BMC Gastroenterology最新文献

{"title":"An incidental heterozygous ATP7B nonsense variant leading to a diagnostic pitfall for Wilson disease: a pediatric case report.","authors":"Zhongqiang Xu, Junfeng Tang","doi":"10.1186/s12876-026-05159-9","DOIUrl":"https://doi.org/10.1186/s12876-026-05159-9","url":null,"abstract":"<p><strong>Background: </strong>Wilson disease (WD) is an autosomal recessive disorder caused by pathogenic variants in ATP7B, resulting in impaired copper transport and progressive copper accumulation, most prominently affecting the liver. With the growing use of genetic testing, incidental detection of ATP7B pathogenic/likely pathogenic variants in individuals without typical hepatic phenotypes can prompt overdiagnosis and unnecessary investigations. This case highlights the importance of interpreting a single heterozygous ATP7B variant in the context of phenotype and a standardized biochemical diagnostic pathway for WD.</p><p><strong>Case presentation: </strong>A 13-year-old Han Chinese boy presented with recurrent brief paroxysmal attacks for > 1 year, markedly worsened over the preceding month. Episodes were triggered by rising from sitting, characterized by transient postural instability with unilateral head deviation and ipsilateral dystonic/choreiform movements, lasted ~ 10 s, and resolved spontaneously. Consciousness was preserved, with no incontinence, convulsions, or postictal symptoms. Interictal neurological examination was normal. Ambulatory EEG monitoring captured three typical attacks without epileptiform discharges or ictal EEG correlates, and brain MRI was unremarkable. A slit-lamp examination revealed no Kayser-Fleischer ring. A low serum copper level (9.43 µmol/L; reference 10.50-29.90) prompted further evaluation; genetic testing incidentally identified a heterozygous ATP7B variant (NM_000053.4:c.2851 C > T; p.Gln951Ter), reported as likely pathogenic. WD was considered. However, ceruloplasmin was normal (231.6 mg/L; reference 200.0-420.0 mg/L), ceruloplasmin oxidase activity measured by the p-phenylenediamine method was normal (0.372 OD; reference > 0.200 OD), liver biochemistry was normal (ALT 11 U/L, AST 16 U/L, GGT 14 U/L; bilirubin within reference range), and abdominal ultrasound showed a normal liver and biliary tree. Crucially, a follow-up quantitative 24-hour urinary copper test was strictly normal, and parental segregation analysis confirmed that the ATP7B variant represented a paternally inherited heterozygous state without biochemical evidence of Wilson disease, making active Wilson disease highly unlikely.</p><p><strong>Conclusions: </strong>This case illustrates a critical diagnostic pitfall: incidental heterozygous ATP7B variants can trigger severe diagnostic anchoring bias. To prevent overdiagnosis, genetic findings must be subordinated to strict phenotype-driven evaluations, formal Leipzig scoring, and definitive biochemical gold standards.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parabacteroides distasonis ameliorates methylphenidate hydrochloride-induced colonic inflammatory responses and associated gastrointestinal distress.","authors":"Jinwen Yao, Xia Gao, Lin Zhu, Linlin Wang, Qian Chen, Weijuan Liang, Huaili Feng, Ting You, Changli Wei, Yuqi Liu, Hongyang Zhang, Chengzhi Chen, Li Chen","doi":"10.1186/s12876-026-05079-8","DOIUrl":"https://doi.org/10.1186/s12876-026-05079-8","url":null,"abstract":"<p><strong>Background: </strong>Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in childhood, with methylphenidate hydrochloride (MPH) as its first-line pharmacotherapy. Though effective, MPH is associated with underrecognized gastrointestinal adverse events warranting further investigation. Recently, the gut microbiota has attracted attention for treating gastrointestinal distress, but research on its role in alleviating MPH-induced gastrointestinal reactions remains scarce.</p><p><strong>Methods: </strong>Herein, Wistar-Kyoto rats (WKY) served as controls alongside spontaneously hypertensive rats (SHR) to explore MPH-induced gastrointestinal adverse drug reactions. The gastrointestinal phenotypes, colonic histopathological characteristics, and inflammatory factor levels were evaluated, and the gut microbiota profiles were analyzed via 16S rRNA gene sequencing. The protective effect of Parabacteroides distasonis (P. distasonis) was further verified by supplementing the treated rats with this strain.