Journal Description
Medical Sciences
Medical Sciences
is an international, peer-reviewed, open access journal, providing a platform for advances in basic, translational and clinical research, published quarterly online by MDPI.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, MEDLINE, CAPlus / SciFinder, and other databases.
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 24 days after submission; acceptance to publication is undertaken in 2.8 days (median values for papers published in this journal in the second half of 2024).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
- Sections: published in 12 topical sections.
Latest Articles
Dichloroacetate and Salinomycin as Therapeutic Agents in Cancer
Med. Sci. 2025, 13(2), 47; https://doi.org/10.3390/medsci13020047 - 23 Apr 2025
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Cancer is the second leading cause of mortality worldwide. Despite the available treatment options, a majority of cancer patients develop drug resistance, indicating the need for alternative approaches. Repurposed drugs, such as antiglycolytic and anti-microbial agents, have gained substantial attention as potential alternative
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Cancer is the second leading cause of mortality worldwide. Despite the available treatment options, a majority of cancer patients develop drug resistance, indicating the need for alternative approaches. Repurposed drugs, such as antiglycolytic and anti-microbial agents, have gained substantial attention as potential alternative strategies against different disease pathophysiologies, including lung cancer. To that end, multiple studies have suggested that the antiglycolytic dichloroacetate (DCA) and the antibiotic salinomycin (SAL) possess promising anticarcinogenic activity, attributed to their abilities to target the key metabolic enzymes, ion transport, and oncogenic signaling pathways involved in regulating cancer cell behavior, including cell survival and proliferation. We used the following searches and selection criteria. (1) Biosis and PubMed were used with the search terms dichloroacetate; salinomycin; dichloroacetate as an anticancer agent; salinomycin as an anticancer agent; dichloroacetate side effects; salinomycin side effects; salinomycin combination therapy; dichloroacetate combination therapy; and dichloroacetate or salinomycin in combination with other agents, including chemotherapy and tyrosine kinase inhibitors. (2) The exclusion criteria included not being related to the mechanisms of DCA and SAL or not focusing on their anticancer properties. (3) All the literature was sourced from peer-reviewed journals within a timeframe of 1989 to 2024. Importantly, experimental studies have demonstrated that both DCA and SAL exert promising anticarcinogenic properties, as well as having synergistic effects in combination with other therapeutic agents, against multiple cancer models. The goal of this review is to highlight the mechanistic workings and efficacy of DCA and SAL as monotherapies, and their combination with other therapeutic agents in various cancer models, with a major emphasis on non-small-cell lung cancer (NSCLC) treatment.
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Open AccessArticle
Trends in Heart Transplantation and Outcome Analysis: Nationwide Study Using the National Inpatient Sample and Readmission Database
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Vivek Joseph Varughese, Aditya Sunil Bhaskaran, Hadrian Hoang-Vu Tran, Nikita Wadhwani, Vignesh Krishnan Nagesh, Izage Kianifar Aguilar, Damien Islek, Simcha Weissman and Adam Atoot
Med. Sci. 2025, 13(2), 46; https://doi.org/10.3390/medsci13020046 - 22 Apr 2025
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Background: Heart transplantation (Htx) remains the definitive therapy for patients with end-stage heart failure. Despite advancements in mechanical circulatory support (MCS), immunosuppressive strategies, and organ allocation policies, donor availability remains a major limitation. This study analyzes the trends in Htx in the United
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Background: Heart transplantation (Htx) remains the definitive therapy for patients with end-stage heart failure. Despite advancements in mechanical circulatory support (MCS), immunosuppressive strategies, and organ allocation policies, donor availability remains a major limitation. This study analyzes the trends in Htx in the United States between 2016 and 2022, focusing on demographic shifts, mortality trends, and 30-day readmission patterns. Methods: We utilized the National Inpatient Sample (NIS) from 2016 to 2022 and the National Readmissions Database (NRD) for 2021 to identify Htx admissions using ICD-10 PCS code O2YA0Z0. Patient characteristics, mortality rates, and readmission patterns were analyzed using ANOVA and multivariate logistic regression, with statistical significance defined as p < 0.05. Results: The total number of Htx procedures increased from 641 in 2016 to 773 in 2022. The mean age of transplant recipients remained between 45 and 50 years, with no significant differences across years. Racial and socioeconomic disparities persisted, with approximately 60% of transplants occurring in White patients and 21–26% of recipients belonging to the lowest income quartile. All-cause in-hospital mortality remained stable at 4–7%. The 30-day readmission rate in 2021 was 57.7%, with heart failure, transplant rejection, and infections being the leading causes. Peripheral vascular disease (PVD) was the only comorbidity significantly associated with higher 30-day readmission risk (OR: 1.815, 95% CI: 1.477–2.230). Conclusions: Htx utilization has increased over time, driven by improvements in donor allocation and perioperative management. However, racial and socioeconomic disparities remain, and readmission rates continue to be high. Future efforts should focus on optimizing post-transplant care and addressing disparities to improve long-term outcomes.
