World journal of experimental medicine最新文献

{"title":"Clinicopathological and molecular insights into odontogenic tumors associated with syndromes: A comprehensive review.","authors":"Lauren Frenzel Schuch, Felipe Martins Silveira, Vanesa Pereira-Prado, Estefania Sicco, Deepak Pandiar, Mariana Villarroel-Dorrego, Ronell Bologna-Molina","doi":"10.5493/wjem.v14.i4.98005","DOIUrl":"10.5493/wjem.v14.i4.98005","url":null,"abstract":"<p><p>The association between genetic syndromes and odontogenic tumors encompasses several entities, reflecting the intricate interplay between genetic factors and the development of these lesions. The present study aimed to comprehensively investigate the associations between genetic syndromes and odontogenic tumors. We delineated the diverse spectrum of syndromic connections, including key syndromes such as Gardner syndrome, Gorlin syndrome, Schimmelpenning syndrome, and others. Our findings underscore the clinical significance of recognizing odontogenic tumors associated with genetic syndromes as diagnostic indicators for early intervention. We advocate for multidisciplinary collaboration among clinicians, geneticists, and researchers to deepen our understanding of the underlying mechanisms driving these syndromic associations. In light of this, our study contributes to the growing body of knowledge in dentistry and medical genetics, offering insights that may inform clinical practice and enhance patient care for individuals affected by genetic syndromes and odontogenic tumors.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 4","pages":"98005"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11551705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878702","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":"Dapagliflozin as an oral antihyperglycemic agent in the management of diabetes mellitus in patients with liver cirrhosis.","authors":"Zeinab Seif El-Din, Mohammed Afify, Essam Zayed, Dalia Elsabaawy, El Sayed Tharwa, Ahmed Elsharawy, Eman Abdelsameea, Mohamed Akl Rady","doi":"10.5493/wjem.v14.i4.95272","DOIUrl":"10.5493/wjem.v14.i4.95272","url":null,"abstract":"<p><strong>Background: </strong>The use of dapagliflozin in patients with cirrhosis has been relatively restricted due to concerns regarding its overall safety and pharmacological profile in this population.</p><p><strong>Aim: </strong>To determine the safety and effectiveness of dapagliflozin in the co-management of diabetes mellitus and cirrhosis with or without ascites.</p><p><strong>Methods: </strong>The patients studied were divided into two groups: 100 patients in the control group received insulin, while 200 patients received dapagliflozin. These patients were classified as Child A, B, or C based on the Child-Pugh classification. Child A or B and Child C were administered doses of 10 mg and 5 mg of dapagliflozin, respectively.</p><p><strong>Results: </strong>The rate of increased diuretics dose was markedly elevated in the group that received insulin compared to the group that received dapagliflozin. In addition, dapagliflozin treatment substantially reduced weight, body mass index, and fasting blood glucose compared to the insulin group during follow-up. However, there were no significant differences in hemoglobin A1c, liver function, or laboratory investigations between both groups during the follow-up period. The incidence of hypoglycemia, hepatic encephalopathy, variceal bleeding, and urinary tract infection was significantly higher in the insulin group compared to the dapagliflozin group. In contrast, the dapagliflozin group experienced significantly higher rates of frequent urination and dizziness. In addition, the insulin group exhibited a marked worsening of ascites compared to the dapagliflozin group.</p><p><strong>Conclusion: </strong>Dapagliflozin demonstrated safety and efficacy in the treatment of diabetic patients who have cirrhosis with or without ascites. This resulted in an improvement of ascites, as well as a decrease in diuretic dose and Child-Pugh score.