نتایج جستجو برای: hereditary disorder
تعداد نتایج: 666231 فیلتر نتایج به سال:
introduction: maxillary osteomyelitis is a rare phenomenon. if it occurs, evaluation for underlying disease especially osteopetrosis must be considered. osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. case report: this is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis. in this case, the disease represented mainly with fac...
Hereditary angioedema is a rare disorder of complement system which is often seen with autosomal dominant hereditary. Clinical characteristics include non- pruritic and non-pitting mucocutaneous edema that could involve all parts of the body. This study reports seven cases of hereditary angioedema with classical manifestations accompanied by low function of C1INH (type 2). One death occurred du...
Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...
a b s t r a c t “addiction” is a multifaceted complicated disorder with many interrelated causes, as well as environmental and genetic features. several hereditary variables that have an effect on these features might work in together to influence vulnerability and the extent of being an addict. molecular re-sequencing of the latest and formerly researched genes holds a crucial place with regar...
A B S T R A C T “Addiction” is a multifaceted complicated disorder with many interrelated causes, as well as environmental and genetic features. Several hereditary variables that have an effect on these features might work in together to influence vulnerability and the extent of being an addict. Molecular re-sequencing of the latest and formerly researched genes holds a crucial place with regar...
ammonia is a toxic material for mammalians. it is detoxificated and converted to urea in the urea cycle in liver. each defect in the urea cycle cause increase in blood ammonia level. ornithine transcarbamylase enzyme (otc) is the second enzyme in the urea cycle that exists in mitochondria. otc deficiency is the most common hereditary disorder in the urea cycle. in this study, 45 hyper ammonia p...
Background: Data on the frequency of hereditary bleeding disorders (HBDs) and associated mortality and morbidities during a long-term follow-up from Iran are scarce. Objective: This study evaluated the epidemiologic features among patients with HBD in one of the largest referral centers in southern Iran. Methods: In this cross-secti...
Brugada Syndrome (BS) is a hereditary disorder characterized by primary electrical abnormality, absence of structural heart disease, an elevated risk sudden death, polymorphous ventricular tachycardia, and fibrillation, which mainly affects young men
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disorder (estimated prevalence of 1 per 1000–1 2500 live births)1 characterized by development and growth multiple bilateral cysts eventually leading to end-stage renal replacement therapy.1
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