</p><p><strong>Results: </strong>We demonstrated MPH induced diarrhea and colonic inflammatory responses in rats. 16S rRNA gene amplicon sequencing revealed that MPH-treated rats had significantly decreased gut microbiota health index, increased dysbiosis index, and reduced P. distasonis abundance, suggesting MPH-induced gastrointestinal reactions may correlate closely with reduced P. distasonis. Further experiments confirmed that P. distasonis supplementation effectively alleviated diarrhea and colonic inflammatory responses in MPH-treated rats.</p><p><strong>Conclusions: </strong>Collectively, this is the first study verifying that P. distasonis supplementation mitigates MPH-induced gastrointestinal adverse reactions, providing a novel intervention strategy to improve tolerance of ADHD pharmacotherapy.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated carbon dioxide in exhaled breath induces false-positive DOB results during Helicobacter pylori detection with ¹³C-urea breath test using infrared spectroscopy.","authors":"Wentao Fan, Yuwen Tao, Jinjin Shi, Zixiang Huang, MeiHong Chen, Guoxin Zhang, Bo Hao, Feng Ye","doi":"10.1186/s12876-026-05169-7","DOIUrl":"https://doi.org/10.1186/s12876-026-05169-7","url":null,"abstract":"<p><strong>Background: </strong>The urea breath test (UBT) detects Helicobacter pylori (H. pylori) by measuring ¹³CO₂ in exhaled air after the ingestion of a ¹³C-urea metabolized by bacterial urease. However, the influence of CO₂ concentrations in exhaled breath on UBT results remains unclear. This study aimed to evaluate the effect of varying exhaled CO₂ levels on the outcomes of infrared spectroscopy-based ¹³C-UBT.</p><p><strong>Methods: </strong>Six volunteers confirmed to be H. pylori-negative via ¹³C-UBT and stool antigen assay were enrolled. All participants completed overnight fasting and oral rinsing before specimen collection, followed by standardized breath sampling with three breath-holding durations (5 s, 10 s, and 20 s). Baseline samples were collected at 0 min, followed by a 30-min rest without ¹³C-urea administered, then test samples were collected. Following each sampling cycle, participants rested with spontaneous quiet breathing for 20-30 s before performing the next breath-holding procedure. Each participant completed 30 sampling cycles, yielding 30 paired baseline-test samples per individual. CO₂ concentrations and delta over baseline (DOB) values were measured using three independent infrared spectrometers under calibration settings of 5.0 and 6.0. A DOB value ≥ 4 was defined as a positive result. High CO₂ was defined as a test-sample CO₂ concentration greater than or equal to the corresponding calibration concentration plus 0.2.</p><p><strong>Results: </strong>A total of 180 paired baseline-test datasets were included in the analysis. At calibration concentrations of 5.0, positive results were observed in 104 of 118 high CO₂ datasets (88.14%; 95% exact CI, 80.90%-93.36%), whereas none of the 62 low CO₂ datasets showed positive result (0.00%; 95% exact CI, 0.00%-5.78%). At a calibration concentration of 6.0, positive results occurred in 20 of 26 high-CO₂ datasets (76.92%; 95% exact CI, 56.35%-91.03%), whereas all 154 low CO₂ datasets tested negative (0.00%; 95% exact CI, 0.00%-2.37%). Sample-level Fisher's exact tests were significant at both settings (both P < 0.001).</p><p><strong>Conclusion: </strong>Elevated CO₂ concentrations may be associated with false-positive DOB results in infrared spectroscopy-based ¹³C-UBT, particularly when test-bag CO₂ exceeds the calibration value by more than 0.2 units. Monitoring of exhaled CO₂ during specimen collection is essential to guarantee accurate results.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endoscopic variceal ligation-induced ulcer bleeding: incidence by indication, real-world treatment, and outcomes.","authors":"Thomas Vasilakis, Simon Schauer, Donata Grajecki, Alexander Wree, Christian Jürgensen, Frank Tacke, Cornelius Engelmann","doi":"10.1186/s12876-026-05141-5","DOIUrl":"10.1186/s12876-026-05141-5","url":null,"abstract":"<p><strong>Purpose: </strong>Endoscopic variceal ligation (EVL) - induced ulcer bleeding is a rare but potentially life-threatening complication. While the incidence following elective and emergency EVL has been reported, semi-elective procedures performed during hospitalization for acute decompensation of cirrhosis have not been separately examined. Additionally, real-world data on endoscopic treatment strategies, hemostasis rates and outcomes are scarce.