Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in and .

Objectives: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90-95% of all cases of CAH and caused by the genetic defects of CYP21A2. Other forms include 3-β-hydroxysteroid dehydrogenase deficiency, 11-β-hydroxylase deficiency (11β-OHD) (%5-8), 17-α-hydroxylase deficiency (17α-OHD), and steroidogenic acute regulatory protein () defects (congenital lipoid adrenal hyperplasia) with mutations in , and , respectively.

Detection of Deregulated miRNAs in Childhood Epileptic Encephalopathies.

The term "epileptic encephalopathy" is used to describe a possible relationship between epilepsy and developmental delay. The pathogenesis of developmental encephalopathies, independent of epilepsy, can be defined by genetic control mechanisms. The aim of this study was to investigate the use of miRNAs as serum biomarkers for the determination and discrimination of epileptic encephalopathies.

The Validity and Reliability of the Thanatophobia Scale-Turkish Form: A Psychometric Study Among Nurses.

To examine the validity and reliability of the Thanatophobia Scale-Turkish Form among nurses. This methodological study included 154 nurses. Content and construct validity, item analysis, confirmatory factor analysis, and internal consistency were used to evaluate the data.

Ventricular septal defect closure using radial incision of the tricuspid valve for exposure: is it really necessary?

Aim: To evaluate the effects of radial incision of the tricuspid valve in patients who had undergone ventricular septal defect (VSD) closure.

Methods: Overall 173 patients were included in this study between 2012 and 2019. In 44 individuals, a tricuspid valve radial incision (TVRI) was included in the surgical process.

Pediatric Bell's palsy: prognostic factors and treatment outcomes.

Background: Idiopathic facial paralysis or Bell`s palsy is the most common type of peripheral facial paralysis. Children with Bell`s palsy is an uneasy situation for the family and physician with questions about the etiology, treatment options and the healing process. Here, we aimed to compare the epidemiologic features and prognostic factors of patients with Bell`s palsy aged < 18 years.

Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and related epileptic encephalopathy.

Purpose/aim: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)' and whose refractory epileptic seizures were controlled with ketogenic diet.

Outcomes of Eltrombopag Treatment and Development of Iron Deficiency in Children with Immune Thrombocytopenia in Turkey.

Objective: Immune thrombocytopenia (ITP) is a rare autoimmune disease and hematologic disorder characterized by reduced platelet counts that can result in significant symptoms, such as bleeding, bruising, epistaxis, or petechiae. The thrombopoietin receptor agonist eltrombopag (EPAG) is a second-line agent used to treat chronic ITP purpura in adults and children.

Materials And Methods: The present retrospective study evaluated the efficacy, safety, and side effects of EPAG treatment in pediatric patients with acute refractory and chronic immune thrombocytopenia, particularly focusing on iron-deficiency anemia.

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia.

Gazeteci-Tekin H, Demir M, Aktan G, Tekgül H, Gökben S. The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia. Turk J Pediatr 2019; 61: 599-603.

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.

Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program.

Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children.

Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results.

Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level >10.

Higher Intraocular Pressure Levels Associated With Lower Hysteresis In Type 2 Diabetes.

Aim: To investigate the differences of corneal biomechanic characteristics using Ocular Response Analyzer (ORA, Reichert; USA) on type 2 diabetics and healthy subjects.

Methods: One hundred eyes of 100 subjects (between the ages of 17-91) who applied to Adnan Menderes University's Ophthalmology Clinic between January-March 2015 were included in this study, 50 diabetics (Group 1) and 50 healthy controls (Group 2). The eyes included in the study were randomly chosen.

Evaluation of polyneuropathy and associated risk factors in children with type 1 diabetes mellitus.

Background/aim: Diabetes mellitus (DM) is one of the most common metabolic diseases seen in the world today. Diabetic neuropathy (DN) is a chronic complication of the disease that is rarely reported in children, since it has a relatively longer latency period. Our main objective in this study is to determine the incidence rate of DN in pediatric DM patients and assess the risk factors associated with DN.

Clinical accuracy of non-contact infrared thermometer from umbilical region in children: A new side.