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Open AccessArticle
Readmission Events Following EGD for Upper Gastrointestinal Bleed: An Analysis Using the National Readmission Database
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Vignesh Krishnan Nagesh, Vivek Joseph Varughese, Jaber Musalli, Gomathy Aarthy Nageswaran, Erin Russell, Susan Anne Feldman, Simcha Weissman and Adam Atoot
Med. Sci. 2025, 13(2), 45; https://doi.org/10.3390/medsci13020045 - 20 Apr 2025
Abstract
Background: Upper Gastrointestinal Bleed (UGIB) is a common and potentially life-threatening condition with an annual incidence of 80–150 per 100,000 individuals and a mortality rate of 2–10%. Esophagogastroduodenoscopy (EGD) is the gold standard for both diagnosis and treatment, but post-discharge outcomes, including readmissions,
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Background: Upper Gastrointestinal Bleed (UGIB) is a common and potentially life-threatening condition with an annual incidence of 80–150 per 100,000 individuals and a mortality rate of 2–10%. Esophagogastroduodenoscopy (EGD) is the gold standard for both diagnosis and treatment, but post-discharge outcomes, including readmissions, remain underexplored. Methods: This study utilized the 2021 National Readmission Database (NRD) to analyze 30-day readmission rates following EGD for UGIB. Adult patients (≥18 years) admitted for UGIB and undergoing EGD were included; those who died during the index hospitalization were excluded. Demographic, clinical, and socioeconomic factors associated with readmission were examined using multivariate logistic regression. Results: Among 34,257 patients admitted for UGIB and undergoing EGD, 11,088 (32.4%) were readmitted within 30 days, with 5423 (49%) due to recurrent UGIB. Readmitted patients had a higher mean age (68.46 vs. 67.63 years) and greater prevalence of cirrhosis (16.71% vs. 13.84%). Hospital resource utilization was significantly higher among readmissions, with increased total hospital charges (USD 82,544.82 vs. USD 61,521.17) and longer hospital stays (5.38 vs. 4.97 days). Mortality was lower among readmitted patients (1.46% vs. 3.53%). Multivariate analysis identified cirrhosis (OR 7.20, 95% CI: 6.45–8.02), untreated H. pylori infection (OR 3.43, 95% CI: 2.15–4.30), atrial fibrillation (OR 1.52, 95% CI: 1.36–1.69), and chronic antithrombotic therapy (OR 1.63, 95% CI: 1.41–1.89) as significant predictors of recurrent UGIB readmission. Lower socioeconomic status was also associated with increased readmission risk (OR 1.15, 95% CI: 1.05–1.25). Conclusions: Readmission following EGD for UGIB is common and driven primarily by recurrent bleeding. Cirrhosis, untreated H. pylori infection, atrial fibrillation, and chronic anticoagulation therapy are key risk factors. These findings highlight the need for targeted interventions, including improved post-discharge management and optimization of anticoagulation strategies, to reduce readmission rates and improve patient outcomes.
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(This article belongs to the Section Hepatic and Gastroenterology Diseases)
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Open AccessReview
Intelligent Care: A Scientometric Analysis of Artificial Intelligence in Precision Medicine
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Khalid M. Adam, Elshazali W. Ali, Mohamed E. Elangeeb, Hytham A. Abuagla, Bahaeldin K. Elamin, Elsadig M. Ahmed, Ali M. Edris, Abubakr A. Elamin Mohamed Ahmed and Elmoiz I. Eltieb
Med. Sci. 2025, 13(2), 44; https://doi.org/10.3390/medsci13020044 - 19 Apr 2025
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The integration of advanced computational methods into precision medicine represents a transformative advancement in healthcare, enabling highly personalized treatment strategies based on individual genetic, environmental, and lifestyle factors. These methodologies have significantly enhanced disease diagnostics, genomic analysis, and drug discovery. However, rapid expansion
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The integration of advanced computational methods into precision medicine represents a transformative advancement in healthcare, enabling highly personalized treatment strategies based on individual genetic, environmental, and lifestyle factors. These methodologies have significantly enhanced disease diagnostics, genomic analysis, and drug discovery. However, rapid expansion in this field has resulted in fragmented understandings of its evolution and persistent knowledge gaps. This study employs a scientometric approach to systematically map the research landscape, identify key contributors, and highlight emerging trends in precision medicine. Methods: A scientometric analysis was conducted using data retrieved from the Scopus database, covering publications from 2019 to 2024. Tools such as VOSviewer and R-bibliometrix package (version 4.3.0) were used to perform co-authorship analysis, co-citation mapping, and keyword evolution tracking. The study examined annual publication growth, citation impact, research productivity by country and institution, and thematic clustering to identify core research areas. Results: The analysis identified 4574 relevant publications, collectively amassing 70,474 citations. A rapid growth trajectory was observed, with a 34.3% increase in publications in 2024 alone. The United States, China, and Germany emerged as the top contributors, with Harvard Medical School, the Mayo Clinic, and Sichuan University leading in institutional productivity. Co-citation and keyword analysis revealed three primary research themes: diagnostics and medical imaging, genomic and multi-omics data integration, and personalized treatment strategies. Recent trends indicate a shift toward enhanced clinical decision support systems and precision drug discovery. Conclusions: Advanced computational methods are revolutionizing precision medicine, spurring increased global research collaboration and rapidly evolving methodologies. This study provides a comprehensive knowledge framework, highlighting key developments and future directions. The insights derived can inform policy decisions, funding allocations, and interdisciplinary collaborations, driving further advancements in healthcare solutions.
