Journal of Clinical and Experimental Hepatology最新文献

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Biliary Atresia: A Meta-analysis of Indian Studies 胆道闭锁:印度研究的荟萃分析
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-28 DOI: 10.1016/j.jceh.2025.103156
Akshit Vats , Alka Bhatia , Yashwant Kumar
{"title":"Biliary Atresia: A Meta-analysis of Indian Studies","authors":"Akshit Vats ,&nbsp;Alka Bhatia ,&nbsp;Yashwant Kumar","doi":"10.1016/j.jceh.2025.103156","DOIUrl":"10.1016/j.jceh.2025.103156","url":null,"abstract":"<div><div>Biliary atresia (BA) is a leading cause of neonatal cholestasis and a major reason for pediatric liver transplantation (LT). Despite its clinical importance, research from the Indian subcontinent has historically been sparse and fragmented. Using a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)–guided search, we identified 702 records and analyzed 64 eligible studies, most of which examined clinical features, surgical outcomes particularly after Kasai portoenterostomy, and short-term prognosis. Most existing research remains clinical, radiological, or laboratory based, with considerable variability across findings. Substantial gaps were noted, particularly in understanding disease mechanisms, etiopathogenesis, and diagnostic advancements.</div><div>This highlights the need for more focused, conceptually driven, and collaborative efforts. To advance understanding and care of BA in the Indian context, future research must incorporate multidisciplinary approaches, including molecular, genetic, and public health perspectives. By building on the growing interest and solid clinical foundation, India is well positioned to develop a cohesive, forward-looking research framework that addresses current gaps and fosters innovation in the diagnosis, management, and long-term outcomes of BA.</div></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"16 1","pages":"Article 103156"},"PeriodicalIF":3.2,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145097772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From Tiny Acorns do Mighty Oaks Grow! 小橡子长成大橡树!
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-27 DOI: 10.1016/j.jceh.2025.103180
Vivek A. Saraswat
{"title":"From Tiny Acorns do Mighty Oaks Grow!","authors":"Vivek A. Saraswat","doi":"10.1016/j.jceh.2025.103180","DOIUrl":"10.1016/j.jceh.2025.103180","url":null,"abstract":"","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"15 6","pages":"Article 103180"},"PeriodicalIF":3.2,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145117937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transjugular Intrahepatic Portosystemic Shunt Related Hepatic Encephalopathy in Cirrhotics With Refractory Ascites: Incidence and Correlation With TIPS Stent Diameter and Pre-TIPS Sarcopenia 肝硬化合并难治性腹水的经颈静脉肝内门静脉系统分流相关肝性脑病:TIPS支架直径和TIPS前肌少症的发生率和相关性
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-27 DOI: 10.1016/j.jceh.2025.103125
Amar Mukund , Vritika Bhardwaj , Ankur Jindal , Yashwant Patidar , Shiv K. Sarin
{"title":"Transjugular Intrahepatic Portosystemic Shunt Related Hepatic Encephalopathy in Cirrhotics With Refractory Ascites: Incidence and Correlation With TIPS Stent Diameter and Pre-TIPS Sarcopenia","authors":"Amar Mukund ,&nbsp;Vritika Bhardwaj ,&nbsp;Ankur Jindal ,&nbsp;Yashwant Patidar ,&nbsp;Shiv K. Sarin","doi":"10.1016/j.jceh.2025.103125","DOIUrl":"10.1016/j.jceh.2025.103125","url":null,"abstract":"<div><h3>Objectives</h3><div>Aims of this study were to compare the incidence of hepatic encephalopathy (HE) in 8 mm and 10 mm transjugular intrahepatic portosystemic shunt (TIPS) stent, the predictive factors for HE, and to assess the change in muscle quantity and quality after TIPS.</div></div><div><h3>Methods</h3><div>A retrospective cross-sectional study of patients who underwent elective TIPS placement between 2012 and 2022 was conducted. A total of 535 patients were assessed for eligibility, of which 253 patients were excluded and 282 were included for analysis. HE was defined based on predefined criteria and the incidence was calculated. Parameters in HE and non-HE groups were compared to identify predictive factors, and predictive models were developed.