33 research outputs found

    Corrigendum: A Severe Lack of Evidence Limits Effective Conservation of the World's Primates

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    In the originally published version of this article, the author's name, Kathy Slater, was incorrectly spelt in the author list and within the “Author Biographical” section. This has now been corrected online.Additional co-authors: Fabiano R de MELO, P Fan, Cyril C Grueter, Diana C Guzmán-Caro, Eckhard W Heymann, Ilka Herbinger, Minh D Hoang, Robert H Horwich, Tatyana Humle, Rachel A Ikemeh, Inaoyom S Imong, Leandro Jerusalinsky, Steig E Johnson, Peter M Kappeler, Maria Cecília M Kierulff, Inza Koné, Rebecca Kormos, Khac Q LE, Baoguo Li, Andrew J Marshall, Erik Meijaard, Russel A Mittermeier, Yasuyuki Muroyama, Eleonora Neugebauer, Lisa Orth, Erwin Palacios, Sarah K Papworth, Andrew J Plumptre, Ben M Rawson, Johannes Refisch, Jonah Ratsimbazafy, Christian Roos, Joanna M Setchell, Rebecca K Smith, Tene Sop, Christoph Schwitzer, Kathy Slater, Shirley C Strum, William J Sutherland, Maurício Talebi, Janette Wallis, Serge Wich, Roman M Wittig, Hjalmar S Küh

    Prevención primaria de los defectos de cierre del tubo neural

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    LAS ENFERMEDADES RARAS

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    A partir de la década de los 80, las enfermedades raras han ido adquiriendo un lugar prioritario en los programas de salud y en la opinión pública. Se definen como aquellas que tienen una prevalencia menor a 1:2.000 individuos. En general son enfermedades crónicas, invalidantes y en más de un 80% de origen genético. Se estima que existen entre 7.000 y 8.000 enfermedades raras y que afectan al 6-8% de la población. Dada la baja prevalencia específica de cada afección, hay muy poco conocimiento de parte de la comunidad médica en relación a su diagnóstico y manejo. En este artículo se discute la importancia del diagnóstico de precisión, para su adecuado manejo y asesoramiento genético, también se muestra la importancia del trabajo en redes en las enfermedades de baja prevalencia y se destaca el rol fundamental de las agrupaciones de padres y familiares en promover políticas de salud para los afectados

    Herencia no tradicional, no mendeliana

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    Embarazos múltiples y ácido fólico

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    Fetal alcohol syndrome and fetal alcohol effects among children in a secondary nutritional recovery centre Sindrome de alcoholismo fetal y efectos del alcohol sobre el feto: Importancia del diagnóstico precoz y del manejo nutricional

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    Background: Fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE) encompass a pattern of birth defects in persons whose mothers ingested alcohol during pregnancy. People with FAE display fewer of the FAS traits. Aim: To assess the prevalence and features of these affections in a secondary nutritional recovery centre. Patients and methods: All charts of children admitted between 1985 and 1995 were reviewed, and those children diagnosed as having a FAS or FAE by a geneticist were considered for this study. Birth, maternal, social and economic characteristics, psychomotor abilities (using Denver test) and response to nutritional treatment were assessed. Results: During the study period, 1572 infants were admitted to the centre, and 1.97% (70% female) were diagnosed as having a FAS or FAE. These infants were admitted at 11.1 ± 4.5 months of age and discharged after 96.7 ± 58.1 months of hospitalisation. Mean mother's age was 33 ± 7 years, and all belonged to low socioeconomic level

    Síndrome de Neuhausser: Megalocórnea y retraso mental

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    Barber-Say syndrome: further delineation of the clinical spectrum

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    We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern
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