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J. Pers. Med., Volume 13, Issue 1 (January 2023) – 160 articles

Cover Story (view full-size image): A total of 71 patients with measurable lesions were included, among which 46 patients had enough tissue for next-generation sequencing. The overall objective response rate (ORR) was 46.4%. ORR was significantly higher in mismatch repair (MMR)-deficient (dMMR) patients than in MMR-proficient (pMMR) patients, in patients with lymph node metastasis only than those with other metastasis sites, and in patients with an Eastern Cooperative Oncology Group performance status of 0 than with a PS of 1 or 2. The progression-free survival was significantly longer in patients with dMMR, lymph node metastasis only, PD-L1 combined positive score (CPS) ≥ 5, and CDH1 wild type. Several clinicopathological and molecular features are associated with anti-PD-1 treatment efficacy in Signet ring cell carcinoma (SRCC), which might be used to identify patients who can benefit most from these therapies. View this paper
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7 pages, 223 KiB  
Article
Blood Loss Following Open Posterior Spinal Fusion in Fractures: Cannulated vs. Solid Pedicle Screws
by Pedram Rajabifard, John Edward Cunningham, Michael A. Johnson, Henrik Constantin Bäcker and Peter Turner
J. Pers. Med. 2023, 13(1), 160; https://doi.org/10.3390/jpm13010160 - 16 Jan 2023
Viewed by 1642
Abstract
We aim to delineate whether there is increased blood loss with the use of cannulated pedicle screws compared to solid pedicle screws in patients undergoing posterior spinal fusion. A single-centre retrospective case-control study was undertaken on patients undergoing PSF for spinal fractures. Cannulated [...] Read more.
We aim to delineate whether there is increased blood loss with the use of cannulated pedicle screws compared to solid pedicle screws in patients undergoing posterior spinal fusion. A single-centre retrospective case-control study was undertaken on patients undergoing PSF for spinal fractures. Cannulated screw fixation was compared with solid screw fixation. Intraoperative blood loss was estimated using pre and postoperative haemoglobin levels, recorded estimated blood loss and cell saver reports. Anticoagulation, blood product administration, operative time and number of levels fused were assessed. A total of 64 cases, 32 in each cohort, were included in the analysis. Overall mean haemoglobin reduction from pre- to post-operative was 2.82 ± 1.85 g/L per screw inserted in the cannulated group, compared to a haemoglobin decrease of 2.81 ± 1.521 g/L per screw inserted in the solid screw group (p = 0.971). Total estimated intraoperative blood loss was 616.3 + 355.4 mL in the cannulated group, compared to 713.6 + 473.5 mL in the solid screw group (p = 0.456). Patients with preoperative thrombocytopenia had a transfusion rate of 0.5 ± 0.71 units/patient compared to 0.04 ± 0.19 units/patient in patients with normal platelet levels (p < 0.005). The differences in blood loss observed between cannulated and solid pedicle screws are non-significant overall. The largest predictor for need of transfusion was pre-operative thrombocytopenia, regardless of the type of screw used. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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9 pages, 630 KiB  
Commentary
Sugammadex in Emergency Situations
by Cyrus Motamed
J. Pers. Med. 2023, 13(1), 159; https://doi.org/10.3390/jpm13010159 - 15 Jan 2023
Cited by 1 | Viewed by 3156
Abstract
Sugammadex may be required or used in multiple emergency situations. Moderate and high doses of this compound can be used inside and outside the operating room setting. In this communication, recent developments in the use of sugammadex for the immediate reversal of rocuronium-induced [...] Read more.
Sugammadex may be required or used in multiple emergency situations. Moderate and high doses of this compound can be used inside and outside the operating room setting. In this communication, recent developments in the use of sugammadex for the immediate reversal of rocuronium-induced neuromuscular blockade were assessed. In emergency surgery and other clinical situations necessitating rapid sequence intubation, the tendency to use rocuronium followed by sugammadex instead of succinylcholine has been increasing. In other emergency situations such as anaphylactic shock caused by rocuronium or if intubation or ventilation is not possible, priority should be given to resuming ventilation maintaining hemodynamic stability, in accordance with the traditional guidelines. If necessary for the purpose of resuming ventilation, reversal of neuromuscular blockade should be done in a timely fashion. Full article
(This article belongs to the Special Issue New Paradigms in Anesthesia and Intensive Care)
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21 pages, 706 KiB  
Review
Direct Oral Anticoagulants for Stroke and Systemic Embolism Prevention in Patients with Left Ventricular Thrombus
by Minerva Codruta Badescu, Victorita Sorodoc, Catalina Lionte, Anca Ouatu, Raluca Ecaterina Haliga, Alexandru Dan Costache, Oana Nicoleta Buliga-Finis, Ioan Simon, Laurentiu Sorodoc, Irina-Iuliana Costache and Ciprian Rezus
J. Pers. Med. 2023, 13(1), 158; https://doi.org/10.3390/jpm13010158 - 14 Jan 2023
Viewed by 2866
Abstract
In recent years, direct oral anticoagulants (DOAC) have accumulated evidence of efficacy and safety in various clinical scenarios and are approved for a wide spectrum of indications. Still, they are currently used off-label for left ventricular thrombus owing to a paucity of evidence. [...] Read more.
In recent years, direct oral anticoagulants (DOAC) have accumulated evidence of efficacy and safety in various clinical scenarios and are approved for a wide spectrum of indications. Still, they are currently used off-label for left ventricular thrombus owing to a paucity of evidence. For the same reason, there is a lack of guideline indication as well. Our work is based on an exhaustive analysis of the available literature and provides a structured and detailed update on the use of DOACs in patients with left ventricle thrombus. The safety and efficacy of DOACs were analyzed in particular clinical scenarios. As far as we know, this is the first paper that analyzes DOACs in this approach. Full article
(This article belongs to the Collection Advances of Emergency and Intensive Care)
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24 pages, 1210 KiB  
Review
Potential Therapies Targeting the Metabolic Reprogramming of Diabetes-Associated Breast Cancer
by Hang Chee Erin Shum, Ke Wu, Jaydutt Vadgama and Yong Wu
J. Pers. Med. 2023, 13(1), 157; https://doi.org/10.3390/jpm13010157 - 14 Jan 2023
Cited by 3 | Viewed by 2396
Abstract
In recent years, diabetes-associated breast cancer has become a significant clinical challenge. Diabetes is not only a risk factor for breast cancer but also worsens its prognosis. Patients with diabetes usually show hyperglycemia and hyperinsulinemia, which are accompanied by different glucose, protein, and [...] Read more.
