perforin gene (prf1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (fhl), an immune disorder of infancy and early childhood. cytotoxic t and natural killer (nk) cell activities are remarkably reduced or ab-sent in fhl patients. we report the first cases of familial hemophagocytic lymphohistiocy-tosis in an iranian family with two siblings. e...

familial amyloid polyneuropathy (fap) type iv (finnish) is a rare clinical entity with challenging neuropathy and cosmetic deficits. amyloidosis can affect peripheral sensory, motor, or autonomic nerves. nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. involvement of cranial nerves and atrophy in facial muscles is a real concern i...

gardner's syndrome is an autosomal dominant inherited disorder. familial polyposis of the colon, osteomas, hypertrophy of the retinal-pigmented layer and a multitude of soft tissue tumors are characteristic features. the syndrome may be presented with colonic or extracolonic symptoms. a 75-year-old male patient presented to al-zahra clinic with diffuse abdominal pain. an abdominal surgery was p...

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 background : pseudohypoaldosteronism type 1 (pha1) is a rare congenital disease of mineralocorticoid resistance which characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive. the clinical presentation of the disease represented mostly during neonatal period with a wide spectrum of symptoms...

The rising incidence of coronary heart disease (CHD) in affluent populations has focused attention onto predisposing risk factors, among them high blood levels of cholesterol and triglyceride. In some inherited disorders characterized by hyperlipidaemia the risk of developing CHD is extremely high, and attempts at preventing CHD should in the main concentrate on these individuals in view of the...

on patients with familial hypophosphataemia, normal control subjects, and patients with vitamin D deficient osteomalacia. Intestinal calcium absorption was similar in patients with familial hypophosphataemia and control subjects. The phosphate tolerance test, which is known to be 'flat' in patients with familial hypophospbataemia, was normal in patients with vitamin D deficient osteomalacia. Th...

A significant number of prisoners experience mental health problems, and adequate social support is one way that facilitates better mental health. Yet, by being incarcerated, social support, particularly family support, is likely to be strained or even negative. In this study, we examine whether familial support--either positive or negative--in-prison and after release affects mental health out...