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131.
The congenital adrenal hyperplasia is the commonest cause of ambiguity of the external genitalia at birth, due to classic forms of 21-hydroxylase and 11beta-hydroxylase deficiencies. 3beta-hydroxysteroid dehydrogenase (3betaHSD) is a rare disorder that affects both sexes and female patients may have ambiguous genitalia. Familial glucocorticoid resistance is characterized by increased cortisol secretion without clinical evidence of hypercortisolism, but with manifestations of androgen and mineralocorticoid excess, caused by glucocorticoid receptor gene mutation, and rarely can lead to female pseudohermaphroditism. Placental aromatase deficiency is a rare disease characterized by a masculinized female fetus and a virilized mother, which should be considered in the absence of fetal adrenal hyperplasia and maternal androgen-secreting tumours. Finally, mutations of P450 oxidoreductase causes disordered steroidogenesis with ambiguous genitalia. The investigation of abnormal sexual development requires an initial karyotype analysis and serum 17OH progesterone, 11 deoxycortisol, 17 pregnenolone, and androgen measurements to assess the diagnosis of different forms of congenital adrenal hyperplasia. 相似文献
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GSTM1 null polymorphism at the glutathione S-transferase M1 locus: phenotype and genotype studies in patients with primary biliary cirrhosis.
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Studies were carried out to test the hypothesis that the GSTM1 null phenotype at the mu (mu) class glutathione S-transferase 1 locus is associated with an increased predisposition to primary biliary cirrhosis. Starch gel electrophoresis was used to compare the prevalence of GSTM1 null phenotype 0 in patients with end stage primary biliary cirrhosis and a group of controls without evidence of liver disease. The prevalence of GSTM1 null phenotype in the primary biliary cirrhosis and control groups was similar; 39% and 45% respectively. In the primary biliary cirrhosis group all subjects were of the common GSTM1 0, GSTM1 A, GSTM1 B or GSTM1 A, B phenotypes while in the controls, one subject showed an isoform with an anodal mobility compatible with it being a product of the putative GSTM1*3 allele. As the GSTM1 phenotype might be changed by the disease process, the polymerase chain reaction was used to amplify the exon 4-exon 5 region of GSTM1 and show that in 13 control subjects and 11 patients with primary biliary cirrhosis, GSTM1 positive and negative genotypes were associated with corresponding GSTM1 expressing and non-expressing phenotypes respectively. The control subject with GSTM1 3 phenotype showed a positive genotype. 相似文献
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Au R Seshadri S Wolf PA Elias M Elias P Sullivan L Beiser A D'Agostino RB 《Experimental aging research》2004,30(4):333-358
A previous publication presented normative data on neuropsychological tests stratified by age, gender, and education based on the Original Cohort of the Framingham Heart Study. Many contemporary investigations include subject samples with higher levels of education, a factor known to affect cognitive performance. Secular change in education prompted the reexamination of norms in the children of the Original Cohort. The study population consisted of 853 men and 988 women from the Offspring Study, free of clinical neurological disease, who underwent a neuropsychological examination, which included tests given to their parents in 1974 to 1976 as well as additional newer tests to provide a more comprehensive battery. The Offspring population overall was more evenly distributed by gender and better educated. Their performance on cognitive tests was superior to that of the Original Cohort. Multivariable analyses revealed that more years of education explained only a part of the cohort differences. These findings suggest that continued surveillance of each generation is necessary to document the impact that unique social and economic variables have on cognitive function. Here, the authors provide updated normative data. 相似文献
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Global profiling of Shewanella oneidensis MR-1: expression of hypothetical genes and improved functional annotations 总被引:1,自引:0,他引:1
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Kolker E Picone AF Galperin MY Romine MF Higdon R Makarova KS Kolker N Anderson GA Qiu X Auberry KJ Babnigg G Beliaev AS Edlefsen P Elias DA Gorby YA Holzman T Klappenbach JA Konstantinidis KT Land ML Lipton MS McCue LA Monroe M Pasa-Tolic L Pinchuk G Purvine S Serres MH Tsapin S Zakrajsek BA Zhu W Zhou J Larimer FW Lawrence CE Riley M Collart FR Yates JR Smith RD Giometti CS Nealson KH Fredrickson JK Tiedje JM 《Proceedings of the National Academy of Sciences of the United States of America》2005,102(6):2099-2104
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Sharma A. Keshava S. N. Eapen A. Elias E. Eapen C. E. 《Digestive diseases and sciences》2021,66(6):1780-1790
Digestive Diseases and Sciences - Budd–Chiari syndrome (BCS) is an uncommon condition, caused by obstruction to hepatic venous outflow. It is largely underdiagnosed, and a high index of... 相似文献