In recent years, diabetes-associated breast cancer has become a significant clinical challenge. Diabetes is not only a risk factor for breast cancer but also worsens its prognosis. Patients with diabetes usually show hyperglycemia and hyperinsulinemia, which are accompanied by different glucose, protein, and lipid metabolism disorders. Metabolic abnormalities observed in diabetes can induce the occurrence and development of breast cancer. The changes in substrate availability and hormone environment not only create a favorable metabolic environment for tumorigenesis but also induce metabolic reprogramming events required for breast cancer cell transformation. Metabolic reprogramming is the basis for the development, swift proliferation, and survival of cancer cells. Metabolism must also be reprogrammed to support the energy requirements of the biosynthetic processes in cancer cells. In addition, metabolic reprogramming is essential to enable cancer cells to overcome apoptosis signals and promote invasion and metastasis. This review aims to describe the major metabolic changes in diabetes and outline how cancer cells can use cellular metabolic changes to drive abnormal growth and proliferation. We will specifically examine the mechanism of metabolic reprogramming by which diabetes may promote the development of breast cancer, focusing on the role of glucose metabolism, amino acid metabolism, and lipid metabolism in this process and potential therapeutic targets. Although diabetes-associated breast cancer has always been a common health problem, research focused on finding treatments suitable for the specific needs of patients with concurrent conditions is still limited. Most studies are still currently in the pre-clinical stage and mainly focus on reprogramming the glucose metabolism. More research targeting the amino acid and lipid metabolism is needed. Full article
(This article belongs to the Section Mechanisms of Diseases)
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25 pages, 4779 KiB  
Article
Exploring Genetic and Neural Risk of Specific Reading Disability within a Nuclear Twin Family Case Study: A Translational Clinical Application
by Tina Thomas, Griffin Litwin, David J. Francis and Elena L. Grigorenko
J. Pers. Med. 2023, 13(1), 156; https://doi.org/10.3390/jpm13010156 - 14 Jan 2023
Viewed by 1421
Abstract
Imaging and genetic studies have characterized biological risk factors contributing to specific reading disability (SRD). The current study aimed to apply this literature to a family of twins discordant for SRD and an older sibling with reading difficulty. Intraclass correlations were used to [...] Read more.
Imaging and genetic studies have characterized biological risk factors contributing to specific reading disability (SRD). The current study aimed to apply this literature to a family of twins discordant for SRD and an older sibling with reading difficulty. Intraclass correlations were used to understand the similarity of imaging phenotypes between pairs. Reading-related genes and brain region phenotypes, including asymmetry indices representing the relative size of left compared to right hemispheric structures, were descriptively examined. SNPs that corresponded between the SRD siblings and not the typically developing (TD) siblings were in genes ZNF385D, LPHN3, CNTNAP2, FGF18, NOP9, CMIP, MYO18B, and RBFOX2. Imaging phenotypes were similar among all sibling pairs for grey matter volume and surface area, but cortical thickness in reading-related regions of interest (ROIs) was more similar among the siblings with SRD, followed by the twins, and then the TD twin and older siblings, suggesting cortical thickness may differentiate risk for this family. The siblings with SRD had more symmetry of cortical thickness in the transverse temporal and superior temporal gyri, while the TD sibling had greater rightward asymmetry. The TD sibling had a greater leftward asymmetry of grey matter volume and cortical surface area in the fusiform, supramarginal, and transverse temporal gyrus. This exploratory study demonstrated that reading-related risk factors appeared to correspond with SRD within this family, suggesting that early examination of biological factors may benefit early identification. Future studies may benefit from the use of polygenic risk scores or machine learning to better understand SRD risk. Full article
(This article belongs to the Special Issue Innovative Approaches to Neurodevelopmental Disorders)
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13 pages, 3128 KiB  
Article
The Prognostic Value of the GNRI in Patients with Stomach Cancer Undergoing Surgery
by Qianqian Zhang, Lilong Zhang, Qi Jin, Yongheng He, Mingsheng Wu, Hongxing Peng and Yijin Li
J. Pers. Med. 2023, 13(1), 155; https://doi.org/10.3390/jpm13010155 - 13 Jan 2023
Cited by 6 | Viewed by 2180
Abstract
Malnutrition often induces an adverse prognosis in cancer surgery patients. The elderly nutrition risk index (GNRI) is an example of the objective indicators of nutrition-related risks. We performed a meta-analysis to thoroughly examine the evidence for the GNRI in predicting the outcomes of [...] Read more.
Malnutrition often induces an adverse prognosis in cancer surgery patients. The elderly nutrition risk index (GNRI) is an example of the objective indicators of nutrition-related risks. We performed a meta-analysis to thoroughly examine the evidence for the GNRI in predicting the outcomes of patients undergoing stomach cancer surgery. Eligible articles were retrieved using PubMed, the Cochrane Library, EMBASE, and Google Scholar by 24 October 2022. The clinical outcomes were overall survival (OS), cancer-specific survival (CSS), and post-operative complications. A total of 11 articles with 5593 patients were included in this meta-analysis. The combined forest plot showed that for every unit increase in the preoperative GNRI score in patients with stomach cancer, their postoperative mortality was reduced by 5.6% (HR: 0.944; 95% CI: 0.933–0.956, p < 0.001). The pooled results also demonstrated that a low GNRI was correlated with poor OS (HR: 2.052; 95% CI: 1.726–2.440, p < 0.001) and CSS (HR: 1.684; 95% CI: 1.249–2.270, p = 0.001) in patients who underwent stomach cancer surgery. Postoperative complications were more likely to occur in patients with a low GNRI, as opposed to those with a high GNRI (OR: 1.768; 95% CI: 1.445–2.163, p < 0.001). There was no evidence of significant heterogeneity, and the sensitivity analysis supported the stability and dependability of the above results. the GNRI is a valuable predictor of long-term outcomes and complications in stomach cancer patients undergoing surgery. Full article
(This article belongs to the Special Issue Gastric Cancer: Innovations in Screening, Diagnosis and Treatment)
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14 pages, 337 KiB  
Review
Maternity Blues: A Narrative Review
by Valentina Tosto, Margherita Ceccobelli, Emanuela Lucarini, Alfonso Tortorella, Sandro Gerli, Fabio Parazzini and Alessandro Favilli
J. Pers. Med. 2023, 13(1), 154; https://doi.org/10.3390/jpm13010154 - 13 Jan 2023
Cited by 6 | Viewed by 5561
Abstract
Puerperium is a period of great vulnerability for the woman, associated with intense physical and emotional changes. Maternity blues (MB), also known as baby blues, postnatal blues, or post-partum blues, include low mood and mild, transient, self-limited depressive symptoms, which can be developed [...] Read more.
Puerperium is a period of great vulnerability for the woman, associated with intense physical and emotional changes. Maternity blues (MB), also known as baby blues, postnatal blues, or post-partum blues, include low mood and mild, transient, self-limited depressive symptoms, which can be developed in the first days after delivery. However, the correct identification of this condition is difficult because a shared definition and well-established diagnostic tools are not still available. A great heterogenicity has been reported worldwide regarding MB prevalence. Studies described an overall prevalence of 39%, ranging from 13.7% to 76%, according to the cultural and geographical contexts. MB is a well-established risk factor for shifting to more severe post-partum mood disorders, such as post-partum depression and postpartum psychosis. Several risk factors and pathophysiological mechanisms which could provide the foundation of MB have been the object of investigations, but only poor evidence and speculations are available until now. Taking into account its non-negligible prevalence after childbirth, making an early diagnosis of MB is important to provide adequate and prompt support to the mother, which may contribute to avoiding evolutions toward more serious post-partum disorders. In this paper, we aimed to offer an overview of the knowledge available of MB in terms of definitions, diagnosis tools, pathophysiological mechanisms, and all major clinical aspects. Clinicians should know MB and be aware of its potential evolutions in order to offer the most timely and effective evidence-based care. Full article
(This article belongs to the Special Issue Pregnancy Complication and Precision Medicine 2.0)
12 pages, 5291 KiB  
Article
A Deep Learning Method for Quantification of Femoral Head Necrosis Based on Routine Hip MRI for Improved Surgical Decision Making
by Adrian C. Ruckli, Andreas K. Nanavati, Malin K. Meier, Till D. Lerch, Simon D. Steppacher, Sébastian Vuilleumier, Adam Boschung, Nicolas Vuillemin, Moritz Tannast, Klaus A. Siebenrock, Nicolas Gerber and Florian Schmaranzer
J. Pers. Med. 2023, 13(1), 153; https://doi.org/10.3390/jpm13010153 - 12 Jan 2023
Cited by 3 | Viewed by 2676
Abstract
(1) Background: To evaluate the performance of a deep learning model to automatically segment femoral head necrosis (FHN) based on a standard 2D MRI sequence compared to manual segmentations for 3D quantification of FHN. (2) Methods: Twenty-six patients (thirty hips) with [...] Read more.
