Rare disease landscape in Brazil : report of a successful experience in inborn errors of metabolism

Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seventy five percent of the population depends on SUS, which thus far does not provide adequate coverage for genetic medical procedures. In 2014, SUS introduced the “Policy for the Integral Attention to Subjects with Rare Diseases”, establishing guidelines for offering diagnosis and treatment. The policy defines the two main axes, genetic and non-genetic rare diseases. In this fashion, public genetic services in SUS will be installed and funded not by themselves, but as part of the more general policy of rare diseases. Unfortunately, up to now this policy is still depending on financial allowances to be effectively launched. In this article, our intention was to describe activities developed in the area of inborn errors of metabolism by a Brazilian reference center. In spite of the lack of support of SUS, thousands of Brazilian families affected by rare genetic metabolic disorders, and many health professionals from all regions of Brazil, already have benefited from the services, training programs and research projects provided by this comprehensive center

Efeitos do tratamento com acupuntura em pacientes com fibromialgia– revisão de literatura / Effects of treatment with acupuncture on patients with fibromyalgia - literature review

INTRODUÇÃO:  A fibromialgia (FM) é um tipo de reumatismo não articular dos tecidos moles definido pela presença de dor musculoesquelética crônica e difundida, rigidez de curto prazo, sensação subjetiva de inchaço, fadiga e distúrbios do sono. A respeito disso, a fisioterapia tem demostrado dentre os tratamentos que as terapias alternativas e complementares são muito aplicadas, com uma demanda alcançando a 98% dos portadores FM, sendo ela, a acupuntura que tem como objetivo o equilíbrio do corporal por meio do estímulo em pontos de acúmulo de energia ao longo de linhas corporais conhecidas como meridianos de acupuntura, na visão clássica. Alguns de seus mecanismos de ação, como a analgesia, são comprovados pela medicina ocidental. OBJETIVO: Objetivo geral da pesquisa concretizada foi verificar a eficácia do tratamento da acupuntura em pacientes com fibromialgia. OBJETIVO ESPECIFICO: É evidenciar resultados adquiridos com as terapias de acupuntura. METODOLOGIA:  revisão da literatura com objetivo de buscar estudos que reverenciam sobre os tratamentos da acupuntura em pacientes com fibromialgia. Efetuou-se busca nas principais bases eletrônicas de dados da Biblioteca Virtual em Saúde (BVS), Pub Med e Scielo Critérios de inclusão: estudos que dissertem sobre efeitos do tratamento com Acupuntura em pacientes com fibromialgia publicados entre 1993 até novembro de 2020 e que refreiem as palavras-chave definidas, ensaios clínicos aleatorizados e controlados, e os demais materiais não anexado nas bases de dados como dissertações de mestrado e graduação. Critérios de exclusão: estudos que não estabeleciam acupuntura como abordagem de tratamento. CONCLUSÃO: Perante a seguinte pesquisa se conclui que é eficiente o tratamento com terapia de acupuntura em pacientes com FM, visto que proporciona uma analgesia, relaxamento, diminuindo a dor e melhorando a qualidade do sono e qualidade de vida. Observou-se também que a terapia causa alteração hormonais associado aumente dos níveis de serotonina que resulta na diminuição da dor e aumente da eficácia da técnica

Criteria validity of the Netherlands physical activity questionnaire for children

Physical activity measurement with accuracy and precision is extremely important in establishing the dose-response relationship between levels of physical activity and the different outcome possibilities. Subjective methods of measurement, such as proxy-reports have been used as a possibility to check physical activity in children. The aim of this study was to test the Netherlands Physical Activity Questionnaire (NPAQ), valid for Brazilian schoolchildren using physical aerobic fitness as a criterion. The study included 290 children aged 6-10 years from public schools of Itaúna/MG. NPAQ was applied to parents or guardians and children were tested using the Luc Léger test. NPAQ had mean score of 25 for children (25 for boys and 24 for girls) and VO2max was 50.8 ml/kg/min for children (52.6 and 50.2 ml/kg/min for boys and girls, respectively). The Spearmam correlation test showed significant correlation (rsho = 0.146; p = 0.013) between NPAQ and VO2max, but the correlation is weak (Kappa -0.14). The results showed that NPAQ presented poor construct validity for physical activity measurement in a Brazilian schoolchildren sample, based on aerobic physical fitness criteria

Efeito da reabilitação cardiopulmonar após transplante cardíaco - revisão de literatura/ Effect of cardiopulmonary rehabilitation after heart transplantation - literature review

