The overlap between type 1 diabetes and celiac disease in children and the role of tTG-IgA positivity in endoscopy decision.

Introduction: Celiac Disease (CD)-related antibody positivity in children with Type 1 Diabetes (T1D) may fluctuate and become negative spontaneously. There are uncertainties about the optimal tTG-IgA titre and timing of endoscopy in the diagnosis of CD, and this study aimed to contribute to the debate on the tTGA-IgA threshold titre for endoscopy decisions in children with T1D.

Methods: The data of 991 children with T1D who had undergone serologic evaluation for CD were analysed retrospectively.

Gut microbiota alterations and associations with nutrients in children with celiac disease.

Celiac disease is a chronic inflammatory condition that is not well understood in relation to the microbiome. Our objective was to demonstrate changes in the microbiota and the relationships between nutrients in children with celiac disease (CD) who followed a gluten-free diet (GFD). A group of 11 children who were recently diagnosed with CD, ranging in age from 3 to 12, were monitored for a period of 6 months.

A Rare Case of Childhood Malformations, Abernethy Syndrome: Literature Review and Presentation of Two Cases.

Abernethy syndrome is a rare congenital vascular anomaly. In this condition, blood from the portal system is diverted to the caval system through a portocaval shunt, entirely or partially bypassing the liver. Prevalence figures in the literature range from 1 per 30000 population up to 1 per 50000 population.

Progressive Familial Intrahepatic Cholestasis Associated With Ubiquitin-Specific Peptidase 53 Gene Variant Presented with Acute-on-Chronic Liver Failure in Turkish Siblings.

Progressive familial intrahepatic cholestasis represents a group of disorders characterized by defective bile excretion, which causes a multitude of clinical symptoms of variable severity and usually begins in childhood. During the past few decades, a number of gene sequence variants have been shown to be associated with progressive familial intrahepatic cholestasis, and new subtypes continue to be discovered. Sequence variants of the ubiquitinspecific peptidase 53 gene have previously been associated with a novel autosomal recessive form of cholestasis with coincident normal or low γ-glutamyl transferase, with mild phenotypes.

Extrahepatic Portal Vein Obstruction in Children.

Objectives: Extrahepatic portal vein obstruction is the most common cause of portal hypertension in children. This study aimed to evaluate the causes, clinical, laboratory and endoscopic findings, treatment approaches, long-term results, and prognosis of extrahepatic portal vein obstruction in children.

Materials And Methods: We retrospectively evaluated 82 patients who were followed up with the diagnosis of extrahepatic portal vein obstruction at Gazi University Pediatric Gastroenterology clinic between January 1, 2011, and October 31, 2021.

Overview of the Etiology, Pathology, and Prognosis of Giant Cell Hepatitis.

Objectives: Giant cell hepatitis is an important diagnostic consideration in early childhood, especially for patients who present with jaundice. Different diseases may play a role in their etiology. In this study, we presented pediatric patients in our center diagnosed with giant cell hepatitis.

Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants.

Background: Deficiency of adenosine deaminase (ADA or ADA1) has broad clinical and genetic heterogeneity. Screening techniques can identify asymptomatic infants whose phenotype and prognosis are indeterminate, and who may carry ADA variants of unknown significance.

Objective: We systematically assessed the pathogenic potential of rare ADA missense variants to better define the relationship of genotype to red blood cell (RBC) total deoxyadenosine nucleotide (dAXP) content and to phenotype.

Are Medical Students and Primary Health-care Professionals Aware of Neonatal Cholestasis and Acholic Stool.

Early diagnosis of biliary atresia (BA) and the timing of Kasai hepatic portoenterostomy are associated with improved survival rates of the native liver. Acholic stool is a major and earliest sign of BA. We evaluated the awareness and recognition of medical students and primary health care professionals (PHCPs) about neonatal cholestasis and acholic stool as a marker of BA.

A Classification for Gastric Outlet Obstruction in Childhood: Extending Beyond Infantile Hypertrophic Pyloric Stenosis.

Background/aims:  Gastric outlet obstruction (GOO) is a rare condition in childhood, with the exception of infantile hypertrophic pyloric stenosis (IHPS). However, no classification exists from a pediatric gastroenterologist's perspective.

Materials And Methods:  The patients with a diagnosis of GOO between 2009 and 2020 were reviewed retrospectively.

Impact of a hospital sepsis management protocol on the selection of empirical antibiotics in infectious disease consultations.