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 4","pages":"95272"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11551699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878706","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":"Statins decrease the risk of hepatocellular carcinoma in metabolic dysfunction-associated steatotic liver disease: A systematic review and meta-analysis.","authors":"Zahid Ijaz Tarar, Umer Farooq, Faisal Inayat, Sanket D Basida, Faisal Ibrahim, Mustafa Gandhi, Gul Nawaz, Arslan Afzal, Ammad J Chaudhary, Faisal Kamal, Ahmad H Ali, Yezaz A Ghouri","doi":"10.5493/wjem.v14.i4.98543","DOIUrl":"10.5493/wjem.v14.i4.98543","url":null,"abstract":"<p><strong>Background: </strong>Metabolic dysfunction-associated steatotic liver disease (MASLD) is a leading cause of chronic liver disease with a significant risk of developing hepatocellular carcinoma (HCC). Recent clinical evidence indicates the potential benefits of statins in cancer chemoprevention and therapeutics. However, it is still unclear if these drugs can lower the specific risk of HCC among patients with MASLD.</p><p><strong>Aim: </strong>To investigate the impact of statin use on the risk of HCC development in patients with MASLD.</p><p><strong>Methods: </strong>A systematic review and meta-analysis of all the studies was performed that measured the effect of statin use on HCC occurrence in patients with MASLD. The difference in HCC risk between statin users and non-users was calculated among MASLD patients. We also evaluated the risk difference between lipophilic versus hydrophilic statins and the effect of cumulative dose on HCC risk reduction.</p><p><strong>Results: </strong>A total of four studies consisting of 291684 patients were included. MASLD patients on statin therapy had a 60% lower pooled risk of developing HCC compared to the non-statin group [relative risk (RR) = 0.40, 95%CI: 0.31-0.53, <i>I</i> ² = 16.5%]. Patients taking lipophilic statins had a reduced risk of HCC (RR = 0.42, 95%CI: 0.28-0.64), whereas those on hydrophilic statins had not shown the risk reduction (RR = 0.57, 95%CI: 0.27-1.20). The higher (> 600) cumulative defined daily doses (cDDD) had a 70% reduced risk of HCC (RR = 0.30, 95%CI: 0.21-0.43). There was a 29% (RR = 0.71, 95%CI: 0.55-0.91) and 43% (RR = 0.57, 95%CI: 0.40-0.82) decreased risk in patients receiving 300-599 cDDD and 30-299 cDDD, respectively.</p><p><strong>Conclusion: </strong>Statin use lowers the risk of HCC in patients with MASLD. The higher cDDD and lipophilicity of statins correlate with the HCC risk reduction.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 4","pages":"98543"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11551700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878908","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":"HIPPO artificial intelligence: Correlating automated radiographic femoroacetabular measurements with patient-reported outcomes in developmental hip dysplasia.","authors":"Ahmed Alshaikhsalama, Holden Archer, Yin Xi, Richard Ljuhar, Joel E Wells, Avneesh Chhabra","doi":"10.5493/wjem.v14.i4.99359","DOIUrl":"10.5493/wjem.v14.i4.99359","url":null,"abstract":"<p><strong>Background: </strong>Hip dysplasia (HD) is characterized by insufficient acetabular coverage of the femoral head, leading to a predisposition for osteoarthritis. While radiographic measurements such as the lateral center edge angle (LCEA) and Tönnis angle are essential in evaluating HD severity, patient-reported outcome measures (PROMs) offer insights into the subjective health impact on patients.</p><p><strong>Aim: </strong>To investigate the correlations between machine-learning automated and manual radiographic measurements of HD and PROMs with the hypothesis that artificial intelligence (AI)-generated HD measurements indicating less severe dysplasia correlate with better PROMs.</p><p><strong>Methods: </strong>Retrospective study evaluating 256 hips from 130 HD patients from a hip preservation clinic database. Manual and AI-derived radiographic measurements were collected and PROMs such as the Harris hip score (HHS), international hip outcome tool (iHOT-12), short form (SF) 12 (SF-12), and Visual Analogue Scale of the European Quality of Life Group survey were correlated using Spearman's rank-order correlation.</p><p><strong>Results: </strong>The median patient age was 28.6 years (range 15.7-62.3 years) with 82.3% of patients being women and 17.7% being men. The median interpretation time for manual readers and AI ranged between 4-12 minutes per patient and 31 seconds, respectively. Manual measurements exhibited weak correlations with HHS, including LCEA (<i>r</i> = 0.18) and Tönnis angle (<i>r</i> = -0.24). AI-derived metrics showed similar weak correlations, with the most significant being Caput-Collum-Diaphyseal (CCD) with iHOT-12 at <i>r</i> = -0.25 (<i>P</i> = 0.042) and CCD with SF-12 at <i>r</i> = 0.25 (<i>P</i> = 0.048). Other measured correlations were not significant (<i>P</i> > 0.05).