6 resultados para GARCILASO DE LA VEGA, INCA, 1539-1616


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Boletín semanal para profesionales sanitarios de la Secretaría General de Salud Pública y Participación Social de la Consejería de Salud

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Background. Iodine is an essential trace element implicated in synthesis of thyroid hormones. Iodine requirements vary throughout life. Yhis iodine requirement is increased during pregnancy and breastfeeding. In a previous study carried out by our group in 2008, we detected an iodine-deficient area in the province of Huelva, specially in dictrict Sierra de Huelva-Andévalo by means of neonatal TSH determinations. Objective. To reinforce the iodine supplementation campaign and its impact on their newborns in order to assess nutrition iodine status in 'pregnant women using questionnaire and ioduria determination. Material and methods. This study has been jointly carried out by Congenital Hypothiroidism Unit of the Clinical Biochemistry Department of the Virgen Macarena University Hosplital (Seville) and the Gynecology and Clinical Analysis Unit of the Río Tinto Hospital (Huelva) during two years. We studied 313 pregnant women. All of them filled out a personal questionnaire to know the iodine nutritional status in their area. Ioduria was determined by high-resolution liquid chromatography. Data from pregnant and results of the studied variables were analyzed with SPSS v.13.0. Conclusions. Pregnant women from the sanitary district Sierra de Huelva-Andévalo present a median for ioduria which corresponds to an insufficient iodine intake according to the WHO classification. The questionnaire suggest that this iodine deficiency is consequence of an insufficient iodine intake and a low adherence to the treatment.

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BACKGROUND Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

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En port: Un instrumento de cooperación entre servicios y asociaciones para ganar Salud. Trabajar en clave de Recuperación con la persona afectada y sus familias. Y apoyar la labor de la personas cuidadoras. Es una de las estrategias del proyecto "AL LADO" con... Publicado en la página web de la Consejería de Salud y Bienestar Social: Consejería de Salud y Bienestar Social / Ciudadanía / Participar en Salud / 'Al Lado' con... / 'Al Lado' con las personas afectadas por Esclerosis Lateral Amiotrófica

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Boletín semanal para profesionales sanitarios de la Secretaría General de Calidad, Innovación y Salud Pública de la Consejería de Igualdad, Salud y Políticas Sociales

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Contiene: Cuaderno I: Intervención Integral desde salud ante el maltrato infantil. Enfoque de derechos de la Infancia; y, Cuaderno II: ¿Qué deben saber quienes trabajan en el sistema sanitario sobre el maltrato infantil?