Journal of Personalized Medicine

12 pages, 1783 KiB

Open AccessArticle

Cemiplimab as First Line Therapy in Advanced Penile Squamous Cell Carcinoma: A Real-World Experience

by Keren Rouvinov, Gal Mazor, Ella Kozlener, Amichay Meirovitz, Noa Shani Shrem, Omar Abu Saleh, Sondos Shalata, Alexander Yakobson and Walid Shalata

J. Pers. Med. 2023, 13(11), 1623; https://doi.org/10.3390/jpm13111623 - 20 Nov 2023

Cited by 1 | Viewed by 1080

Abstract

In the treatment of cancer, immune checkpoint inhibitors (ICIs) have demonstrated significantly greater effectiveness compared to conventional cytotoxic or platinum-based chemotherapies. To assess the efficacy of ICI’s in penile squamous cell carcinoma (pSCC) we performed a retrospective observational study. We reviewed electronic medical [...] Read more.

In the treatment of cancer, immune checkpoint inhibitors (ICIs) have demonstrated significantly greater effectiveness compared to conventional cytotoxic or platinum-based chemotherapies. To assess the efficacy of ICI’s in penile squamous cell carcinoma (pSCC) we performed a retrospective observational study. We reviewed electronic medical records of patients with penile squamous cell carcinoma (SCC), diagnosed between January 2020 and February 2023. Nine patients were screened, of whom three were ineligible for chemotherapy and received immunotherapy, cemiplimab, in a first-line setting. Each of the three immunotherapy-treated patients achieved almost a complete response (CR) after only a few cycles of therapy. The first patient had cerebral arteritis during treatment and received a high-dose steroid treatment with resolution of the symptoms of arteritis. After tapering down the steroids dose, the patient continued cemiplimab without further toxicity. The other two patients did not have any toxic side effects of the treatment. To the best of our knowledge, this is the first real world report of near CR with cemiplimab as a first-line treatment in penile SCC. Full article

(This article belongs to the Special Issue Targeted Immunotherapy in Cancer)

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12 pages, 1569 KiB

Open AccessArticle

Analysis of Effect of Intensity of Aerobic Exercise on Cognitive and Motor Functions and Neurotrophic Factor Expression Patterns in an Alzheimer’s Disease Rat Model

by Do-Youn Lee, Sang-Cheol Im, Na-Yeon Kang and Kyoung Kim

J. Pers. Med. 2023, 13(11), 1622; https://doi.org/10.3390/jpm13111622 - 20 Nov 2023

Viewed by 986

Abstract

The effect of aerobic exercise at different intensities on Alzheimer’s disease (AD) still remains unclear. We investigated the effect of aerobic exercise at different intensities on cognitive and motor functions and neurotrophic factor expression. Thirty-two AD-induced rats were randomly assigned to control (CG), [...] Read more.

The effect of aerobic exercise at different intensities on Alzheimer’s disease (AD) still remains unclear. We investigated the effect of aerobic exercise at different intensities on cognitive and motor functions and neurotrophic factor expression. Thirty-two AD-induced rats were randomly assigned to control (CG), low-intensity (Group I), medium-intensity (Group II), and high-intensity (Group III) exercise groups. Each group, except for the CG, performed aerobic exercise for 20 min a day five times a week. After performing aerobic exercise for 4 weeks, their cognitive and motor functions and neurotrophic factor expression patterns were analyzed and compared between the groups. All variables of cognitive and motor functions and neurotrophic factor expression were significantly improved in Groups I, II, and III compared to those in the CG (p < 0.05). Among the neurotrophic factors, brain-derived neurotrophic factor (BDNF) expression was significantly improved in Group III compared to that in Groups I and II (p < 0.05). In the intra-group comparison of cognitive and motor functions, no significant difference was observed in CG, but the aerobic exercise groups showed improvements. Only Group III showed a significant improvement in the time it took to find eight food items accurately (p < 0.05). Aerobic exercise improved the cognitive and motor functions and neurotrophic factor expression patterns in the AD-induced rat model, with high-intensity aerobic exercise having greater effects on cognitive function and BDNF expression. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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12 pages, 1800 KiB

Open AccessArticle

Adipose-Derived Mesenchymal Stem Cell (MSC) Immortalization by Modulation of hTERT and TP53 Expression Levels

by Aigul R. Rakhmatullina, Rimma N. Mingaleeva, Dina U. Gafurbaeva, Olesya N. Glazunova, Aisylu R. Sagdeeva, Emil R. Bulatov, Albert A. Rizvanov and Regina R. Miftakhova

J. Pers. Med. 2023, 13(11), 1621; https://doi.org/10.3390/jpm13111621 - 20 Nov 2023

Cited by 1 | Viewed by 1190

Abstract

Mesenchymal stem cells (MSCs) are pivotal players in tissue repair and hold great promise as cell therapeutic agents for regenerative medicine. Additionally, they play a significant role in the development of various human diseases. Studies on MSC biology have encountered a limiting property [...] Read more.

Mesenchymal stem cells (MSCs) are pivotal players in tissue repair and hold great promise as cell therapeutic agents for regenerative medicine. Additionally, they play a significant role in the development of various human diseases. Studies on MSC biology have encountered a limiting property of these cells, which includes a low number of passages and a decrease in differentiation potential during in vitro culture. Although common methods of immortalization through gene manipulations of cells are well established, the resulting MSCs vary in differentiation potential compared to primary cells and eventually undergo senescence. This study aimed to immortalize primary adipose-derived MSCs by overexpressing human telomerase reverse transcriptase (hTERT) gene combined with a knockdown of TP53. The research demonstrated that immortalized MSCs maintained a stable level of differentiation into osteogenic and chondrogenic lineages during 30 passages, while also exhibiting an increase in cell proliferation rate and differentiation potential towards the adipogenic lineage. Long-term culture of immortalized cells did not alter cell morphology and self-renewal potential. Consequently, a genetically stable line of immortalized adipose-derived MSCs (iMSCs) was established. Full article

(This article belongs to the Section Regenerative Medicine and Therapeutics)

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13 pages, 301 KiB

Open AccessReview

Young Women with Breast Cancer: The Current Role of Precision Oncology

by Amirrtha Srikanthan, Arif Ali Awan, Sharon McGee and Moira Rushton

J. Pers. Med. 2023, 13(11), 1620; https://doi.org/10.3390/jpm13111620 - 20 Nov 2023

Viewed by 1100

Abstract

Young adults aged 40 years and younger with breast cancer represent less than 5% of all breast cancer cases, yet it is the leading cause of death among young women with cancer worldwide. Breast cancer that develops at a young age is more [...] Read more.

Young adults aged 40 years and younger with breast cancer represent less than 5% of all breast cancer cases, yet it is the leading cause of death among young women with cancer worldwide. Breast cancer that develops at a young age is more aggressive and has biological features that carry an increased risk of relapse and death. Young adults are more likely to have a genetic predisposition and key biomarkers, including endocrine receptors, the HER2 receptor, and proliferation biomarkers, that appear different compared to older adults. Despite being more aggressive, management strategies are largely the same irrespective of age. Given the higher rates of genetic predisposition, fast access to genetic counselling and testing is a necessity. In this review, the biological differences in young adult breast cancer and the current role precision medicine holds in the treatment of young adults with breast cancer are explored. Given the relatively high risk of relapse, developing novel genomic tools to refine the treatment options beyond the current standard is critical. Existing predictive genomic tests require careful interpretation with consideration of the patient’s clinical and pathological features in the young patient cohort. Careful evaluation is also required when considering extended endocrine therapy options. Improved characterization of mutations occurring in tumors using next-generation sequencing could identify important driver mutations that arise in young women. Applying the advances of precision medicine equitably to patients in resource-rich and low- and middle-income countries will be critical to impacting the survival of young adults with breast cancer worldwide. Full article

(This article belongs to the Special Issue Precision Medicine for Adolescent and Young Adult (AYA) Oncology)

10 pages, 2634 KiB

Open AccessArticle

Double Lateral Osteotomy: Not Only the Correction of Crooked Noses but a Relevant Aesthetical Refinement in Structural Rhinoplasty

by Roberto Bracaglia, Maria Servillo, Regina Fortunato, Anna Amelia Caretto and Stefano Gentileschi

J. Pers. Med. 2023, 13(11), 1619; https://doi.org/10.3390/jpm13111619 - 19 Nov 2023

Viewed by 1162

Abstract

Background: Osteotomy represents a crucial step in structural rhinoplasty; however, there is not a unique approach accepted. Double lateral osteotomy has proven to be effective in the long-term correction of a deviated nose. In this series, we evaluated its aesthetic value also in [...] Read more.

