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Objective Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (rhCG) stimulus in children with 46,XY disorders of sex development (DSD). Methods Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal and non-gonadectomized. Testosterone, dihydrotestosterone (DHT), DHEA and androstenedione were measured by IA and LC-MS/MS before and 7 days after rhCG injection. The correlation between IA and LC-MS/MS was analyzed by the intraclass correlation coefficient (ICC) and Spearman’s rank correlation coefficient (SCC). For concordance analysis the Passing and Bablok (PB) regression and the Bland and Altman (BA) method were used. Results Testosterone showed excellent correlation (ICC = 0.960 and SCC = 0.964); DHT showed insignificant and moderate correlations as indicated by ICC (0.222) and SCC (0.631), respectively; DHEA showed moderate correlation (ICC = 0.585 and SCC = 0.716); and androstenedione had poor and moderate correlations in ICC (0.363) and SCC (0.735), respectively. Using the PB method, all hormones showed a linear correlation, but proportional and systematic concordance errors were detected for androstenedione, systematic errors for testosterone and no errors for DHEA and DHT. By the BA method, there was a trend of IA to overestimate testosterone and androstenedione and underestimate DHEA and DHT when compared to LC-MS/MS. Conclusion Traditional IA should be replaced by LC-MS/MS for the androgens measurement in prepubertal children whenever is possible.

During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear.Published and unpublished studies from January 1981 to June 2020 were systematically reviewed on PubMed, Web of Science and Scopus. Additionally, the reference list of all studies was hand-searched for additional studies. This effort identified a total of 104614 registered patients and suggests identification of at least 10590 additional PID patients, mainly from countries located in Asia and Africa. Molecular defects in genes known to cause PID were identified and reported in 13852 (13.2% of all registered) patients.Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more reinforcement of the progress, involving both improved diagnostic facilities and neonatal screening.

Made available in DSpace on 2022-04-28T19:43:26Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-07-01 Universidade Federal do Paraná Institute of Biotechnology and Bioengineering, Isfahan University of Technology Purdue University Homeless persons have been considered as one of the most susceptible populations to sexually transmitted infections. In Brazil, these population experienced an increase of 140% from 2012 to 2020. Accordingly, the present study aimed to assess the seroprevalence of anti-Treponema pallidum, anti-HCV, anti-HIV antibodies, and the risk factors associated with homeless persons in a daytime attendance shelter of São Paulo city during the syphilis epidemic in Brazil. Blood samples of 116 volunteers and epidemiological data were conveniently collected in the shelter from June through August 2018. Detection of syphilis, HCV, and HIV antibodies was performed by chemiluminescent microparticle immunoassay (CMIA). CMIA-reagent samples for anti-T. pallidum antibodies were confirmed by Venereal Disease Research Laboratory (VDRL) non-treponemal test. VDRL non-reagent samples were confirmed by treponemal rapid immunochromatographic test. A rapid immunoblot assay confirmed seropositivity to HIV. Overall, anti-T. pallidum antibodies were observed in 29/116 (25.0%), anti-HCV antibodies in 4/116 (3.4%), and anti-HIV antibodies in 2/116 (1.7%) individuals, both co-infected with anti-T. pallidum antibodies. Associated risk factors for syphilis in homeless persons were being born or previously living in another city (p = 0.043) and becoming homeless due to family conflicts (p = 0.035). Besides homeless vulnerability, worldwide shortage of benzathine penicillin supply and increasing of syphilis testing access through rapid testing in primary health care services may have also impacted disease spreading at the time. The prevalence of syphilis found herein is the highest worldwide to date in this population. Federal University of Paraná Department of Veterinary Medicine College of Veterinary Science Federal University of Paraná Clinics Hospital Clinical Analysis Laboratory Unit Federal University of Paraná Department of Cellular and Molecular Biology College of Cellular and Molecular Biology State University of Ponta Grossa Department of Nursing and Public Health São Paulo State University Institute of Biotechnology, Botucatu University of São Paulo Department of Medical Microbiology Purdue University Department of Comparative Pathobiology Federal University of Paraná Department of Veterinary Medicine Brazil São Paulo State University Institute of Biotechnology, Botucatu

