Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia.@*METHODS@#Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members.@*RESULTS@#Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.

Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).@*METHODS@#Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.@*CONCLUSION@#AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.

Research progress on pacemaker function of interstitial cells of Cajal in gastrointestinal tract / 中国病理生理杂志

[ ABSTRACT] Interstitial cells of Cajal ( ICC) is the pacemaker in the gastrointestinal tract , which is closely as-sociated with the formation of slow wave and the regulation of gastrointestinal motility .As the pacemaker of gastrointestinal tract, the activation of pacing signal is triggered by the local calcium oscillation in the ICC .The change of calcium concen-tration can activate many relevant ion channels , such as NSCC, ANO1, VGCC, HCN channels and potassium channels , which can generate a large number of pacing current to form the slow wave and then propagated by the gap junction between the ICC networks and smooth muscle cells to make the peristalsis of gastrointestinal tract in autonomic rhythm .However, the mechanism of these ion channels in the pacemaker activity is still unclear , so we refer to make a review about the re-search progress on these pacemaker channels in this article to illuminate the mechanism of pacemaker activity in ICC .

Application of endoscopic retrograde cholangiopancreatography in treatment of extrahepatic biliary adenoma / 临床肝胆病杂志

ObjectiveTo investigate the clinical features of extrahepatic biliary adenoma and the role of endoscopic retrograde cholangiopancreatography (ERCP) in the diagnosis and treatment of extrahepatic biliary adenoma. MethodsA retrospective analysis was performed for the clinical manifestations, imaging findings, ERCP treatment, and follow-up data of 7 patients with extrahepatic biliary adenoma who were admitted to Department of Gastroenterology in The People′s Hospital of Northern Jiangsu from January 2010 to June 2016. Results Selective ERCP was performed for 7 patients after the exclusion of surgical contraindications. Intraoperative cholangiography showed interruption of different parts of the bile duct, and brush cytology under the guidance of guide wire and bile duct biopsy with ultrafine biopsy forceps were performed for all patients. The pathological examination showed bile duct adenoma. Among these patients, 6 were treated with ERCP and 1 was treated with Roux-en-Y choledochojejunostomy after ERCP. ConclusionAs a minimally invasive examination, ERCP helps to determine the cause of the disease and evaluate patients′ condition. When patients have surgical contraindications or are not willing to choose surgery, ERCP can be used as palliative therapy to relieve their clinical symptoms.