Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.

Context: Various genes have been associated with familial and sporadic primary hyperparathyroidism (PHPT), including activating mutations of the glial cells missing transcription factor 2 (GCM2) gene. Objective: The aim of this study was to assess the prevalence of the GCM2 p.Tyr394Ser variant in the Jerusalem Ashkenazi Jewish (AJ) population with PHPT, and to conclude whether routine genetic testing is justified. Methods: The blood of 40 self-reported AJ patients with PHPT and 200 AJ controls was tested for the GCM2 p.Tyr394Ser variant. Demographic and medical information was extracted from the patients' charts and evaluated accordingly. Results: Two (5%) PHPT patients and 3 (1.5%) controls were heterozygotes for the tested variant. Our patients were mostly (87.5%) sporadic cases. One of the heterozygote patients had familial PHPT; the other had 2 parathyroid adenomas, and the levels of his blood and urinary calcium were extremely high. Conclusion: Our results suggest that in AJ patients with sporadic, single-gland PHPT, the likelihood of the tested variant is low and genetic testing should be limited to those with familial PHPT or multiglandular disease.

Gestational Risk as a Determining Factor for Cesarean Section according to the Robson Classification Groups.

OBJECTIVE: To analyze and compare the frequency of cesarean sections and vaginal deliveries through the Robson Classification in pregnant women attended at a tertiary hospital in two different periods. METHODS: Cross-sectional, retrospective study of birth records, comprising 4,010 women, conducted from January 2014 to December 2015 in the only public regional referral hospital for the care of high- risk pregnancies, located in Southern Brazil. RESULTS: The overall cesarean section rate reached 57.5% and the main indication was the existence of a previous uterine cesarean scar. Based on the Robson Classification, groups 5 (26.3%) and 10 (17.4%) were the most frequent ones. In 2015, there was a significant increase in the frequency of groups 1 and 3 (p < 0.001), when compared with the previous year, resulting in an increase in the number of vaginal deliveries (p < 0.0001) and a reduction in cesarean section rates. CONCLUSION: The Robson Classification proved to be a useful tool to identify the profile of parturients and the groups with the highest risk of cesarean sections in different periods in the same service. Thus, it allows monitoring in a dynamic way the indications and delivery routes and developing actions to reduce cesarean rates according to the characteristics of the pregnant women attended.

OBJETIVO: Analisar e comparar a frequência de partos cesáreos e vaginais através da classificação de Robson em gestantes atendidas em um hospital terciário em dois períodos distintos. MéTODOS: Estudo transversal retrospectivo de registros de nascimento, compreendendo 4.010 mulheres, realizado de janeiro de 2014 a dezembro de 2015 no único hospital público de referência regional para atendimento de gestações de alto risco, localizado no sul do Brasil. A via de parto foi avaliada e as mulheres foram classificadas de acordo com a Classificação de Robson. RESULTADOS: A taxa geral de cesariana foi de 57,5% e a principal indicação foi a existência de cicatriz uterina por cesariana prévia. Quando aplicada a Classificação de Robson, os grupos mais frequentes foram o 5 (26,3%) e o 10 (17,4%). No ano de 2015, ocorreu um aumento significativo da frequência dos grupos 1 e 3 (p < 0,001), quando comparado ao ano anterior, resultando em aumento do número de partos vaginais (p < 0,0001) e redução das taxas de cesariana. CONCLUSãO: A Classificação de Robson mostra ser uma ferramenta útil para identificar o perfil das parturientes e os grupos com maior risco de cesariana em diferentes períodos em um mesmo serviço. Desta forma, permite monitorar de forma dinâmica as indicações e vias de parto e desenvolver ações para redução das taxas de cesariana conforme as características das gestantes atendidas.

One-step, wash-free, bead-based immunoassay employing bound-free phase detection.