Background: Osteotomy represents a crucial step in structural rhinoplasty; however, there is not a unique approach accepted. Double lateral osteotomy has proven to be effective in the long-term correction of a deviated nose. In this series, we evaluated its aesthetic value also in non-deviated cases. Materials and Methods: 864 patients who underwent primary structural rhinoplasty from 2012 to 2020 were divided into four groups. Group A and B included patients with a crooked nose treated with asymmetrical double osteotomy and bilateral double osteotomy, respectively. Patients who did not present nasal deviation were divided into group C, including cases treated with bilateral single osteotomy, and group D, including patients who underwent bilateral double osteotomy. Postoperative evaluations were performed by three independent plastic surgeons blinded to the surgical technique. Patient’s satisfaction was assessed through the FACE-Q rhinoplasty module. Results: FACE-Q scores reported a satisfaction rate higher than 30% for every item in all groups; however, group B and group D showed statistically higher satisfaction (p < 0.01). According to the evaluations performed by physicians, group B and group D showed the most satisfactory outcomes (p < 0.01). Conclusions: bilateral double osteotomies represent a significant aesthetic refinement in structural rhinoplasty, not only in crooked noses but also in non-deviated cases, since the reduction in the width of the nose is an aesthetical aspect very appreciated by patients. Full article

(This article belongs to the Special Issue Precision Medicine in Plastic Surgery and Reconstruction)

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10 pages, 656 KiB

Open AccessProtocol

Use of Three-Dimensional Cell Culture Models in Drug Assays for Anti-Cancer Agents in Oral Cancer: Protocol for a Scoping Review

by Everton Freitas de Morais, Leonardo de Oliveira Siquara da Rocha, John Lenon de Souza Santos, Raíza Dias Freitas, Bruno Solano de Freitas Souza, Ricardo D. Coletta and Clarissa A. Gurgel Rocha

J. Pers. Med. 2023, 13(11), 1618; https://doi.org/10.3390/jpm13111618 - 17 Nov 2023

Viewed by 979

Abstract

Advances in the development of pharmacological treatment in oral cancer require tumor models capable of simulating the complex biology of the tumor microenvironment. The spread of three-dimensional models has changed the scenery of in vitro cell culture techniques, contributing to translational oncology. Still, [...] Read more.

Advances in the development of pharmacological treatment in oral cancer require tumor models capable of simulating the complex biology of the tumor microenvironment. The spread of three-dimensional models has changed the scenery of in vitro cell culture techniques, contributing to translational oncology. Still, the full extent of their application in preclinical drug trials is yet to be understood. Therefore, the present scoping review protocol was established to screen the literature on using three-dimensional cell culture models in drug-testing assays in the context of oral cancer. This scoping review will be conducted based on the guidelines established by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Review guidelines (PRISMA-ScR). We will search the PubMed/Medline, Web of Science, Scopus, and Embase databases, as well as the gray literature, including peer-reviewed research articles involving 3D models applied to drug-assessment assays in oral cancer published from 1 March 2013 until 1 March 2023. Data will be charted, and findings will be described according to the predetermined questions of interest. We will present these findings in a narrative manner. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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27 pages, 11524 KiB

Open AccessPerspective

Anterior Open Bite Malocclusion: From Clinical Treatment Strategies towards the Dissection of the Genetic Bases of the Disease Using Human and Collaborative Cross Mice Cohorts

by Iqbal M. Lone, Osayd Zohud, Kareem Midlej, Eva Paddenberg, Sebastian Krohn, Christian Kirschneck, Peter Proff, Nezar Watted and Fuad A. Iraqi

J. Pers. Med. 2023, 13(11), 1617; https://doi.org/10.3390/jpm13111617 - 17 Nov 2023

Cited by 1 | Viewed by 2697

Abstract

Anterior open bite malocclusion is a complex dental condition characterized by a lack of contact or overlap between the upper and lower front teeth. It can lead to difficulties with speech, chewing, and biting. Its etiology is multifactorial, involving a combination of genetic, [...] Read more.

Anterior open bite malocclusion is a complex dental condition characterized by a lack of contact or overlap between the upper and lower front teeth. It can lead to difficulties with speech, chewing, and biting. Its etiology is multifactorial, involving a combination of genetic, environmental, and developmental factors. Genetic studies have identified specific genes and signaling pathways involved in jaw growth, tooth eruption, and dental occlusion that may contribute to open bite development. Understanding the genetic and epigenetic factors contributing to skeletal open bite is crucial for developing effective prevention and treatment strategies. A thorough manual search was undertaken along with searches on PubMed, Scopus, Science Direct, and Web of Science for relevant studies published before June 2022. RCTs (clinical trials) and subsequent observational studies comprised the included studies. Orthodontic treatment is the primary approach for managing open bites, often involving braces, clear aligners, or other orthodontic appliances. In addition to orthodontic interventions, adjuvant therapies such as speech therapy and/or physiotherapy may be necessary. In some cases, surgical interventions may be necessary to correct underlying skeletal issues. Advancements in technology, such as 3D printing and computer-assisted design and manufacturing, have improved treatment precision and efficiency. Genetic research using animal models, such as the Collaborative Cross mouse population, offers insights into the genetic components of open bite and potential therapeutic targets. Identifying the underlying genetic factors and understanding their mechanisms can lead to the development of more precise treatments and preventive strategies for open bite. Here, we propose to perform human research using mouse models to generate debatable results. We anticipate that a genome-wide association study (GWAS) search for significant genes and their modifiers, an epigenetics-wide association study (EWAS), RNA-seq analysis, the integration of GWAS and expression-quantitative trait loci (eQTL), and micro-, small-, and long noncoding RNA analysis in tissues associated with open bite in humans and mice will uncover novel genes and genetic factors influencing this phenotype. Full article

(This article belongs to the Special Issue Transforming Precision Medicine: The Intersection of Digital Health and AI)

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25 pages, 1250 KiB

Open AccessReview

Role of Microenvironmental Components in Head and Neck Squamous Cell Carcinoma

by Enar Jumaniyazova, Anastasiya Lokhonina, Dzhuliia Dzhalilova, Anna Kosyreva and Timur Fatkhudinov

J. Pers. Med. 2023, 13(11), 1616; https://doi.org/10.3390/jpm13111616 - 17 Nov 2023

Viewed by 1528

Abstract

Head and neck squamous cell cancer (HNSCC) is one of the ten most common malignant neoplasms, characterized by an aggressive course, high recurrence rate, poor response to treatment, and low survival rate. This creates the need for a deeper understanding of the mechanisms [...] Read more.

