Aynur Ayşe Karaduman

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Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We previously localized a gene for a subset of NCIE to chromosome 3 (designated "the NCIE2 locus"), in six families. Lipid droplets were found in(More)
STUDY DESIGN The cultural adaptation of Neck Disability Index (NDI), the validity and reliability of Turkish version. OBJECTIVE The aim of this study was to conduct a study concerning the cultural adaptation of NDI and investigate the validity and reliability of its Turkish version in patients with neck pain. SUMMARY OF BACKGROUND DATA The NDI is a(More)
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we(More)
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000).(More)
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first gene for LI, transglutaminase TGM1, has been identified on(More)
PURPOSE The aim of this study is to determine the architectural barriers of children with Muscular Dystrophy at home according to their diminished functional capacity and its effect on their mother's back problem. METHOD Twenty children with Muscular Dystrophy (11.1 +/- 4.14 years) were evaluated with Brooke Scale and WeeFIM. Quebec and Oswestry(More)
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas(More)
BACKGROUND The prevalence of analgesic intolerance (AI) is less than 1% in the general population and about 10% in adult asthmatics, in whom the disease tends to be more severe. OBJECTIVE A possible clinical-laboratory marker was sought that would differentiate patients who have AI with/without asthma, AI with asthma, and AI without asthma from the(More)
Monomelic amyotrophy (MMA) is a benign motor neuron disease characterized by neurogenic amyotrophy, which usually affects one of the upper or lower extremities. Progression is slow and symptoms are clinically stable. Symptoms are seen in the second or third decades of life. In this study, we present a seven-year-old girl who was diagnosed and directed to(More)
BACKGROUND To assess balance and identify the effects of muscle weakness distribution on balance in children with different neuromuscular diseases. METHODS Forty ambulant, pediatric patients with neuromuscular disease were enrolled in the study. Patients were separated into two groups according to muscle weakness distribution as group 1 (proximal) and(More)