We present a simple and fast one-step heterogeneous immunoassay, with performance characteristics that can enable easy and versatile adaptation to miniaturized, automated point-of-care systems. This novel analytical method uses magnetic and fluorescent beads as capture and detection agents respectively. Its main feature is the measurement of the fluorescent signal in the bound-free phase for (semi-)quantitative detection of analytes. Thus, no washing is required and the workflow consists only of sample and reagent supply, incubation, separation and detection. The immunoassay concept is demonstrated with C-reactive protein (CRP), a systemic inflammation marker. CRP in only 5 µL of undiluted serum was measured in the range 20-140 mg L-1 (includes clinically relevant cut-off values). The limit of detection (LOD) was 22.1 ± 6.3 mg L-1 (incubation 15 min). A CRP certified reference material was measured on five different days. Intra- and inter-assay coefficients of variation were 4.6 ± 1.9% and 5.6% respectively. To demonstrate the compatibility of the assay concept with additional matrices and concentration ranges, three oral inflammation markers, namely matrix metalloproteinases 8 and 9 (MMP-8, MMP-9) and tissue inhibitor of metalloproteinases 1 (TIMP-1), were measured in saliva in the ranges 0.47-30 ng mL-1 for MMP-8 and MMP-9, and 0.69-44 ng mL-1 for TIMP-1. LODs were 0.24 ng mL-1, 0.38 ng mL-1 and 0.39 ng mL-1 respectively (incubation 20 min). Multiplexing capacity of the assay concept was also shown with these markers. The demonstrated excellent reproducibility of the results, combined with the versatility and low complexity of the introduced immunoassay concept, make it an attractive candidate for applied analytical chemistry and automated point-of-care testing.

Fully automated point-of-care differential diagnosis of acute febrile illness.

BACKGROUND: In this work, a platform was developed and tested to allow to detect a variety of candidate viral, bacterial and parasitic pathogens, for acute fever of unknown origin. The platform is based on a centrifugal microfluidic cartridge, the LabDisk ("FeverDisk" for the specific application), which integrates all necessary reagents for sample-to-answer analysis and is processed by a compact, point-of-care compatible device. METHODOLOGY/PRINCIPAL FINDINGS: A sample volume of 200 µL per FeverDisk was used. In situ extraction with pre-stored reagents was achieved by bind-wash-elute chemistry and magnetic particles. Enzymes for the loop-mediated isothermal amplification (LAMP) were pre-stored in lyopellet form providing stability and independence from the cold chain. The total time to result from sample inlet to read out was 2 h. The proof-of-principle was demonstrated in three small-scale feasibility studies: in Dakar, Senegal and Khartoum, Sudan we tested biobanked samples using 29 and 9 disks, respectively; in Reinfeld, Germany we tested spiked samples and analyzed the limit of detection using three bacteria simultaneously spiked in whole blood using 15 disks. Overall during the three studies, the FeverDisk detected dengue virus (different serotypes), chikungunya virus, Plasmodium falciparum, Salmonella enterica Typhi, Salmonella enterica Paratyphi A and Streptococcus pneumoniae. CONCLUSIONS/SIGNIFICANCE: The FeverDisk proved to be universally applicable as it successfully detected all different types of pathogens as single or co-infections, while it also managed to define the serotype of un-serotyped dengue samples. Thirty-eight FeverDisks at the two African sites provided 59 assay results, out of which 51 (86.4%) were confirmed with reference assay results. The results provide a promising outlook for future implementation of the platform in larger prospective clinical studies for defining its clinical sensitivity and specificity. The technology aims to provide multi-target diagnosis of the origins of fever, which will help fight lethal diseases and the incessant rise of antimicrobial resistance.

Longitudinal Study of Delta-Aminolevulinate Dehydratase Activity and Oxidative Profile in Healthy Pregnant Women.

Pregnancy is characterized by changes in various organs, triggering changes in the use of energy substrates and increased oxygen consumption. In addition, gestation is an oxidative event that can be assessed by the relationship between free radicals and antioxidants produced by the body. Excessive production of free radicals has detrimental effects such as damage to enzymes, carbohydrates, and DNA. Thus, the objective of this study was to evaluate the oxidative status and antioxidant responses throughout pregnancy through a longitudinal study. Reactive oxygen species were analyzed by means of thiobarbituric acid reactive substances and nitric oxide, the antioxidant system through vitamin C, sulfhydryl groups, total antioxidant capacity, and ferric reducing ability of plasma as well as enzymes such as catalase and delta-aminolevulinate-dehydratase in pregnant women in the three gestational trimesters (n = 30). According to the results, the markers of oxidative damage showed significant differences in the different gestational trimesters where they were increased in the second trimester when compared to the first trimester. The antioxidant defenses responded differently in each gestational trimester, suggesting a response pattern to try to combat the damage caused by free radicals, in order to stabilize the increase of oxidative stress caused in the second gestational trimester.

