Investigation of VEGF gene polymorphism rs35569394 in endometriosis
Conclusion: In the present study, the frequency of the VEGF gene polymorphism rs35569394 is similar between cases and control. This genetic variant is not associated with endometriosis in the investigated population.RESUMO Introdu ção: A endometriose é uma condição ginecológica crônica caracterizada pela presença de tecido endometrial em sítios extrauterinos. Seus sintomas incluem dismenorreia, dispareunia, dor pélvica crônica, infertilidade, disúria e disquezia. Diversos estudos têm relacionado os polimorfismos no gene vascular endothelial growth factor (VEGF) como um fator para o desenvolvimento da endometr...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - January 10, 2019 Category: Pathology Source Type: research

Evaluation of nonconformities related to sanitary regulations applied to clinical laboratories in public hospital in the city of Rio de Janeiro-RJ from November 2016 to November 2017
ABSTRACT The study presents the main nonconformities related to the sanitary regulations found in clinical laboratory analysis (CLA) attached to a public hospital in the city of Rio de Janeiro (RJ) from November 2016 to November 2017. The evaluation of the nonconformities related to sanitary conditions is fundamental to ensure the goals in improving quality control, increasing the reliability of the results generated and reducing health risks. Through the evaluation of 20 federal and municipal public health laboratories, it was possible to analyze the main sanitary nonconformities in the different laboratories phases (pre-...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - January 10, 2019 Category: Pathology Source Type: research

Would carcinogenesis have a synergistic relatioship with bacteria and virus?
(Source: Jornal Brasileiro de Patologia e Medicina Laboratorial)
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - January 10, 2019 Category: Pathology Source Type: research

Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
We present a case of a paediatric cystic nephroma with an unreported DICER1 mutation and explore the differential diagnosis mainly with cystic partially differentiated nephroblastoma.RESUMO Nefroma qu ístico pediátrico é uma neoplasia de patogênese incerta caracterizada por uma arquitetura multilocular, que ocorre maioritariamente em crianças. Alguns casos podem ser esporádicos e outros podem apresentar associação familiar, juntamente com outras neoplasias, constituindo a síndrome DICER1 . Apresentamos o caso de um nefroma quístico pediátrico com uma mutação do gene DICER1 não reportada na literatura e explor...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
We describe a family with this disease, focusing on its clinical aspects and microscopic hair characteristics. The patient was a 10-year-old female with history of hypotrichosis. In addition to diffuse alopecia, there was brittle hair, with ruptures in the hair shaft at different levels. The hair had a nodular appearance at naked eye. Other family members had the same symptoms, what indicates an autosomal dominant pattern of inheritance. Microscopic analysis revealed capillary fibers with areas of elliptical nodular appearance interspersed with regions of dystrophic constriction.RESUMO A monil étrix é uma condição genÃ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Quantitation of muscle pathology abnormalities in 18 patients with mitochondrial disorders
CONCLUSION: Pathologic events, groupe d in ascending order of frequency, were RRFs, SDH+ fibers, COX- fibers, and COMBO+ fibers. These data emphasize the importance of the COMBO technique in revealing occult COX deficiency in muscle fibers.RESUMO INTRODU ÇÃO: Desordens mitocondriais são usualmente caracterizadas por: 1. acúmulo de mitocôndria nas fibras musculares que aparecem como fibras vermelhas rasgadas (FVR) ou azuis rasgadas quando coradas, respectivamente, pelo tricrômio modificado de Gomori ou pelo succinato desidrogenase (SDH+); 2. au sência de atividade da citocromo c oxidase (COX), originando fibras COX ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Evaluation of the accuracy of frozen section in different anatomical sites
CONCLUSION: The frozen section accuracy of 96.3% found in our study is similar to specialized literature and does not seem to depend on the tissue analyzed.RESUMO INTRODU ÇÃO: O exame intraoperatório por congelação (EIC) visa avaliar histológica e intraoperatoriamente um pequeno fragmento de tecido ou órgão lesado no qual haja dúvida diagnóstica. Entre as indicações do EIC estão a determinação da natureza e a extensão da lesão, com consequente difere nciação entre lesões benignas e malignas, além da análise das margens cirúrgicas. OBJETIVOS: Avaliar a acurácia do EIC em múltiplos órgãos e anali...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

