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Z. Garoufalia A. Prodromidou N. Machairas I.D. Kostakis P. Stamopoulos N. Zavras I. Fouzas G.C. Sotiropoulos 《Transplantation proceedings》2019,51(2):443-445
Introduction
Wilson's disease (WD) is a rare autosomal recessive disorder transmitted through a gene located on chromosome 13. Liver transplantation (LT) provides a therapeutic option for patients with WD presenting fulminant liver failure or drug resistance. LT in patients with WD has a twofold aim: to save the patient's life when the disorder has progressed to hepatic (or other organ) failure and to cure the underlying metabolic defect. The aim of our study was to investigate the indications, aspects and post-operative outcomes in pediatric patients (<?18 years old) with WD who underwent LT.Methods
A meticulous search of the literature since 1971 was performed. A retrospective analysis of all the studies, presenting cases of LT in children due to WD, was conducted. Studies that did not report patients' characteristics, transplantation indications, post-operative outcomes, and complications, as well as those with small study populations (<?10 patients), were excluded.Results
Six studies were included in the present review, which involved 290 children. The main indications for LT included chronic liver failure and fulminant liver failure. The average 1-year survival rate was 91.9%, while the average 5-year survival rate was 88.2%. Retransplantation was performed in 16 patients due to transplant rejection. In general, patients transplanted for WD displayed an excellent quality of life after LT.Conclusion
LT is a safe and efficient procedure in selected pediatric patients with WD, demonstrating excellent long-term outcomes and quality of life. 相似文献94.
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Sonia Moreno-Grau Itziar de Rojas Isabel Hernández Inés Quintela Laura Montrreal Montserrat Alegret Begoña Hernández-Olasagarre Laura Madrid Antonio González-Perez Olalla Maroñas Maitée Rosende-Roca Ana Mauleón Liliana Vargas Asunción Lafuente Carla Abdelnour Octavio Rodríguez-Gómez Silvia Gil Miguel Ángel Santos-Santos Agustín Ruiz 《Alzheimer's & dementia》2019,15(10):1333-1347
IntroductionLarge variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways.MethodsGenome Research at Fundacio ACE ([email protected]) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, [email protected] series were meta-analyzed with additional genome-wide association study data sets.ResultsWe classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444.DiscussionThe regulation of vasculature is a prominent causal component of probable AD. [email protected] meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series. 相似文献
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