RESUMO
Large genome-wide association studies (GWAS) have increased our knowledge of the genetic risk factors of rheumatoid arthritis (RA). However, little is known about genetic susceptibility in populations with a large admixture of Amerindian ancestry. The aim of the present study was to test the generalizability of previously reported RA loci in a Latin American (LA) population with admixed ancestry. We selected 128 single nucleotide polymorphisms (SNPs) in linkage equilibrium, with high association to RA in multiple populations of non-Amerindian origin. Genotyping of 118 SNPs was performed in 313 RA patients/487 healthy control subjects by mid-density arrays of polymerase chain reaction (PCR). Some of the identified associations were validated in an additional cohort (250 cases/290 controls). One marker, the SNP rs2451258, located upstream of T Cell Activation RhoGTPase Activating Protein (TAGAP) gene, showed significant association with RA (p = 5 × 10-3), whereas 18 markers exhibited suggestive associations (p < 0.05). Haplotype testing showed association of some groups of adjacent SNPs around the signal transducer and activator of transcription 4 (STAT4) gene (p = 9.82 × 10-3 to 2.04 × 10-3) with RA. Our major finding was little replication of previously reported genetic associations with RA. These results suggest that performing GWAS and admixture mapping in LA populations has the potential to reveal novel loci associated with RA. This in turn might help to gain insight into the 'pathogenomics' of this disease and to explore trans-population differences for RA in general.
Assuntos
Artrite Reumatoide/genética , Estudos de Associação Genética/métodos , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Artrite Reumatoide/etnologia , Povo Asiático/genética , Estudos de Coortes , Feminino , Frequência do Gene , Estudos de Associação Genética/estatística & dados numéricos , Predisposição Genética para Doença/etnologia , Estudo de Associação Genômica Ampla/estatística & dados numéricos , Genótipo , Humanos , América Latina , Masculino , Pessoa de Meia-Idade , População Branca/genética , Adulto JovemRESUMO
INTRODUCTION: Chronic granulomatous disease (CGD) is a disorder of phagocyte function, characterized by pyogenic infections and granuloma formation caused by defects in NADPH oxidase complex activity. Although the effect of CGD mainly reflects the phagocytic compartment, B cell responses are also impaired in patients with CGD. MATERIALS AND METHODS: Flow cytometric analysis was performed on peripheral blood samples from 35 CGD patients age-matched with healthy controls (HC). The target cells of our study were the naive (IgD+/CD27-), memory (IgD-/CD27+), and B1a (CD5+) cells. Immunoglobulins (Igs) were also measured. This study was performed in a Latin American cohort. RESULTS: We found significantly higher levels of naive B cells and B1a cells, but lower levels of memory B cells were found in CGD patients compared to HC. There was no significant difference of cell percentages per inheritance type. DISCUSSION: Our findings suggest that the deficiency of NADPH oxidase components can affect the differentiation of naive B cells to memory B cells. Consequently, memory cells will be low, which also influenced the expression of CD27 in memory B cells and as a result, the percentage of naive cells increases. An altered phenotype of B lymphocytes in CGD patients may contribute to the opportunistic infections and autoimmune disorders that are seen in this disease.
