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 reclassifica&ccedi...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Clinical and laboratory repercussions in patient with hemoglobin SD-Punjab disease: a case report
We report the first case of hemoglobin SD-Punjab disease, a rare form of sickle-cell disease, in the state of Bahia. Detection was possible by a test for the identification of hemoglobin (Hb) variants with the high-resolution liquid chromatography technique. By means of the molecular study of chromosomal polymorphism with beta-globin S gene, the Bantu haplotype was observed. According to studies, there is strong association between the prevalence of Bantu haplotype and reduced levels of fetal Hb and Hb D-Punjab as a stimulating factor for S polymerization, what contributes to the hematological disorders of the disease and ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Troponin I (cTnI) fragments immunoreactivity and the development of high-sensitivity diagnostic assays for the associated diagnosis of acute myocardial infarction
This article discusses the differences between troponin fragments immunoreactivity to the development of cTnI determination tests, such as the high-sensitivity tests, which arise with the proposal of guaranteeing greater efficiency in the AMI associated diagnosis.RESUMO Entre as doen ças cardiovasculares (DCV), o infarto agudo do miocárdio (IAM) atualmente é considerado a causa mais comum de morte e incapacidade em todo o mundo. Vários testes laboratoriais vêm sendo desenvolvidos para a detecção de lesões cardíacas, entre eles, as troponinas, consideradas marcad...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Frequency of classes I and II HLA alleles in deceased donors of solid organs in Espírito Santo, Brazil
Conclusion: The present study contributed with significant information about the frequency of HLA antigens in deceased donors of solid organs in the Brazilian population that will contribute to optimize t he transplantation process in the country.RESUMO Introdu ção: A população brasileira possui grande mistura racial, tendo sido originada, principalmente, de caucasoides de origem europeia, africanos e índios. As especificidades do sistema de antígenos leucocitários humanos (HLA) variam entre os diferentes grupos populacionais e étnicos, uma vez que demonstram maior si...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Evaluation of VITEK 2 Compact and VITEK MS in the identification of coagulase-negative staphylococci isolated from blood cultures
Conclusion: Through the analysis between the two devices and based on scientific articles comparing the methods involved in the study, it was possible to observe the great biochemic al similarity among the coagulase-negative staphylococci species, this being the main limitation of the phenotypic method. The VITEK MS equipment showed high discrimination between species when compared to the gold standard method, besides being rapid and easy to use.RESUMO Introdu ção: Estafilococos coagulase-negativos (ECN) estão entre os principais colonizantes de pele e mucosas, atuando como comensais. Apesar de apresen...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

High-sensitivity troponins: a major breakthrough
(Source: Jornal Brasileiro de Patologia e Medicina Laboratorial)
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - December 18, 2017 Category: Pathology Source Type: research

