1000 resultados para Doenças Congênitas, Hereditárias e Neonatais e Anormalidades
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CONTEXTO: Vários estudos de perda de heterozigozidade na região 9p21-p22, que abriga os genes supressores tumorais CDKN2a/p16INK4a, p19ARF e p15INK4b, têm sido realizados em uma ampla série de tumores humanos, incluindo os melanomas familiares. Perdas e ganhos em outras regiões do cromossomo 9 também têm sido observados com freqüência e podem indicar mecanismos adicionais no processo de tumorigênese dos carcinomas basocelulares da pele. OBJETIVO: Investigar o equilíbrio alélico existente na região 9p21-p22 em carcinomas basocelulares. TIPO DE ESTUDO: Análise molecular de marcadores de microssatélites em tumores e controles. LOCAL: Dois serviços de dermatologia de atendimento terciário em universidades públicas de São Paulo e o Laboratório de Genética Molecular do Câncer da Universidade Estadual de Campinas (UNICAMP), Brasil. PARTICIPANTES: Examinamos 13 casos benignos, incluindo 4 queratoses solares, 3 queratoacantomas, 3 nevos melanocíticos, 2 doenças de Bowen e 1 neurofibroma cutâneo, além de 58 tumores malignos da pele: 14 de células escamosas, 40 carcinomas basocelulares e 4 melanomas; em pacientes consecutivamente encaminhados à clínica de Dermatologia da Unicamp e que concordaram em participar do estudo. VARIÁVEIS ESTUDADAS: O tumor principal e uma porção normal de pele não-adjacente foram removidos cirurgicamente de pacientes que consecutivamente procuraram os ambulatórios de dermatologia da Universidade Estadual de Campinas (UNICAMP) e da Universidade Estadual de São Paulo (Unesp), São Paulo, por causa de lesões cutâneas. Extraímos DNA tanto de tecido tumoral como do correspondente tecido normal de cada paciente. Para amplificar regiões de repetição polimórfica de microssatélites do cromossomo 9, foram utilizados quatro pares de primers, sendo dois deles destinados à região 9p21-p22. RESULTADOS: Identificamos oito casos (20%) de desequilíbrio alélico entre os carcinomas basocelulares, sendo dois casos de perda de heterozigozidade e seis casos de instabilidade de microssatélite na região 9p21-p22. Outros marcadores também mostravam anormalidades em três destes tumores, enquanto nenhuma alteração foi detectada entre os casos benignos e nos outros tumores malignos. CONCLUSÃO: Esta dependência fenotípica sugere que existem diferenças importantes no comportamento das formas mais comuns de tumores cutâneos não-melanocíticos em relação à sua tendência para instabilidade de microssatélite no cromossomo 9. Considerando-se que os genes CDKN2a/p16INK4a, p19ARF e p15INK4b não parecem responsáveis pelas anormalidades observadas, outros genes em 9p21-p22 podem estar envolvidos na etiopatogenia e na progressão dos carcinomas basocelulares.
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A síndrome de abstinência alcoólica é um quadro agudo, caracterizado por um conjunto de sinais e sintomas autolimitados, com gravidade variada, secundário à interrupção total ou parcial do consumo de álcool, podendo ser associado a inúmeros problemas clínicos e/ou outros transtornos psiquiátricos. O objetivo deste artigo é rever as principais complicações psiquiátricas secundárias à síndrome de abstinência alcoólica, como convulsões e delirium tremens, bem como algumas outras condições psiquiátricas associadas à dependência de álcool, como as síndromes de Wernicke Korsakoff e de Marchiava Bignami. Pretende-se, com isso, auxiliar no diagnóstico precoce e tratamento adequado, minimizando assim a morbidade e a mortalidade associadas a tais complicações.
