Estudo de prevalência das agenesias dentárias, numa população ortodôntica

Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Medicina DentáriaIntrodução: A agenesia dentária, também definida como ausência congénita, é caracterizada pela diminuição numérica dos elementos dentários. É uma das anomalias dentárias mais frequentes no ser humano e resulta de distúrbios durante as fases de iniciação e proliferação no decorrer da organogénese . É fundamental o conhecimento da sua prevalência e consequências para umm bom enquadramento clínico. O diagnóstico precoce é de vital importância na prevenção dos distúrbios maxilo-mandibulares, permitindo estabelecer uma conduta clínica e ortodôntica na época mais adequada. Objetivo: Determinar a prevalência das agenesias dentárias numa população ortodôntica, através da análise de radiografias panorâmicas. Métodos: Foram selecionadas 500 pacientes ortodônticos que frequentaram o Centro de Ortodontida Prof. Doutor Carlos Silva no período compreendido entre Janeiro e Março de 2014. Segundo os critérios de inclusão e exclusão, a amostra do estudo foi constituida por 197 pacientes , com idades compreendidas entre os 7 e os 14 anos de idade. O diagnóstico de agenesia dentária foi feito a partir da análise detalhada das radiografias panorâmicas procedendo-se à recolha de dados relativos a género, idade, existência de agenesia e sua localização, fases de erupção dos terceiros molares, em ficha preparada para o efeito. Resultados: Na amostra de 197 pacientes (64% do sexo feminino e 36% do sexo masculino), obteve-se uma prevalência de agenesias dentárias de 19,8%, incluindo os terceiros molares e 10,2%, excluindo estes dentes. Excluindo os terceiros molares, 45% apresentam agenesia de dois dentes; os dente mais frequentemente ausentes foram os pré-molares mandibulares (dente 35 com 8,99% e dente 45 com 11,24%); a prevalência por sexos foi 65% para o sexo feminino e 35% para o sexo masculino; segundo as arcadas dentárias verificou-se 9,6% de agenesias no maxilar superior e 11,2% no inferior. A bilateralidade das agenesias foi predominante em 69,2% dos casos de agenesia. Não foram observadas anomalias de forma em dentes homólogos aos afectados pela agenesia, quando unilateral. A idade média em que foi possível vizualizar os gérmens dos terceiros molares foi aos 10 anos. Conclusão: Numa população de 197 pacientes ortodônticos, 10,2% apresentaram agenesias dentárias (excluindo o 3º molar). O dente mais frequentemente ausente, excluindo os terceiros molares, foi o segundo pré-molar mandibular. Os resultados obtidos enquadram-se nos anteriormente descritos em diferentes populações. Em relação ao sexo e arco dentário, as diferenças obtidas nos resultados não se revelaram estatisticamente significativas. A ocorrência de bilateralidade foi de 69%, um resultado estatisticamente significativo. Introduction: Dental agenesis also defined as congenital absence, is characterized by the reduction number of teeth. It is one of the most common development anomalies of the human dentition, and it happens as a result of a disturbance during the stages of initiation and proliferation in the organogenesis. Knowledge of its prevalence is of great importance for an accurate clinical assessment. An early diagnostic is of vital importance in order to prevent jaw disturbances, allowing a clinical and orthodontic intervention at the appropriate moment. Aim: To determine the prevalence of dental agenesis in an orthodontic population, using panoramic radiographs. Methods: 500 patients that attended “Centro de Ortodontia e Reabilitação Oral Prof. Doutor Carlos Silva” from January until March of 2014 were selected according to the inclusion and exclusion criteria, the study sample was comprised of 197 patients with ages between 7 and 14 years old. Dental agenesis was diagnosed from detailed analysis of panoramic radiographs, and information regarding gender, age, existing dental agenesis and its localization, eruption stages of third molars was collected and organized. Results: In the sample of 197 patients (64% female, 36% male), we obtained a tooth agenesis prevalence of 19,8% including third molars, and 10,2% excluding these teeth. Excluding third molars, 45% of cases had agenesis of two teeth; the most frequently missing tooth was the mandibular second premolar (3.5 with 8,99% and 4.5 with 11,24%); prevalence by gender was 65% for female and 35% for males; in regards to the upper jaw the dental agenesis prevalence was 9,6% and in the lower jaw was 11,2%. The bilateral agenesis was predominant with 69,2% of cases. There were no alterations of form in the unilateral dental agenesis. The average age we could visualize the third molar germen was 10 years old. Conclusion: In a sample of 197 patients, 10,2% presented hypodontia (excluding third molars). The most frequently missing tooth was the mandibular second premolar. The obtained results are in accordance with previously published studies with different populations. In regards to sex and dental arch, the results show there is no statistical differences. The occurrence of bilateral agenesis was 69%, a statistical significant result

