Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.

Background/aims:  Congenital sucrase-isomaltase deficiency is an autosomal recessive inherited disaccharidase deficiency characterized by chronic osmotic diarrhea. In this study, the genotype-phenotype relationships of close relatives of an index case with congenital sucrase-isomaltase deficiency were investigated.

Materials And Methods:  A 23-month-old female patient with a sucrase-isomaltase gene c.

Applicability of the Pancreatic Exocrine Insufficiency Test (PEI-TEST) in Pediatric Patients.

In mild cases, it is difficult to diagnose pancreatic exocrine insufficiency (PEI). There is no gold standard method for the diagnosis of PEI. A reliable method is needed for preliminary diagnosis of PEI.

Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

Background: Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by () gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations.

Methods: The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the gene considering CSID due to diet-related complaints.

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.

Background: APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. .

SARS-CoV-2 Antibodies in Children with Chronic Disease from a Pediatric Gastroenterology Outpatient Clinic.

Purpose: At the beginning of the Coronavirus disease (COVID-19) epidemic, physicians paid close attention to children with chronic diseases to prevent transmission or a severe course of infection. We aimed to measure the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibody levels in children with chronic gastrointestinal and liver diseases to analyze the risk factors for infection and its interaction with their primary disease.

Methods: This cross-sectional study analyzed SARS-CoV-2 antibody levels in patients with gastrointestinal and liver diseases (n=141) and in healthy children (n=48) between January and February 2021.

When Should Endoscopic Interventions Be Performed in Children with Severe Anemia?

Objective: Anemia is a common problem in outpatient clinics, and endoscopic interventions are one of the initial steps to rule out the gastrointestinal causes. In this study, we aimed to analyze the diagnostic yield of endoscopic interventions in children with severe anemia.

Materials And Methods: The demographic features, laboratory findings, and endoscopic and histopathological findings of 65 children with severe anemia (hemoglobin <7 g/dL) (mean age of 12.

New-onset celiac disease in children during COVID-19 pandemic.

Aim: We aimed to analyse the influence of the COVID-19 pandemic on the frequency and clinical presentation of celiac disease.

Methods: The study included the patients with celiac disease since January 2008. They were divided into 2 groups (diagnosed in pre-pandemic [January 2008 and February 2020] [n = 148] and in pandemic period [March 2020 and June 2021] [n = 47]).

Successful therapeutic plasma exchange in a case with extremely severe hypertriglyceridemia secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease.

Herein, we aimed to present a child with extremely severe hypertriglyceridemia (ESHTG) secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease (GSD). Extremely severe hypertriglyceridemia (10 700 mg/dL) was detected through the apparent lipemic appearance of the sampled blood in a 17-year-old male patient with severe diabetic ketoacidosis. In spite of insulin infusion, the patient's clinical condition deteriorated to acute pancreatitis.

Early onset congenital diarrheas; single center experience.

Background: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing.

Methods: Demographic, clinical and genetic findings, and outcome of the patients (n = 24) with CDDs were recorded from hospital files.

Prevalence of celiac disease in children with joint hypermobility.

Introduction: Generalized joint hypermobility is a clinical feature that is associated with excessive joint laxity, which can occur alone or with various inherited disorders. The term of benign joint hypermobility or joint hypermobility is used when the presence of musculoskeletal symptoms in subjects with generalized joint hypermobility in the absence of demonstrable systemic rheumatic diseases. In recent studies, it was shown that there is a strong relationship between structural and functional gastrointestinal disorders and joint hypermobility.

The first pediatric case of hemophagocytic lymphohistiocytosis secondary to Crimean-Congo haemorrhagic fever successfully treated with therapeutic plasma exchange accompanying ribavirin and intravenous immunoglobulin.

Although Crimean-Congo hemorrhagic fever (CCHF) is mild and self-limited in children, some patients may develop excessive bleeding, massive liver necrosis, and multiple organ failure associated with secondary hemophagocytic lymphohistiocytosis (HLH) induced by cytokine storm. Treatment of CCHF is mainly symptomatic and supportive. The efficacy of ribavirin, which is the only antiviral drug in the treatment of CCHF, remains controversial.

Comparison of clinical outcomes and FOXP3, IL-17A responses in Helicobacter pylori infection in children versus adults.

Background: The purpose of this study was to compare the clinical symptoms and pathological consequences of Helicobacter pylori (H. pylori) infection between children and adults and determine the levels of expression of FOX3P and IL-17A to examine the Th17/Treg balance.