</p><p><strong>Conclusion: </strong>This study suggests AI can aid in HD assessment, but weak PROM correlations highlight their continued importance in predicting subjective health and outcomes, complementing AI-derived measurements in HD management.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 4","pages":"99359"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11551701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878848","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":"Value of autopsy in the modern age: Discrepancy between clinical and autopsy diagnoses.","authors":"Cecilia Salzillo, Roberta Basile, Gerardo Cazzato, Giuseppe Ingravallo, Andrea Marzullo","doi":"10.5493/wjem.v14.i4.95147","DOIUrl":"10.5493/wjem.v14.i4.95147","url":null,"abstract":"<p><strong>Background: </strong>Autopsy is a medical procedure that consists of the examination of the corpse to determine the cause of death and obtain information on pathological conditions or injuries. In recent years, there has been a reduction in hospital autopsies and an increase in forensic autopsies.</p><p><strong>Aim: </strong>To evaluate the utility of autopsy in the modern age and the discrepancy between clinical and autopsy diagnoses.</p><p><strong>Methods: </strong>A retrospective observational study was conducted on the reports of all 645 hospital autopsies performed at Polyclinic of Bari from 2006 to 2021.</p><p><strong>Results: </strong>Group A, 2006-2009, 174 cases were studied: 58% male, 58% adults, 55% neonatology; pulmonary disease was the cause of death in 23% of cases; and there was a discrepancy between clinical and autopsy diagnosis in 55% of cases. Group B, 2010-2013, 119 cases: 52% male, 46% infants, 48% neonatology; pulmonary disease was the cause of death in 25% of cases; and there was a discrepancy between clinical and autopsy diagnosis in 56% of cases. Group C, 2014-2017, 168 cases: sex equality, 37% infants, 25% gynecology; pulmonary disease was the cause of death in 24% of cases; and there was a discrepancy between clinical and autopsy diagnosis in 58% of cases. Group D, 2018-2021, 184 cases: 56% male, 38% adult, 32% gynecology; pulmonary disease was the cause of death in 27% of cases; and there was a discrepancy between clinical and autopsy diagnosis in 58% of cases.</p><p><strong>Conclusion: </strong>The study of hospital autopsies reveals a 56.75% discrepancy between clinical diagnosis and autopsy, highlighting the importance of autopsies, especially for fetal and neonatal diseases, which represent 59% of cases.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 4","pages":"95147"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11551709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878909","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":"Association of cannabis use disorder with atrial fibrillation in young men without concomitant tobacco use: Insights from nationwide propensity matched analysis.","authors":"Bhavin Patel, Sumanth Khadke, Kshitij Mahajan, Avleen Dhingra, Rishika Trivedi, Samrath Singh Brar, Sakshi Dixit, Vaibhav Periwal, Shaylika Chauhan, Rupak Desai","doi":"10.5493/wjem.v14.i3.93742","DOIUrl":"10.5493/wjem.v14.i3.93742","url":null,"abstract":"<p><strong>Background: </strong>Recent data are inconclusive regarding the risk of arrhythmias among young cannabis users. Furthermore, many young adults use both cannabis and tobacco, which could add a residual confounding effect on outcomes. So, we studied young men who have cannabis use disorder (CUD) excluding tobacco use disorder (TUD) to understand their independent association with atrial fibrillation (AF) and related outcomes.</p><p><strong>Aim: </strong>To study the association of CUD with AF and related outcomes.</p><p><strong>Methods: </strong>We used weighted discharge records from National Inpatient Sample (2019) to assess the baseline characteristics and mortality rates for AF-related hospitalizations in young (18-44 years) men in 1:1 propensity-matched CUD + <i>vs</i> CUD- cohorts without TUD.</p><p><strong>Results: </strong>Propensity matched CUD + and CUD- cohorts consisted of 108495 young men in each arm. Our analysis showed an increased incidence of AF in black population with CUD. In addition, the CUD + cohort had lower rates of hyperlipidemia (6.4% <i>vs</i> 6.9%), hypertension (5.3% <i>vs</i> 6.3%), obesity (9.1% <i>vs</i> 10.9%), alcohol abuse (15.5% <i>vs</i> 16.9%), but had higher rates of anxiety (24.3% <i>vs</i> 18.4%) and chronic obstructive pulmonary disease (COPD) (9.8% <i>vs</i> 9.4%) compared to CUD-cohort. After adjustment with covariates including other substance abuse, a non-significant association was found between CUD + cohort and AF related hospitalizations (odd ratio: 1.27, 95% confidence interval: 0.91-1.78, <i>P</i> = 0.15).