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Öğe Global epidemiology of acute kidney injury in hospitalized patients with cirrhosis: the ICA-GLOBAL AKI study(Elsevier, 2024) Patidar, Kavish; Ma, Ann Thu; Juanola, Adria; Barone, Anna; Incicco, Simone; Kulkarni, Anand; Luis Perez-Hernandez, Jose[No abstract available]Öğe PHENOTYPES, NATURAL COURSE, AND OUTCOMES OF ACUTE KIDNEY INJURY ( AKI) IN PATIENTS WITH ACUTE- ONCHRONIC LIVER FAILURE ( ACLF): RESULTS FROM THE ICA- GLOBAL AKI STUDY(Lippincott Williams & Wilkins, 2024) Sola, Elsa; Patidar, Kavish; Juanola, Adria; Ma, Ann; Barone, Anna; Incicco, Simone; Kulkarni, Anand[No abstract available]Öğe The global prospective observational study to evaluate the role of 'liver transplantation in patients with cirrhosis and severe acute-on-chronic liver failure (CHANCE)': study design, demographics and overall outcome(Elsevier, 2024) Gustot, Thierry; Bernal, William; Fernandez, Javier; Manuel Diaz, Juan; de la Pena-Ramirez, Carlos; Farias, Alberto; Zitelli, Patricia Momoyo[No abstract available]Öğe Real-world practice patterns on the use of terlipressin in patients with cirrhosis and acute kidney injury-results from the ICA-GLOBAL AKI study(Elsevier, 2024) Ma, Ann Thu; Juanola, Adria; Patidar, Kavish; Barone, Anna; Incicco, Simone; Kulkarni, Anand; Perez-Hernandez, Jose Luis[No abstract available]Öğe Impact of bacterial infections on kidney function and survival in patients with decompensated cirrhosis and acute kidney injury worldwide-analysis of the ICA-GLOBAL AKI study(Elsevier, 2024) Juanola, Adria; Patidar, Kavish; Ma, Ann Thu; Barone, Anna; Incicco, Simone; Kulkarni, Anand; Perez-Hernandez, Jose Luis[No abstract available]Öğe Excess waitlist mortality and survival benefit of liver transplantation for patients with severe acute-on-chronic liver failure: Interim results of the CHANCE study(Elsevier, 2024) Gustot, Thierry; Bernal, William; Fernandez, Javier; Manuel Diaz, Juan; de la Pena-Ramirez, Carlos; Farias, Alberto; Momoyo Zitelli, Patricia[No abstract available]Öğe Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series(Elsevier Science Inc, 2025) Harkness, J. Robert; Mcdermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.Background The reasons why some individuals have severe neuropathy following an infection are not known. Through the agnostic screening of children with acute axonal neuropathy after an infection, we identified several families with biallelic variants in RCC1. We aimed to describe the clinical phenotype of these patients, and the molecular and cellular pathology associated with the genetic variants identified in these families. Methods For this case series, we identified children affected by a severe, acute-onset axonal neuropathy following infection through an international research consortium of paediatric neurologists and clinical geneticists from nine countries (Canada, Cyprus, Czechia, Germany, Iran, Saudi Arabia, Slovakia, T & uuml;rkiye, and the UK). Clinical assessments included nerve conduction studies and neuroimaging. We did exome or genome sequencing in DNA samples from all patients. We characterised the proteins encoded by the genetic variants by use of thermal stability and enzymatic assays, using recombinantly expressed proteins. We assessed cellular protein transport under heat or oxidative stress by use of immunofluorescence in primary fibroblasts, obtained from patients. We generated a humanised Drosophila knock-in model to assess the effects of stress on the in vivo function of RCC1. Findings Between Nov 2, 2011, and July 10, 2024, we identified 24 individuals from 12 families who had severe, acute-onset axonal neuropathy following infection (13 female and 11 male patients, with a mean age at diagnosis of 1 year 10 months [SD 227]). Eight biallelic missense variants in RCC1 were identified in affected individuals with autosomal recessive inheritance. Patients had variable phenotypes, ranging from rapidly progressive fatal axonal neuropathy to mild motor neuropathy with impaired walking. Neurological presentation was often secondary to an infection, resulting in initial misdiagnoses of Guillain-Barr & eacute; syndrome in several patients. 