Background & Aims Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. We investigated the mechanisms by which DGAT1 deficiency contributes to intestinal failure using patient-derived organoids. Methods We collected blood samples from 10 patients, from 6 unrelated pedigrees, who presented with early-onset severe diarrhea and/or vomiting, hypoalbuminemia, and/or (fatal) protein-losing enteropathy with intestinal failure; we performed next-generation sequencing analysis of DNA from 8 patients. Organoids were generated from duodenal biopsies from 3 patients and 3 healthy individuals (controls). Caco-2 cells and patient-derived dermal fibroblasts were transfected or transduced with vectors that express full-length or mutant forms of DGAT1 or full-length DGAT2. We performed CRISPR/Cas9-guided disruption of DGAT1 in control intestinal organoids. Cells and organoids were analyzed by immunoblot, immunofluorescence, flow cytometry, chromatography, quantitative real-time polymerase chain reaction, and for the activity of caspases 3 and 7. Results In the 10 patients, we identified 5 bi-allelic loss-of-function mutations in DGAT1. In patient-derived fibroblasts and organoids, the mutations reduced expression of DGAT1 protein and altered triacylglycerol metabolism, resulting in decreased lipid droplet formation after oleic acid addition. Expression of full-length DGAT2 in patient-derived fibroblasts restored formation of lipid droplets. Organoids derived from patients with DGAT1 mutations were more susceptible to lipid-induced cell death than control organoids. Conclusions We identified a large cohort of patients with congenital diarrheal disorders with mutations in DGAT1 that reduced expression of its product; dermal fibroblasts and intestinal organoids derived from these patients had altered lipid metabolism and were susceptible to lipid-induced cell death. Expression of full-length wildtype DGAT1 or DGAT2 restored normal lipid metabolism in these cells. These findings indicate the importance of DGAT1 in fat metabolism and lipotoxicity in the intestinal epithelium. A fat-free diet might serve as the first line of therapy for patients with reduced DGAT1 expression. It is important to identify genetic variants associated with congenital diarrheal disorders for proper diagnosis and selection of treatment strategies.

Objective Rotavirus is a highly infectious and prevalent ribonucleic acid (RNA) virus that causes fatal gastroenteritis in children. Despite vitamin D deficiency is associated with susceptibility to infections, the relationship between ferritin and vitamin B12 levels is not known. This study aimed to investigate and compare the effect of rotavirus on micronutrient levels, atopy, and the frequency of allergic diseases in children with rotavirus.Methods There were rotavirus gastroenteritis (RVG) (N = 92) and non-rotavirus (control) groups (N = 95). Serum micronutrient levels (B12, ferritin, and 25-hydroxyvitamin D [25-OH-D3]) were checked during the first control after gastroenteritis healed. Patients were also examined for allergic diseases on an average of 17 (14–32) months following rotavirus infection. Serum immunoglobulin E (IgE), eosinophil count, and percentage were analyzed. Skin tests and respiratory function tests were also performed on patients with allergic disease and asthma symptoms.Results Mean ferritin, B12, and 25-OH-D3 levels were lower in the RVG group compared with the control group. Allergic diseases in the RVG group were more frequent than in the control group. The prevalence of the allergic disease in the RVG group was 16.3%, as opposed to 5.2% in the control group (p = 0.014). The IgE level was significantly higher in the RVG group.Conclusion Children with rotavirus infection should be followed closely in terms of allergic diseases and micronutrient deficiency. Furthermore, rotavirus infection should be prevented in the society and early treatment should be made available via tests detecting micronutrient deficiency.