</div></div><div><h3>Results</h3><div>Complete or near-complete resolution of ascites was significantly higher (<em>P</em>-value 0.005) and stent block or dysfunction requiring reintervention was lower with 10 mm stent (<em>P</em>-value 0.005). However, the incidence of HE was higher in 10 mm (49/282, 63.6%) as compared to 8 mm group (28/282, 36.4%) (<em>P</em>-value 0.459; nonsignificant). Patients with post-TIPS HE had low skeletal muscle index (SMI), psoas muscle index (PMI), and psoas muscle attenuation (PMA) (<em>P</em> &lt; 0.001) while intramuscular attenuation coefficient (IMAC) was high (<em>P</em> &lt; 0.001). There was significant improvement in SMI, PMI, and PMA after TIPS, while IMAC and liver stiffness measurement (LSM) showed a significant decrease. PMI, PMA, history of prior HE, and Model For End-Stage Liver Disease (MELD) were identified as independent predictors for HE. A model was devised based on these parameters with a predictive value of 71.3 percent.</div></div><div><h3>Conclusion</h3><div>10 mm-TIPS stent was associated with better ascites control at the cost of an increased incidence of HE. Prediction for post-TIPS HE may be done using PMI, PMA, history of prior HE, and MELD. TIPS may lead to improvement in the status of muscle quantity and quality, thus reducing the probability of HE.</div></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"16 1","pages":"Article 103125"},"PeriodicalIF":3.2,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145097769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Budd–Chiari Syndrome and Pregnancy—A Review Budd-Chiari综合征与妊娠a综述
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-26 DOI: 10.1016/j.jceh.2025.103176
Suprabhat Giri , Sayan Malakar , Shradhanjali Sahoo , Taraprasad Tripathy , Ranjan K. Patel , Dibya L. Praharaj , Anil Chandra Anand
{"title":"Budd–Chiari Syndrome and Pregnancy—A Review","authors":"Suprabhat Giri ,&nbsp;Sayan Malakar ,&nbsp;Shradhanjali Sahoo ,&nbsp;Taraprasad Tripathy ,&nbsp;Ranjan K. Patel ,&nbsp;Dibya L. Praharaj ,&nbsp;Anil Chandra Anand","doi":"10.1016/j.jceh.2025.103176","DOIUrl":"10.1016/j.jceh.2025.103176","url":null,"abstract":"<div><div>Pregnancy is a hypercoagulable state, increasing the risk of venous thrombosis, including Budd–Chiari syndrome (BCS). Historically, pregnancy was contraindicated in BCS due to risks like hepatic dysfunction, thrombosis, bleeding, and poor fetal outcomes. However, better diagnostic modalities, greater awareness, and treatment advances, such as anticoagulant therapy, endovascular interventions like hepatic vein angioplasty with or without stenting, transjugular intrahepatic portosystemic shunt (TIPS), and liver transplantation (LT), have enabled more favorable outcomes. When BCS presents during pregnancy, diagnosis can be challenging, often mimicking other pregnancy-related liver conditions. Doppler ultrasonography is the preferred diagnostic tool during pregnancy, with cross-sectional imaging reserved for doubtful cases and planning intervention. Anticoagulation is the cornerstone of medical therapy for BCS diagnosed in pregnancy, preventing thrombus progression. Radiological interventions like hepatic vein stenting and TIPS are options, particularly for those not responding to medical therapy, though radiation exposure is a consideration, and dose-reduction strategies are employed. LT is a consideration for acute liver failure, with good maternal but suboptimal fetal outcomes. For women with pre-existing BCS planning pregnancy, preconceptional management is crucial. This includes individualized risk assessment, optimizing BCS treatment, and screening for thrombophilia. Delayed diagnosis, advanced age, and progression to cirrhosis may all contribute to infertility in BCS, which need to be considered. However, successful BCS treatment can improve fertility and pregnancy outcomes. Antenatal, perinatal, and postpartum management requires careful monitoring of liver function, portal hypertension, anticoagulation, and fetal well-being, aimed at preventing complications like hemorrhage. Proactive management significantly improves the prognosis for pregnancy in BCS patients.