نتایج جستجو برای: mitochondrial cytopathy
تعداد نتایج: 132432 فیلتر نتایج به سال:
Autistic spectrum disorders (ASD) are common neurobehavioral syndromes characterized by deficits in social interactions, impaired communication skills and repetitive stereotypic behaviours expressed by 3 years of age (1). Recent studies of these disorders indicate a strong genetic component but specific aetiologies and pathogeneses are usually unknown (1–3). Concordance for ASD is 90% in identi...
LETTER TO THE EDITOR: Autism is a wide spectrum disorder and a lot of factors play role in the etiology. Autism may accompany some genetic disorders such as fragile X, tuberosclerosis, neurofibromatosis and phenylketonuria [1]. However, the absence of sufficient evidence on the etiological roles of environmental, neuroanatomical and biochemical factors has shifted the direction of research to g...
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA ...
The comprehension of the pathogenesis of epilepsy finds a new impulse in studies on non-linear dynamics of EEG signals and in the growing genetic molecular evidence of the mitochondrial origin of this disease. These data are consistent with the information known by Quantum Biophysical Semeiotics that clinically investigates microcirculation both on a functional (i.e. by studying its non-linear ...
A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mi...
Thirteen children with abnormal mitochondria in muscle tissue, and a progressive neurological disorder that affected the cerebrum, cerebellum, extrapyramidal system, vestibular system, retina, upper motor neuron, lower motor neuron, and musculature, are reported. Other signs and symptoms were short stature, diabetes mellitus, cardiopathy, hypoplastic anaemia, glomerulopathy, and renal tubular d...
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome1 is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.2 The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.2.
BACKGROUND The purpose of this work was to determine the effectiveness and possible complications encountered with bilateral fascia lata lid suspension used to correct blepharoptosis in patients with Kearns-Sayre syndrome. METHODS This was a retrospective study of seven patients with Kearns-Sayre syndrome who had a minimum of 1 year of follow-up. A bilateral fascia lata sling was used to corr...
normal 0 false false false en-us x-none fa background : fahr's disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. no case of fahr's disease with associated cardiac conduction disease has been described in the literature to date. the objective of this case report ...
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