Assuntos
Subpopulações de Linfócitos B/imunologia , Linfócitos B/imunologia , Doença Granulomatosa Crônica/imunologia , NADPH Oxidase 2/genética , Adolescente , Adulto , Separação Celular , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Citometria de Fluxo , Doença Granulomatosa Crônica/genética , Humanos , Memória Imunológica , Imunofenotipagem , Lactente , Masculino , México , Membro 7 da Superfamília de Receptores de Fatores de Necrose Tumoral/metabolismo , Adulto JovemRESUMO
Swimming is beneficial for persons with haemophilia (PWH) providing good maintenance of the cardiovascular and musculoskeletal system and improving many psychological characteristics. In the Desafío del Caribe Project, young PWH from Venezuela and Mexico took part in an open water competition in the Gulf of Mexico under a multidisciplinary team supervision. Eight severe haemophilia A, two moderate haemophilia A, one severe haemophilia B and two moderate haemophilia B subjects were included. Haematological, musculoskeletal and psychological evaluations were carried out before and during training for the competition. Training program included physical exercise routines and swimming practices that alternated between pools and open water. Swimmers had coverage with factor concentrates before pool and open water trainings. In physiatric evaluations, the Hemophilia Joint Health Score (HJHS) was used. The objective of the psychology area was to analyse self-esteem, precompetition anxiety, coping mechanisms and relaxation levels. The need of factor prophylaxis before intense trainings was confirmed. In the musculoskeletal system a decrease of elbow pain as well as an increase of muscle strength in the ankles were observed. In the psychological area significant differences between the first and second test in self-esteem levels, cognitive anxiety and group cohesion were found. PWH must be provided with orientation and encouragement to practice swimming regularly. High competition exercise must be supervised by a multidisciplinary team which must evaluate the pros and cons of the activity to make relevant recommendations.
Assuntos
Hemofilia A/fisiopatologia , Hemofilia A/psicologia , Hemofilia B/fisiopatologia , Hemofilia B/psicologia , Natação , Adolescente , Testes Hematológicos , Hemofilia A/sangue , Hemofilia B/sangue , Humanos , Exame Físico , Autoimagem , Adulto JovemRESUMO
OBJECTIVE: To conduct a comprehensive survey of mobile health (mHealth) research initiatives in Brazil, discussing current challenges, gaps, opportunities and tendencies. METHODS: Systematic review of publicly available electronic documents related to mHealth, including scientific publications, technical reports and descriptions of commercial products. Specifically, 42 projects are analyzed and classified according to their goals. This analysis considers aspects such as security features provided (if any), the health condition that are focus of attention, the main providers involved in the projects development and deployment, types of devices used, target users, where the projects are tested and/or deployed, among others. RESULTS: The study shows a large number (86%) of mHealth solutions focused on the following categories: health surveys, surveillance, patient records and monitoring. Meanwhile, treatment compliance, awareness raising and decision support systems are less explored. The main providers of solutions are the universities (56%) and health units (32%), with considerable cooperation between such entities. Most applications have physicians (55%) and Community Health Agents (CHAs) (33%) as targeted users, the latter being important elements in nation-wide governmental health programs. Projects focused on health managers, however, are a minority (5%). The majority of projects do not focus on specific diseases but rather general health (57%), although solutions for hearth conditions are reasonably numerous (21%). Finally, the lack of security mechanisms in the majority of the surveyed solutions (52%) may hinder their deployment in the field due to the lack of compliance with general regulations for medical data handling. CONCLUSION: There are currently many mHealth initiatives in Brazil, but some areas have not been much explored, such as solutions for treatment compliance and awareness raising, as well as decision support systems. Another research trend worth exploring refers to creating interoperable security mechanisms, especially for widely explored mHealth categories such as health surveys, patient records and monitoring. Challenges for the expansion of mHealth solutions, both in number and coverage, include the further involvement of health managers in the deployment of such solutions and in coordinating efforts among health and research institutions interested in the mHealth trend, possibly exploring the widespread presence of CHAs around the country as users of such technology.
Assuntos
Projetos de Pesquisa , Telemedicina/estatística & dados numéricos , Brasil , Humanos , Programas Nacionais de Saúde , Telemedicina/métodos , Telemedicina/normasRESUMO
El objetivo del artículo es presentar los resultados correspondientes a una investigación que se enmarca en un proyecto UBACyT 2008-2010, cuyo título es Evaluación Nacional de la Inteligencia Sensoriomotriz a bebés de 6 a 30 meses. El objetivo principal de dicha investigación es conocer las etapas del proceso de construcción de la inteligencia práctica en bebés argentinos en las distintas provincias de la Argentina y la elaboración de nuevos baremos a nivel nacional para la Escala Argentina de Inteligencia Sensoriomotriz (EAIS). La muestra se encuentra compuesta por 800 niños de 6 a 30 meses de edad de las provincias de Buenos Aires y CABA, Córdoba, Entre Ríos, Santa Fe, Salta, Chaco, Misiones, Mendoza, Santa Cruz y Río Negro. No se observaron diferencias significativas entre las provincias argentinas en los niveles de desarrollo cognitivo en los bebés. No ha sido necesaria la elaboración de tablas diferenciales de baremos por región. Se presentan las tablas de baremos para la EAIS para la evaluación del desarrollo cognitivo en bebés de 6 a 30 meses de edad a nivel nacional.