(1) Background: To evaluate the performance of a deep learning model to automatically segment femoral head necrosis (FHN) based on a standard 2D MRI sequence compared to manual segmentations for 3D quantification of FHN. (2) Methods: Twenty-six patients (thirty hips) with avascular necrosis underwent preoperative MR arthrography including a coronal 2D PD-w sequence and a 3D T1 VIBE sequence. Manual ground truth segmentations of the necrotic and unaffected bone were then performed by an expert reader to train a self-configuring nnU-Net model. Testing of the network performance was performed using a 5-fold cross-validation and Dice coefficients were calculated. In addition, performance across the three segmentations were compared using six parameters: volume of necrosis, volume of unaffected bone, percent of necrotic bone volume, surface of necrotic bone, unaffected femoral head surface, and percent of necrotic femoral head surface area. (3) Results: Comparison between the manual 3D and manual 2D segmentations as well as 2D with the automatic model yielded significant, strong correlations (Rp > 0.9) across all six parameters of necrosis. Dice coefficients between manual- and automated 2D segmentations of necrotic- and unaffected bone were 75 ± 15% and 91 ± 5%, respectively. None of the six parameters of FHN differed between the manual and automated 2D segmentations and showed strong correlations (Rp > 0.9). Necrotic volume and surface area showed significant differences (all p < 0.05) between early and advanced ARCO grading as opposed to the modified Kerboul angle, which was comparable between both groups (p > 0.05). (4) Conclusions: Our deep learning model to automatically segment femoral necrosis based on a routine hip MRI was highly accurate. Coupled with improved quantification for volume and surface area, as opposed to 2D angles, staging and course of treatment can become better tailored to patients with varying degrees of AVN. Full article
(This article belongs to the Special Issue Cutting-Edge in Arthroplasty: Before, While and after Surgery)
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13 pages, 828 KiB  
Article
The Association between Alexithymia and Social Media Addiction: Exploring the Role of Dysmorphic Symptoms, Symptoms Interference, and Self-Esteem, Controlling for Age and Gender
by Alessio Gori and Eleonora Topino
J. Pers. Med. 2023, 13(1), 152; https://doi.org/10.3390/jpm13010152 - 12 Jan 2023
Cited by 10 | Viewed by 3748
Abstract
Given the popularity of social media and the growing presence of these tools in the daily lives of individuals, research about the elements that can be linked to their problematic use appears to be of great importance. The objective of this study was [...] Read more.
Given the popularity of social media and the growing presence of these tools in the daily lives of individuals, research about the elements that can be linked to their problematic use appears to be of great importance. The objective of this study was to investigate the factors that may contribute to the levels of social media addiction, by focusing on the role of alexithymia, body image concern, and self-esteem, controlled for age and gender. A sample of 437 social media users (32.5% men, 67.5% women; Mage = 33.44 years, SD = 13.284) completed an online survey, including the Bergen Social Media Addiction Scale, Body Image Concern Inventory, Rosenberg Self-Esteem Scale, and Twenty-Item Toronto Alexithymia Scale, together with a demographic questionnaire. Results showed a significant association between alexithymia and social media addiction, with the total mediation of body image concern (and more in detail, body dissatisfaction) and the significant moderation of self-esteem. Gender and age showed significant effects in these relationships. Such findings may offer further insights into the field of clinical research on social media addiction and may provide useful information for effective clinical practice. Full article
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12 pages, 1093 KiB  
Article
Plasma Interleukin-6 Level Predicts the Risk of Arteriovenous Fistula Dysfunction in Patients Undergoing Maintenance Hemodialysis
by Jihyun Baek, Hyeyeon Lee, Taeyoung Yang, So-Young Lee, Yang Gyun Kim, Jin Sug Kim, ShinYoung Ahn, Kipyo Kim, Seok Hui Kang, Min-Jeong Lee, Dong-Young Lee, Hye Yun Jeong and Yu Ho Lee
J. Pers. Med. 2023, 13(1), 151; https://doi.org/10.3390/jpm13010151 - 12 Jan 2023
Cited by 2 | Viewed by 1482
Abstract
Systemic inflammation has been proposed as a relevant factor of vascular remodeling and dysfunction. We aimed to identify circulating inflammatory biomarkers that could predict future arteriovenous fistula (AVF) dysfunction in patients undergoing hemodialysis. A total of 282 hemodialysis patients were enrolled in this [...] Read more.
Systemic inflammation has been proposed as a relevant factor of vascular remodeling and dysfunction. We aimed to identify circulating inflammatory biomarkers that could predict future arteriovenous fistula (AVF) dysfunction in patients undergoing hemodialysis. A total of 282 hemodialysis patients were enrolled in this prospective multicenter cohort study. Plasma cytokine levels were measured at the time of data collection. The primary outcome was the occurrence of AVF stenosis and/or thrombosis requiring percutaneous transluminal angioplasty or surgery within the first year of enrollment. AVF dysfunction occurred in 38 (13.5%) patients during the study period. Plasma interleukin-6 (IL-6) levels were significantly higher in patients with AVF dysfunction than those without. Diabetes mellitus, low systolic blood pressure, and statin use were also associated with AVF dysfunction. The cumulative event rate of AVF dysfunction was the highest in IL-6 tertile 3 (p = 0.05), and patients in tertile 3 were independently associated with an increased risk of AVF dysfunction after multivariable adjustments (adjusted hazard ratio = 3.06, p = 0.015). In conclusion, circulating IL-6 levels are positively associated with the occurrence of incident AVF dysfunction in hemodialysis patients. Our data suggest that IL-6 may help clinicians identify those at high risk of impending AVF failure. Full article
(This article belongs to the Special Issue Precision Prevention and Care in Chronic Kidney Disease)
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15 pages, 3596 KiB  
Article
Severe Burn Injury Significantly Alters the Gene Expression and m6A Methylation Tagging of mRNAs and lncRNAs in Human Skin
by Yanqin Ran, Zhuoxian Yan, Mitao Huang, Situo Zhou, Fangqin Wu, Mengna Wang, Sifan Yang, Pihong Zhang, Xiaoyuan Huang, Bimei Jiang and Pengfei Liang
J. Pers. Med. 2023, 13(1), 150; https://doi.org/10.3390/jpm13010150 - 12 Jan 2023
Cited by 2 | Viewed by 1831
Abstract
N6-methyladenosine (m6A) modulates RNA metabolism and functions in cell differentiation, tissue development, and immune response. After acute burns, skin wounds are highly susceptible to infection and poor healing. However, our understanding of the effect of burn injuries on m6A methylation and their potential [...] Read more.
