eMelanoBase: An online locus-specific variant database for familial melanoma

A proportion of melanoma,prone individuals in both familial and non,familial contexts has been shown to carry inactivating mutations in either CDKN2A or, rarely, CDK4. CDKN2A is a complex locus that encodes two unrelated proteins from alternately spliced transcripts that are read in different frames. The alpha transcript (exons 1a, 2, and 3) produces the p16INK4A cyclin-dependent kinase inhibitor, while the beta transcript (exons 1beta and 2) is translated as p14ARF, a stabilizing factor of p53 levels through binding to MDM2. Mutations in exon 2 can impair both polypeptides and insertions and deletions in exons 1alpha, 1beta, and 2, which can theoretically generate p16INK4A,p14ARF fusion proteins. No online database currently takes into account all the consequences of these genotypes, a situation compounded by some problematic previous annotations of CDKN2A related sequences and descriptions of their mutations. As an initiative of the international Melanoma Genetics Consortium, we have therefore established a database of germline variants observed in all loci implicated in familial melanoma susceptibility. Such a comprehensive, publicly accessible database is an essential foundation for research on melanoma susceptibility and its clinical application. Our database serves two types of data as defined by HUGO. The core dataset includes the nucleotide variants on the genomic and transcript levels, amino acid variants, and citation. The ancillary dataset includes keyword description of events at the transcription and translation levels and epidemiological data. The application that handles users' queries was designed in the model,view. controller architecture and was implemented in Java. The object-relational database schema was deduced using functional dependency analysis. We hereby present our first functional prototype of eMelanoBase. The service is accessible via the URL www.wmi.usyd.e, du.au:8080/melanoma.html.

Brazil is getting older: demographic changes and epidemiological challenges

Population ageing is currently a phenomenon not only in developed countries but also in third world countries. In this paper the features of a population's ageing and the process of epidemiological transition are discussed along with the worldwide changes in age-structure. Population statistics in Brazil and the characteristics of the elderly population are presented and analysed in the light of recent changes. The Brazilian elderly population is also discussed, particularly the issues relating to the social cost of the aged population, its urban and rural distribution, the elderly by sex, marital status and level of schooling, and emphasis is given to the imbalance of the sexes and the consequences of it for women.

Studies on mosquitoes (Diptera: Culicidae) and anthropic environment: 9- Synanthropy and epidemiological vector role of Aedes scapularis in South-Eastern Brazil

Behaviour comparisons of Aedes scapularis and Ae. serratus are presented. Results were obtained by sampling Aedes adult mosquitoes at several places in the rural anthropic environment in the Ribeira Valley region of S. Paulo State, Brazil. Aedes dominance was shared by those two species, but Ae. scapularis Sshowed a clear tendency to frequent the modified environment, while Ae. serratus was to be found in the more preserved ones, here represented by the vestigial patchy forests. Regarding the open cultivated land and the dwelling environments, Ae. scapularis preponderates. Considering the regional developmental phases, this mosquito showed a remarkable increase in the modified environment differently from Ae. serratus that underwent a considerable decrease in migrating from the forest to the anthropic environment. As a consequence of these results it is reasonable to conclude that Ae. scapularis may be considered as an epidemiologically efficient vector and that it quite probably played this role in the Rocio encephalitis and other arbovirus epidemics.

Epidemiological aspects of centipede (Scolopendromorphae: Chilopoda) bites registered in Greater S. Paulo, SP, Brazil

INTRODUCTION: The lack of basic knowledge on venomous arthropods and the benignity of the clinical manifestations contribute to the centipede bite victims' not being taken to a treatment reference center, leading to underestimation of the number of cases and minimizing the possibility of a broader epidemiological view. An inventory of the centipede bite occurrences in Greater S. Paulo, Brazil, and the therapeutic methods employed, by the main Brazilian medical center for the notification of poisoning by venomous animals, is presented. METHOD: All patient cards of the period 1980-1989 have been checked as to place, month and time of occurrence; sex, age, affected part of the body, signs and symptoms have been observed, as well as the therapeutic methods employed. The centipedes that caused the accidents were identified at the Arthropods Laboratory. RESULTS: It was registered 216 accidents, with a 69% predominance of the Greater S. Paulo and in only 63% of the cases (136) was the agent brought in by the victim for identification. The genera most frequently represented were Cryptops (58%), Otostigmus (33%) and Scolopendra (4%). Of the 136 cases, 87% showed erythema, edema, hemorrhage, burns, cephalalgia, and intense pain. There was a predominance of accidents in the warm rainy season, in the morning and for females between 21 and 60 years of age. Hands and feet were the parts of the body most affected. The benign evolution of the clinical picture (54%) made therapeutical treatment unnecessary. Only the victims of Scolopendra and Otostigmus (46%) were medicated with anesthetics (51%), analgesics (25%), antihistamines and cortisone (24%). CONCLUSION: The reproductive period of the centipedes, associated with their sinanthropic habits, contributes to the greater incidence of accidents in urban areas in the warm rainy season. Only patients bitten by Scolopendra and Otostigmus require therapeutical treatment.