Pre analytical Checklist: a relevant tool for External Quality Assessment (EQA)

According to ISO 15189 2012 laboratory shall participate in an external quality assessment (programme and implement the corrective actions when necessary The EQA programs should have the effect of checking the entire analytical process, including pre and post examination procedures The National Program for External Quality Assessment (provides since 2007 EQA pre analytical schemes, including a checklist since 2016. The aim of this work is to share PNAEQ’s checklist for pre analytical phase, and evaluate trend over time of the results of PNAEQ participants, between 2019-2021.N/

Results of the Portuguese EQA program for molecular detection of SARS-CoV-2, 2020-2022

The initial strategy for containing the spread of SARS CoV 2 was the prompt identification of COVID 19 cases. National Reference laboratory implemented the biomolecular assays to detect SARS-CoV-2. In June 2020 the Portuguese National External Quality Assessment Program (PNAEQ) in collaboration with National Reference Laboratory for Influenza and Other Respiratory Viruses (NRL) organized the first National External Quality Assessment Program (EQA) for detection of SARS CoV 2 virus by molecular methods. The majority of the rounds included extra analytical questions The aim of EQA programs is to evaluate the participant’s performance and also estimate the overall detection rate of multiple national laboratories. We aimed to evaluate the results of implementation of a national external quality assessment program for the molecular detection of SARS-CoV-2 virus during 2020-2022.info:eu-repo/semantics/publishedVersio

Molecular basis of the non-classical hereditary hemochromatosis in Portugal

A Hemocromatose Hereditária (HH) é uma doença autossómica recessiva caracterizada pela absorção excessiva de ferro a nível intestinal e sua acumulação em órgãos vitais, podendo originar cardiomiopatia, cirrose e carcinoma hepatocelular. O correspondente diagnóstico molecular é obtido pela associação com genótipos específicos no gene HFE (homozigotia para p.Cys282Tyr ou heterozigotia composta p.Cys282Tyr/p.His63Asp). Contudo, nos países do sul da Europa, cerca de um terço dos doentes com diagnóstico clínico de HH não apresenta os referidos genótipos. Para identificar a base molecular da HH não-clássica em Portugal usaram-se metodologias de pesquisa geral de variantes genéticas (SSCP e dHPLC), Next-Generation Sequencing (NGS) e sequenciação de Sanger, cobrindo seis genes relacionados com o metabolismo do ferro em 303 doentes. Identificaram-se 69 variantes diferentes e de vários tipos, por ex. missense, nonsense, de splicing, que perturbam a transcrição do gene ou a regulação da tradução do mRNA. Seguidamente, realizaram-se estudos in silico e in vitro para esclarecer o significado etiológico de algumas das novas variantes. Concluiu-se que a base molecular desta patologia é bastante heterogénea e que a NGS é uma ferramenta adequada para efetuar a análise simultânea dos vários genes num grande número de amostras. Contudo, o estabelecimento da relevância clínica de algumas variantes requer a realização de estudos funcionais.Hereditary Hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive intestinal iron absorption and deposition in vital organs leading to cardiac failure, cirrhosis and hepatocellular carcinoma. Molecular diagnosis of common HH is made by the presence of specific genotypes in HFE gene (p.Cys282Tyr homozygosity or p.Cys282Tyr/p.His63Asp compound heterozygosity). However, in Southern European countries up to one third of the patients with a clinical diagnosis of HH do not have these genotypes. In order to identify the molecular basis of the non-classical HH in Portugal, we used genetic screening methods for the detection of unknown mutations (SSCP and dHPLC), Next-Generation Sequencing (NGS) and/or Sanger sequencing in six HH-related genes in 303 patients. Sixty-nine different variants were identified, including missense, nonsense and splicing variants, and variants that impair gene transcription or mRNA translation regulation. In silico and in vitro studies were performed to know the likely etiologic significance of some of the novel variants found. We can conclude that the molecular basis of the non-classical HH in Portuguese population is largely heterogeneous. NGS revealed to be an appropriate tool for fast analysis of the HH-related genes in a large number of samples. However, establishing the clinical relevance of some novel variants requires further functional studies

