Venous thrombosis in children

The incidence of deep venous thrombosis (DVT) in children (0-18 years old) is low. The aim of this study was to investigate the case of a 12 year-old child that had DVT after a trauma. Protein C and protein S activities, antithrombin and resistance to activated protein C were analyzed in coagulometer. Factor V Leiden (FVL) was studied. The patient and his father were heterozygotes for FVL. His mother was normal homozygote. We concluded that the presence of FVL associated with other medical conditions tends to multiply the occurrence of thrombosis, which is a multifactorial disease.A incidência de trombose venosa profunda (TVP) em crianças (0 a 18 anos) é baixa. O objetivo desse trabalho é estudar uma criança de 12 anos que, após um trauma, apresentou TVP. Atividades de proteína C, proteína S, antitrombina e resistência à proteína C ativada (RPCA) foram analisadas em coagulômetro. O fator V de Leiden (FVL) foi pesquisado. O paciente e seu pai (assintomático até o momento) foram heterozigotos para FVL e sua mãe foi homozigota normal. Concluímos que o FVL associado a outras condições clínicas tende a ser multiplicativo para a ocorrência de trombose, que é multifatorial.Fundação de Hematologia e Hemoterapia de PernambucoUniversidade Federal de São Paulo (UNIFESP)UFPEUFPE Departamento de BioquímicaUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de CirurgiaUNIFESP, EPM, Depto. de CirurgiaSciEL

Postura e carga de peso podal em crianças com o uso de aparelhos ortodônticos ou ortopédicos funcionais dos maxilares: um estudo longitudinal / Foot posture and weight load in children using functional orthodontic or orthopedic jaw braces: a longitudinal study

Esta pesquisa teve o objetivo geral de verificar a postura e carga de peso podal de crianças, com o uso de aparelhos ortodônticos ou ortopédicos funcionais dos maxilares, em controle de seis meses após a instalação dos mesmos. Representou um estudo longitudinal prospectivo, com a sequência do acompanhamento efetuado imediatamente após a instalação dos recursos terapêuticos em questão, a partir de pacientes oriundos do Ambulatório de Pediatria da Universidade Federal de Pernambuco, na cidade do Recife, Estado de Pernambuco, Brasil. A amostra compreendeu 34 crianças, 79,4% com 11 anos de idade, 61.8% do sexo masculino, 64.7% com um lado de preferência mastigatória, na maioria o esquerdo, à época do exame inicial. Todas as crianças com deslocamento do centro de pressão e alterações posturais apresentavam médias de atividade elétrica muscular de repouso do esternocleidomastoideo, fibras superiores do trapézio e tibial anterior diferentes em relação às sem essa condição. Não se constataram diferenças significantes logo após a instalação dos aparelhos, mas no controle de seis meses após, nos pacientes portadores de má oclusão do tipo Classe II de Angle (p<0.01), com redução do impulso e da transferência do peso. 

Efeitos da utilização da reabilitação virtual nas alterações posturais de indivíduos idosos / Effects of using virtual rehabilitation on postural changes in elderly individuals

Objetivo: Analisar o efeito da utilização da realidade virtual nas alterações posturais de indivíduos idosos sedentários. Métodos: Trata-se de um estudo observacional, descritivo de corte transversal. Inicialmente foi realizada uma palestra sobre o estudo e assinatura do Termo de Consentimento Livre e Esclarecido pelos participantes. Em seguida aplicou-se o questionário socioclínico; avaliação postural na vista anterior, posterior e lateral; e, análise da descarga de peso utilizando a plataforma do Nintendo Wii antes e após intervenção. Na Intervenção utilizou-se o X-box, 5 sessões de 30min cada. Resultados: A amostra foi composta de 20 idosos, predominância feminina (80%), média de idade 65,9 ± 5,4 anos e Índice de Massa Corpórea (IMC) de 26,8 Kg/m2 (sobrepeso). As principais alterações posturais encontradas foram: Anteversão pélvica (85%), joelhos valgos (80%), ombros protusos (85%) e assimétricos (90%), e cabeça anteriorizada (80%). Após a RV houve correções positivas significantes (p<0,01). A proporção de descarga de peso melhorou, onde no membro direito a média antes era 52,9±7,9 e após passou foi 51,5±5,2; e, no membro inferior esquerdo o valor era 47,5±7,3 passando a 48,4±5,2. Conclusão: A RV demonstrou ser uma abordagem eficaz dentro do arsenal fisioterapêutico para a prevenção e correção de alterações posturais causadas pelo envelhecimento, por utilizar-se além de um espaço lúdico e dinâmico, promove bem-estar e prazer

Correlations between Risk Factors for Breast Cancer and Genetic Instability in Cancer Patients- A Clinical Perspective Study

