976 resultados para prenatal diagnosis


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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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São descritos o cariótipo e a localização das regiões organizadoras de nucléolo (Ag-NOR) de uma amostra de Trichomycterus diabolus, coletada no córrego Hortelã (Botucatu, São Paulo, Brasil). A espécie apresentou 2n=56 cromossomos (42 metacêntricos, 12 submetacêntricos e 2 subtelocêntricos) e as regiões organizadoras de nucléolo localizadas próximas ao centrômero, no braço longo do maior par metacêntrico. A ocorrência de 2n=56 cromossomos em Trichomycterus diabolus é uma característica interessante, uma vez que, até o momento, todas as espécies cis-Andinas cariotipadas apresentaram 2n=54 cromossomos, enquanto que quase todas as espécies trans-Andinas apresentaram números diplóides diferentes. É discutida a possível origem desta inesperada estrutura cariotípica.

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O diagnóstico histopatológico do líquen plano bucal não é fácil, pois alguns casos de displasia epitelial podem apresentar características bastante semelhantes às do líquen plano. OBJETIVO: Comparar as alterações celulares sugestivas de malignidade presentes no líquen plano bucal com as da displasia epitelial. MATERIAL E MÉTODOS: Cortes histológicos de líquen plano bucal e displasia, corados com hematoxilina-eosina, foram analisados por meio da microscopia de luz. RESULTADOS: A análise de variância (alfa=5%) revelou haver diferença estatisticamente significante entre o número médio de alterações celulares no líquen plano bucal (5,83±1,61) e na displasia epitelial (4,46±1,26). O teste de qui-quadrado não mostrou diferença estatisticamente significante entre o líquen plano bucal e a displasia epitelial em relação às seguintes alterações celulares: aumento da relação núcleo/citoplasma, hipercromatismo nuclear, distribuição irregular da cromatina e núcleos aumentados (p>0,05). CONCLUSÃO: Algumas alterações celulares sugestivas de malignidade presentes no líquen plano bucal também podem ser encontradas na displasia epitelial, dificultando o seu diagnóstico e, consequentemente enfatizando a importância do acompanhamento a longo prazo dos pacientes com a doença.

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Cutaneous biopsies (n = 94) obtained from 88 patients with American tegumentary leishmaniasis were studied by conventional and immunohistochemical techniques. Specimens were distributed as active lesions of cutaneous leishmaniasis (n = 53) (Group I), cicatricial lesions of cutaneous leishmaniasis (n = 35) (Group II) and suggestive scars of healed mucosal leishmaniasis patients (n = 6) (Group III). In addition, active cutaneous lesions of other etiology (n = 24) (Group C1) and cutaneous scars not related to leishmaniasis (n = 10) (Group C2) were also included in the protocol. Amastigotes in Group I biopsies were detected by routine histopathological exam (30.2%), imprint (28.2%), culture (43.4%), immunofluorescence (41.4%) and immunoperoxidase (58.5%) techniques; and by the five methods together (79.3%). In Group II, 5.7% of cultures were positive. Leishmanial antigen was also seen in the cytoplasm of macrophages and giant cells (cellular pattern), vessel walls (vascular pattern) and dermal nerves (neural pattern). Positive reaction was detected in 49 (92.5%), 20 (57%) and 4 (67%) biopsies of Groups I, II and III, respectively. Antigen persistency in cicatricial tissue may be related to immunoprotection or, on the contrary, to the development of late lesions. We suggest that the cellular, vascular and neural patterns could be applied in the immunodiagnosis of active and cicatricial lesions in which leishmaniasis is suspected.

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Infecções oportunistas do trato gastrointestinal constituem ameaça à população crescente de portadores de imunossupressão. O comprometimento do estômago por Cryptosporidium é incomum. Quando identificado no exame histopatológico da mucosa gástrica, é mandatória a investigação do estado imunológico do hospedeiro. São apresentados os dados clinicopatológicos e endoscópicos de uma paciente de 64 anos com gastrite erosiva associada à infecção por Cryptosporidium. O encontro deste agente oportunista no exame histopatológico da mucosa gástrica foi fundamental para esclarecer a doença de base da paciente, que era a síndrome da imunodeficiência adquirida.

