Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.

Aim The prevalence of congenital cerebral palsy (CP) worldwide ranges from 0.15 to 0.4%. CP causes several gastrointestinal complications that inhibit normal eating behavior. This single-center observational study aimed to determine the tolerability and benefits of percutaneous endoscopic gastrostomy (PEG) in pediatric CP patients with malnutrition. Materials and Methods The study included 41 pediatric CP patients with malnutrition. All patient data were retrospectively obtained from Bakırköy Dr. Sadi Konuk Research and Training Hospital, Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Istanbul, Turkey. In addition to baseline measurements of weight, height, triceps skinfold thickness, 1,25-hydroxyvitamin D3, folate, iron, zinc, vitamin B12, hemoglobin, and mean corpuscular volume, data analyzed included follow-up measurements recorded at 3 and 6 months of PEG (standard polymeric enteral supplementation as 1.0 kcal mL^–1). Results There was significant improvement in both height, weight, and triceps skinfold thickness in all patients at 3 and 6 months of PEG (p < 0.05). In terms of blood parameters, there was not significant improvement, except that the number of patients with a low hemoglobin count significantly decreased at 3 and 6 months of (p = 0.022). Moreover, the number of patients with vomiting after PEG also significantly decreased at 3 and 6 months of (p = 0.004). Conclusion PEG significantly improves malnutrition in pediatric CP patients and does not cause any major complications. Based on these findings, we think PEG is a beneficial and cost-effective intervention with a high rate of tolerability in pediatric CP patients with malnutrition. All authors contributed to the conception and design of the work, interpretation of data, drafting the work, and revising it critically for important intellectual content. H.A.C. and G.B. contributed to retrospective acquisition of the data. All authors validate the final approval of the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. The authors declare there are no financial or otherwise—related to the material presented herein. This study was conducted according to the guidelines laid down in the Declaration of Helsinki and all procedures involving research study participants were approved by the Bakirköy Dr. Sadi Konuk Research and Training Hospital Ethics Committee (decision number 2019–23–11, dated 25/11/2019). Written informed consent was obtained from all patients. Received: 03 December 2020 Accepted: 11 April 2021 Publication Date: 30 June 2021 (online) © 2021. Thieme. All rights reserved. Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

Civan HA, et al. Pediatr Gastroenterol Hepatol Nutr. 2016 Sep;19(3):207-209. https://doi.org/10.5223/pghn.2016.19.3.207

Tufting enteropathy (TE) is caused by recessive EPCAM mutations, and is characterized by intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally requires parenteral nutrition (PN) during childhood or intestinal bowel transplantation. We report three unrelated families with six children with TE. We highlight the high rate of disease-related mortality. We observe adequate weight gain with PN, but low to normal and stunted body length, supporting the recent notion that a short stature might be intrinsic to TE. The diagnosis of TE in the index patients from each family was delayed for months to years, even when clinical data, duodenal biopsies, or exome sequencing data were obtained early on. We identified three novel pathogenic EPCAM variants: a deletion of exon 1 that removes the ATG initiation codon, a missense variant c.326A > G (p.Gln109Arg), and nonsense mutation c.429G > A (p.Trp143*) in a compound heterozygous state with the Mediterranean splice site variant c.556-14A > G (Tyr186Phefs*6). Homozygosity for p.Gln109Arg was associated with absent EPCAM staining, and compound heterozygosity for p.Trp143*/Tyr186Phefs*6 was associated with reduced EPCAM staining in duodenal biopsies; such observations might contribute to a genotype–phenotype correlation in larger cohorts of TE patients. This study extends the clinical and molecular spectrum of TE.

Objective: The aim of this study was to compare the accuracy rate of liver stiffness calculated by shear wave elastography with liver biopsy results in obese and overweight children. Materials and Methods: Obese and overweight children between 3 and 18 years of age, who had hepatic steatosis and a healthy control group were included in this study. A blood sample was obtained for laboratory tests and shear wave elastography was performed for all subjects. Liver biopsies were performed only in patients with hepatosteatosis, providing permission for biopsy, and for whom the biopsy procedure was not contraindicated. Results: A cohort of 142 children (78 overweight/obese and 64 healthy) was included in this study. Shear wave elastography values were significantly higher in the patient group as com- pared to the control group (34.0 vs. 8.2 kPa; P < .001). Obese children had higher elastog- raphy values compared to non-obese children (50.2 vs. 23.7 kPa, P < .001). No correlation was detected between fibrosis score and elastography values. Elastography increased with increasing weight (correlation coefficient: 0.334, P = .003) and body mass index (correlation coefficient: 0.364, P = .001). Conclusion: In obese and overweight patients, elastography values are higher than in healthy subjects as well as patients with liver fibrosis. Disease-specific cut-off, mean, and normal ref- erence range values should be defined with large-scale studies to improve interpretation of elastography values. Our results are contradictory in the determination of liver fibrosis with shear wave elastography in obese and overweight patients, thus further research with a larger patient population is recommended. Cite this article as: Gülcü Taşkın D, Kayadibi Y, Baş A, et al. Accuracy rate of shear wave elastography in detecting the liver fibrosis in overweight and obese children with hepatosteatosis. Turk Arch Pediatr. 2023;58(4):436-441.