نتایج جستجو برای: 12 receptor deficiency
تعداد نتایج: 1251758 فیلتر نتایج به سال:
Introduction: Megaloblasc anemia is an uncommon problem in childhood most frequently associated with vitamin deficiency or gastrointesnal disease. The common causes of megaloblasc anemia are vitamin B12 (cobalamin) deficiency and folic acid deficiency. Familial selecve malabsorpon of vitamin B12 associated with proteinuria firstly was described by Imerslund (1960) and Grasbeck et al (1960)...
Interferon-gamma receptor ligand-binding chain (IFN-gammaR1) or signaling chain (IFN-gammaR2) deficiency, like interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency, predispose to severe infections due to poorly virulent mycobacteria and salmonella. A child with bacille Calmette-Guérin and Salmonella enteritidis infection was investigated. Mutations in the genes for IFN-gammaR1, IFN-gamm...
Imerslund-Gräsbeck syndrome (IGS) or selective vitamin B(12) (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B(12) deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B(12) therapy and appears in childhood. Other manifestations include failure to thrive and grow, infections and neurological d...
Receptor disorders may produce specific clinical manifestations resembling hypo-or hyper-function of related endocrine gland. Receptor disorders can be divided into five categories: 1)Altered receptor concentration exists in insulin resistance seen in obsity, familial hypercholesterolemia and in testicular feminization. 2) Altered receptor affinity can be seen in fasted obese patients, acromeg...
Clinical and basic studies shed light on the mechanism, diagnosis, treatment of cardiac ryanodine receptor Ca 2+ release deficiency syndrome.
To assess the serum folate and vitamin B12 status in healthy Iranian adults, we designed a population-based cross-sectional study of 1200 individuals aged 20-80 years. Finally 984 participants (507 men and 477 women) were assessed. The mean serum folate was 4.61 (SD 2.40) ng/mL and the mean serum vitamin B12 level was 265.6 (SD 170.9) pg/mL. Overall 1.0% were folate deficient and 25.8% had low ...
BACKGROUND Anemia is an issue of concern in the management of older patients with cancer. In this age group, the incidence and prevalence of both cancer and anemia increase with age. METHODS The clinical consequences and the management of anemia, a common comorbid condition in older patients with cancer, are explored. RESULTS Common causes of chronic anemia include iron deficiency and anemi...
Subnormal red-cell folate values were encountered in 20 of 63 thalassaemic subjects in a population with a low incidence of megaloblastosis. The abnormality was not associated with haematological changes of megaloblastosis and could not be explained on the basis of incomplete liberation of intra-erythrocytic folates, serum conjugase deficiency of vitamin B12 deficiency. Evidence is presented to...
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