摘要:

BackgroundA &bgr;-thalassemia intermedia phenotype can be caused by multiple genotypes.MethodsWe studied a family where the mother was hematologically normal and both father and daughter had &bgr;-thalassemia intermedia.ResultsBoth affected individuals were heterozygous for a codon 39CAG-to-TAG mutation. They also were heterozygous for a triplicate &agr;-globin gene locus (&agr;&agr;&agr;anti 3.7).ConclusionsThis compound heterozygous condition of a &bgr;39C-to-T mutation and triplicate &agr;-globin gene increases &agr;:&bgr;-globin chain imbalance and accounts for the presence of &bgr;-thalassemia intermedia. The proband received both an abnormal &bgr;-globin gene and a triplicate &agr;-globin locus from her father. Although the phenotype seems to be dominantly inherited, because of independent segregation of the &agr;- and &bgr;-globin genes, it is more accurately an example of polygenic inheritance.

ISSN:0002-9629    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

A case of multiple endocrine neoplasia type 1 (MEN 1) accompanied with Prader-Willi syndrome (PWS) was reported. Diagnosis of both diseases have been genetically confirmed. Delay in the diagnosis and management for PWS made surgery for endocrine tumors difficult. This is the first report on the concomitance of MEN 1 with PWS.

ISSN:0002-9629    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

A case of massive intracerebral hemorrhage, a rare but often fatal complication of amphetamine abuse, is described along with the review of the literature. There has been resurgence in the abuse of amphetamine. Amphetamine or other illicit drug abuse should be considered in young patients with cerebrovascular events.

ISSN:0002-9629    

出版商:OVID    

年代:1999

数据来源: OVID

ISSN:0002-9629    

出版商:OVID    

年代:1999

数据来源: OVID