Turkish Journal of Pediatrics

Classical clinical triad of hemolytic uremic syndrome (HUS) is microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury associated with endothelial cell injury. Several situations, including infections, medications, malignancies, and transplantation can trigger endothelial damage. On the HUS spectrum, atypical hemolytic uremic syndrome (aHUS) deserves special attention in pediatric patients, as it can cause endstage kidney disease and mortality. A dysfunction in the alternative complement pathway, either acquired or genetic, has been shown to be the main underlying cause...

BACKGROUND: Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without extrahepatic bile duct obstruction. A mutation in the USP53 gene is known to cause BRIC-like cholestasis with normal serum gamma-glutamyltransferase (GGT) levels. CASE: We report a 16-year-old boy with recurrent episodes of cholestasis since 6 months of age with normal serum GGT levels. The liver biopsy showed ballooning degeneration of hepatocytes which is typical for BRIC, and intrahepatic and canalicular cholestasis with bilirubinostasis...

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BACKGROUND: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of pathological neurological features. We present a novel mutation in the SGPL1 gene causing hypocalcemia, primary adrenal insufficiency (PAI), nephrotic syndrome, subclinical hypothyroidism, lymphopenia, ptosis, and pathologic neuroimaging findings...

BACKGROUND: Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial oxidative phosphorylation system. Death usually appears in the first weeks or years of lifespan. CASE: We report a male patient with ventriculomegaly diagnosed in the 8th month of pregnancy. The delivery was done by caesarean section and respiratory failure occurred immediately after birth...

BACKGROUND: Identification of phytobezoar in childhood small bowel obstruction (SBO) characterized by smallbowel feces sign (SBFS) is still challenging. The aim of our study was to assess the diagnostic performance of quantitative computed tomography (CT) analysis combined with the Acute General Emergency Surgical Severity-Small Bowel Obstruction (AGESS-SBO) scoring system in determining phytobezoar-related SBO. METHODS: Sixteen phytobezoar-related SBO were categorized as the phytobezoar group and the other 19 SBFSpositive SBO was categorized as the control group...

BACKGROUND: The objective of this study was to ascertain disparities in growth and maturation between male adolescents engaged in soccer and their non-athletic counterparts, as well as to examine the injury features specific to young soccer players. METHODS: A total of 206 soccer players between the ages of 11-16 years, and 208 non-athletic peers were enrolled. Height, weight, body mass index (BMI), annual growth rate, and skeletal age evaluated using a left handwrist x-ray were determined...

BACKGROUND: In this study, we aimed to evaluate choices and changes of biologic drugs in juvenile idiopathic arthritis (JIA) patients according to disease subtypes. METHODS: We retrospectively analyzed JIA patients who received biologic treatment between January 2004 and July 2022. RESULTS: Of 294 JIA patients, 80 (27.2%) had systemic JIA, 68 (23.1%) had oligoarticular JIA, 61 (20.7%) had polyarticular JIA, 79 (26.9%) had enthesitis-associated arthritis (ERA), and six (2...

BACKGROUND: Familial Mediterranean fever (FMF) is the most common and autosomal recessive inherited autoinflammatory disease. The most common signs and symptoms are fever, abdominal pain, chest pain, and arthritis. The aim of this study was to describe the clinical, laboratory and genetic differences between pediatric FMF patients with and without chest pain. METHODS: Between January 2006 and January 2022, 1134 patients with FMF were analyzed retrospectively. Patients were divided into two groups including those with and without recurrent chest pain...

BACKGROUND: Early diagnosis of pediatric sepsis is difficult, so it is necessary to find a reliable auxiliary diagnostic method. The purpose of the study was to assess the role of RDW in the diagnosis of pediatric sepsis. METHODS: We did a case control study reviewing pediatric inpatients (≥28 days, < 18 years old) who were diagnosed with sepsis between April 2020 and November 2022. According to the sepsis-3 and Pediatric Sequential Organ Failure Assessment (pSOFA) scoring standards, 66 septic inpatients of the pediatric intensive care unit (PICU) were included in the sepsis group and 66 non-septic inpatients of the PICU were included by using the random sampling method during the same period as the control group...

