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Browsing by Author "Silva, M."

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  • A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis
    Publication . Jorge, P.; Mota-Freitas, M.; Santos, R.; Silva, M.; Soares, G.; Fortuna, A.
    Abstract: This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies.
    2014Journal article Open access Show more
  • Are Stroke Occurrence and Outcome Related to Weather Parameters? Results from a Population-Based Study in Northern Portugal
    Publication . Magalhães, R.; Silva, M.; Correia, M.; Bailey, T.
    Background: Changes in meteorological parameters have been associated with cardiovascular mortality and stroke. The high incidence of stroke in Portugal may be modelled by short- or long-term weather changes whose effect may be different across stroke types and severity. Methods: Data include all patients with a first-ever-in-a-lifetime stroke registered in a population of 86,023 residents in the city of Porto from October 1998 to September 2000. Specific stroke types were considered and ischaemic stroke (IS) subtype was defined according to the Oxfordshire Community Stroke Projet classification and the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria. Information on daily temperature, humidity and air pressure was obtained from the National Meteorological Office. The Poisson distribution was used to model the daily number of events as a function of each weather parameter measured over different hazard periods, and the binomial model to contrast effects across subgroups. Differential effects of meteorological parameters and hazard periods upon stroke occurrence and outcome were analysed in a stepwise model. Results: Among the 462 patients registered, 19.6% had a primary intracerebral haemorrhage (PICH) and 75.3% an IS. Among patients with IS, 21.6% were total anterior circulation infarcts (TACIs), 19.8% partial anterior circulation infarcts (PACIs), 19.5% posterior circulation infarcts (POCIs) and 39.1% were lacunar infarcts (LACIs). The aetiology of IS was large artery atherosclerosis in 6.9%, cardioembolism in 23.3% and small artery occlusion in 35.6%. The incidence of PICH increased by 11.8% (95% CI: 3.8–20.4%) for each degree drop in the diurnal temperature range in the preceding day. The incidence of IS increased by 3.9% (95% CI: 1.6–6.3%) and cardioembolic IS by 5.0% (95% CI: 0.2–10.1%) for a 1 ° C drop in minimum temperature in the same hazard period. The incidence of TACIs followed the IS pattern while for PACIs and POCIs there were stronger effects of longer hazard periods and no association was found for LACIs. The relative risk of a fatal versus a non-fatal stroke increased by 15.5% (95% CI: 6.1–25.4%) for a 1 ° C drop in maximum temperature over the previous day. Conclusions: Outdoor temperature and related meteorological parameters are associated with stroke occurrence and severity. The different hazard periods for temperature effects and the absence of association with LACIs may explain the heterogeneous effects of weather on stroke occurrence found in community- based and hospital admission studies. Emergency services should be aware that specific weather conditions are more likely to prompt calls for more severe strokes.
    2011Journal article Open access Show more
  • Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease
    Publication . Costa-Pereira, C.; Durães, C.; Coelho, R.; Grácio, D.; Silva, M.; Peixoto, A.; Lago, P.; Pereira, M.; Catarino, T.; Pinho, S.; Teixeira, J.; Macedo, G.; Annese, V.; Magro, F.
    Inflammation is the driving force in inflammatory bowel disease (IBD) and its link to oxidative stress and carcinogenesis has long been accepted. The antioxidant system of the intestinal mucosa in IBD is compromised resulting in increased oxidative injury. This defective antioxidant system may be the result of genetic variants in antioxidant genes, which can represent susceptibility factors for IBD, namely Crohn's disease (CD) and ulcerative colitis (UC). Single nucleotide polymorphisms (SNPs) in the antioxidant genes SOD2 (rs4880) and GPX1 (rs1050450) were genotyped in a Portuguese population comprising 436 Crohn's disease and 367 ulcerative colitis patients, and 434 healthy controls. We found that the AA genotype in GPX1 is associated with ulcerative colitis (OR = 1.93, adjusted P-value = 0.037). Moreover, we found nominal significant associations between SOD2 and Crohn's disease susceptibility and disease subphenotypes but these did not withstand the correction for multiple testing. These findings indicate a possible link between disease phenotypes and antioxidant genes. These results suggest a potential role for antioxidant genes in IBD pathogenesis and should be considered in future association studies.
    2017Journal article Open access Show more
  • CARACTERIZAÇÃO E PROGNÓSTICO A CURTO PRAZO DOS UTILIZADORES DA VIA VERDE DO AVC NO NORTE DE PORTUGAL
    Publication . Moutinho, M.; Magalhães, R.; Silva, M.; Correia, M.
