schwartz-jampel syndrome, (sjs) is a rare disorder characterized by myotonia, joint contracture, facial dysmorphism and growth retardation, we present three siblings (two sisters and one brother) 19,24 and 27 years old from consanguineous healthy parents with sjs. their clinical features were similar to those previously described. motor and sensory nerve conduction study (ncs) were compatible w...

zellweger syndrome (zs) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. herein, a 3-month-old female with zs is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe h...

objectives: myelodysplastic syndromes (mdss) include a diverse group of clonal bone marrow disorders characterized by ineffective hematopoiesis and pancytopenia. it was found that down regulation of apaf1 , a putative tumor suppressor gene, leads to resistance to chemotherapy and disease development in some cancers. in this study, we investigated the relation of apaf1 methylation status with it...

background and purpose: the increased risk for cognitive defects in individuals affected by metabolic syndrome especially in those patients with cardiovascular disorders is now claimed. we aimed to assess the relationship between cognitive performance and the various components of metabolic syndrome. methods: one hundred and eighteen consecutive individuals aged 30 to 86 years were included int...

a 32-year-old female, gravid two, para one, with cushing’s syndrome (cs) was admitted to our hospital at 25 week of gestation with severe hypercortisolism. basal urinary free cortisol (ufc) was elevated about 10 times above the upper limit of normal in two separate times and plasma cortisol failed to suppress after an overnight 1mg dexamethasone suppression test but adrenocorticotropic hormone ...

the hematological malignancies associated with nephrotic syndrome are mainly hodgkin’s and non-hodgkin’s lymphomas and chronic lymphocytic leukemia. acute myelogenous leukemia (aml) has rarely been described in associated with nephritic syndrome. we report a rare case of acute myelogenous leukemia who presented with nephrotic syndrome. a previously healthy 62-year-old man was admitted in nephro...

conclusions the current study indicated that h. pylori infection occurs at a higher rate in patients with down syndrome and mental retardation. this may provide more reasons to control the transmission of h. pylori among them. results the differences between the groups were compared by t-test and x2 test. seropositivity for h. pylori was significantly higher in patients with down syndrome and m...

how to cite this article: tonekaboni sh, ebrahimi a, bakhshandeh bali mk, houshmand m, moghaddasi m, taghdiri mm, nasehi mm. sodium channel gene mutations in children with gefs + and dravet syndrome: a cross sectional study. iran j child neurol. 2013 winter; 7 (1):25-29.   objective dravet syndrome or severe myoclonic epilepsy of infancy (smei) is a baleful epileptic encephalopathy that begins ...

hyper ige syndrome (hies) is a rare primary immunodeficiency disease. most of hies cases are sporadic. hies type ad is caused by mutation in signal transducer and activator of transcription-3 (stat-3). a number of mosaicism hies has been reported that is associated with intermediate phenotype. autosomal recessive hies (ar-hies) is due to mutation in dock-8 or cytokine sis 8 and tyk2 or tyrosine...

background: phytoestrogens are a group of plants derived compounds with weekly estrogen effect that appear to have protective effects on metabolic and hormonal abnormalities of women with polycystic ovary syndrome (pcos). so the aim of this study was to investigate the effect of soy phytoestrogens on reproductive hormones and lipid profiles in pcos women. methods: in this quasi-randomized trial...