نتایج جستجو برای: hereditary bleeding disorder
تعداد نتایج: 719105 فیلتر نتایج به سال:
Bruising or bleeding in a child can raise the concern for child abuse. Assessing whether the findings are the result of trauma and/or whether the child has a bleeding disorder is critical. Many bleeding disorders are rare, and not every child with bruising/bleeding concerning for abuse requires an evaluation for bleeding disorders. In some instances, however, bleeding disorders can present in a...
Wolman's disease is a rare fatal autosomal recessive hereditary disorder caused by a chromosomal abnormality called "lysosomal acid lipase enzyme" that leads to accumulation of triglycerides and cholesterol esters in different body tissues of neonates. There is another form of the disorder called Cholesterol Ester Storage Disease, which is a benign adult form of it. Diagnosis is based on clinic...
Background & Aim: Bernard-Soulier syndrome (B.S.S) is a rare hereditary bleeding disorder due to molecular defects of platelet GPIb–IX–V. The GPIb-IX-V complex is composed of four chains of GPIbα, GPIbβ, GPIX and GPV. The largest chain of this complex is GPIbα and is responsible for binding to ligand and most of identified mutations belong to this glycoprotein. The aim of this study was...
Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...
WHAT ARE HEREDITARY ATAXIAS? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...
Thalassemia is a preventable hereditary disorder,each of the parent must be autosomal recessive tohave child with serious symptoms majordisease. occurs due to abnormal ordeficient Hemoglobin (an iron containing proteins)in Red Blood cells. Depending upon type ofproteins involved, there are two types ofThalassemia, aThalassemia and (3 12
ABSTRACT: Bovine cutaneous angiomatosis (BCA) is a rare condition characterized by vasoproliferative skin lesions mainly affecting cattle in the northern hemisphere. An eight-month-old Holstein heifer showed two easy-bleeding nodules bulging from epidermis forehead and close to right prescapular region. Skin were within dermis had an irregular surface soft heterogeneous reddish parenchyma compo...
What are Hereditary Ataxias? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...
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