نتایج جستجو برای: deficiency syndrome
تعداد نتایج: 738061 فیلتر نتایج به سال:
Hypogonadism or Testosterone Deficiency (TD) in adult men as defined by low levels of serum testosterone accompanied by characteristic symptoms and/or signs as detailed further on can be found in long-recognized clinical entities such as Klinefelter syndrome, Kallmann syndrome, pituitary or testicular disorders, as well as in men with idiopathic, metabolic or iatrogenic conditions that result i...
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients...
Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There ...
objectives: the onset of multiple sclerosis in the majority of the cases occurs as a clinically isolated syndrome (cis). we sought to assess serum levels of 25-hydroxyvitamin d (25-ohd) in cis patients and healthy controls. methods: in this cross-sectional study 40 patients (36 women and 4 men) with cis manifesting as a single isolated optic neuritis and 40 age- and sex-matched healthy controls...
A 9 year old boy with Poland's syndrome (absence of the left pectoralis major muscle associated with an ipsilateral malformation of the hand) and isolated growth hormone deficiency, owing to anatomical abnormalities of the pituitary gland, is described. MRI brain scan showed severe hypoplasia of both the sella and anterior lobe of the pituitary gland with absence of the pituitary stalk and ecto...
Mycobacterium haemophilum was isolated from wrist and ankle aspirates as the organism responsible for tenosynovitis in a patient with acquired immune deficiency syndrome. Mycobacterium isolates recovered from synovial fluid were identified as hemin requiring by their failure to grow on subculture unless the medium was supplemented with hemin. M. haemophilum is of low virulence and rarely associ...
Etiopathogenesis of Plummer-Vinson syndrome is unknown. Abstract Full text PDF 233KB.PlummerVinson syndrome PVS, also called PatersonBrownKelly syndrome or sideropenic dysphagia, is a rare disease characterized by difficulty in. Plummer-Vinson syndrome is characterized by cervical dysphagia, iron deficiency anemia, and upper esophageal web or webs. While this.PO Box 2345, Beijing 100023, China....
Cancer and its treatment can lead in men to testosterone deficiency, accompanied by somatic and mental symptoms. Germ cell tumours and their treatment may disturb the pituitary-gonadal axis, hence leading to significant clinical abnormalities. In some prostate cancer patients, castration, temporary or permanent, is a desired therapeutic condition. Yet, it is burdened with various side effects o...
Human immunodeficiency virus and acquired immune deficiency syndrome AIDS-related hearing disorders.
After a brief discussion of the nature of the human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) disease process and its consequences, the article considers implications for the ear and hearing. One of the newest etiologic considerations for audiologists is pediatric autoimmune deficiency syndrome (PAIDS). Babies born to HIV-AIDS-positive mothers, and children who hav...
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