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- Prenatal diagnosis of idic(9)Publication . Simão, L.; Marques, B.; Cravo, J.; Ventura, C.; Correia, H.; Silva, M.; Mourinha, V.; Furtado, J.; Páramos, A.I.Tetrasomy of the short arm of chromosome 9 is a rare chromosome imbalance that may result from a supernumerary isochromosome 9 with the most recurrent breakpoints being 9p10, 9q12 and 9q13. On ultrasound, it usually presents with intrauterine growth restriction (IUGR), abnormal facial profile and ventriculomegaly. However, few reports establish a correlation between fetal features and the size of isochromosome or the presence of isodicentric 9. We report the clinical case of a 32-year-old pregnant woman, G2P1, underwent amniocentesis at 13 weeks of gestation with fetal increased nuchal translucency (7mm). The fetus also presented IUGR, cystic higroma, generalized subcutaneous edema, cardiac malformations, facial anomalies and fetal death. The karyotype was performed by standard in situ methods. Fluorescence in situ hybridization (FISH) was performed using centromeric probe CEP9. Conventional cytogenetic and FISH analyses revealed a supernumerary chromosome idic(9)(q12) in all cells examined. After counseling the couple opted for termination of pregnancy. The post-mortem analysis revealed a single umbilical arteria, IUGR, cystic higroma, facial dysmorphism with cleft lip and palate, hypertelorism and low set ears. These findings are in accordance with other reports. Nevertheless, the hypertelorism is not commonly described and such an early detection of a cardiac anomaly is uncommon. Additionaly the fetal death occurred early than in the most cases described in literature. Although breakpoint position effect on the severity on the phenotype is not consensual it has proposed that cases presenting with breakpoints on p10, on q12 or on q13 show a similar phenotype. However, cardiac defects seem more frequent on cases in which the abnormality includes 9q material. This work aims to contribute to a better karyotype-phenotype correlation in cases with tetrasomy 9p and isodicentric chromosomes idic(9).
- Cooperação em Saúde no âmbito da CPLP - Dia do INSA 2015 [editorial]Publication . Almeida, Fernando deEditorial a propósito da comemoração do Dia do Instituto Nacional de Saúde Doutor Ricardo Jorge 2015, no dia 6 de novembro, este ano dedicado à cooperação científica e técnica com os países de Comunidade de Países de Língua Oficial Portuguesa (CPLP).
- Stroke in children with sickle cell disease: advances in understanding its molecular pathogenesisPublication . Vargas, Sofia; Coelho, Andreia; Maia, Raquel; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Mota-Soares, Isabel; Lavinha, João; Kjollerstrom, Paula; Faustino, PaulaSickle Cell Disease (SCD) is a clinically heterogeneous monogenic chronic anaemia characterized by severe recurrent episodes of vaso-occlusion, infection, and chronic haemolysis. Cerebral vasculopathy (overt stroke and silent infarcts) is one of the most devastating complications affecting these children. However, its pathophysiology is complex and the underlying mechanisms remain largely unknown. The main objective of this study was to search for associations between putative genetic modifiers of vascular tonus, vascular cell adhesion and inflammation, and the risk for cerebral infarcts, particularly overt stroke, in the context of SCD in paediatric patients. Sixty six children with SCD were enrolled in this work. They were divided into three groups, according to different inclusion criteria: Stroke group (n=13), included children with at least one episode of stroke between ages 5 and 13; Risk group (n=29) included children with high transcranial Doppler (TCD) velocities and children with silent infarcts on magnetic resonance imaging (MRI); and Control group (n= 24) included children without previous history of stroke, normal TCD velocities and no abnormalities on MRI. Clinical, biochemical, haematological and imaging data were retrospectively obtained from patients’ medical records. Several molecular biology methodologies (such as, PCR-RFLP, Gap-PCR, Sequencing, and Gene Scan) were used to characterize 23 genetic variants of 12 candidate genes. Statistical analysis was performed using R software. Six SNPs in genes (VCAM-1, THBS-1, HMOX, and NOS3), and four haplotypes (in the promoters of VCAM-1 and NOS3) were found to be associated with some of the studied phenotypes. However, only two SNPs and one haplotype maintained significance after FDR correction of p-values, with 90% confidence. The (-2021)T variant in the promoter of VCAM-1 (rs1409419) and the (-786)C variant in NOS3 (rs2070744) were positively associated with Stroke, whereas Haplotype 5 in NOS3 was positively associated with Control group, all for allele count and dominant mode of transmission. These gene variants seem to modulate the cerebral vasculopathy due to their capacity to quantitatively modify gene expression and, consequently, their corresponding protein products biological activities. Additionally, it was observed that patients who presented high HbF levels (>10%) were less prone to stroke ischemic events. Moreover, Risk group showed a positive association with higher LDH levels when compared to the other groups, suggesting that higher degree of haemolysis is a risk factor for stroke.