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Alterações anatômicas e fisiológicas da gravidez predispõem gestantes a infecções do trato urinário (ITU). O objetivo deste estudo foi identificar a acurácia do exame de urina simples para diagnóstico de ITU em gestantes de baixo risco. Fez-se uso do estudo de desempenho de teste diagnóstico realizado em Botucatu, SP, com 230 gestantes, entre 2006 e 2008. Os resultados mostram que a prevalência de ITU foi de 10%. A sensibilidade foi 95,6%, especificidade 63,3% e acurácia 66,5% do exame de urina simples, em relação ao diagnóstico de ITU. A análise dos valores preditivos positivo e negativo (VPP e VPN) mostrou que, na vigência de exame de urina simples normal, a chance de haver ITU foi pequena (VPN 99,2%). Frente ao resultado alterado desse exame, a probabilidade de haver ITU foi baixa (VPP 22,4%). Conclui-se que a acurácia do exame de urina simples como meio diagnóstico de ITU foi baixa, sendo indispensável a realização de urocultura para o diagnóstico.

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Descreve-se caso clínico de paciente feminina adulta, portadora de doença de Parkinson em uso de amantadina que desenvolveu extenso quadro de livedo reticular nos membros e abdome após o início do medicamento. Discutem-se a semiotécnica diagnóstica do livedo reticular e seus diferenciais. Os autores salientam que a etiologia medicamentosa deva ser considerada no diagnóstico dos livedos reticulares.

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Intestinal parasitic infections are currently a source of concern for Public Health agencies in developing and developed countries. Since three ovum-and-parasite stool examinations have been demonstrated to provide sensitive results, we designed a practical and economical kit (TF-Test) that is now commercially available (Immunoassay Com. Ind. Ltda., S (a) over tildeo Paulo, Brazil). This kit allows the separate collection of three fecal specimens into a preservative solution. The specimens are then pooled, double-filtered, and concentrated by a single rapid centrifugation process. The TF-Test was evaluated in four different laboratories in a study using 1,102 outpatients and individuals living in an endemic area for enteroparasitosis. The overall sensitivity found using the TF-Test (86.2-97.8%) was significantly higher (P<0.01) than the sensitivity of conventional techniques such as the Coprotest (NIL Comercio Exterior Ltda, São Paulo, Brazil) and the combination of Lutz/Hoffman, Faust, and Rugai techniques (De Carli, Diagnostico Laboratorial das Parasitoses Humanas. Metodos e Tecnicas, 1994), which ranged from 48.3% to 75.9%. When the above combined three specimen technique was repeated with three specimens collected on different days, its sensitivity became similar (P > 0.01) to that of the TF-Test. The kappa index values of agreement for the TF-Test were consistent (P < 0.01), being higher and ranking in a better position than conventional techniques. The high sensitivity, cost/benefit ratio, and practical aspects demonstrate that the TF-Test is suitable for individual diagnosis, epidemiological inquiries, or evaluation of chemotherapy in treated communities. (C) 2004 Wiley-Liss, Inc.

