نتایج جستجو برای: facioscapulohumeralmuscular dystrophy
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how to cite this article: nilipor y, shariatmadari f, abdollah gorji f, rouzrokh m, ghofrani m, karimzadeh p, taghdiri mm, delavarkasmaei h, ahmadabadi f, bakhshandeh bali mk, nemati h, saket s, jafari n, yaghini o, tonekaboni sh. evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. iran j child neurol. 2013 spring;7(2):17-21. obje...
Background: Reflex Sympathetic Dystrophy Syndrome (RSDS) is a rarely described complication which characterized by pain, edema, movement and vasomotor disorders, trophic changes in the skin and patchy demineralization of bone in extremities. There are numerous risk factors such as trauma, surgery, myocardial infraction and drugs. Cyclosporine (CsA) is one of the drugs which can induce RSDS. Ca...
how to cite this article: karimzadeh p, ghazavi a. comparison of deflazacort and prednisone in duchenne muscular dystrophy. iranianjournal of child neurology 2012;6(1):5-12. objective duchenne muscular dystrophy (dmd) is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. no cure is yet available for dmd, but the use of steroids impro...
purpose: to evaluate changes in indications of corneal transplantation at labbafinejad medical center during 2001-2003. methods: records of 563 from 684 patients who had undergone corneal transplantation from oct. 2001 to oct. 2003 were evaluated. all the procedures were performed by corneal surgeons and fellows. findings: there were 292 male (51.9%) and 217 female (48.1%) subjects ranging in a...
Onychomycosis is a common nail disorder. If left untreated, it may cause nail deformity and nail plate dystrophy. Since nails have aesthetic importance, onychomycosis may have some impact on quality of life by causing a change in the appearance of nail and/or nail dystrophy and by interfering with fine activities carried out by hand. The aim of this review is to evaluate the quality of life in ...
facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...
Turner syndrome is a commonly encountered chromosomal disorder affecting females, while Duchenne muscular dystrophy severe X-linked recessive males. Although theoretically possible, very few cases of DMD associated with have been reported. We report an 8 year old girl who presented rare association mosaicism (45X/46XringX) dystrophy.
objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...
Occult macular dystrophy is characterized by a slowly progressive bilateral reduction of visual acuity in patients with normal fundus and fluorescein angiography. We describe case 36-year-old male patient diagnosed this condition, after extensive investigation multimodal imaging, electrophysiology tests, systemic screening. dystrophy: brief literature review
background and objective: becker muscular dystrophy (bmd) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. the frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. the diagnostic panel composed of serum ceratin kinase (sck) measurement, electromyography (emg), and as a major co...
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