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Open AccessSystematic Review
A Scoping Review on the Prevalence of Hashimoto’s Thyroiditis and the Possible Associated Factors
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Hernando Vargas-Uricoechea, Alejandro Castellanos-Pinedo, Karen Urrego-Noguera, María V. Pinzón-Fernández, Ivonne A. Meza-Cabrera and Hernando Vargas-Sierra
Med. Sci. 2025, 13(2), 43; https://doi.org/10.3390/medsci13020043 - 10 Apr 2025
Abstract
Background: Hashimoto’s thyroiditis (HT) is the most common autoimmune thyroid disease (AITD) and is characterized by the presence of thyroid autoantibodies against thyroid peroxidase and/or thyroglobulin. Several studies have found that the global prevalence of HT has increased in recent decades, while others
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Background: Hashimoto’s thyroiditis (HT) is the most common autoimmune thyroid disease (AITD) and is characterized by the presence of thyroid autoantibodies against thyroid peroxidase and/or thyroglobulin. Several studies have found that the global prevalence of HT has increased in recent decades, while others show the opposite. Methods and Results: The objective of this scoping review was to synthesize and analyze the different studies that have evaluated the prevalence of HT (in adults) and the possible associated factors. The following databases were consulted, as follows: MEDLINE, Web of Science, PubMed, and Scopus. The search terms “epidemiology”, “prevalence”, and “Hashimoto disease” and “Hashimoto thyroiditis” were used. The search was limited to articles published between January 1965 and October 2024, and only articles in English were considered. In order to reduce selection bias, each article was scrutinized using the JBI Critical Appraisal Checklist independently by two authors. Studies were included if the number of participants (study population and/or cases and controls, depending on the study design) was clearly described and duplicate studies were excluded. A total of 59 studies were identified, the vast majority of them used a cross-sectional design, using different methods of disease assessment. Conclusions: Globally, the prevalence of HT is estimated to be between 5–10%; some areas with prevalences > 20% and others < 0.5% were identified. Prevalence is also higher in women than in men. Multiple underlying factors (genetic, epigenetic, environmental, and lifestyle), together with socioeconomic, nutritional, overdiagnosis, inter alia, may explain (at least in part) the wide variability in the prevalence of HT.
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(This article belongs to the Section Endocrinology and Metabolic Diseases)
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Open AccessSystematic Review
Diagnostic Accuracy of Sonazoid-Enhanced Ultrasonography for Detection of Liver Metastasis
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Anas Elgenidy, Khaled Saad, Reda Ibrahim, Aya Sherif, Taher Elmozugi, Moaz Y. Darwish, Mahmoud Abbas, Yousif A. Othman, Abdelrahman Elshimy, Alyaa M. Sheir, Dina H. Khattab, Abdallah A. Helal, Mario M. Tawadros, Osama Abuel-naga, Hazem I. Abdel-Rahman, Doaa Ali Gamal, Amira Elhoufey, Hamad Ghaleb Dailah, Rami A. Metwally, Noran ElBazzar and Hashem Abu Serhanadd
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Med. Sci. 2025, 13(2), 42; https://doi.org/10.3390/medsci13020042 - 9 Apr 2025
Abstract
Purpose: To evaluate the potential clinical role and reliability of Sonazoid-enhanced ultrasound (SEUS) as a diagnostic tool for liver metastatic lesions. Methods: An extensive literature search was conducted across five electronic databases, PubMed, Scopus, Embase, Cochrane Library, and Web of Science, from their
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Purpose: To evaluate the potential clinical role and reliability of Sonazoid-enhanced ultrasound (SEUS) as a diagnostic tool for liver metastatic lesions. Methods: An extensive literature search was conducted across five electronic databases, PubMed, Scopus, Embase, Cochrane Library, and Web of Science, from their inception up to January 2024 to identify all studies evaluating the use of Sonazoid-enhanced ultrasonography for detecting hepatic metastases. A meta-analysis was performed to assess diagnostic accuracy using the Meta-DiSc 2.0 software. Results: A total of 31 studies were included, 16 of which were eligible for meta-analysis and diagnostic test accuracy evaluation. A total of 13 studies in the meta-analysis evaluated the diagnostic accuracy of contrast-enhanced ultrasound (CEUS) for 1347 metastatic and 1565 non-metastatic liver lesions. The pooled sensitivity and specificity for CEUS were 0.88 (95% CI: 0.82–0.92) and 0.92 (95% CI: 0.84–0.96), respectively. The combined positive likelihood ratio, negative likelihood ratio, and diagnostic odds ratio were 11.89 (95% CI: 5.42–26.09), 0.12 (95% CI:0.08–0.19), and 91.99 (95% CI: 32.15–263.17), respectively. Additionally, four studies of the meta-analysis assessed the diagnostic performance of contrast-enhanced intraoperative sonography (CE-IOUS) in detecting 664 metastatic and 246 non-metastatic liver lesions. The pooled sensitivity and specificity for CE-IOUS were 0.93 (95% CI: 0.82–0.97) and 0.84 (95% CI: 0.65–0.93), respectively. The aggregated positive likelihood ratio, negative likelihood ratio, and diagnostic odds ratio were calculated as 5.95 (95% CI: 2.32–15.25), 0.07 (95% CI: 0.02–0.24), and 77.68 (95% CI: 10.33–583.86), respectively. Conclusions: CE-IOUS and CEUS are reliable approaches for diagnosing liver metastatic lesions. CE-IOUS, in particular, exhibits higher accuracy in identifying liver metastatic lesions, indicating its potential effectiveness in clinical practice.
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(This article belongs to the Section Cancer and Cancer-Related Research)
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Open AccessArticle
Visual–Motor Functions and Associated Cognitive Outcomes in Pediatric Cancer Survivors
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Alena Deviaterikova
Med. Sci. 2025, 13(2), 41; https://doi.org/10.3390/medsci13020041 - 5 Apr 2025
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Introduction: Pediatric cancer survivors are at high risk for visual–motor and cognitive deficits that persist throughout life. These domains are related to academic performance. The current study examined (i) whether both visuomotor and cognitive functions and (ii) whether visuomotor functions alone mediate the
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Introduction: Pediatric cancer survivors are at high risk for visual–motor and cognitive deficits that persist throughout life. These domains are related to academic performance. The current study examined (i) whether both visuomotor and cognitive functions and (ii) whether visuomotor functions alone mediate the relationship between age and cognitive functions. Methods: In total, there were 210 participants (7–17 years): 70 posterior fossa tumors (Mage = 12.1 ± 3.2 years, 44% female) and 70 acute lymphoblastic leukemia (Mage = 12.3 ± 3.4 years, 45% female) survivors and 70 (Mage = 12.2 ± 3.3 years, 41% female) healthy controls. Visual motor integration, motor coordination and visual perception were assessed using the Beery VMI test. Working memory, attention and planning were assessed using CANTAB. Results: Impaired motor function is significantly more pronounced than cognitive impairment in both groups of cancer survivors (effect size from 25 to 30% for visual–motor and from 5 to 7% for cognitive functions). A multiple regression model revealed that age and visual motor functions are significant predictors of attention (in the ALL group β = −0.490, t = −4.88, p = 0.000) and working memory (in the PFT group β = 0.264, t = 2.72, p = 0.008; in the ALL group β = 0.215, t = 2.24, p = 0.028). Conclusions: In children who have experienced acute lymphoblastic leukemia and tumors of the posterior cranial fossa, visual–motor dysfunction is more pronounced than cognitive impairment. In addition, there is an association between visual–motor function disorders and working memory. These findings can be used to develop more specific rehabilitation protocols.