N6-methyladenosine (m6A) modulates RNA metabolism and functions in cell differentiation, tissue development, and immune response. After acute burns, skin wounds are highly susceptible to infection and poor healing. However, our understanding of the effect of burn injuries on m6A methylation and their potential mechanism is still limited. Human m6A-mRNA&lncRNA Epitranscriptomic microarray was used to obtain comprehensive mRNA and lncRNA transcriptome m6A profiling and gene expression patterns after burn injuries in human skin tissue. Bioinformatic and functional analyses were conducted to find molecular functions. Microarray profiling showed that 65 mRNAs and 39 lncRNAs were significantly hypermethylated; 5492 mRNAs and 754 lncRNAs were significantly hypomethylated. Notably, 3989 hypomethylated mRNAs were down-expressed and inhibited many wound healing biological processes and pathways including in the protein catabolic process and supramolecular fiber organization pathway; 39 hypermethylated mRNAs were up-expressed and influenced the cell surface receptor signaling pathway and inflammatory response. Moreover, we validated that m6A regulators (METTL14, METTL16, ALKBH5, FMR1, and HNRNPC) were significantly downregulated after burn injury which may be responsible for the alteration of m6A modification and gene expression. In summary, we found that homeostasis in the skin was disrupted and m6A modification may be a potential mechanism affecting trauma infection and wound healing. Full article
(This article belongs to the Special Issue Advances of Skin Disease)
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9 pages, 585 KiB  
Article
Comparison of Clinical and Imaginal Features According to the Pathological Grades of Dysplasia in Branch-Duct Intraductal Papillary Mucinous Neoplasm (BD-IPMN) for Personalized Medicine
by Ji Eun Na, Jae Keun Park, Jong Kyun Lee, Joo Kyung Park, Kwang Hyuck Lee and Kyu Taek Lee
J. Pers. Med. 2023, 13(1), 149; https://doi.org/10.3390/jpm13010149 - 12 Jan 2023
Viewed by 1688
Abstract
Background: In patients with BD-IPMN, surgical indications have been focused on finding malignant lesions (HGD, high-grade dysplasia/IC, invasive carcinoma). The aim of this study was to compare the preoperative factors that distinguish HGD from LGD (low-grade dysplasia) and HGD from IC to find [...] Read more.
Background: In patients with BD-IPMN, surgical indications have been focused on finding malignant lesions (HGD, high-grade dysplasia/IC, invasive carcinoma). The aim of this study was to compare the preoperative factors that distinguish HGD from LGD (low-grade dysplasia) and HGD from IC to find the optimal pathologic target for surgery according to individuals, considering surgical risks and outcomes. Methods: We retrospectively analyzed 232 patients with BD-IPMN diagnosed based on pathology after surgery and preoperative images. The primary outcome was identifying preoperative factors distinguishing HGD from LGD, and HGD from IC. Results: In patients with LGD/HGD, a solid component or an enhancing mural nodule ≥ 5 mm (OR = 9.29; 95% CI: 3.3–54.12; p < 0.000) and thickened/enhancing cyst walls (OR = 6.95; 95% CI: 1.68–33.13; p = 0.008) were associated with HGD. In patients with malignant lesions (HGD/IC), increased serum CA 19-9 (OR = 12.59; 95% CI: 1.81–87.44; p = 0.006) was associated with IC. Conclusions: The predictive factors for HGD were the presence of a solid component or an enhancing mural nodule ≥ 5 mm and thickened/enhancing cyst walls compared with LGD, and if accompanied by increased CA 19-9, it might be necessary to urgently evaluate the lesion due to the possibility of progression to IC. Based on this finding, we need to find HGD as the optimal pathologic target for surgery to improve survival in low-surgical-risk patients, and IC could be assumed to be the optimal pathologic target for surgery in high-surgical-risk patients because of high morbidity and mortality associated with surgery. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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6 pages, 2233 KiB  
Technical Note
Plasma Electrolytic Polished Patient-Specific Orbital Implants in Clinical Use—A Technical Note
by Lara Schorn, Max Wilkat, Julian Lommen, Maria Borelli, Sajjad Muhammad and Majeed Rana
J. Pers. Med. 2023, 13(1), 148; https://doi.org/10.3390/jpm13010148 - 11 Jan 2023
Cited by 3 | Viewed by 1163
Abstract
This technical note describes the technique of plasma electrolytic polishing on orbital patient-specific implants and demonstrates clinical handling and use by the insertion of a plasma electrolytic polished orbital implant into a patient. Full article
(This article belongs to the Special Issue Computer Assisted Maxillo-Facial Surgery)
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7 pages, 629 KiB  
Case Report
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization
by Michela Ripolone, Simona Zanotti, Laura Napoli, Dario Ronchi, Patrizia Ciscato, Giacomo Pietro Comi, Maurizio Moggio and Monica Sciacco
J. Pers. Med. 2023, 13(1), 147; https://doi.org/10.3390/jpm13010147 - 11 Jan 2023
Cited by 1 | Viewed by 1574
Abstract
A 53-year-old man approached our Neuromuscular Unit following an incidental finding of hyperckemia. Similar to his mother who had died at the age of 77 years, he was diabetic and had a few lipomas. The patient’s two sisters, aged 60 and 50 years, [...] Read more.
A 53-year-old man approached our Neuromuscular Unit following an incidental finding of hyperckemia. Similar to his mother who had died at the age of 77 years, he was diabetic and had a few lipomas. The patient’s two sisters, aged 60 and 50 years, did not have any neurological symptoms. Proband’s skeletal muscle biopsy showed several COX-negative fibers, many of which were “ragged red”. Genetic analysis revealed the presence of the A8344G mtDNA mutation, which is most commonly associated with a maternally inherited multisystem mitochondrial disorder known as MERRF (myoclonus epilepsy with ragged-red fibers). The two sisters also carry the mutation. Family members on the maternal side were reported healthy. Although atypical phenotypes have been reported in association with the A8344G mutation, central nervous system (CSN) manifestations other than myoclonic epilepsy are always reported in the family tree. If present, our four-generation family manifestations are late-onset and do not affect CNS. This could be explained by the fact that the mutational load remains low and therefore prevents tissues/organs from reaching the pathologic threshold. The fact that this occurs throughout generations and that CNS, which has the highest energetic demand, is clinically spared, suggests that regulatory genes and/or pathways affect mitochondrial segregation and replication, and protect organs from progressive dysfunction. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)
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18 pages, 6994 KiB  
Article
Microglia-Derived Spp1 Promotes Pathological Retinal Neovascularization via Activating Endothelial Kit/Akt/mTOR Signaling
by Qian Bai, Xin Wang, Hongxiang Yan, Lishi Wen, Ziyi Zhou, Yating Ye, Yutong Jing, Yali Niu, Liang Wang, Zifeng Zhang, Jingbo Su, Tianfang Chang, Guorui Dou, Yusheng Wang and Jiaxing Sun
J. Pers. Med. 2023, 13(1), 146; https://doi.org/10.3390/jpm13010146 - 11 Jan 2023
Cited by 4 | Viewed by 2640
Abstract
Pathological retinal neovascularization (RNV) is the main character of ischemic ocular diseases, which causes severe visual impairments. Though retinal microglia are well acknowledged to play important roles in both physiological and pathological angiogenesis, the molecular mechanisms by which microglia communicates with endothelial cells [...] Read more.
