Role of receptor activator of nuclear factor kappa B ligand (RANKL) in the modulation of osteolysis in primary and revision total hip arthroplasty

Tese de mestrado integrado. Bioengenharia. Faculdade de Engenharia. Universidade do Porto. 201

Gastroenterite aguda em crianças internadas na área de Lisboa

Introdução: A Gastroenterite Aguda (GEA) é uma patologia com importante morbilidade sendo a segunda causa de internamento na idade pediátrica. Objetivo: Caracterizar a GEA, em crianças internadas em dois hospitais da área de Lisboa com diferentes características demográficas. Métodos: Estudo prospetivo de Maio 2011 a Junho 2012. Pesquisados potenciais agentes etiológicos por técnicas convencionais e de biologia molecular em amostras de fezes e analisados dados epidemiológicos e clínicos. Resultados: Total de 140 amostras de crianças com GEA com identificação do agente em 83,6%: 64,3% vírus, 27,9% parasitas e 21,4% bactérias. Os agentes mais frequentes foram rotavírus (26,4%), norovírus II (13,6%), enterovírus (12,1%), Microsporidia (11,4%), Escherichia coli (9,3%), Campylobacter jejuni (7,9%), Giardia sp. (5,7%), Cryptosporidium sp. (5%) e Salmonella sp. (4,3%). Coinfecções (2 ou mais agentes) em 40 doentes (28,6%). Mediana de idade de 1,4 anos (min-5 dias; max-17 anos) sendo a etiologia viral mais frequente abaixo dos 5 anos (p<0.01), com o rotavírus identificado em crianças mais jovens (média=1,7 anos). Dois picos sazonais: o rotavírus entre Janeiro e Março e norovírus entre Agosto e Outubro. Apenas 10 (7,1%) doentes estavam vacinados para rotavírus, mas nenhum com o esquema completo. A presença de sangue nas fezes (p=0.02) e a febre (p=0.039) foram mais frequentes na infeção bacteriana, os vómitos (p<0.01) e os sintomas respiratórios (p=0.046) na infeção por rotavírus. Registaram-se complicações clínicas em 50 doentes (35,7%): desidratação (47), invaginação íleo-cecal (1), adenite mesentérica (1) e apendicite fleimonosa (1). Conclusão: Os vírus são os agentes mais frequentes de GEA sobretudo na criança pequena (idade <5 anos), sendo o rotavírus e norovírus os principais agentes. O número de coinfecções foi significativo mas não se associou a maior morbilidade. A ausência de identificação de agente em alguns casos pode refletir a necessidade de outros meios diagnósticos ou a existência de agentes ainda desconhecidos

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients. METHODS: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays. RESULTS: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected ∼70.6% of pathogenic changes. CONCLUSION: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis

Poor Immune Reconstitution in HIV-Infected Patients Associates with High Percentage of Regulatory CD4(+) T Cells

CD4(+) regulatory T cells (Tregs) are essential for the maintenance of the immune system's equilibrium, by dampening the activation of potential auto-reactive T cells and avoiding excessive immune activation. To correctly perform their function, Tregs must be maintained at the right proportion with respect to effector T cells. Since this equilibrium is frequently disrupted in individuals infected with the human immunodeficiency virus (HIV), we hypothesize that its deregulation could hamper immune reconstitution in patients with poor CD4(+) T cell recovery under highly active antiretroviral therapy (HAART). We analysed Tregs percentages amongst CD4(+) T cells in 53 HIV-infected patients under HAART, with suppression of viral replication and distinct levels of immune reconstitution. As controls, 51 healthy individuals were also analysed. We observed that amongst the patients with Nadir values (the lowest CD4(+) T cell counts achieved) = 10% of total CD4(+) T cells) had the worse CD4(+) T cell reconstitution. In accordance, the well-described direct correlation between the Nadir value and CD4(+) T cell reconstitution is clearly more evident in individuals with high Tregs proportions. Furthermore, we observed a strong negative correlation between Tregs percentages and CD4(+) T cell recovery among immunological non-responder HIV+ individuals. All together, this work shows that high Tregs frequency is an important factor associated with sub-optimal CD4(+) T cell recovery. This is particularly relevant for immunological non-responders with low Nadir values. Our results suggest that the Tregs proportion might be of clinical relevance to define cut-offs for HAART initiation

Homozygous Inactivating Mutation In Nanos3 In Two Sisters With Primary Ovarian Insufficiency.

Despite the increasing understanding of female reproduction, the molecular diagnosis of primary ovarian insufficiency (POI) is seldom obtained. The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. We performed mutational analysis of NANOS3 in a cohort of 85 Brazilian women with familial or isolated POI, presenting with primary or secondary amenorrhea, and in ethnically-matched control women. A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. The substituted amino acid is located within the second C2HC motif in the conserved zinc finger domain of NANOS3 and in silico molecular modelling suggests destabilization of protein-RNA interaction. In vitro analyses of apoptosis through flow cytometry and confocal microscopy show that NANOS3 capacity to prevent apoptosis was impaired by this mutation. The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology.201478746

Qual conteúdo é abordado em um concurso público em odontologia? / What is required in dentistry area in public test?

