Zuhal Yapici

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STUDY QUESTION What is the prevalence, phenotype and metabolic features of polycystic ovary syndrome (PCOS) in the same population according to three different diagnostic criteria? SUMMARY ANSWER The prevalence of PCOS under National Institutes of Health (NIH), Rotterdam and Androgen Excess and PCOS (AE-PCOS) Society criteria was 6.1, 19.9 and 15.3%,(More)
Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determine the relative occurrence of sporadic(More)
BACKGROUND Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used for various benign tumours associated with tuberous sclerosis complex. We assessed the efficacy and safety of two trough exposure concentrations of everolimus, 3-7 ng/mL (low exposure) and 9-15 ng/mL (high exposure), compared with placebo as adjunctive therapy for(More)
OBJECTIVES Transcranial direct current stimulation (tDCS) is a non-invasive and safe method tried in drug-resistant epilepsies, in recent years. Our aim was to evaluate the effect of tDCS in patients diagnosed with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) which is a well-known drug-resistant focal epilepsy syndrome. PATIENTS AND(More)
PURPOSE To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric aciduria (L2HGA) and to evaluate the correlation between imaging abnormalities and disease duration. MATERIALS AND METHODS MR images in 56 patients (30 male, 26 female; mean age +/- standard deviation, 11.9 years +/- 8.5) with genetically confirmed(More)
The aim of this study was to evaluate the effectiveness of different oral carbohydrate solutions for alleviation of pain in healthy preterm babies. Thirty-one preterm infants who were having blood drawn by heel prick were given 2 ml of solution A (20% sucrose), solution B (20% glucose) or solution C (placebo, sterile water) into the mouth, 2 min before(More)
Mutated measles virus variants have been claimed as the causing agent for subacute sclerosing panencephalitis (SSPE) developing several years after the recovery from measles infection. However, immune dysfunction may be considered related to a genetic susceptibility to this rare disease. Interleukin (IL)-2 -330 (rs2069762) and +160 (rs2069763), IL-12 p40 3′(More)
AIM Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias. METHOD Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has been discussed. RESULTS In two of the families, the parents were consanguineous. Walking was delayed in all(More)
Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We(More)
OBJECTIVE To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology. METHODS Whole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed(More)