Assuntos
Humanos , Lactente , Criança , Desenvolvimento Infantil , Inteligência , Testes de Inteligência , Argentina , Destreza MotoraRESUMO
El objetivo del artículo es presentar los resultados correspondientes a una investigación que se enmarca en un proyecto UBACyT 2008-2010, cuyo título es ôEvaluación Nacional de la Inteligencia Sensoriomotriz a bebés de 6 a 30 mesesö. El objetivo principal de dicha investigación es conocer las etapas del proceso de construcción de la inteligencia práctica en bebés argentinos en las distintas provincias de la Argentina y la elaboración de nuevos baremos a nivel nacional para la Escala Argentina de Inteligencia Sensoriomotriz (EAIS). La muestra se encuentra compuesta por 800 niños de 6 a 30 meses de edad de las provincias de Buenos Aires y CABA, Córdoba, Entre Ríos, Santa Fe, Salta, Chaco, Misiones, Mendoza, Santa Cruz y Río Negro. No se observaron diferencias significativas entre las provincias argentinas en los niveles de desarrollo cognitivo en los bebés. No ha sido necesaria la elaboración de tablas diferenciales de baremos por región. Se presentan las tablas de baremos para la EAIS para la evaluación del desarrollo cognitivo en bebés de 6 a 30 meses de edad a nivel nacional.(AU)
Assuntos
Humanos , Lactente , Criança , Testes de Inteligência , Inteligência , Desenvolvimento Infantil , Destreza Motora , ArgentinaRESUMO
O Instituto do Coração tem envidado esforços para integrar todas as informações clínicas dentro da Instituição. Nos últimos anos o InCor implementou com sucesso um sistema para transmissão, arquivamento, recuperação, processamento e visualização de Imagens Médicas e um Sistema de Informações Hospitalares (HIS) que armazena as informações administrativas e clínicas. A integração desses subsistemas forma o Prontuário Eletrônico do Paciente (PEP). O InCor é um dos seis Institutos que compõem o Hospital das Clínicas da Universidade de São Paulo. Como cada um dos Institutos possui o seu próprio sistema de informações, a troca de informações entre os Institutos é também uma questão muito relevante. Este trabalho apresenta a experiência no desenvolvimento de um Prontuário Eletrônico funcional e completo, que inclui controle de acesso, exames laboratoriais, imagens (estáticas, dinâmicas e 3D), laudos, documentos e mesmo sinais vitais de tempo real. Este artigo também discute a modelagem e implantação de um protótipo de um PEP distribuído e homogêneo. Atualmente, um volume superior a 2,5 TB de imagens DICOM já foi armazenado utilizando a arquitetura proposta. Diariamente, o PEP armazena mais de 5GB de dados e tem uma quantidade de acessos superior a 300 usuários. O sistema de armazenamento permite uma visibilidade de seis meses para acesso imediato e mais de dois anos para acesso automático utilizando uma jukebox
The Heart Institute (InCor) of São Paulo has been committed to the goal of integrating all clinical information within the institution. In the last few years, InCor has successfully created a system for transmission, archiving, retrieval, processing and visualization of Medical Images and a Hospital Information System (HIS) that stores the institution administrative and clinical information. These integrated subsystems form InCor's Electronic Patient Record (EPR). Since InCor is one of the six institutes of the University of São Paulo Medical School Hospital (HC) and each institute has its own information system, exchanging information among the institutes is also a very important issue. This work describes the experience in the effort to develop a functional and comprehensive EPR, which includes access control, lab exams, images (static, dynamic and 3D), clinical reports, documents and even real-time vital signals. This paper addresses also the design and prototype for integration of distributed and heterogeneous EPR. Currently, more than 2.5 TB of DICOM images, have been stored using the proposed architecture. The EPR stores more than 5 GB/day of data and presents more than 300 hits per day. The proposed storage subsystem allow six months of visibility for rapid retrieval (online mode) and more than two years for automatic retrieval using the jukebox
