Genetic and metabolic urgencies in the neonatal intensive care unit: maple syrup urine disease

La enfermedad de la orina con olor a jarabe de arce (EOJA) es un trastorno hereditario del metabolismo de aminoácidos ramificados causada por mutaciones en el complejo mitocondrial Deshidrogenasa de Cetoácidos de Cadena Ramificada (BCKDH). La disfunción de este complejo genera la acumulación tóxica de aminoácidos de cadena ramificada (BCAA), lo que conlleva un especial impacto en el sistema nervioso central. La acumulación de sustratos provoca encefalopatía aguda neonatal severa, rápidamente progresiva y catastrófica si no se instaura a tiempo el tratamiento. Esta entidad tiene un manejo médico específico en fase aguda y un tratamiento a largo plazo para evitar secuelas y mortalidad. De ahí la importancia de tenerla en cuenta como diagnóstico diferencial. Se presenta a continuación un caso colombiano de un paciente con EOJA de presentación clásica neonatal con desenlace fatal, como ejemplo de urgencia metabólica y diagnóstico diferencial en un neonato encefalopático.Maple syrup urine disease (MSUD) is a hereditary disorder of branched chain amino/keto acid metabolism, caused by a decreased activity of the branched-chain alpha- ketoacid dehydrogenase complex (BCKAD), which leads to abnormal elevated plasma concentrations of branched-chain amino acids (BCAAs) clinically manifested as a heavy burden for Central Nervous system. The toxic accumulation of substrates promotes the development of a severe and rapidly progressive neonatal encephalopathy if treatment is not immediately given. This disorder has a specific medical management in acute phase in order to minimize mortality and morbidity. For all those reasons, it is important to include the MSUD as a possible diagnosis in a encephalopathic newborn. We present a colombian newborn with classical MSUD with fatal outcome as an example of metabolic emergency and a differential diagnosis in the encephalopathic newborn

Testes Genéticos em Cardiologia: guia de recomendações

O Grupo de Estudo de Biologia Celular e Genética Cardiovascular da Sociedade Portuguesa de Cardiologia decidiu reunir na atual publicação algumas das principais indicações para estudos genéticos em cardiologia. A necessidade de divulgação deriva do conhecimento científico exponencial na área da genética cardiovascular e da disponibilidade, também crescente, de laboratórios onde podem ser efetuados testes genéticos. Esperamos que o atual Guia de Recomendações seja útil a cardiologistas e outros profissionais que lidam com doenças genéticas/hereditárias

Proposta de seminários para formação de teleconsultores sobre a Política Nacional de Atenção Integral às Pessoas com Doenças Raras no SUS

Ementa do curso online sobre a Política Nacional de Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde (SUS). Iniciativa do Programa Nacional de Telessaúde Brasil Redes, através da Secretaria de Gestão do Trabalho e Educação na Saúde (SGTES) do Ministério da Saúde, o curso envolveu parceria com as seguintes instituições: Sociedade Brasileira de Genética Médica, Serviço de Genética Médica do Hospital das Clínicas de Porto Alegre (HCPA), Departamento de Genética da Universidade Federal do Rio Grande do Sul, Núcleo de Telessaúde Técnico-Científico do Rio Grande do Sul (TelessaúdeRS/ UFRGS) e Rede Nacional de Ensino e Pesquisa (RNP). Desenvolvido no segundo semestre de 2014 e composto por seis módulos, o curso teve como objetivo principal qualificar teleconsultores atuantes em núcleos de telessaúde do Programa Nacional de Telessaúde Brasil Redes no tema doenças raras e, em especial, nas questões relacionadas aos procedimentos de encaminhamento de pacientes com doenças raras aos serviços especializados do SUS

Highly Sensitive Detection and Genotyping of HPV by PCR Multiplex and Luminex Technology in a Cohort of Colombian Women with Abnormal Cytology

