Vitamin and mineral levels in children with autism spectrum disorder

The aim of this study was to compare the vitamin and mineral values of the patients followed up in the Child Psychiatry Outpatient Clinic with the diagnosis of autism spectrum disorder to healthy controls in the same age group and to investigate whether vitamin-mineral values were related to autism weight (CARS score).Between September 2017 and September 2018, we worked at Bakırköy Dr. Sadi Konuk Training and Research Hospital Children and Adolescent Mental Health and Diseases outpatient clinic with autism spectrum disorder patients with childhood autism assessment scale (CARS) was weighted. Age, gender, height, weight, blood Iron, Vitamin B12, Folate and 25 (OH) Vitamin D levels of all patients included in the study were recorded.  Mann-Whitney U, Pearson chi-square and Fisher's exact test were used to evaluate the data. In this study, 108 patients with ASD were compared with 115 normal cases. There was no statistically significant decrease in Vitamin B12, Folate, Iron and Vitamin D levels in patients with ASD compared to normal patients. According to CARS score, there was no statistically significant difference in vitamin B12, Folate, Iron and Vitamin D levels in children with mild and severe ASD. In our study, it was concluded that vitamin B12, Folate, Iron and Vitamin D levels in children with ASD were not lower than healthy children, and there was no difference between mild and severe cases according to CARS score

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

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.This research was funded by Jubiläumsfonds der Österreichischen Nationalbank, grant no.16678 (to A.R.J.), grant no. 18019 (to G.-F.V.) and Tiroler Wissenschaftsfonds, grant No. 0404/2386 (toG.-F.V.).info:eu-repo/semantics/publishedVersio

Molecular heterogeneity in cystic fibrosis

We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and demographic features of children diagnosed with cystic fibrosis (CF). Twenty-five CF patients were evaluated retrospectively. Patients' demographics, physical examination, imaging, laboratory, and molecular pathogenic variant analysis findings were evaluated. Phe508del was the most frequently (33.3%) detected pathogenic variant, followed by point pathogenic variants E92K, 1898 + lGA/7T/7T, and 2789 + 5GA, respectively. Statistically higher rates of pathogenic variants were detected in male patients. The most frequently detected pathogenic variant was Phe508del. The identification of nine additional pathogenic variants of Phe508del revealed the heterogeneous nature of the CF

Functional Constipation Frequency in Children Diagnosed with Autism Spectrum Disorder

Aim: In our study, we aimed to determine the frequency of functional constipation in children diagnosed with autism spectrum disorders by child and adolescent psychiatry and mental health.Materials and Methods: Between September 2017 and September 2018, children with autism spectrum disorder who applied to BakırköySadiKonuk Education and Research Hospital Child and Adolescent Psychiatry Outpatient Clinic were evaluated by means of childhood autism rating scale (CARS). A total of 108 patients were evaluated with the Roman IV criteria and the frequency of functional constipation was investigated.Results: A total of 108 cases, 87% (n = 94) male and 13% (n = 14) female, were studied. The ages of the patients were between 2 and 15 years and the mean age was 6.89 ± 2.76. Organic constipation was not detected in patients with constipation and all of them were diagnosed as functional constipation. There was no statistically significant difference between the rates of functional constipation in cases according to gender. The incidence of functional constipation in males was significantly higher in patients with severe autism than in those with mild to moderate autism. “Two or fewer defecations in the toilet per week” criteria was found significantly higher in girls than in boys. No significant difference was found for the other five criteria according to gender. Each of the six criteria of the Rome IV criteria were found to be significantly higher in patients with severe autism than those with mild to moderate autism according to CARS scores. One of the Roman IV criteria, “History of large diameter stools that may obstruct the toilet” was found significantly higher in patients aged nine years and older. No significant correlation was found between the other criteria and age groups.Conclusion: All of the six criteria of the Roman IV criteria were significantly higher in cases with severe autism according to CARS, compared to those with mild to moderate autism..</div

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families

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 &gt; G (p.Gln109Arg), and nonsense mutation c.429G &gt; A (p.Trp143*) in a compound heterozygous state with the Mediterranean splice site variant c.556-14A &gt; 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