    CARACTERIZAÇÃO E PROGNÓSTICO A CURTO PRAZO DOS UTILIZADORES DA VIA VERDE DO AVC NO NORTE DE PORTUGAL Mariana Moutinho1, Rui Magalhães2, Maria Carolina Silva2, Manuel Correia3 1Curso de Mestrado Integrado em Medicina, ICBAS/UP. 2Departamento de Estudo de Populações, ICBAS/UP. 3Serviço de Neurologia, HSA/CHP e ICBAS/UP. Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto (ICBAS/UP), Porto. Hospital de Santo António, Centro Hospitalar do Porto (HSA/CHP), Porto. Introdução Em 2002 Portugal detinha ainda uma das mais altas taxas de mortalidade por doenças cerebrovasculares de entre os países europeus. Várias estratégias foram adoptadas para melhorar quer a prevenção da doença quer o seu tratamento, e de entre estas últimas pode salientar-se a criação da Via Verde do AVC. O objectivo deste trabalho é descrever a utilização e resultados desta estratégia no contexto de um registo prospectivo comunitário de acidentes neurológicos. Metodologia Foram registados todos os AVCs ocorridos entre 1 de Outubro de 2009 e 30 de Setembro de 2010 nos utentes inscritos no agrupamento de centros de saúde do Porto Ocidental e nos centros de saúde de Mirandela e Vila Pouca de Aguiar. Para a detecção de casos utilizaram-se múltiplas fontes de informação: notificação via plataforma WEB, e-mail e Alerta P1 e pesquisas sistemáticas em registos disponibilizados pelas entidades envolvidas no estudo - urgências hospitalares, listas de altas, procedimentos de diagnóstico, óbitos, Via Verde do AVC e serviço de atendimento em situações de urgência (SASU). Resultados Ocorreram 600 AVCs em 241.000 habitantes (taxa de ataque de 2,5/1.000) e 434 primeiros na vida (taxa de incidência de 1,8/1.000). Foram registados 72 acessos à VV nesta população, dos quais 48 (66,7%) foram diagnosticados como AVC. Considerando os quatro critérios de activação da VV (idade≤80 anos, independência funcional, um de três sinais e tempo após episódio≤3 horas), só 95 (15,9%) doentes a poderiam utilizar, e dos actuais utilizadores, apenas 56,3% satisfaziam esses critérios. A janela terapêutica (19,5%) ou a idade> 80 anos (7,3%) só por si impediriam 154 (26,8%) doentes de accionar a VV. Nos doentes com critérios de activação (n=95), foram internados 96,3% pela VV externa, 83,3% pela VV intra-hospitalar e 64,0% dos restantes; a fibrinólise foi realizada em 77,3%, 36,4% e 17,4% dos doentes com enfarte cerebral, respectivamente. O Rankin pós-AVC é mais grave (4/5) nos utilizadores da VV externa (70,3% vs. 35,3%), mas estes apresentam mais assiduamente os três sinais de AVC (44,4% vs. 16,2%). Ajustando para a idade, sexo e número de sinais, o risco de incapacidade grave pós-AVC não é significativamente diferente no acesso pela VV externa (RP=2,9; IC 95%: 0,8-10,2), bem como a taxa de letalidade. Conclusões Os critérios de activação da VV do AVC são muito restritivos. Embora seja accionada mais frequentemente nas situações clínicas mais graves, impedindo a eventual realização de fibrinólise, a proporção de doentes que a realizou é relativamente alta em comparação com outros estudos. Apresentador: Mariana Moutinho, Aluna do Curso de Mestrado Integrado em Medicina, ICBAS/UP.
    2011-07-01Lecture Open access Show more
  • Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of 106 Patients in 46 Families
    Publication . Coutinho, P.; Barros, J.; Zemmouri, R.; Guimarães, J.; Alves, C.; Chorão, R.; Lourenço, E.; Ribeiro, P.; Loureiro, J.; Santos, J.; Hamri, A.; Paternotte, C.; Hazan, J.; Silva, M.; Prud'homme, F.; Grid, D.