</div></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"16 1","pages":"Article 103176"},"PeriodicalIF":3.2,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145097770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Therapeutic Plasma Exchange in Patients With Acute Liver Failure: A Pilot Randomized Controlled Trial 血浆置换治疗急性肝衰竭患者:一项随机对照试验
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-26 DOI: 10.1016/j.jceh.2025.103178
Shekhar Swaroop , Sagnik Biswas , Sarthak Saxena , Shobhit Garg , Shubham Jain , Poonam Coshic , Hem Chandra Pandey , Vijay Andriyas , Sapna Chopra , Suhasini Sil , Shruti Rohilla , Arnav Aggarwal , Ayush Agarwal , Samagra Agarwal , Baibaswata Nayak , Shalimar
{"title":"Therapeutic Plasma Exchange in Patients With Acute Liver Failure: A Pilot Randomized Controlled Trial","authors":"Shekhar Swaroop ,&nbsp;Sagnik Biswas ,&nbsp;Sarthak Saxena ,&nbsp;Shobhit Garg ,&nbsp;Shubham Jain ,&nbsp;Poonam Coshic ,&nbsp;Hem Chandra Pandey ,&nbsp;Vijay Andriyas ,&nbsp;Sapna Chopra ,&nbsp;Suhasini Sil ,&nbsp;Shruti Rohilla ,&nbsp;Arnav Aggarwal ,&nbsp;Ayush Agarwal ,&nbsp;Samagra Agarwal ,&nbsp;Baibaswata Nayak ,&nbsp;Shalimar","doi":"10.1016/j.jceh.2025.103178","DOIUrl":"10.1016/j.jceh.2025.103178","url":null,"abstract":"<div><h3>Background/Aims</h3><div>Acute liver failure (ALF) is a life-threatening condition with high short-term mortality without liver transplantation (LT). Prior studies on therapeutic plasma exchange (TPE) have yielded mixed survival results. In this randomized controlled trial (RCT), we evaluated the safety and efficacy of TPE on the 30-day outcomes in ALF.</div></div><div><h3>Methods</h3><div>In this single-center, open-label, pilot RCT, 40 adults with ALF were randomized in a 1:1 ratio to receive either standard medical therapy (SMT) alone or SMT plus TPE. TPE was performed daily for up to five days or stopped as per the predefined criteria (improvement in hepatic encephalopathy or the development of shock or sepsis), using standard-volume centrifugation-based with a 1:1 fresh frozen plasma and albumin replacement. The primary outcome was 30-day mortality. Secondary outcomes included changes in biochemical parameters and adverse events.</div></div><div><h3>Results</h3><div>Median age was 24 (20-28) years; 57.5% were female; 57.5% had viral hepatitis–related ALF. Among TPE-assigned patients, 14 of 20 received ≥1 sessions. Thirty-day mortality was identical in both arms (65%; intention-to-treat, <em>P</em> = 1.000), with similar results on per-protocol analysis (TPE: 78.6% vs SMT: 65.0%, <em>P</em> = 0.393). By day 3, TPE recipients showed greater reductions in bilirubin (<em>P</em> = 0.002), international normalized ratio (<em>P</em> = 0.013), and ammonia (<em>P</em> = 0.340), but survival was unchanged. Rates of infection and electrolyte disturbances were similar. TPE was not independently associated with survival (hazard ratio: 0.92, 95% confidence interval [CI]: 0.43-1.99, <em>P</em> = 0.83).</div></div><div><h3>Conclusion</h3><div>In our study, standard-volume TPE led to transient biochemical improvements but did not improve 30-day transplant-free survival. Future large, adequately powered multicentric RCTs are needed to clarify the potential role of TPE in ALF. This trial was prospectively registered with the Clinical Trials Registry of India (CTRI/2017/08/009525).</div></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"16 1","pages":"Article 103178"},"PeriodicalIF":3.2,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variceal Bleeding Due to Single-tremelimumab Regular-interval Durvalumab: Immunotherapy Induced or Cirrhosis Driven? 常规间隔杜伐单抗单抗引起的静脉曲张出血:免疫治疗诱导还是肝硬化驱动?