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(This article belongs to the Section Cancer and Cancer-Related Research)
Open AccessArticle
Role of IL-2, IL-6, and TNF-α as Potential Biomarkers in Ischemic Heart Disease: A Comparative Study of Patients with CAD and Non-CAD
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Ahmed E. Altyar, Shilpa Bhardwaj, Nehmat Ghaboura, Priya Kaushik, Sattam Khulaif Alenezi, Mohammed Jaffar Sadiq Mantargi and Muhammad Afzal
Med. Sci. 2025, 13(2), 40; https://doi.org/10.3390/medsci13020040 - 4 Apr 2025
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Background: Ischemic heart disease (CAD), a leading global health burden, arises primarily from atherosclerosis, an inflammatory condition characterized by lipid accumulation and metabolic dysregulation. The precise contribution of inflammatory cytokines (IL-2, IL-6, and TNF-α) to CAD pathogenesis remains an area of significant research.
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Background: Ischemic heart disease (CAD), a leading global health burden, arises primarily from atherosclerosis, an inflammatory condition characterized by lipid accumulation and metabolic dysregulation. The precise contribution of inflammatory cytokines (IL-2, IL-6, and TNF-α) to CAD pathogenesis remains an area of significant research. Aim: The primary aim of this study is to examine the IL-2, IL-6, and TNF-α in patients with coronary artery disease (CAD) and compare them with Non-CAD individuals to evaluate their potential as diagnostic biomarkers for CAD. Methodology: A prospective observational study was conducted over 3 years, involving 100 participants divided into CAD and non-CAD groups. Blood samples were isolated and analyzed for IL-2, IL-6, and TNF-α levels utilizing ELISA kits. Biochemical parameters, including lipid profiles, were also assessed. Results: This study observed significantly elevated IL-6 in patients with CAD compared with controls, while IL-2 and TNF-α levels did not reach statistical significance. The CAD group exhibited dyslipidemia characterized by elevated triglycerides and reduced HDL. Furthermore, the CAD group demonstrated alterations in biochemical parameters, including lower albumin and calcium levels, higher urea and uric acid levels, and an elevated erythrocyte sedimentation rate. These findings suggest a systemic inflammatory state and metabolic disturbances in patients with CAD. Conclusions: This study highlights IL-6 as a potential biomarker and key player in CAD pathogenesis. These findings warrant further investigation into the therapeutic potential of targeting inflammatory pathways for cardiovascular risk reduction.
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Positioning of the Central Venous Catheter for Hemodialysis Using Wireless Intracavitary ECG: A Case Series and Narrative Review of the Literature
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Simone Gianazza, Cristina Valli, Stefano Mangano, Arline Vechiu, Monica Breda, Laura Composto, Clara Claudia Sardo, Camilla Ariti and Andrea Rizzi
Med. Sci. 2025, 13(2), 39; https://doi.org/10.3390/medsci13020039 - 2 Apr 2025
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This study aimed to evaluate the practicality and feasibility of using intracavitary electrocardiography to confirm the proper placement of a central venous catheter for hemodialysis. Central venous catheters are typically placed using an echo-guided technique based on anatomical landmarks, followed by X-ray confirmation.
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This study aimed to evaluate the practicality and feasibility of using intracavitary electrocardiography to confirm the proper placement of a central venous catheter for hemodialysis. Central venous catheters are typically placed using an echo-guided technique based on anatomical landmarks, followed by X-ray confirmation. Anesthesiology guidelines recommend evaluating the intracavitary electrocardiogram during the procedure to verify the correct CVC placement. This study involved 11 patients without rhythm disturbances, in whom a central venous catheter was placed in the right internal jugular vein at our institute in 2024. The patient’s electrocardiogram was analyzed using the MAGELLANO® (Italy) device to identify changes in the P wave or QRS complex, which confirmed the CVC’s correct placement at the right cavoatrial junction. Thoracic ultrasound was used to identify the right internal jugular vein and exclude iatrogenic pneumothorax. A subsequent chest X-ray was performed to further confirm the correct placement. In addition, a non-systematic review of the most recent literature on this topic was conducted using the Database PubMed—United States National Library of Medicine. Chest X-ray consistently verified the correct placements identified by ECG-IC, with no post-procedure complications. ECG-IC is a straightforward, viable, and cost-effective technique with high sensitivity when administered by properly trained professionals. This approach, combining ultrasound-guided CVC placement in the right internal jugular vein and intracavitary ECG monitoring, can omit X-ray control in more than 90% of cases.
