11 research outputs found

    Neurological and Psychosocial Evaluation of Pediatric Celiac Patients: Diet Adherence-Case Control Study

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    Objective: The aim of this study was to evaluate the neurological evaluation of pediatric patients with celiac disease and to compare with adherence to gluten-free diet (GFD) and non-adherence GFD and to evaluate the behavioral characteristics of these patients

    The Gastroscopic Findings of he Pediatric Patients With Hematemesis

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    Objective: Hematemesis is a common symptom of upper gastrointestinal bleeding, bleeding from the mouth that appears fresh red or looks like "coffee grounds." It is a rare, life-threatening emergency condition and potentially requires emergency intervention in children. Our study aims to evaluate the gastroscopy findings of pediatric patients who presented with vomiting of blood

    Corrosive Esophagitis with Benzalkonium Chloride in a Two Days Old Neonate

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    Benzalkonium chloride (BAC) is a caustic agent which is used in farms, homes and hospitals for cleaning skin and wounds as an antiseptic solution. It may lead to digestive system injuries in case of ingestion. We present a two-days-old newborn case which was carried to the emergency unit with complaints of poor breastfeeding, uneasiness and crying for 4-6 hours. Her mom confessed that she had given a spoon of 10% BAC solution for her cough. Initial laboratory tests were in normal ranges. A gastroscopy performed in the second hour of her admission revealed an hyperemic and edematous mucosa in the middle third of esophagus and a circumferential ulceration followed in the distal portion. Hereupon, a conservative treatment for 10 days was administered and the control gastroscopy demonstrated that the damage was almost totally improved. She was the youngest case with this etiology and successfully treated with conservative approach

    Allergic myocardial infarction in childhood: Kounis syndrome

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    Kounis Syndrome was first described by Kounis as "allergic angina syndrome" progressing to "allergic myocardial infarction". This report describes the first children in the literature presented with Kounis syndrome

    A rare cause of vomiting: annular pancreas

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    Annular pancreas is a rare congenital anomaly that consists of a ring of pancreatic tissue partially or completely encircling the second part of the duodenum. It can affect anyone from neonates to adults, and is difficult to diagnose because it can present in a wide range of clinical conditions. Although cases have also been reported in adults, symptomatic cases are often referred in infancy or early childhood. A 17-year-old female patient who was diagnosed as having annular pancreas is reported. The patient had had non-bilious vomiting accompanied by abdominal pain, especially 5-10 minutes after meals, for seven years. Annular pancreas, which may be seen at any age, should be considered in the differential diagnosis of patients with non-bilious vomiting, particularly after meals, over a long period

    The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals

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    This study aimed to determine the prevalence of infantile functional gastrointestinal disorders (FGIDs) based on Rome IV diagnostic criteria, and to determine the associated patient demographic and nutritional characteristics. A total of 2383 infants aged 1-12 months which were evaluated by 28 general pediatricians and pediatric gastroenterologists on the same day at nine tertiary care hospitals around Istanbul, Turkey, between November 2017 and March 2018, were included in the study. Patients included consulted the pediatric outpatient clinics because of any complaints, but not for vaccines and/or routine well child follow-ups as this is not part of the activities in the tertiary care hospitals. The patients were diagnosed with FGIDs based on Rome IV diagnostic criteria. The patients were divided into a FGID group and non-FGID group, and anthropometric measurements, physical examination findings, nutritional status, risk factors, and symptoms related to FGIDs were evaluated using questionnaires. Among the 2383 infants included, 837 (35.1%) had >= 1 FGIDs, of which 260 (31%) had already presented to hospital with symptoms of FGIDs and 577 (69%) presented to hospital with other symptoms, but were diagnosed with FGIDs by a pediatrician. Infant colic (19.2%), infant regurgitation (13.4%), and infant dyschezia (9.8%) were the most common FGIDs. One FGID was present in 76%, and >= 2 FGIDs were diagnosed in 24%. The frequency of early supplementary feeding was higher in the infants in the FGID group aged <= 6 months than in the non-FGID group (P = 0.039)

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

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    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
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