| 1 | Induced pluripotent stem cells for modeling neurological disorders显示文摘Several diseases have been successfully modeled since the development of induced pluripotent stem cell(i PSC) technology in 2006. Since then, methods for increased reprogramming efficiency and cell culture maintenance have been optimized and many protocols for differentiating stem cell lines have been successfully developed, allowing the generation of several cellular subtypes in vitro. Gene editing technologies have also greatly advanced lately, enhancing disease-specific phenotypes by creating isogenic cell lines, allowing mutations to be corrected in affected samples or inserted in control lines. Neurological disorders have benefited the most from i PSC-disease modeling for its capability for generating disease-relevant cell types in vitro from the central nervous system, such as neurons and glial cells, otherwise only available from post-mortem samples. Patient-specific i PSC-derived neural cells can recapitulate the phenotypes of these diseases and therefore, considerably enrich our understanding of pathogenesis, disease mechanism and facilitate the development of drug screening platforms for novel therapeutic targets. Here, we review the accomplishments and the current progress in human neurological disorders by using i PSC modeling for Alzheimer's disease, Parkinson's disease, Huntington's disease, spinal muscular atrophy, amyotrophic lateral sclerosis, duchenne muscular dystrophy, schizophrenia and autism spectrum disorders, which include Timothy syndrome, Fragile X syndrome, Angelman syndrome, Prader-Willi syndrome, PhelanMc Dermid, Rett syndrome as well as Nonsyndromic Autism. | Fabiele B Russo Fernanda R Cugola Isabella R Fernandes Graciela C Pignatari Patricia C B Beltrão-Braga | 2015 | World Journal of Transplantation2015，5，4： | 4 |
| 3 | Hemolytic uremic syndrome in adults: A case report显示文摘Thrombotic microangiopathies(TMA) are microvascular occlusive disorders characterized by platelet aggregation and mechanical damage to erythrocytes, clinically characterized by microangiopatic haemolytic anemia, thrombocytopenia and organ injury. We are reporting a case of a woman patient with severe hemolytic uremic syndrome associated to infectious diarrhoea caused by Shiga toxin-producing pathogen, who were admitted to our intensive care unit. The patient described developed as organ injury, neurological failure and acute renal failure, with need of haemodialysis technique. Due to the severity of the case and the delay in the results of the additional test that help us to the final diagnose, we treated her based on a syndromic approach of TMA with plasma exchange, with favourable clinical evolution with complete recovery of organ failures. We focus on the syndromic approach of these diseases, because thrombotic thrombocytopenic purpura, one of the disorders that are included in the syndromes of TMA, is considered a haematological urgency given their high mortality without treatment; and also review the TMA in adults: Their pathogenesis, management and outcomes. | Fabiel Gerardo Pérez-Cruz Patricia Villa-Díaz María Consuelo Pintado-Delgado María Loreto Fernández_Rodríguez Ana Blasco-Martínez María Pérez-Fernández | 2017 | World Journal of Critical Care Medicine2017，6，2： | 0 |
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