Assuntos
Controle de Formulários e Registros/tendências , Controle de Formulários e Registros , Sistemas Computadorizados de Registros Médicos/organização & administração , Sistemas Computadorizados de Registros Médicos/tendências , Redes de Comunicação de Computadores/tendências , Sistemas de Informação Hospitalar/organização & administração , Sistemas de Informação Hospitalar/tendênciasRESUMO
A 33 years old woman was admitted to the hospital after four days with cough, dyspnea, orthopnea and hemoptysis. Blood pressure was 170/90 mmHg, pulse was 112 and temperature was normal. She had cyanosis and a left ventricular gallop, without heart murmurs. A chest radiograph revealed pulmonary edema and echocardiogram showed a global left ventricular systolic disfunction. Oxygen and furosemide were started, but cardiopulmonary collapse ensued. The patient was supported with mechanical ventilation and treated with inotropic drugs. A right sided cardiac catheterization showed pulmonary wedge pressure of 18 mmHg and a cardiac index of 3 l/min/m2. The levels of creatinine and urea nitrogen were elevated and a urine protein was 97 mg/dl. Coagulation tests were normal except by a positive lupic anticoagulant. Markers of connective tissue diseases or vasculitis were negatives. The clinical evolution suggested that a catastrophic antiphospholipid syndrome was ongoing. Intravenous corticoids, gammaglobulin and cyclophosphamide were administered with transient improvement. On her fourth day of treatment, the patient presented sudden pulmonary bleeding and embolism. A plasmapheresis was performed with improvement of renal, cardiac and pulmonary function. After this episode, the patient has been treated with prednisone and oral anticoagulants treatment for the last two years, without further clinical events.
Assuntos
Humanos , Feminino , Adulto , Débito Cardíaco Elevado/etiologia , Síndrome Antifosfolipídica/complicações , Doença Aguda , Doença Catastrófica , Débito Cardíaco Elevado/tratamento farmacológico , Inibidor de Coagulação do Lúpus/sangue , Síndrome Antifosfolipídica/tratamento farmacológicoRESUMO
OBJECTIVE: To estimate the frequency of different forms of sexual violence and its association with mental health problems, such as depressive symptoms, suicidal ideation and attempt, and alcohol and drug use. MATERIAL AND METHODS: From February to March 1998, a cross-sectional study was conducted among 345 women attending a healthcare center in Mexico City. All women were living with a partner/spouse at the time of the study. The proportions of three different types of sex life were obtained and compared with the chi-squared test. RESULTS: Nineteen per cent of women reported that they had been sexually fondled against their will at least once in their lifetime, 11% had been raped, and 5% had been forced to touch the sex organs of another person against their will. One in every five women reported that they had experienced sexual violence in the context of an intimate relationship. An association was found between some forms of sexual violence and depression, suicidal ideation, suicide attempts, and use of psychoactive drugs. CONCLUSIONS: Sexual violence is a severe public health problem that requires implementing specific programs to sensitize and train healthcare providers to prevent it.