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-26 DOI: 10.1016/j.jceh.2025.103175
Vamshi K. Ankam , Srujana Priya, Arif M. Khan, Manu Tandon, Mithun Sharma, Padaki N. Rao, Duvvur N. Reddy, Anand V. Kulkarni
{"title":"Variceal Bleeding Due to Single-tremelimumab Regular-interval Durvalumab: Immunotherapy Induced or Cirrhosis Driven?","authors":"Vamshi K. Ankam ,&nbsp;Srujana Priya,&nbsp;Arif M. Khan,&nbsp;Manu Tandon,&nbsp;Mithun Sharma,&nbsp;Padaki N. Rao,&nbsp;Duvvur N. Reddy,&nbsp;Anand V. Kulkarni","doi":"10.1016/j.jceh.2025.103175","DOIUrl":"10.1016/j.jceh.2025.103175","url":null,"abstract":"","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"16 1","pages":"Article 103175"},"PeriodicalIF":3.2,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145097852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
First Indian Case of Wilson's Disease With a Chinese-specific ATP7B Variant: Clinical and Genetic Insights 首例带有中国特异性ATP7B变异的印度威尔逊氏病病例:临床和遗传见解
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-23 DOI: 10.1016/j.jceh.2025.103174
Mukesh Kumar , Srishti Sharma , Sidharth S., Divyani Garg, Binukumar BK
{"title":"First Indian Case of Wilson's Disease With a Chinese-specific ATP7B Variant: Clinical and Genetic Insights","authors":"Mukesh Kumar ,&nbsp;Srishti Sharma ,&nbsp;Sidharth S.,&nbsp;Divyani Garg,&nbsp;Binukumar BK","doi":"10.1016/j.jceh.2025.103174","DOIUrl":"10.1016/j.jceh.2025.103174","url":null,"abstract":"","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"16 1","pages":"Article 103174"},"PeriodicalIF":3.2,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145047788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Placebo Effect on Changes in Magnetic Resonance-based Endpoints in Patients With MASH: Systematic Review and Meta-analysis 安慰剂效应对MASH患者磁共振终点变化的影响:系统评价和荟萃分析
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-23 DOI: 10.1016/j.jceh.2025.103173
Matheus Souza , Lubna Al-Sharif , Samira M. Khalil , Ivanna Diaz
{"title":"Placebo Effect on Changes in Magnetic Resonance-based Endpoints in Patients With MASH: Systematic Review and Meta-analysis","authors":"Matheus Souza ,&nbsp;Lubna Al-Sharif ,&nbsp;Samira M. Khalil ,&nbsp;Ivanna Diaz","doi":"10.1016/j.jceh.2025.103173","DOIUrl":"10.1016/j.jceh.2025.103173","url":null,"abstract":"<div><h3>Background and aims</h3><div>Magnetic resonance (MR)-based techniques are increasingly being used in early-phase trials of metabolic dysfunction-associated steatohepatitis (MASH) as a noninvasive alternative to liver histology for assessing drug efficacy. Understanding the placebo effect in MR-based endpoints is essential for interpreting results and designing future trials. We conducted a systematic review and meta-analysis to quantify the placebo response and identify its modifiers in MR-based endpoints.</div></div><div><h3>Methods</h3><div>We systematically searched PubMed and the Cochrane Library through December 13, 2024 for phase ≥2 randomized controlled trials (RCTs) comparing pharmacologic agents with placebo in adults with MASH that provided MR-based assessments. Pooled placebo response rates were estimated using generalized linear mixed models with Clopper–Pearson intervals.