Pathological retinal neovascularization (RNV) is the main character of ischemic ocular diseases, which causes severe visual impairments. Though retinal microglia are well acknowledged to play important roles in both physiological and pathological angiogenesis, the molecular mechanisms by which microglia communicates with endothelial cells (EC) remain unknown. In this study, using single-cell RNA sequencing, we revealed that the pro-inflammatory secreted protein Spp1 was the most upregulated gene in microglia in the mouse model of oxygen-induced retinopathy (OIR). Bioinformatic analysis showed that the expression of Spp1 in microglia was respectively regulated via nuclear factor-kappa B (NF-κB) and hypoxia-inducible factor 1α (HIF-1α) pathways, which was further confirmed through in vitro assays using BV2 microglia cell line. To mimic microglia-EC communication, the bEnd.3 endothelial cell line was cultured with conditional medium (CM) from BV2. We found that adding recombinant Spp1 to bEnd.3 as well as treating with hypoxic BV2 CM significantly enhanced EC proliferation and migration, while Spp1 neutralizing blocked those CM-induced effects. Moreover, RNA sequencing of BV2 CM-treated bEnd.3 revealed a significant downregulation of Kit, one of the type III tyrosine kinase receptors that plays a critical role in cell growth and activation. We further revealed that Spp1 increased phosphorylation and expression level of Akt/mTOR signaling cascade, which might account for its pro-angiogenic effects. Finally, we showed that intravitreal injection of Spp1 neutralizing antibody attenuated pathological RNV and improved visual function. Taken together, our work suggests that Spp1 mediates microglia-EC communication in RNV via activating endothelial Kit/Akt/mTOR signaling and is a potential target to treat ischemic ocular diseases. Full article
(This article belongs to the Special Issue Retinopathy: Causes, Treatment, Outcomes)
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7 pages, 492 KiB  
Article
A Case Series of Intermittent Theta Burst Stimulation Treatment for Depressive Symptoms in Individuals with Autistic Spectrum Disorder: Real World TMS Study in the Tokyo Metropolitan Area
by Yoshihiro Noda, Kyoshiro Fujii, Yu Mimura, Keita Taniguchi, Shinichiro Nakajima and Ryosuke Kitahata
J. Pers. Med. 2023, 13(1), 145; https://doi.org/10.3390/jpm13010145 - 11 Jan 2023
Viewed by 1664
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. While the symptoms of ASD are present from early childhood, there has been an increase in the number of adults [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. While the symptoms of ASD are present from early childhood, there has been an increase in the number of adults with ASD in recent years who visit healthcare professionals to seek the treatment of depression due to maladjustment resulting from the core symptoms and are eventually diagnosed with ASD. Currently, no treatment is available for the core symptoms of ASD, and pharmacotherapy and psychotherapy are often provided mainly for secondary disorders such as depression and anxiety. However, the effectiveness of these therapies is often limited in individuals with ASD compared to those with major depression. In this context, neuromodulation therapies such as transcranial magnetic stimulation (TMS) have gained increasing attention as potential treatments. In this case series, we retrospectively analyzed 18 cases with ASD from the TMS registry data who had failed to improve depressive symptoms with pharmacotherapy and were treated with intermittent theta burst stimulation (iTBS) therapy to the left dorsolateral prefrontal cortex (DLPFC). We also explored the relationship between treatment efficacy and clinical epidemiological profile. Our results indicated that, despite the limitations of an open-label preliminary case series, TMS therapy in the form of iTBS may have some beneficial therapeutic effects on depressive symptoms in individuals with ASD. The present findings warrant further validation through randomized, sham-controlled trials with larger sample sizes. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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9 pages, 3489 KiB  
Article
Relevance of Costovertebral Exarticulation of the First Rib in Neurogenic Thoracic Outlet Syndrome: A Retrospective Clinical Study
by Franz Lassner, Michael Becker and Andreas Prescher
J. Pers. Med. 2023, 13(1), 144; https://doi.org/10.3390/jpm13010144 - 11 Jan 2023
Cited by 3 | Viewed by 1629
Abstract
Purpose: The failure rate for operative decompression in neurogenic thoracic outlet syndrome (NTOS) is high compared to more distal nerve compression syndromes, such as cubital or carpal tunnel syndrome. Herein, we aimed to determine if a more radical approach, namely costovertebral exarticulation of [...] Read more.
Purpose: The failure rate for operative decompression in neurogenic thoracic outlet syndrome (NTOS) is high compared to more distal nerve compression syndromes, such as cubital or carpal tunnel syndrome. Herein, we aimed to determine if a more radical approach, namely costovertebral exarticulation of the first rib, may improve the postoperative results in patients with NTOS. Methods: From October 2002 to December 2020, 105 operative decompressions in 95 patients were evaluated; in 10 cases, decompressions were performed bilaterally. We presented the clinical outcomes of 59 exarticulations compared to those of 46 conventional resections. Evaluation was performed at a minimum of one year post-operation using the DASH questionnaire. Results: The exarticulation group presented with significantly better clinical outcomes (two-sample t-test assuming unequal variances, p < 0.001). Conclusions: This study showed that significantly better results were obtained when exarticulation of the first rib was performed in patients with NTOS. This finding supports the hypothesis that, in certain cases, the proximal portion of the first rib plays a pivotal role in the pathogenesis of NTOS. Full article
(This article belongs to the Special Issue Diagnosis and Treatment in Peripheral Nerve Surgery)
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10 pages, 4212 KiB  
Article
Comparison of Pedicled Adductor Longus and Pedicled Sartorius Flap in Inguinal Reconstruction, a Fresh Cadaver Study
by Hong Zhang, Zhenfeng Li, Jianmin Li, Binghong Zhu and Qingjia Xu
J. Pers. Med. 2023, 13(1), 143; https://doi.org/10.3390/jpm13010143 - 11 Jan 2023
Cited by 1 | Viewed by 1369
Abstract
Reconstruction surgeries in the inguinal area are challenging for vascular surgeons, oncologists, orthopedists, and others. The pedicled sartorius flap is the most commonly used flap for reconstruction. The pedicled adductor longus is reported as a new method to reconstruct the inguinal region. The [...] Read more.
Reconstruction surgeries in the inguinal area are challenging for vascular surgeons, oncologists, orthopedists, and others. The pedicled sartorius flap is the most commonly used flap for reconstruction. The pedicled adductor longus is reported as a new method to reconstruct the inguinal region. The related anatomic study is rare. This work aims to make a comparison of pedicled adductor longus and pedicled sartorius on cadavers for better use. Out of the 12 thighs in the 6 cadavers analyzed, the author compares two surgical methods in terms of surgical details, exposure of vascular and nerve pedicle, flap harvesting, flap transposition and flap volume, etc. Through the course of this study, it is showed that the adductor longus flap had a sizable advantage over the sartorius flap in terms of exposure, harvesting, and flap volume. Full article
(This article belongs to the Special Issue Recent Advances in Orthopaedic Surgery and Pathogenesis)
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12 pages, 1636 KiB  
Article
Altered Cerebral Blood Flow in the Progression of Chronic Kidney Disease
by Weizhao Lin, Mengchen Liu, Xixin Wu, Shandong Meng, Kanghui Yu, Huanhuan Su, Quanhai Liang, Feng Chen, Jincheng Li, Wenqin Xiao, Huangsheng Ling, Yunfan Wu and Guihua Jiang
J. Pers. Med. 2023, 13(1), 142; https://doi.org/10.3390/jpm13010142 - 11 Jan 2023
Cited by 1 | Viewed by 1247
Abstract
Background: In chronic kidney disease (CKD), cognitive impairment is a definite complication. However, the mechanisms of how CKD leads to cognitive impairment are not clearly known. Methods: Cerebral blood flow (CBF) information was collected from 37 patients with CKD (18 in stage 3; [...] Read more.