HER2-expressing breast tumors are associated with breast cancer stem-cell phenotype CD44+/CD24-
CONCLUSION: CD44+/CD24- phenotype was correlated with molecular subtypes of breast cancer. The highest expression of CD44+/CD24- phenotype was reported in patients with HER2+ disease, a molecular subtype associated with more aggressive behavior and worse prognosis.RESUMO INTRODU ÇÃO: De acordo com a teoria das células-tronco tumorais, os tumores são originários de uma pequena população de células-tronco que perdem o mecanismo de autorregulação e começam a se diferenciar e proliferar indefinidamente. O fenótipo CD44+/CD24- pode ser considerado um marcador de cél ulas-tronco tumorais no câncer de mama. OBJETI...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Sample transport validation: experience of a medium-sized laboratory
CONCLUSION: In the first month, the pre-established temperatures (blood: 10 °C to 22°C/urine-feces: 2°C to 8°C) were not reached until arrival at the central laboratory, and the amount of ice in each bag was gradually increased, daily, until reaching the ideal temperature, in all collection units and the central. Transport routes were changed three times in the most dis tant units. Materials that arrived outside specifications were processed with restrictions, and results were evaluated by the professional responsible for the release. After these modifications, the temperature records of the biological materials were i...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Yellow fever: laboratorial diagnosis and clinical manifestations
ABSTRACT Yellow fever is an infectious disease of acute evolution, initially non-contagious, transmitted by a ribonucleic acid (RNA) virus that belongs to the Flaviviridae family. In the period from December 2016 until March 17, 2017, 1, 561 suspected cases of wild yellow fever were reported to the Ministry of Health in Brazil. Among these cases, 850 (54.8%) remain under investigation, 448 (28.7%) were confirmed and 263 (16.9%) were discarded. Out of the total cases reported, 264 died, 144 (54.5%) were confirmed for the disease, 110 (41.7%) were investigated and 10 (3.8%) were discarded. The case fatality rate among confir...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Molecular association of pathogenicity and resistance to multiple antimicrobials in Acinetobacter baumannii strains recovered from patients with diverse infectious diseases
CONCLUSION: There was a possible correlation between gentamicin resistant samples and those that were positive for the ompA gene. The csuE gene correlated positively with ISAba1.RESUMO INTRODU ÇÃO: O sucesso das infecções por Acinetobacter baumannii pode ser atribuído a seus vários fatores de virulência e a mecanismos de resistência a antimicrobianos. OBJETIVO: Avaliar a presença e a correlação entre diferentes fatores de resistência e virulência em amostras clínicas de A. baumannii. MÉTODOS: Estudo conduzido em um hospital universitário em Belo Horizonte, Minas Gerais, Brasil. A confirmação do complex...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Evaluation of acute toxicity of β-lapachone associated with chitosan as a cytoprotective agent
CONCLUSION: The decrease in β -LAP toxicity after conjugation may be related to the hepatoprotective property of CS.RESUMO INTRODU ÇÃO: A β -lapachona ( β -LAP), um potente agente antitumoral, tem uso terap êutico limitado devido a sua baixa solubilidade e elevada toxicidade. Uma possível estratégia para contornar esses inconvenientes pode ser a utilização de adjuvantes como a quitosana (QS), um polissacarídeo catiônico com propriedades biológicas, como biocompatibilidade e biodegradabilidade. OBJETIVO: Avaliar a ação adjuvante da QS como citoprotetor associada à β -LAP por meio de estudos de toxicidade ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Aspartate aminotransferase to platelet ratio index (APRI) for differentiation of primary and secondary infection by dengue virus
CONCLUSION: APRI seems to be a powerful tool for early identification of DENV secondary infection cases in health centers.RESUMO INTRODU ÇÃO: A infecção pelo vírus da dengue (DENV) é considerada um grande problema de saúde pública nos países tropicais. A indisponibilidade de testes sorológicos em centros de saúde pública pode afetar negativamente o prognóstico do paciente. OBJETIVO: Este estudo teve como objetivo avalia r a precisão do volume médio de plaquetas (MPV) e o índice da relação de aspartato aminotransferase (AST) sobre plaquetas (APRI) como marcadores laboratoriais de infecção por DENV, que...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Is muscle biopsy still necessary for the diagnosis of mitochondrial disease?
(Source: Jornal Brasileiro de Patologia e Medicina Laboratorial)
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 12, 2018 Category: Pathology Source Type: research

Thrombotic thrombocytopenic purpura: a case report
ABSTRACT Thrombocytopenic thrombotic purpura (TTP) is a severe hemorrhagic syndrome characterized by thrombocytopenia, microangiopathic hemolytic anemia and microvascular occlusion, besides the associated symptoms that may or may not be present: fever, neurological and renal impairment. The pathophysiology involves the autoimmune or genetic deficiency of a metalloproteinases activity (ADAMTS-13), responsible for the von Willebrand Factor cleavage. The treatment is based on plasmapheresis; and in acute or recurrent cases, corticosteroids and immunosuppressants are associated. In this article, we will discuss a case report a...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - October 5, 2018 Category: Pathology Source Type: research