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Objective: To study the electroclinical phenotype in 5 patients with large Supernumerary marker chromosome referred as inv dup (15), in an attempt to analyze the electroclinical spectrum in order to determine if the binomial epilepsy-EEG is stereotyped enough to corroborate this challenging diagnosis.Methods: Five patients with large inv dup (15) were submitted to EEG and/or V-EEG, with a minimum duration of 2 h. Two certified neurophysiologists analyzed all EEG tracings simultaneously, blinded to clinical and molecular data. Epilepsy was characterized by detailed history and a standard questionnaire according to International League Against Epilepsy guidelines and corroborated by V-EEG findings.Results: Epilepsy started during infancy in 4 patients, in 3 with spasms. Spasms were easily controlled in one but not in others. Epilepsy evolved with generalized seizures in two patients and, generalized and focal in one. Currently, 3 patients present refractory epilepsy and two are seizure-free. In one patient, only one isolated episode suggestive of a secondary generalized tonic-clonic event occurred at the age of 12 years without recurrence. Regarding the EEG, patients had distinct features, except for two patients with very high amplitude fast activity, resembling recruiting rhythm. Despite good seizure outcome in 3 patients, EEGs remained remarkably abnormal with frequent epileptiform discharges over poorly organized background.Conclusions: Our data showed a heterogeneous electroclinical phenotype with generalized and partial epilepsy, presenting distinct degrees of severity and refractoriness.Significance: Our findings suggest that it is not possible to delineate an electroclinical phenotype in this neurogenetic syndrome. Therefore, inv dup (15) remains as a diagnostic challenge and epilepsy and EEG features are valuable only when inserted in the proper clinical context. (c) 2006 International Federation of Clinical Neurophysiology. Published by Elsevier B.V.. All rights reserved.

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A pair of primers directed to 16S-23S rDNA interspacer (ITS) was designed directed to Brucella genetic sequences in order to develop a polymerase chain reaction (PCR) putatively capable of amplifying DNA from any Brucella species. Nucleic acid extracts from whole-blood from naive dogs were spiked with decreasing amounts of Brucella canis RM6/66 DNA and the resulting solutions were tested by PCR. In addition, the ability of PCR to amplify Brucella spp. genetic sequences from naturally infected dogs was evaluated using 210 whole-blood samples of dogs from 19 kennels. The whole-blood samples collected were subjected to blood culture and PCR. Serodiagnosis was performed using the rapid slide agglutination test with and without 2-mercaptoethanol. The DNA from whole blood was extracted using proteinase-K, sodium dodecyl sulphate and cetyl trimethyl ammonium bromide followed by phenol-chloroform purification. The PCR was capable of detecting as little as 3.8 fg of Brucella DNA mixed with 450 ng of host DNA. Theoretically, 3.8 fg of Brucella DNA represents the total genomic mass of fewer than two bacterial cells. The PCR diagnostic sensitivity and specificity were 100%. From the results observed in the present study, we conclude that PCR could be used as confirmatory test for diagnosis of B. canis infection.

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Brazil is a wide country with huge contrasts. Its peculiarities can highlight environmental factors that could influence the frequencies of different cancers. The standard treatment and results achieved from several different areas of the country may not be found in others. The establishment of a national cooperative group has the potential to improve outcomes. The The Brazilian Cooperative Group on Pediatric Patients with Myelodysplastic Syndrome (BCG-MDS-PED) was first organized in January 1997 as a working group of hematologists, pediatric oncologists, pediatric-hematologists, molecular biologists and other professionals in order to study pediatric (age < 18 years) MDS. Six distinct subcommittees constituted with members from several universities: cytology, histopathology, clinical, cytogenetics, molecular biology and epidemiology. The goals of the BCG-MDS-PED were: (i) to offer support for diagnosis and orientation for treatment; (ii) educational Support for the colleagues all over the country and (iii) research on pathogenesis and new approaches for pediatric MDS patients. There are socio-economical differences among the five regions of the country. The BCG-MDS-PED believes that it is absolutely necessary to Study the clinical, cellular, molecular and epidemiological aspects of MDS, taking in account these peculiar differences among populations and regions. Since 1997, 114 pediatric cases were referred to the BCG-MDS-PED from 21 centres. Seven Brazilian states have sent cases to the group, 31 patients were referred from universities, 73 patients from pediatric oncology units (foundations) and 10 patients came from private clinics. Some of these patients have been followed up and/or treated by the physician who referred them to the BCG-MDS-PED for confirmation of the initial diagnosis. The majority of these physicians have required orientation on diagnostic and treatment issues, as well as to complete cytogenetic and molecular studies. From these 114 patients, 64 patients were confirmed as MDS. We believe that, the more numerous the MDS-studied cases, the more experienced will be the referee group on clinical and laboratory features on childhood MDS in Brazil. (C) 2002 Published by Elsevier B.V. Ltd.