RESUMO
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome. Most syndromes have abnormal genetic material. An adequate knowledge of syndromic HSCR is of vital importance for accurate diagnosis and prognostic evaluation. This article reviews the clinical manifestations, genetic basis, and genetic modes of different types of syndromic HSCR.
Assuntos
Humanos , Doença de Hirschsprung , Classificação , Genética , SíndromeRESUMO
Volatile components of Lonicerae Japonicae Flos in bud stage extended type Beihua 1 were determined by the headspace solid-phase micro-extraction, compared with traditional cultivar Damaohua. There are fifty-two volatile compounds were identified and the relative content of the volatiles was calculated by the area normalization method. Thirty-nine compounds were found in Beihua 1, whereas thirty-three components in Damaohua. Total twenty identical compounds existed in Beihua 1 and Damaohua. The contents of alcohols and hydrocarbons of Beihua 1 were higher significantly than that of Damaohua, while significantly lower than that of Damaohua in ketones content. Besides, twenty components were only detected in Beihua 1, such as methyl nicotinate, hexadecanoic acid, methyl ester,acetophenone, nonanoic acid.
RESUMO
Objective: To clarify how the HQT gene regulates and controls the chlorogenic acid in eukaryotic cells of Lonicerae Flos by establishment of HQT gene eukaryotic expression system, construction and optimization of genetically modified tissue culture system. Methods: Using gateway cloning system to build HQT gene eukaryotic expression system, we genetically created engineered bacteria containing honeysuckle gene function HQT by Agrobacterium tumefaciens-mediated method. The successful transfection explants of callus induction were established and the HQT gene relative transcript level was amplified by semi-quantitative RT-PCR; The HPLC was used to determine the sample's content of chlorogenic acid, then the correlation between HQT gene polymorphism and content of chlorogenic acid was analyzed. Results: The content of chlorogenic acid in Lonicerae Flos callus quantity rises as its HQT gene expression. Conclusion: Honeysuckle HQT gene could regulate chlorogenic acid biosynthesis in eukaryotic cells.