- Microbiologia do ar, 2010-2014: dados do Programa Nacional de Avaliação Externa da QualidadePublication . Cano, Manuela; Rosa, Nuno; Correia, Helena; Faria, Ana PaulaObjetivo: O presente trabalho pretende fazer uma avaliação crítica dos resultados obtidos ao longo de 5 anos de atividade do Programa de Avaliação Externa da Qualidade – Microbiologia do Ar (2010-2014).
- Cuidados a ter nas compras e na conservação dos alimentosPublication . Viegas, SilviaConjunto de conselhos para preservar a qualidade dos alimentos e evitar doenças de origem alimentar.
- Stroke risk in children with sickle cell anemia – the importance of genetic modulators of hemolysisPublication . Vargas, Sofia; Coelho, Andreia; Maia, Raquel; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Mota-Soares, Isabel; Lavinha, João; Kjollerstrom, Paula; Faustino, PaulaSickle cell anemia (SCA) is an autosomal recessive disease, caused by the mutation HBB:c.20A>T, originating hemoglobin (Hb) S that, upon deoxygenation, polymerises inside the erythrocyte, deforming it and leading to premature hemolysis. The disease presents high clinical heterogeneity, stroke being the most devastating manifestation. It occurs in 11% of patients by 20 years of age. In this study we aimed to identify genetic modulators of stroke risk in SCA. Sixty six children with SCA were categorised according to their degree of cerebral vasculopathy: Stroke (n=13), Risk (n=29) and Control (n= 24). Relevant data were collected from patients’ medical records. We characterized 23 polymorphic regions in genes related to vascular cell adhesion (VCAM-1, THBS-1, CD36), vascular tonus (NOS3, ET-1), and inflammation (TNF-α, HMOX-1) as well as in known globin expression modulators (HBB cluster haplotype; HBA and BCL11A genotypes). Data analyses were performed using R software. VCAM-1 rs1409419 allele C and NOS3 rs207044 allele C were associated to stroke events, while VCAM-1 rs1409419 allele T was found to be protective. Allele 4a of NOS3 27 bp VNTR appeared to be associated to stroke risk and the 4b allele to protection. HMOX-1 longer STRs seemed to predispose to stroke. Higher HbF levels (associated to Senegal haplotype or BCL11A rs11886868 allele T) were found in Control group, and higher lactate dehydrogenase levels were found in Risk group. The genetic variants above modulate cerebral vasculopathy development due to their quantitative effect on gene expression, their corresponding protein products and biological activities. Our findings reinforce the relevance of vascular tonus, vascular cell adhesion, and ultimately NO bioavailability and hemolysis rate in modulating SCA stroke development and provide the first evidence of a protective role of HbF against stroke occurrence.
