Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.

Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.

Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective SI gene sequencing study.

Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing.

Exploring the Influence of Concurrent Nutritional Therapy on Children with Spinal Muscular Atrophy Receiving Nusinersen Treatment.

Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions on neurological outcomes, particularly motor functions. Methods Thirty-seven genetically diagnosed SMA patients (types 1, 2, and 3) under nusinersen therapy were included in the study.

Emerging trends in pediatric candidemia: mapping the rise in Candida parapsilosis incidence and antifungal resistance in Turkey.

Candidemia is emerging as a significant concern in children, particularly among those with underlying conditions like malignancies or prematurity. The interpretation of epidemiological data on candidemias and their antifungal resistance plays a vital role in aiding diagnosis and guiding clinicians in treatment decisions. From 2014 to 2021, a retrospective analysis was conducted in İstanbul, Turkey; comparing Candida albicans and non-albicans (NAC) spp in both surviving and deceased groups.

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

Background: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings.

Pediatric Gastroenterology Research.

For several decades, before the 19th century, pediatric pathology was considered to be an annex of adult pathology and treated as a secondary matter in medical practice [...

Advancing dentistry: fractal assessment of bone health in pediatric patients with celiac disease using dental images.

Objectives: To assess the effects of a gluten-free diet on bone structure in children with celiac disease using fractal analysis on panoramic radiographs.

Method And Materials: A total of 49 patients with celiac disease aged 6 to 13 years, separated into two groups as previously and newly diagnosed, and a control group of 32 healthy individuals were evaluated. In previously and newly diagnosed patients with celiac disease, body mass index Z-scores were calculated, calcium, alkaline phosphatase, vitamin D3, and parathormone levels were measured, and bone mineral density Z-scores were obtained from dual energy x-ray absorptiometry.

Accuracy Rate of Shear Wave Elastography in Detecting the Liver Fibrosis in Overweight and Obese Children with Hepatosteatosis.

Objective: The aim of this study was to compare the accuracy rate of liver stiffness calculated by shear wave elastography with liver biopsy results in obese and overweight children.

Materials And Methods: Obese and overweight children between 3 and 18 years of age, who had hepatic steatosis and a healthy control group were included in this study. A blood sample was obtained for laboratory tests and shear wave elastography was performed for all subjects.

Nutrition and oral health in children with recently and previously diagnosed celiac disease.

Objectives: To evaluate the nutritional and oral health status of children with previously diagnosed celiac disease (CD) who follow a gluten-free diet and recently diagnosed CD patients.

Materials And Methods: Previously and recently diagnosed groups were formed from children with CD, aged 4 to 15 years. A questionnaire was completed about the children's dental history and nutritional and oral hygiene habits.

Can the Prognosis of COVID-19 Disease Be Determined by Fecal Markers and Cytokines?

The coronavirus disease 2019 (COVID-19) pandemic has affected the entire world, and has a variety of clinical presentations. The aim of this study is to determine the relationships of fecal cytokines and markers with the symptoms and prognosis of children with COVID-19 infection, and to identify noninvasive markers during follow-up. In a cohort of 40 COVID-19-positive children and 40 healthy controls, fecal cytokines and markers were examined in stool samples.

COmparisoN of TastES of Available NutriTional integrated or non-integrated formulas for infants older than 1 year of age with cow's milk allergy: A multicenter, prospective, single blind, cross-sectional observational clinical study (CONTEST Study).

Palatability of the infant formulas lacking cow milk protein formulas is reported by parents to be an important drawback. The purpose of this study is to examine decisions made by mothers of infants having cow milk protein allergy, and physicians concerning the palatability of unflavored extensively hydrolyzed formulas and amino acid-based formulas. We conducted a multi-center, randomized, single-blinded, observational taste study involving 149 pediatricians from gastroenterology and allergy subspecialties at 14 tertiary healthcare units from different regions of Turkey and involving 94 mothers of infants with cow milk protein allergy.

The Role of Telehealth Services in Children with Cystic Fibrosis During Coronavirus Disease 2019 Outbreak.

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Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report.

It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients’ families, the diagnosis of CD remains challenging.

Investigation of Thiol/Disulfide Homeostasis and Ischemia-Modified Albumin Levels in Children with Wilson Disease.

The aim of the present study was to assess thiol/disulfide homeostasis (TDH) parameters and ischemia-modified albumin (IMA) levels in children with Wilson Disease (WD) and to compare them to healthy controls. Based on the inclusion and exclusion criteria, fifteen children with WD and twenty-nine healthy children were enrolled, and serum thiol/disulfide and IMA levels were compared between groups. The mean values of native and total thiols were significantly lower in the WD group than in the control group.

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

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 effects of nutritional status and intervention on pulmonary functions in pediatric cystic fibrosis patients.

Background: Cystic fibrosis (CF) causes malabsorption of nutrients that exacerbate pulmonary problems. Nutritional interventions can improve pulmonary functions. We aimed to evaluate the effects of nutritional intervention in CF patients with malnutrition, and to determine if there is a correlation between nutritional status and pulmonary functions.

The utility of TNF-α, IL-6 and IL-10 in the diagnosis and/or follow-up food allergy.

Background: Several pro-inflammatory and anti-inflammatory mediators play a role in the immunopathogenesis of food allergy (FA). The aim of this study was to investigate the utility of serum biomarkers like interleukin (IL)-10, TNF-α, and IL-6 in the diagnosis and/or follow-up of FA.

Methods: Sixty (25 females, 41.

Diagnosis and management of cow's milk protein allergy in Turkey: Region-specific recommendations by an expert-panel.

Cow's milk protein allergy (CMPA) is the most common type of food-allergy in younger children. Prognosis is usually good, with most children developing tolerance before school age. Children may present with a wide spectrum of symptoms that range from mild to severe; skin reactions such as angioedema and urticaria and gastrointestinal symptoms are the most common presentations of CMPA.

Hepatitis A virus vaccination in childhood-onset systemic lupus erythematosus.

Objectives: Vaccination of systemic lupus erythematosus patients with non-live vaccines may decrease vaccine-preventable infections and mortalities. In the present study, we aimed to compare the immunogenicity and safety of inactivated hepatitis A vaccination in childhood-onset systemic lupus erythematosus and healthy subjects.

Methods: A total of 30 childhood-onset systemic lupus erythematosus and 39 healthy participants who were seronegative for hepatitis A received two doses of the hepatitis A vaccine in a 0- and 6-month schedule.

Prevalence and Clinical Features of Celiac Disease in Healthy School-Aged Children.

Background/aims: The aim of this study was to determine the prevalence of celiac disease (CD) in healthy school-aged children in the northern region of Cyprus and to investigate the existence of potential markers that may accompany CD. This is the first study to measure the prevalence of CD in the northern region of Cyprus.

Methods: This study included 3792 school-aged children who were between the ages of 6 and 10 years between January 2015 and October 2016.