Head and neck squamous cell cancer (HNSCC) is one of the ten most common malignant neoplasms, characterized by an aggressive course, high recurrence rate, poor response to treatment, and low survival rate. This creates the need for a deeper understanding of the mechanisms of the pathogenesis of this cancer. The tumor microenvironment (TME) of HNSCC consists of stromal and immune cells, blood and lymphatic vessels, and extracellular matrix. It is known that HNSCC is characterized by complex relationships between cancer cells and TME components. TME components and their dynamic interactions with cancer cells enhance tumor adaptation to the environment, which provides the highly aggressive potential of HNSCC and resistance to antitumor therapy. Basic research aimed at studying the role of TME components in HNSCC carcinogenesis may serve as a key to the discovery of both new biomarkers–predictors of prognosis and targets for new antitumor drugs. This review article focuses on the role and interaction with cancer of TME components such as newly formed vessels, cancer-associated fibroblasts, and extracellular matrix. Full article

(This article belongs to the Special Issue Biomarkers, Therapeutic Opportunities and Tumor Microenvironment in Solid and Hematological Tumors: Past, Present, and Future)

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15 pages, 3450 KiB

Open AccessArticle

Machine Learning Model as a Useful Tool for Prediction of Thyroid Nodules Histology, Aggressiveness and Treatment-Related Complications

by Valeria Dell’Era, Alan Perotti, Michele Starnini, Massimo Campagnoli, Maria Silvia Rosa, Irene Saino, Paolo Aluffi Valletti and Massimiliano Garzaro

J. Pers. Med. 2023, 13(11), 1615; https://doi.org/10.3390/jpm13111615 - 17 Nov 2023

Cited by 1 | Viewed by 911

Abstract

Thyroid nodules are very common, 5–15% of which are malignant. Despite the low mortality rate of well-differentiated thyroid cancer, some variants may behave aggressively, making nodule differentiation mandatory. Ultrasound and fine-needle aspiration biopsy are simple, safe, cost-effective and accurate diagnostic tools, but have [...] Read more.

Thyroid nodules are very common, 5–15% of which are malignant. Despite the low mortality rate of well-differentiated thyroid cancer, some variants may behave aggressively, making nodule differentiation mandatory. Ultrasound and fine-needle aspiration biopsy are simple, safe, cost-effective and accurate diagnostic tools, but have some potential limits. Recently, machine learning (ML) approaches have been successfully applied to healthcare datasets to predict the outcomes of surgical procedures. The aim of this work is the application of ML to predict tumor histology (HIS), aggressiveness and post-surgical complications in thyroid patients. This retrospective study was conducted at the ENT Division of Eastern Piedmont University, Novara (Italy), and reported data about 1218 patients who underwent surgery between January 2006 and December 2018. For each patient, general information, HIS and outcomes are reported. For each prediction task, we trained ML models on pre-surgery features alone as well as on both pre- and post-surgery data. The ML pipeline included data cleaning, oversampling to deal with unbalanced datasets and exploration of hyper-parameter space for random forest models, testing their stability and ranking feature importance. The main results are (i) the construction of a rich, hand-curated, open dataset including pre- and post-surgery features (ii) the development of accurate yet explainable ML models. Results highlight pre-screening as the most important feature to predict HIS and aggressiveness, and that, in our population, having an out-of-range (Low) fT3 dosage at pre-operative examination is strongly associated with a higher aggressiveness of the disease. Our work shows how ML models can find patterns in thyroid patient data and could support clinicians to refine diagnostic tools and improve their accuracy. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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15 pages, 1327 KiB

Open AccessArticle

PEAL Score to Predict the Mortality Risk of Cardiogenic Shock in the Emergency Department: An Observational Study

by Jen-Wen Ma, Sung-Yuan Hu, Ming-Shun Hsieh, Yi-Chen Lee, Shih-Che Huang, Kuan-Ju Chen, Yan-Zin Chang and Yi-Chun Tsai

J. Pers. Med. 2023, 13(11), 1614; https://doi.org/10.3390/jpm13111614 - 16 Nov 2023

Viewed by 948

Abstract

Background: The in-hospital mortality of cardiogenic shock (CS) remains high (28% to 45%). As a result, several studies developed prediction models to assess the mortality risk and provide guidance on treatment, including CardShock and IABP-SHOCK II scores, which performed modestly in external validation [...] Read more.

Background: The in-hospital mortality of cardiogenic shock (CS) remains high (28% to 45%). As a result, several studies developed prediction models to assess the mortality risk and provide guidance on treatment, including CardShock and IABP-SHOCK II scores, which performed modestly in external validation studies, reflecting the heterogeneity of the CS populations. Few articles established predictive scores of CS based on Asian people with a higher burden of comorbidities than Caucasians. We aimed to describe the clinical characteristics of a contemporary Asian population with CS, identify risk factors, and develop a predictive scoring model. Methods: A retrospective observational study was conducted between 2014 and 2019 to collect the patients who presented with all-cause CS in the emergency department of a single medical center in Taiwan. We divided patients into subgroups of CS related to acute myocardial infarction (AMI-CS) or heart failure (HF-CS). The outcome was all-cause 30-day mortality. We built the prediction model based on the hazard ratio of significant variables, and the cutoff point of each predictor was determined using the Youden index. We also assessed the discrimination ability of the risk score using the area under a receiver operating characteristic curve. Results: We enrolled 225 patients with CS. One hundred and seven patients (47.6%) were due to AMI-CS, and ninety-eight patients among them received reperfusion therapy. Forty-nine patients (21.8%) eventually died within 30 days. Fifty-three patients (23.55%) presented with platelet counts < 155 × 10³/μL, which were negatively associated with a 30-day mortality of CS in the restrictive cubic spline plot, even within the normal range of platelet counts. We identified four predictors: platelet counts < 200 × 10³/μL (HR 2.574, 95% CI 1.379–4.805, p = 0.003), left ventricular ejection fraction (LVEF) < 40% (HR 2.613, 95% CI 1.020–6.692, p = 0.045), age > 71 years (HR 2.452, 95% CI 1.327–4.531, p = 0.004), and lactate > 2.7 mmol/L (HR 1.967, 95% CI 1.069–3.620, p = 0.030). The risk score ended with a maximum of 5 points and showed an AUC (95% CI) of 0.774 (0.705–0.843) for all patients, 0.781 (0.678–0.883), and 0.759 (0.662–0.855) for AMI-CS and HF-CS sub-groups, respectively, all p < 0.001. Conclusions: Based on four parameters, platelet counts, LVEF, age, and lactate (PEAL), this model showed a good predictive performance for all-cause mortality at 30 days in the all patients, AMI-CS, and HF-CS subgroups. The restrictive cubic spline plot showed a significantly negative correlation between initial platelet counts and 30-day mortality risk in the AMI-CS and HF-CS subgroups. Full article

(This article belongs to the Special Issue Emergency Medicine: Clinical Advances and Challenges in Diagnosis and Treatment)

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11 pages, 532 KiB

Open AccessArticle

Primary Care Patient Interest in Multi-Cancer Early Detection for Cancer Screening

by Ronald E. Myers, Mie H. Hallman, Ayako Shimada, Melissa DiCarlo, Kaitlyn Davis, William T. Leach, Hattie Jackson, Amanda Indictor and Christopher V. Chambers

J. Pers. Med. 2023, 13(11), 1613; https://doi.org/10.3390/jpm13111613 - 16 Nov 2023

Viewed by 892

Abstract

Multi-cancer early detection (MCED) tests are being developed, but little is known about patient receptivity to their use for cancer screening. The current study assessed patient interest in such testing. Our team conducted a prospective, observational study among primary care patients in a [...] Read more.

Multi-cancer early detection (MCED) tests are being developed, but little is known about patient receptivity to their use for cancer screening. The current study assessed patient interest in such testing. Our team conducted a prospective, observational study among primary care patients in a large, urban health system. They were asked to complete a telephone survey that briefly described a new blood test in development to identify multiple types of cancer, but was not currently recommended or covered by insurance. The survey included items to assess respondent background characteristics, perceptions about MCED testing, and interest in having such an MCED test. We also used multivariable analyses to identify factors associated with patient interest in test use. In 2023, we surveyed 159 (32%) of 500 identified patients. Among respondents, 125 (79%) reported a high level of interest in having an MCED test. Interest was not associated with personal background characteristics, but was positively associated with the following expectations: testing would be recommended for cancer screening, be convenient, and be effective in finding early-stage disease (OR = 11.70, 95% CI: 4.02, 34.04, p < 0.001). Research is needed to assess patient interest and actual uptake when detailed information on testing is presented in routine care. Full article

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13 pages, 8723 KiB

Open AccessSystematic Review

Periorbital Facial Necrotizing Fasciitis in Adults: A Rare Severe Disease with Complex Diagnosis and Surgical Treatment—A New Case Report and Systematic Review

by Mihaela Pertea, Madalina-Cristina Fotea, Stefana Luca, Dan Cristian Moraru, Alexandru Filip, Doinita Olinici-Temelie, Sorinel Lunca, Adrian Claudiu Carp, Oxana-Madalina Grosu, Alexandru Amarandei and Bogdan Veliceasa

J. Pers. Med. 2023, 13(11), 1612; https://doi.org/10.3390/jpm13111612 - 16 Nov 2023

Viewed by 1303

Abstract

(1) Background: Necrotizing fasciitis (NF) is a severe and aggressive pathology with a rapid progression and high mortality risk. Periocular NF is a rare condition associated with a lower mortality risk but significantly higher disabling sequelae. (2) Methods: We present the case of [...] Read more.

