Analysis of 18 bp Ins/Del at -2549 polymorphism of the vascular endothelial growth factor gene in patients with systemic lupus erythematosus
ABSTRACT Systemic lupus erythematosus (SLE) is considered an autoimmune disease characterized by the action of autoantibodies, which cause chronic inflammation in various tissues of the body. Considering the vascular endothelial growth factor (VEGF) participation in the development of inflammation, this study aimed to evaluate the frequency of the polymorphism at the -2549 position (Ins/Del 18pb, rs35569394) in patients with SLE and in healthy individuals. No statistical differences were found when comparing the allele and genotype frequencies between patients and controls, suggesting that there is no association between t...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients
We report the case of a patient with MDS whose cytogenetic analysis showed spontaneous chromatid breakage (chrb): 46,XY,add(13)(q34),chtb(15)(q24) [3]/47,XY,chtb(2)(q22),del(5)(q35),del(7)(q32),+8,del(11q)(q23),del(q22)[cp17]. He was considered a high-risk patient due to the complex karyotype and the presence of chtb. We suggest that this chromosomal abnormality may be considered as a marker of genomic instability in MDS.RESUMO A s índrome mielodisplásica (SMD) é uma desordem clonal das células-tronco hematopoiéticas caracterizada por citopenias periféricas devido à hematopoiese ineficaz e pelo aumento do risco de e...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

Laboratory diagnosis of chronic kidney disease in adults: an overview of hospitals inserted in the Portuguese National Health System
Conclusion: There is great variability among laboratories in relation to the methodology of measuring serum creatinine, albumin and total protein in the urine. There are wide variations in the release of results. Most laboratories do not follow the guidelines recommended by the KDIGO 2012. This work indicates that there is a need to develop education and alignment processes in the laboratory diagnosis of CKD in the laboratories installed in hospitals inserted in the Portuguese National Health System.RESUMO Introdu ção: O diagnóstico laboratorial de doença renal crônica (DRC) é simples e econômico e permite a detecÃ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

Pseudothrombocytopenia: incidence and strategy for resolution in clinical laboratory
Conclusion: The 2 and 3-minute times were the most effective in the resolution of pseudothrombocytopenia, however, the 2 minutes time should be preferred because it produced fewer effects on the erythrocyte membrane.RESUMO Introdu ção: A pseudotrombocitopenia constitui importante fonte de problemas pré-analíticos no laboratório clínico, por isso deve ser corretamente avaliada. Baixas contagens de plaquetas espúrias podem levar a suspeitas diagnósticas equivocadas. Objetivo: Este estudo se propôs a estudar a resoluç ão da pseudotrombocitopenia na rotina de laboratório de análises clínicas pela padronização...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

Consensus - reference ranges of vitamin D [25(OH)D] from the Brazilian medical societies. Brazilian Society of Clinical Pathology/Laboratory Medicine (SBPC/ML) and Brazilian Society of Endocrinology and Metabolism (SBEM)
Conclusion: The standardization of reference intervals is fundamental for the correct diagnosis and treatment of hypovitaminosis D.RESUMO Introdu ção: A vitamina D é considerada um pré-hormônio e apresenta papel crucial na homeostase do cálcio e, consequentemente, na saúde óssea. A maior fonte de vitamina D é a pele, em resposta à luz solar. Apenas pequenas quantidades dessa vitamina são encontradas em alguns alimentos (especialmen te peixes gordurosos), o que faz com que a disponibilidade da vitamina D na dieta seja limitada. Estudos populacionais brasileiros demonstram que a prevalência da hipovitaminose D n...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

Implementation of the ANA HEp-2 consensus guidelines in Brazilian clinical laboratories
Conclusion: The results confirm the adoption of the Brazilian Consensus recommendations by most of participating laboratories, although with variable extent. There is need for improvement in some aspects, especially those related to the quality control.RESUMO Introdu ção: A pesquisa de autoanticorpos em células HEp-2 representa uma relevante ferramenta no auxílio diagnóstico de doenças autoimunes, especialmente as reumáticas. Em virtude dos avanços metodológicos, a técnica aumentou gradativamente a sensibilidade, bem como a necessidade de padronizaçã o. Objetivo: Avaliar a implantação das recomendações do...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

Frequencies of CD39, IVS1-1, IVS1-6 and IVS1-110 mutations in beta-thalassemia carriers and their influence on hematimetric indices
Conclusion: The results showed a high frequency of the CD39 mutation in the city of Franca, and the correlations observed between the presence of CD39 mutation and the hematological alterations suggest a genotype influence on the phenotype of beta-thalassemia, which would contribute to the clinical variations of this hemoglobinopathy.RESUMO Introdu ção: A betatalassemia é causada pela síntese deficiente da cadeia ß da hemoglobina, o que leva à ocorrência das anemias crônica, microcítica e hipocrômica. Mais de 200 mutações já foram associadas a esse tipo de talassemia, mesmo que diferentes populações apresen...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

