Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

Introduction: Nongoitrous congenital hypothyroidism-6 (CHNG6) is a thyroid hormone resistance syndrome caused by a thyroid hormone receptor alpha () gene mutation, characterized by tissue-specific hypothyroidism and near-normal thyroid function tests. Snijders Blok-Campeau syndrome (SNIBCPS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations in genes, characterized by intellectual retardation, hypotonia, speech problems, and distinctive facial findings.

Case Presentation: We report a 3-year-old dual phenotype Turkish girl with novel variants both in the and genes, presenting with developmental delay, hypotonia, and congenital hypothyroidism.

Evaluation of Growth Hormone Results in Different Diagnosis and Trend Over 10 Year of Follow-up: A Single Center Experience.

Objective: The aim was to evaluate the results of diagnosis, follow-up and treatment of the patients who recieved growth hormone (GH) treatment for the last 10 years and to determine the differences in the process and results over the years.

Methods: Anthropometric, clinical, laboratory data, treatment adherence and side effects were evaluated retrospectively in 767 patients who recieved GH treatment between 2009-2018. Patients were grouped as isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), small for gestational age (SGA), and Turner syndrome (TS) depending on diagnosis.

Cardiovascular evaluation and serum paraoxonase-1 levels in adolescents with polycystic ovary syndrome.

The aim of our study was to evaluate whether cardiovascular disease risks seen in adults with polycystic ovary syndrome (PCOS) develop in adolescents with PCOS using conventional Doppler echocardiography (CDE) and tissue Doppler echocardiography (TDE) or not. The other aim was to investigate the association of paraoxonase-1 (PON-1) level with cardiovascular parameters. 30 PCOS patients and 30 control patients were included in the study.

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey.

Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study.

Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia.

Respiratuvar depression after accidental nasal ingestion of brimonidine eye drops in infant.

Objectives: Brimonidine tartrate is an alpha-2 agonist used for glaucoma treatment. It can lead to serious poisoning symptoms when misused by children.

Case Report: In this case report, 3 months-old male patient with severe central nervous system depression and respiratory arrest as a result of accidentally nasal instillation of 1 cc brimonidine tartrate that benefited from mechanic ventilation and naloxone treatment was presented.

Correlation of mean platelet volume, neutrophil-to-lymphocyte ratio, and disease activity in children with juvenile ıdiopathic arthritis.

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory arthritis characterized by periods of remission and relapse. Mean platelet volume (MPV) is an indicator of systemic inflammation. In the present study, we aimed to determine the association between mean platelet volume (MPV), neutrophil/lymphocyte ratio (NLR), platelet distribution width (PDW) and clinical measures of diseases activity in children with JIA.

Management of intestinal bleeding with single-dose cyclophosphamide in Henoch-Schönlein purpura.

In these case series, we report on six children (3 girls, 3 boys) aged 5-13 years with Henoch-Schönlein purpura (HSP) who developed severe gastrointestinal (GI) bleeding resistant to both 2 mg/kg or pulse (10-30 mg/kg) i.v. methylprednisolone.

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey.

Objective: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey.

Methods: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine.

Urinary early kidney injury molecules in children with beta-thalassemia major.

Background: The aim of this study was to investigate novel urinary biomarkers including N-acetyl-β-D-glucosaminidase (NAG), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and liver-type fatty acid binding protein (L-FABP) in children with β-thalassemia major (β-TM).

Materials And Methods: Totally, 52 patients (29 boys, 23 girls) with β-TM and 29 healthy controls (3-17 years) were included. Various demographic characteristics and blood transfusions/year, disease duration, and chelation therapy were recorded.

Usefulness of mean platelet volume and neutrophil-to-lymphocyte ratio for evaluation of children with Familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of serositis, fever, and rash. Clinical and subclinical inflammatory processes may contribute to atherosclerosis in FMF patients, with mean platelet volume (MPV) as a potential indicator for atherosclerosis risk and neutrophil-to-lymphocyte ratio (NLR) as a marker for subclinical inflammation in these patients. In this study, we investigated whether MPV can be used as an indicator for atherosclerosis risk and if NLR is a marker for subclinical inflammation in FMF patients.

The effects of pomegranate and carvacrol on methotrexate-induced bone marrow toxicity in rats.

Purpose: The aim of this study was to evaluate the effects of pomegranate (PMG) extract and carvacrol (CARV) on methotrexate (MTX)-induced oxidative stress and bone marrow toxicity.

Methods: Wistar albino rats (32 rats) were divided into four groups (n=8): Group 1 was control; Group 2 was given a single intraperitoneal injection of methotrexate (20 mg/kg); Group 3 was treated with carvacrol (73 mg/kg i.p.

The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey.

The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded.

Paraoxonase, total antioxidant activity and peroxide levels in marasmic children: relationships with leptin.

Objectives: The aim of this study was to investigate the oxidant/antioxidant status, paraoxonase (PON) activity and leptin levels in children with marasmic malnutrition.

Design And Methods: Thirty marasmic children (age 14.4+/-10.