Gestational risk as a determining factor for cesarean section according to the robson classification groups / Risco gestacional como fator determinante para cesariana de acordo com os grupos da Classificação Robson

Abstract Objective To analyze and compare the frequency of cesarean sections and vaginal deliveries through the Robson Classification in pregnant women attended at a tertiary hospital in two different periods. Methods Cross-sectional, retrospective study of birth records, comprising 4,010 women, conducted from January 2014 to December 2015 in the only public regional referral hospital for the care of high- risk pregnancies, located in Southern Brazil. Results The overall cesarean section rate reached 57.5% and the main indication was the existence of a previous uterine cesarean scar. Based on the Robson Classification, groups 5 (26.3%) and 10 (17.4%) were the most frequent ones. In 2015, there was a significant increase in the frequency of groups 1 and 3 (p < 0.001), when compared with the previous year, resulting in an increase in the number of vaginal deliveries (p < 0.0001) and a reduction in cesarean section rates. Conclusion The Robson Classification proved to be a useful tool to identify the profile of parturients and the groups with the highest risk of cesarean sections in different periods in the same service. Thus, it allowsmonitoring in a dynamic way the indications and delivery routes and developing actions to reduce cesarean rates according to the characteristics of the pregnant women attended.

Resumo Objetivo Analisar e comparar a frequência de partos cesáreos e vaginais através da classificação de Robson em gestantes atendidas em um hospital terciário em dois períodos distintos. Métodos Estudo transversal retrospectivo de registros de nascimento, compreendendo 4.010 mulheres, realizado de janeiro de 2014 a dezembro de 2015 no único hospital público de referência regional para atendimento de gestações de alto risco, localizado no sul do Brasil. A via de parto foi avaliada e as mulheres foram classificadas de acordo com a Classificação de Robson. Resultados A taxa geral de cesariana foi de 57,5% e a principal indicação foi a existência de cicatriz uterina por cesariana prévia. Quando aplicada a Classificação de Robson, os grupos mais frequentes foram o 5 (26,3%) e o 10 (17,4%). No ano de 2015, ocorreu um aumento significativo da frequência dos grupos 1 e 3 (p < 0,001), quando comparado ao ano anterior, resultando em aumento do número de partos vaginais (p < 0,0001) e redução das taxas de cesariana. Conclusão A Classificação de Robson mostra ser uma ferramenta útil para identificar o perfil das parturientes e os grupos com maior risco de cesariana em diferentes períodos em um mesmo serviço. Desta forma, permitemonitorar de forma dinâmica as indicações e vias de parto e desenvolver ações para redução das taxas de cesariana conforme as características das gestantes atendidas.

Chair/bedside diagnosis of oral and respiratory tract infections, and identification of antibiotic resistances for personalised monitoring and treatment.

Global healthcare systems are struggling with the enormous burden associated with infectious diseases, as well as the incessant rise of antimicrobial resistance. In order to adequately address these issues, there is an urgent need for rapid and accurate infectious disease diagnostics. The H2020 project DIAGORAS aims at diagnosing oral and respiratory tract infections using a fully integrated, automated and user-friendly platform for physicians' offices, schools, elderly care units, community settings, etc. Oral diseases (periodontitis, dental caries) will be detected via multiplexed, quantitative analysis of salivary markers (bacterial DNA and host response proteins) for early prevention and personalised monitoring. Respiratory Tract Infections will be diagnosed by means of DNA/RNA differentiation so as to identify their bacterial or viral nature. Together with antibiotic resistance screening on the same platform, a more efficient treatment management is expected at the point-of-care. At the heart of DIAGORAS lies a centrifugal microfluidic platform (LabDisk and associated processing device) integrating all components and assays for a fully automated analysis. The project involves an interface with a clinical algorithm for the comprehensive presentation of results to end-users, thereby increasing the platform's clinical utility. DIAGORAS' performance will be validated at clinical settings and compared with gold standards.

O Projeto de Atenção à Saúde Mental dos Trabalhadores da Universidade Federal do Rio de Janeiro - Prasmet: 20 anos / The Workers' Mental Health Care Project of Universidade Federal do Rio de Janeiro - Prasmet: 20 years

O Projeto de Atenção à Saúde Mental dos Trabalhadores (Prasmet), da Universidade Federal do Rio de Janeiro, se inscreve no campo da Saúde do Trabalhador como um esforço concentrado de produzir conhecimento em saúde mental e trabalho, oferendo clínica psicossocial aos que trabalham em uma das maiores universidades brasileiras.