It is well-established that Infectious Diseases consultation (IDC) enhances the prognosis of bloodstream infections. However, it is unclear if adoption of an institutional sepsis protocol would lead to any further improvement in a setting where IDC and infectious diseases approval (IDA) - available throughout 7 days/24 hours -are mandatory for administering broad spectrum antibiotics. We aimed to evaluate the influence of the institutional sepsis protocol developed by Department of Infectious Diseases and Clinical Microbiology on the selection of appropriate empirical antibiotics by IDC through focusing on patients who had bloodstream infections caused by Extended-spectrum β-lactamase (ESBL) producing Escherichia coli and Klebsiella pneumoniae, which poses a therapeutic challenge.

Is the Pediatric Eosinophilic Esophagitis Symptom Score v2.0 reliable for telemedicine?

Background: Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease. Telemedicine is a healthcare technology used when a patient is separated by distance. The reliability of the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.

Portal Hypertension in Children: A Tertiary Center Experience in Turkey.

Purpose: Portal hypertension (PH) and its complications have a significant impact on morbidity and mortality. This study aimed to evaluate the etiology; clinical, laboratory, and endoscopic findings; treatment approaches; long-term outcomes; and prognosis of pediatric PH.

Methods: This retrospective study included 222 pediatric patients diagnosed with PH between 1998 and 2016, and data encompassing clinical, laboratory, and radiological features; treatments; and complications were analyzed.

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.

Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months.

Food-induced immediate response of the esophagus in pediatric eosinophilic esophagitis.

Background: Food-induced immediate response of the esophagus (FIRE) is a new phenomenon that has been described in eosinophilic esophagitis (EoE) patients. It is suspected when unpleasant symptoms occur suddenly on contact of the triggering food with the esophageal surface and recur with repeated exposures. It can often be mistaken for pollen-food allergy syndrome (PFAS) and solid food dysphagia.

Growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula in infants with cow's milk protein allergy.

Objective: To evaluate growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula (eHCF) in infants with cow's milk protein allergy (CMPA).

Methods: A total of 226 infants (mean ± SD age: 106.5 ± 39.

Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis.

Background & Aims: PEDFIC 2, an ongoing, open-label, 72-week study, evaluates odevixibat, an ileal bile acid transporter inhibitor, in patients with progressive familial intrahepatic cholestasis.

Methods: PEDFIC 2 enrolled and dosed 69 patients across two cohorts; all received odevixibat 120 μg/kg per day. Cohort 1 comprised children from PEDFIC 1, and cohort 2 comprised new patients (any age).

A novel pediatric Eosinophilic Esophagitis Symptoms and Adaptive Behavior Scale for different ages: GaziESAS v2.0.

Background: High-quality scales (HQS) suitable that measure symptoms and adaptive behaviors (AB) with proven validity and reliability are needed for different age groups of children with eosinophilic esophagitis (EoE).

Objective: To develop a high-quality pediatric EoE symptoms and AB scale for different age groups.

Methods: Children (7-11 years), teens (12-18 years), and parents of 2-18-year-old children with EoE were included.

The significance of MUAC z-scores in diagnosing pediatric malnutrition: A scoping review with special emphasis on neurologically disabled children.

This review by a panel of pediatric gastroenterology-hepatology-nutrition and pediatric neurology experts aimed to address the significance of mid-upper arm circumference (MUAC) assessment in diagnosis of pediatric malnutrition. Specifically, the potential utility of recently developed MUAC z-score tape in clinical practice for larger patient populations was addressed including the neurologically disabled children. In accordance with the evidence-based data, four statements were identified by the participating experts on the utility of MUAC z-score tape, including (1) MUAC z-scores correlate with body mass index (BMI) and weight for height/length (WFH/l) z-scores in diagnosing malnutrition; (2) MUAC -score tape offers a higher sensitivity to diagnose the mild and moderate malnutrition and better ability to track the changes in nutritional status over time than the other single datapoint measurements; (3) Using single-step MUAC -score tape in children with cerebral palsy (CP) seems to provide more reliable data on anthropometry; and (4) The clinical value of the tool in classifying secondary malnutrition in CP should be investigated in large-scale populations.

Oropharyngeal Dysphagia in Children with Eosinophilic Esophagitis.

Dysphagia is the most troublesome symptom of eosinophilic esophagitis (EoE). This study aimed to investigate oropharyngeal dysphagia in children with EoE and possible related factors. Children with a definite diagnosis of EoE were included in the study.