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To investigate Mandarin Tone 2 production of disyllabic words of prelingually deafened children with a cochlear implant (CI) and a contralateral hearing aid (HA) and to evaluate the relationship between their demographic variables and tone-production ability. Thirty prelingually Mandarin-speaking preschoolers with CI+HA and 30 age-matched normal-hearing (NH) children participated in the study. Fourteen disyllabic words were recorded from each child. A total of 840 tokens (14 × 60) were then used in tone-perception tests in which four speech therapists participated. The production of T2-related disyllabic words of the bimodal group was significantly worse than that of the NH group, as reflected in the overall accuracy (88.57% ± 16.31% vs 99.29% ± 21.79%, p < 0.05), the accuracy of T1+T2 (93.33% vs 100%), the accuracy of T2+T1 (66.67 ± 37.91% vs 98.33 ± 9.13%), and the accuracy of T2+T4 (78.33 ± 33.95% vs 100%). In addition, the bimodal group showed significantly inferior production accuracy of T2+T1 than T2+T2 and T3+T2, p < 0.05. Both bimodal age and implantation age were significantly negatively correlated with the overall production accuracy, p < 0.05. For the error patterns, bimodal participants experienced more errors when T2 was in the first position of the tone combination, and T2 was most likely to be mispronounced as T1 and T3. Bimodal patients aged 3–5 have T2-related disyllabic lexical tone production defects, and their performances are related to tone combination, implantation age, and bimodal age. [ABSTRACT FROM AUTHOR]

Background: Congenital short‐bowel syndrome (CSBS) is a rare disorder characterized by retardation of intestinal development. However, it is still not well recognized at present. In this study, the etiological, clinical, and genetic characteristics of CSBS in China were analyzed. Methods: Nine infants with CSBS were recruited. Full‐thickness biopsy findings were evaluated by histopathology. Whole‐exome sequencing was performed to identify mutations in patients and their family members. All patients were followed up at >1 year of age. Results: Six of 9 infants had malrotation, and 2 patients had intestinal atresia. The average total small‐bowel length was 51.7 (40–75) cm. Coxsackie and adenovirus receptor‐like membrane protein (CLMP) mutations were found in 5 patients and were related to decreases in ileal goblet cells and mucous secretion. Among these 5 patients, 3 shared the same mutation (c. 206G>A p.R69H), 1 patient had an exon 3–5 deletion, and 1 patient had the C.655T>G, p.Cys219Gly, and C.389‐2A>C. Another case carried a loss‐of‐function mutation in filamin A (FLNA). In the other 3 patients, no pathogenic mutations in genes related to intestinal development were found. The rate of catheter‐related bloodstream infection was 4.3 per 1000 catheter days, and intestinal failure–associated liver disease (IFALD) was 77.8%. The median follow‐up duration was 24.1 months. Eight patients were weaned off parenteral nutrition (PN). Six patients still exhibited malnutrition during follow‐up. Conclusions: Infants with CSBS often need long‐term PN and remain at risk of SBS‐related complications. CLMP and FLNA mutations are associated with CSBS in the Chinese population. [ABSTRACT FROM AUTHOR]

Objectives: Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal disorder occurring in children, leading to failure to thrive, malnutrition, and long-term parenteral nutrition dependence. Enteric smooth muscle actin γ-2 (ACTG2) variants have been reported to be related to the pathogenesis of PIPO. This study aimed to determine the presence of ACTG2 variants in Chinese PIPO patients., Methods: Whole-exome sequencing was performed using samples from 39 recruited patients, whereas whole ACTG2 Sanger sequencing was performed using samples from 2 patients. Published data was reviewed to determine the number of pathogenic variants and the genotype related to ACTG2 variants in the Chinese population., Results: A total of 21 Chinese probands were found to carry heterozygous missense variants of ACTG2, among which 20 were de novo. Fifteen probands had p.Arg257 variants (c.770G>A and c.769C>T), and the other 2 probands had c.533G>A (p.Arg178His) and c.443G>T (p.Arg148Leu) variants. Four probands had novel variants c.337C>T (p.Pro113Ser), c.588G>C (p.Glu196Asp), c.734A>G (p.Asp245Gly), and c.553G>T (p.Asp185Tyr)., Conclusions: Variants affecting codon 257 of ACTG2 protein sequence appeared to be frequent in both Chinese and Caucasian PIPO patients, whereas p.Arg178 variants were less common in Chinese patients compared with Caucasian patients. The 4 novel variants in ACTG2 were also found to be related to Chinese PIPO., Competing Interests: The authors report no conflicts of interest., (Copyright © 2020 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Hirschsprung disease (HSCR) is the most frequent genetic cause of congenital intestinal obstruction with an incidence of 1:5000 live births. In a pathway-based epistasis analysis of data generated by genome-wide association study on HSCR, specific genotype of Patched 1 (PTCH1) has been linked to an increased risk for HSCR. The aim of the present study is to examine the contribution of genetic variants in PTCH1 to the susceptibility to HSCR in Han Chinese. Accordingly, we assessed 8 single nucleotide polymorphisms (SNPs) within PTCH1 gene in 104 subjects with sporadic HSCR and 151 normal controls of Han Chinese origin by the Sequenom MassArray technology (iPLEX GOLD). Two of the eight genetic markers were found to be significantly associated with Hirschsprung disease (rs357565, allele P = 0.005; rs2236405, allele P = 0.002, genotype P = 0.003). Both the C allele of rs357565 and the A allele of rs2236405 served as risk factors for HSCR. During haplotype analysis, one seven-SNP-based haplotype was the most significant, giving a global P = 0.0036. Our results firstly suggest common variations of PTCH1 may be involved in the altered risk for HSCR in the Han Chinese population, providing potential molecular markers for early diagnosis of Hirschsprung disease.