Comparison of cythopathology and frozen section methods in the intraoperative evaluation of breast sentinel lymph node
Conclusion: The results of the present study shows that both CP and FS are reliable techniques for metastasis detection in breast sentinel lymph nodes, and are equivalent in sensibility, specificity, accuracy, PPV and NPV.RESUMO Introdu ção: A análise citopatológica (CP) e o método de corte por congelação (CC) são técnicas disponíveis de avaliação intraoperatória do linfonodo sentinela nas cirurgias para tratamento de câncer de mama que vão definir a necessidade de linfadenectomia axilar. Objetivo: Comparar a avalia &cce...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Lymphoepithelial cyst on the tongue: case report at unusual location
ABSTRACT Oral lymphoepithelial cyst (OLEC) is an uncommon lesion that develops in oral lymphoid tissue. The aim of the present study was to report a clinical case of OLEC in the tongue. A 22-year-old patient presented a nodular lesion, yellowish, with a softened consistency, measuring 0.5 cm in the ventral surface of the tongue. Under the clinical hypotheses of mucocele and OLEC, excisional biopsy was performed. The histopathological examination revealed a cystic lesion covered by a parakeratinized stratified squamous epithelium, which presented in its fibrous capsule a prominent lymphoid tissue. Based on the definitive di...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Perforation of pyometra presenting as obstructive acute abdomen and peritonitis: a case report
We report a rare case of a 67-year-old postmenopausal woman presenting diffuse peritonitis secondary to spontaneous perforation of pyometra with obstructive acute abdomen. During laparotomy was performed subtotal abdominal hysterectomy with bilateral salpingo-oophorectomy. The histopathology found the presence of moderately differentiated uterine squamous cell carcinoma. Despite intensive care, the patient died due to multiple organ failure resulting from sepsis on postoperative day 1. This case shows the importance of clinical suspicion on the acute gynecological diseases presenting as a systemic disease in the emergency ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Tissue microarray: physical and chemical parameters involved in the construction of recipient blocks
Conclusion: The data obtained from the physical and chemical adjustments of the TMA recipient blocks provided vital information that, w hen applied in TMA research projects, may reduce the losses associated with the method.RESUMO Introdu ção: O microarranjo tecidual (MAT) é considerado um método inovador em vários campos, com uma vasta diversidade de aplicações e vantagens em relação às técnicas histomorfométricas clássicas. A vantagem mais importante que o MAT oferece é a avaliação simultânea de um grande ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Evaluation of the fetal urine sample through vesicocentesis: an approach to diagnostic and therapeutic application
We report the case of a fetus with mega-bladder and suspected lower urinary tract obstruction (LUTO). The 20-week pregnancy ultrasound scan showed absence of amniotic fluid (anhydramnios), enlarged bladder, and narrowing of the urethra in the proximal region. At 21 weeks of gestational age, vesicocentesis was performed for relief of obstruction and analysis of biochemical of the fetal urine and karyotyping was carried out, which presented normal result (46,XY). This technique is indicated in cases of severe oligohydramnios or difficulty of placental access and has diagnostic and therapeutic function.RESUMO Relatamos o caso...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Clinical and laboratory diagnosis of Zika fever: an update
ABSTRACT Zika fever can be defined as an acute febrile viral illness, mainly transmitted by the mosquito of the genus Aedes. It makes a differential diagnosis from diseases caused by other flaviviruses, such as chikungunya and dengue fever. Many people with Zika virus (ZIKV) infection will not have symptoms or will only have mild clinical symptoms. The clinical conditions are nonspecific and characterized by low-grade fever, pruritic erythematous maculopapular rash, non-purulent conjunctival hyperemia without pruritus, arthralgia, myalgia, and headache. It is a benign, self-limiting and short-duration condition. Complicati...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Effect of multiple freeze-thaw cycles on the stability of positive anti-treponemal serum samples
Conclusion: It was shown that 174 freeze-thaw cycles of anti-treponemal sera did not affect the stability and the quality of samples, when evaluated by chemiluminescence assay.RESUMO Introdu ção: As amostras biológicas têm sido utilizadas em múltiplas investigações por um longo período de tempo, e existe a preocupação a respeito dos seus repetidos ciclos de congelamento e descongelamento que podem afetar os resultados de determinado ensaio imunodiagnóstico pela ocorrência de dano físico do anticorpo de interesse. Objetivo: O objetivo d...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Prevalence and antimicrobial susceptibility profile of ESKAPE pathogens from the Federal District, Brazil
Conclusion: Studies such as this should be performed periodically in order to evaluate the bacterial susceptibility profile. They demonstrate the importance of implementing strategies to prevent hospital-acquired infections, as well as greater antibiotic prescribing control.RESUMO Introdu ção: Os principais patógenos causadores de infecções nosocomiais foram resumidos pela sigla ESKAPE, que são as iniciais das seguintes bactérias: Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumanni, Pseudomonas aeruginosa e Enterobacter spp., as quais p...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Repetition of biochemistry tests in a laboratory of public hospital in southwest of Bahia, Brazil, and associated cost
Conclusion: It was observed that most of the repetitions performed in the laboratory were classified as unnecessary when evaluated by the criteria used. These repetitions generated a potentially avoidable laboratory cost increase, negatively impacting the time to release the results.RESUMO Introdu ção: A repetição de exames é uma prática antiga comum aos laboratórios clínicos, usada basicamente para confirmação de resultados. No entanto, ao conhecer a história dos pacientes, as repetições tornam-se evitáveis. Elas prejudicam o...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Hereditary hemochromatosis: study of laboratory alterations related to polymorphism
The objective of this study was to evaluate the association of the C282Y, H63D and S65C polymorphisms and laboratory markers in the study cases. Methods: The study was carried out based on the analysis of medical records from 283 patients assisted from January 2010 to January 2013, older than 18 years of age, who performed the genotyping protocol for HH and laboratory exams. The analysis of markers between genotype and laboratory exams was performed by the SPSS20.0 software. Results: The most frequent genetic alterations were in H63D/WT 84 (31%) and C282Y/WT 17 (6.2%). The most compatible genotype for HH was C282Y/C282Y, e...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Waste in laboratory medicine
(Source: Jornal Brasileiro de Patologia e Medicina Laboratorial)
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - September 28, 2017 Category: Pathology Source Type: research