(1) Background: Necrotizing fasciitis (NF) is a severe and aggressive pathology with a rapid progression and high mortality risk. Periocular NF is a rare condition associated with a lower mortality risk but significantly higher disabling sequelae. (2) Methods: We present the case of a 67-year-old homeless patient, a victim of assault, with multiple untreated comorbidities (diabetes mellitus, cardiac conditions, and schizophrenia) and a delayed diagnosis of periocular necrotizing fasciitis. The condition showed a cyclical evolution influenced by the existing comorbidities, and the patient underwent both surgical and medical treatment with a multidisciplinary team. Additionally, we report a systematic review of cases from the literature. (3) Results: The patient’s survival outcomes were favorable; however, the sequelae were disabling, not only concerning aesthetic aspects but also due to the loss of the affected eye globe. The systematic review revealed the rarity of such cases and the peculiarities of the presented case compared to those reported in the literature up to this point. (4) Conclusions: Understanding the signs, symptoms, and predisposing factors, as well as the potential rare localizations of NF, including the periocular region, can lead to the early diagnosis and treatment with good functional and aesthetic outcomes, minimizing significant disabilities. Full article

(This article belongs to the Section Mechanisms of Diseases)

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12 pages, 916 KiB

Open AccessArticle

Clinical Characteristics of Spinal versus General Anaesthesia in Older Patients Undergoing Hip Fracture Repair Surgery in Jordan: A Multicentre Study

by Lou’i Al-Husinat, Sarah Al Sharie, Mohammad Araydah, Zaid Al Modanat, Mohammed I. A. Ismail, Hadeel B. Heilat, Mohd Said Dawod, Khaled Ahmad Sawaftah, Silvia De Rosa and Denise Battaglini

J. Pers. Med. 2023, 13(11), 1611; https://doi.org/10.3390/jpm13111611 - 16 Nov 2023

Cited by 1 | Viewed by 970

Abstract

Background: The primary aim of this study was to examine the clinical characteristics and outcomes of older patients who underwent hip fracture repair surgery. The secondary aims were to assess the predictors of the choice of spinal or general anaesthesia and to explore [...] Read more.

Background: The primary aim of this study was to examine the clinical characteristics and outcomes of older patients who underwent hip fracture repair surgery. The secondary aims were to assess the predictors of the choice of spinal or general anaesthesia and to explore the risk factors for all-cause mortality. Methods: This three-tertiary centres study was conducted at a tertiary care centre in Jordan. Clinical data include previous fracture history; medication details; comorbidities; surgical approach; and postoperative pain management. Results: Overall, 1084 patients who underwent hip fracture repair were included in this study. The mean age of patients was 78 years, and 55.2% were women. Twenty-four were treated with bisphosphonates before the fracture, whereas 30 were in steroid therapy. Overall, 61.8% of patients underwent spinal anaesthesia, whereas 38.2% underwent general anaesthesia. Spinal anaesthesia group had a lower prevalence of cardiovascular accidents (16.3% vs. 22.3%, p = 0.014) and Alzheimer’s (3.4% vs. 1.4%, p = 0.049) than the general anaesthesia group. In the spinal anaesthesia group, postoperative opioid administration (p = 0.025) and postoperative blood transfusion (p = 0.011) occurred more frequently than general anaesthesia group. In hospital, 30-day and all-cause mortality were comparable between both groups. Diabetes mellitus (HR = 2.6; 95%CI = 1.5–4.4; p = 0.001); cemented hip hemiarthroplasty (HR = 2.4; 95%CI = 1.1–5.1; p = 0.025); deep venous thrombosis/pulmonary embolism (HR = 5.0; 95%CI = 1.2–12.9; p = 0.001); and readmission within 1 month from surgery (HR = 3.6; 95%CI = 2.0–6.3; p < 0.001) were all significant predictors of mortality. Conclusions: This study provides insights into the outcomes and factors associated with different anaesthesia types in hip fracture repair surgery. The anaesthesia type does not affect all-cause mortality in patients undergoing hip fracture repair. Full article

(This article belongs to the Special Issue State of the Art of Anesthesia and Perioperative Medicine)

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21 pages, 1369 KiB

Open AccessSystematic Review

Quality of Life and Audiological Benefits in Pediatric Cochlear Implant Users in Romania: Systematic Review and Cohort Study

by Gina Gundacker, Delia Emilia Trales and Horatiu Eugen Stefanescu

J. Pers. Med. 2023, 13(11), 1610; https://doi.org/10.3390/jpm13111610 - 15 Nov 2023

Viewed by 837

Abstract

Profound sensorineural hearing loss (SNHL) can be successfully treated with a cochlear implant (CI), and treatment is usually accompanied by increased quality of life (QoL). Therefore, the aim of this study was to investigate generic and health-related QoL, as well as the level [...] Read more.

Profound sensorineural hearing loss (SNHL) can be successfully treated with a cochlear implant (CI), and treatment is usually accompanied by increased quality of life (QoL). Therefore, the aim of this study was to investigate generic and health-related QoL, as well as the level of audiological outcomes, of CI users, in addition to whether Qol can be restored to the extent of those with normal hearing. Furthermore, different implantation timepoints were compared (early vs. late), and a possible correlation between health and generic QoL questionnaires was investigated. The outcomes from 93 pediatric CI users from Romania were analyzed in the study. Two QoL questionnaires (SSQ12, AQoL-6D), as well as the HSM sentence test and Soundfield measurements, were assessed. The outcomes revealed that the CI users were able to achieve the same QoL as their age- and-gender matched peers with normal hearing, and hearing was restored with good speech comprehension. No significant difference between early- and late-implanted children was detected, although a tendency of a better Word Recognition Score (+10%) in the early-implanted group was discovered. A moderate and significant correlation between the generic and health-related Qol questionnaire was observed. Audiological examinations are still the standard practice by which to measure the benefit of any hearing intervention; nonetheless, generic and health-related QoL should be assessed in order to provide a full picture of a successful and patient-satisfactory cochlear implant procedure. Full article

(This article belongs to the Special Issue Personalized Medicine in Otolaryngology: Special Topic Otology)

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10 pages, 1403 KiB

Open AccessCase Report

Aicardi–Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation

by Marta Świerczyńska, Agnieszka Tronina and Erita Filipek

J. Pers. Med. 2023, 13(11), 1609; https://doi.org/10.3390/jpm13111609 - 15 Nov 2023

Viewed by 1029

Abstract

Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently. Case presentation: We [...] Read more.

Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently. Case presentation: We present a case of a neonate with hypotrophy, microcephaly, frostbite-like skin lesions, thrombocytopenia, elevated liver enzymes and hepatosplenomegaly. Magnetic resonance imaging (MRI) of the brain showed multiple foci of calcification, white matter changes, cerebral atrophy, and atrophic dilatation of the ventricular system. The inflammatory parameters were not elevated, and the infectious etiology was excluded. Instead, elevated levels of IFN-α in the serum were detected. Based on the related clinical symptoms, imaging and test findings, the diagnosis of AGS was suspected. Genetic testing revealed two pathogenic mutations, c.490C>T and c.222del (novel mutation), in the three prime repair exonuclease 1 (TREX1) gene, confirming AGS type 1 (AGS1). An ophthalmologic examination of the child at 10 months of age revealed an impaired pupillary response to light, a corneal haze with Haab lines in the right eye (RE), pale optic nerve discs and neuropathy in both eyes (OU). The intraocular pressure (IOP) was 51 mmHg in the RE and 49 in the left eye (LE). The flash visual evoked potential (FVEP) showed prolonged P2 latencies of up to 125% in the LE and reduced amplitudes of up to approximately 10% OU. This girl was diagnosed with congenital glaucoma, and it was managed with a trabeculectomy with a basal iridectomy of OU, resulting in a reduction and stabilization in the IOP to 12 mmHg in the RE and 10 mmHg in the LE without any hypotensive eyedrops. Conclusions: We present the clinical characteristics, electrophysiological and imaging findings, as well as the genetic test results of a patient with AGS1. Our case contributes to the extended ophthalmic involvement of the pathogenic c.490C>T and c.222del mutations in TREX1. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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12 pages, 2232 KiB

Open AccessArticle

Visual Impairment and Low Vision Aids—A Comparison between Children and Adults

by Madeleine A. Perrault, Gabriele Lauer, Sabine Voss, Berthold Seitz and Barbara Käsmann-Kellner

J. Pers. Med. 2023, 13(11), 1608; https://doi.org/10.3390/jpm13111608 - 14 Nov 2023

Viewed by 1144

Abstract

(1) Background: This study aims to highlight differences in the etiology and fitting of low vision aids in visually impaired children and adolescents in comparison to adults. (2) Methods: A retrospective data collection from visually impaired patients presenting to obtain assistive devices from [...] Read more.

(1) Background: This study aims to highlight differences in the etiology and fitting of low vision aids in visually impaired children and adolescents in comparison to adults. (2) Methods: A retrospective data collection from visually impaired patients presenting to obtain assistive devices from 1 January 2016 to 30 April 2020 was conducted. A total of 502 patients were included. Inclusion criteria were a minimum age of 4 years and the chart notation of a best-corrected distance visual acuity in the patient record prior to the fitting of magnifying visual aids. (3) Results: Of the 502 patients, 147 (29.3%) were children under the age of 18 years. The most common cause of visual impairment in children was albinism, and in adults, it was age-related macular degeneration (AMD). Children showed better distance visual acuity, with a median of 0.88 logMAR (Logarithm of the Minimum Angle of Resolution) compared to 1.0 in adults (p = 0.001). Near visual acuity was also significantly better, with a median of 0.54 logMAR in children compared to 0.9 in adults (p < 0.001). Near and distance visual acuity were significantly improved by fitting magnifying visual aids (p < 0.001). After fitting, near visual acuity averaged 0.3 logMAR, and distance visual acuity, 0.7. The most commonly prescribed aids were optical vision aids, which 68.5% of the patients received; 43.8% received electronic aids. In children, optical aids were more frequently prescribed, and in adults, electronic and acoustic aids (p < 0.001). (4) Conclusion: Visually impaired patients can regain the ability to read and improve distance vision by using individually adapted and tested magnifying vision aids, often with optical aids alone. Differences between children and adults could be discovered in the etiology and severity of visual impairment, as well as in the provision type of low vision aids. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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15 pages, 553 KiB

Open AccessReview

Exploring the Role of Biomarkers Associated with Alveolar Damage and Dysfunction in Idiopathic Pulmonary Fibrosis—A Systematic Review

by Alexandra-Simona Zamfir, Mihai Lucian Zabara, Raluca Ioana Arcana, Tudor Andrei Cernomaz, Andreea Zabara-Antal, Marius Traian Dragoș Marcu, Antigona Trofor, Carmen Lăcrămioara Zamfir and Radu Crișan-Dabija

J. Pers. Med. 2023, 13(11), 1607; https://doi.org/10.3390/jpm13111607 - 14 Nov 2023

Viewed by 1042

Abstract

Background: Idiopathic pulmonary fibrosis (IPF) is one of the most aggressive forms of interstitial lung diseases (ILDs), marked by an ongoing, chronic fibrotic process within the lung tissue. IPF leads to an irreversible deterioration of lung function, ultimately resulting in an increased mortality [...] Read more.

Background: Idiopathic pulmonary fibrosis (IPF) is one of the most aggressive forms of interstitial lung diseases (ILDs), marked by an ongoing, chronic fibrotic process within the lung tissue. IPF leads to an irreversible deterioration of lung function, ultimately resulting in an increased mortality rate. Therefore, the focus has shifted towards the biomarkers that might contribute to the early diagnosis, risk assessment, prognosis, and tracking of the treatment progress, including those associated with epithelial injury. Methods: We conducted this review through a systematic search of the relevant literature using established databases such as PubMed, Scopus, and Web of Science. Selected articles were assessed, with data extracted and synthesized to provide an overview of the current understanding of the existing biomarkers for IPF. Results: Signs of epithelial cell damage hold promise as relevant biomarkers for IPF, consequently offering valuable support in its clinical care. Their global and standardized utilization remains limited due to a lack of comprehensive information of their implications in IPF. Conclusions: Recognizing the aggressive nature of IPF among interstitial lung diseases and its profound impact on lung function and mortality, the exploration of biomarkers becomes pivotal for early diagnosis, risk assessment, prognostic evaluation, and therapy monitoring. Full article

(This article belongs to the Section Epidemiology)

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10 pages, 538 KiB

Open AccessArticle

Dysautonomia, but Not Cardiac Dysfunction, Is Common in a Cohort of Individuals with Long COVID

by Laura Tabacof, Jamie Wood, Erica Breyman, Jenna Tosto-Mancuso, Amanda Kelly, Kaitlyn Wilkey, Chi Zhang, David Putrino and Amy Kontorovich

J. Pers. Med. 2023, 13(11), 1606; https://doi.org/10.3390/jpm13111606 - 14 Nov 2023

Viewed by 2190

Abstract

Despite the prevalence of dysautonomia in people with Long COVID, it is currently unknown whether Long COVID dysautonomia is routinely accompanied by structural or functional cardiac alterations. In this retrospective observational study, the presence of echocardiographic abnormalities was assessed. Left ventricular (LV) chamber [...] Read more.

Despite the prevalence of dysautonomia in people with Long COVID, it is currently unknown whether Long COVID dysautonomia is routinely accompanied by structural or functional cardiac alterations. In this retrospective observational study, the presence of echocardiographic abnormalities was assessed. Left ventricular (LV) chamber sizes were correlated to diagnostic categories and symptoms via standardized patient-reported outcome (PRO) questionnaires. A total of 203 individuals with Long COVID without pre-existing cardiac disease and with available echocardiograms were included (mean age, 45 years; 67% female). Overall, symptoms and PRO scores for fatigue, breathlessness, quality of life, disability, anxiety and depression were not different between those classified with post-COVID dysautonomia (PCD, 22%) and those unclassified (78%). An LV internal diameter at an end-diastole z score < −2 was observed in 33 (16.5%) individuals, and stroke volume (SV) was lower in the PCD vs. unclassified subgroup (51.6 vs. 59.2 mL, 95% C.I. 47.1–56.1 vs. 56.2–62.3). LV end-diastolic volume (mean diff. (95% CI) −13 [−1–−26] mL, p = 0.04) and SV (−10 [−1–−20] mL, p = 0.03) were smaller in those individuals reporting a reduction in physical activity post-COVID-19 infection, and smaller LVMI was weakly correlated with worse fatigue (r = 0.23, p = 0.02). The majority of individuals with Long COVID report shared symptoms and did not demonstrate cardiac dysfunction on echocardiography. Full article

(This article belongs to the Special Issue New Challenges and Perspectives in Neurology and Autonomic Disorders)

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11 pages, 1440 KiB

Open AccessArticle

Analysis of New Colposcopy Techniques in the Diagnosis and Evolution of SIL/CIN: Comparison of Colposcopy with the DSI System (COLPO-DSI Study)

by Virginia González González, María del Mar Ramírez Mena, Javier Calvo Torres, Miguel Ángel Herráiz Martínez, Irene Serrano García and Pluvio Coronado

J. Pers. Med. 2023, 13(11), 1605; https://doi.org/10.3390/jpm13111605 - 14 Nov 2023

Viewed by 986

Abstract

Compared with conventional colposcopy, colposcopy assisted by DSI-map increases the detection of HSIL/CIN2+ and might help to identify the lesions more likely to regress. Introduction: Comparison of the performance of colposcopy assisted by dynamic spectral imaging (C-DSI) with that of conventional colposcopy (CC) [...] Read more.