Epidemiological methods for research with drug misusers: review of methods for studying prevalence and morbidity

Epidemiological studies of drug misusers have until recently relied on two main forms of sampling: probability and convenience. The former has been used when the aim was simply to estimate the prevalence of the condition and the latter when in depth studies of the characteristics, profiles and behaviour of drug users were required, but each method has its limitations. Probability samples become impracticable when the prevalence of the condition is very low, less than 0.5% for example, or when the condition being studied is a clandestine activity such as illicit drug use. When stratified random samples are used, it may be difficult to obtain a truly representative sample, depending on the quality of the information used to develop the stratification strategy. The main limitation of studies using convenience samples is that the results cannot be generalised to the whole population of drug users due to selection bias and a lack of information concerning the sampling frame. New methods have been developed which aim to overcome some of these difficulties, for example, social network analysis, snowball sampling, capture-recapture techniques, privileged access interviewer method and contact tracing. All these methods have been applied to the study of drug misuse. The various methods are described and examples of their use given, drawn from both the Brazilian and international drug misuse literature.

Breast cancer in Mexican women: an epidemiological study with cervical cancer control

INTRODUCTION: In Mexico, breast cancer (BC) is one of the main causes of cancer deaths in women, with increasing incidence and mortality in recent years. Therefore, the aim of the study is identify possible risk factors related to BC. METHODS: An epidemiological study of hospital cases of BC and controls with cervical uterine cancer (CUCA) was carried out at eight third level concentration hospitals in Mexico City. The total of 353 incident cases of BC and 630 controls with CUCA were identified among women younger than 75 years who had been residents of the metropolitan area of Mexico City for at least one year. Diagnosis was confirmed histologically in both groups. Variables were analyzed according to biological and statistical plausibility criteria. Univariate, bivariate and multivariate analyses were carried out. Cases and controls were stratified according to the menopausal hormonal status (pre and post menopause). RESULTS: The factors associated with BC were: higher socioeconomic level (OR= 2.77; 95%CI = 1.77 - 4.35); early menarche (OR= 1.32; 95%CI= 0.88 - 2.00); old age at first pregnancy (>31 years: OR= 5.49; 95%CI= 2.16 - 13.98) and a family history of BC (OR= 4.76; 95% CI= 2.10 - 10.79). In contrast, an increase in the duration of the breastfeeding period was a protective factor (>25 months: OR= 0.38; 95%CI= 0.20 - 0.70). CONCLUSIONS: This study contributes to the identification of risk factors for BC described in the international literature, in the population of Mexican women. Breastfeeding appears to play an important role in protecting women from BC. Because of changes in women`s lifestyles, lactation is decreasing in Mexico, and young women tend not to breastfeed or to shorten the duration of lactation.

Do economic and financial firm's situation affect the quality if financial reports?

We investigate whether firms’ economic and financial situation influence the Quality of their Financial Reports (FRQ). FRQ is fundamental for investors and it affects the international capital movements [Bradshaw et al. (2004)] and Gelos and Wei (2005)]. Following Schipper and Vicent (2003) we use two issues to access earnings quality: abnormal accruals and earnings persistence. For seventeen European countries, we find evidence that the economic performance affects FRQ. Big firms and those with high current earnings exhibit better financial information. These results are robust since they don’t depend on FRQ proxy and we have the same evidence when we estimate regression with economical and financial factors separately or together. About financial situation, it seems not to affect FRQ. However, in high leveraged firms, the capital structure becomes determinant.

Methodology in the epidemiological research of respiratory diseases and environmental pollution

There are complex and diverse methodological problems involved in the clinical and epidemiological study of respiratory diseases and their etiological factors. The association of urban growth, industrialization and environmental deterioration with respiratory diseases makes it necessary to pay more attention to this research area with a multidisciplinary approach. Appropriate study designs and statistical techniques to analyze and improve our understanding of the pathological events and their causes must be implemented to reduce the growing morbidity and mortality through better preventive actions and health programs. The objective of the article is to review the most common methodological problems in this research area and to present the most available statistical tools used.

Modern cancer epidemiological research: genetic polymorphisms and environment

Individual cancer susceptibility seems to be related to factors such as changes in oncogenes and tumor suppressor genes expression, and differences in the action of metabolic enzymes and DNA repair regulated by specific genes. Epidemiological studies on genetic polymorphisms of human xenobiotics metabolizing enzymes and cancer have revealed low relative risks. Research considering genetic polymorphisms prevalence jointly with environmental exposures could be relevant for a better understanding of cancer etiology and the mechanisms of carcinogenesis and also for new insights on cancer prognosis. This study reviews the approaches of molecular epidemiology in cancer research, stressing case-control and cohort designs involving genetic polymorphisms, and factors that could introduce bias and confounding in these studies. Similarly to classical epidemiological research, genetic polymorphisms requires considering aspects of precision and accuracy in the study design.