Carbapenem-resistant Acinetobacter baumannii in Brazil: susceptibility profile and diversity of oxacillinases
Conclusion: Our findings confirm the knowledge about the dissemination of the blaOXA-23 gene in Brazil and suggest the recent emergence and spread of blaOXA-24 gene, since it was identified in thr ee of the four sampled states.RESUMO Introdu ção: O complexo Acinetobacter calcoaceticus-baumannii (ABC) inclui cinco espécies, sendo A. baumannii a mais importante clinicamente por carrear muitos mecanismos de resistência aos carbapenêmicos, sobretudo as oxacilinases. Objetivos: Os objetivos deste estudo foram identificar as espécies d o complexo ABC, avaliar o perfil de suscetibilidade e investigar a presença de oxacil...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

An overview of Acinetobacter baumannii: deciphering this amazing pathogen
(Source: Jornal Brasileiro de Patologia e Medicina Laboratorial)
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - February 8, 2018 Category: Pathology Source Type: research

The role of IDH1/2 mutations in the pathogenesis of secondary glioblastomas
ABSTRACT Diffuse astrocytoma and glioblastoma (GBM) constitute a group of diffusely infiltrating astrocytic neoplasms, which more commonly arise in cerebral hemispheres of adults. The prevalence of malignant transformation of diffuse astrocytoma to anaplastic astrocytoma and GBM varies from 40% to 75% of cases in different series. Distinct genetic abnormalities are related to neoplastic progression, and the cells prone to glial neoplasm development include progenitor cells, stem cells, or differentiated cells. Primary GBM arises typically de novo, with no previous history of a lower-grade precursor lesion. Secondary GBM ev...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Glomangiopericytoma: an unusual type of nasosinusal tumor
We report the case of a 39-year-old patient with intranasal tumor of hemangiopericytoid pattern and immunohistochemistry compatible with glomangiopericytoma. We opted for external and endonasal surgical treatment, with preoperative embolization. Glomangiopericytomas are uncommon and are characterized by frequent recurrence, but metastases are rare. Generally painless, they present with unilateral nasal obstruction and/or epistaxis, with a polypoid, reddish and friable mass, and the diagnosis can be confirmed by histopathological and immunohistochemical examination.RESUMO Glomangiopericitomas s ão tumores de partes moles q...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Unusual presentation of oral actinomycosis in the tongue: case report
ABSTRACT Actinomycosis is a rare infection caused by bacteria of Actinomyces genus that can affect both soft and bone tissues; it may be associated with trauma or previous infections. This paper aims to report a clinical case of actinomycosis on the lateral border of the tongue originating from a previous trauma with the use of sclerosing substance for treatment of vascular malformation. The patient underwent debridement of necrotic tissue in the region, and the material was sent for histopathological analysis, which confirmed the diagnosis of actinomycosis. After two years of follow-up, no recurrence was detected.RESUMO A...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Pancreatic adenosquamous carcinoma, a rare entity: report of four cases
ABSTRACT Adenosquamous carcinoma of the pancreas (ASCP) is a rare variant of the pancreatic ductal adenocarcinoma (PDAC). Between 2004 and 2016, four cases of ASCP were resected at our institution; clinicopathological data were collected. All of our patients were males, aged 55-80 years. Three cases were cephalic tumors; and one, pancreatic tail tumor, measuring between 2.3 and 5.5 cm. All had neurovascular invasion and lymphatic metastasis. Two had retroperitoneal positive margins. The overall survival (OS) after surgery was three weeks-42 months. Prognosis of ASCP is dark and OS appears to be more closely related to surg...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Primary cardiac angiosarcoma: case report of a rare neoplasia
This article reports a case of primary cardiac angiosarcoma and a brief review is provided. A 44-year-old male patient was suspected of having myxoma in the right atrium. The tumor, on pathology examination, was shown to be a cardiac angiosarcoma. In the postoperative period, the patient developed a cardiac tamponade, requiring reoperation and evolving to death. Angiosarcomas are malignant tumors characterized by a devastating clinical course. They have a predilection for the right atrium, occurring between the third and fifth decades of life, with a male preponderance. Because of its rarity, the ideal treatment has not be...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Cervical squamous intraepithelial lesions grades 1 and 2: value of an alternative morphological classification and of p16 immunohistochemistry in the prediction of clinical outcome
Conclusion: The use of an alternative morphological classification is promising; in the context of the use of immunohistochemical antibodies as biomarkers, p16 showed good sensitivity and negative predictive value in the determination of cases in which the outcome was unfavorable.RESUMO Introdu ção: A reproducibilidade diagnóstica e a determinação de fatores prognósticos em neoplasias intraepiteliais cervicais graus 1 e 2 ainda são problemas relevantes na prática diária da histopatologia ginecológica. Objetivo: Correlacionar o valor da reclassificação morfológica e da imunoex pressão do marcador p16 em neop...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research