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Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert syndrome should be considered based on clinical and laboratory findings in differential diagnosis, which can be supported by genetic analysis. This study aimed to evaluate the clinical findings and UGT1A1 mutations of children with Gilbert syndrome.Patients who were admitted to the pediatric gastroenterology clinic and who were considered to have Gilbert syndrome based on clinical and laboratory findings were included in the study. The UGT1A1 analysis was performed by Sanger sequence analysis.A total of 56 children were included in the study. A(TA)7TAA, A(TA)6TAA, and (TA)6/7 allele promoter polymorphism was detected in 75.5%, 22.5%, and 2% of the patients, respectively. Other than these, in 3 patients, 3 different sequence variants associated with GS [c.880_893delinsA (p.Tyr294MetfsTer69) and c.1091CT(p.Pro365Leu)] were detected.We detected 7 TA repeats in the majority of our patients. A mild bilirubin elevation was determined in cases with 6 repetitions that were not considered risky for Gilbert syndrome. We concluded that the c.880_893delinsA (p.Tyr294MetfsTer69) variant, previously shown to be associated with Crigler-Najjar syndrome type I, may also be associated with partial enzyme deficiency leading to the Gilbert syndrome phenotype.

BACKGROUND: Given that procedures involving gastrointestinal tract lumens are high-risk and aerosol forming, the functioning of endoscopy units has been reorganized during the coronavirus disease 2019 pandemic. Guidelines recommend that all personnel should carry out procedures in a negative-pressure room with personal protective equipment; in the absence of a negative-pressure room, an adequately ventilated room should be used. During the normalization of the coronavirus disease 2019 pandemic, this study aimed to evaluate children who were treated in our endoscopy unit without a negative-pressure chamber in terms of coronavirus disease 2019 after procedures. METHODS: Patients were questioned and evaluated prospectively for symptoms and contact with coronavirus disease 2019 patients on before and 7th and 14th days after the procedure. RESULTS: Seventy-eight procedures were performed on 69 patients over a 3-month period. The mean age of patients was 12.0 ± 5.1 years. Among all the procedures performed, 54 (69.2%) involved upper gastrointestinal system (GIS) endoscopy and 24 (30.8%) involved colonoscopy. Furthermore, 72 (91.3%) of the procedures were performed in the pediatric endoscopy unit, and 6 (7.7%) were performed in the operating room. No coronavirus disease 2019 symptoms or presence was detected in the patients. CONCLUSION: The ideal setting for an endoscopic procedure is in a negative-pressure chamber. However, this study has shown that ­endoscopic procedures can be performed in units without negative-pressure rooms but with appropriate protective equipment and evaluation of patients for coronavirus disease 2019 symptoms.

Aim: Cardiac abnormalities associated with celiac disease (CD) have been reported. However, changes in electrocardiographic (ECG) parameters in children with CD have not been previously evaluated in the literature. In this study, we aimed to evaluate these parameters which may be determinative in the development of atrial and ventricular arrhythmia of children with CD. Materials and Methods: Patients diagnosed with CD in the gastroenterology clinic were included in the study. ECG measurements of QT, T peak to end (Tp-e) and P intervals were performed. The Tp-e/QT ratio was calculated from these measurements. Echocardiographic and ECG parameters of the patients and controls were compared. Those patients with elevated anti-tissue transglutaminase immunoglobulin A (IgA-tTG) levels were considered positive serology. The patients were divided in three groups and compared with each other according to ECG parameters; namely newly diagnosed patients, patients with seropositive and patients with seronegative who had been on a gluten free diet for at least 6 months. Results: Fifty-two patients with CD and 59 healthy volunteers were included. P-wave dispersion, QTd, corrected QT dispersion (QTcd), Tp-e dispersion and TP-e/QT ratio were higher in those children with CD compared to the controls. We did not find any correlation between IgA-tTG levels and P-wave, QT and Tp-e dispersions. There was no difference between the three groups of CD patients for ECG and echocardiographic parameters. Conclusion: CD is associated with changes in some ECG parameters, which are considered as predictors of atrial and ventricular arrhythmias in special populations. For this reason, children with CD should be evaluated in terms of these parameters, and more electrophysiological studies are necessary to reveal the clinical and prognostic effects of these parameters for CD.

Microvillus inclusion disease is a cause of congenital intestinal intractable diarrhea. Total parenteral nutrition is required throughout life and the patients need intestinal transplantation for survival. The new Coronavirus Disease 2019 (COVID-19) caused a worldwide pandemic in January 2020. Emergency surgical interventions are suggested to carrying out by taking appropriate measures during the pandemic period. In this case report, we aimed to discuss the small bowel transplantation management during the COVID-19 pandemic by presenting a child with microvillus inclusion disease who was underwent emergency small bowel transplantation due to the appropriate cadaveric organ donation.

