نتایج جستجو برای: 12 receptor deficiency

تعداد نتایج: 1251758  

Introduction: Megaloblasc anemia is an uncommon problem in childhood most frequently associated with vitamin deficiency or gastrointesnal disease. The common causes of megaloblasc anemia are vitamin B12 (cobalamin) deficiency and folic acid deficiency. Familial selecve malabsorpon of vitamin B12 associated with proteinuria firstly was described by Imerslund (1960) and Grasbeck et al (1960)...

Journal: :The Journal of clinical investigation 1998
F Altare D Lammas P Revy E Jouanguy R Döffinger S Lamhamedi P Drysdale D Scheel-Toellner J Girdlestone P Darbyshire M Wadhwa H Dockrell M Salmon A Fischer A Durandy J L Casanova D S Kumararatne

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...

Journal: :Orphanet Journal of Rare Diseases 2006
Ralph Gräsbeck

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...

Fereydoun Azizi,

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...

Journal: :Science Translational Medicine 2021

Clinical and basic studies shed light on the mechanism, diagnosis, treatment of cardiac ryanodine receptor Ca 2+ release deficiency syndrome.

Journal: :Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit 2009
M Shams K Homayouni G R Omrani

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 ...

Journal: :Cancer control : journal of the Moffitt Cancer Center 2003
Lodovico Balducci

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...

Journal: :Journal of clinical pathology 1976
S C Tso

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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