Does It Matter?

Funding Information: This research was partially co-financed by Hospital da Luz Lisboa under the initiative “Luz Investigação” in the context of the Group GENIUS (Reference LH.INV.F2019015).We investigated the impactof microsatellite instability (MSI) and Epstein–Barr virus (EBV) status in gastric cancer (GC), regarding response to perioperative chemotherapy (POPChT), overall survival (OS), and progression-free survival (PFS). We included 137 cases of operated GC, 51 of which were submitted to POPChT. MSI status was determined by multiplex PCR and EBV status by EBV-encoded RNA in situ hybridization. Thirty-seven (27%) cases presented as MSI-high, and seven (5.1%) were EBV+. Concerning tumor regression after POPChT, no differences were observed between the molecular subtypes, but females were more likely to respond (p = 0.062). No significant differences were found in OS or PFS between different subtypes. In multivariate analysis, age (HR 1.02, IC 95% 1.002–1.056, p = 0.033) and positive lymph nodes (HR 1.82, IC 95% 1.034–3.211, p = 0.038) were the only prognostic factors for OS. However, females with MSI-high tumors treated with POPChT demonstrated a significantly increased OS compared to females with MSS tumors (p = 0.031). In conclusion, we found a high proportion of MSI-high cases. MSI and EBV status did not influence OS or PFS either in patients submitted to POPChT or surgery alone. However, superior survival of females with MSI-high tumors suggests that sex disparities and molecular classification may influence treatment options in GC.publishersversionpublishe

EBV and MSI status in gastric cancer: does it matter?

We investigated the impactof microsatellite instability (MSI) and Epstein–Barr virus (EBV) status in gastric cancer (GC), regarding response to perioperative chemotherapy (POPChT), overall survival (OS), and progression-free survival (PFS). We included 137 cases of operated GC, 51 of which were submitted to POPChT. MSI status was determined by multiplex PCR and EBV status by EBV-encoded RNA in situ hybridization. Thirty-seven (27%) cases presented as MSI-high, and seven (5.1%) were EBV+. Concerning tumor regression after POPChT, no differences were observed between the molecular subtypes, but females were more likely to respond (p = 0.062). No significant differences were found in OS or PFS between different subtypes. In multivariate analysis, age (HR 1.02, IC 95% 1.002–1.056, p = 0.033) and positive lymph nodes (HR 1.82, IC 95% 1.034–3.211, p = 0.038) were the only prognostic factors for OS. However, females with MSI-high tumors treated with POPChT demonstrated a significantly increased OS compared to females with MSS tumors (p = 0.031). In conclusion, we found a high proportion of MSI-high cases. MSI and EBV status did not influence OS or PFS either in patients submitted to POPChT or surgery alone. However, superior survival of females with MSI-high tumors suggests that sex disparities and molecular classification may influence treatment options in GC.info:eu-repo/semantics/publishedVersio