BACKGROUND: In a screening study conducted on adults, the prevalence of sickle cell traits in Antalya was found to be 0.24%. Since no screening studies have been conducted in the neonatal period in our region, the exact incidence has not been determined. In this study, we aim to report our experience of neonatal screening for sickle cell disease in Antalya, Türkiye. METHODS: During a 14-month period, 2562 heel prick blood samples, taken on filter paper from Akdeniz University Hospital, Antalya Education and Research Hospital and Antalya Atatürk State Hospital and four other healthcare centers, were studied using the high pressure liquid chromatography method...

BACKGROUND: Feeding difficulties continue to be a serious problem in newborns with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH). The aim of this study was to investigate the efficacy of oral motor interventions (OMI) on feeding outcomes in neonates with HIE/TH. METHODS: This was a prospective randomised control study conducted between January 2022 and September 2022. Premature Infant Oral Motor Intervention (PIOMI) was used as OMI...

BACKGROUND: The increased survival of patients with congenital heart disease over the last three decades has been associated with improvements in diagnosis and treatment. This study aimed to evaluate therapeutic interventional catheterization, outcomes and complications of these procedures in neonates and premature infants. METHODS: In this study, therapeutic catheterization procedures performed on neonates and premature infants with congenital heart disease at a university hospital between February 2000 and October 2019 were retrospectively evaluated...

BACKGROUND: Nutritional vitamin B12 (VB < sub > 12 < /sub > ) deficiency is characterized by anemia, the inability to gain weight, delay or decline in development. Children of mothers with VB < sub > 12 < /sub > deficiency have a risk of nutritional VB < sub > 12 < /sub > deficiency. Prevention and early treatment are necessary to prevent irreversible neurological damage. We aimed to conduct a retrospective study to understand the characteristics of patients with VB < sub > 12 < /sub > deficiency...

BACKGROUND: An assessment of functional gastrointestinal disorders (FGIDs) in premature infants in their first year of life and neonatal factors influencing the progression of FGIDs was conducted in this research. METHODS: Subjects selected for the retrospective study involved preterm infants being hospitalized in the neonatal department of Northern Jiangsu People`s Hospital from September 2018 to September 2021. Data on neonatal risk factors such as gestational age, gender, birth weight, mode of delivery, feeding pattern, antibiotic administration and addition of probiotics, duration of hospitalization, maternal history of smoking, and mental health status, were all collected and analyzed...

BACKGROUND: Acute mastoiditis (AM) is a severe infection of the mastoid air cells that occurs in cases of acute, sub-acute, or chronic middle ear infections. No definitive consensus regarding the management of AM has been identified. The current guidelines include a conservative approach (parenteral antibiotics alone, antibiotics plus minor surgical procedures such as myringotomy with a ventilation tube inserted or drainage of the subperiosteal abscess through retro-auricolar incision or needle aspiration) or surgical treatment (mastoidectomy)...

Atopic dermatitis (AD) is a very common skin disease caused by inflammatory reactions, in which the main symptoms of severe itching and recurrent eczema diminish quality of life. As epidermal barrier function and the immune system play a critical role in atopic dermatitis, promoting IgE-mediated sensitization can be the main targets of AD treatment. The goal of AD treatment should be to eliminate the symptoms and obtain longterm eczema control with a multi-step approach adapted to the severity of the disease...

BACKGROUND: Late-presenting congenital diaphragmatic hernia occurs beyond the neonatal period, and is relatively rare, presenting with nonspecific respiratory and gastrointestinal symptoms. CASE: We report a rare case of late-presenting congenital diaphragmatic hernia in a 7-year-old girl, who presented with abdominal pain, shortness of breath and fever on admission. Work-up revealed intrathoracic gastric perforation, acute pancreatitis and septic shock with a diaphragmatic defect...

BACKGROUND: Intravascular hemolysis is a serious and rare condition in children and causes the release of hemoglobin and heme into circulation, which have proinflammatory properties. These substances lead to inflammation, oxidative stress, apoptosis, and organelle dysfunction that lead to acute kidney injury (AKI). We report a pediatric case diagnosed with hemolysis-associated hemoglobin cast nephropathy due to autoimmune hemolytic anemia. CASE: A 4-year-old boy, who was admitted to another hospital with complaints of fever and dark urine for one day, developed anemia and kidney failure in the follow-up, was referred to our hospital...