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Safety of and Adverse Reactions to the COVID-19 Vaccine Among Pregnant and Breastfeeding Women
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Nguyen Thi Minh Thanh, Le Thi Hang, Mai Trong Hung, Tran Hoa Phuong, Nguyen Thi Phuong Lan, Mac Dang Tuan, Nguyen Xuan Bach and Nguyen Duy Anh
Med. Sci. 2025, 13(2), 38; https://doi.org/10.3390/medsci13020038 - 1 Apr 2025
Abstract
Objectives: This study aimed to evaluate the incidence of adverse reactions to the COVID-19 vaccine among pregnant and breastfeeding women and identify associated demographic and clinical factors. Methods: A cross-sectional study was conducted at a hospital in Hanoi, Vietnam, from November 2021 to
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Objectives: This study aimed to evaluate the incidence of adverse reactions to the COVID-19 vaccine among pregnant and breastfeeding women and identify associated demographic and clinical factors. Methods: A cross-sectional study was conducted at a hospital in Hanoi, Vietnam, from November 2021 to March 2022. A total of 1204 participants, including 991 pregnant women beyond 13 weeks of gestation and 213 breastfeeding women, were recruited through convenience sampling. Data were collected using a self-administered questionnaire designed to capture demographic information and adverse reactions occurring within seven to 28 days post-vaccination. Statistical analyses, including chi-square tests, Fisher’s exact tests, and logistic regression, were performed using Stata 16.0, with the significance set at p < 0.05. Results: The most common adverse reactions were localized pain at the injection site (26.2%), dizziness and fatigue (19.2%), and fever below 39 °C (29.1%). Severe adverse reactions, such as a tight throat, coma, and premature birth, were rare. A multivariate analysis identified the significant factors associated with the adverse reactions, including age (aOR = 2.04 for participants aged 36–40 years), occupation (lower odds for farmers and business professionals), urban residency (aOR = 0.64), and a history of allergies (aOR = 1.59). Education level, number of children, and gestational age were not significantly associated with adverse events. Conclusions: The findings support the safety of the COVID-19 vaccine in pregnant and breastfeeding women, with most of the adverse reactions being mild and self-limiting.
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(This article belongs to the Section Immunology and Infectious Diseases)
Open AccessReview
Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease
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Jaikumar B. Contractor, Venkatesan Radha, Krati Shah, Praveen Singh, Sunil Tadepalli, Somashekhar Nimbalkar, Viswanathan Mohan and Pratik Shah
Med. Sci. 2025, 13(2), 37; https://doi.org/10.3390/medsci13020037 - 1 Apr 2025
Abstract
India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations. COVID-19 further exacerbated the issues with such sample sharing. Congenital Hyperinsulinism (CHI) is a rare
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India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations. COVID-19 further exacerbated the issues with such sample sharing. Congenital Hyperinsulinism (CHI) is a rare genetic disorder of pancreatic β-cells causing hypoglycaemia in children due to abnormal insulin secretion. Given India’s high birth rate and consanguineous populations, annual CHI cases are estimated to be around up to 10,000, with up to 50% having unexplained genetic causes. Diffuse or atypical lesions in such patients often necessitate near-total-pancreatectomy, risking pancreatic exocrine insufficiency and diabetes, requiring lifelong therapy. Also, novel genetic variations complicate accurate diagnosis, risk assessment, and counselling, emphasising the need for rapid genetic assessment to prevent neurological injuries and inform treatment decisions. Despite significant efforts at many institutes, there are no dedicated organisations for CHI in India. With the implementation of the National Policy for Rare Diseases 2021, we plan to form a non-profit organisation, “Congenital Hyperinsulinism India Association (CHIA)”, comprising paediatric endocrinologists, paediatricians, geneticists, and independent researchers. The aims of this association are to generate a national database registry of patients, formulate a parent support group and CHIA consortium, design patient information leaflets, as well as foster genomic collaborations and promote clinical trials. Such steps will help sensitise the health authorities and policy makers, urging them to improve the allocation of health budgets for rare diseases, as well as empower patients and their families, contributing towards a better quality of life.
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(This article belongs to the Section Endocrinology and Metabolic Diseases)
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Use of Electrical Household Appliances and Risk of All Types of Tumours: A Case-Control Study
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Shabana Noori, Abdul Aleem, Imrana Niaz Sultan, Afrasiab Khan Tareen, Hayat Ullah and Muhammad Waseem Khan
Med. Sci. 2025, 13(2), 36; https://doi.org/10.3390/medsci13020036 - 1 Apr 2025
Abstract
Introduction: The use of electrical appliances using extremely low frequency (ELF) electromagnetic fields (EMF) has increased in the past few years. These ELF MF are reported to be linked to several adverse health effects. However, only a couple of studies have been conducted
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Introduction: The use of electrical appliances using extremely low frequency (ELF) electromagnetic fields (EMF) has increased in the past few years. These ELF MF are reported to be linked to several adverse health effects. However, only a couple of studies have been conducted on the association between risk of tumours and use of electronic devices using low frequency (LF) EMF. Methods: We studied the use of common household electrical appliances and suspected risk of tumours in a multi-hospital-based case-control study. In total, 316 patients were included in the final analysis. Results: The study results showed a below unity risk for most of the devices. A slight increased risk of tumour was observed for computer screen use OR: 1.13 (95% CI: 0.43–3.02) and use of microwave oven OR: 1.21 (95% CI: 0.36–4.04). We also had chance to investigate ELF MFs exposure association with tumour. Where we observed elevated odd ratios in individuals living near electricity transformer stations, with a statistically significant risk OR: 2.16 (95% CI: 1.30–3.59). However, the risk was below unity (OR: 0.98) in individuals residing close to powerlines. Conclusion: The current study serves as a pilot study of primary data and will be helpful in future epidemiological research studies on the topic in the region.
