نتایج جستجو برای: deficiency syndrome
تعداد نتایج: 738061 فیلتر نتایج به سال:
Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax II, indicating a concomitant specif...
The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency variable degree. All were identified to carry a gain−of−function mutation in BRAF.
The Klinefelter syndrome is most common chromosomal cause of male infertility. However, the many cases of the syndrome remain undiagnosed due to variations in clinical presentation. A patient attended to surgical OPD with complaints of loss of secondary sexual characteristics and infertility. Physical examination revealed tall stature, thin built, small testes size, and absence of beard and pub...
Background. Iron deficiency anemia impacts on cognitive development. The objective of this study was to determine the prevalence of anemia and iron deficiency in children with Down syndrome and identify risk factors for anemia. Methods. We conducted a prolective cross-sectional study of children attending a multidisciplinary Down syndrome medical center. One hundred and forty nine children with...
A girl with the Cohen syndrome and isolated growth hormone deficiency is described. Treatment with biosynthetic human growth hormone resulted in marked catch up growth to normal stature. It is concluded that growth hormone deficiency should be ruled out in patients with the Cohen syndrome and small stature.
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in childhoo...
Background: Vitamin D deficiency (VDD) is prevalent in polycystic ovary syndrome (PCOS) and the relationship between dyslipidemia vitamin status close. This meta-analysis was to evaluate effect of (alone or with co-supplementation) on lipid profile PCOS patients.
1. Liver biopsies from two patients with the Dubin-Johnson-Sprinz syndrome were subjected to analytical subcellular fractionation by sucrose-density-gradient centrifugation and enzymic microassays. 2. A selective deficiency of mitochondrial superoxide dismutase has been demonstrated in these patients. 3. The significance of this enzyme deficiency is discussed in relation to the organelle pathol...
To compare the regional differences in TCM syndromes of patients with coronary heart disease (CHD) between North and South China. A total of 624 patients with a diagnosis of CHD, confirmed by coronary angiography, were included in the comparative analysis to determine the occurrence pattern, characteristics of TCM syndrome distribution, and differences in syndrome combinations and major syndrom...
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