</p><p><strong>Conclusion: </strong>Among hospitalized young men, the CUD + cohort had a higher prevalence of anxiety and COPD, and slightly higher proportion of black patients. Although there were higher odds of AF hospitalizations in CUD + cohort without TUD, the association was statistically non-significant. The subgroup analysis showed higher rates of AF in black patients. Large-scale prospective studies are required to evaluate long-term effects of CUD on AF risk and prognosis without TUD and concomitant substance abuse.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 3","pages":"93742"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309334","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":"Malignant pleural mesothelioma: The disdained member of thoracic oncology!","authors":"Divya Khosla, Pawan Kumar Singh, Bharath A Chhabria, Vaishali Kataria, Navneet Singh, Rakesh Kapoor","doi":"10.5493/wjem.v14.i3.91739","DOIUrl":"10.5493/wjem.v14.i3.91739","url":null,"abstract":"<p><p>Pleural mesothelioma is a very aggressive malignancy that arises from the pleural mesothelial cell lining and is linked strongly to prior asbestos exposure. The ban on asbestos has helped to lower the incidence, but in developing countries like India, it is expected to rise. It has an extended latency period usually progressing over decades and presents with nonspecific symptoms. It has a median survival ranging between 10-22 months. The diagnosis of malignant pleural mesothelioma is challenging and is done using computed tomography (CT), magnetic resonance imaging, or positron emission tomography-CT, with the last two predicting the resectability of the tumor better than CT alone. A pleural biopsy along with an array of immunohistochemical markers, such as p16, BRCA1 associated protein 1, and claudin-4, are required for a definitive diagnosis. Several genetic alterations have prognostic significance as well. The current histological subtype identification is indispensable for decision making because of the new therapeutic avenues being explored. The combination of nivolumab and ipilimumab-based immunotherapy outperformed platinum and pemetrexed-based chemotherapy in terms of survival benefit and improved quality of life especially for non-epithelioid subtypes. However, the latter continues to be a robust treatment option for patients with the epithelioid subtype. Surgery is recommended for resectable cases with radiotherapy being indicated in neoadjuvant, adjuvant, and palliative settings along with systemic treatment. This review article provides an overview of epidemiology, etiology, clinical manifestations, diagnostic approaches (including immunohistochemical and genetic markers), staging, and multidisciplinary approaches to current treatment for malignant pleural mesothelioma using surgery, chemotherapy, immunotherapy, and radiotherapy. It also sheds light on some recent studies (EMPHACIS, CALGB30901, Checkmate-743, <i>etc.</i>) that have led to significant developments in recent years with clinically meaningful results.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 3","pages":"91739"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309337","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":"Phytochemical analysis of <i>Tinospora cordifolia</i> and <i>Withania somnifera</i> and their therapeutic activities with special reference to COVID-19.","authors":"Prateek Rai, Tanya Garain, Deepshikha Gupta","doi":"10.5493/wjem.v14.i3.95512","DOIUrl":"10.5493/wjem.v14.i3.95512","url":null,"abstract":"<p><p>Various important medicines make use of secondary metabolites that are produced by plants. Medicinal plants, such as <i>Withania somnifera</i> and <i>Tinospora cordifolia</i>, are rich sources of chemically active compounds and are reported to have numerous therapeutic applications. The therapeutic use of medicinal plants is widely mentioned in Ayurveda and has folkloric importance in different parts of the world. The aim of this review is to summarize the phytochemical profiles, folkloric importance, and primary pharmacological activity of <i>W. somnifera</i> and <i>T. cordifolia</i> with emphasis on their action against the novel coronavirus.