ATIVIDADES MOTORAS COTIDIANAS E SUAS INFLUÊNCIAS NO DESENVOLVIMENTO DE PRÉ-ESCOLARES

Changes in the current social structure might influence the children’s development. However few studies have ivestigated this phenomenon. The objective of this study was to analyse activities of daily living for 38 children between four and six years old that spend full time in the child care center, their interaction with a playful environment and the possibilities of development. The daily life seems to be poor in physically active activities, the child’s day care environment is rigid in its own routine and in the children’s activities. However it was proved that a playful event can provide physically active activities and enrich the environment.Câmbios en la estructura social contemporanea puedem impactar el desarrollo de los niños. Contudo, mui pocos estudios han investigado esto fenomeno. El objetivo del esto estudio fue analisar el cotidiano infanto de 38 ninõs entre cuatro y seis anõs, frequentadores de una escuela donde se quedavam todo el dia, sus interaciones com el medio ambiente e las possibilida desarrollo. El cotidiano muestrase pobre en actividades fisicamente activas, el medio ambiente da creche es rigido y su rotina y em las actividades propias de los niños. Contudo fue demostrado que uno acontecimiento “lúdico” puede propiciar las actividades fisicamente activas y enriquecer el medio ambiente.Mudanças na estrutura social contemporânea podem influenciar o desenvolvimento infantil. Porém, poucos estudos têm investigado este fenômeno. O objetivo deste estudo foi analisar o cotidiano infantil de 38 crianças entre quatro e seis anos, freqüentadoras em tempo integral de uma instituição de ensino, a sua interação com o meio ambiente em atividades lúdicas e as possibilidades de desenvolvimento. O cotidiano mostrou-se pobre em atividades fisicamente ativas, o meio ambiente da creche rígido em sua rotina e inflexível às atividades próprias das crianças. Porém constatou-se que um evento lúdico pode propiciar atividades fisicamente ativas e enriquecer o meio ambiente

Predictors of cardiac involvement in idiopathic inflammatory myopathies

Copyright © 2023 Bandeira, Dourado, Melo, Martins, Fraga, Ferraro, Saraiva, Sousa, Parente, Soares, Correia, Almeida, Dinis, Pinto, Oliveira Pinheiro, Rato, Beirão, Samões, Santos, Mazeda, Chícharo, Faria, Neto, Lourenço, Brites, Rodrigues, Silva-Dinis, Dias, Araújo, Martins, Couto, Valido, Santos, Barreira, Fonseca and Campanilho-Marques. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.Objectives: Idiopathic inflammatory myopathies (IIM) are a group of rare disorders that can affect the heart. This work aimed to find predictors of cardiac involvement in IIM. Methods: Multicenter, open cohort study, including patients registered in the IIM module of the Rheumatic Diseases Portuguese Register (Reuma.pt/Myositis) until January 2022. Patients without cardiac involvement information were excluded. Myo(peri)carditis, dilated cardiomyopathy, conduction abnormalities, and/or premature coronary artery disease were considered. Results: 230 patients were included, 163 (70.9%) of whom were females. Thirteen patients (5.7%) had cardiac involvement. Compared with IIM patients without cardiac involvement, these patients had a lower bilateral manual muscle testing score (MMT) at the peak of muscle weakness [108.0 ± 55.0 vs 147.5 ± 22.0, p=0.008] and more frequently had oesophageal [6/12 (50.0%) vs 33/207 (15.9%), p=0.009] and lung [10/13 (76.9%) vs 68/216 (31.5%), p=0.001] involvements. Anti-SRP antibodies were more commonly identified in patients with cardiac involvement [3/11 (27.3%) vs 9/174 (5.2%), p=0.026]. In the multivariate analysis, positivity for anti-SRP antibodies (OR 104.3, 95% CI: 2.5-4277.8, p=0.014) was a predictor of cardiac involvement, regardless of sex, ethnicity, age at diagnosis, and lung involvement. Sensitivity analysis confirmed these results. Conclusion: Anti-SRP antibodies were predictors of cardiac involvement in our cohort of IIM patients, irrespective of demographical characteristics and lung involvement. We suggest considering frequent screening for heart involvement in anti-SRP-positive IIM patients.info:eu-repo/semantics/publishedVersio