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(This article belongs to the Section Cancer and Cancer-Related Research)
Open AccessArticle
Tumour-Derived, Extracellular Microvesicles in the Treatment of Acute Renal Failure: An Experimental Study
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Galina V. Seledtsova, Victor I. Seledtsov, Ayana B. Dorzhieva, Irina P. Ivanova, Tatiana S. Khabalova, Adas Darinskas and Alexei A. von Delwig
Med. Sci. 2025, 13(2), 35; https://doi.org/10.3390/medsci13020035 - 1 Apr 2025
Abstract
Background/Objectives: This investigation compared the therapeutic efficacy of extracellular microvesicles (MVs) derived from murine L929 sarcoma cells and murine mesenchymal stem cells (MSCs). Methods: A mouse model of acute kidney injury (AKI) was used. Results: Both MVs from L929 cells
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Background/Objectives: This investigation compared the therapeutic efficacy of extracellular microvesicles (MVs) derived from murine L929 sarcoma cells and murine mesenchymal stem cells (MSCs). Methods: A mouse model of acute kidney injury (AKI) was used. Results: Both MVs from L929 cells (L929-MVs) and MSCs (MSC-MVs), unlike those obtained from murine peripheral blood mononuclear cells (PBMCs), enhanced survival rates in AKI mice and significantly improved kidney function. This was indicated by decreased levels of urine albumin and serum creatinine. Furthermore, treatment with L929-MVs and MSC-MVs elevated the proportions of CD4+CD25+FOXP3+ regulatory T cells while reducing the presence of pro-inflammatory CD4+CD44+ T cells in the spleens of AKI mice. Conclusions: the results highlight the potential of tumour-derived MVs to facilitate organ repair and exert cytoprotective immunomodulatory effects.
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(This article belongs to the Section Nephrology and Urology)
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Open AccessSystematic Review
Polymyalgia Rheumatica (PMR) and Polymyalgia Rheumatica-like (PMR-like) Manifestations in Cancer Patients Following Treatment with Nivolumab and Pembrolizumab: Methodological Blurred Points Identified Through a Systematic Review of Published Case Reports
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Ciro Manzo, Marco Isetta, Alberto Castagna and Melek Kechida
Med. Sci. 2025, 13(2), 34; https://doi.org/10.3390/medsci13020034 - 1 Apr 2025
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Background: Among rheumatologic diseases following therapy with immune checkpoint inhibitors (ICIs), the cases of cancer patients diagnosed as having polymyalgia rheumatica (PMR), particularly with nivolumab and pembrolizumab, has been steadily rising in published reports. Objectives: We performed a systematic review of
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Background: Among rheumatologic diseases following therapy with immune checkpoint inhibitors (ICIs), the cases of cancer patients diagnosed as having polymyalgia rheumatica (PMR), particularly with nivolumab and pembrolizumab, has been steadily rising in published reports. Objectives: We performed a systematic review of published case reports with the aim of answering these questions: (1) Is PMR following therapy with nivolumab and pembrolizumab an adverse drug reaction (ADR)? (2) Is there a difference between cases of PMR following therapy with nivolumab and those following therapy with pembrolizumab? Methods: Based on Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, a comprehensive literature search in three main bibliographic databases: MEDLINE (Ovid interface), EMBASE, and COCHRANE Library was carried out on 27 December 2024. This systematic review has no registration number. Results: Data were extracted from 12 patients. Namely, 5 cases followed treatment with nivolumab and 7 with pembrolizumab. Validated scales for ADR assessment—such as Naranjo’s scale—were not used in 10 out of the 12 patients. Additionally, validated diagnostic or classification criteria for PMR were used in the majority of case reports related to nivolumab. On the contrary, clinical judgment alone was the rule in almost all case reports on pembrolizumab. Finally, the time interval between PMR manifestations and nivolumab/pembrolizumab therapy ranged from one to 14 cycles (fully compatible with pharmacokinetics). Conclusions: Our literature review highlighted significant methodological blurred lines in the categorization of PMR following therapy with nivolumab or pembrolizumab.
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(This article belongs to the Section Cancer and Cancer-Related Research)
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Open AccessArticle
Study of Expression of MST3 in Myeloid Leukaemia
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Boro Arthi, Krishnaswamy Sujatha, Sridhar Gopal, Balasubramanian Balamuralikrishnan, Meyyazhagan Arun, Pappuswamy Manikantan, Palanisamy Sampathkumar and Arumugam Vijaya Anand
Med. Sci. 2025, 13(2), 33; https://doi.org/10.3390/medsci13020033 - 1 Apr 2025
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Myeloid leukaemia (ML) is a cancer that occurs by the accumulation of abnormally multiplied myeloid cells in bone marrow, peripheral blood, and other related tissue. MST3 is a gene of the GCK family that has a role in apoptosis, along with other cellular
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Myeloid leukaemia (ML) is a cancer that occurs by the accumulation of abnormally multiplied myeloid cells in bone marrow, peripheral blood, and other related tissue. MST3 is a gene of the GCK family that has a role in apoptosis, along with other cellular functions like cellular differentiation, cell cycle, metabolism, and others. Objectives: The objectives of this study were to count RBCs and WBCs, study MST3 expression in ML and control samples, and perform an in silico correlation study on the KRAS and NRAS genes. Methods: The counting of RBCs and WBCs was carried out using a hemacytometer, the expression of MST3 was studied using RT-PCR, and a correlation study was carried out using GEPIA. Results: RBC and WBC levels in ML differed from the control levels, and the expression of MST3 was found to be upregulated in ML in comparison to controls, with a 2.90–8.65-fold change, with a significant p-value > 0.05. A positive correlation in expression was also found between MST3 and KRAS and NRAS genes, with a significant r value correlation. Conclusions: From this study, it could be deduced that MST3 might have a role in ML pathogenesis, but further research is needed to study its role in the progression of the disease.