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study analyzing all ligation procedures performed in adults with portal hypertension and esophageal varices at Charité University Hospital, Campus Virchow and Campus Mitte, from 01/01/2016 until 06/30/2023. We assessed incidence and risk factors by ligation indication, described endoscopic treatment strategies and analyzed predictors of 5-day rebleeding and 6-week mortality.</p><p><strong>Results: </strong>Among 1,864 EVLs, 61 (3.3%) resulted in EVL-induced ulcer bleeding; 60 were analyzed. Incidence varied significantly by indication: 0.44% after elective, 8.5% after emergency and 15.9% after semi-elective EVL. Repeat ligation was the most common endoscopic treatment (32.4%), followed by fibrin glue (14.7%) and balloon tamponade (11.7%); the overall primary hemostasis rate was 82.8%. Ten patients (16.7%) underwent TIPS. The 5-day rebleeding rate was 25% and the 6-week mortality rate 41.7%. Multivariate logistic regression analysis revealed that 5-day rebleeding (OR: 8.05; 1.66-39.2; p = 0.01) and post-bleeding sepsis (OR 7.27; 1.15-45.73; p = 0.035) were strongly associated with 6-week mortality.</p><p><strong>Conclusions: </strong>Semi-elective EVL carries 45-fold higher odds for EVL-induced ulcer bleeding. Endoscopic hemostasis is achievable, but early rebleeding and post-bleeding sepsis drive mortality, suggesting that considering early TIPS in high-risk patients and preventing sepsis deserve more attention.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13397640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148583512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Granular cell tumor of the pancreas mimicking pancreatic ductal adenocarcinoma: a case report.","authors":"Mátyás Béndek, Raffaella Pozzi-Mucelli, Carlos Fernández Moro, Stefan Gilg","doi":"10.1186/s12876-026-05155-z","DOIUrl":"10.1186/s12876-026-05155-z","url":null,"abstract":"<p><strong>Background: </strong>Granular cell tumor (GCT) is a benign Schwannian neoplasm that only exceptionally arises in the pancreas. Because of its infiltrative growth pattern, pancreatic GCT may radiologically mimic pancreatic ductal adenocarcinoma (PDAC).</p><p><strong>Case presentation: </strong>A 38-year-old woman with Birt-Hogg-Dubé syndrome underwent magnetic resonance imaging as part of surveillance and was found to have an enhancing lesion causing ductal stricture at the junction of the pancreatic corpus and cauda. Computed tomography raised a strong suspicion of pancreatic ductal adenocarcinoma. The patient underwent distal pancreatectomy. Histologic examination revealed a 12-mm poorly circumscribed infiltrative tumor composed of sheets and nests of polygonal cells with abundant eosinophilic granular cytoplasm and small uniform nuclei. It extended along interlobular septa and encased small pancreatic ducts, providing a morphologic correlate for the ductal stricture seen on imaging. Periodic acid-Schiff with diastase (PAS-D) stain demonstrated diffuse intracytoplasmic diastase-resistant granules. Tumor cells showed diffuse expression of S100 protein, SOX10 and inhibin A, while neuroendocrine markers were negative. The findings were consistent with a granular cell tumor.</p><p><strong>Conclusion: </strong>Pancreatic granular cell tumor is a rare benign lesion that may present with imaging findings highly suspicious for PDAC. Its infiltrative growth pattern may closely mimic carcinoma on imaging and may lead to surgical resection for presumed malignancy. To our knowledge, pancreatic granular cell tumor has not previously been reported in association with Birt-Hogg-Dubé syndrome; whether this represents a coincidental finding remains uncertain.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13397612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148583465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Skeletal muscle metastasis from gastric carcinoma: a systematic review of published case reports and case series over six decades.","authors":"Srikanth Thiyagarajan, Mahalakshmi N, Abhishek Reji","doi":"10.1186/s12876-026-05119-3","DOIUrl":"https://doi.org/10.1186/s12876-026-05119-3","url":null,"abstract":"<p><strong>Background: </strong>Skeletal muscle metastasis (SMM) from gastric carcinoma is exceptionally rare despite the extensive vascularity and mass of skeletal muscles. The true prevalence remains unknown, and existing knowledge is limited to isolated case reports.