Browsing by Author "Santos, C."
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- Artrodese Cervical C1-C2 pelas técnicas de Harms e MagerlPublication . Sousa, C.; Silva, L.; Santos, C.; Silva, E.; Figueiredo, F.INTRODUÇÃO: A instabilidade atlantoaxial pode resultar em alterações neurológicas, dor e limitação da mobilidade cervical. É uma situação grave pelo risco de tetraparésia ou morte súbita. Na literatura estão descritas várias técnicas de estabilização cirúrgica C1-C2 e neste artigo foram comentadas com maior ênfase as técnicas de Harms e Magerl, as mais utilizadas em nossa instituição. OBJETIVO: Descrever a casuística das artrodeses atlantoaxiais realizadas nos últimos cinco anos no Centro Hospitalar do Porto, particularmente, taxa de consolidações, complicações observadas, reintervenções e comparação com os estudos publicados. MÉTODOS: Estudo retrospectivo, com cinco anos, dos doentes submetidos a artrodese atlantoaxial no Centro Hospitalar do Porto. RESULTADOS: Foram operados 11 doentes no período do estudo, a maioria com instabilidade de causa traumática. O método de artrodese mais utilizado foi o descrito por Magerl. Não foram observadas lesões vasculares. Foram registradas complicações infecciosas em quatro doentes, sendo que essas infecções foram mais comuns em doentes com patologias inflamatórias de base. Obteve-se uma taxa de consolidação da artrodese de 100 por cento; não foram necessárias cirurgias de revisão. CONCLUSÃO: Em nossa série, as artrodeses posteriores pelas técnicas de Harms e de Magerl resultaram em um ótimo controle da instabilidade C1-C2. Doentes com indicação de artrodese por instabilidade reumática apresentaram alta taxa de complicações infecciosas.(AU)
- AVALIAÇÃO DOS SISTEMAS DE VIGILÂNCIA EPIDEMIOLÓGICA CENTRADA NO LABORATÓRIO - ANÁLISE DOS ÚLTIMOS QUATRO ANOSPublication . Aires, E.; Fernandes, A.; Rodrigues, P.; Santos, C.; Calado, E.; Aragão, I.; Marques, L.; Palma, L.; Lopes, L.; Polónia, J.; Oliveira, J.; Vasconcelos, C.AVALIAÇÃO DOS SISTEMAS DE VIGILÂNCIA EPIDEMIOLÓGICA CENTRADA NO LABORATÓRIO - ANÁLISE DOS ÚLTIMOS QUATRO ANOS Ernestina Aires1, Alexandra Fernandes1, Paula Rodrigues1, Cláudia Santos1,2, Elsa Calado1,2, Irene Aragão1, 3, Laura Marques1, 4, Lígia Palma1, 5, Luísa Lopes1, 5, José Polónia1, 6, Júlio Oliveira1, 7, Carlos Vasconcelos1, 8 1Comissão de Controlo da Infecção (CCI), HSA/CHP; 2Serviço de Microbiologia, HSA/CHP; 3Unidade de Cuidados Intensivos Polivalentes (UCIP), HSA/CHP;4Serviço de Pediatria Médica, HMP/CHP; 5Serviço de Neonatologia, MJD/CHP; 6 Serviço de Cirurgia/Unidade 2, HSA/CHP; 7 Serviço de Medicina A, HSA/CHP; 8Serviço de Imunologia Clinica, HSA/CHP Hospital de Santo António, Centro Hospitalar do Porto (HSA/CHP), Porto. Hospital Maria Pia, Centro Hospitalar do Porto (HMP/CHP), Porto. Maternidade Júlio Dinis, Centro Hospitalar do Porto (MJD/CHP), Porto. Introdução A vigilância epidemiológica é a monitorização de todos os aspectos da ocorrência e da propagação da doença que são pertinentes para o seu controlo efectivo. Implica colheita contínua, análise e interpretação dos dados, bem como a divulgação dos mesmos. Os objectivos da VE passam pelo reconhecimento atempado de surtos infecciosos, identificação de doentes infectados/colonizados, implementação de medidas de controlo de infecção adequadas a cada situação, avaliação da eficiência das medidas preventivas e produção de relatórios de acção pela comissão de controlo de infecção. Objectivos O objectivo deste estudo é analisar a incidência de infecção no Hospital Geral de Santo António (HSA), baseado num programa de VE com a finalidade de conhecer a incidência da infecção e promover a utilização dos dados locais na implementação de medidas de controlo de infecção. Material e Métodos Análise dos dados fornecidos pelo laboratório de microbiologia, através da aplicação informática “Vigi@ct”, que disponibiliza à Comissão de Controlo de Infecção os resultados microbiológicos dos produtos biológicos colhidos aos doentes internados no HSA, no período de 2007 a 2010. Resultados As infecções hospitalares têm