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.

Prognostic factors affecting ALS progression through disease tollgates.

Background And Objectives: Understanding factors affecting the timing of critical clinical events in ALS progression.

Methods: We captured ALS progression based on the timing of critical events (tollgates), by augmenting 6366 patients' data from the PRO-ACT database with tollgate-passed information using classification. Time trajectories of passing ALS tollgates after the first visit were derived using Kaplan-Meier analyses.

Thiol-Disulfide Homeostasis in Noise-Induced Hearing Loss in Rats.

Background: This study was designed to assess if thiol-disulfide homeostasis could be used as diagnostic biomarker in noise-induced hearing loss (NIHL) in a laboratory animal model.

Methods: The study was carried out with a total of 28 female albino rats in 4 groups: group 1 (control group) included rats that were not exposed to noise or any study treatment; in group 2, following noise exposure, rats received 2 mg of dexamethasone per kilogram of body weight via the intramuscular route for 5 days; in Group 3, rats were exposed to noise and received a saline solution for 5 days, in a volume (0.15 cc) matched to that of dexamethasone administered in group 2; and in group 4, rats were exposed to noise, and blood samples were collected during the early phase to assess thiol-disulfide homeostasis without administering any treatment.

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.

Comparison of Total Endoscopic Ear Surgery and Microscopic Postauricular Canal-Wall-Down Approach on Primary Acquired Cholesteatoma.

This study aimed to compare total endoscopic ear surgery (TEES) and microscopic postauricular canal-wall-down tympanomastoidectomy (CWD) in cholesteatoma surgery in our clinic. This study included 59 patients, of whom 30 and 29 were operated on with CWD in 2016-2018 and TEES in 2019-2021, respectively and compared regarding intraoperative findings, hearing outcomes, long-term outcomes, and recidivism rates between groups. This study excluded patients in stage IV according to the European Academy of Otology and Neurotology/Japan Otological Society Staging System on Middle Ear Cholesteatoma, aged < 18, with congenital cholesteatoma, who underwent revision surgery.

Comparison of Conventional Technique with Suture Fixation and Subperiosteal Tight Pocket Technique on Revision Cochlear Implantation Rate.

Several fixation methods have been described to secure the cochlear implant's receiver/stimulator, but the optimal stabilization technique is still being debated. The aim of this study was to compare the conventional technique with suture fixation to the subperiosteal tight pocket technique in terms of revision cochlear implantation rate. A retrospective review was conducted on the medical records of 649 patients who underwent cochlear implantation.

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.

Diagnostic yield of head-up tilt table test in hypertrophic cardiomyopathy and unexplained syncope: the knot does not seem to be unraveling.

Background: Conflicting results have been published considering the diagnostic performance of head-up tilt test (HUTT) in patients with hypertrophic cardiomyopathy (HCM). We aimed to conduct a meta-analysis to evaluate the diagnostic value of HUTT in the evaluation of unexplained syncope in patients with HCM.

Methods: We performed a structured systematic database search using the following keywords: hypertrophic cardiomyopathy, syncope, unexplained syncope, head-up tilt test, tilt table test, tilt testing, orthostatic stress, autonomic function, autonomic response.