O concurso público é uma das melhores formas de inserção do cirurgião-dentista na Estratégia Saúde da Família (ESF) e em outros serviços de saúde pública. O objetivo deste estudo foi verificar o perfil de provas de concursos públicos de Odontologia no estado da Paraíba, bem como analisar a coerência entre a proposta da ESF e o conteúdo da seleção de profissionais para este cargo. Os exames foram recuperados através de pesquisa em sites bastante acessados que disponibilizam provas de concursos no Brasil, PCI Concursos e Folha Dirigida, como também em sites de empresas de maior representatividade nas licitações de concurso na Paraíba. Os resultados apontaram que no período de 2007 a 2015, 94 dos 223 municípios da Paraíba (42,0%), disponibilizaram provas para o cargo de cirurgião dentista. Para análise dos dados foram criadas três categorias: QG,  para os quesitos que englobam as questões gerais presentes nas provas (44%). QT, questões técnicas individuais que equivaleram a 73% dos quesitos relacionados aos conhecimentos específicos e QC, correpondendo a 27% dos quesitos relacionados ao caráter coletivo. Dentre as áreas que envolveram os quesitos técnicos individuais, a Dentística foi a de maior prevalência com 23,4%, seguida de Biossegurança (19,2%) e Cirurgia (11,9%). Conclui-se que os concursos para os cirurgiões dentistas que querem atuar na ESF na Paraíba, abordam em sua maioria conteúdos de especialidades clínicas e apresentam escassez de questões coletivas. O conteúdo das provas destes concursos é de extrema importância para selecionar o perfil do profissional para atuar na ESF.

Repercurssões da Covid-19 na função respiratória em pacientes pediátricos e neonatos: revisão/ Repercursions of Covid-19 on respiratory function in pediatric and newborn patients: a review

Discutir acerca das principais repercussões da COVID-19 na função respiratória de pacientes pediátricos e neonatos. Revisão eletrônica das bases de dados LILACS, PubMed, e SciELO utilizando os descritores “COVID-19”, “repercussions” “pediatric”. A pesquisa foi realizada no período de  Novembro de 2021 à Janeiro de 2022, tendo como critérios de inclusão publicações entre os anos de 2010 à 2021, nos idiomas Português, Inglês e Espanhol, com relatos acerca das repercussões da COVID-19 na função respiratória pediátrica e neonatal e critérios de exclusão, artigos de revisão, estudos realizados em animais, artigos pagos, estudos publicados em ano inferior a 2010 e artigos duplicados nas bases de dados. Foram encontrados 40 estudos, destes 11 artigos preencheram os critérios de inclusão. A maioria dos casos observados na pediatria são assintomáticos, no entanto, os poucos casos sintomáticos, apresentam manifestações clínicas, como: tosse seca, coriza, odinofagia, secreção nasal e febre; e nos casos de pacientes graves, sintomas como: febre alta, SDRA, fadiga/mialgia e polipneia, podendo haver riscos de Pneumonia e SIM-P. Apesar das repercussões, pacientes pediátricos e neonatais demonstram um bom prognóstico, quando tratados de maneira individualizada. Por isso, entender e discorrer acerca das principais manifestações que acometem este público é de suma importância para a evolução do tratamento precoce contra às sequelas da COVID-19

Mycobacterium tuberculosis associated with severe tuberculosis evades cytosolic surveillance systems and modulates IL-1β production

Genetic diversity of Mycobacterium tuberculosis affects immune responses and clinical outcomes of tuberculosis (TB). However, how bacterial diversity orchestrates immune responses to direct distinct TB severities is unknown. Here we study 681 patients with pulmonary TB and show that M. tuberculosis isolates from cases with mild disease consistently induce robust cytokine responses in macrophages across multiple donors. By contrast, bacteria from patients with severe TB do not do so. Secretion of IL-1β is a good surrogate of the differences observed, and thus to classify strains as probable drivers of different TB severities. Furthermore, we demonstrate that M. tuberculosis isolates that induce low levels of IL-1β production can evade macrophage cytosolic surveillance systems, including cGAS and the inflammasome. Isolates exhibiting this evasion strategy carry candidate mutations, generating sigA recognition boxes or affecting components of the ESX-1 secretion system. Therefore, we provide evidence that M. tuberculosis strains manipulate host-pathogen interactions to drive variable TB severities

The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the extended Baryon Oscillation Spectroscopic Survey and from the second phase of the Apache Point Observatory Galactic Evolution Experiment

The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since July 2014. This paper describes the second data release from this phase, and the fourteenth from SDSS overall (making this, Data Release Fourteen or DR14). This release makes public data taken by SDSS-IV in its first two years of operation (July 2014-2016). Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey (eBOSS); the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data driven machine learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS website (www.sdss.org) has been updated for this release, and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020, and will be followed by SDSS-V.Comment: SDSS-IV collaboration alphabetical author data release paper. DR14 happened on 31st July 2017. 19 pages, 5 figures. Accepted by ApJS on 28th Nov 2017 (this is the "post-print" and "post-proofs" version; minor corrections only from v1, and most of errors found in proofs corrected