Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.

Objectives: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression of the paternal copy of the imprinted genes on chromosome 15q11-q13. A variety of findings have been reported on the phenotypic differences between the genetic subtypes of PWS. This article compares the clinical findings of 57 PWS patients by genetic subtype and explores possible associations in this context.

Does metabolic control of the disease related with bone turnover markers in children with type 1 diabetes mellitus in Turkey?

Background: The aim was to evaluate the effect of metabolic control on bone biomarkers in children with type I diabetes.

Materials And Methods: The children were divided into two groups according to their glycated hemoglobin (HbA1c) (%) levels: a group with HbA1c levels < 8% (n = 16) and: a group with HbA1c levels > 8% (n = 18). The serum total oxidative status (TOS) (µmol/L), total antioxidant status (TAS) (mmol/L), alkaline phosphatase (ALP) (IU/L), osteocalcin (OC) (ng/ml), procollagen type-1-N-terminal peptide (P1NP) (ng/ml), and vitamin D (IU) levels and food consumption frequencies were determined.

Evaluation of the nutritional status of children with type 1 diabetes and their healthy siblings.

Background: Although there are studies evaluating the psychological adjustment of healthy children when their siblings have type 1 diabetes mellitus (T1DM), no study evaluating their nutritional status exists. Thus, this study aimed to determine the nutritional status of children with T1DM and their healthy siblings.

Material And Methods: Data from a control group, healthy siblings, and patients who were followed and treated for T1D in the Paediatric Gastroenterology and Paediatric Endocrinology outpatient clinics of the Health Sciences University Gülhane Medical Faculty between November 2019 and November 2020 were analysed and compared.

The Relationship Between Premature Adrenarche and Platelet Aggregation.

Objective: Premature adrenarche (PA) has been associated with an increase in adrenal androgens, and the hyperandrogenic hormonal environment is known to lead to increased platelet (PLT) aggregation. Here, we evaluated the effects of PA on PLT aggregation in PLT-rich plasma samples from female patients.

Methods: The study included 40 female patients diagnosed with PA between February, 2014 and June, 2018 and 30 healthy female individuals as a control group.

Mosquito hypersensitivity may be associated with atopic background in children.

Background: Many children encounter unusual or "exaggerated" reactions such as large local, atypical or systemic reactions after mosquito bites.

Objective: The aim of this study was to document the clinical features of children with mosquito allergy and investigate the possible associations between demographic features and type of reactions in this population.

Methods: Children with large local or unusual reactions after mosquito bites who attended to our outpatient pediatric allergy department were enrolled in the study along with control subjects.

Children's Power of Food Scale: Turkish validity and reliability study.

Objective: The aim of the present study was to validate the Turkish version of the Children's Power of Food Scale (C-PFS-T) after translation of the original version.

Design: The data were collected via face-to-face interviews using the C-PFS-T and a socio-demographic information form. BMI was calculated by dividing body weight by the square of the height.

Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism.

Introduction: Sleep-disordered breathing (SDB) is common in children with PWS. In the current study, we aimed to evaluate the severity of SDB in patients with PWS using polysomnography (PSG), and assess the effect of the underlying genetic mechanism on PSG parameters.

Methods: Children with PWS, referred to our sleep laboratory between March 2016 and January 2020 were enrolled.

Evaluation of the resilience of the girls with central precocious puberty treated with gonadotropin-releasing hormone analog.

Objectives: The aim of this study was to evaluate the resilience of girls with central precocious puberty (CPP) during treatment with a gonadotropin-releasing hormone agonist (GnRHa) and compare these results with their healthy peers.

Methods: The Connor-Davidson Resilience Scale (CD-RISC) is a self-report scale used to quantify resilience, which is divided into seven subgroups (hardiness, coping, flexibility, purpose, optimism, regulation of emotion and cognition (REC), and self-efficacy). Fifty-one girls with CPP receiving GnRHa treatment and 51 healthy controls were involved in the study.

Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology.

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningitis were ruled out.

Triglyceride-glucose index levels in patients with congenital hypogonadotropic hypogonadism and the relationship with endothelial dysfunction and insulin resistance.

