A mosaic mutation in the gene causing Bartter syndrome: A case report.

Background: Type III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the (chloride voltage-gated channel Kb) gene that encodes CLC-Kb. CLC-Kb is mainly located in the thick ascending limb of Henle's loop and regulates chloride efflux from tubular epithelial cells to the interstitium. Type III BS is characterized by metabolic alkalosis, renal salt wasting, hyperreninemia, and hyperaldosteronism with normal blood pressure.

Twin-Twin Transfusion Syndrome After Radiofrequency Ablation in Dizygotic Monochorionic Triamniotic Triplet Pregnancy With Sex Discordance: A Case Report.

Background: We report a case of dizygotic monochorionic triamniotic triplet pregnancy. Twin-twin transfusion syndrome was subsequently diagnosed combined with sex discordance in the two surviving fetuses after one fetus was reduced, which is extremely rare and has not been previously reported.

Case Presentation: After reducing one fetus by radiofrequency ablation of a monochorionic triamniotic triplet pregnancy, twin-twin transfusion syndrome was subsequently diagnosed combined with sex discordance in the two surviving fetuses.

Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies.

Background: Prenatal whole-exome sequencing (WES) is becoming increasingly used when karyotype and microarray tests are not diagnostic of fetal malformations. Although the value of WES clearly emerges in terms of higher diagnostic rates, the limitations of prenatal phenotyping together with the counseling challenges for variants of uncertain significance and incidental results suggest that the routine application of prenatal WES is not yet easy.

Methods: Structurally abnormal fetuses with a mean gestational age of 24 weeks (range 13-38 weeks) were recruited from the Chong Qing Health Center for Women and Children.

Individualized risk prediction of significant fibrosis in non-alcoholic fatty liver disease using a novel nomogram.

Background: Fibrosis is deemed to be a pivotal determinant of the long-term prognosis in non-alcoholic fatty liver disease (NAFLD).

Objective: We aimed to develop a novel nomogram-based non-invasive model to accurately predict significant fibrosis in patients with NAFLD.

Methods: We designed a prospective cohort study including 207 patients with biopsy-proven NAFLD.

Lifestyle interventions for patients with nonalcoholic fatty liver disease: a network meta-analysis.

Lifestyle interventions remain the first-line therapy for nonalcoholic fatty liver disease (NAFLD). This study aims to evaluate the individual impact of exercise and/or dietary interventions on the level of alanine aminotransferase (ALT), aspartate aminotransferase (AST), homeostasis model of assessment for insulin resistance index (HOMA-IR), and BMI. Randomized-controlled trials from patients diagnosed with NAFLD were included in the meta-analysis if they reported the associations between changes in ALT, AST, HOMA-IR, or BMI and types of lifestyle interventions.

Sodium butyrate exerts protective effect against Parkinson's disease in mice via stimulation of glucagon like peptide-1.

Sodium butyrate (NaB) has exhibited protective activity in neurological disorders. Here, we investigated the neuroprotective effect and potential mechanisms of NaB in a mouse model of Parkinson's disease (PD). A mouse was intraperitoneally treated with MPTP (30mg/kg) for 7 consecutive days to induce PD model and NaB (200mg/kg) was intragastrically treated for 3weeks.