نتایج جستجو برای: oguchi disease
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case presentation we presented a case of tb lymphadenitis in association with celiac disease that mimicked kfd in a young child. conclusions celiac disease, also known as gluten-sensitive enteropathy and nontropical sprue, is an autoimmune disease with chronic inflammation of small intestine, which is associated with increased risk of tb infection. tb lymphadenitis can mimic kfd. therefore, in ...
case presentation a 28-year old chinese female was treated with carbimazole (cmz) for graves’ disease with hyperthyroidism. two weeks later, she developed myalgia and proximal muscle weakness. investigations showed evidence of myopathy. cmz was stopped and rapid improvement of clinical condition and biochemical parameters ensued. conclusions rapid decrement of thyroid hormone level is recognize...
how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbeh dari s, ahmad abadi f, alaee mr, nemati h, saket s, tonekaboni sh, taghdiri mm, ghofrani m. gm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series) iran j child neurol. 2014 summer;8(3): 55-60. abstract objective gm2-gangliosidosis disease is a rare aut...
A variety of rod opsin mutations result in autosomal dominant retinitis pigmentosa and congenital night blindness in humans. One subset of these mutations encodes constitutively active forms of the rod opsin protein. Some of these dominant rod opsin mutant proteins, which desensitize transgenic Xenopus rods, provide an animal model for congenital night blindness. In a genetic screen to identify...
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Glutamate release from rod photoreceptors is dependent on a sustained calcium influx through L-type calcium channels. Missense mutations in the CACNA1F gene in patients with incomplete X-linked congenital stationary night blindness implicate the Ca(v)1.4 calcium channel subtype. Here, we describe the functional and pharmacological properties of transiently expressed human Ca(v)1.4 calcium chann...
background: in some studies inflammatory bowel disease (ibd) and celiac disease were considered to be associated and some belive that this association may influence the prognosis of ibd. however, there is a cosiderable controversy regarding this association. therefore ,we aimed to assess the association of these two common digestive diseases and evaluate the complications of this association. m...
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