</p><p><strong>Objective: </strong>To systematically review all reported cases of SMM arising from gastric carcinoma, summarize clinical features, diagnostic approaches, imaging characteristics, treatments, and outcomes, and highlight gaps in existing literature.</p><p><strong>Methods: </strong>A comprehensive literature search was conducted across PubMed, Embase, Scopus, and Google Scholar from inception to January 2025, following PRISMA guidelines. All case reports or case series describing biopsy-confirmed skeletal muscle metastasis from gastric carcinoma were included.</p><p><strong>Results: </strong>A total of 31 fully documented cases were identified from 30 published studies spanning 1960-2025. Patients ranged in age from 30 to 80 years, with a male predominance. Skeletal muscle metastases most commonly involved the thigh, gluteal, paraspinal, and abdominal wall muscles. Patients typically presented with painful, enlarging intramuscular masses that were frequently misdiagnosed as abscesses or soft-tissue sarcomas. Magnetic resonance imaging (MRI) and positron emission tomography-computed tomography (PET-CT) were the most sensitive imaging modalities, while histopathological examination remained the gold standard for diagnosis. Most lesions were associated with poorly differentiated adenocarcinoma or signet-ring cell carcinoma. Survival data were available for 18 of the 31 patients; among these, the mean survival following the diagnosis of skeletal muscle metastasis was 7.7 months, with a median survival of 4.0 months (range, 0.6-30 months), indicating a poor overall prognosis.</p><p><strong>Conclusion: </strong>SMM from gastric carcinoma is extremely rare but Despite its rarity, skeletal muscle metastasis should be considered in patients with gastric carcinoma presenting with new painful intramuscular masses, particularly during postoperative surveillance. Early recognition using MRI or PET-CT followed by histopathological confirmation may facilitate timely multidisciplinary management, although the prognosis remains poor.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interaction between microvascular invasion and early recurrence of hepatocellular carcinoma in cirrhosis patients with curative liver resection: a retrospective cohort study.","authors":"Yuanming Qiang, Binwei Duan","doi":"10.1186/s12876-026-05148-y","DOIUrl":"https://doi.org/10.1186/s12876-026-05148-y","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the independent effects and potential effect modification by liver function reserve on the prognostic value of MVI for early recurrence in patients with hepatocellular carcinoma (HCC) arising from cirrhosis following curative liver resection (CLR).</p><p><strong>Methods: </strong>A retrospective cohort study was conducted, consecutively enrolling 120 patients who underwent CLR with histopathologically confirmed HCC arising from cirrhosis between January 2021 and December 2023. MVI status (positive/negative) was determined based on postoperative pathological reports. Preoperative clinical data were used to assess Child-Pugh class (A/B). The primary endpoint was early tumor recurrence within 24 months post-surgery. A multivariate Cox model incorporating an effect modification between MVI and Child-Pugh class was constructed to evaluate their potential effect modification.</p><p><strong>Results: </strong>A total of 120 patients were included, of whom 54 (45.0%) were MVI-positive. Early recurrence occurred in 50 patients (41.67%). MVI positivity (HR = 4.00), tumor size > 5 cm, anatomical liver resection, and Edmondson grade III-IV were identified as independent risk factors for early recurrence. A significant effect modification between MVI and Child-Pugh class was observed (interaction HR = 0.11, 95% CI: 0.03-0.40, P = 0.001), which remained stable after bootstrap internal validation. The risk effect of MVI positivity was strongest in patients with Child-Pugh class A, whereas this effect was significantly attenuated in patients with Child-Pugh class B. Based on this interaction, patients were stratified into low-risk, low-intermediate risk, high-intermediate risk, and high-risk groups. The high-risk group exhibited a significantly increased risk of recurrence compared to the low-risk group.