Clinical and laboratory findings of 97 pediatric brucellosis patients in central Turkey

Brucellosis is a disease transmitted to humans by consumption of unpasteurized animal milk, or through direct contact with infected animals. The aim of this study was to evaluate clinical, laboratory findings of pediatric patients with brucellosis. Data of 97 patients diagnosed with brucellosis between January 2000 and December 2010 were evaluated retrospectively

Clinical and laboratory findings of 97 pediatric brucellosis patients in central Turkey

Brucellosis is a disease transmitted to humans by consumption of unpasteurized animal milk, or through direct contact with infected animals. The aim of this study was to evaluate clinical, laboratory findings of pediatric patients with brucellosis. Data of 97 patients diagnosed with brucellosis between January 2000 and December 2010 were evaluated retrospectively. Copyright (C) 2014, Taiwan Society of Microbiology. Published by Elsevier Taiwan LLC. All rights reserved

Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations

The aim of this study was to elucidate the pathologic sequence changes and associated clinical phenotypes in 9 new patients showing homozygosity for perforin gene among a total of 37 (24%) Turkish FHL families studied by linkage analysis. These 9 unrelated patients (5M/4F) were coming from consanguineous families and their presentation ages of systemic symptoms were ranged from birth to 15 years. Direct sequencing of coding exons of the perforin gene led to the identification of five different homozygous alterations. The nonsense W374X mutation was identified in three patients while four different missense mutations namely G149S, V50M, A91V and novel A523D were detected in the rest six patients. (c) 2007 Elsevier Ltd. All rights reserved

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II

Abstract CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.Wo