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Com o objetivo de determinar a provável causa do aparecimento de anormalidades em um campo de produção de girassol (Helianthus annuus L.), uma vez que a possibilidade de doenças parasíticas fora eliminada, realizou-se um ensaio de diagnose por subtração, no qual foram omitidos os nutrientes: N, K, S, B, Mo, Cu, Mn e Zn. Foi empregado solo da lavoura onde o problema havia sido detectado, um Latossolo Vermelho-Escuro fase arenosa. Nos tratamentos -N, -K, -S e -B foram observados sintomas de deficiência, nos quais, exceto no tratamento -S, ocorreu também significativa redução no peso da matéria seca total das plantas em relação ao tratamento completo. Não se observou exata reprodução da sintomatologia existente no campo; no entanto, deve-se considerar que, naquelas condições, havia uma interação entre os quatro elementos, bem como efeito das condições ambientais.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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The respiratory tract of birds shows anatomical and physiological characteristics that facilitates the occurrence of disease, mainly those of microbiological origin. This article analyzes the frequency of respiratory diseases in domestic and wild birds treated during the years 2005-2006 at the Ornitopathology Laboratory of the Veterinary Hospital, Faculty of Veterinary Medicine and Zootecnics, São Paulo State University (FMVZUNESP). Diagnoses were obtained through clinical and radiographic exams as well as haemogram, microbiological culture, parasitological tests and necropsy, being septicemic processes, aspergillosis and mycoplasmosis the most diagnosed diseases. No zoonotic threats were identified, so the entities were described as of low-impact on public health. However, the above mentioned agents can provoke death of birds and difficult for treating and eradication as well.
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Parasitic diseases in humans, transmitted by insects, affect about 500 million people living mainly in countries of low economic power. The control of these diseases is difficult to carry out, mianly due to social and political problems, enhanced by the capacity of these organisms to develop resistance to insecticides used to for their destruction. Some recent advances in the area of insect immunology have open the possibility for abetter epidemiological control of these diseases. The immune system of these insects, as well as that of other organisms, have the ability to recognize the infecting parasites and liberate a series of reactions which stop the infection. These reactions involve the circulating cells (hemocytes) against the parasite. These cells have the ability of phagocytize and liberate the production of various humoral factors, neutralizing the infection. Some promising results, obtained by the study of the immune system of malaria-transmitting insects, the sleeping disease, and dengue, are an example of this new sanitary strategy.
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Purpose: to evaluate the incidence and types of major congenital malformations (MCM) in liveborn children conceived by intracytoplasmic sperm injection (ICSI). Methods: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1%) through questionnaire and 270 (51.9%) through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the χ 2 test (level of significance p<0.05). Results: of the 520 children, 15 presented MCM, resulting in an incidence of 2.9%. There was no difference in relation to the control group (p>0.05), which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated), corresponding to 40% of the total. The other types of MCM were: renal (three), neural tube (two), skull (one), cleft lip (one), genital (one), Down syndrome (associated with cardiac malformations) (two), and musculoskeletal (one). Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. Conclusion: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9%) near to the expected for the general population (2.6%). However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.
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Foodborne and waterborne diseases are spread by the consumption of food or water contaminated with bacteria and/or their toxins, viruses, parasites or chemicals. The aim of the research reported here was to establish the spectrum of etiologic agents of foodborne outbreaks at 15 tourist resorts in three geographic regions of the State of Sao Paulo (Brazil). The study was based on the cases reported to the Epidemic Surveillance Center (CVE) of the Public Health Authority of the State of São Paulo (SES), from 2002 to 2005. The tourist centers were chosen at random in three regions of the state (Capital, Interior and Coast) and offered the following attractions: events, agribusiness, cultural history, shopping, town center, gastronomy, health and leisure, sun and sea. Among the bacteria, the results showed that Salmonella spp. were most frequently associated with outbreaks, followed by Shigella spp., enterotoxigenic Escherichia coli, Staphylococcus aureus, Clostridium perfringens, Bacillus cereus and Campylobacter spp. Viruses (Rotavirus and Hepatitis A) played a part in many of the cases, while the frequency of parasites and worm infestations was low in the foodborne disease outbreaks at these resorts. The mixed foods (rice, beans, liver, potatoes, barbecue, juice), fish and poultry were the three commonest vehicles implicated in the outbreaks.