</p><p><strong>Conclusion: </strong>A risk assessment model integrating MVI status and Child-Pugh class may help stratify patients. The prognostic value of MVI appears to be modified by liver function reserve, with the strongest effect observed in patients with well-preserved liver function (Child-Pugh A). These findings suggest potential value for personalized postoperative management, pending further validation.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and functional characterization of a novel SERPIND1 variant in a family with isolated gastric varices and venous thrombosis.","authors":"Xue-Yan Lin, Li-Jin Zhang, Jian-Hui Zhang, Ruo-Li Wang, Li-Fang Lin, Gui-Fang Huang, Dan-Dan Ruan, Zhi-Hai Zheng, Jie-Wei Luo, Ming-Hong Chen","doi":"10.1186/s12876-026-05163-z","DOIUrl":"https://doi.org/10.1186/s12876-026-05163-z","url":null,"abstract":"<p><strong>Background: </strong>Isolated gastric varices type I (IGV1) is a rare but severe manifestation of splenic vein thrombosis. While thrombophilia is a recognized cause, the underlying genetic determinants are often elusive. This study investigates the case of a proband presenting with IGV1, deep vein thrombosis (DVT), and Long QT syndrome Type 2 (LQT2), aiming to elucidate the genetic basis and functional impact of the identified SERPIND1 variants.</p><p><strong>Methods: </strong>Whole-exome sequencing identified candidate variants in the proband, which were validated by Sanger sequencing. Functional assessment included quantifying SERPIND1 and KCNH2 mRNA in proband and control blood, analyzing heparin cofactor Ⅱ (HCⅡ) protein expression and localization in transfected 293T cells, and predicting the potential structural consequences of the variants using bioinformatic tools.</p><p><strong>Results: </strong>The proband, a 31-year-old female, presented with isolated gastric fundal varices and a history of deep venous thrombosis (DVT), along with long QT syndrome type 2 (LQT2). Whole-exome sequencing (WES) identified two heterozygous variants, both confirmed by Sanger sequencing: a de novo SERPIND1 c.940 C > T (p.Arg314Trp) variant, classified as Pathogenic according to ACMG guidelines (PS2, PS3, PM2_Supporting, PP3), and a KCNH2 c.1707 C > A (p.Tyr569*) variant, also classified as Pathogenic (PVS1, PP1, PM2_Supporting) and showing familial co-segregation. The SERPIND1 variant was associated with reduced HCⅡ antigen levels and activity in plasma. In vitro assays revealed that both variants led to significantly reduced SERPIND1 and KCNH2 mRNA expression. In transfected cells, the SERPIND1 p.Arg314Trp variant markedly decreased HCⅡ protein levels and possibly induced aberrant nuclear mislocalization. Structural modeling suggested that the Arg314Trp substitution disrupts a key hydrogen bond within HCⅡ, while the KCNH2 p.Tyr569* nonsense variant is predicted to generate a truncated protein.</p><p><strong>Conclusion: </strong>The SERPIND1 c.940 C > T (p.Arg314Trp) variant is associated with reduced HCⅡ expression and functional impairment, which may contribute to a prothrombotic tendency in this patient. This study provides a hypothesis-generating observation supporting a potential role of HCⅡ deficiency in venous thrombosis and IGV1. The KCNH2 variant was accounted for the coexisting LQT2 phenotype.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical value of C-reactive protein as a predictor of conversion of laparoscopic cholecystectomy to open surgery: a systematic review and meta-analysis.","authors":"Hassan Abuali, Mohamed Mudawi, Ibrahim Fagiri, Osman S Elhassan, Abdalla O Abdalla, Ahmed Fikry Mohamed, Sagad O O Mohamed","doi":"10.1186/s12876-026-05167-9","DOIUrl":"https://doi.org/10.1186/s12876-026-05167-9","url":null,"abstract":"<p><strong>Background: </strong>Laparoscopic cholecystectomy is the gold standard for gallbladder disease, yet conversion to open surgery remains a challenge. Unplanned conversion from laparoscopic cholecystectomy to open surgery is associated with increased morbidity and potential patient safety risks. Accurate preoperative predictors may improve surgical planning and enhance patient safety. This meta-analysis evaluates the utility of preoperative C-reactive protein (CRP) as an objective biomarker for risk stratification.