in patients with non-specific back pain. Methods: A systematic review of research involving participants with non-specific back pain was carried out on databases such as PubMed, Scopus, Web of Science, and Medline. Results: In total, 25 papers were chosen for review. All of these papers focused on the effects on the lumbar area, with the exception of one paper that specifically targeted the cervical region. The pain variable showed statistically significant results with standardized mean differences of −1.01 (950 confidence interval = −1.39 to −0.63; p < 0.001), and the disability variable had standardized mean differences of −0.98 (95% confidence interval = −1.38 to −0.58; p < 0.001), and only one study analysed the kinesiophobia variable and concluded that Back School programs have a positive effect on kinesiophobia between the baseline and post-intervention levels. Conclusions: Back School programs have shown effectiveness in reducing non-specific back pain and lowering disability rates.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030273
Authors: Hussein Alhawari Yazun Jarrar Malek Zihlif Ayman Wahbeh Sameeha Alshelleh Ruba Alhabahbeh Dalia Abdelrazaq
Background: Hypertension, characterized by elevated pressure, poses a significant health risk. Recent studies in Jordan highlight high hypertension rates, emphasizing the need for genetic investigations to comprehend essential hypertension determinants. The AGT gene, part of the Renin Angiotensin System, is linked to blood pressure regulation. Limited information exists on the frequency of this polymorphism among Jordanian hypertensive patients. Aims: This study explores the association between the AGT M235T polymorphism and essential hypertension in Jordan. Methods: A cross-sectional study with 435 participants (199 hypertensive, 236 non-hypertensive) was conducted at the University of Jordan Hospital. Blood pressure was measured, and genetic analysis of the AGT M235T polymorphism was completed using the PCR-RFLP technique. Chi-square and t-tests were used for comparisons using SPSS software. Results: Hypertensive patients exhibited significantly higher weight, BMI, and blood pressure. Genotyping results showed no significant difference (p > 0.05, Chi-square) in AGT M235T polymorphism distribution between control and patient groups. In addition, allele frequencies showed comparable patterns (p > 0.05, Chi-square). All genotype frequencies showed no deviation from the Hardy–Weinberg equation (p > 0.05, Chi-square). Conclusions: The AGT M235T genetic polymorphism is not more prevalent among hypertensive patients in Jordan, although the average weight and BMI among hypertensive patients is higher than the non-hypertensive participants. Obesity can be addressed as a potential risk factor for essential hypertension in Jordan. In addition, it is recommended to find out the influence of the AGT M235T genetic polymorphism on the response of antihypertensive drugs among hypertensive patients in Jordan.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030271
Authors: Scott Kaniper Dorret Lynch Samuel M. Owens Larisa Ibric Yuliya Vabishchevich Nana Nyantakyi Fan Chun Lionel Sam Carly Fabrizio Eman Hamad Glenn S. Gerhard
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive systemic disease involving the extracellular deposition of misfolded transthyretin protein. The hereditary subtype is caused by mutations in the transthyretin (TTR) gene. An estimated 2–3% of individuals of African American (AA) ancestry carry the p.Val142Ile (V142I, also referred to as V122I) TTR pathogenic variant. The non-specific clinical nature of ATTR-CM makes it challenging to diagnose clinically, and the high allele frequency of TTR V142I suggests that many patients with hereditary ATTR-CM may not have been tested. An analysis of electronic health record data from over 13,000 AA patients with a diagnostic code for heart disease or arrhythmia who also had additional amyloid-related findings were not diagnosed with amyloidosis at higher rates than those with heart failure or arrhythmia who did not have additional amyloid-related clinical diagnoses. Similarly, after genotyping 666 AA patients with heart failure or arrhythmia, TTR V142I carriers appeared to be clinically indistinguishable based on amyloid-related non-cardiac diagnoses from those who did not carry the allele. No additional TTR gene sequence variants were found in the TTR wildtype V142V patients with heart failure or arrhythmia who had additional amyloid-related diagnoses. Genetic testing for ATTR-CM may be important for timely diagnosis.
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Authors: Larisa Ungureanu Laura Irincu Stefania Diaconu Bianca Oprițoiu K. Ray Chaudhuri Cristian Falup-Pecurariu
Introduction: Although the reported frequency of diplopia is between 10 to 40% of patients with Parkinson’s disease (PD) and other movement disorders, it remains one of the most undiagnosed non-motor symptoms. Furthermore, it has a major impact on the quality of life of these patients. The aim of this study is to systematically review the literature regarding the frequency, causes, and implications of diplopia in movement disorders. Methodology: An electronic search was conducted in March and June 2023 using the PubMed database in order to identify appropriate studies. Studies that were written in English, that represented observational, analytical studies, and case reports, and that provided information regarding diplopia in movement disorders were included in the systematic review. Results: A total of 686 articles were identified out of which 43 met the inclusion criteria. The studies included in the systematic review ranged from descriptive studies (case reports and case series) to analytical–observational studies (cross-sectional studies, prospective and retrospective cohort studies, and case–control studies). In Parkinson’s disease, the incidence of diplopia ranged from 10 to 38%. In these patients, diplopia was linked to the presence of visual hallucinations and cognitive decline but also to convergence insufficiency and the presence of motor fluctuations. Cases of diplopia secondary to deep brain stimulation were also reported. Diplopia was associated with longer disease duration and worse motor and non-motor scores. Diplopia was also reported in other movement disorders such as multiple system atrophy (frequency as high as 18%) and progressive supranuclear palsy (frequency as high as 39%) and was associated with increased mortality and shorter duration in life span. Conclusions: Diplopia occurs in up to 38% of patients with movement disorders and has a negative impact on their health-related quality of life. Treating physicians should actively ask about diplopia and other ophthalmological symptoms, as many patients do not spontaneously report them. The pathophysiology of diplopia is complex, and it involves heterogeneous peripheral and central mechanisms. The management of these patients should involve a multidisciplinary team of health professionals in order to provide appropriate, tailored management.
]]>Journal of Personalized Medicine doi: 10.3390/jpm14030269
Authors: Iva Kostadinova Mila Lyubomirova Boris Bogov Ekaterina Kurteva Dobroslav Kyurkchiev Todor Todorov
IgA nephropathy (IgAN) is the most common glomerulonephritis worldwide and a leading cause of chronic kidney disease and renal failure. However, the Bulgarian population has limited epidemiological data and biomarkers for IgAN. In this retrospective monocentric analysis, we investigated all the patients with biopsy-proven IgAN over 10 years in a tertiary Bulgarian institution. From the analysis of 762 kidney biopsies, the diagnosis of primary IgAN was established in 125, with an average age of 35.94 ± 11.91 years. Our study aimed to assess the clinical characteristics, histological features, and potential biomarkers of IgAN in the Bulgarian population. We evaluated parameters such as proteinuria, hematuria, serum creatinine, and glomerular filtration rate (GFR). In fifty IgAN patients and 30 healthy controls, serum levels of Gd-IgA1, IgA, C3, BAFF, and APRIL using ELISA were examined. The results revealed significant differences in serum concentrations of Gd-IgA1 (p < 0.001), Gd-IgA1/IgA (p = 0.022), IgA (p = 0.014), and IgA/C3 (p = 0.047) between patients and controls. However, no correlation was found between Gd-IgA1, IgA, Gd-IgA1/IgA, and IgA/C3 and chronic kidney disease progression. Our study reports evidence of the diagnostic value of Gd-IgA1 and contributes to the understanding of IgAN in the Bulgarian population and suggests potential biomarkers for disease diagnosis and prognosis.
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