Methods: Forty pediatric and 40 adult patients who were followed up at the Pediatric Gastroenterology and Internal Medicine Gastroenterology Departments were enrolled in the study.

Fecal elastase levels in children diagnosed with functional abdominal pain-not otherwise specified.

Background: Although the exact pathophysiology of functional gastrointestinal diseases remains unclear, numerous etiologies have been blamed, including visceral hypersensitivity, gastrointestinal motility disorders, psychological factors, intestinal mucosal inflammation, intestinal microbiota, and post-infectious syndromes. In the present study, we aimed to evaluate pancreatic insufficient patients diagnosed with functional abdominal pain-not otherwise specified (FAP-NOS) according to Rome IV criteria.

Methods: The study included a total of 110 patients aged 4-17 years who were diagnosed with FAP-NOS according to Rome IV criteria.

Altered von Willebrand Factor and ADAMTS13 Levels in Children With Cirrhosis and Extrahepatic Portal Hypertension.

Background/aim: This study was concerned with whether vWF (von Willebrand factor) and a disintegrin and metalloprotease with a thrombospondin type 1 motif, member 13 (ADAMTS13) has altered in patients with cirrhosis and extrahepatic portal hypertension (EPH). We aimed to investigate changes to vWF and ADAMTS13 in children with cirrhosis and EPH.

Patients And Methods: This study was conducted between January and October 2019 with both cirrhosis and EPH patients and with healthy volunteers.

Efficiency of azathioprine monotherapy for maintenance treatment of autoimmune hepatitis in children.

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.

A disposable gold-cellulose nanofibril platform for SERS mapping.

In this study, we present a disposable and inexpensive paper-like gold nanoparticle-embedded cellulose nanofibril substrate for the rapid enumeration of Escherichia coli (E. coli) using surface-enhanced Raman scattering (SERS) mapping. A disposable SERS substrate was simply constructed by mixing CNF and gold chloride solution at 120 °C in a water bath.

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism.

Particular fibrinogen γ chain mutations occurring in the γ-module induce changes that hamper γ-γ dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition has been termed hereditary hypofibrinogenemia with hepatic storage (HHHS).

Effectivity of Pancreatic Enzyme Replacement Therapy in Malnourished Children.

Objective: Malnutrition is commonly seen in children with exocrine pancreatic insufficiency (EPI). Pancreatic enzyme replacement therapy (PERT) is the mainstay treatment of acute malnutrition in children detected with a disease closely associated with EPI (eg, cystic fibrosis). The effectiveness of PERT in children with malnutrition without any chronic disease, however, remains unclear.

Immunomagnetic separation and Listeriamonocytogenes detection with surface-enhanced Raman scattering.

Background/aim: We aimed to develop a rapid method to enumerate Listeria monocytogenes (L. monocytogenes) utilizing magnetic nanoparticle based preconcentration and surface-enhanced Raman spectroscopy measurements.

Materials And Methods: Biological activities of magnetic Au-nanoparticles have been observed to have the high biocompatibility, and a sample immunosensor model has been designed to use avidin attached Au-nanoparticles for L.

Emotional dysregulation in adolescents with functional gastrointestinal disorders.

Background And Study Aims: In various gastrointestinal system diseases, emotional dysregulation has been shown to reduce pain tolerance and increase the severity of the disease. Increased emotional dysregulation during the adolescence period causes gastrointestinal symptoms to be more frequent and severe. In this study, Child Depression Inventory (CDI) scores were investigated in patients admitted to our clinic with functional gastrointestinal disorders.

Surface enhanced Raman spectroscopy as a novel tool for rapid quantification of heroin and metabolites in saliva.

Background: Heroin can be detected and quantified by certain analytical methods, however, forensic professionals and criminal laboratories study for cheaper and faster detection tools. Surface-enhanced Raman spectroscopy (SERS) rises as a possible alternative tool with its widening application spectra. There are few studies regarding Raman and SERS spectra of heroin and its metabolites, which are unfortunately controversial.

Acute liver failure associated with metabolic diseases: A 10-year single-center experience.

Background: Acute liver failure (ALF) is a rare multisystemic disease occurring in individuals with no history of liver disease, characterized by coagulopathy and / or hepatic encephalopathy secondary to acute liver injury. It is mostly caused by viral infections, drug intoxication, and metabolic diseases (MD), and can also have an indeterminate etiology. In this study, we aimed to evaluate the demographic and clinical characteristics and clinical outcomes of the patients that presented to our clinic with MD-associated ALF.