Assuntos
Depressão/epidemiologia , Delitos Sexuais/estatística & dados numéricos , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Violência/estatística & dados numéricos , Adolescente , Adulto , Estudos Transversais , Depressão/etiologia , Feminino , Serviços de Saúde/estatística & dados numéricos , Humanos , México/epidemiologia , Delitos Sexuais/psicologia , Transtornos Relacionados ao Uso de Substâncias/etiologia , Violência/psicologiaAssuntos
Intoxicação Alcoólica/complicações , Aneurisma Intracraniano/complicações , Hemorragia Subaracnóidea/complicações , Inconsciência/etiologia , Edema Encefálico/diagnóstico por imagem , Edema Encefálico/etiologia , Circulação Cerebrovascular , Humanos , Aneurisma Intracraniano/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Hemorragia Subaracnóidea/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Ultrassonografia Doppler Transcraniana , Inconsciência/diagnóstico por imagemRESUMO
Several functional imaging studies have reported abnormalities of the orbitofrontal and anterior cingulate cortices, striatum and thalamus in obsessive-compulsive disorder (OCD). These studies have often been limited by small patient samples and image analysis methods that rely on region-of-interest (ROI) approaches. We have assessed resting regional cerebral blood flow with 99mTc-ECD SPECT in 26 unmedicated OCD patients and 22 healthy control subjects using the voxel-based Statistical Parametric Mapping method for data analysis. We found a significantly reduced ECD uptake in OCD patients relative to the control subjects in the right lateral orbitofrontal cortex, and in the left dorsal anterior cingulate cortex (P<0.001 two-tailed, uncorrected for multiple comparisons). There were significant positive correlations in the OCD group between the ECD uptake in the left lateral orbitofrontal cortex and ratings for obsessive-compulsive symptoms (OCS), and between the ECD uptake in the right medial orbitofrontal cortex and the ratings for both OCS and depressive symptoms. There were also unpredicted significant ECD uptake increases in the cerebellum in OCD patients, as well as a negative correlation between posterior cingulate ECD uptake and OCS severity (P<0.05, corrected for multiple testing). These results implicate specific subregions of the orbitofrontal and anterior cingulate cortices in the pathophysiology of OCD, as well as suggesting the involvement of other areas not usually included in ROI-based imaging studies. With the incorporation of voxel-based methods and the use of large patient samples, rCBF-SPECT studies may continue to provide valuable information about the functional anatomy of OCD.
Assuntos
Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Transtorno Obsessivo-Compulsivo/diagnóstico , Tomografia Computadorizada de Emissão de Fóton Único , Adulto , Feminino , Humanos , Masculino , Fluxo Sanguíneo Regional/fisiologiaRESUMO
The association of renal failure with catastrophic antiphospholipid syndrome has been reported in the context of microvascular occlusions and/or malignant hypertension. We describe a 36-year-old woman who died of multiorgan failure with the laboratory, clinical and histopathological characteristics of catastrophic antiphospholipid syndrome associated with a crescentic glomerulonephritis and renal failure.
Assuntos
Síndrome Antifosfolipídica/complicações , Glomerulonefrite/complicações , Adulto , Anticorpos Antifosfolipídeos/sangue , Síndrome Antifosfolipídica/sangue , Síndrome Antifosfolipídica/patologia , Doença Catastrófica , Evolução Fatal , Feminino , Glomerulonefrite/sangue , Glomerulonefrite/patologia , Humanos , Glomérulos Renais/patologia , Insuficiência Renal/etiologia , Insuficiência Renal/patologiaRESUMO
Chicken mortality was studied in 24 randomly selected smallholder flocks in one village in Yucatan, Mexico between July and December 1993. Each family received a package of 10 to 12 chicks of 3 weeks of age. Approximately half of the chicks were purebred and the remainder were crosses produced by mating exotic with local breeds. All smallholders were visited twice a week. Feeding and management (except vaccination and medication) were left to smallholders. Data were processed by Chi-square, Mantel-Haenzel test and survival analysis. Before reaching 140 days of age 43.2% of the birds died. The highest mortality was observed during the 113 to 140 days of age period and the lowest was in the period between 22 and 56 days of age. Of all birds, 10.5% died from coccidiosis and 7.6% from Marek's disease. Of the risk factors investigated only medication and genotype showed significant effects on mortality. The effect of genotype was significant up to 112 days of age (P < 0.05). Crossbred birds lived longer than purebred; independently, medicated birds lived longer than non-medicated birds.