Background: Current guidelines recommend assessment of 25-vitamin D status in patients with chronic kidney disease (CKD). Although significant differences among assays have been described, the impact of CKD on this variability has never been tested. Methods: We tested the variability between two 25-vitamin D assays in patients with CKD (eGFR < 60 mL/min/1.73m2) who had consecutive 25-vitamin D measurements in 2015 (Assay 1 - Diasorin LIASON 25 TOTAL - D assay®) and 2016 (Assay 2 - Beckman Coulter Unicel Xl 800®). The cohort consisted of 791 adult patients (122 with normal renal function and 669 with CKD - 33, 30, and 37% in stages 3, 4, and 5 on dialysis, respectively). Results: Levels of 25-vitamin D were lower and the prevalence of hypovitaminosis D using assay 1 was higher than using assay 2 in patients with CKD, regardless of similar levels of calcium, phosphate, and parathyroid hormone. As kidney function decreased, the percentage of disagreement between the assays increased. Conclusion: There is a noteworthy variability between assays in patients with CKD such that the diagnosis of hypovitaminosis D is modified. The mechanism behind this result is still unclear and might be due to a possible interference in the analytical process. However, the clinical significance is unquestionable, as the supplementation of vitamin D can be erroneously prescribed to these patients.

Introduction: Early diagnosis is an important tool for strategies to fight human immunodeficiency virus (HIV) infection. Objective: The main objective of this study is to evaluate the comparability of the results of rapid tests (RT) used for the HIV diagnosis in relation to conventional molecular and serological tests in blood samples from a population of men who have sex with men (MSM), from 12 Brazilian capitals. Material and methods: 591 HIV-1 reactive test samples from 4176 MSM participants were submitted to Instituto Adolfo Lutz (IAL) for evaluation by conventional laboratory tests. From these samples with at least one RT reagent, 522 samples were analyzed, and in 493 (94.4%) the HIV positivity was confirmed, with 33% HIV-1 viral load above 5,000 copies/mL and 67% by the serological tests. A total of 336 (10%) samples with a non-reactive RT result were evaluated by standard serology, four (1.2%) tested positive for HIV. Results and conclusion: The results showed a high percentage of samples with confirmed HIV positivity in the conventional laboratory tests, as well as some non-reactive results that were confirmed positive, indicating some limitations of the RT single-step method. Therefore, the serological tests had a fundamental role in clarifying the diagnosis. RESUMO Introdução: O diagnóstico precoce é um importante instrumento para estratégias de combate à infecção pelo vírus da imunodeficiência humana (HIV). Objetivo: O objetivo principal deste trabalho foi avaliar a comparabilidade do resultado de testes rápidos (TR) utilizados para o diagnóstico de HIV em relação a testes moleculares e sorológicos convencionais em amostras de sangue de população de homens que fazem sexo com homens (HSH) de 12 capitais brasileiras. Material e métodos: Foram encaminhadas ao Instituto Adolfo Lutz (IAL), 591 amostras com resultado reagente no TR HIV dos 4176 HSH participantes para serem avaliadas pelos testes laboratoriais convencionais. Dessas amostras com pelo menos um TR reagente, 522 amostras foram analisadas e em 493 (94,4%) confirmou-se a positividade para HIV, sendo 33% pela carga viral HIV-1 acima de 5.000 cópias/ml e 67% pelos testes sorológicos. Foram avaliadas pela sorologia convencional, 336 (10%) amostras com resultado de TR não reagente; quatro (1,2%) apresentaram-se reagentes para HIV. Resultados e conclusão: Os resultados mostraram elevado percentual de amostras com a positividade confirmada para HIV nos testes laboratoriais convencionais, bem como alguns resultados negativos que se confirmaram positivos, mostrando algumas limitações do método único do TR, destacando-se aos exames sorológicos papel fundamental à elucidação do diagnóstico.