- High frequency of subclonal ALK mutations in high risk neuroblastoma patients. A SIOPEN studyPublication . Bellini, Angela; Bernard, Virginie; Lapouble, Eve; Clement, Nathalie; Pierron, Gaelle; Ambros, Inge M.; Preter, Katleen de; Van Roy, Nadine; Vicha, Ales; Combaret, Valérie; Betts, David; Jeison, Marta; Avigad, Smadar; Morini, Martina; Varesio, Luigi; Marques9, Barbara; Muhlethaler, Annick; Noguera, Rosa; Berbegall, Ana; Mora, Jaime Font de; Ambros, Peter F.; Ladenstein, Ruth; Valteau-Couanet, Dominique; Michon, Jean; Delattre, Olivier; Bown, Nick; Tweddle, Deborah; Schleiermache, GudrunIntroduction: In neuroblastoma (NB), activating ALK receptor tyrosine kinase point mutations are detected in 8–10% at diagnosis using conventional sequencing. To determine the potential occurrence and the prognostic impact of ALK mutations in a series of high risk NB patients we studied ALK variation frequencies using targeted deep sequencing in samples of patients enrolled in the SIOPEN HR-NBL01 study
- Fatores de risco cardiovascular na população portuguesa - Região do AlentejoPublication . Bourbon, Mafalda; Alves, CatarinaO estudo e_Cor é um estudo epidemiológico transversal, no âmbito da prevenção cardiovascular. O principal objetivo é a determinação da prevalência dos fatores de risco cardiovascular major na população portuguesa: fatores sociais ou comportamentais (ex. dieta inadequada, sedentarismo, tabagismo), biológicos (ex. hipertensão, obesidade, dislipidémia, hiperglicemia/diabetes) e genéticos (ex. eventos cardiovasculares prematuros). Os dados obtidos irão também permitir a determinação de valores de referência para os principais fatores de risco bioquímicos, ainda inexistentes para a nossa população mas de grande interesse para a definição de critérios de doença e saúde.
- Programa Nacional de Diagnóstico Precoce: 35 anos de atividade (1979-2014)Publication . Vilarinho, Laura; Rocha, Hugo; Sousa, Carmen; Fonseca, Helena; Lopes, Lurdes; Carvalho, Ivone; Marcão, Ana; Pinho e Costa, PauloArtigo sobre os 35 anos de atividade do Programa Nacional de Diagnóstico Precoce (1979-2014), também conhecido por "Teste do Pezinho".
- Controlo de qualidade em laboratório clínico: hemoglobinopatiasPublication . Vilhena, Filipa; Caniça, Manuela; Faria, Ana Paula; Miranda, Armandina[PT] O laboratório clínico deve utilizar metodologias de controlo de qualidade que permitam identificar, prevenir e corrigir possíveis falhas e assim garantir a exatidão dos seus resultados. O Controlo de Qualidade laboratorial é de elevada importância quer através da aplicação de metodologias de Controlo de Qualidade Interno (CQI) para avaliação da precisão analítica, quer através da participação em programas de Avaliação Externa da Qualidade (AEQ) para avaliação da exatidão analítica. As hemoglobinopatias são doenças monogénicas com transmissão de forma autossómica recessiva, causadas por mutações ao nível dos genes das globinas humanas, que conduzem à síntese reduzida da hemoglobina (talassémias) ou à formação de hemoglobinas estruturalmente anómalas (variantes). O estudo apresentado incidiu sobre os resultados do CQI e da participação em programas de AEQ da Unidade de Diagnóstico Laboratorial de Referência (UDR) do Instituto Nacional de Saúde Doutor Ricardo Jorge, bem como dos ensaios de AEQ organizados pelo Programa Nacional de Avaliação Externa da Qualidade (PNAEQ) ao nível do doseamento de Hb A2, Hb F e Hb S realizados entre 2011 e 2014. Ao nível do CQI, verificou-se uma melhoria da precisão analítica no doseamento de amostras controlo de nível de concentração normal para a Hb A2, normal e elevado para a Hb F. O erro total associado ao doseamento da Hb A2 e da Hb F apresenta, de um modo geral, uma tendência decrescente. Relativamente ao doseamento da Hb S o mesmo só se verifica para as amostras analisadas no equipamento HA 8160. Entre 2011 e 2014 foram organizados pelo PNAEQ oito ensaios no âmbito das hemoglobinopatias. Os resultados obtidos indicam que, para as diferentes hemoglobinas estudadas, existe uma grande variabilidade nos resultados entre os laboratórios participantes.