Giant nodular pseudoangiomatous stromal hyperplasia of the breast with fibroadenomatoid myxoid changes: a potential pitfall in the differential diagnosis of phyllodes tumor
ABSTRACT A 21-year old woman presented with a 17-cm left breast mass. Physical examination and ultrasound revealed the mass to be well-circumscribed, homogeneous and freely mobile, suggestive of giant fibroadenoma or phyllodes tumor. The mass was surgically excised and initially interpreted as benign phyllodes tumor. Subsequent slide review established the diagnosis of nodular pseudoangiomatous stromal hyperplasia (PASH) associated with fibroadenomatoid areas and myxoid stromal changes. This case illustrates the difficulty encountered in recognizing nodular PASH. A thorough discussion of the histopathologic differential di...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Blended learning strategies in teaching general pathology at a medical course
Conclusion: The use of BL can provide students wit h greater contextualization of pathology in medical practice, contributing to a more meaningful learning.RESUMO Introdu ção: Atualmente, em muitas escolas médicas, percebe-se que o aprendizado de patologia geral é deficiente, principalmente em decorrência do desinteresse pelos conhecimentos não diretamente relacionados com a prática profissional e da falta de recursos pedagógicos que motivem a aprendizagem. O blended learning (BL) é uma metodologia ativa de ensino híbrido que utiliza diferentes recursos t...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Muscle biopsies in dermatomyositis and polymyositis: practical relevance of analyzing different levels of histological sections of the same muscular compartment
Conclusion: Our results stress the importance of evaluating different levels of histological sections from the same muscle biopsy block, in order to minimize possible false-negative results. In addition, the data reinforce that besides the inflammatory infiltrate, the other histological parameters analyzed also occur in foci, justifying the dissociation between these parameters and clinical patients.RESUMO Introdu ção: É frequente na prática médica encontrar achados histológicos com aspectos dentro da normalidade em biópsias musculares de pacientes com dermatomiosite (DM) ou...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Creation of a comprehensive proficiency testing program for molecular diagnosis in Brazil
The objective of this study was to evaluate the short-term stability of the serum samples used as internal quality control (IQC) of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (Aids) and syphilis immunodiagnostic assays. These samples were produced at the Center of Immunology-Instituto Adolfo Lutz (IAL), and they were distributed to laboratories participating in the IAL Quality Control Program. Method: The sera analyzed by chemiluminescence assay were stored at varied temperature conditions: from 2 ºC to 8ºC (refrigerator), from 15ºC to 25ºC (room temperature), at 37ºC (in...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Study on the stability of HIV and syphilis reference materials under varied temperature conditions during their transportation
The objective of this study was to evaluate the short-term stability of the serum samples used as internal quality control (IQC) of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (Aids) and syphilis immunodiagnostic assays. These samples were produced at the Center of Immunology-Instituto Adolfo Lutz (IAL), and they were distributed to laboratories participating in the IAL Quality Control Program. Method: The sera analyzed by chemiluminescence assay were stored at varied temperature conditions: from 2 ºC to 8ºC (refrigerator), from 15ºC to 25ºC (room temperature), at 37ºC (in...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