Compared with conventional colposcopy, colposcopy assisted by DSI-map increases the detection of HSIL/CIN2+ and might help to identify the lesions more likely to regress. Introduction: Comparison of the performance of colposcopy assisted by dynamic spectral imaging (C-DSI) with that of conventional colposcopy (CC) in the diagnosis of cervical intraepithelial neoplasia (HSIL/CIN2 or CIN3). Materials and Methods: A total of 1655 women were referred for colposcopy between 2012 and 2020 and included in the study. Of that total, 973 were examined by the same colposcopist with C-DSI, and 682 with CC. Comparisons between CC and C-DSI were made by using the histological diagnosis performed with a punch biopsy or loop electrosurgical excision procedure (LEEP) as the gold standard. A follow-up study was conducted until 2021 to detect progression to HSIL/CIN2 at 6, 12 and 24 months after first examination. Results: C-DSI provided higher sensitivity for the diagnosis of HSIL/CIN2 or CIN 3 than CC (sensitivity of 76.8% and 86.6% vs. 54.2% and 72.2%, respectively). In negative or ASCUS/LSIL Pap smear results, C-DSI showed higher sensitivity than CC (sensitivity of 66.7% and 61.5% vs. 21.4% and 33.3%, respectively). In contrast, these differences were not observed in high-grade Pap smears. The sensitivity of C-DSI in cases with HPV16/18 infection was stronger than that of CC (73.53% vs. 56.67%). The sensitivity of C-DSI to detect the progression to HSIL/CIN2+ during follow-up was 30, 17.6 and 35.7% at 6, 12 and 24 months, respectively. Conclusions: The present study shows that C-DSI in women referred for colposcopy increases the HSIL/CIN 2–3 detection rate compared to conventional colposcopy. Nevertheless, C-DSI does not seem to be an important tool to predict the evolution of the lesions during follow-up. Full article

(This article belongs to the Section Epidemiology)

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14 pages, 308 KiB

Open AccessArticle

Investigating Chronotype and Sleep Quality in Psoriatic Patients: Results from an Observational, Web-Based Survey

by Alessandro Borghi, Alfredo De Giorgi, Alberto Monti, Rosaria Cappadona, Roberto Manfredini and Monica Corazza

J. Pers. Med. 2023, 13(11), 1604; https://doi.org/10.3390/jpm13111604 - 13 Nov 2023

Viewed by 802

Abstract

Background: Psoriasis is an inflammatory disease for which the implications and repercussions go far beyond the skin. Psoriasis patients suffer not only due to its skin manifestations and related symptoms but also because of comorbidities and a huge emotional impact. Objective: The objective [...] Read more.

Background: Psoriasis is an inflammatory disease for which the implications and repercussions go far beyond the skin. Psoriasis patients suffer not only due to its skin manifestations and related symptoms but also because of comorbidities and a huge emotional impact. Objective: The objective of this study was to investigate chronotype and sleep quality in a group of Italian psoriatic patients. Materials and Methods: An observational, cross-sectional, web-based study was set up by the Dermatology and Clinical Medicine Sections of the Department of Medical Sciences, University of Ferrara, Italy. The web questionnaire was sent to an email list of an Italian association of psoriatic patients with the aim of recording their main demographic, social, historical, and clinical data. The survey included two questionnaires: the Morningness–Eveningness Questionnaire (MEQ) and the Pittsburg Sleep Quality Index (PSQI). Results: Two hundred and forty-three psoriatic patients (mean age 52.9 ± 12.8 yrs., 32.5% males and 67.5% females) filled out the questionnaire. A good 63.8% of them were affected with psoriasis for more than 10 years, 25.9% reported having a diffuse psoriasis, and 66.7% were on treatment at the time they completed the questionnaire. With reference to chronotype, the mean MEQ score was 55.2 ± 10.7; furthermore, 44% of the patients were “morning-oriented types”, M-types, or “larks”, 44.5% were “intermediate-types” or I-types, and 11.5% were “evening-oriented types”, E-types, or “owls”. No correlations were found between chronotype and psoriasis extension. Based on the PSQI results, 72.8% of the study population was judged to have a low sleep quality. Sleep disturbance was significantly related to female sex, living alone, and the presence of comorbidities. Conclusions: Sleep disturbance is very common in psoriatic patients, especially in those with comorbidities, in females, and in patients who live alone. The chronotype in psoriatic patients does not appear different when compared to the general population, nor does it seem to have any link with psoriasis severity. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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Open AccessArticle

Efficacy of Low-Level Laser Therapy for Oral Mucositis in Hematologic Patients Undergoing Transplantation: A Single-Arm Prospective Study

by Hiromi Nishi, Susumu Horikoshi, Kouji Ohta, Tetsumi Yoshida, Noriyasu Fukushima, Kyoko Oshita, Syuichi Munenaga, Taro Edahiro, Hiroshi Ureshino, Hideo Shigeishi, Yukio Yoshioka, Masaru Konishi, Noriaki Ide, Yuma Ogawa, Rikou Marukawa, Tomoaki Shintani, Natumi Ino, Mikihito Kajiya, Naoya Kakimoto, Hiroki Ohge, Tatsuo Ichinohe and Hiroyuki Kawaguchi Show full author list Hide full author list

J. Pers. Med. 2023, 13(11), 1603; https://doi.org/10.3390/jpm13111603 - 13 Nov 2023

Viewed by 1260

Abstract

Oral mucositis significantly affects the quality of life in hematologic cancer patients undergoing hematopoietic stem cell transplantation. Despite global evidence supporting the efficacy of low-level laser therapy (LLLT) for mucositis prevention, its clinical adoption in Japan is limited. This study aimed to fill [...] Read more.

Oral mucositis significantly affects the quality of life in hematologic cancer patients undergoing hematopoietic stem cell transplantation. Despite global evidence supporting the efficacy of low-level laser therapy (LLLT) for mucositis prevention, its clinical adoption in Japan is limited. This study aimed to fill this gap by evaluating the safety and efficacy of LLLT in a Japanese patient population. In a single-group, non-blinded, exploratory trial, we compared 21 LLLT-treated patients against a historical control of 96 patients. The primary endpoint was the incidence of Grade ≥ 2 mucositis, based on NCI-CTCAE ver. 4.0. The LLLT group showed a significantly lower incidence of Grade ≥ 2 mucositis (23.8%) compared to the control group (64.6%) (p = 0.0006). Furthermore, Grade ≥ 2 mucositis correlated with increased oral dryness and longer hospital stays. Our study confirms the efficacy of LLLT in reducing the onset of severe oral mucositis among Japanese hematologic cancer patients, advocating for its clinical introduction as a preventive measure in Japan. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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23 pages, 5906 KiB

Open AccessReview

Metabolic Disorders, the Microbiome as an Endocrine Organ, and Their Relations with Obesity: A Literature Review

by Sorina Ispas, Liliana Ana Tuta, Mihaela Botnarciuc, Viorel Ispas, Sorana Staicovici, Sevigean Ali, Andreea Nelson-Twakor, Cristina Cojocaru, Alexandra Herlo and Adina Petcu

J. Pers. Med. 2023, 13(11), 1602; https://doi.org/10.3390/jpm13111602 - 13 Nov 2023

Viewed by 1330

Abstract

The etiology of metabolic disorders, such as obesity, has been predominantly associated with the gut microbiota, which is acknowledged as an endocrine organ that plays a crucial role in modulating energy homeostasis and host immune responses. The presence of dysbiosis has the potential [...] Read more.