Cancer of the uterine cervix (CC) is the second most common cancer in women worldwide. In Colombia, CC is the second most frequent cancer among the entire women population and the first among women aged between 15 and 44 years, with an estimated incidence of 24.9 cases/100,000 inhabitants. The main risk factor is infection with one or more high-risk human papillomavirus (HPV) types. The aim of this study was to estimate the genotype-specific prevalence of human papillomavirus (HPV) DNA in patients with cervical pathology using the multiplex PCR and Luminex xMAP technology. In addition, we compared genotyping with Luminex xMAP and with Reverse Line Blot (RLB). A cohort of 160 patients participated in the study, of which 25.6% had no cervical lesions, 35% presented cervical intraepithelial neoplasia of grade I (CIN I), 10% CIN II, 20.6% CIN III and 8.8% CC. The most frequent viral types in all lesion grades were HPV16 and HPV18. Infections by a unique virus were less frequent (19.4%) than multiple infections (80.6%). Single infections were found in 22% of women with no cervical lesions, and in 14.3% of CIN I, 18.7% CIN II, 21.2% CIN III and 28.6% of CC. Multiple infections were observed in 78.0% of cervical samples with negative histopathologic diagnosis, and in 85.7% of CIN I, 81.2% CIN II, 78.8% CIN III and 71.4% CC. All samples analyzed with Luminex xMAP were HPV-positive, while we could detect HPV in only 48.8% of cases with RLB. Of the samples positive by both methods, there was a 67.2% correlation in the viral type(s) detected. In conclusion, Luminex suspension array showed a remarkably higher sensitivity compared with RLB. Multiple infections were unexpectedly common, being HPV types 16 and 18 the most prevalent in all histopathologic grades

Caracterizaçăo cromossômica de espécies da família Ariidae (Teleostei, Siluriformes) pertencentes ao litoral paranaense /

Orientadora : Marta Margarete CestariCo-orientador : Roberto Ferreira ArtoniDissertaçăo (mestrado) - Universidade Federal do Paraná, Setor de Cięncias Biológicas, Programa de Pós-Graduaçăo em Genética. Defesa: Curitiba, 2008Inclui bibliografi

O polimorfismo dos genes MICA e MICB e o abortamento recorrente /

Orientadora : Maria da Graça BicalhoDissertaçăo (mestrado) - Universidade Federal do Paraná, Setor de Cięncias Biológicas, Programa de Pós-Graduaçăo em Genética. Defesa: Curitiba, 2008Inclui bibliografia e anexo

Oxygen mass transfer in fermentation of bacillus thuringiensis

RESUMEN: Este trabajo se realizó con el propósito de implementar un modelo teórico a partir de la relación entre la velocidad de transferencia de oxígeno (OTR) y la demanda bioquímica de oxígeno (OUR), para hallar diferentes condiciones de velocidad de agitación y aireación, que determinan los coeficientes de transferencia de oxígeno, bajo las cuales el crecimiento microbiano no se vea afectado por deficiencias en el suministro de oxígeno. Tal correlación se adaptó al cultivo con Bacillus thuringiensis de manera que permita estimar para una concentración de biomasa máxima deseada, cual es la velocidad de suministro de oxígeno requerida para que no se presenten limitaciones de oxígeno en el cultivo.ABSTRACT: The purpose of this work was to obtain a correlation based on literature, depicting the relationships betwen the physical oxygen transfer rate (OTR) and microbial oxygen uptake rate (OUR) in order to determine the conditions (mass transfer coefficient, resulting on diferents combinations of aereations and agitations rates), under which growth will not be limited by oxygen. This correlation was adapted to culture with B. thuringiensis in order to estimate what biomass concentration are feasible for the physical limits set by operations conditions before microbial activity becomes limited by oxygen

Estudo de associaçăo de variaçőes dos genes BCHE (Butirilcolinesterase) e GHRL (Grelina) com obesidade /

Orientadora : Eleidi A. Chautard Freire MaiaCo-orientador : Ricardo L. R. de SouzaDissertaçăo (mestrado) - Universidade Federal do Paraná, Setor de Cięncias Biológicas, Programa de Pós-Graduaçăo em Genética. Defesa: Curitiba, 2008Inclui bibliografi

Gene dosage of DAX-1, determining in sexual differentiation : duplication of DAX-1 in two sisters with gonadal dysgenesis

Q3Q2Artículo original2971-2978Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. The excess of DAX-1 gene disturbs testicular development by down regulation of SF-1, WT1, and SOX9. This is the first report of 46,XY sex reversal in two siblings who have a maternally inherited duplication of DAX-1 associated with reduced levels of expression of downstream genes as SOX9-SF1