Aim:The mother is an important determinant of the nutrition of her children. The aim of this study is to evaluate the relationship between obese or overweight mothers, their socio-demographic status and appetite on the anthropometric measurements of their children, and to evaluate the relationship between breastfeeding duration, initiation time of a complementary diet and children’s body mass index (BMI) classification.Materials and Methods:Children whose ages were between 2 and 5 years old, with no additional chronic disease, were included. The socio-demographic data, anthropometric measurements and appetites of the children and their mothers were determined. Obese or overweight mothers and mothers with normal BMI were studied as two separate groups. The duration of breastfeeding and initiation time of a complementary diet for the children was classified as 6 months.Results:A total of 182 children (109 with obese and overweight mothers and 73 with mothers with normal BMI) were included. The ratio of overweight and obese children among the group of obese and overweight mothers was higher. When the weight, weight percentile and weight standard deviation score values of the obese or overweight mothers were compared with their children, a moderately statistically significant positive correlation was found. The ratio of overweight and obese children among the group of employed mothers, and the ratio of underweight children among the group of unemployed mothers, was high. A significant relationship was found between maternal appetite and the BMI classification of their children. No statistically significant difference was found between breastfeeding duration, initiation time of a complementary diet and children’s BMI classification.Conclusion:It was determined that the mother’s characteristics of having a BMI classification of overweight or obese, excessive appetite and being employed may be risk factors in the development of overweight and obese children.

Autoimmune hepatitis is characterized by inflammation in liver histology, circulating autoantibodies, and increased levels of immunglobulin G, in the absence of a known etiology. There are different clinical types described in children. Because of the presentation of autoimmune hepatitis with different clinical findings, establishment of diagnosis may be difficult. In the last two decades, a a 6-fold increase in the incidence of autoimmune hepatitis has been reported thanks to update of diagnostic approaches and the increase in technical possibilities. Autoimmune hepatitis should be considered in the differential diagnosis of any liver disease not caused by viral and metabolic factors. Its association with other clinical conditions such as autoimmune thyroiditis, vitiligo, collagen and connective tissue disorders is already known. Although autoimmune hepatitis is a treatable disorder, it may cause cirrhosis and fulminant hepatitis that need liver transplantation without treatment. In this review, we aimed to present the clinical findings, diagnosis and treatment methods of autoimmune hepatittis in children in the light of current literature.

Introduction Autoimmune hepatitis (AIH) is a common pediatric liver disease and long-term remission is usually maintained with low dose prednisolone and azathioprine (AZA). The aim of this study is to evaluate the efficiency of AZA monotherapy for maintenance treatment of children with AIH. Materials and methods This study was a retrospective analysis of the 55 children with AIH. Patients were divided into two groups: combination therapy (CT) and AZA group based on maintenance therapy. Results of these two different maintenance treatments were compared in children with AIH. Results The mean age of the children was 10.67 ± 4.30 years (61.8% females) with a mean follow-up period of 46.8 ± 33.6 months. For maintenance treatment, 39 (70.9%) patients received AZA and 16 (29.1%) patients received CT. Relapse was observed in nine (19.6%) cases in the follow-up period; two were in the CT group (2/16; 12.5%) and seven (7/39; 17.9%) were in the AZA group (P = 0.620). In AZA group, the duration of remission was 22.2 ± 6.1 months and that was longer than CT group (P = 0.025). Conclusion Our study suggests that AZA monotherapy is an effective and safe therapy for maintaining remission in children with AIH. AZA monotherapy may be used for maintenance treatment of children with AIH, except in cases of overlap syndrome and also to avoid side effects of long-term used steroids and to improve treatment compliance in proper cases.

Waardenburg syndrome is a genetic disease characterized by hearing loss and pigmentation abnormalities. Waardenburg syndrome type 4 is very rare, and children with Waardenburg syndrome type 4 present with intestinal aganglionosis. The associated findings and severity of Waardenburg syndrome type 4 may also differ significantly between cases. Intestinal insufficiency is probable and creates difficulties in terms of treatment; intestinal transplant may be required. In this case report, we present 4 cases of patients with Waardenburg syndrome who have intestinal issues, 2 of whom underwent small bowel transplant. Appropriate surgical and nutritional management should be provided for patients with Waardenburg syndrome type 4 who have gastrointestinal manifestations.

Renal–hepatic–pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3, which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3-related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C > T variant of NPHP3. This is the first description of this genotype and RHPD1 phenotype in the literature. The patient is currently being closely monitored for the necessity of combined renal and liver transplantation under supportive treatment.

Summary Cell division is a process by which a mother cell divides into genetically identical sister cells, although sister cells often display considerable diversity. In this report, over 350 sister embryonic stem cells (ESCs) were isolated through a microdissection method, and then expression levels of 48 key genes were examined for each sister cell. Our system revealed considerable diversities between sister ESCs at both pluripotent and differentiated states, whereas the similarity between sister ESCs was significantly elevated in a 2i (MEK and GSK3b inhibitors) condition, which is believed to mimic the ground state of pluripotency. DNA methyltransferase 3a/3b were downregulated in 2i-grown ESCs, and the loss of DNA methyltransferases was sufficient to generate nearly identical sister cells. These results suggest that DNA methylation is a major cause of the diversity between sister cells at the pluripotent states, and thus demethylation per se plays an important role in promoting ESC’s self-renewal., Graphical Abstract, Highlights • ESC division symmetry was characterized through high-throughput RNA analyses • Pluripotent ESCs displayed considerable gene expression diversity between sister cells • Similarity between sister ESCs is significantly elevated at ground-state pluripotency, Jasnos et al. evaluated the division symmetry of murine embryonic stem cells (ESCs) through high-throughput RT-PCR analyses using isolated single sister cells. Results suggest that ESC divisions are not entirely symmetric when they are cultured with LIF and BMP4 only, but a 2i condition significantly promotes symmetric divisions. Analyses of mutant ESCs suggest that DNA demethylation plays an important role in promoting ESC’s self-renewal.