15 children had disease recurrence. The disease was fatal in 15 patients. The RCC1 variants in these patients code for proteins that alter GDP-to-GTP exchange activity and have reduced thermal stability in vitro. In primary fibroblasts, heat shock or oxidative stress revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model of the disease revealed a fatal intolerance to oxidative stress. Interpretation We describe an autosomal recessive, acute-onset paediatric axonal neuropathy, seemingly triggered by infection, that affects individuals with biallelic RCC1 variants. In these children, the disease can mimic Guillain-Barr & eacute; syndrome. The pathological mechanisms underlying this novel axonal neuropathy might overlap with those of amyotrophic lateral sclerosis. Cellular studies indicate that RCC1 variants affect nucleocytoplasmic transport, which is crucial for healthy axonal function. Future studies should be directed at pre-symptomatic treatment by exploring ways to maintain nucleocytoplasmic transport. Copyright (c) 2025 Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.Öğe ASSESSMENT OF CHARACTERISTICS AND TREATMENT PATTERNS OF ADULT PATIENTS WITH ACQUIRED APLASTIC ANAEMIA IN TURKIYE (PLANE-TR STUDY)(Springernature, 2025) Gunduz, Eren; Ulas, Turgay; Ozkalemkas, Fahir; Toprak, Selami Kocak; Karakulak, Elifcan Aladag; Ar, Muhlis Cem; Gulbas, Zafer[No abstract available]Öğe GLOBAL SOCIOECONOMIC DISPARITIES AFFECT ACUTE KIDNEY INJURY OUTCOMES IN HOSPITALIZED PATIENTS WITH CIRRHOSIS: AN ANALYSIS OF THE INTERNATIONAL CLUB OF ASCITES GLOBAL AKI STUDY(Lippincott Williams & Wilkins, 2024) Patidar, Kavish; Ma, Ann; Juanola, Adria; Barone, Anna; Incicco, Simone; Kulkarni, Anand; Perez Hernandez, Jose Luis[No abstract available]Öğe Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study(Karger, 2024) Cayir, Atilla; Turan, Serap; Eklioglu, Beray Selver; Bayramoglu, Elvan; Unal, Edip; Yildiz, Melek; Acar, Sezer[No abstract available]Öğe De novo malignancies after liver transplantation: multicenter study a preliminary report(Lippincott Williams & Wilkins, 2024) Danis, N.; Akarsu, M.; Harputluoglu, M.; Yilmaz, S.; Adanir, H.; Dincer, D.; Turan, D.[No abstract available]Öğe Demographic, Clinical, and Radiological Characteristics of Familial Multiple Sclerosis: A Multicenter Retrospective Study from Turkiye(Sage Publications Ltd, 2025) Bilge, Nuray; Demirdogen, Filiz; Aksoy, Durdane; Gokce, Seyda Figul; Yetkin, Mehmet Fatih; Ethemoglu, Ozlem; Tuncel, Deniz[No abstract available]Öğe Survival rates of paediatric dialysis patients up to 5 years in Turkey: Finding from National database(Springer, 2024) Aksoy, Gulsah Kaya; Akman, Sema; Kaciroglu, Fatih; Aksu, Bagdagul; Bulut, Ipek Kaplan; Cakici, Evrim Kargin; Erfidan, Gokcen[No abstract available]Öğe Lack of standart approach for Epstein-Barr virus DNAemia in pediatric kidney transplant recipients: a multicenter questionnaire(Springer, 2024) Tasdemir, Mehmet; Ozdemir, Gulsah; Akaci, Okan; Parmaksiz, Gonul; Saygili, Seha; Alparslan, Caner; Bulum-Akbulut, Burcu[No abstract available]Öğe Are the results of clinical trials in patients with NSCLC reflected in real life? The Registurk-Lung study(Lippincott Williams & Wilkins, 2024) Artac, Mehmet; Yildirim, Mahmut Emre; Sumbul, Ahmet Taner; Ozturk, Akin; Karadurmus, Nuri; Koral, Lokman; Demirci, Umut[No abstract available]Öğe In silico analyses of rare CFTR variants from The Turkish National Cystic Fibrosis Patient Registry to predict their functional effects(Wiley, 2025) Kara, A. S.; Yavuz, B. Capraz; Sen, V.; Sen, H. Selimoglu; Celebi, O.; Oztosun, B.; Korkmaz, C.[No abstract available]Öğe Developments in Treatment of Non-Small Cell Lung Cancer and Their Implications for National Practice. Registurk-Lung National Registry Study(Elsevier Science Inc, 2025) Hacibekiroglu, I.; Cubukcu, E.; Kus, T.; Bayoglu, V; Okten, I. N.; Harputluoglu, H.; Ozcelik, M.[No abstract available]Öğe Acute liver injury with autoimmune features following SARS-CoV-2 vaccination in an ERN/IAIHG cohort: autoimmune hepatitis versus drug-induced autoimmune-like hepatitis(Elsevier, 2024) Malino, Donald; Codoni, Greta; Kirchner, Theresa; Engel, Bastian; Villamil, Alejandra; Efe, Cumali; Ozlem, Elpek Gulsum[No abstract available]Öğe Biallelic Variants in ARHGAP19 Cause a Progressive Inherited Motor-Predominant Neuropathy-An Update(Wiley, 2025) Dominik, Natalia; Efthymiou, Stephanie; Record, Chris; Miao, Xinyu; Lin, Renee; Parmar, Jevin; Scardamaglia, Annarita[No abstract available]Öğe Evaluation of tusamitamab ravtansine, a CEACAM5-targeting antibody drug conjugate, in non-squamous NSCLC participants with negative or moderate CEACAM5 expression and high circulating CEA: Results from phase II CARMEN-LC06 trial(Elsevier Science Inc, 2025) Lena, H.; Paz-Ares, L.; Harputluoglu, H.; Wauters, E.; Rossi, S.; Ozguroglu, M.; Helissey, C.[No abstract available]