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Open AccessReview
State-of-the-Art Review on the Treatment of Axial Spondyloarthritis
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Evripidis Kaltsonoudis, Panagiota Karagianni, Tereza Memi and Eleftherios Pelechas
Med. Sci. 2025, 13(1), 32; https://doi.org/10.3390/medsci13010032 - 16 Mar 2025
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The term axial spondyloarthritis (axSpA) encompasses patients with both radiographic (r-axSpA) and non-radiographic (nr-axSpA) forms of the disease. These are two entities within the same family that share many genetic and pathogenic factors, but they also have significant differences. For example, the male-to-female
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The term axial spondyloarthritis (axSpA) encompasses patients with both radiographic (r-axSpA) and non-radiographic (nr-axSpA) forms of the disease. These are two entities within the same family that share many genetic and pathogenic factors, but they also have significant differences. For example, the male-to-female ratio is 2:1 in r-axSpA and 1:1 in nr-axSpA. Additionally, the prevalence of the HLA-B27 gene is notably higher in r-axSpA. Early diagnosis remains an unmet need, with magnetic resonance imaging (MRI) being the most important tool for diagnosis and disease monitoring. Early detection is crucial, as it allows for timely treatment, increasing the chances of preventing new bone formation and long-term structural bone damage. Various cytokines, such as tumor necrosis factor (TNF)-α and interleukin-17, play active roles in the disease’s pathogenesis, although the exact mechanisms of interaction are not yet fully understood. Clarifying these mechanisms will be key to developing new classification criteria, screening methods, and more personalized, targeted therapies. Non-steroidal anti-inflammatory drugs (NSAIDs), TNF inhibitors, interleukin-17 blockers, and, more recently, Janus kinase (JAK) inhibitors, are the most effective treatments for both radiographic and non-radiographic axial spondyloarthritis.
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Open AccessArticle
Association Between Sociodemographic Disparities and Door to Computerized Tomography Time in Patients with Acute Ischemic Stroke Across COVID-19 Periods in the Emergency Department: A Multi-Center Cohort Study
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Yu-Lin Hsieh, Ching-Fang Tiffany Tzeng, Maha Khan, Andrew Shedd, Thomas Damrow, Dahlia Hassani, Matthew Danley, Jaydeep Shah, Jennifer Walker and Eric H. Chou
Med. Sci. 2025, 13(1), 31; https://doi.org/10.3390/medsci13010031 - 15 Mar 2025
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Introduction: Stroke is the fifth leading cause of death and long-term disability in the United States. The current guideline for stroke management includes a 25 min timeframe from door-to-computed tomography time (DTCT). However, sociodemographic backgrounds may impact the DTCT in acute stroke patients.
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Introduction: Stroke is the fifth leading cause of death and long-term disability in the United States. The current guideline for stroke management includes a 25 min timeframe from door-to-computed tomography time (DTCT). However, sociodemographic backgrounds may impact the DTCT in acute stroke patients. Methods: This was a retrospective, multicenter, cohort study between January 2018 and August 2022 throughout North Texas. The primary endpoint was DTCT ≤ 25 min upon arrival to hospital for all patients suspected of acute ischemic stroke. Results: During the study period, a total of 23,364 patients were included. Only 4468 patients (19.1%) had DTCT times less than or equal to 25 min, and 16,464 patients (70.5%) had DTCT times more than 25 min. In our cohort, Black (OR 1.35; 95% CI 1.23–1.49) and Asian patients (OR 1.33; 95% CI 1.01–1.74) were more likely to have DTCT > 25 min compared to White patients. Hispanic patients (OR 1.20; 95% CI 1.07–1.34) were more likely to have DTCT > 25 min compared to non-Hispanics. Patients presenting during the COVID (OR 1.45; 95% CI 1.34–1.57) and post-COVID period (OR 1.46; 95% CI 1.30–1.65) were more likely to have DTCT > 25 min compared to the pre-COVID period. Conclusions: We demonstrated a discrepancy in DTCT time for acute ischemic stroke patients based on their race and ethnic population and an increase in DTCT time after the start of COVID-19, which has persisted after the pandemic. These diverse factors highlight the complex interplay of logistical, organizational, and healthcare challenges that have influenced DTCT time.
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Open AccessArticle
Treatment of Vitamin D Deficiency in Decompensated Patients with Cirrhosis Is Associated with Improvement in Frailty
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Raquel Díaz-Ruíz, Maria Poca, Eva Román, Berta Cuyàs, Irene Bañares, Ángela Morales, Elvira Hernández Martínez-Esparza, Rocío Panadero, Cristina Velasco, Marta Rapado-Castro, Irene Bretón, Rafael Bañares, German Soriano and Rita García-Martínez
Med. Sci. 2025, 13(1), 30; https://doi.org/10.3390/medsci13010030 - 13 Mar 2025
Abstract
Background/aim: Frailty is increasingly recognized as a relevant prognostic factor in patients with cirrhosis, regardless of liver failure. Vitamin D deficiency is frequent in these patients and has been related to frailty and sarcopenia, but the impact of its supplementation on frailty
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Background/aim: Frailty is increasingly recognized as a relevant prognostic factor in patients with cirrhosis, regardless of liver failure. Vitamin D deficiency is frequent in these patients and has been related to frailty and sarcopenia, but the impact of its supplementation on frailty in cirrhosis is unknown. The aim was to evaluate the effect of vitamin D supplementation on frailty in patients with decompensated cirrhosis and vitamin D deficiency or insufficiency. Methods: We included patients with cirrhosis who had vitamin D deficiency or insufficiency following their hospitalization for acute decompensation. Vitamin D was supplemented according to current recommendations, as were other micronutrients if necessary. Patients were followed for one year to evaluate changes at 6 and 12 months in frailty (Fried frailty index), health-related quality of life (SF-36, CLDQ) and mood (HADS). Body composition was assessed by DXA at baseline and at 12 months. Results: We included 39 patients, 27 of whom reached the 6-month follow-up. Serum vitamin D increased at 6 and 12 months (p < 0.001 compared to baseline). Fried frailty index improved at the 6-month visit (p = 0.004), and handgrip strength improved at 6 (p = 0.001) and 12 (p = 0.002) months, similarly in women and men. At 12 months, we observed an increase in body mass index, right arm lean mass and total fat mass. Conclusions: A multifactorial nutritional intervention, especially vitamin D supplementation after discharge in decompensated, vitamin D-deficient patients with cirrhosis, was associated with an improvement in frailty, muscular strength and lean muscle mass. However, the increase in fat mass strengthens the recommendation for diet, exercise and weight supervision.
