Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.

NALCN channelosome complex contributes to maintaining resting membrane potential. The complex has four domains including two intracellular domains (UNC79 and UNC80), one transmembrane domain (NALCN) and one extracellular domain (FAM155A). Mutations in UNC80 were previously linked to infantile hypotonia with psychomotor retardation and characteristics facies 2.

Antinuclear antibody testing in a Turkish pediatrics clinic: is it always necessary?

Introduction: The term anti-nuclear antibody (ANA) is used to define a large group of autoantibodies which specifically bind to nuclear elements. Although healthy individuals may also have ANA positivity, the measurement of ANA is generally used in the diagnosis of autoimmune disorders. However, various studies have shown that ANA testing may be overused, especially in pediatrics clinics.

Role of G-proteins and phosphorylation in the distribution of AGS3 to cell puncta.

Activator of G-protein signaling 3 (AGS3, also known as GPSM1) exhibits broad functional diversity and oscillates among different subcellular compartments in a regulated manner. AGS3 consists of a tetratricopeptide repeat (TPR) domain and a G-protein regulatory (GPR) domain. Here, we tested the hypothesis that phosphorylation of the AGS3 GPR domain regulates its subcellular distribution and functionality.

Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis.

Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo-epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile idiopathic arthritis (JIA), both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic interventions.

Evaluation of subclinical inflammation in familial Mediterranean fever patients: relations with mutation types and attack status: a retrospective study.

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease of childhood and adulthood. Development of systemic amyloidosis and frequent attack influence quality of life and survival. There is sporadic evidence indicating subclinical inflammation in patients with FMF.

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF.

Methods: In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened.

Detection and spread of oxa-48-producing Klebsiella oxytoca isolates in Istanbul, Turkey.

Five OXA-48 producing Klebsiella oxytoca strains isolated in April-July 2010 were analyzed. Antibiotic susceptibility tests were performed using disc diffusion method and VITEK 2 system. Carbapenemase activity was investigated using the Modified Hodge test.

The distribution of exon 3-deleted/full-length growth hormone receptor polymorphism in the Turkish population.

Objective: The exon 3-deleted/full-length (d3/fl) growth hormone receptor (d3/fl-GHR) polymorphism has been associated with responsiveness to GH therapy in some children and also with adult height variation in the general population. We aimed to evaluate the distribution of d3/fl-GHR polymorphism in a Turkish population.

Methods: The study included 477 (54 females/423 males) healthy adults with a mean±SD age of 31.

Ferritin and iron levels in children with autistic disorder.

Unlabelled: Iron has an important role on cognitive, behavioral, and motor development. High prevalence of iron deficiency has been reported in autism. The aim of this study was to investigate iron status in a group of children with autistic disorder.

Comparison of lipid profiles with APOA1 MspI polymorphism in obese children with hyperlipidemia.

Background: Obesity is a multifactorial, chronic disorder leading to adverse metabolic effects on plasma lipid levels. Apolipoprotein AI (Apo AI) is the major structural component of high-density lipoprotein (HDL) and is involved in the esterification of cholesterol as a cofactor of lecithin-cholesterol acyltransferase (LCAT) and thus plays a major role in cholesterol efflux from peripheral cells. The APOA1 gene is associated with changes in lipid metabolism.

Acute pericarditis and transient erythroblastopenia associated with human parvovirus B19 infection.

We report on an eight-year-old girl with acute pericarditis and transient erythroblastopenia associated with human parvovirus B19 (PVB19) infection. The patient presented with complaints of fever, chest pain, fatigue, and shortness of breath. On physical examination, she had tachycardia, hepatomegaly, and muffled heart sounds.