Introduction: Many factors can impact the performance of diagnostic assays for the human immunodeficiency virus (HIV) infection, affecting the results of population surveys. Objective: The objective of this study was to evaluate the performance of point-of-care rapid tests (RT) used for HIV diagnosis as compared to conventional tests in blood samples from a population of transvestites and transsexual women. Methods: A total of 1,385 samples with HIV RT results were submitted to Instituto Adolfo Lutz for evaluation by conventional laboratory tests. Results: HIV positivity was confirmed by conventional laboratory tests in 100% of the 240 (17.3%) samples with reactive RT. However, 1,145 (82.7%) samples with non-reactive RT results were evaluated; three (0.3%) tested positive and one (0.1%), indeterminate for HIV. Although a proportion of discordant results were found, the point-of-care RTs showed a high confirmation rate when compared to the serological tests. Conclusion: The data of this study corroborate the importance of adopting effective management tools to ensure quality of HIV infection diagnosis. RESUMEN Introducción: Muchos factores pueden impactar en el desempeño pruebas para diagnóstico de la infección por el virus de la inmunodeficiencia humana (VIH), comprometiendo los resultados de investigaciones poblacionales. Objetivo: El objetivo de este estudio fue evaluar el desempeño de pruebas rápidas (PR) en el punto de atención utilizadas para diagnosticar el VIH en relación con las pruebas convencionales en muestras de sangre de la población de travestis y mujeres transexuales en la ciudad de São Paulo, São Paulo, Brasil. Métodos: Un total de 1.385 muestras con resultados de PR de VIH se remitieron al Instituto Adolfo Lutz (IAL), para ser evaluadas por pruebas de laboratorio convencionales. Resultados: De las 240 (17,3%) muestras que presentaron resultado reactivo en las PR, positividad para VIH se confirmó en el 100% por pruebas de laboratorio convencionales. Sin embargo, de las 1.145 (82,7%) muestras evaluadas con resultado de PR non reactivo, tres (0,3%) se presentaron reactivas y una (0,1%), indeterminada para VIH. Aunque un porcentaje de resultados falsos negativos en las PR ha sido encontrado, las pruebas realizadas en el punto de atención poseen alta tasa de confirmación cuando comparadas con las pruebas serológicas. Conclusión: Los datos de este estudio resaltan la importancia de adoptar herramientas de gestión eficaces para garantizar la calidad del diagnóstico de la infección por VIH. RESUMO Introdução: Muitos fatores podem impactar no desempenho dos testes para diagnóstico da infecção pelo vírus da imunodeficiência humana (HIV), comprometendo os resultados de pesquisas populacionais. Objetivo: O objetivo deste estudo foi avaliar o desempenho dos testes rápidos (TR) - point-of-care - utilizados para o diagnóstico do HIV em relação aos ensaios convencionais em amostras de sangue da população de travestis e mulheres transexuais da cidade de São Paulo, São Paulo, Brasil. Métodos: Ao Instituto Adolfo Lutz (IAL), 1.385 amostras com os resultados dos TR do HIV foram encaminhadas para serem avaliadas por testes laboratoriais convencionais. Resultados: Das 240 (17,3%) amostras que apresentaram resultado reagente nos TR, a positividade para HIV foi confirmada em 100% por testes laboratoriais convencionais. Entretanto, das 1.145 (82,7%) amostras com resultado de TR não reagente avaliadas, três (0,3%) apresentaram-se reagentes e uma (0,1%), indeterminada para HIV. Embora uma porcentagem de resultados falso-negativos nos TR tenha sido encontrada, os testes realizados em campo possuem alta taxa de confirmação quando comparados com os testes sorológicos. Conclusão: Os dados deste estudo ressaltam a importância da adoção de ferramentas de gestão eficazes para assegurar a qualidade do diagnóstico da infecção por HIV.

