an investigation was carried out on a young unrelated couple, both 29 years old, with two boys and three girls, 3 months to 8 years old. one boy and the mother were healthy, the other four children and the father were affected. the family, originally from the district of nour, in northern iran, near the caspian sea, was first counseled at the genetic clinic in tehran in 1984. several trips were...

thymoma is the most common neoplasm of anterior mediastinum with incidence peaks during the fourth, fifth and sixth decades of life. two-thirds of patients are asymptomatic and identified accidentally by chest x-rays . of the total, 40-70 % of patients have one or more parathymic syndromes of which myasthenia gravis (mg) is the most common and reported in 10-50% . gullain-barre syndrome (gbs) h...

conclusions there was a significant association between pms scores and the prevalence of metabolic syndrome. further studies are needed to confirm and validate the relationships between lipid profile abnormalities and metabolic disorders with pms. objectives this study was designed to investigate the association of hormonal and metabolic factors with pms among iranian women of reproductive age....

severe overgrowth and tallness is very rare in human beings. the most common cause is gigantism due to the excessive secretion of the growth hormone, especially, before the closure of long bones’ epiphyseal growth plates. there are other rare disorders that are categorized on overgrowth syndromes. herein, we report an extremely rare, or even perhaps a unique, patient from iran. the clinical and...

macrophage activating syndrome (mas) is a life-threatening disease seen in autoimmune diseases including lupus erythematosus, rheumatoid arthritis, still's disease, polyarteritis nodosa. it is characterized by fever, pancytopenia, liver failure, coagulopathy, and neurologic symptoms and high serum ferritin. a 27 yr. old female patient was admitted in shahid mostafa khomeini hospital (tehra...

primary immunodeficiencies (pid) are a group of disorders, characterized by an unusual susceptibility to infections. delay in diagnosis results in increased morbidity and mortality in affected patients. the purpose of this study was to determine the mortality rate of iranian immunodeficient patients referred to children medical center hospital affiliated to tehran university of medical sciences...

superior vena cava (svc) syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. in majority of the cases, svc syndrome occurs due to mechanical obstruction of the svc by extraluminal compression with primary intrathoracic malignancies. however, intraluminal obstruction due to thrombosis can also produce symptoms and signs of svc synd...

in this case report, we present the first diagnosed case of galloway- mowat syndrome in iran. a 7 month old infant boy with microcephaly that had prominently stunted head growth after birth, gastroesophageal reflux, multiple craniofascial characters, hypothyroidism and nephrotic syndrome diagnosed at 5 months of age associated with rapid decline in renal function and heavy proteinuria in 2 mont...

a female one month old with features supporting a diagnosis of neonatal progeroid syndrome(wrs)  presented to our neonatology section of gb pant children hospital srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.