</p><p><strong>Methods: </strong>A systematic review was conducted according to PRISMA guidelines. The search was performed in PubMed, Web of Science, and Scopus. We included studies reporting preoperative CRP in converted vs. non-converted laparoscopic cholecystectomy cases. Pooled standardized mean differences (SMD) and odds ratios (OR) were calculated using random-effects meta-analysis models using R version 4.3.3.</p><p><strong>Results: </strong>Eleven studies were included. The primary SMD analysis comprised 11 studies and a secondary analysis included 5 studies reporting per-unit OR. Patients requiring conversion had significantly higher preoperative CRP levels (SMD = 1.09, 95% CI: 0.77-1.41, p < 0.001). Each one-unit increase in CRP was significantly associated with a higher conversion risk (OR: 1.012; 95% CI 1.005-1.018; p = 0.004); the equivalent OR per 10 mg/L was 1.127 (95% CI: 1.051-1.209).</p><p><strong>Conclusion: </strong>This meta-analysis demonstrated an association between elevated preoperative CRP and increased risk of conversion from laparoscopic to open cholecystectomy. CRP measurement may aid preoperative risk stratification when interpreted alongside clinical context.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real world clinical practice patterns in nocturnal GERD management: insights from nationwide RELIEF survey.","authors":"Sandip Pal, G Manoharan, Prashant Bhandarkar, P Manohar Reddy, Atul Shende, R S Arun, Balaji Laxminarayana Shetty B, Saptarshi Bishnu, Sanjeeb Roy, Sucheta Mehta, Namita Ghag, Apurva Jawdekar, Aniket Vaidya","doi":"10.1186/s12876-026-05084-x","DOIUrl":"https://doi.org/10.1186/s12876-026-05084-x","url":null,"abstract":"<p><strong>Background and objectives: </strong>Nocturnal symptoms of GERD interfere with daytime functioning, work, and social activities, thereby negatively affecting health-related quality of life. Therefore, the present survey aimed to evaluate the clinical practice patterns regarding the management of nocturnal GERD in India.</p><p><strong>Methods: </strong>A digital questionnaire-based nationwide RELIEF survey was conducted among health care practitioners (HCPs) with gastroenterology practice across India. Physicians voluntarily responded to the survey questionnaire consisting of 24 questions based on their clinical experience. Following the collection of completed questionnaires, data were reviewed and analyzed.</p><p><strong>Results: </strong>Of the 500 HCPs who were approached, 498 completed the study. GERD contributed to > 30% of patient burden every month. According to 25.30% of HCPs, 21-30% of patients with GERD complain of nocturnal symptoms. The most common risk factors in patients with nocturnal GERD were late-night meals (67.67%), followed by smoking (51%), BMI > 25 kg/m² (50.20%), and a high-fat diet (50.40%). Most HCPs (83%) relied on symptoms and medical history to diagnose nocturnal GERD. A single-dose proton pump inhibitor (PPI) regimen was the most preferred treatment, reported by 31.53% of HCPs, with esomeprazole preferred by 54% of physicians. Efficacy (58.03%), minimum or no drug-drug interactions (29.92%), and cost (22.49%) are the important aspects for choosing a PPI. HCPs (63.18%) opted for 4-8 weeks of PPI therapy to achieve resolution of nocturnal GERD symptoms, followed by 3-6 months of maintenance therapy (57.95%). Common causes of non-adherence to PPIs, as reported by 80.72% of HCPs, were stopping treatment once symptoms improved (53.01%), cost (39.56%), and incomplete disease awareness (29.92%). Most of the HCPs (42.77%) reported no side effects with the use of PPIs.</p><p><strong>Conclusion: </strong>The survey highlighted key insights into managing nocturnal GERD in India, with nearly one-fourth of GERD patients reporting nocturnal symptoms like heartburn and regurgitation, emphasizing the need for lifestyle modifications and suitable pharmacological interventions. The management strategy primarily includes PPI therapy, with esomeprazole being the preferred choice for nocturnal GERD.</p>","PeriodicalId":9129,"journal":{"name":"BMC Gastroenterology","volume":"26 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}