The aim of this study was to estimate the prevalence of use of licit and illicit drugs and verify the behavioral profile among truck drivers. A total of 697 truck drivers were interviewed at a gas station on BR-153, between from February 2014 to February 2015. The questionnaire ASSIST was applied to screening the use of alcoholic beverages, tobacco and illicit drugs. Sociodemographic information and professional were also collected. Urine samples were screened for licit and illicit drugs. All of truckers were male, median age of 42 years, most of them married and low scholarity. 47% related moderate or high consumption of alcohol and tobacco and need a brief intervention. 21% use of cocaine, cannabinoids, amphetamine, hypnotics/sedatives, opioids, inhalants and need specialist treatment. From the 697 participants, 94% provided urine samples. 10,5% were positive for drugs. 5,2% were positive for cocaine, 2,6% for cannabinoids, 2,0% for amphetamine, 0,4% for benzodiazepines, 0,3% positive for methamphetamines and 1,4% for combined use of two drugs. Young and single truckers use tobacco, cannabis and amphetamines and need to receive brief intervention for these drugs. Truck drivers in the northern region of low education, require specialized treatment for tobacco. Truck drivers make high use of tobacco, alcohol, cocaine and other ilicit drugs. Measures are needed to improve quality of life to the drivers, as well as to prevent and treat individuals who use licit and illicit drugs in order to reduce engagement with traffic accidents. Se estimó la prevalencia del uso de drogas lícitas e ilícitas y verificar el perfil de comportamiento de los camioneros. Se entrevistó a 697 camioneros en una gasolinera de la BR-153, de febrero 2014 a febrero 2015. Se aplicó el cuestionario ASSIST para rastrear el consumo de bebidas alcohólicas, tabaco y drogas ilícitas. También se recogió información sociodemográfica y profesional. Se analizaron muestras de orina para detectar drogas lícitas e ilícitas. Los conductores de camiones eran hombres, con una edad media de 42 años, la mayoría de los cuales estaban casados y tenían un nivel educativo bajo. El 47% informó un consumo moderado o alto de alcohol y tabaco y necesitaría una breve intervención y 21% consumía cocaína, cannabinoides, anfetaminas, hipnóticos/sedantes, opioides, inhalantes y necesitan tratamiento especializado. De los 697 participantes, el 94% proporcionó muestras de orina. El 10,5% fueron positivos a fármacos; 5,2% fueron positivos para cocaína, 2,6% para cannabinoides, 2,0% para anfetaminas, 0,4% para benzodiazepinas, 0,3% para metanfetaminas y 1,4% para el uso combinado de drogas. Los conductores de camiones jóvenes y solteros consumían tabaco, marihuana y anfetaminas y necesitaban recibir una breve intervención. Para los camioneros de la región Norte, con bajo nivel educativo, era necesario un tratamiento especializado para el tabaquismo. Los camioneros consumen mucho tabaco, alcohol, cocaína y otras drogas. Se necesitan medidas para mejorar la calidad de vida de los conductores, así como para prevenir y tratar a los usuarios de drogas, con el fin de reducir la participación en accidentes de tráfico. O objetivo deste estudo foi estimar a prevalência do uso de drogas lícitas e ilícitas e verificar o perfil comportamental de caminhoneiros. Foram entrevistados 697 motoristas de caminhões em um posto de gasolina da BR-153, de fevereiro de 2014 a fevereiro de 2015. O questionário ASSIST foi aplicado para rastreamento do uso de bebidas alcoólicas, tabaco e drogas ilícitas. Informações sociodemográficas e profissionais também foram coletadas. Amostras de urina foram testadas para drogas lícitas e ilícitas. Todos os caminhoneiros eram do sexo masculino, idade mediana de 42 anos, a maioria casados e com baixa escolaridade. 47% relataram consumo moderado ou alto de álcool e tabaco e precisariam de uma intervenção breve. 21% consumiam cocaína, canabinoides, anfetaminas, hipnóticos/sedativos, opioides, inalantes e necessitam de tratamento especializado. Dos 697 participantes, 94% forneceram amostras de urina. 10,5% foram positivos para drogas. 5,2% foram positivos para cocaína, 2,6% para canabinoides, 2,0% para anfetaminas, 0,4% para benzodiazepínicos, 0,3% para metanfetaminas e 1,4% para uso combinado de duas drogas. Caminhoneiros jovens e solteiros usavam tabaco, maconha e anfetaminas e precisavam receber intervenção breve para essas drogas. Aos caminhoneiros da região Norte, com baixa escolaridade, o tratamento especializado para o tabagismo era necessário. Os caminhoneiros fazem alto uso de tabaco, álcool, cocaína e outras drogas ilícitas. São necessárias medidas para melhorar a qualidade de vida dos motoristas, bem como prevenir e tratar os usuários de drogas lícitas e ilícitas, a fim de reduzir o envolvimento em acidentes de trânsito.

