Plano estrategico Multissectorial de prevenção e controlo de doenças não transmissíveis / Multisectoral strategic plan for the prevention and control of non-communicable diseases

A morte prematura por Doenças Não Transmissíveis (DNTs), continua a ser um dos principais desafios para o desenvolvimento a nível global, ceifando por ano perto de 15 milhões de vidas em idades compreendidas entre 30 e 70 anos. Moçambique não permanece inócuo pois já é notável a transição epidemiológica com o duplo peso das doenças transmissíveis e não transmissíveis. Em África o peso das Doenças Cardiovasculares, Diabetes Mellitus, Doenças Respiratórias Crónicas e o Cancro tem estado a aumentar de forma desproporcional entre os países de baixa e média renda, afetando sobretudo os grupos populacionais mais pobres e vulneráveis, impulsionado por factores como a pobreza, a globalização do mercado, o comércio de produtos prejudiciais à saúde, a crescente urbanização, crescimento e envelhecimento da população. Em Moçambique, à semelhança de muitos países, o desenvolvimento económico está a trazer grandes benefícios, mas também mudanças negativas na dieta e estilos de vida. É estimado que cerca de um terço das mortes no país sejam causadas pelas DNTs, e o risco de mortalidade prematura, ou seja, o risco de morte por DNTs antes dos 70 anos de idade, é de 18%. Este facto é preocupante pois maioria destas mortes prematuras e incapacidade por DNTs, pode ser evitada ou adiada através da redução da exposição aos factores de risco como consumo excessivo de álcool, consumo do tabaco, dieta não saudável e inatividade física.

Normas de manejo da diabetes Mellitus e Hiperatenção arterial 1 edição / Guidelines for the Management of Diabetes Mellitus and Arterial Hypertension 1 edition

Em Moçambique, as doenças crónicas constituem importante causa de morbilidade, de mortalidade precoce e de incapacidade física, particularmente em pessoas em idade produtiva. Este facto contribui significativamente para a redução da produtividade e por conseguinte com impacto no desenvolvimento do país. Com o intuito de garantir medidas de prevenção, diagnóstico e tratamento precoces da Diabetes Mellitus e da Hipertensão Arterial nas unidades sanitárias, são elaboradas as presentes normas de tratamento destas doenças crónicas. Estas normas são dirigidas aos trabalhadores de saúde envolvidos no diagnóstico e tratamento da Diabetes e da Hipertensão em todas as unidades sanitárias e poderão ser de utilidade para médicos, estudantes dos cursos de Medicina, Técnicos e Agentes de Medicina. Sendo a DM e a HTA doenças crónicas e considerando o seu impacto na saúde global, todos os clínicos devem assumir uma postura de responsabilidade, cumprindo e fazendo cumprir rigorosamente estas normas para benefício da comunidade e da saúde pública no nosso País. Como qualquer documento normativo, as presentes normas não são um documento acabado, esperando-se por isso a contribuição de todos que as utilizem para a sua progressiva melhoria

Diabetes Mellitus tipo 1 no Hospital Central de Maputo: Prevalência de hipertensão e complicações oculares / Type 1 Diabetes Mellitus at the Maputo Central Hospital: Prevalence of hypertension and sight complications

O artigo apresenta resultados de um estudo cujo objectivo era determinar o peso da Diabetes Mellitus (DM) tipo 1 entre os doentes com patologia endócrina e a prevalência de hipertensão arterial e complicações oculares no Hospital Central de Maputo (HCM). Do ponto de vista metodológico, a população de estudo foi constituída por cerca de 191 doentes consecutivos com diabetes mellitus tipo 1, observados na consulta de endocrinologia do HCM e na Associação Moçambicana dos Diabéticos, no período de Março de 2006 e Março 2011. A análise estatística dos dados foi feita com recurso ao pacote estatístico SPSS for windows 17.0. Como Resultado, observa-se que a DM tipo 1 representou cerca de 10% dos casos de DM observados no HCM durante o período em referência. Observa-se ainda uma prevalência relativamente elevada da hipertensão arterial (9,9% sistólica e 8,9% diastólica); diferentes tipos de complicações oculares em 14,7% dos doentes de estudo. Também conclui-se que os principais factores de risco para a HTA constituíram a idade em anos e o índice de massa corporal, enquanto que os principais factores de risco para as complicações oculares foram a idade e a duração da doença para a retinopatia diabética (p <.000) e duração da doença para a catarata (p< .001). A Diabetes mellitus tipo 1 constitui um importante problema endócrino nas consultas de especialidade no HCM e apresenta-se com elevada taxa de HTA e complicações oculares.