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 3","pages":"95512"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309338","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":"Anal carcinoma - exploring the epidemiology, risk factors, pathophysiology, diagnosis, and treatment.","authors":"Kevan J English","doi":"10.5493/wjem.v14.i3.98525","DOIUrl":"10.5493/wjem.v14.i3.98525","url":null,"abstract":"<p><p>Anal carcinoma is a relatively rare tumor that accounts for approximately 2% of gastrointestinal malignancies and less than 7% of anorectal cancers. Most anal tumors originate between the anorectal junction and the anal verge. Risk factors for the disease include human papillomavirus infection, human immunodeficiency virus, tobacco use, immunosuppression, female sex, and older age. The pathogenesis of anal carcinoma is believed to be linked to human papillomavirus-related inflammation, leading to dysplasia and progression to cancer. Squamous cell carcinoma is the most common type of anal tumor, with an annual incidence of approximately 1 to 2 per 100000 persons. Treatment regarding anal cancer has emerged over time. However, chemoradiation therapy remains the mainstay approach for early localized disease. Patients with metastatic disease are treated with systemic therapy, and salvage surgery is reserved for disease recurrence following chemoradiation. This article aims to provide background information on the epidemiology, risk factors, pathology, diagnosis, and current trends in the management of anal cancer. Future directions are briefly discussed.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 3","pages":"98525"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309330","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":"<i>SCN1A</i> rs6732655A/T polymorphism: Diagnostic and therapeutic insights for drug-resistant epilepsy.","authors":"Aroop Viswas, Pradeep K Dabla, Dharmsheel Shrivastav, Swapan Gupta, Manisha Yadav, Subhash Yadav, Bidhan Chandra Koner","doi":"10.5493/wjem.v14.i3.94999","DOIUrl":"10.5493/wjem.v14.i3.94999","url":null,"abstract":"<p><strong>Background: </strong>A significant subset of individuals with epilepsy fails to respond to currently available antiepileptic drugs, resulting in heightened mortality rates, psychosocial challenges, and a diminished quality of life. Genetic factors, particularly within the <i>SCN1A</i> gene, and the pro-inflammatory cytokine response is important in intricating the drug resistance in idiopathic epilepsy cases. In this extended study, we determined the correlation of rs6732655A/T single nucleotide polymorphism to understand the causative association of <i>SCN1A</i> gene with epilepsy drug resistance and inflammatory response.</p><p><strong>Aim: </strong>To find the correlation of <i>SCN1A</i> gene rs6732655A/T polymorphism with the drug-resistant epilepsy and inflammatory response.</p><p><strong>Methods: </strong>The study enrolled 100 age and sex-matched patients of both drug-resistant and drug-responsive epilepsy cases. We analysed the rs6732655A/T polymorphism to study its association and causative role in drug-resistant epilepsy cases using restriction fragment length polymorphism technique. The diagnostic performance of interleukin (IL)-1β, IL-6, and high mobility group box 1 (HMGB1) protein levels was evaluated in conjunction with genotypic outcome receiver operating characteristic analysis.</p><p><strong>Results: </strong>AT and AA genotypes of rs6732655 <i>SCN1A</i> gene polymorphism were associated with higher risk of drug resistance epilepsy. Serum biomarkers IL-6, IL1β and HMGB1 demonstrated diagnostic potential, with cutoff values of 4.63 pg/mL, 59.52 pg/mL and 7.99 ng/mL, respectively, offering valuable tools for epilepsy management. Moreover, specific genotypes (AA and AT) were found to be linked to the elevated levels of IL-1β and IL-6 and potentially reflecting increased oxidative stress and neuro-inflammation in drug-resistant cases supporting the previous reported outcome of high inflammatory markers response in drug resistance epilepsy.</p><p><strong>Conclusion: </strong>SCN1A genotypes AA and AT are linked to higher drug-resistant epilepsy risk. These findings underscore the potential influence of inflammation and genetics on epilepsy treatment resistance.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"14 3","pages":"94999"},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309327","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}