Insuficiência cardíaca: a utilidade da Ecocardiografia

Objetivos Os principais objetivos deste trabalho foram: 1) Rever as características da IC: epidemiologia, conceito, classificação, etiologia, fisiopatologia, diagnóstico e tratamento; 2) Demonstrar a importância da Ecocardiografia na IC: (a) no diagnóstico, (b) no acompanhamento e (c) na seleção da opção terapêutica. Como objetivo secundário: Reunir toda a informação com vista à produção de um manual de apoio às aulas. Metodologia Os estudos que serviram de base a este trabalho foram pesquisados a partir das palavras-chave “echocardiography”, “heart failure”, “diagnosis”, “treatment” utilizando as bases de dados PubMed, Scopus e ISI Web of Science. A pesquisa foi limitada a artigos publicados em português, inglês e espanhol, sem restrição por tipo de artigo ou ano de publicação. Ao longo da realização deste trabalho, foram sendo recolhidas referências de outros artigos citados nos estudos inicialmente selecionados, expandindo assim a bibliografia. Para conhecer a situação particular de Portugal, foram pesquisados estudos realizados com a população portuguesa. Foi dada particular atenção às várias recomendações existentes quer para a “Insuficiência Cardíaca” quer para a “Utilidade da Ecocardiografia”, disponíveis gratuitamente online, pois estas desempenham um papel fundamental quer na prática clínica, quer na investigação (estudos epidemiológicos, estudos obrigacionais e ensaios clínicos).

Economic burden of expected epidemiological changes in diseases related to tobacco, Mexico

OBJECTIVE: To determine health care costs and economic burden of epidemiological changes in diseases related to tobacco consumption. METHODS: A time-series analysis in Mexico (1994-2005) was carried out on seven health interventions: chronic obstructive pulmonary diseases, lung cancer with and without surgical intervention, asthma in smokers and non-smokers, full treatment course with nicotine gum, and full treatment course with nicotine patch. According with Box-Jenkins methodology, probabilistic models were developed to forecast the expected changes in the epidemiologic profile and the expected changes in health care services required for selected interventions. Health care costs were estimated following the instrumentation methods and validated with consensus technique. RESULTS: A comparison of the economic impact in 2006 vs. 2008 showed 20-90% increase in expected cases depending on the disease (p<0.05), and 25-93% increase in financial requirements (p<0.01). The study data suggest that changes in the demand for health services for patients with respiratory diseases related to tobacco consumption will continue showing an increasing trend. CONCLUSIONS: In economic terms, the growing number of cases expected during the study period indicates a process of internal competition and adds an element of intrinsic competition in the management of preventive and curative interventions. The study results support the assumption that if preventive programs remain unchanged, the increasing demands for curative health care may cause great financial and management challenges to the health care system of middle-income countries like Mexico.

Validade da escala de depressão do Center for Epidemiological Studies entre idosos brasileiros

OBJETIVO: Obter validade interna, de construto e de critério para a escala Center for Epidemiological Studies - Depression, em idosos. MÉTODOS: O instrumento foi aplicado a 903 idosos residentes em Juiz de Fora, Estado de Minas Gerais, entre os anos de 2002-2003. Os resultados foram comparados com a versão brasileira da Geriatric Depression Scale, aplicado a uma subamostra de 446 respondentes. A consistência interna das duas escalas foi aferida pelo coeficiente alfa de Cronbach, calculado para os itens em sua totalidade e para os itens de cada fator obtido para o instrumento avaliado. Para avaliar a validade de construto, seus 20 itens foram submetidos à análise fatorial exploratória a fim de conhecer o padrão de variação conjunta dos itens e a variância explicada por cada fator. RESULTADOS: O instrumento revelou índices satisfatórios de validade interna (alfa=0,860), sensibilidade (74,6%) e especificidade (73,6%), para nota de corte >11. Entretanto, apontou freqüência relativamente alta de falsos positivos em comparação à Geriatric Depression Scale: de 33,8% vs. 15%. A análise fatorial exploratória do instrumento gerou estrutura fatorial com três fatores: afetos negativos, dificuldades de iniciar comportamentos e afetos positivos. CONCLUSÕES: O instrumento mostrou-se psicometricamente adequado para uso entre idosos. Entretanto, estudos adicionais de natureza longitudinal e transversal, desenvolvidos em diferentes contextos, poderão esclarecer os efeitos de variáveis somáticas e situacionais sobre os resultados desse instrumento em pessoas idosas.

Europa nach 1945 – zur situation nach dem zweiten weltkrieg

Bevor man „Europa― als politisches Konzept in zahlreichen theoretischen Texten erörterte, ist in der deutschen Literatur der Gedanke eines vereinten Europas schon seit dem 16. Jahrhundert thematisiert worden. Im folgenden Aufsatz sollen Texte der Essayisten Ernst Jünger, Frank Thiess, Werner Bergengruen und Klaus Mann (20. Jahrhundert), in denen ihr Standpunkt bezüglich des Europa-Gedanken, d.h. ein vereintes Europa zur Zeit nach dem Zweiten Weltkrieg zum Ausdruck gebracht wird. Dabei sind hauptsächlich Gemeinsamkeiten und Differenzen zwischen den Autoren unter geistigen und historischen Gesichtspunkten zu ziehen.