No association between glutathione S-transferase M1 and T1 gene polymorphisms and susceptibility to endometriosis
Conclusion: In the present study, the GSTM1 and GSTT1 polymorphisms are not associated with a higher risk of endometriosis.RESUMO Introdu ção: A endometriose é uma doença ginecológica comum influenciada por fatores genéticos e ambientais. A família de glutationa-S-transferase está associada à endometriose porque tem como principal função a detoxificação celular, de modo que a ausência dessas enzimas pode ser um fator no desenvolvimento da doença. Objetivo: Investigar a relação entre polimorfismos nos genes ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Antimicrobial susceptibility of Streptococcus pneumoniae isolated from patients in the northeastern macroregion of São Paulo state, Brazil, 1998-2013
Conclusion: Monitoring of Streptococcus pneumoniae antimicrobial resistance is essential to guide the appropriate empirical treatment of pneumococcal disease.RESUMO Introdu ção: Em todo o mundo existem relatos de aumento das infecções causadas por Streptococcus pneumoniae resistentes aos antimicrobianos. Objetivo: Avaliar o perfil de suscetibilidade dos sorotipos de Streptococcus pneumoniae, associando-os com as doenças invasivas pneumocócicas (DIP), bem como co m as terapias antimicrobianas. Método: Trata-se de um seguimento retrospectivo com enfoque em dados secundá...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Description of the quality indicators defined in the National Reference Laboratory in Tuberculosis of CRPHF/Ensp/Fiocruz by means of the process mapping methodology
Conclusion: Through this study, we seek to encourage and impel the managers involved in the field of TB and in the field of health on the utility and the need to control and measure processes, being able to standardize them with the help of indicators or other quality tools.RESUMO Introdu ção: O Laboratório de Referência Nacional (LRN) em Tuberculose (TB) é uma unidade laboratorial de excelência técnica altamente especializada que tem desenvolvido projetos envolvendo a capacitação de recursos humanos e o aprimoramento de técnicas fundamentais para o diagn&...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Study of correlation between imatinib mesylate plasma levels and hematological profile of patients undergoing treatment for chronic myeloid leukemia
Conclusion: There was no correlation between the number of leukocytes, platelets and hemoglobin and the serum level of IM, although there is a trend with respect to hemoglobin (p = 0.062).RESUMO Introdu ção: Leucemia mieloide crônica (LMC) é uma desordem genética de células-tronco hematopoiéticas, resultando em uma expansão mieloproliferativa das células sanguíneas. A LMC está associada à presença do cromossomo Philadelphia (Ph), o que gera um oncogene (BCR-ABL). Atualmente, o tratamen to de primeira escolha é o mesilato de ima...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Evaluation of pleural and ascitic fluid analysis on the Sysmex XE-5000 hematology analyzer
Conclusion: XE-5000 provides accurate and precise count for TC-BF, WBC-BF and polymorphonuclear cells (PMN-BF) in pleural and ascitic fluids in medical decision lev els, but the morphological differentiation should continue to be held by OM. Histogram and scattergram displayed on XE-5000 must always be analyzed to assess if there is any interference or flag. The HF-BF parameter is a potential tool for screening.RESUMO Introdu ção: A análise de líquidos corporais é fundamental para o diagnóstico e o acompanhamento de várias condições patológicas. Devido &...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Muscle biopsy with different levels of histological sections: an old procedure as a “still modern” approach
(Source: Jornal Brasileiro de Patologia e Medicina Laboratorial)
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - August 10, 2017 Category: Pathology Source Type: research