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) or licensor 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.Molecular epidemiological studies have identified several risk factors linking to the genes and external factors in the pathogenesis of breast cancer. In this sense, genetic instability caused by DNA damage and DNA repair inefficiencies are important molecular events for the diagnosis and prognosis of therapies. Therefore, the objective of this study was to analyze correlation between sociocultural, occupational, and lifestyle risk factors with levels of genetic instability in non-neoplastic cells of breast cancer patients. Total 150 individuals were included in the study that included 50 breast cancer patients submitted to chemotherapy (QT), 50 breast cancer patients submitted to radiotherapy (RT), and 50 healthy women without any cancer. Cytogenetic biomarkers for apoptosis and DNA damage were evaluated in samples of buccal epithelial and peripheral blood cells through micronuclei and comet assay tests. Elder age patients (61–80 years) had higher levels of apoptosis (catriolysis by karyolysis) and DNA damage at the diagnosis (baseline damage) with increased cell damage during QT and especially during RT. We also reported the increased frequencies of cytogenetic biomarkers in patients who were exposed to ionizing radiation as well as for alcoholism and smoking. QT and RT induced high levels of fragmentation (karyorrhexis) and nuclear dissolution (karyolysis) and DNA damage. Correlations were observed between age and karyorrhexis at diagnosis; smoking and karyolysis during RT; and radiation and karyolysis during QT. These correlations indicate that risk factors may also influence the genetic instability in non-neoplastic cells caused to the patients during cancer therapies

SARS-CoV-2 introductions and early dynamics of the epidemic in Portugal

Genomic surveillance of SARS-CoV-2 in Portugal was rapidly implemented by the National Institute of Health in the early stages of the COVID-19 epidemic, in collaboration with more than 50 laboratories distributed nationwide. Methods By applying recent phylodynamic models that allow integration of individual-based travel history, we reconstructed and characterized the spatio-temporal dynamics of SARSCoV-2 introductions and early dissemination in Portugal. Results We detected at least 277 independent SARS-CoV-2 introductions, mostly from European countries (namely the United Kingdom, Spain, France, Italy, and Switzerland), which were consistent with the countries with the highest connectivity with Portugal. Although most introductions were estimated to have occurred during early March 2020, it is likely that SARS-CoV-2 was silently circulating in Portugal throughout February, before the first cases were confirmed. Conclusions Here we conclude that the earlier implementation of measures could have minimized the number of introductions and subsequent virus expansion in Portugal. This study lays the foundation for genomic epidemiology of SARS-CoV-2 in Portugal, and highlights the need for systematic and geographically-representative genomic surveillance.We gratefully acknowledge to Sara Hill and Nuno Faria (University of Oxford) and Joshua Quick and Nick Loman (University of Birmingham) for kindly providing us with the initial sets of Artic Network primers for NGS; Rafael Mamede (MRamirez team, IMM, Lisbon) for developing and sharing a bioinformatics script for sequence curation (https://github.com/rfm-targa/BioinfUtils); Philippe Lemey (KU Leuven) for providing guidance on the implementation of the phylodynamic models; Joshua L. Cherry (National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health) for providing guidance with the subsampling strategies; and all authors, originating and submitting laboratories who have contributed genome data on GISAID (https://www.gisaid.org/) on which part of this research is based. The opinions expressed in this article are those of the authors and do not reflect the view of the National Institutes of Health, the Department of Health and Human Services, or the United States government. This study is co-funded by Fundação para a Ciência e Tecnologia and Agência de Investigação Clínica e Inovação Biomédica (234_596874175) on behalf of the Research 4 COVID-19 call. Some infrastructural resources used in this study come from the GenomePT project (POCI-01-0145-FEDER-022184), supported by COMPETE 2020 - Operational Programme for Competitiveness and Internationalisation (POCI), Lisboa Portugal Regional Operational Programme (Lisboa2020), Algarve Portugal Regional Operational Programme (CRESC Algarve2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF), and by Fundação para a Ciência e a Tecnologia (FCT).info:eu-repo/semantics/publishedVersio

Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report

Abstract Background Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene. The diagnosis is challenging due to the nonspecific signs and symptoms, as well as the rarity of the disease. Case presentation We present an unusual case of a 20-year-old feoderm woman from northeast region of Brazil who manifested thrombocytopenia during her pregnancy which was believed to be immune thrombocytopenic purpura. Conclusions Considering the importance of a differential diagnosis of thrombotic microangiopathic disorders, congenital thrombotic thrombocytopenic purpura may mimic the signs and symptoms of pre-eclampsia/eclampsia, hemolysis with elevated liver enzymes and low platelet count syndrome, and atypical hemolytic-uremic syndrome. It should be considered in suspect cases in patients with an ADAMTS13 activity at 5% without ADAMTS13 antibodies