Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases

Objective: To determine the frequency of XY karyotypes among females with complete gonadal dysgenesis (CGD) and to investigate the frequency of both gonadal tumors and SRY mutations. Design: Retrospective study based on data from all patients with CGD seen in our service from 1989 to 2010. Setting: Clinic for disorders of sex development, University Hospital, State University of Campinas. Patient(s): Thirty-two patients with hypergonadotropic hypogonadism, streak gonads, internal and external female genitalia, and normal karyotype (46, XX or 46, XY); 31 were index cases and 29 did not have a previously determined karyotype. Intervention(s): None. Main Outcome Measure(s): None. Result(s): The percentage of XY karyotypes among patients with CGD was 34.5% (10/ 29). Mean age at diagnosis among XYand XX patients was 17.4 years and 19.9 years, respectively. Gonadal tumors were found in 4 of 9 XY girls, and 7 of 10 had SRY gene mutations. Conclusion(s): The previously unreported finding of an elevated frequency of 46, XY karyotype among patients with CGD and the high risk of gonadal neoplasia in such cases indicate that this diagnosis must be kept in mind by clinicians and strengthen the importance of karyotype analysis in females with primary hypogonadism. In addition, the frequency of SRY mutations in XY CGD might be higher than previously considered. (Fertil Steril (R) 2011; 96: 1431-4. (C) 2011 by American Society for Reproductive Medicine.)96614311434SAE-UNICAMP [1/8/2009-31/7/2010]SAE-UNICAMP [1/8/2009-31/7/2010

QUALIDADE DA ÃGUA UTILIZADA EM Saccharum officinarum NO SERTÃO PARAIBANO: RISCOS AO SISTEMA DE IRRIGAÃÃO E AO SOLO

O desenvolvimento agrícola depende da disponibilidade de água, tanto em quantidade quanto em qualidade, além do seu uso adequado, visando aumentar a produtividade e reduzir os impactos ambientais negativos. Nesse sentido, o trabalho teve como objetivo avaliar a qualidade da água utilizada para irrigação na cultura da cana de açúcar no município de Conceição, Nordeste, Brasil, observando os riscos ao sistema de irrigação e ao solo. O experimento foi realizado entre os meses de abril e novembro de 2007, em oito localidades do município de Conceição, com histórico de cultivo da cana de açúcar. Foram coletadas amostras de água para determinação de pH, condutividade elétrica (CE), relação da adsorção de sódio (RAS), cálcio, magnésio, sódio, potássio, cloreto, sulfato, carbonato e bicarbonato. O pH de 78,9% das amostras situou-se acima de 7 e, portanto, caracteriza as águas como de natureza alcalina. As águas expressam baixo risco de salinizarem e de sodificarem os solos

Role of beta(2)-glycoprotein I, LDL-, and antioxidant levels in hypercholesterolemic elderly subjects

The levels of electronegative low-density lipoprotein (LDL-), LDL cholesterol oxidability, and plasma levels of molecular antioxidants and of beta(2)-glycoprotein I (beta(2) GPI) were studied in a group of 10 hypercholesterolemic (HC) and 10 normocholesterolemic (NC) elderly subjects. HC subjects showed significantly higher levels of cholesterol, LDL cholesterol, LDL-, and beta(2)GPI than NC, whereas high-density lipoprotein cholesterol and alpha-tocopherol levels were lower in HC as compared with NC subjects. Correlations among LDL- levels, LDL oxidation lag time, beta(2)GPI, and antioxidant plasma levels were studied in 100 HC elderly subjects. Lag time for in vitro LDL oxidation positively correlated with ubiquinol-10 levels (p = 0.008), but not with other antioxidants studied or beta(2)GPI. LDL- and alpha-tocopherol levels showed an inverse and significant correlation (p = 0.018). beta(2)GPI and LDL cholesterol levels were correlated (p = 0.001), whereas no significance was found between LDL- and beta(2) GPI levels (p = 0.057). the physiological significance of alpha-tocopherol and ubiquinol-10 levels on LDL- levels, and the presence of high levels of beta(2)-GPI, are discussed in terms of protective mechanisms operating during the overall atherosclerosis process.Univ São Paulo, Fac Ciencias Farmaceut, Dept Analises Clin & Toxicol, Disciplina Citol Clin, BR-580 São Paulo, BrazilUniv So Calif, Sch Pharm, Dept Mol Pharmacol & Toxicol, Los Angeles, CA USAUniversidade Federal de São Paulo, Dept Prevent Med, Disciplina Bioestat, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Med, Disciplina Geriatr, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Prevent Med, Disciplina Bioestat, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Med, Disciplina Geriatr, São Paulo, BrazilWeb of Scienc