Ménétrièr disease in a pediatric patient with particular reference to echoendoscopy, endoscopic and anatomopathological presentation and evolutionary and therapeutic aspects
ABSTRACT M énétrier's disease (MD) is included in the group of hypertrophic gastropathy; is a rare gastric hyperplasia that affects adults and children, with different behavior between these groups. We know that its etiology is related to allergens and co-infections. It's characterized by the hypertrophy of the gastric folds, with the appearance of cerebral convolutions on Upper Gastrointestinal Endoscopy (UGE) and, histologically, by the mucosal hypertrophy at the expense of foveolar hyperplasia and atrophy of the glands in body and fundus of the stomach. The UGE together with the gastric tissue biops y conf...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Diagnostic errors in surgical pathology
ABSTRACT Pathology must aim at a correct and complete diagnosis for the patient, timely, useful and understandable to the physician assistant. However, in daily practice, there are multiple possibilities of errors in the pathology laboratory, with several impacts on patient care and prognosis. In this review, we discuss the different concepts of error and diagnostic concordances in pathology, at which point in the diagnostic process the errors are more frequent, and propose solutions to minimize the chance of their occurrence.RESUMO A patologia deve ter como meta um diagn óstico correto e completo para o paciente, e...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

CD64 expression on polymorphonuclear cells as a potential marker for monitoring the human cytomegalovirus replication after kidney transplantation
This study aims to investigate if CD64 expression on polymorphonuclear (PMN) cells is useful for the detection of HCMV infection in eleven kidney recipients during sixty days. From the total patients, nine were positive for both pp65 antigenemia and HCMV by quantitative polymerase chain reaction (qPCR), all of which had circulating neutrophils expressing CD64 3-4 weeks prior to pp65 antigenemia peak. These results suggest that quantification of PMN CD64 together with pp65 antigenemia could be useful for the early diagnosis of HCMV after transplantation.RESUMO A infec ção por citomegalovírus humano (CMV...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Antimicrobial susceptibility profile of enterotoxigenic and enteropathogenic Escherichia coli isolates obtained from fecal specimens of children with acute diarrhea
In this study, the antimicrobial susceptibility profile of 98 enterotoxigenic E. coli (ETEC) and enteropathogenic E. coli (EPEC) strains isolated from fecal specimens of children with acute diarrhea was evaluated. The resistance rates to ampicillin, sulfamethoxazole/trimethoprim, amoxicillin/clavulanate, and nalidixic acid were high, ranging from 34.7% to 10.2%. The result of this research recommends the use of cefotaxime and ceftriaxone for the empirical treatment of children with acute diarrhea which the etiology suggested is ETEC or EPEC.RESUMO Entre as doen ças cuja etiopatogenia está associada à E...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Quality control of the slides by Kato-Katz method for the parasitological diagnosis of schistosomiasis infection by Schistosoma mansoni
Conclusion: This study provides the laboratory which performs the diagnosis of schistosomiasis using the Kato-Katz method with parameters to implement a diagnostic service that can be evaluated internally and externally. The establishment of a quality protocol enables the comparison of data and the identification of failures in the operational procedure, which can be corrected by training personnel and taking actions for the problems identified.RESUMO Introdu ção: O Kato-Katz é o método laboratorial adotado pelo Ministério da Saúde (MS) e pela Organização Mundial da S...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis
ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotype analysis (G-bands after trypsin and Giemsa). The karyotype analysis identified Xq27.3 fragility in 17% of the metaphases analyzed and in 54% when using TC 199, consistent with the cytogenetic diagnosis of the syndrome. This case was the sole one to present the fra(X) tests in the high-resolution karyotype analysis in our care service, contributing to future diagnoses...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Evaluation of agreement between tests for the diagnosis of leprosy
Conclusion: The high sensitivity of PCR decreases the agreement with other tests.RESUMO Introdu ção: A hanseníase é uma doença infecciosa crônica causada pelo parasita intracelular Mycobacterium leprae. O diagnóstico é essencialmente clínico, com base em sintomas, exame da pele, nervos periféricos e história epidemiológica. Testes laboratoriais são realizados para complementar o r esultado de diagnóstico clínico, ou mesmo servindo como método de confirmação. Objetivo: Investigar a positividade e a co...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

