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A mysterious cause of recurrent acute liver dysfunction for over a decade

Gastroenterology Report 2022年第1期10卷 622-624页

作者： Ahmet Burak Dirim Tugba Kalayci Merve Guzel Dirim Semra Demir Bilger Cavus asli cifcibasi ormeci Filiz Akyuz Sabahattin Kaymakoglu Division of Nephrology Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Division of Medical Genetics Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Department of Internal Medicine Istanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Division of Allergy and Immunology Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Division of Gastroenterology Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey

Introduction Acute liver failure(ALF)is an uncommon disease in pediatric *** includes infections,autoimmune diseases,inborn errors of metabolism,and *** disorders account for 25%of resolved ***,the etiology remains unknown in half of pediatric ALF[1].The recognition of molecular etiopathogenesis has been facilitated after the common use of next-generation sequencing ***,biallelic variants in neuroblastoma-amplified sequence(NBAS),Leucyl-tRNA synthetase 1(LARS1),and RAD50-interacting protein(RINT1)were identified in recurrent ALF(RALF)[2–4].

关键词： recurrent acute liver failure NBAS(neuroblastoma-amplified sequence) immunodysregulation clinical exome sequencing

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Risk factors associated with progression to intestinal complications of Crohn disease

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Chinese Medical Journal 2019年第20期132卷 2423-2429页

作者： Yusuf Kayar Bulent Baran asli cifcibasi ormeci Filiz Akyuz Kadir Demir Fatih Besisik Sabahattin Kaymakoglu Department of Gastroenterology Van Education and Research HospitalVan 65100Turkey Department of Gastroenterology Koc UniversityIstanbul 34100Turkey Department of Gastroenterology Istanbul UniversityIstanbul 34065Turkey

Background:Crohn disease is a chronic bowel disease that causes serious complications. Prevalence of Crohn disease is increasing. Studies have shown that the behavior of the disease is not stable and severe complications secondary to behavior change over time have been shown. In this study, we aimed to evaluate the prognostic risk factors associated with phenotypic change in Crohn disease in a Turkish patient ***:Patients followed up from March 1986 to August 2011 were evaluated for demographic and clinical characteristics to determine possible risk factors and initial clinical phenotype of the disease based on the Montreal classification. The cumulative probabilities of developing stricturing or penetrating intestinal complications were estimated using the Kaplan-Meier analysis. Univariate and multivariate Cox-proportional hazard models were used to assess associations between baseline clinical characteristics and intestinal ***:Three hundred and thirty patients (mean age, 30.6 ± 11.1 years;148 female) were included in the study. Mean follow-up duration was 7.4 ± 5.3 years (range: 1.0-25.0 years). At baseline 273 patients had inflammatory-type disease, 57 patients experienced stricturing/penetrating intestinal complications before or at the time of diagnosis. The cumulative probability of developing complicated disease was 37.4% at 5 years, 54.3% at 10 years, 78.8% at 25 years. Independent predictors associated with progression to intestinal complications were current smoking, perianal disease, extra-intestinal manifestations, and location of ***:Location of disease is the most powerful indicator for the development of stenosis and penetrating complications in inflammatory-type disease. Patients with ileal involvement should be considered for more aggressive immunosuppressive therapy.

关键词： complications involvement progression

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Current state and clinical outcome in Turkish patients with hepatocellular carcinoma

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World Journal of Hepatology 2018年第1期10卷 51-61页

作者： Omer Ekinci Bulent Baran asli cifcibasi ormeci Ozlem Mutluay Soyer Suut Gokturk Sami Evirgen Arzu Poyanli Mine Gulluoglu Filiz Akyuz Cetin Karaca Kadir Demir Fatih Besisik Sabahattin Kaymakoglu Department of Gastroenterohepatology Istanbul Faculty of Medicine Istanbul University Department of Internal Medicine Istanbul Faculty of Medicine Istanbul University Department of Gastroenterology Ko? University Hospital Department of Radiology Istanbul Faculty of Medicine Istanbul University Department of Pathology Istanbul Faculty of Medicine Istanbul University

AIM To investigate clinical, etiological, and prognostic features in patients with hepatocellular *** Patients with hepatocellular carcinoma who were followed-up from 2001 to 2011 were included in the study. The diagnosis was established by histopathological and/or radiological criteria. We retrospectively reviewed clinical and laboratory data, etiology of primary liver disease, imaging characteristics and treatments. ChildPugh and Barcelona Clinic Liver Cancer stage was determined at initial diagnosis. Kaplan-Meier survival analysis was done to find out treatment effect on survival. Risk factors for vascular invasion and overall survival were investigated by multivariate Cox regression analyses. RESULTS Five hundred and forty-five patients with hepatocellular carcinoma were included in the study. Viral hepatitis was prevalent and 68 patients either had normal liver or were non-cirrhotic. Overall median survival was 16(13-19) mo. Presence of extrahepatic metastasis was associated with larger tumor size(OR = 3.19, 95%CI: 1.14-10.6). Independent predictor variables of vascular invasion were AFP(OR = 2.95, 95%CI: 1.38-6.31), total tumor diameter(OR = 3.14, 95%CI: 1.01-9.77), and hepatitis B infection( OR = 5.37, 95 % CI : 1.23-23.39). Liver functional reserve, tumor size/extension, AFP level and primary treatment modality were independent predictors of overall survival. Transarterial chemoembolization(HR = 0.38, 95%CI: 0.28-0.51) and radioembolization(HR = 0.36, 95%CI: 0.18-0.74) provided a comparable survival benefit in the real life setting. Surgical treatments as resection and transplantation were found to be associated with the best survival compared with loco-regional treatments(log-rank, P < 0.001).CONCLUSION Baseline liver function, oncologic features including AFP level and primary treatment modality determines overall survival in patients with hepatocellular carcinoma.

关键词： Hepatocellular carcinoma Cirrhosis Alfafetoprotein Prognosis Treatment Survival

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