decrescido. Verifica-se uma diminuição de 5,9 em 2007 para 4,9 infecções por 1000 dias de internamento em 2010. As Infecções do Trato Urinário são as mais frequentes, seguindo-se as Respiratórias. As Infecções da Corrente Sanguínea ocupam o terceiro lugar da tabela e a Infecção do Local Cirúrgico a quarta posição. Os serviços clínicos são envolvidos para discussão dos casos e decisão das medidas de controlo aplicáveis. É uma articulação dinâmica entre os profissionais dos serviços e a CCI, que permite obter resultados positivos no combate à Infecção Nosocomial, e consequente diminuição da incidência das Infecções Associadas aos Cuidados de Saúde. Discussão e Conclusões Os factores que influenciam o desenvolvimento de infecção nosocomial são geralmente a patogenicidade do microrganismo, os factores ambientais, a susceptibilidade do doente e a resistência bacteriana. Globalmente verifica-se que os internamentos têm aumentado, mantendo-se a demora média em cerca de 6 dias. O número de infecções tem reduzido progressivamente. Os microrganismos mais frequentemente identificados foram a Escherichia coli (988 isolados) e a Pseudomonas aeruginosa (778 isolados), seguidas do MRSA com 555 casos isolados. A avaliação dos sistemas de vigilância epidemiológica visa promover a melhor utilização dos recursos do sistema de saúde. Proporciona dados úteis relativamente às tendências das infecções e à eficácia das medidas de controlo de infecção recomendadas pela CCI e implementadas pelos profissionais de saúde. Apresentador: Ernestina Aires, Enfermeira, Comissão de Controlo da Infecção, HSA/CHP; Aluna de Mestrado em Infecções Associadas aos Cuidados de Saúde ECS/UCP.
- Deciphering the Contribution of Biofilm to the Pathogenesis of Peritoneal Dialysis Infections: Characterization and Microbial Behaviour on Dialysis FluidsPublication . Sampaio, J.; Machado, D.; Gomes, A.; Machado, I.; Santos, C.; Lima, N.; Carvalho, M.; Cabrita, A.; Rodrigues, A.; Martins, M.Infections are major complications in peritoneal dialysis (PD) with a multifactorial etiology that comprises patient, microbial and dialytic factors. This study aimed at investigating the contribution of microbial biofilms on PD catheters to recalcitrant infections and their interplay with PD related-factors. A prospective observational study was performed on 47 patients attending Centro Hospitalar of Porto and Vila Nova de Gaia/Espinho to whom the catheter was removed due to infectious (n = 16) and non-infectious causes (n = 31). Microbial density on the catheter was assessed by culture methods and the isolated microorganisms identified by matrix-assisted laser desorption/ionization time-of-flight intact cell mass spectrometry. The effect of conventional and three biocompatible PD solutions on 16 Coagulase Negative Staphylococci (CNS) and 10 Pseudomonas aeruginosa strains planktonic growth and biofilm formation was evaluated. Cultures were positive in 87.5% of the catheters removed due infectious and 90.3% removed due to non-infectious causes. However, microbial yields were higher on the cuffs of catheters removed due to infection vs. non-infection. Staphylococci (CNS and Staphylococcus aureus) and P. aeruginosa were the predominant species: 32% and 20% in the infection and 43.3% and 22.7% in the non-infection group, respectively. In general, PD solutions had a detrimental effect on planktonic CNS and P. aeruginosa strains growth. All strains formed biofilms in the presence of PD solutions. The solutions had a more detrimental effect on P. aeruginosa than CNS strains. No major differences were observed between conventional and biocompatible solutions, although in icodextrin solution biofilm biomass was lower than in bicarbonate/lactate solution. Overall, we show that microbial biofilm is universal in PD catheters with the subclinical menace of Staphylococci and P. aeruginosa. Cuffs colonization may significantly contribute to infection. PD solutions differentially impact microbial species. This knowledge is important for the development of infection diagnosis, treatment and preventive strategies.