    Background Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. Objective To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies. Results Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families. Five phenotypes are defined: (1) pure early-onset families, (2) pure late-onset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia. Six additional families have specific complex presentations, each of which is unique in the present series. Pyramidal signs in the upper limbs and pes cavus are frequent findings, while pseudobulbar signs, including dysarthria, dysphagia, and brisk jaw jerks, are more frequent in the complex forms. The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families. Two of the Portuguese kindreds with complex forms (one with mental retardation and the other associated with hypoplasia of the corpus callosum) showed linkage to the locus recently identified on chromosome 16. Conclusions Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
    1999Journal article Open access Show more
  • Cooling therapy for acute stroke
    Publication . Correia, M.; Silva, M.; Veloso, M.
    Abstract BACKGROUND: Recent studies in acute stroke patients have shown an association between body temperature and prognosis. OBJECTIVES: Our objective was to assess the effects of cooling when applied to patients with acute ischaemic stroke or primary intracerebral haemorrhage. SEARCH STRATEGY: We searched the Cochrane Stroke Group's trial register (last searched in March 1999), plus MEDLINE searched up to November 1998 and EMBASE searched from January 1980 to November 1998. We contacted investigators, pharmaceutical companies and manufacturers of cooling equipment in this field. SELECTION CRITERIA: All completed randomised controlled trials or controlled clinical trials, published or unpublished, where cooling therapy (therapy given by physical devices or antipyretic drugs primarily to lower body temperature independently of basal temperature at the beginning of treatment) was applied up to two weeks of an acute ischaemic stroke or primary intracerebral haemorrhage. DATA COLLECTION AND ANALYSIS: Two reviewers independently searched for relevant trials. MAIN RESULTS: No randomised trials or controlled trials were identified; one placebo-controlled trial of metamizol is currently underway. REVIEWER'S CONCLUSIONS: There is currently no evidence from randomised trials to support the routine use of physical or chemical cooling therapy in acute stroke. Since experimental studies showed a neuroprotective effect of hypothermia in cerebral ischaemia, and hypothermia appears to improve the outcome in patients with severe closed head injury, trials with cooling therapy in acute stroke are warranted.
    1999-10-25Journal article Open access Show more
  • Diagnóstico e benefícios para a comunidade na doença genética: contributo da citogenética
    Publication . Oliva-Teles, N.; Freitas, M.; Lopes, E.; Aguiar, J.; Marques, B.; Fortuna, A.; Silva, M.
    2013-06-28Conference object Open access Show more
  • Epidemiologia das infeções fúngicas superficiais em Portugal - revisão de 3 anos (2014-2016)
    Publication . Rato, M.; Costin, A.; Furtado, C.; Sousa, C.; Toscano, C.; Veríssimo, C.; Trindade, F.; Almeida, F.; Velho, G.; Catorze, G.; Raposo, I.; Selada, J.; Ferreira, J.; Batista, J.; Santos, L.; Sereijo, M.; Silva, M.; Apetato, M.; Sanches, M.; Costa-Silva, M.; Filipe, P.; Santos, P.; Fonseca, P.; Mascarenhas, R.; Bajanca, R.; Lopes, V.; Lewis, V.; Duarte, M.; Galhardas, C.; Anes, M.
    Introdução: As infeções fúngicas superficiais são as dermatoses infeciosas mais frequentes e a sua incidência continua a aumentar. Os dermatófitos são os principais agentes causais apresentando, contudo, uma distribuição geográfica variável. Material e Métodos: O presente estudo teve como objetivo a caracterização epidemiológica das infeções fúngicas superficiais diagnosticadas nos Serviços/Unidades de Dermatologia pertencentes ao Serviço Nacional de Saúde Português entre janeiro de 2014 e dezembro 2016 através da análise retrospetiva dos resultados das culturas realizadas durante esse período. Resultados: Foram estudados 2375 isolamentos, pertencentes a 2319 doentes. O dermatófito mais frequentemente isolado foi o Trichophyton rubrum (53,6%), tendo sido o principal agente causal da tinha da pele glabra (52,4%) e das onicomicoses (51,1%). Relativamente às tinhas do couro cabeludo, globalmente o Microsporum audouinii foi o agente mais prevalente (42,6%), seguido do Trichophyton soudanense (22,1%). Enquanto na área metropolitana de Lisboa estes dermatófitos foram os principais agentes de tinha do couro cabeludo, nas regiões Norte e Centro o agente mais frequente foi o Microsporum canis (58,5%). Os fungos leveduriformes foram os principais responsáveis pelas onicomicoses das mãos (76,7%). Conclusão: Os resultados deste estudo estão globalmente concordantes com a literatura científica. O Trichophyton rubrum apresenta-se como o dermatófito mais frequentemente isolado em cultura. Na tinha do couro cabeludo, na área metropolitana de Lisboa, as espécies antropofílicas de importação assumem particular destaque.