The etiology of metabolic disorders, such as obesity, has been predominantly associated with the gut microbiota, which is acknowledged as an endocrine organ that plays a crucial role in modulating energy homeostasis and host immune responses. The presence of dysbiosis has the potential to impact the functioning of the intestinal barrier and the gut-associated lymphoid tissues by allowing the transit of bacterial structural components, such as lipopolysaccharides. This, in turn, may trigger inflammatory pathways and potentially lead to the onset of insulin resistance. Moreover, intestinal dysbiosis has the potential to modify the production of gastrointestinal peptides that are linked to the feeling of fullness, hence potentially leading to an increase in food consumption. In this literature review, we discuss current developments, such as the impact of the microbiota on lipid metabolism as well as the processes by which its changes led to the development of metabolic disorders. Several methods have been developed that could be used to modify the gut microbiota and undo metabolic abnormalities. Methods: After researching different databases, we examined the PubMed collection of articles and conducted a literature review. Results: After applying our exclusion and inclusion criteria, the initial search yielded 1345 articles. We further used various filters to narrow down our titles analysis and, to be specific to our study, selected the final ten studies, the results of which are included in the Results section. Conclusions: Through gut barrier integrity, insulin resistance, and other influencing factors, the gut microbiota impacts the host’s metabolism and obesity. Although the area of the gut microbiota and its relationship to obesity is still in its initial stages of research, it offers great promise for developing new therapeutic targets that may help prevent and cure obesity by restoring the gut microbiota to a healthy condition. Full article

(This article belongs to the Topic Metabolic Syndrome, Biomarkers and Lifestyles)

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13 pages, 3593 KiB

Open AccessArticle

Pretreatment Tumor Volume and Tumor Sphericity as Prognostic Factors in Patients with Oral Cavity Squamous Cell Carcinoma: A Prospective Clinical Study in 95 Patients

by Elisabetta Lucchi, Laura Cercenelli, Vincenzo Maiolo, Barbara Bortolani, Emanuela Marcelli and Achille Tarsitano

J. Pers. Med. 2023, 13(11), 1601; https://doi.org/10.3390/jpm13111601 - 13 Nov 2023

Viewed by 755

Abstract

The prognostic impact of tumor volume and tumor sphericity was analyzed in 95 patients affected by oral cancer. The pre-operative computed tomography (CT) scans were used to segment the tumor mass with threshold tools, obtaining the corresponding volume and sphericity. Events of recurrence [...] Read more.

The prognostic impact of tumor volume and tumor sphericity was analyzed in 95 patients affected by oral cancer. The pre-operative computed tomography (CT) scans were used to segment the tumor mass with threshold tools, obtaining the corresponding volume and sphericity. Events of recurrence and tumor-related death were detected for each patient. The mean follow-up time was 31 months. A p-value of 0.05 was adopted. Mean tumor volume resulted higher in patients with recurrence or tumor-related death at the Student’s t-test (respectively, 19.8 cm³ vs. 11.1 cm³, p = 0.03; 23.3 cm³ vs. 11.7 cm³, p = 0.02). Mean tumor sphericity was higher in disease-free patients (0.65 vs. 0.59, p = 0.04). Recurrence-free survival and disease-specific survival were greater for patients with a tumor volume inferior to the cut-off values of 21.1 cm³ (72 vs. 21 months, p < 0.01) and 22.4 cm³ (85 vs. 32 months, p < 0.01). Recurrence-free survival and disease-specific survival were higher for patients with a tumor sphericity superior to the cut-off value of 0.57 (respectively, 49 vs. 33 months, p < 0.01; 56 vs. 51 months, p = 0.01). To conclude, tumor volume and sphericity, three-dimensional parameters, could add useful information for better stratification of prognosis in oral cancer. Full article

(This article belongs to the Special Issue Multidisciplinary Therapeutic Strategies in Head and Neck Surgery)

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16 pages, 685 KiB

Open AccessReview

The Role of Small Airway Disease in Pulmonary Fibrotic Diseases

by Georgios I. Barkas, Zoe Daniil and Ourania S. Kotsiou

J. Pers. Med. 2023, 13(11), 1600; https://doi.org/10.3390/jpm13111600 - 13 Nov 2023

Viewed by 2120

Abstract

Small airway disease (SAD) is a pathological condition that affects the bronchioles and non-cartilaginous airways 2 mm or less in diameter. These airways play a crucial role in respiratory function and are often implicated in various pulmonary disorders. Pulmonary fibrotic diseases are characterized [...] Read more.

Small airway disease (SAD) is a pathological condition that affects the bronchioles and non-cartilaginous airways 2 mm or less in diameter. These airways play a crucial role in respiratory function and are often implicated in various pulmonary disorders. Pulmonary fibrotic diseases are characterized by the thickening and scarring of lung tissue, leading to progressive respiratory failure. We aimed to present the link between SAD and fibrotic lung conditions. The evidence suggests that SAD may act as a precursor or exacerbating factor in the progression of fibrotic diseases. Patients with fibrotic conditions often exhibit signs of small airway dysfunction, which can contribute to worsening respiratory symptoms and decreased lung function. Moreover, individuals with advanced SAD are at a heightened risk of developing fibrotic changes in the lung. The interplay between inflammation, environmental factors, and genetic predisposition further complicates this association. The early detection and management of SAD can potentially mitigate the progression of fibrotic diseases, highlighting the need for comprehensive clinical evaluation and research. This review emphasizes the need to understand the evolving connection between SAD and pulmonary fibrosis, urging further detailed research to clarify the causes and potential treatment between the two entities. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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16 pages, 5938 KiB

Open AccessArticle

Molecular and Cellular Mechanism of Action of Chrysotile Asbestos in MRC5 Cell Line

by Assiya Kussainova, Olga Bulgakova, Akmaral Aripova, Milana Ibragimova, Alessandra Pulliero, Dinara Begimbetova, Rakhmetkazhi Bersimbaev and Alberto Izzotti

J. Pers. Med. 2023, 13(11), 1599; https://doi.org/10.3390/jpm13111599 - 12 Nov 2023

Viewed by 1066

Abstract

Asbestos is a known carcinogen; however, the influence of chrysotile asbestos on the development of tumor-related diseases remains a subject of intense debate within the scientific community. To analyze the effect of asbestos, we conducted a study using the MRC5 cell line. We [...] Read more.

Asbestos is a known carcinogen; however, the influence of chrysotile asbestos on the development of tumor-related diseases remains a subject of intense debate within the scientific community. To analyze the effect of asbestos, we conducted a study using the MRC5 cell line. We were able to demonstrate that chrysotile asbestos stimulated the production of reactive oxygen species (ROS), leading to cell death and DNA damage in the MRC5 cell line, using various techniques such as ROS measurement, comet assay, MTT assay, and qPCR. In addition, we found that chrysotile asbestos treatment significantly increased extracellular mitochondrial DNA levels in the culture medium and induced significant changes in the expression profile of several miRNAs, which was the first of its kind. Thus, our research highlights the importance of studying the effects of chrysotile asbestos on human health and reveals multiple adverse effects of chrysotile asbestos. Full article

(This article belongs to the Section Disease Biomarker)

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7 pages, 1273 KiB

Open AccessCase Report

Lymphangioleiomyomatosis with Tuberous Sclerosis Complex—A Case Study

by Aleksandra Marciniak, Jolanta Nawrocka-Rutkowska, Agnieszka Brodowska, Andrzej Starczewski and Iwona Szydłowska

J. Pers. Med. 2023, 13(11), 1598; https://doi.org/10.3390/jpm13111598 - 12 Nov 2023

Viewed by 701

Abstract

Lymphangioleiomyomatosis (LAM) is characterized by lung cysts that cause lung deterioration, changes in the lymphatic system, and tumors in the kidneys. It mainly affects women of reproductive age and is a progressive disease. LAM can occur as an isolated disease or coexist with [...] Read more.