Introduction: The risk of cardiometabolic diseases is increased in patients with hypogonadism. The triglyceride-glucose (TyG) index is a novel surrogate marker of insulin resistance and is associated with cardiovascular diseases. We investigated the TyG index levels and the relationship with endothelial dysfunction and insulin resistance in patients with congenital hypogonadotropic hypogonadism (CHH).

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome.

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey.

Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection.

Association of serum periostin levels with clinical features in children with asthma.

Background: The aim of this study was to investigate the association of serum periostin levels with clinical features in children with asthma.

Methods: Children with physician-diagnosed asthma who attended regularly to an outpatient pediatric allergy and asthma center were enrolled in the study along with control subjects. Asthma severity and control status of the patients were evaluated according to the recent GINA guidelines.

Effect of adherence to carbohydrate counting on metabolic control in children and adolescents with type 1 diabetes mellitus.

Purpose: Carbohydrate counting provides better glycemic control and flexibility than other food planning methods. Consistent adherence to such a complex method is difficult, especially for youth. However, studies that determine adherence to this method and whether it alters metabolic control are limited.

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.

Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the gene, whereas KS 2 is an X-linked disorder caused by mutations in the gene. In the majority of KS patients who present with hypoglycemia, is the defective gene.

Two Subsequent Metachroneus Solid Tumors: Oncocytic Variant Adrenocortical Carcinoma and Rhabdomyosarcoma of Childhood: Case Report and Literature Review.

Most cases of malignancies appear to be sporadic, but some syndromes are associated with malignancies with germline variants. Herein, a child with an unusual association of oncocytic variant adrenocortical carcinoma (ACC) and rhabdomyosarcoma (RMS) was presented. An 18-month-old-boy was admitted with virilization of the genital area, penis enlargement and erection, which had begun six months earlier.

Nationwide Turkish Cohort Study of Hypophosphatemic Rickets.

Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options.

Methods: Here we present nationwide initial and follow-up data on HR.

Management of Thyrotoxicosis in Children and Adolescents: A Turkish Multi-center Experience.

Objective: To determine the demographic and biochemical features of childhood and juvenile thyrotoxicosis and treatment outcome.

Methods: We reviewed the records of children from 22 centers in Turkey who were diagnosed with thyrotoxicosis between 2007 to 2017.

Results: A total of 503 children had been diagnosed with thyrotoxicosis at the centers during the study period.

Morning vs. bedtime levothyroxine administration: what is the ideal choice for children?

Background The present study compared the administration of levothyroxine (LT4) before breakfast and bedtime in school children diagnosed with hypothyroidism and analyzed the effects of timing on thyroid functioning and patient satisfaction. Methods A total of 163 children with acquired hypothyroidism (125 females and 38 males) between 8 and 18 years of age and taking LT4 for at least 3 months were enrolled in the study. The timing of administration of the drug of all subjects was shifted to bedtime.

Vitamin D status and premature adrenarche.

Background: Vitamin D, an important factor in calcium-phosphate homeostasis, has recently been suggested to play an important role in the pathogenesis of numerous chronic conditions such as hyperandrogenism. The aim of this study was to investigate the relationship between vitamin D status and premature adrenarche (PA).

Methods: A total of 71 girls with PA and 52 healthy girls, as the control group, were recruited.

Perinatal risk factors for asthma in children with allergic rhinitis and grass pollen sensitization.

Background: Results of epidemiologic studies have determined several risk factors for asthma in school-age children.

Objective: To examine whether parental and perinatal risk factors, along with infantile feeding patterns, were associated with asthma in children with grass pollen allergy and allergic rhinitis.

Methods: We retrospectively analyzed the data of our cohort, which consisted of children with allergic rhinitis.

Relation of insulin resistance to neurocognitive function and electroencephalography in obese children.

Background: Childhood obesity may lead to neuronal impairment in both the peripheral and the central nervous system. This study aimed to investigate the impact of obesity and insulin resistance (IR) on the central nervous system and neurocognitive functions in children.

Methods: Seventy-three obese children (38 male and 35 female) and 42 healthy children (21 male and 21 female) were recruited.

Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.

Background: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed.

Methods: This multicenter, nationwide web-based study collected data.

Results: The mean age was 9.