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(This article belongs to the Section Hepatic and Gastroenterology Diseases)
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Open AccessArticle
Change in Indications and Outcomes for Stereotactic Biopsy Following Transition from Full Field Digital Mammography + Digital Breast Tomosynthesis to Full Field Synthetic Mammography + Digital Breast Tomosynthesis
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Jose Net, Antoine Hamedi-Sangsari, Taylor Schwartz, Mirelys Barrios, Nicole Brofman, Cedric Pluguez-Turull, Jamie Spoont, Sarah Stamler and Monica Yepes
Med. Sci. 2025, 13(1), 29; https://doi.org/10.3390/medsci13010029 - 12 Mar 2025
Abstract
Background: Synthetic 2D mammography was developed to decrease radiation exposure, but to our knowledge there have been no studies evaluating the impact of implementation of full field synthetic mammography/digital breast tomosynthesis (FFSM/DBT) on indications for stereotactic biopsy. Objective: To compare indications and biopsy
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Background: Synthetic 2D mammography was developed to decrease radiation exposure, but to our knowledge there have been no studies evaluating the impact of implementation of full field synthetic mammography/digital breast tomosynthesis (FFSM/DBT) on indications for stereotactic biopsy. Objective: To compare indications and biopsy outcomes for stereotactic biopsy for full field digital mammography (FFDM/DBT) to those of FFSM/DBT. Methods: Retrospective chart review of stereotactic biopsies performed from July 2014 to September 2018. Reports were reviewed and indication for biopsy, lesion size, and final pathology were recorded. Comparison between the two groups following transition to FFSM/DBT in 2016 was performed. Results: 66 of 361 stereotactic biopsies performed in the FFDM/DBT group were malignant (PPV 18.3%), compared to 60 of the 391 biopsies performed in the FFSM/DBT group (PPV 15.4%) with no significant difference in PPV (p = 0.281). There were statistically significant changes in indications for biopsies after transitioning to FFSM/DBT: with a decrease in calcifications referred for biopsy (68.03% vs. 89.75%; p < 0.001), and a statistically significant increase in referral of masses (10.74% vs. 4.43%; p < 0.001), asymmetries (15.60% vs. 5.26%; p < 0.001), and architectural distortion (5.63% vs. 0.55%; p < 0.001). PPV across all indications (21.8% in FFSM/DBT vs. 20.3% in FFDM; p = 0.213), and invasive cancer yield (5.63% vs. 3.32%; p = 0.129) remained comparable following transition to FFSM/DBT without statistically significant differences. Conclusions: Following transition to FFSM/DBT, statistically significant shifts in indications for biopsies were observed with a decrease in referral of calcifications and an increase for masses, asymmetries and architectural distortions. PPV for stereotactic biopsy was not significantly different and cancer yield across all indications remained similar, with an increase in invasive cancer diagnosis.
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(This article belongs to the Section Cancer and Cancer-Related Research)
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Protective Effect of Daily Physical Activity Against COVID-19 in a Young Adult Population on Reunion Island
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Camille Cazeneuve, David Couret, Gregorie Lebeau, Wildriss Viranaicken, Marie-Eve Mathieu and Florian Chouchou
Med. Sci. 2025, 13(1), 28; https://doi.org/10.3390/medsci13010028 - 12 Mar 2025
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The global fight against pandemics is a major public health issue. Epidemiological studies showed a reduced risk of the coronavirus disease 2019 (COVID-19) severity with the practice of regular physical activity (PA) in clinical populations. Here, we investigated the effect of PA against
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The global fight against pandemics is a major public health issue. Epidemiological studies showed a reduced risk of the coronavirus disease 2019 (COVID-19) severity with the practice of regular physical activity (PA) in clinical populations. Here, we investigated the effect of PA against COVID-19 in a young general population. Methods: Two hundred ninety volunteers over 18 years old from Reunion Island responded to an online survey concerning sociodemographic, lifestyle and clinical information. Daily PA was studied using the International Physical Activity Questionnaire short version (IPAQ) and classified by overall score and intensities of PA. Results: Among 290 responders [179 women, median age = 27.5 years (interquartile range = 21.3 years)], 141 (48.6%) reported COVID-19 infection. Multivariate logistic analysis adjusted for age, sex, body mass index, chronic disease and alcohol consumption showed that the number of days per week of regular intense PA was independently associated with a low risk of COVID-19 infection [odds ratio (OR) 0.86; 95% confidence interval (CI) 0.24 to 0.99; p = 0.030], while regular moderate PA was not [OR 1.10; 95%CI 0.97 to 1.23; p = 0.137]. Conclusions: In a population of young adults, regular intense PA could offer a protective effect against COVID-19. Additional research is required to confirm this association in various viral infections and elucidate the fundamental mechanisms involved.
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