Lymphangioleiomyomatosis (LAM) is characterized by lung cysts that cause lung deterioration, changes in the lymphatic system, and tumors in the kidneys. It mainly affects women of reproductive age and is a progressive disease. LAM can occur as an isolated disease or coexist with tuberous sclerosis (TSC). The source of LAM cells is unknown. Patients with confirmed LAM should be treated with an mTOR inhibitor, sirolimus, or everolimus. We present a case of LAM with TSC in a patient whose symptoms, including those in the lymph nodes and chyaloperitoneum, mainly concern the abdominal cavity. Full article

(This article belongs to the Section Personalized Therapy and Drug Delivery)

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18 pages, 6322 KiB

Open AccessArticle

Pulmonary Artery Embolization in the Management of Hemoptysis Related to Lung Tumors

by Amandine Claudinot, Frédéric Douane, Olivier Morla, Christophe Perret, Marine Neveu, Francine Thouveny, Antoine Bouvier, José Hureaux, Arnaud Le Guen, Jérémy Jouan, Jean-François Heautot, Antoine Larralde, Damiano Cerasuolo, Emmanuel Bergot, Audrey Fohlen and Jean-Pierre Pelage

J. Pers. Med. 2023, 13(11), 1597; https://doi.org/10.3390/jpm13111597 - 12 Nov 2023

Cited by 1 | Viewed by 881

Abstract

(1) Background: Bronchial artery embolization has been shown to be effective in the management of neoplastic hemoptysis. However, knowledge of pulmonary artery embolization is lacking. The aim of this study was to evaluate the safety and efficacy of pulmonary artery embolization in patients [...] Read more.

(1) Background: Bronchial artery embolization has been shown to be effective in the management of neoplastic hemoptysis. However, knowledge of pulmonary artery embolization is lacking. The aim of this study was to evaluate the safety and efficacy of pulmonary artery embolization in patients presenting with hemoptysis related to lung tumors. (2) Methods: This retrospective study reviewed all consecutive patients with cancer and at least one episode of hemoptysis that required pulmonary artery embolization from December 2008 to December 2020. The endpoints of the study were technical success, clinical success, recurrence of hemoptysis and complications. (3) Results: A total of 92 patients were treated with pulmonary artery embolization (63.1 years ± 9.9; 70 men). Most patients had stage III or IV advanced disease. Pulmonary artery embolization was technically successful in 82 (89%) patients and clinically successful in 77 (84%) patients. Recurrence occurred in 49% of patients. Infectious complications occurred in 15 patients (16%). The 30-day mortality rate was 31%. At 3 years, the survival rate was 3.6%. Tumor size, tumor cavitation and necrosis and pulmonary artery pseudoaneurysm were significantly associated with recurrence and higher mortality. (4) Conclusions: Pulmonary artery embolization is an effective treatment to initially control hemoptysis in patients with lung carcinoma, but the recurrence rate remains high and overall survival remains poor. Full article

(This article belongs to the Special Issue Advanced Interventional Radiology: Innovation Driving Personalized Medicine)

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12 pages, 2256 KiB

Open AccessArticle

A Linear Predictor Based on FTIR Spectral Biomarkers Improves Disease Diagnosis Classification: An Application to Multiple Sclerosis

by Francesca Condino, Maria Caterina Crocco, Domenico Pirritano, Alfredo Petrone, Francesco Del Giudice and Rita Guzzi

J. Pers. Med. 2023, 13(11), 1596; https://doi.org/10.3390/jpm13111596 - 11 Nov 2023

Viewed by 889

Abstract

Multiple sclerosis (MS) is a neurodegenerative disease of the central nervous system that can lead to long-term disability. The diagnosis of MS is not simple and requires many instrumental and clinical tests. Sampling easily collected biofluids using spectroscopic approaches is becoming of increasing [...] Read more.

Multiple sclerosis (MS) is a neurodegenerative disease of the central nervous system that can lead to long-term disability. The diagnosis of MS is not simple and requires many instrumental and clinical tests. Sampling easily collected biofluids using spectroscopic approaches is becoming of increasing interest in the medical field to integrate and improve diagnostic procedures. Here we present a statistical approach where we combine a number of spectral biomarkers derived from the ATR-FTIR spectra of blood plasma samples of healthy control subjects and MS patients, to obtain a linear predictor useful for discriminating between the two groups of individuals. This predictor provides a simple tool in which the contribution of different molecular components is summarized and, as a result, the sensitivity (80%) and specificity (93%) of the identification are significantly improved compared to those obtained with typical classification algorithms. The strategy proposed can be very helpful when applied to the diagnosis of diseases whose presence is reflected in a minimal way in the analyzed biofluids (blood and its derivatives), as it is for MS as well as for other neurological disorders. Full article

(This article belongs to the Special Issue Clinical Applications of Biospectroscopy and Imaging)

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33 pages, 1192 KiB

Open AccessReview

CAR-T Cell Therapy in the Treatment of Pediatric Non-Hodgkin Lymphoma

by Magdalena Ostojska, Emilia Nowak, Julia Twardowska, Monika Lejman and Joanna Zawitkowska

J. Pers. Med. 2023, 13(11), 1595; https://doi.org/10.3390/jpm13111595 - 10 Nov 2023

Viewed by 1503

Abstract

Non-Hodgkin lymphomas (NHL) are a group of cancers that originate in the lymphatic system, especially from progenitor or mature B-cells, T-cells, or natural killer (NK) cells. NHL is the most common hematological malignancy worldwide and also the fourth most frequent type of cancer [...] Read more.

Non-Hodgkin lymphomas (NHL) are a group of cancers that originate in the lymphatic system, especially from progenitor or mature B-cells, T-cells, or natural killer (NK) cells. NHL is the most common hematological malignancy worldwide and also the fourth most frequent type of cancer among pediatric patients. This cancer can occur in children of any age, but it is quite rare under the age of 5 years. In recent decades, available medicines and therapies have significantly improved the prognosis of patients with this cancer. However, some cases of NHL are treatment resistant. For this reason, immunotherapy, as a more targeted and personalized treatment strategy, is becoming increasingly important in the treatment of NHL in pediatric patients. The objective of the following review is to gather the latest available research results, conducted among pediatric and/or adult patients with NHL, regarding one immunotherapy method, i.e., chimeric antigen receptor (CAR) T cell therapy. We focus on assessing the effectiveness of CAR-T cell therapy, which mainly targets B cell markers, CD19, CD20, and CD22, their connections with one another, sequential treatment, or connections with co-stimulatory molecules. In addition, we also evaluate the safety, aftermath (especially neurotoxicities) and limitations of CAR-T cell therapy. Full article

(This article belongs to the Special Issue Biomarkers and Personalized Therapies in Non-Hodgkin Lymphomas)

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22 pages, 1827 KiB

Open AccessFeature PaperReview

Combination of Biological Therapy in Severe Asthma: Where We Are?

by Lorenzo Carriera, Marta Fantò, Alessia Martini, Alice D’Abramo, Genesio Puzio, Marco Umberto Scaramozzino and Angelo Coppola

J. Pers. Med. 2023, 13(11), 1594; https://doi.org/10.3390/jpm13111594 - 10 Nov 2023

Cited by 3 | Viewed by 1701

Abstract

Biological drugs have revolutionized the management of severe asthma. However, a variable number of patients remain uncontrolled or only partially controlled even after the appropriate administration of a biologic agent. The combination of two biologics may target different inflammatory pathways, and it has [...] Read more.

Biological drugs have revolutionized the management of severe asthma. However, a variable number of patients remain uncontrolled or only partially controlled even after the appropriate administration of a biologic agent. The combination of two biologics may target different inflammatory pathways, and it has been used in patients suffering from uncontrolled severe asthma with evidence of both allergic and eosinophilic phenotypes or severe asthma and type2 comorbidities. Combination therapy has also been used to handle anti-IL4/13R induced hypereosinophilia. There is insufficient data on combining biologics for the treatment of severe uncontrolled asthma and type 2 comorbidities, also because of the high cost, and currently no guideline recommends dual biologic therapy. A systematic search was performed using the Medline and Scopus databases. Published data on concurrent administration of two biological drugs in severe, uncontrolled asthma patients has been reported in 28 real-world studies and 1 clinical trial. Data extraction was followed by a descriptive and narrative synthesis of the findings. Future studies should be conducted to further assess the safety, efficacy, and cost-effectiveness of this therapeutic strategy. Full article

(This article belongs to the Special Issue Personalized Medicine in Asthma: Current Approach and Future Perspectives)

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J. Pers. Med., Volume 13, Issue 11 (November 2023) – 100 articles

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