</div></div><div><h3>Results</h3><div>We included 21 RCTs comprising 800 placebo-treated patients. A clinically meaningful relative reduction in liver fat (≥30% relative reduction in magnetic resonance imaging [MRI] proton density fat fraction [MRI-PDFF]) was observed in 19.21% (95% CI: 16.23 to 22.59; I<sup>2</sup> = 7.2%) of placebo patients. The pooled placebo response rates for liver fat normalization (≥5% absolute reduction in MRI-PDFF) and MRI-PDFF super-response (≥50% relative reduction in MRI-PDFF) were 17.19% (95% CI: 11.70 to 24.56; I<sup>2</sup> = 27.9%) and 6.14% (95% CI: 2.63 to 13.69; I<sup>2</sup> = 12.9%), respectively. Reductions in liver stiffness (≥15% relative reduction by magnetic resonance elastography) and fibro-inflammation (corrected T1 response by multiparametric MRI) occurred in 26.09% (95% CI: 18.14 to 35.98; I<sup>2</sup> = 15.1%) and 13.43% (95% CI: 7.14 to 23.85; I<sup>2</sup> = 0%), respectively.</div></div><div><h3>Conclusions</h3><div>Placebo-treated patients with MASH show significant improvements across MR-based endpoints with low heterogeneity. These data support the potential reproducibility of MR-based endpoints in assessing treatment efficacy in MASH and should be considered in future trial design.</div></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"15 6","pages":"Article 103173"},"PeriodicalIF":3.2,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145044485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Markedly Low Prevalence of Fatty Liver Despite Obesity in Prader–Willi Syndrome: A Search for Protective Genetic Markers 在Prader-Willi综合征中,尽管肥胖,但脂肪肝的患病率明显较低:对保护性遗传标记的研究
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-22 DOI: 10.1016/j.jceh.2025.103155
Omer Murik , Varda Gross-Tsur , Tzvia Mann , David A. Zeevi , Saja Baraghithy , Gheona Altarescu , Joseph Tam , Harry J. Hirsch , Eyal Shteyer
{"title":"Markedly Low Prevalence of Fatty Liver Despite Obesity in Prader–Willi Syndrome: A Search for Protective Genetic Markers","authors":"Omer Murik ,&nbsp;Varda Gross-Tsur ,&nbsp;Tzvia Mann ,&nbsp;David A. Zeevi ,&nbsp;Saja Baraghithy ,&nbsp;Gheona Altarescu ,&nbsp;Joseph Tam ,&nbsp;Harry J. Hirsch ,&nbsp;Eyal Shteyer","doi":"10.1016/j.jceh.2025.103155","DOIUrl":"10.1016/j.jceh.2025.103155","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common liver disease across all age groups and is associated with significant morbidity and mortality. The pathogenesis of the disease is not fully understood, but genetic factors appear to play a major role in the development of MASLD. Prader–Willi syndrome (PWS) is a neurogenetic, multisystem disorder characterized primarily by hyperphagia, leading to uncontrolled eating and severe obesity. Despite the high prevalence of severe obesity in PWS, MASLD is relatively rare. The aim of this study was to assess whether single-nucleotide variants (SNVs) known to be associated with MASLD may play a role in the development of MASLD in individuals with PWS.</div></div><div><h3>Patients and methods</h3><div>Using targeted amplicon-next-generation sequencing, we studied DNA from 142 individuals (69 females), with a median age of 17.5 years, with genetically confirmed PWS, and genotyped 13 SNVs that were previously associated with a high risk for MASLD.</div></div><div><h3>Results</h3><div>Body mass index (BMI) z-score was 2.1 9IQR: 1.42, 2.490, and the median alanine aminotransferase and aspartate aminotransferase were 18 (IQR: 14, 25) units/L and 24 (IQR: 19, 32) units/L, respectively. Five of the 13 SNVs showed significantly lower frequencies of the risk allele in our cohort compared to frequencies reported in the general population. The cumulative risk score for all 13 SNVs was significantly lower in our cohort of PWS patients compared to the healthy population (FDR-adjusted <em>P</em>-value, 1.85 × 10<sup>−5</sup>).