Background: In chronic kidney disease (CKD), cognitive impairment is a definite complication. However, the mechanisms of how CKD leads to cognitive impairment are not clearly known. Methods: Cerebral blood flow (CBF) information was collected from 37 patients with CKD (18 in stage 3; 19 in stage 4) and 31 healthy controls (HCs). For CKD patients, we also obtained laboratory results as well as neuropsychological tests. We conducted brain perfusion imaging studies using arterial spin labeling and calculated the relationship between regional CBF changes and various clinical indicators and neuropsychological tests. We also generated receiver operator characteristic (ROC) curves to explore whether CBF value changes in certain brain regions can be used to identify CKD. Results: Compared with HCs, CBF decreased in the right insula and increased in the left hippocampus in the CKD4 group; through partial correlation analysis, we found that CBF in the right insula was negatively correlated with the number connection test A (NCT-A) (r = −0.544, p = 0.024); CBF in the left hippocampus was positively correlated with blood urea nitrogen (r = 0.649, p = 0.005) and negatively correlated with serum calcium level (r = −0.646, p = 0.005). By comparing the ROC curve area, it demonstrated that altered CBF values in the right insula (AUC = 0.861, p < 0.01) and left hippocampus (AUC = 0.862, p < 0.01) have a good ability to identify CKD. Conclusions: Our study found that CBF alterations in the left hippocampus and the right insula brain of adult patients with stage 4 CKD were correlated with disease severity or laboratory indicators. These findings provide further insight into the relationship between altered cerebral perfusion and cognitive impairment in patients with non-end-stage CKD as well as, additional information the underlying neuropathophysiological mechanisms. Full article
(This article belongs to the Special Issue Brain Imaging and Personalized Medicine in Neuropsychiatric Disorders)
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3 pages, 167 KiB  
Editorial
A Long Road to Personalized Medicine in Heart Failure and Cardiomyopathies
by Yuji Nagatomo
J. Pers. Med. 2023, 13(1), 141; https://doi.org/10.3390/jpm13010141 - 11 Jan 2023
Cited by 1 | Viewed by 1049
Abstract
Over the past few decades, a drastic increase in the prevalence of heart failure (HF) has been observed worldwide, and is now often referred to as the “Heart failure pandemic” [...] Full article
(This article belongs to the Special Issue Cardiomyopathy and Precision Medicine)
17 pages, 873 KiB  
Review
Management of Hyponatremia in Heart Failure: Practical Considerations
by Victoriţa Şorodoc, Andreea Asaftei, Gabriela Puha, Alexandr Ceasovschih, Cătălina Lionte, Oana Sîrbu, Cristina Bologa, Raluca Ecaterina Haliga, Mihai Constantin, Adorata Elena Coman, Ovidiu Rusalim Petriș, Alexandra Stoica and Laurenţiu Şorodoc
J. Pers. Med. 2023, 13(1), 140; https://doi.org/10.3390/jpm13010140 - 10 Jan 2023
Cited by 4 | Viewed by 12632
Abstract
Hyponatremia is commonly encountered in the setting of heart failure, especially in decompensated, fluid-overloaded patients. The pathophysiology of hyponatremia in patients with heart failure is complex, including numerous mechanisms: increased activity of the sympathetic nervous system and the renin–angiotensin–aldosterone system, high levels of [...] Read more.
Hyponatremia is commonly encountered in the setting of heart failure, especially in decompensated, fluid-overloaded patients. The pathophysiology of hyponatremia in patients with heart failure is complex, including numerous mechanisms: increased activity of the sympathetic nervous system and the renin–angiotensin–aldosterone system, high levels of arginine vasopressin and diuretic use. Symptoms are usually mild but hyponatremic encephalopathy can occur if there is an acute decrease in serum sodium levels. It is crucial to differentiate between dilutional hyponatremia, where free water excretion should be promoted, and depletional hyponatremia, where administration of saline is needed. An inappropriate correction of hyponatremia may lead to osmotic demyelination syndrome which can cause severe neurological symptoms. Treatment options for hyponatremia in heart failure, such as water restriction or the use of hypertonic saline with loop diuretics, have limited efficacy. The aim of this review is to summarize the principal mechanisms involved in the occurrence of hyponatremia, to present the main guidelines for the treatment of hyponatremia, and to collect and analyze data from studies which target new treatment options, such as vaptans. Full article
(This article belongs to the Collection Advances of Emergency and Intensive Care)
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10 pages, 2188 KiB  
Article
Assessment of the Accuracy of Two Different Dynamic Navigation System Registration Methods for Dental Implant Placement in the Posterior Area: An In Vitro Study
by Tai Wei, Feifei Ma, Feng Sun and Yu Ma
J. Pers. Med. 2023, 13(1), 139; https://doi.org/10.3390/jpm13010139 - 10 Jan 2023
Cited by 3 | Viewed by 1268
Abstract
Purpose: To compare the U-tube and cusp dynamic navigation system registration methods in the use of dental implant placement, and to assess the influence of the location of missing teeth on these registrations. Methods: 32 resin mandible models and 64 implants were utilized, [...] Read more.
Purpose: To compare the U-tube and cusp dynamic navigation system registration methods in the use of dental implant placement, and to assess the influence of the location of missing teeth on these registrations. Methods: 32 resin mandible models and 64 implants were utilized, with implants being placed using one of the two registration methods selected at random. Accuracy was measured through the superimposition of the final and planned implant positions. Angular deviation, 3D entry deviation, and 3D apex deviation were analyzed. Results: The overall mean 3D deviation was 1.089 ± 0.515 mm at the entry point and 1.174 ± 0.531 mm at the apex point, and mean angular deviation was 1.970 ± 1.042 degrees. No significant difference (p > 0.05) was observed when comparing these two registration methods. However, the U-tube method showed significant difference when assessing the location of missing teeth (without distal-extension absence and distal-extension absence), whereas cusp registration was unaffected. Conclusions: Both the U-tube and cusp dynamic navigation system registration methods are accurate when implemented in vitro. Besides, the cusp registration technique can also overcome several of the limitations of the U-tube approach and the accuracy of it was not influenced by the location of the missing teeth, highlighting it as a method worthy of further clinical research. Full article
(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)
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13 pages, 1267 KiB  
Article
Epidemiology and Risk Factors of UTIs in Children—A Single-Center Observation
by Maria Daniel, Hanna Szymanik-Grzelak, Janusz Sierdziński, Edyta Podsiadły, Magdalena Kowalewska-Młot and Małgorzata Pańczyk-Tomaszewska
J. Pers. Med. 2023, 13(1), 138; https://doi.org/10.3390/jpm13010138 - 10 Jan 2023
Cited by 9 | Viewed by 2754
Abstract
Urinary tract infections (UTIs) are one of childhood’s most common bacterial infections. The study aimed to determine the clinical symptoms, laboratory tests, risk factors, and etiology of different UTIs in children admitted to pediatric hospitals for three years. Methods: Patients with positive urine [...] Read more.
