Coexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia

Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose- 1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of galactosemia has not been described earlier. Here we report a case of EHBA with concordant Duarte 1 and 2 variants of galactosemia in an infant with cholestasis. Genetic analysis of the index patient for galactosemia revealed presence of Duarte 1/Duarte 2 variants of galactosemia with genotype N314D-L218L/N314D-G1105C-GI391A- G1323A-5’UTR-119delGTCA. Clinical evaluation of the patient showed the presence of EHBA. Henceforth, it may be hypothesized that EHBA may have a genetic basis with simultaneous involvement of the GALT gene.

一种智能CAN总线接口设计

描述了一种智能CAN总线接口板卡的设计方案。从芯片的选型、系统结构、原理设计、底层实现、软件设计等方面介绍了设计方案。采用本地端智能控制CAN总线传输的方法,将数据协议传输层的控制放在本地,能够有效降低CPU的资源占有率,提高整个系统的性能,具有体积小、功耗低的特点,接口满足CAN2.0B协议要求,既能适应系统恶劣的工作环境,又进一步降低了系统的体积、功耗和系统成本。