</div></div><div><h3>Conclusions</h3><div>We identified genetic factors that may protect patients with PWS from developing MASLD. These findings may contribute to understanding the pathogenesis of MASLD in individuals with nonsyndromic obesity.</div></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"16 1","pages":"Article 103155"},"PeriodicalIF":3.2,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145047787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dubin–Johnson Syndrome: An Eight-Year Retrospective Clinicopathological Review from a North Indian Tertiary Center 杜宾-约翰逊综合征:来自北印度三级中心的八年回顾性临床病理回顾
IF 3.2
Journal of Clinical and Experimental Hepatology Pub Date : 2025-08-22 DOI: 10.1016/j.jceh.2025.103159
Subashini Harikrishnakumar , Dipanwita Biswas , Suvradeep Mitra , Arka De , Lileswar Kaman , Usha Dutta , Ajay Duseja , Ashim Das
{"title":"Dubin–Johnson Syndrome: An Eight-Year Retrospective Clinicopathological Review from a North Indian Tertiary Center","authors":"Subashini Harikrishnakumar ,&nbsp;Dipanwita Biswas ,&nbsp;Suvradeep Mitra ,&nbsp;Arka De ,&nbsp;Lileswar Kaman ,&nbsp;Usha Dutta ,&nbsp;Ajay Duseja ,&nbsp;Ashim Das","doi":"10.1016/j.jceh.2025.103159","DOIUrl":"10.1016/j.jceh.2025.103159","url":null,"abstract":"<div><h3>Background and aims</h3><div>Dubin–Johnson syndrome (DJS) is an uncommon disease with a characteristic clinical and biochemical profile, rarely requiring diagnostic liver biopsy. Indian data on the clinicopathological spectrum of DJS are scant. The study is aimed at the analysis of the clinical context for liver biopsy, histological spectrum, utility of special stains, and multidrug resistance-associated protein 2 (MRP2) immunohistochemistry in DJS.</div></div><div><h3>Materials and methods</h3><div>The clinical presentation, hematological, and biochemical parameters of all biopsy-proven cases of DJS in the last eight years (N = 15, 16 biopsies) were gleaned from the archives. All biopsies were stained with routine hematoxylin and eosin stain, various special stains, MRP2, bile salt export pump, and CK7 immunostains.</div></div><div><h3>Results</h3><div>The median age of presentation of DJS was 26.5 years (interquartile range [IQR]: 19–60.5 years). Nine of 15 patients (60%) had an additional liver disorder (chronic viral hepatitis, non-cirrhotic portal fibrosis, cirrhosis, etc). One-third of the cases were diagnosed on histology alone (clinically unsuspected). All cases showed conjugated hyperbilirubinemia (median total bilirubin: 5.1 mg/dL, IQR: 4.3–8.1 mg/dL) with normal liver enzymes and hemogram. All biopsies showed centrilobular-dominant deposition of pseudomelanin pigment in the hepatocytes and Kupffer cells. MRP2 immunostain showed complete loss of (85.7%)/partial canalicular (14.3%) expression.</div></div><div><h3>Conclusion</h3><div>The clinical features of DJS are often obscured/altered by a coexistent liver disease necessitating liver biopsy. Histological documentation of the pigment by a panel of special stains is required for diagnosis. Loss of canalicular MRP2 expression complements special stains when pigment is scant and should be considered in diagnostically challenging biopsies.</div></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":"15 6","pages":"Article 103159"},"PeriodicalIF":3.2,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145044475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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