نتایج جستجو برای: clinical manifestations
تعداد نتایج: 1191103 فیلتر نتایج به سال:
Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abn...
Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...
Background: Helicobacter pylori (H.pylori) infection has an important role in promoting gastrointestinal disease in human. It may be acquired early in life, particularly in developing countries. The aim of this study is to evaluate the association between H.pylori infection and clinical manifestations in Iranian children.Materials and Methods: In this retrospective, cross-sectional study, H. py...
miliary tuberculosis (tb) is due to hematogenous spread of mycobacterium tuberculosis. clinical manifestations are nonspecific and protean, depending on the predominant site of involvement.we evaluated the clinical manifestations of 15 patients with miliary tb. the diagnosis of miliary tuberculosis was based on the identification of miliary nodules on chest radiography and one of the three foll...
Âpert syndrome is a case syndrome with an incidence of about 16 in 1,000,000 live births. Ït is classified with the Âcrocephalosyndactyly syndromes, which is cranyosynostosis in combination with syndactyly in hands and feet. The other common clinical manifestations in Âpert Syndrome are acrocephaly, Turibrachycephaly, syndactyly on hands and feet, wide Tumb, ante mongoloid polpebral fissure, ...
Background: Systemic Lupus Erythematosus (SLE) is a prototypic autoimmune disease with diverse clinical manifestations in association with autoantibodies to components of the cell nucleus. SLE as a chronic autoimmune disease has a worldwide distribution. There is a wide variation in the natural history of SLE among different ethnic and geographic groups. Our SLE registry is one of the largest s...
abstract introduction: cervical cancer is one of the major causes of cancer and death among women aged 40 to 60 in developing countries. there is some difference, however, in the incidence of this cancer in iranian women compared to women living in western and south-east asian countries. we aimed at investigating the epidemiologic aspects and treatment results of cervical cancer among iranian...
Celiac disease (CD) is defined as a permanent intolerance to gluten with clinical manifestations and abnormal small intestinal mucosa. A case series study was performed to obtain information about clinical manifestations, age of presentation and diagnosis of CD. For this purpose, hospital records of patients who were admitted to the gastrointestinal ward in the Children's Medical Center from 1...
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