ABSTRACT
OBJECTIVE: To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy. METHODS: Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals. RESULTS: The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls. CONCLUSION: X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.
Subject(s)
Adrenoleukodystrophy , Adrenoleukodystrophy/genetics , Asian People/genetics , China , Female , Genetic Testing , Humans , Male , Mutation , PedigreeABSTRACT
OBJECTIVE: To understand the status of chemotherapy and assistance for advanced schistosomiasis patients in Xinjian County, 2005-2009. METHODS: The data of chemotherapy and assistance for patients with advanced schistosomiasis in Xinjian County from 2005 to 2009 were collected and analyzed statistically by using The Information Management System for Advanced Schistosomiasis Chemotherapy and Assistance in Jiangxi Province. RESULTS: Among 636 cases, the sex ratio of male to female was 1.19: 1, and the average age was 61.52 +/- 11.2 years old. Ascites was the main symptoms of patients (93.71%), and the percentage of splenectomized ones was 32.38% among them. The IHA-positive rate, HBsAg-positive rate and repeat treatment rate were 31.6%, 24.37% and 44.50%, respectively. The clinical cure rate, recovery rate and death rate were 43.53%, 55.94% and 5.97%, respectively. CONCLUSION: The advanced schistosomiasis chemotherapy and assistance improves the symptoms and life quality of these patients.
