Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency.

Combined with the literature, recognize the clinical features and molecular genetic mechanism of the disease. 17a-hydroxylase/17,20-lyase deficiency, a rare form of congenital adrenal hyperplasia, is caused by mutations in the cytochrome P450c17 gene (CYP17A1), and characterized by hypertension, hypokalemia, female sexual infantilism or male pseudohermaphroditism. We presented the clinical and biochemical characterization in two patients (a 13 year-old girl (46, XX) with hypokalemia and lack of pubertal development, a 11 year-old girl (46, XY) with female external genitalia and severe hypertension).

CORRELATION OF SERUM VITAMIN D LEVEL WITH TYPE 1 DIABETES MELLITUS IN CHILDREN: A META-ANALYSIS.

Objective: to assess the relationship between serums vitamin D level and type 1 diabetes mellitus (T1DM) in children.

Methods: the following electronic databases were searched until Sep 2014 to identify relevant studies that assessed the relationship between serum vitamin D with T1DM: PubMed\EMbase\Medline\Central Register of Controlled Trials\CBM\Chinese National Knowledge Infrastructure (CNKI)\wangfang; The NOS scale was used to evaluate the quality of studies, and the statistical tests were performed by Stata 11.0 software.

Apoptotic genes expression in placenta of clubfoot-like fetus pregnant rats.

Objective: To investigate the apoptotic gene expression of placenta in an all-trans-retinoic acid (ATRA) induced fetus congenital clubfoot pregnant rat model.

Methods: Sprague-Dawley (SD) rats were divided randomly into ATRA-exposed group and control group. On day 10 of pregnancy, a dose of 120 mg/kg ATRA dissolved in mineral oil was given intragastrically to the rats in the ATRA-exposed group and equivalent volume of mineral oil was given intragastrically to the control rats.

Inner cyst approach, remove bronchial cervical cyst.

Although most cystic lesions in young adults represent a branchial cleft cyst, the bronchial cervical cyst is not rare (Acta Oto-Laryngologica 2010;130:300). Surgical excision is both diagnostic and curative and also eliminates the risk of infection or recurrence. As we have all known, it is hard to protect some important structures in an inflamed tissue, especially in infants.