Urinary tract infections (UTIs) are one of childhood’s most common bacterial infections. The study aimed to determine the clinical symptoms, laboratory tests, risk factors, and etiology of different UTIs in children admitted to pediatric hospitals for three years. Methods: Patients with positive urine cultures diagnosed with acute pyelonephritis (APN) or cystitis (CYS) were analyzed for clinical symptoms, laboratory tests, risk factors, and etiology, depending on their age and sex. Results: We studied 948 children with UTIs (531 girls and 417 boys), with a median age of 12 (IQR 5–48 months). A total of 789 children had clinical symptoms; the main symptom was fever (63.4% of patients). Specific symptoms of UTIs were presented only in 16.3% of patients. Children with APN had shown significantly more frequent loss of appetite, vomiting, lethargy, seizures, and less frequent dysuria and haematuria than children with CYS. We found significantly higher median WBC, CRP, and leukocyturia in children with APN than with CYS. The risk factors of UTIs were presented in 46.6% of patients, of which 35.6% were children with APN and 61.7% with CYS. The main risk factor was CAKUT, more frequently diagnosed in children with CYS than APN, mainly in children <2 years. The most commonly isolated bacteria were Escherichia coli (74%). There was a higher percentage of urine samples with E. coli in girls than in boys. Other bacteria found were Klebsiella species, Pseudomonas aeruginosa, Proteus mirabilis, and Enterococcus species. Conclusions: Patients with APN were younger and had higher inflammatory markers. Often, fever is the only symptom of UTI in children, and other clinical signs are usually non-specific. The most common UTI etiology is E. coli, regardless of the clinical presentation and risk factors. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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10 pages, 580 KiB  
Article
Partial Two-Stage Exchange for Infected Total Hip Arthroplasty: A Treatment to Take into Account
by Miguel Moreno-Romero, Alejandro Ordas-Bayon, Alejandro Gomez-Rice, Miguel A. Ortega and Basilio J. De La Torre Escuredo
J. Pers. Med. 2023, 13(1), 137; https://doi.org/10.3390/jpm13010137 - 10 Jan 2023
Cited by 2 | Viewed by 1369
Abstract
Introduction: Two-stage revision is the gold standard for chronic periprosthetic joint infection (PJI). The removal of well-fixed implants, especially the femoral component, can be extremely difficult and additional osteotomies may be needed, which is time-consuming and results in bone stock loss. When the [...] Read more.
Introduction: Two-stage revision is the gold standard for chronic periprosthetic joint infection (PJI). The removal of well-fixed implants, especially the femoral component, can be extremely difficult and additional osteotomies may be needed, which is time-consuming and results in bone stock loss. When the femoral stem is osseointegrated, there is no clear indication for the use of partial two-stage revision. The primary objective was to assess infection eradication after surgery. Methods: Retrospective study of specific case series. A total of eight patients with a chronic uncemented PJI, in the setting of complex revision surgeries, were treated with partial two-stage revision, which included selective retention of the well-fixed femoral component and complete acetabular removal. Stem retention was carried out regardless of the bacteria or associated comorbidities. Results: All patients were re-revision cases with at least two previous surgeries (range, 2–4). Complex revisions were performed in five cases (non-articulated spacer) and simple revisions in three cases (articulated spacer). The minimum follow-up time was 24 months (range, 24–132 months). The infection eradication rate at final follow-up was 100%. Conclusion: Partial two-stage reconstruction is a promising technique for the treatment of chronic PJI in patients with a well-fixed stem and complex re-revision acetabular procedures. Further prospective studies and prolonged follow-ups are required to confirm our results. Full article
(This article belongs to the Special Issue Innovations in Knee and Hip Arthroplasty)
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10 pages, 636 KiB  
Review
Practical Aspects of Esophageal Pressure Monitoring in Patients with Acute Respiratory Distress Syndrome
by Pavel Dostal and Vlasta Dostalova
J. Pers. Med. 2023, 13(1), 136; https://doi.org/10.3390/jpm13010136 - 10 Jan 2023
Cited by 1 | Viewed by 1844
Abstract
Esophageal pressure (Pes) monitoring is a minimally invasive advanced respiratory monitoring method with the potential to guide ventilation support management. Pes monitoring enables the separation of lung and chest wall mechanics and estimation of transpulmonary pressure, which is recognized as [...] Read more.
Esophageal pressure (Pes) monitoring is a minimally invasive advanced respiratory monitoring method with the potential to guide ventilation support management. Pes monitoring enables the separation of lung and chest wall mechanics and estimation of transpulmonary pressure, which is recognized as an important risk factor for lung injury during both spontaneous breathing and mechanical ventilation. Appropriate balloon positioning, calibration, and measurement techniques are important to avoid inaccurate results. Both the approach of using absolute expiratory Pes values and the approach based on tidal Pes difference have shown promising results for ventilation adjustments, with the potential to decrease the risk of ventilator-induced lung injury. Full article
(This article belongs to the Special Issue Precision Medicine for Acute Respiratory Distress Syndrome (ARDS))
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18 pages, 3437 KiB  
Article
Alternatively Spliced Isoforms of MUC4 and ADAM12 as Biomarkers for Colorectal Cancer Metastasis
by Saleh Althenayyan, Mohammed H. AlMuhanna, Abdulkareem AlAbdulrahman, Bandar Alghanem, Suliman A. Alsagaby, Abdulaziz Alfahed, Glowi Alasiri and Mohammad Azhar Aziz
J. Pers. Med. 2023, 13(1), 135; https://doi.org/10.3390/jpm13010135 - 10 Jan 2023
Cited by 1 | Viewed by 1978
Abstract
There is a pertinent need to develop prognostic biomarkers for practicing predictive, preventive and personalized medicine (PPPM) in colorectal cancer metastasis. The analysis of isoform expression data governed by alternative splicing provides a high-resolution picture of mRNAs in a defined condition. This information [...] Read more.
There is a pertinent need to develop prognostic biomarkers for practicing predictive, preventive and personalized medicine (PPPM) in colorectal cancer metastasis. The analysis of isoform expression data governed by alternative splicing provides a high-resolution picture of mRNAs in a defined condition. This information would not be available by studying gene expression changes alone. Hence, we utilized our prior data from an exon microarray and found ADAM12 and MUC4 to be strong biomarker candidates based on their alternative splicing scores and pattern. In this study, we characterized their isoform expression in a cell line model of metastatic colorectal cancer (SW480 & SW620). These two genes were found to be good prognostic indicators in two cohorts from The Cancer Genome Atlas database. We studied their exon structure using sequence information in the NCBI and ENSEMBL genome databases to amplify and validate six isoforms each for the ADAM12 and MUC4 genes. The differential expression of these isoforms was observed between normal, primary and metastatic colorectal cancer cell lines. RNA-Seq analysis further proved the differential expression of the gene isoforms. The isoforms of MUC4 and ADAM12 were found to change expression levels in response to 5-Fluorouracil (5-FU) treatment in a dose-, time- and cell line-dependent manner. Furthermore, we successfully detected the protein isoforms of ADAM12 and MUC4 in cell lysates, reflecting the differential expression at the protein level. The change in the mRNA and protein expression of MUC4 and ADAM12 in primary and metastatic cells and in response to 5-FU qualifies them to be studied as potential biomarkers. This comprehensive study underscores the importance of studying alternatively spliced isoforms and their potential use as prognostic and/or predictive biomarkers in the PPPM approach towards cancer. Full article
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20 pages, 4093 KiB  
Review
Imaging Features of Main Hepatic Resections: The Radiologist Challenging
by Carmen Cutolo, Roberta Fusco, Igino Simonetti, Federica De Muzio, Francesca Grassi, Piero Trovato, Pierpaolo Palumbo, Federico Bruno, Nicola Maggialetti, Alessandra Borgheresi, Alessandra Bruno, Giuditta Chiti, Eleonora Bicci, Maria Chiara Brunese, Andrea Giovagnoni, Vittorio Miele, Antonio Barile, Francesco Izzo and Vincenza Granata
J. Pers. Med. 2023, 13(1), 134; https://doi.org/10.3390/jpm13010134 - 10 Jan 2023
Viewed by 1908
Abstract
Liver resection is still the most effective treatment of primary liver malignancies, including hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA), and of metastatic disease, such as colorectal liver metastases. The type of liver resection (anatomic versus non anatomic resection) depends on different features, mainly [...] Read more.