    2018Journal article Open access Show more
  • O estado de saúde oral de crianças em idade pré-escolar e escolar de uma área urbana
    Publication . Silva, M.; Ferreira, A.; Silva, C.; Teixeira, M.; Valente, C.
    Introdução: A cárie dentária e a má oclusão são importantes problemas odontológicos da infância e têm etiologia multifactorial. Objectivos: Determinar a prevalência de cárie dentária e de má oclusão em crianças com idade escolar e pré-escolar e identificar os hábitos de saúde oral de risco. Métodos: Foi avaliado o estado de saúde das peças dentárias e aplicado o índice de estética dentária em crianças da pré-escola e do segundo ano do ensino básico inscritas em escolas públicas de uma área urbana, efectuado inquérito às crianças e seus encarregados de educação acerca dos hábitos de saúde oral e calculado o índice socioeconómico. Resultados: Foram elegíveis 224 das 277 crianças inscritas. A idade média foi de seis anos (variou entre os três e os dez anos) com duas modas, nos cinco e nos sete anos. Foi registada cárie num total de 127 crianças (56,7%), em 52,8% das crianças com idade igual ou inferior a seis anos e em 61,4% das com idade superior a seis anos. Na dentição temporária o índice de cpod foi 1,84 no total das crianças (1,5 cariados, 0,067 perdidos devido a cárie e 0,27 obturados), 1,72 (1,45 cariados, 0,033 perdidos devido a cárie, 0,24 obturados) nas crianças com idade igual ou inferior a seis anos e 1,99 (1,58 cariados, 0,11 perdidos devido a cárie, 0,30 obturados) nas crianças com idade superior a seis anos. Na dentição permanente o índice de CPOd total foi de 0,17 (0,17 dentes cariados), 0,008 (0,008 cariados) nas crianças com idade inferior ou igual a seis anos e 0,38 (0,38 cariados) nas crianças com idade superior a seis anos. A presença de cárie dentária foi mais frequente nas crianças que não escovavam os dentes com ritmo diário (68,9% vs 52%, p < 0,05), nas que consumiam açucares pelo menos uma vez por dia (67% vs 48%, p< 0,05) e nas que pertenciam a classes sociais mais baixas. Má oclusão dentária foi encontrada em 50 crianças (21,1% das crianças com idade inferior ou igual a seis anos e em 23,8% das crianças com idade superior a seis anos) tendo sido mais frequente nas que usavam chupeta (55% vs 19,1%, p< 0,05) ou nas que a usaram para além dos três anos de idade (31,1% vs 10,7%, p<0,05), nas que tinham o hábito de sucção digital (63,6% vs 20,2%, p< 0,05), nas que ingeriam diariamente doces de longa duração (33,3% vs 19,3%, p <0,05) e nas que usavam biberão (34,3% vs 20,1%, p < 0,05). O uso de biberão associou-se ao hábito de sucção na chupeta (25,7% vs 5,8%, p< 0,05) assim como ao hábito de sucção digital (27,3% vs 8,0%, p <0,05). Discussão: Quando comparados os resultados obtidos com os de estudos epidemiológicos nacionais anteriores, verifica-se um aumento da proporção de crianças livres de cárie. Um baixo nível socioeconómico, a ingestão diária de doces e a não escovagem diária dos dentes, são factores que se associam à presença de cárie. A presença de má oclusão relacionou-se com os hábitos de sucção não alimentar (digital e na chupeta), principalmente se mantidos após os três anos de idade. Conclusões: A prevalência de cárie e má oclusão dentárias são elevadas, tendem a aumentar com a idade e associam-se a vários factores que podem ser prevenidos. ABSTRACT Introduction: Dental caries and malocclusion are important odontologic problems in childhood and have multifactorial etiology. Objectives: To assess the prevalence of dental caries, malocclusion and oral heatlh habits in preschool and school age children. Methods: Dentition status and dental aesthetic index of preschool and second degree children from public schools in an urban area was evaluated. Children and caregivers completed a questionnaire about dental health habits. The socioeconomic status was determined. Results: Among the population of 277 children, 224 were elligible. Mean age was six years old (three to ten years old) with fi ve and seven years old mode ages. Dental caries were registered in 127 children (56.7%), 52.8% among children with six years old or younger and 61.4% of the children older than six years old. In temporary dentition the dmf índex among all children was 1.84 (1.5 decayed, 0.067 missing due to caries and 0.27 fi lled), 1.72 (1,45 decayed, 0.033 missing due to caries and 0.24 fi lled) in children with six years old or younger and 1.99 (1.58 decayed, 0.11 missing due to caries and 0,30 fi lled) in children older than six years old. In permanent dentition the DMF index was 0.17 (0.17 decayed), 0.008 (0.008 decayed) in children with six years old or younger and 0.38 (0.38 decayed) in children older than six years old. A significant higher prevalence of caries was found in children who did not wash their teeth daily, (68.9% vs 52%, p < 0.05), that ingested sugars at least once daily (67% vs 48%, p< 0,05) and that belonged to a lower socioeconomic status. Fifty children presented malocclusion (21.1% among children with six years old or younger and 2.0% of the children older than six years old). The presence of malocclusion was associated with the use of a pacifi er (55% vs 19.4%, p< 0.05) and in those children who stopped using a pacifier after the age of three years (31.1% vs 10.7%, p< 0.05), with finger-sucking habit (63.6% vs 20.2%, p< 0.05), with long-lasting sources of sugars daily ingestion (33.3% vs 19.3%, p <0.05) and with the use of bottle-feeding (34.3% vs 20.2%, p< 0.05). Bottle-feeding was associated with the use of a pacifier (25.7% vs 5.8%, p< 0.05) and finger-sucking habit (27.3% vs 8.0%, p <0.05). Discussion: When compared with previous nacional epidemiologic studies a higher proportion of free-caries children were found in this study. Malocclusion was associated with the presence of finger sucking and a pacifier sucking habit beyond three years old. Conclusion: Dental caries and malocclusion prevalence are high, higher in older ages, multifactorial and associated to many preventable factors.
    2009-06Journal article Open access Show more
  • Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy
    Publication . Lobato, L.; Beirao, I.; Silva, M.; Bravo, F.; Silvestre, F.; Guimaraes, S.; Sousa, A.; Noel, LH.; Sequeiros, J.
    Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Lobato L, Beirão I, Silva M, Bravo F, Silvestre F, Guimarães S, Sousa A, Noël LH, Sequeiros J. SourceDepartment of Nephrology and Centro de Estudos de Paramiloidose, Hospital Geral de Santo António and Institute for Molecular and Cell Biology, Porto, Portugal. llobato@netcabo.pt Abstract BACKGROUND: Portuguese type familial amyloid polyneuropathy (FAP) is a neuropathic amyloidosis caused by a mutant transthyretin (TTR). Varying degrees of renal involvement have been reported. Our aim was to assess the value of microalbuminuria (MA) for predicting clinical neurological disease and overt nephropathy in TTR-related amyloidosis. METHODS: All subjects had the TTR Val30Met mutation, and were recruited between 1993 and 1999. We have prospectively evaluated 22 asymptomatic gene carriers (7 male, 15 female; mean age 41.6+/-9.6 years) and 32 patients with neuropathy (14 male, 18 female; 36.8+/-8.8 years, on average, 33.0+/-9.3 years at the onset of neuropathy). We measured urinary albumin excretion every year, if asymptomatic, or every 6 months if already affected. Kidney biopsies were performed in patients with normal urinary albumin excretion, MA, and overt nephropathy, respectively. RESULTS: In asymptomatic carriers, persistent MA was detected in eight (36%) subjects. The presence of MA in asymptomatic gene carriers, compared with those having normal urinary albumin excretion, conferred a 4.8-fold risk of developing neuropathy, usually within the subsequent 3 years. Once neurological signs appeared, nephropathy, manifested as MA, progressed to overt nephropathy in one-half of subjects. In patients with neuropathy, 24 (75%) had MA during follow-up: evolution towards clinical renal disease occurred in 14 (58%) and renal failure occurred in five (21%), always after a course of MA. Proteinuria or renal failure without prior persistent MA were never observed in the present patient cohort. Histopathological evaluation did not reveal glomerular lesions other than amyloid deposits to explain abnormal urinary albumin excretion. The amount of mesangial and vascular-pole amyloid deposits was correlated with the degree of albuminuria. CONCLUSIONS: Microalbuminuria represents the first stage of clinical TTR amyloid nephropathy and is premonitory of neuropathy. Its presence identifies a subgroup of patients who are more prone to develop overt nephropathy. Screening of MA may be important to assess disease onset and to recommend liver transplantation in individuals at risk.
    2003-03Journal article Open access Show more