Measurement from axillary site with digital thermometer has been accepted as the most accurate method. But this method is time consuming. Tympanic and forehead measurements are often used but don't always seem to be more appropriate.

Bacterial agents causing meningitis during 2013-2014 in Turkey: A multi-center hospital-based prospective surveillance study.

This is an observational epidemiological study to describe causes of bacterial meningitis among persons between 1 month and 18 y of age who are hospitalized with suspected bacterial meningitis in 7 Turkish regions. covering 32% of the entire population of Turkey. We present here the results from 2013 and 2014.

Comparison of the efficacy of once- and twice-daily colchicine dosage in pediatric patients with familial Mediterranean fever--a randomized controlled noninferiority trial.

Background: In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF).

Methods: In this 24-week, multicenter, randomized controlled noninferiority trial, pediatric patients newly diagnosed with FMF carrying a homozygous or compound heterozygous mutation and not receiving any treatment were included. Patients were randomly assigned using a block randomization method to receive treatment with a once- or twice-daily dosage.

Guillain-Barre syndrome in a 7-month-old boy successfully applied plasma exchange.

Despite being the most common cause of acute flaccid paralysis in children Guillain-Barré syndrome has a low incidence under 18 years old, and is even rarer under the age of 2. Established treatment regimens include intravenous immunoglobulin and plasma exchange in older children and adults. However very limited data are available for the efficacy and safety of plasma exchange in infants younger than 12 month-old.

Coexistence of hereditary angioedema in a case of familial Mediterranean fever with partial response to colchicine.

Hereditary angioedema (HAE) is a very rare and potentially life-threatening genetic disease characterised by episodes of edema in various parts of the body, including the extremities, face, and airway. The disease is usually associated with attacks of abdominal pain. On the other hand, familial Mediterranean fever (FMF) is an inherited condition characterised by recurrent episodes of painful inflammation in the abdomen, chest, or joints.

Secondary bacteremia in rotavirus gastroenteritis.

The aim of the study was to determine the frequency of secondary bacteremia in children with rotavirus gastroenteritis and persistence or reemergence of fever. We identified 376 children with a mean of age of 14.2 ± 10.

Liposomal amphotericin B versus pentavalent antimony salts for visceral Leishmania in children.

The aim of this study was to investigate the efficacy of a 21-day schedule of liposomal amphotericin B compared to pentavalent antimony salts in the treatment of patients during a first episode of visceral leishmaniasis. In this study, 17 cases of visceral leishmaniasis admitted to Behçet Uz Children's Hospital between January 2005 and April 2012 were reviewed retrospectively. The study group was composed of 11 males (64.

An infant with acute brucellosis presenting with Coombs-positive autoimmune hemolytic anemia: is breastfeeding guilty for transmission?

Brucellosis is a zoonotic infectious disease that can be transmitted to humans through infected milk and dairy products. There are limited cases with Brucella infection acquired via breastfeeding in infants in the literature. Also, Coombs-positive autoimmune hemolytic anemia as a result of the disease is comparatively rare when considering the other frequent hematologic complications.

The relation of vitamin D deficiency with puberty and insulin resistance in obese children and adolescents.

The prevalence of obesity among children and adolescents has been rapidly increasing in recent years. Obese individuals are at risk for vitamin D deficiency. The aim of this study was to investigate the relation of vitamin D deficiency with puberty and insulin resistance in obese children and adolescents.

Comparison of in vitro activity of ertapenem with other carbapenems against extended-spectrum beta-lactamase-producing Escherichia coli and Kleibsella species isolated in a tertiary children's hospital.

Objective: The purpose of this study was to evaluate the susceptibility of extended-spectrum beta-lactamase (ESBL)-producing Enterobacteriaceae clinical isolates to ertapenem in a tertiary pediatric care center in Turkey.

Design/methods: All isolates of ESBL-producing Enterobacteriaceae were collected from clinical specimens from children, and susceptibility tests were done using the Vitek 2 compact system.

Results: Ninety-nine per cent of the ESBL-producing Escherichia coli isolates were found to be susceptible to ertapenem, 99.