Ao longo dos últimos 35 anos, grandes progressos foram alcançados em termos de prevenção, diagnóstico e tratamento de infeção VIH, com redução da incidência de infeção em Portugal, na última década. Ainda assim, continua a existir uma taxa elevada de doentes com diagnóstico tardio, com consequências individuais e populacionais. Este artigo tem como objetivos: apresentar um ponto de situação da infeção VIH em Portugal, rever brevemente a evolução natural da infeção e explicitar o mais recente algoritmo de diagnóstico de infeção VIH, revisto em 2014, reforçando a necessidade de manter um elevado nível de suspeição clínica para o diagnóstico precoce de infeção.

Results of Chagas’ disease diagnosis show disagreement. The aim of this study was to compare commercial tests for Chagas’ disease serodiagnosis in southern Brazil. A total of 161 samples were evaluated. Three enzyme-linked immunosorbent assays, one indirect hemagglutination and one indirect immunofluorescence were assessed. Trypomastigote excreted-secreted antigen-blot was a confirmatory method. From 161 samples, 65.84% were positive in all tests, while 34.16% presents mismatch result in at least one of the tests. All techniques tested presented false-positive and/or false-negative results as follows: Enzyme-linked immunosorbent assay 1 had more false-positive results (lower specificity), indirect immunofluorescence had the highest rate of false-negative results (lower sensitivity), enzyme-linked immunosorbent assays had fewer false-negative results (higher sensitivity), while indirect hemagglutination showed no false-positive result (higher specificity). Knowing the characteristics of techniques make it possible to combine them and obtain more reliable diagnosis. Therefore, it seems useful to combine techniques for diagnosing this infection. Keywords: Trypanosoma cruzi, Chagas’ disease, Serodiagnosis, Immunoassays

A dosagem do GH no soro é essencial para confirmar ou excluir o seu excesso. Na acromegalia, a ausência de critérios clínicos suficientemente sensíveis para monitorizar o sucesso do tratamento faz com que o GH sérico seja o procedimento de escolha e, para isso, é essencial que a sua dosagem seja realizada de forma confiável, capaz de permitir interpretações uniformes. Vários critérios hormonais têm sido propostos para caracterizar remissão da acromegalia, incluindo níveis séricos de GH randômico inferior a 2,5 μg/l, nadir de GH durante o teste de tolerância oral a glicose inferior a 1,0 μg/l e IGF-I normal para sexo e idade. A importância do tratamento adequado consiste na possibilidade de reverter a mortalidade prematura da acromegalia através da diminuição dos níveis de GH para valores menores que 2,5 μg/l. Com o surgimento de ensaios ultra-sensíveis para medida do GH, tornaram-se necessários critérios mais estritos para determinar cura ou remissão da doença. Nesta revisão, descreveremos aqui as modificações decorrentes da evolução dos ensaios, as conseqüências nos resultados de GH e os pontos de corte propostos na literatura para caracterização da atividade e remissão da acromegalia. Growth hormone quantification in serum is essential for confirming or ruling out its excess. The absence of clinical criteria sufficiently sensitive to evaluate the treatment success enables GH as the key diagnostic procedure and for that, its measurements must be done in a reliable way and must allow uniform interpretation. Several different biochemical criteria for remission have been suggested in the past, including a random GH measurement less than 2.5 μg/l, mean GH value from a day curve less than 2.5 μg/l, nadir GH value after an oral glucose tolerance test (OGGT) less than 1.0 μg/l and a normal age-related IGF-I level. The importance of adequate treatment is highlighted by data indicating that lowering GH levels to less than 2.5 μg/l reverses the premature mortality of acromegaly. With the advances of ultrasensitive assays for GH measurement, strictest remission criteria to determine remission or cure were necessary. In this review, we describe the changes of assay methodology and its consequences in serum GH results and cut off point values to define activity and remission of acromegaly.