The article presents results from a study aimed at determining the weight of Diabetes Mellitus (DM) type 1 among patients with endocrine pathologies and the prevalence of hypertension and sight complications in the Maputo Central Hospital (HCM). The research population consisted of 191 consecutive patients with diabetes mellitus type 1 who were observed during endocrinology consultation at the HCM and the Diabetic Mozambican Association, between March 2006 and March 2011. The statistical data was analyzed using SSPS for Windows 17.0. Results showed that DM type 1 represented about 10% of the DM observed cases at the HCM during the period in question. A relatively high prevalence of hypertension was also observed (9.9% systolic and 8.9% diastolic); different types of sight complications were observed in 14.7% of the patients. The study concluded that the main risk factors that cause HTA are age and the body mass index, while that main risk factors for sight complications are age and the duration of the pathology for diabetes retinopathy (p <.000) and the duration of the pathology for cataract (p <.001). the DM type 1 constitutes the most important endocrine problem in the specialized consultations at the HCM and it shows a high rate of HTA and sight complications.

Familial breast/ovarian cancer and BRCA1/2 genetic screening: the role of immunohistochemistry as an additional method in the selection of patients.

Only 20-25% of families screened for BRCA1/2 mutations are found positive. Because only a positive result is informative, we studied the role of BRCA1/2 immunohistochemistry as an additional method for patient selection. From 53 high-risk-affected probands, 18 (34%) had available paraffin blocks of their tumors and were selected for this study. Mutation screening was done by conformation-sensitive gel electrophoresis and multiplex ligation-dependent probe amplification. For immunohistochemistry, 21 neoplastic specimens (15 breast carcinomas, 5 ovary neoplasms, and 1 rectal adenocarcinoma) were analyzed with BRCA1 (monoclonal antibody, Ab-1, oncogene) and BRCA2 (polyclonal antibody, Ab-2, oncogene) antibodies. Absence of the BRCA1 protein was confirmed in negative tumors by Western blotting. Seven patients were positive for BRCA1/2 mutations: 5 for BRCA1 and 2 for BRCA2. Four out of five positive patients had tumors negative for BRCA1 immunostaining, and the remaining 13 BRCA1-negative patients had positive BRCA1 immunostaining in all tumor samples. Sensitivity to predict for BRCA1 mutation carriers was 80%, and specificity was 100%, with a positive predictive value of 100% and a negative predictive value of 93%. This correlation was statistically significant (p=0.001). No correlation was observed for BRCA2. If larger studies confirm these results, high-risk patients with BRCA1-negative tumors should be screened first for this gene.

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

PURPOSE: BRCA2 rearrangements are rare genetic events. A large BRCA2 genomic insertion was recurrently observed in our participants, and we sought to characterize it at the molecular and phenotypic level. PATIENTS AND METHODS: We studied 210 high-risk breast/ovarian cancer families. Fifty-three probands were fully screened for BRCA1/2 mutations, and three of 53 had a large insertion in exon 3 of BRCA2. This finding was analyzed by polymerase chain reaction (PCR), reverse transcriptase PCR (RT-PCR), and sequencing. An additional 157 consecutive families were screened for this mutation by a three-step PCR method. Phenotype and haplotype analysis was also performed. RESULTS: Sixteen BRCA mutations were observed in 19 of 53 patients (36% detection rate). A recurrent Alu motif insertion in position c.156_157 was observed after sequencing of an abnormal fragment obtained after the amplification of BRCA2 exon 3. RT-PCR revealed exon 3 skipping. Screening of this rearrangement identified 14 additional families (out of 157). In total, 17 (8%) of 210 high-risk families ascertained in our clinic were positive for this mutation. Segregation of a common haplotype (from D13S260 to D13S1695) confirmed a common origin, estimated to have occurred 2,400 to 2,600 years ago. The following four cancer phenotypes were observed in the 17 positive families: female breast (n = 9), male breast (n = 4), breast/ovarian (n = 2), and heterogeneous (n = 2). Male breast cancer was more frequently observed in c.156_157insAlu-positive families compared with negative families (23% v 12%, respectively), and 33% of all male breast cancer families with an identified BRCA mutation were c.156_157insAlu positive. CONCLUSION: c.156_157insAlu is a founder mutation of Portuguese origin and is the most frequent BRCA2 rearrangement described to date.

The aggressiveness of cancer care in the last three months of life: a retrospective single centre analysis.

BACKGROUND: There is concern that terminally ill cancer patients are over treated with chemotherapy, even when such treatment is unlikely to palliate symptoms. The study objective was to evaluate the use of chemotherapy in the last three months of life in a cohort of adult patients with advanced solid tumours. METHODS: All adult patients with solid tumours who died in our hospital in 2003 and received chemotherapy for advanced cancer, were included. Detailed data concerning chemotherapy and toxicity, in the last three months of life, were collected from patients' clinical charts. RESULTS: A total of 319 patients were included. Median age was 61 years. Median time from diagnosis of metastatic disease to death was 11 months. The proportion of patients who received chemotherapy in the last three months of life was 66% (n = 211), in the last month 37% and in the last two weeks 21%. Among patients who received chemotherapy in the last three months of life, 50% started a new chemotherapy regimen in this period and 14% in the last month. There was an increased probability of receiving chemotherapy in the last three months of life in younger patients and in patients with breast, ovarian and pancreatic carcinomas. CONCLUSION: There was a large proportion of patients who received chemotherapy in the last three months of life, including initiation of a new regimen within the last 30 days. Thus, further study is needed to evaluate if such aggressive attitude results in better palliation of symptoms at the end of life.