- High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesPublication . Silveira, I.; Afonso, I.; Guimarães, L.; Mendonça, P.; Santos, C.; Maciel, P.; Matos, J.; Costa, M.; Barbot, C.; Tuna, A.; Barros, J.; Jardim, L.; Coutinho, P.; Sequeiros, J.Abstract The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. Recently, an untranslated (CTG)n expansion on chromosome 13q was described as being the cause of SCA8. We have now (1) assessed the repeat size in a group of patients with ataxia and a large number of controls, (2) examined the intergenerational transmission of the repeat, and (3) estimated the instability of repeat size in the sperm of one patient and two healthy controls. Normal SCA8 chromosomes showed an apparently trimodal distribution, with classes of small (15-21 CTGs), intermediate (22-37 CTGs), and large (40-91 CTGs) alleles; large alleles accounted for only0.7% of all normal-size alleles. No expanded alleles (>/=100 CTGs) were found in controls. Expansion of the CTG tract was found in five families with ataxia; expanded alleles (all paternally transmitted) were characterized mostly by repeat-size contraction. There was a high germinal instability of both expanded and normal alleles: in one patient, the expanded allele (152 CTGs) had mostly contraction in size (often into the normal range); in the sperm of two normal controls, contractions were also more frequent, but occasional expansions into the upper limit of the normal size range were also seen. In conclusion, our results show (1) no overlapping between control (15-91) and pathogenic (100-152) alleles and (2) a high instability in spermatogenesis (both for expanded and normal alleles), suggesting a high mutational rate at the SCA8 locus.
- Impact of pre-transplant anti-MICA sensitization in graft rejection and survivalPublication . Costa, R.; Malheiro, J.; Tafulo, S.; Santos, C.; Almeida, M.; Pedroso, S.; Martins, L.; Dias, L.; Castro-Henriques, A.Background: Evidence supporting deleterious effect of preformed major histocompatibility class I chain-related A (MICA) antibodies in rejection incidence and graft survival is still unclear. Methods: Retrospective analysis of 554 kidney transplanted patients. Comparison between positive or negative for MICA antibodies patients was performed to characterize sensitizing triggers. Further classification according to pre-transplant flow cytometry-recorded anti–MICA and/or anti-human leukocyte antigen (HLA) antibodies was made to determine first year rejection incidence and graft survival. Multivariate analysis was applied to determine predictors for acute rejection. Results: Pre-formed anti-MICA antibodies were detected in 41 patients (7.4%). HLA sensitization, blood transfusions and pregnancies were frequently found in anti-MICA+ patients but only pre-formed anti-HLA class I antibodies showed independent association (OR 2.67, p= 0.02). Comparing to MICA-/HLA–, MICA-/HLA+ group presented significantly lower first year rejection-free survival (78.6% vs. 89.3%, p< 0.01), mostly occurred in the first six months, while no difference was found in MICA+/HLA– (88.9% vs. 89.3%, p= ns). MICA-/HLA+ showed independent impact in rejection (OR 2.09, p= 0.03), while no evidence was found in MICA+/HLA- (OR 1.08, p= ns). At 4 years, MICA-/HLA+ group presented lower graft survival (85.8% vs. 95.3%, p= 0.03). Again, no difference was found in MICA+/HLA- group (95.1% vs. 95.3%, p= ns). Conclusion: Our results do not support HLA-independent deleterious pathogenic role of pre-formed MICA antibodies on first year rejection incidence and graft survival.
- Improvement in the molecular diagnosis of Machado-Joseph diseasePublication . Maciel, P.; Costa, M.; Ferro, A.; Rousseau, M.; Santos, C.; Gaspar, C.; Barros, J.; Rouleau, G.; Coutinho, P.; Sequeiros, J.Abstract BACKGROUND: Direct detection of the gene mutation allows for the confirmation of the clinical diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal dominant spinocerebellar ataxia worldwide. OBJECTIVE: To address the main difficulties in our national MJD predictive testing program. The first was the emergence of intermediate alleles, for which it is not yet possible to determine whether they will cause disease. The second was the issue of homoallelism, ie, homozygosity for 2 normal alleles with exactly the same (CAG)(n) length, which occurs in about 10% of all test results. METHODS: A large pedigree with 1 affected patient carrying a 71 and a 51 CAG repeat and 2 asymptomatic relatives carrying the 51 CAG repeat and normal-size alleles underwent clinical and molecular studies. Intragenic haplotypes for these alleles were determined. A representative sample of the healthy population in the region was obtained to assess the distribution of the normal (CAG)(n) length. We established the genotype for 4 intragenic polymorphisms in the gene for MJD (MJD1) in 21 homoallelic individuals, to distinguish their 2 normal chromosomes. In addition, we developed a new Southern blot method to completely exclude cases of nonamplification of expanded alleles in the homoallelic individuals. RESULTS: The study of the family in which the 51 CAG repeat was found suggests that the allele is apparently not associated with disease. These intermediate alleles were not present in a large sample of the healthy population from the same region. Intragenic polymorphisms allowed distinction of the 2 different normal alleles in all cases of homoallelism. The absence of an expanded allele was also confirmed by Southern blot. CONCLUSIONS: We propose an improved protocol for molecular testing for MJD. These strategies, developed to overcome the practical difficulties mostly in the presymptomatic and prenatal diagnosis of MJD, should prove useful for other polyglutamine-related disorders.