uma análise transversal

Publisher Copyright: Copyright © Ordem dos Médicos 2022.Introduction: Pre-exposure prophylaxis (PrEP) has gained relevance as a method of prevention for HIV in certain people and settings. Following the publication of the guideline on PrEP prescribing in Portugal, we aimed to assess the knowledge of Portuguese Medical Students about PrEP. Material and Methods: An online survey was sent to Medical students of Portuguese Medical Schools. We conducted a descriptive analysis of the results and an analytic cross-sectional study to identify factors associated with “knowing about PrEP”, “having had one class about PrEP” and “identifying eligible groups correctly”. Results: Of the 796 students that responded to the survey, 64.6% were aware of what PrEP is. Of these, 34.44% acquired this knowledge during their training. Out of the total amount of respondents, 4.77% could identify correctly and completely the eligible groups for PrEP. As the training years went by, the probability of being aware of PrEP, having had one class about PrEP, and identifying the eligible groups correctly, increased. Of the sixth-year students, 43.48% had had one class about PrEP and among the students that were aware of PrEP, 28% identified what the eligible groups were. After adjusting for the school year, we found differences between Medical Schools regarding the outcomes. The association between the different ways of knowing about PrEP and the ability to correctly identify eligible groups for PrEP was not statistically significant. Conclusion: The differences between Medical Schools could be harmonized through changes in the medical curricula that would allow for this topic to be addressed more often.publishersversionpublishe

O Papel fundamental da atenção primária na saúde sexual e planejamento familiar das mulheres

OBJECTIVE: To describe the fundamental role of primary care in women's sexual health and family planning. METHOD: It consists of an integrative review, carried out based on the following guiding question: What is the fundamental role of primary care in women's sexual health and family planning? using the PICO strategy, where “p” population: women receiving primary health care, “I” interest: Assessment of the influence of primary health care on women’s sexual health and family planning, and “C” and “O ” context: Impact of primary health care on women’s sexual health and family planning. The filter used for the searches was with the descriptors: “Primary health care”; "Family planning"; “Women’s health”, using the Boolean operator “AND” and “OR”. RESULTS: The final sample consisted of 6 articles, which resulted in 2 categories: Primary care for women's health in Brazil and its emergence; Importance of primary care in women's sexual health and family planning. CONCLUSION: It is understood that the support of the health professional is of great importance when providing care to women. Comprehensive support must be offered to women, welcoming them into Primary Care and resolving all their doubts.OBJETIVO: Descrever o papel o papel fundamental da atenção primária na saúde sexual e planejamento familiar das mulheres. MÉTODO: Consiste numa revisão integrativa, realizada com base na seguinte pergunta norteadora: Qual o papel fundamental da atenção primária na saúde sexual e planejamento familiar das mulheres? sendo utilizado a estratégia PICO, em que “p” população: mulheres atendidas na atenção primária a saúde, “I” interesse: Avaliação da influência da atenção primária à saúde na saúde sexual e planejamento familiar das mulheres, e “C” e “O” contexto: Impacto da atenção primária à saúde na saúde sexual e planejamento familiar das mulheres. O filtro utilizado para as buscas foi com os descritores: “Atenção Primária à saúde”; “Planejamento Familiar”; “Saúde da mulher”, utilizando o operador booleano “AND” e “OR”.  RESULTADOS: A amostra final foi constituída de 6 artigos, que resultaram em 2 categorias: Atenção primária a saúde da mulher no Brasil e seu surgimento; Importância da atenção primária na saúde sexual da mulher e planejamento familiar. CONCLUSÃO: Entende-se que, o apoio do profissional de saúde é de grande importância durante o atendimento a mulher, deve-se oferecer um suporte integral a mulher, acolhê-la na Atenção Básica sanando todas as suas dúvidas