Introduction: When transaminase levels (Alanine aminotransferase: ALT, Aspartate aminotransferase: AST) are high, a causal investigation is necessary. Although the etiology and frequency of hypertransaminasemia have been examined at length in the adult population, research addressing pediatric patients is far from being sufficient in number. The objective of this study is to investigate the causes the hypertransaminasemia. We think that knowing the most common causes of hypertransaminasemia in children will help primary care physicians with diagnosis and follow-up.Methods: The patients who were admitted to the pediatric gastroenterology policlinic between 2018- 2019 with ALT> 45 IU /L and/or AST> 50 IU /L levels were the subjects of this study. They all displayed elevated liver function test (LFT) results due to various conditions including liver-related ones and others. The medical records of the patients, who were between 6 months and 18 years of age, were analyzed.Results: Of 237 patients included in the study, 127 (54%) were male and 110 (46%) were female. The mean age of the patients was 75.40 ± 60.50 months. 5.06% of the patients had fever, 11.39% had hepatomegaly, 7.59% suffered from loss of appetite and 7.59% had abdominal pain. The obesity rate was at 9.70% while splenomegaly was detected in 2.11% of the patients. Elevation of liver enzymes was found to be related with idiopathic causes 35% (n=83), viral infections 21% (n=50), hepatosteatosis 15% (n=38), and medication 8.80% (n=21).Conclusion: Hypertransaminasemia may be an outcome of primary diseases of the liver and it may also be aggravated due to secondary effects. NAFLD (non-alcoholic fatty liver disease, viral infections, and medication continue to be among the most common causes. NAFLD constitutes an important cause of hypertransaminemia in children.

Background: Celiac disease is an immunological reaction provoked by gluten digestion in genetically vulnerable individuals in response to unknown environmental factors. It affects 0.7% of the world’s population and occurs at a rate of 1% in most nations. We aimed to assess the clinical, laboratory, and histopathological characteristics of patients with a presumable diagnosis of celiac disease and to investigate the coexistence of autoimmune disorders. Methods: In this retrospective study, data were gathered from the medical files of a total of 493 individuals with a preliminary diagnosis of celiac disease who underwent endoscopic biopsies. Analysis was carried out for clinical, biochemical, and histological results, as well as the presence of autoimmune disease. Results: Per the results of serological tests used in the diagnosis of celiac disease in this series, gliadin IgA and IgG positivities were found in 33.7% (n = 54/160) and 39.4% (n = 69/175) of patients; endomysium IgA and IgG positivities were detected in 37% (n = 88/238) and 18% (n = 30/167) of patients, while tissue transglutaminase IgA and IgG positivities were detected in 47.3% (n = 115/243) and 16.3% (n = 15/92) of patients, respectively. The incidence of patients with a CD3 level of ≥30% was 69.1% in 152 patients whose CD3 levels were tested. Conclusion: The general public and healthcare professionals need to be more aware of the prevalence and many signs of celiac disease. There is still a need to conduct the necessary research in this area. By boosting awareness, early diagnosis, and diet, it will be possible to prevent symptoms and negative consequences.

Background: The rate of autoimmune thyroiditis in children with celiac disease (CD) is high relative to the normal population. Since the majority of these patients are also euthyroid, thyroid imaging methods are gaining significance in diagnosis and follow-up. This study examines the effectiveness of thyroid ultrasonography (US) and thyroid shear wave elastography (SWE) in diagnosing thyroid disease in children with CD. Materials and methods: This cross-sectional controlled study analyzed thyroid US, SWE, serum thyroid function tests, and thyroid autoimmune antibodies of 106 CD patients and 103 control patients without CD. An Aplio 500 ultrasound device with a linear array transducer and elastography software was used for thyroid US and SWE measurement of all patients. Results: Right lobe thyroid volume, left lobe thyroid volume, total thyroid volume, thyroid mean elasticity (m/s), right lobe elasticity (kPa), left lobe elasticity (kPa), and mean thyroid elasticity (kPa) levels of the CD group were higher than those of the control group (p < 0.001). The relationships between thyroid US and thyroid mean elasticity (m/s), thyroid mean elasticity (kPa), anti-thyroid peroxidase antibody, and thyroid-stimulating hormone were positive and moderate, respectively (r = 0.612, 0.612, 0.636, and 0.565, respectively; p < 0.001). Conclusion: In this study, SWE findings were compatible with laboratory findings, as they constituted a sensitive and useful method in the diagnosis and follow-up of autoimmune thyroid disease in children with CD.