- Pancitopenia num lactentePublication . Contreiras, M.; Vieira, F.; Santos, C.; Guimarães, J.Introdução: No lactente a causa mais frequente de deficiência de cobalamina é a carência alimentar da mãe, e geralmente em crianças em aleitamento materno exclusivo. As manifestações clínicas nos primeiros meses de vida, incluem, irritabilidade, má progressão estaturoponderal, apatia e anorexia, bem como manifestações neurológicas como hipotonia e regressão no desenvolvimento psicomotor. Caso clínico: Apresenta-se um caso de anemia megaloblástica por défice de cobalamina num lactente com sete meses de idade em aleitamento materno exclusivo. Um mês antes do internamento apresentava apatia e regressão no desenvolvimento psicomotor, a que mais tarde se associou palidez cutânea. A avaliação laboratorial evidenciou pancitopenia com anemia grave. Conclusão: A idade de início precoce e a longa duração dos sintomas neurológicos podem contribuir para a persistência de sintomas a longo prazo, sendo por isso fundamentais o diagnóstico e tratamento precoces. ABSTRACT Introduction: The most common cause of cobalamin deficiency in infants is dietary deficiency in the mother, usually in those children who are exclusively breastfed. In the first months of life, the clinical manifestations of cobalamin deficiency include irritability, failure to thrive, apathy, anorexia, and neurological manifestations such as hypotonia or developmental regression. Case report: We report a case of megaloblastic anaemia due to cobalamin deficiency in a seven-month-old girl who was exclusively breastfed. One month before being admitted she started apathy and developmental regression, later associated with pallor. Laboratory findings showed pancytopenia with severe anaemia. Conclusions: The early age of onset and long duration of neurological symptoms may contribute to the development of long-term symptoms, so early diagnosis and treatment are of extreme importance.
- Pancreas-Kidney Transplantation: Analysis of 150 patients from one Centre in PortugalPublication . Martins, La Salete; Fonseca, Isabel; Aguiar, P.; Rocha, A.; Costa, R.; Santos, C.; Malheiro, J.; Pedroso, S.; Almeida, M.; Dias, L.; Castro-Henriques, A.; Cabrita, A.; Davide, J.Introduction: Simultaneous pancreas-kidney transplantation (SPKT) outcomes are conditioned in the short-term mostly by post-operative complications. In the long-term, cardiovascular (CV) disease and immunological loss are the main limitations to transplant survival. Aims: To analyse retrospectively the results from 150 SPKT performed at our centre. Patients and Methods: The 81 females and 69 males had a mean age of 35±6 years; they were diabetic for 24±6 years and had been on dialysis for 30±21months (except 5 preemptive). Anti-lymphocyte globulin, tacrolimus, mycophenolate and steroids were used as immunosuppressive therapy. Deceased-donor mean age was 28±11 years. In 28.7% the transplant was performed with 6 HLA-mismatches. Results: Acute rejection’s incidence was 16%. Ten SPKT patients died; infection was the leading cause of death (five cases), followed by Cardiovascular/cerebrovascular disease (three cases). In 21 patients the pancreas failed, mainly due to thrombosis or bleeding (11 cases), and infection (five cases); in two it was due to late acute rejection. In four patients only the kidney failed, due to chronic rejection. Five patients lost both grafts, from late acute rejection in four and thrombosis in one. We analyzed the 110 SPKT patients (73.3%) with both grafts functioning. Their mean serum creatinine was 1.2±0.4mg/dl; creatinineclearance was 76±24 ml/min; fasting glycaemia was 81±10mg/dl; and HbA1c was 5.3±0.4%. Hypertension has been treated in 47.2% of patients, in the majority (28.2%) with only one drug. Hyperlipidaemia was observed in 19.1% and excessive weight (>25kg/m2) in 17.3%. Conclusions: From our cohort of SPKT, 93.3% of patients are alive, 73.3% have both grafts functioning. Rejection was the main cause of late pancreas loss. Early mortality was due to infection (3.3%). CV/cerebrovascular disease was the main cause of late mortality (2%). The prevalence of hyperlipidaemia and overweight was inferior to 20%. Hypertension was the most frequently found CV risk factor.
- Portuguese consensus document for the management of alpha-1-antitrypsin deficiencyPublication . Lopes, A.; Mineiro, M.; Costa, F.; Gomes, J.; Santos, C.; Antunes, C.; Maia, D.; Melo, R.; Canotilho, M.; Magalhães, E.; Vicente, I.; Valente, C.; Gonçalves, B.; Conde, B.; Guimarães, C.; Sousa, C.; Amado, J.; Brandão, M.; Sucena, M.; Oliveira, M.; Seixas, S.; Teixeira, V.; Telo, L.Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.
- Qualidade de vida da pessoa com traqueostomia na área do Grande PortoPublication . Gonçalves, G.; Santos, C.; Ribeiro, A.