Encontrados 5 documentos, a visualizar página 1 de 1
Gestações gemelares: anomalias cromossómicas em diagnóstico pré-natal (2001-2012)
Brito, Filomena; Simão, Laurentino; Alves, Ana; Silva, Marisa; Furtado, José; Ventura, Catarina; Ambrósio, Paula; Geraldes, Céu; Melo, AntonietaIntrodução: As gestações gemelares (GG) têm aumentado significativamente nos últimos anos, sendo este aumento atribuído a um efeito combinado de tratamentos de fertilidade e aumento da idade materna. As grávidas com GG têm um risco acrescido de anomalias cromossómicas fetais, comparativamente às de gestações simples. Objetivo: Avaliação dos resultados obtidos em estudos de Diagnóstico Pré-Natal (DPN) de Anomal...
Prenatal Investigation of a Familial Partial Monosomy 10q
Silva, Marisa; Marques, Bárbara; Brito, Filomena; Ferreira, Cristina; Furtado, José; Ventura, Catarina; Nunes, Luis; Kay, Teresa; Caetano, PaulaObjective: To present the clinical, cytogenetic and molecular findings of a prenatal study of a familial partial monosomy 10q. Distal 10q deletions are rare and the majority are terminal deletions involving bands 10q25 and 10q26. Patients typically present with facial dysmorphism, postnatal growth retardation, developmental and mental retardation, genitourinary anomalies and digital anomalies. Methods: Conventi...
A retrospective study of Down syndrome in prenatal diagnosis. Did chorionic vil...
Simão, Laurentino; Silva, Marisa; Brito, Filomena; Alves, Cristina; Marques, Bárbara; Ferreira, Cristina; Ambrósio, Paula; Silva, Maria do CéuIntroduction Down syndrome (DS) is the most common single genetic cause of human moderate mental retardation, with an estimated prevalence of 9.2 cases per 10,000 live births. We aimed at analyzing changes in prenatal diagnosis (PND) over time, namely the referral reasons for chromosome analyses and the introduction of chorionic villus sampling (CVS), and its influence on the results obtained in DS cases. Meth...
Prenatal diagnosis of terminal 11q deletion
Simão, Laurentino; Brito, Filomena; Silva, Marisa; Marques, Bárbara; Furtado, José; Ventura, Catarina; Caetano, Paula; Dias, Ivone; Correia, HildebertoThe majority of 11q deletion cases described may be included in the “distal 11q deletion syndrome”, or Jacobsen syndrome. This is a rare but clinically recognizable condition with an incidence of 1/ 100,000 births. The most common clinical features are psychomotor delay, characteristic facial dysmorphism and malformations of the heart, kidney, genitalia, central nervous system and skeleton. Patients usually hav...
Biodiesel production from leather industry wastes
Luís Ramos; Rui Fernandes; A.A.; Elisa Ramalho; Nídia Caetano; Paula SilvaAnimal fat was extracted from fleshings, a residue from the leather industry, by a two step procedure. First the fleshings are mixed with water (60 ºC) and then the fat rich phase obtained is treated with n-hexane to extract the fat and leave the proteic residue. This fat presents a high acid value and therefore the direct transesterification to biodiesel with an alkaline catalyst was not possible. A pre-treatm...
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