Liver resection is still the most effective treatment of primary liver malignancies, including hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA), and of metastatic disease, such as colorectal liver metastases. The type of liver resection (anatomic versus non anatomic resection) depends on different features, mainly on the type of malignancy (primary liver neoplasm versus metastatic lesion), size of tumor, its relation with blood and biliary vessels, and the volume of future liver remnant (FLT). Imaging plays a critical role in postoperative assessment, offering the possibility to recognize normal postoperative findings and potential complications. Ultrasonography (US) is the first-line diagnostic tool to use in post-surgical phase. However, computed tomography (CT), due to its comprehensive assessment, allows for a more accurate evaluation and more normal findings than the possible postoperative complications. Magnetic resonance imaging (MRI) with cholangiopancreatography (MRCP) and/or hepatospecific contrast agents remains the best tool for bile duct injuries diagnosis and for ischemic cholangitis evaluation. Consequently, radiologists should be familiar with the surgical approaches for a better comprehension of normal postoperative findings and of postoperative complications. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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16 pages, 1335 KiB  
Review
Insights into Personalised Medicine in Bronchiectasis
by Clementine S. Fraser and Ricardo J. José
J. Pers. Med. 2023, 13(1), 133; https://doi.org/10.3390/jpm13010133 - 10 Jan 2023
Cited by 1 | Viewed by 4233
Abstract
Bronchiectasis is a heterogenous disease with multiple aetiologies resulting in inflammation and dilatation of the airways with associated mucus production and chronic respiratory infection. The condition is being recognised ever more frequently as the availability of computed tomography increases. It is associated with [...] Read more.
Bronchiectasis is a heterogenous disease with multiple aetiologies resulting in inflammation and dilatation of the airways with associated mucus production and chronic respiratory infection. The condition is being recognised ever more frequently as the availability of computed tomography increases. It is associated with significant morbidity and healthcare-related costs. With new understanding of the disease process, varying endotypes, identification of underlying causes and treatable traits, the management of bronchiectasis can be increasingly personalised. Full article
(This article belongs to the Special Issue Treatment, Prevention and Multidisciplinarity of Respiratory Problems)
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13 pages, 1154 KiB  
Article
Non-Typical Clinical Presentation of COVID-19 Patients in Association with Disease Severity and Length of Hospital Stay
by Alexandros Skourtis, Konstantinos Ekmektzoglou, Theodoros Xanthos, Stella Stouraitou and Nicoletta Iacovidou
J. Pers. Med. 2023, 13(1), 132; https://doi.org/10.3390/jpm13010132 - 10 Jan 2023
Cited by 2 | Viewed by 1397
Abstract
Background: This study aimed to investigate the incidence of non-typical symptoms in ambulatory patients with mild-to-moderate COVID-19 infection and their potential association with disease progression. Materials and methods: Data on the symptomatology of COVID-19 patients presenting to the fast-track emergency department were collected [...] Read more.
Background: This study aimed to investigate the incidence of non-typical symptoms in ambulatory patients with mild-to-moderate COVID-19 infection and their potential association with disease progression. Materials and methods: Data on the symptomatology of COVID-19 patients presenting to the fast-track emergency department were collected between March 2020 and March 2021. Fever, cough, shortness of breath, and fatigue-weakness were defined as “typical” symptoms, whereas all other symptoms such as nasal congestion, rhinorrhea, gastrointestinal symptoms, etc., were defined as “non-typical”. Results: A total of 570 COVID-19 patients with a mean age of 42.25 years were included, the majority of whom were male (61.3%; N = 349), and were divided according to their symptoms into two groups. The mean length of hospital stay was found to be 9.5 days. A higher proportion of patients without non-typical symptoms were admitted to the hospital (p = 0.001) and the ICU (p = 0.048) as well. No significant differences were observed between non-typical symptoms and outcome (p = 0.685). Patients who did not demonstrate at least one non-typical symptom had an extended length of stay (p = 0.041). No statistically significant differences in length of hospital stay were associated with individual symptoms. Conclusion: With the possible exception of gastrointestinal symptoms, non-typical symptoms of COVID-19 at baseline appear to predispose to a milder disease. Full article
(This article belongs to the Section Evidence Based Medicine)
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9 pages, 1012 KiB  
Article
Factors Associated with Unplanned Transfer of Patients with Brain Tumor from Inpatient Rehabilitation Unit to Primary Acute Care Units
by Gyoung Ho Nam and Won Hyuk Chang
J. Pers. Med. 2023, 13(1), 131; https://doi.org/10.3390/jpm13010131 - 10 Jan 2023
Cited by 1 | Viewed by 1409
Abstract
Inpatient rehabilitation should be assessed to improve each functional domain in patients with brain tumor. However, no previous study has reported risk factors for unplanned transfer of this patient population to primary acute care units during a comprehensive inpatient rehabilitation. The objective of [...] Read more.
Inpatient rehabilitation should be assessed to improve each functional domain in patients with brain tumor. However, no previous study has reported risk factors for unplanned transfer of this patient population to primary acute care units during a comprehensive inpatient rehabilitation. The objective of this study was to investigate the percentage of unplanned transfer of brain tumor rehabilitation inpatients to primary acute care units compared with stroke patients and factors associated with such unplanned transfer. Data of 137 patients with brain tumor who were transferred to the department of physical and rehabilitation medicine were retrospectively reviewed. For comparison, data of 438 patients with subacute stroke were also obtained. Included patients were divided into an unplanned transfer group and a control group based on whether they required a transfer to another department for acute care before completing their comprehensive inpatient rehabilitation. Reasons for unplanned transfers were classified based on medical or surgical conditions. The incidence of unplanned transfers to the medical or surgical department was significantly higher in patients with brain tumor (15.3%) than in stroke patients (7.1%) (p < 0.05). Most of unplanned transfers occurred within two weeks of the comprehensive inpatient rehabilitation for patients with brain tumor. There was a significantly higher incidence of unplanned transfers in patients with a primary tumor than in those with a metastatic tumor (15.9% vs. 4.8%, p < 0.05). In addition, the frequency of chemotherapy or radiotherapy was significantly (p < 0.05) higher in the unplanned transfer group than in the control group. The most common cause of an unplanned transfer was a neurologic cause (90.0%) in patients with brain tumor and an infectious disease such as pneumonia (51.6%) in stroke patients. In conclusion, these results demonstrated a higher incidence of unplanned transfers in patients with brain tumor than in stroke patients during intensive inpatient rehabilitation. Proportions of those with neurological problems were relatively higher in patients with brain tumor than in patients with subacute stroke. Full article
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