HBV and HCV serological markers in health professionals and users of the Brazilian Unified Health System network in the city of Resende, Rio de Janeiro, Brazil
Conclusion: The prevalence of 0.68% for HCV and 3.08% for anti-HBc are below that detected in the Southeast region from the last census in the capitals of Brazil. There is still a reduced acceptance among health professi onals for HBV and HCV screening.RESUMO Introdu ção: As infecções causadas pelo vírus da hepatite B (VHB) e C (VHC) constituem grave problema de saúde pública. Objetivos: O estudo visou detectar os marcadores HBsAg, anti-HBc, anti-HBs e anti-VHC em profissionais de saúde e usuários do Sistema Único de Saúde (SUS) no municípi...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Resistance of non-fermenting Gram-negative bacilli isolated from blood cultures from an emergency hospital
Conclusion: Screening of resistant NFGNB isolated, as well as greater attention to hospital-acquired infection control practices and epidemiological surveillance systems, in addition to continued care with regard to the targeted use of antibiotics can contribute to successful this battle against infections by these microorganisms.RESUMO Introdu ção: Os bacilos Gram-negativos não fermentadores (BGNNF) são um grupo heterogêneo de microrganismos que não possuem a capacidade de fermentar carboidratos como forma de obtenção de energia. Possuem mais de 120 espécies cl...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Influence of obesity on the serum concentration of retinol-binding protein 4 (RBP4) in young adults
This study evaluated the serum concentration of RBP4 and biomarkers of insulin resistance (IR) in young adult patients with normal weight, overweight and obese. Methods: A cross sectional study was conducted involving 149 subjects: 54 healthy individuals (32 women and 22 men), 27 overweight (17 women and 10 men) and 68 obese (41 women and 27 men). The anthropometric measures and the concentrations of RBP4, insulin, HbA1c and glucose were determined, in addition to the calculations for homeostatic model assessment of insulin resistance (HOMA-IR) and insulin sensitivity (IS). Results: overweight and obese patients showed sig...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

The tip of the iceberg: what is hidden under the fragile X
(Source: Jornal Brasileiro de Patologia e Medicina Laboratorial)
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 19, 2017 Category: Pathology Source Type: research

Applications of electron microscopy in health: the example of epidermolysis bullosa
We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the applications and importance of this technique in the health area. The patient was a male, the only child of young and non-consanguineous parents without similar cases in the family. The patient underwent a cutaneous biopsy in which TEM revealed sub-basal membrane involvement, confirming the diagnosis of DEB. Despite technological advances, TEM continues to play an important role in diagnosis and clinical research and is considered the best option for confirmation of diagnosis and ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

Acute lymphoblastic leukemia: primary bone manifestation with hypercalcemia in a child
ABSTRACT Primary bone manifestation associated with hypercalcemia is an infrequent presentation of acute lymphoblastic leukemia (ALL) in children. An 8-year-old girl was admitted with bone and abdomen pain, vomiting, fever, headache, anemia, elevated serum calcium and normal parathyroid hormone levels. Bone radiographs: osteolytic lesions. Bone marrow biopsy showed an infiltration by ALL with immunohistochemical positivity for CD45, CD20, CD79a, TdT and CD10, clinically characterized by hypercalcemia, multifocal osteolytic lesions and single cytopenia. Bone marrow biopsy was a relevant aid in establishing the diagnosis of ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

Predominant overexpression of CD25/FOXP3, IFN-γ, and suppressive cytokines in high-grade lesion samples infected with human papillomavirus
Conclusion: The co-expression of CD25/FOXP3 and the expression of TGF- β , and IL-10 in HSIL samples suggest the existence of Treg cells in these locations, although IFN- γ expression was observed in several cells in these samples. Our data suggest that this cytokine could be related to immunosuppressed microenvironment maintenance, favoring the persistent HPV infection and the progression to carcinoma.RESUMO Introdu ção: A infecção persistente por papilomavírus humano (HPV) é a principal causa do câncer cervical e suas lesões precursoras, e a resposta imune...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

