Medical sciences (Basel, Switzerland)最新文献

{"title":"Diagnostic Accuracy of Sonazoid-Enhanced Ultrasonography for Detection of Liver Metastasis.","authors":"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, Hashem Abu Serhan","doi":"10.3390/medsci13020042","DOIUrl":"https://doi.org/10.3390/medsci13020042","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the potential clinical role and reliability of Sonazoid-enhanced ultrasound (SEUS) as a diagnostic tool for liver metastatic lesions.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Visual-Motor Functions and Associated Cognitive Outcomes in Pediatric Cancer Survivors.","authors":"Alena Deviaterikova","doi":"10.3390/medsci13020041","DOIUrl":"https://doi.org/10.3390/medsci13020041","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>In total, there were 210 participants (7-17 years): 70 posterior fossa tumors (M_age = 12.1  ±  3.2 years, 44% female) and 70 acute lymphoblastic leukemia (M_age = 12.3  ±  3.4 years, 45% female) survivors and 70 (M_age = 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.</p><p><strong>Results: </strong>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, <i>p</i> = 0.000) and working memory (in the PFT group β = 0.264, t = 2.72, <i>p</i> = 0.008; in the ALL group β = 0.215, t = 2.24, <i>p</i> = 0.028).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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.","authors":"Ahmed E Altyar, Shilpa Bhardwaj, Nehmat Ghaboura, Priya Kaushik, Sattam Khulaif Alenezi, Mohammed Jaffar Sadiq Mantargi, Muhammad Afzal","doi":"10.3390/medsci13020040","DOIUrl":"https://doi.org/10.3390/medsci13020040","url":null,"abstract":"<p><p><b>Background:</b> 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. <b>Aim:</b> 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. <b>Methodology:</b> 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. <b>Results:</b> 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. <b>Conclusions:</b> 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.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Positioning of the Central Venous Catheter for Hemodialysis Using Wireless Intracavitary ECG: A Case Series and Narrative Review of the Literature.","authors":"Simone Gianazza, Cristina Valli, Stefano Mangano, Arline Vechiu, Monica Breda, Laura Composto, Clara Claudia Sardo, Camilla Ariti, Andrea Rizzi","doi":"10.3390/medsci13020039","DOIUrl":"https://doi.org/10.3390/medsci13020039","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tumour-Derived, Extracellular Microvesicles in the Treatment of Acute Renal Failure: An Experimental Study.","authors":"Galina V Seledtsova, Victor I Seledtsov, Ayana B Dorzhieva, Irina P Ivanova, Tatiana S Khabalova, Adas Darinskas, Alexei A von Delwig","doi":"10.3390/medsci13020035","DOIUrl":"https://doi.org/10.3390/medsci13020035","url":null,"abstract":"<p><p><b>Background/Objectives</b>: This investigation compared the therapeutic efficacy of extracellular microvesicles (MVs) derived from murine L929 sarcoma cells and murine mesenchymal stem cells (MSCs). <b>Methods</b>: A mouse model of acute kidney injury (AKI) was used. <b>Results</b>: 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. <b>Conclusions</b>: the results highlight the potential of tumour-derived MVs to facilitate organ repair and exert cytoprotective immunomodulatory effects.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of Electrical Household Appliances and Risk of All Types of Tumours: A Case-Control Study.","authors":"Shabana Noori, Abdul Aleem, Imrana Niaz Sultan, Afrasiab Khan Tareen, Hayat Ullah, Muhammad Waseem Khan","doi":"10.3390/medsci13020036","DOIUrl":"https://doi.org/10.3390/medsci13020036","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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.","authors":"Ciro Manzo, Marco Isetta, Alberto Castagna, Melek Kechida","doi":"10.3390/medsci13020034","DOIUrl":"https://doi.org/10.3390/medsci13020034","url":null,"abstract":"<p><p><b>Background</b>: 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. <b>Objectives</b>: 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? <b>Methods</b>: 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). <b>Conclusions</b>: Our literature review highlighted significant methodological blurred lines in the categorization of PMR following therapy with nivolumab or pembrolizumab.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety of and Adverse Reactions to the COVID-19 Vaccine Among Pregnant and Breastfeeding Women.","authors":"Nguyen Thi Minh Thanh, Le Thi Hang, Mai Trong Hung, Tran Hoa Phuong, Nguyen Thi Phuong Lan, Mac Dang Tuan, Nguyen Xuan Bach, Nguyen Duy Anh","doi":"10.3390/medsci13020038","DOIUrl":"https://doi.org/10.3390/medsci13020038","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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 <i>p</i> < 0.05.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Study of Expression of <i>MST3</i> in Myeloid Leukaemia.","authors":"Boro Arthi, Krishnaswamy Sujatha, Sridhar Gopal, Balasubramanian Balamuralikrishnan, Meyyazhagan Arun, Pappuswamy Manikantan, Palanisamy Sampathkumar, Arumugam Vijaya Anand","doi":"10.3390/medsci13020033","DOIUrl":"https://doi.org/10.3390/medsci13020033","url":null,"abstract":"<p><p>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. <i>MST3</i> 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.</p><p><strong>Objectives: </strong>The objectives of this study were to count RBCs and WBCs, study <i>MST3</i> expression in ML and control samples, and perform an in silico correlation study on the <i>KRAS</i> and <i>NRAS</i> genes.</p><p><strong>Methods: </strong>The counting of RBCs and WBCs was carried out using a hemacytometer, the expression of <i>MST3</i> was studied using RT-PCR, and a correlation study was carried out using GEPIA.</p><p><strong>Results: </strong>RBC and WBC levels in ML differed from the control levels, and the expression of <i>MST3</i> was found to be upregulated in ML in comparison to controls, with a 2.90-8.65-fold change, with a significant <i>p</i>-value > 0.05. A positive correlation in expression was also found between <i>MST3</i> and <i>KRAS</i> and <i>NRAS</i> genes, with a significant r value correlation.</p><p><strong>Conclusions: </strong>From this study, it could be deduced that <i>MST3</i> might have a role in ML pathogenesis, but further research is needed to study its role in the progression of the disease.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.","authors":"Jaikumar B Contractor, Venkatesan Radha, Krati Shah, Praveen Singh, Sunil Tadepalli, Somashekhar Nimbalkar, Viswanathan Mohan, Pratik Shah","doi":"10.3390/medsci13020037","DOIUrl":"https://doi.org/10.3390/medsci13020037","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}