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The aim of this study was to analyze the risk factors related to the cardiovascular diseases (CVRF) in elderly type 2 diabetics. A cross-sectional observational study was carried out on 100 elderly patients attending the Rehabilitation Center of Araraquara (CRRA), São Paulo State, Brazil, from March to December, 2004. The majority were married, female, white, with a low income and low educational level. Regarding habits and style of life, the subjects had an adequate diet, were sedentary, non-smoking and non-drinking. In the population of 100, 42% were overweight, 42% obese, 71% had above-normal waist measurements and 84% high waist-to-hip ratios. Concerning the CVRF, it was observed that more than half had hypertension, hypercholesterolaemia and hypertriglyceridaemia. 84% had high values of LDL-cholesterol and 59% HDL-cholesterol levels below the reference values, 78% high levels of fasting glycemia, 76% glycohemoglobin and 57% fibrinogen and thus subject to cardiovascular risk. The results showed a high frequency of cardiovascular risk factors, differing according to sex and the age.
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Pasteurella multocida and Mannheimia haemolytica (P. haemolytica) are associated with ovine respiratory diseases. With the purpose of observe the susceptibility in vitro of these organisms against antimicrobials, were collected samples of nasopharingeal (n=180) and oropharingeal (n=82) from ovines healthy and with respiratory disease. Among the antimicrobials tested, the sensibility was greater for enrofloxacin (100%) and florfenicol (100%), for both bacteria. The greater resistance indices for M. haemolytica and P. multocida were observed with tetracyclin (15.64% and 17.65% respectively) and penicillin (1.82% and 4.2%).
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The respiratory tract of birds shows anatomical and physiological characteristics that facilitates the occurrence of disease, mainly those of microbiological origin. This article analyzes the frequency of respiratory diseases in domestic and wild birds treated during the years 2005-2006 at the Ornitopathology Laboratory of the Veterinary Hospital, Faculty of Veterinary Medicine and Zootecnics, São Paulo State University (FMVZ-UNESP). Diagnoses were obtained through clinical and radiographic exams as well as haemogram, microbiological culture, parasitological tests and necropsy, being septicemic processes, aspergillosis and mycoplasmosis the most diagnosed diseases. No zoonotic threats were identified, so the entities were described as of low-impact on public health. However, the above mentioned agents can provoke death of birds and difficult for treating and eradication as well.
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Objective: To evaluate the results of the kangaroo mother method in Brazil. Methods: A prospective cohort study comparing 16 units that have or do not have the second phase of the kangaroo mother method: eight were national centers of excellence for the kangaroo mother method (study group) and eight were part of the Brazilian Neonatal Research Network (control group). A total of 985 newborn infants with birth weights of 500 to 1,749 g were enrolled. Multivariate analyses employedmultiple linear regression and Poisson regression with robust adjustment. Results: The adjusted analysis (controlled for birth weight, gestational age, Score for Neonatal Acute Physiology Perinatal Extension II, Neonatal Therapeutic Intervention Scoring System, and maternal age and educational level) demonstrated that mean length of hospital stay (p = 0.14) and intercurrent clinical conditions in the intermediate or kangaroo unit were equal for both groups. Weight (p = 0.012), length (p = 0.039) and head circumference (p = 0.006) at 36 weeks' corrected gestational age were all lower at the kangaroo units. The kangaroo units exhibited superior performance in relation to exclusive breastfeeding at discharge (69.2 vs. 23.8%, p=0.022). Conclusions: The evidence suggests that the humanization strategy adopted by the Brazilian Ministry of Health is a safe alternative to conventional treatment and a good strategy for promoting breastfeeding. Copyright © 2008 by Sociedade Brasileira de Pediatria.