Tissue immunostaining of growth, pro- and anti-apoptotic biomarkers in myocardial samples from newborns with hypoxic injury
Conclusion: These data seem to strengthen the coordinated action of the pro-apoptotic, anti-apoptotic and cell growth biomarkers in the myocardium of hypoxic newborns in order to determine the degree of lesion or cell death and the tissue recovery capacity.RESUMO Introdu ção: Apesar da importância de novas descobertas em patofisiologia das doenças cardiovasculares para a saúde da população, ainda existe pouco conhecimento sobre como a hipóxia neonatal, relacionada ou não com a prematuridade, pode causar lesão celular nos cardiomiócitos no per&iacut...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

The measurement of serum osmolality and its application to clinical practice and laboratory: literature review
Conclusion: The measurement of serum osmolality is useful in cases of dehydration, sodium and potassium disorders, glucose alteration, exogenous poisoning, adrenal insufficiency, neurological injury, physical exercise and others.RESUMO Introdu ção: A osmolalidade sérica constitui um parâmetro laboratorial importante para compreensão de diversas desordens clínicas, como os distúrbios eletrolíticos, as intoxicações exógenas e o status de hidratação. Objetivo: Este trabalho visa atualizar os conhecimentos acerca do exame de osm olalidade...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

Evaluation of cytokines in type 1 diabetes patients with and without retinopathy
ABSTRACT Introduction: Diabetes mellitus is one of the greatest public health problems in the world; the numerous complications of this disease are the focus of great concern, as they are related to high morbidity and mortality. Among the complications of diabetes, diabetic retinopathy is the most common microvascular complication. Objectives: Evaluate the association of plasma levels of inflammatory cytokines interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF- α ), and interferon-gamma (IFN- γ ), and anti-inflammatory cytokine interleukin-10 (IL-10) with diabetic retinopathy and the correlation of plasma l...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

The frequency of βS-globin haplotypes in the state of Paraná, Brazil, and clinical manifestations of sickle cell anemia
Conclusion: In this study, no association was found between haplotypes and clinical manifestations, probably given the almost absolute predominance of CAR and BEN haplotypes. However, this fact alerts to the possible influence of other polymorphisms and miscegenation in the Brazilian population.RESUMO Introdu ção: A variabilidade nas manifestações clínicas da anemia falciforme (HbSS) pode ser influenciada pelos haplótipos no grupamento da globina β S, nomeados de acordo com a origem geogr áfica: República Centro-Africana (CAR), Benin (BEN), Senegal (SEN) Camar&ot...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

The detection of Bence Jones protein in urine by the heat test helps in diagnosis of multiple myeloma?
Conclusion: The evaluation results of BJ protein detection by the heat method sho wed sensitivity of 47.4%, specificity of 91.3%, with positive and negative predictive values of 50% and 90.4%, respectively.RESUMO Introdu ção: O mieloma múltiplo (MM) é uma neoplasia maligna hematológica causada pela intensa proliferação indiscriminada de plasmócitos na medula óssea. Diante da suspeita clínica de MM devem ser realizados exames laboratoriais e exames de imagem, entre outros. Objetivos: Avaliar o teste labora torial de calor para detecção de pr...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research

Molecular technique for detection and identification of Helicobacter pylori in clinical specimens: a comparison with the classical diagnostic method
Conclusion: PCR is a useful method in the laboratorial routine to detect the presence of H. pylori in the stomach tissue, due to high sensitivity and specificity, but it requires a more careful analysis and standardization.RESUMO Introdu ção: Helicobacter pylori é uma bactéria encontrada nas células epiteliais do trato gastrointestinal humano. Sua infecção relaciona-se com diferentes patologias, como gastrite crônica, úlcera péptica, linfoma gástrico e adenocarcinoma. A infecção por Helicobacter pylori está presente em mais da ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - March 16, 2017 Category: Pathology Source Type: research