Assuntos
Criação de Animais Domésticos/métodos , Cruzamento , Galinhas/genética , Doenças das Aves Domésticas/mortalidade , Animais , Coccidiose/epidemiologia , Coccidiose/mortalidade , Coccidiose/veterinária , Feminino , Genótipo , Masculino , Doença de Marek/epidemiologia , Doença de Marek/mortalidade , México/epidemiologia , Doenças das Aves Domésticas/epidemiologia , Fatores de Risco , Estatística como Assunto , Taxa de SobrevidaRESUMO
There has been increasing interest in the storage and retrieval of medical images in hospitals and clinics here in Brazil and elsewhere. At the Heart Institute of São Paulo, with thousands of image-based procedures performed each month, the pursuit of optimal transmission and storage methods for digital images is a major concern. The use of data-compression techniques can reduce the enormous amount of imaging data to be stored or transmitted across a computer network, so that the efficiency of the computing system is preserved. The techniques for image compression can be categorized as "lossless" or "lossy," with "lossy" techniques being those in which some, supposedly irrelevant information is lost. Lossy techniques are much more efficient than lossless ones, achieving data-compression ratios as high as 100:1.
Assuntos
Redes de Comunicação de Computadores , Apresentação de Dados , Sistemas de Informação em Radiologia/instrumentação , Algoritmos , Brasil , Sistemas Computacionais , Imagem do Acúmulo Cardíaco de Comporta , Humanos , Controle de QualidadeRESUMO
Propõe-se uma técnica verdadeiramente 3D para a classificação de elementos de imagens médicas baseado em vetor de atributos, levando-se em conta a conectividade de forma competitiva. O valor da conectividade reflete-se - no sentido "fuzzy" - simultaneamente a afinidade do voxel ao objeto considerando-se o vetor de atributos, e a conectividade espacial do mesmo à região inicial fornecida pelo usuário. As vantagens desta abordagem são: a) segmentação verdadeiramente n-dimensional, exigindo mínima interação com o usuário; b) independência do órgão ou da modalidade de imagem, uma vez que o sistema depreende as características estatísticas das classes pela amostra; c) assegura a conectividade espacial; d) permite segmentação competitiva entre diversos objetos. A maior limitação é assumir que o vetor de atributos para um dado objeto tem distribuição normal multivariada. Alguns resultados são mostrados em imagens de Ressonância Magnética do coração.
Assuntos
Coração , Imageamento por Ressonância Magnética/métodos , Lógica Fuzzy , Processamento de Imagem Assistida por Computador , Funções VerossimilhançaRESUMO
WWW can be a helpful tool for PACS and HIS data retrieval and presentation. The use of gateways to access both text and hypermedia databases (images and video) enables fetched data to be presented in virtually any computer system. WWW browsers provide a very friendly interface and require little training to operate. This paper presents a prototype that uses a SQL gateway for accessing relational patient databases. The dataset used here include text data from reports of diagnostic procedures as well as pointers to the corresponding images. Images can be displayed by the browsers' viewers.
Assuntos
Redes de Comunicação de Computadores , Registro Médico Coordenado , Sistemas Computadorizados de Registros Médicos , Sistemas Computacionais , Sistemas de Informação Hospitalar , Humanos , Sistemas de Informação em Radiologia , Integração de SistemasRESUMO
With the new technologies available today, more complex and useful Hospital Information Systems (HIS) can be designed and implemented. These new technologies have allowed that information from different sources and nature such as documents, images and signals be integrated within a single environment. Open standards, reliable networks, powerful hardware and software and lower prices are among the issues that make all this possible. One of the main issues is what to do with old systems that do not adhere to this new HIS concept. At the Heart Institute (InCor), a decision was made towards starting developing a new system called I3S. This paper gives a brief description of that system.