INTRODUÇÃO: O transplante cardíaco (TC) é considerado um dos avanços mais audaciosos e revolucionários da medicina. O paciente destinado ao transplante é portador de cardiopatia em estágio terminal, com fração de ejeção inferior a 20%.  O procedimento cirúrgico ocasiona reduções dos volumes e capacidades pulmonares, assim como da força muscular respiratória, a reabilitação cardiopulmonar (RCP) propõem como a integração de intervenções não farmacológicas para assegurar as melhores condições físicas, psicológicas e sociais para o paciente com doença cardiovascular e pulmonar. OBJETIVO: Verificar a eficácia do tratamento da reabilitação cardiopulmonar em pacientes após transplante cardíaco. E como objetivo especifico expor resultados adquiridos na RCP, comparando os efeitos dos programas sobre parâmetros hemodinâmicos e capacidade funcional. METODOLOGIA: Foi realizada pesquisas sobre os programas de RCP aplicados aos pacientes submetidos ao TC nas principais bases eletrônica de dados entres elas a Biblioteca Virtual em Saúde (BVS), LILAC’S, PEDro, Pub Med e Scielo. A pesquisa foi executada durante o período de outubro a dezembro 2019 e incluiu artigos compreendidos de 2000 a 2019 Critérios de inclusão: artigos randomizados controlados em pacientes publicados em revistas cientificas com indivíduos selecionados para cirurgia de transplante cardíaco; tipo e duração do protocolo de intervenção, intervenção realizadas no período pós operatório; e os empregos de técnicas de fisioterapia ou reabilitação. Critérios de exclusão: estudos que estabeleciam apenas intervenção pré-operatória, estudos que não abordam técnicas de fisioterapia ou reabilitação física. CONCLUSÃO:  Reabilitação cardiopulmonar para indivíduos submetidos ao transplante cardíaco se mostrou eficiente visto que apresentou a melhora do consumo de oxigênio, diminuição da frequência cardíaca de repouso e melhora da capacidade funcional para que desta forma a inclusão desse paciente nas suas atividades de vida diária, resultando também na diminuição do risco de mortalidade e morbidade cardiovascula

Intervenções fisioterapêuticas na distrofia muscular de duchenne: revisão de literatura / Physiotherapeutic interventions in duchenne muscular dystrophy: literature review

Introdução: A distrofia muscular de duchenne é uma doença genética que causa fraqueza muscular progressiva e leva à paralisia total e à morte súbita nos últimos anos da adolescência ou em adultos jovens. Por volta dos cinco anos de idade, a criança começa a apresentar dificuldade de correr ou saltar, a manobra de Gowers ou manobra do levantar miopático,  é um sinal médico que indica a fraqueza dos músculos proximais, especificamente aqueles do membro inferior, devido à atrofia muscular evidente. A hidroterapia é um recurso que vem crescendo no Brasil e começa a ser aceito como opção de tratamento para Distrofia Muscular Progressivas devido as propriedades físicas da água e a movimentação voluntaria. Objetivo: Esta pesquisa tem como objetivo geral verificar o papel do fisioterapeuta e suas condutas nos pacientes com distrofia muscular de duchenne, fazendo uma análise criteriosa dos protocolos de tratamento que possuem embasamento cientifico. Metodologia: O presente artigo tem como fundamento um levantamento bibliográfico realizado nas principais bases de dados eletrônicas Scielo, Pubmed, foram utilizados um total de 11 artigos. Optou-se por incluir estudos com grande amostragem para verificar seus impactos e quais intervenções fisioterapêuticas na distrofia muscular de duchenne. Resultados: Os achados remetentes aos 11 artigos selecionados para o trabalho em questão, concluiu que a Fisioterapia obteve-se um retardo da doença, e prevenção de complicações secundárias. Conclusão: Diante do presente estudo, se conclui que é fundamental a importância do fisioterapeuta na vida do paciente com DMD, pois retarda a evolução da doença e traz mais qualidade de vida para o paciente. 

Coinfection with Different Trypanosoma cruzi Strains Interferes with the Host Immune Response to Infection

A century after the discovery of Trypanosoma cruzi in a child living in Lassance, Minas Gerais, Brazil in 1909, many uncertainties remain with respect to factors determining the pathogenesis of Chagas disease (CD). Herein, we simultaneously investigate the contribution of both host and parasite factors during acute phase of infection in BALB/c mice infected with the JG and/or CL Brener T. cruzi strains. JG single infected mice presented reduced parasitemia and heart parasitism, no mortality, levels of pro-inflammatory mediators (TNF-α, CCL2, IL-6 and IFN-γ) similar to those found among naïve animals and no clinical manifestations of disease. On the other hand, CL Brener single infected mice presented higher parasitemia and heart parasitism, as well as an increased systemic release of pro-inflammatory mediators and higher mortality probably due to a toxic shock-like systemic inflammatory response. Interestingly, coinfection with JG and CL Brener strains resulted in intermediate parasitemia, heart parasitism and mortality. This was accompanied by an increase in the systemic release of IL-10 with a parallel increase in the number of MAC-3+ and CD4+ T spleen cells expressing IL-10. Therefore, the endogenous production of IL-10 elicited by coinfection seems to be crucial to counterregulate the potentially lethal effects triggered by systemic release of pro-inflammatory mediators induced by CL Brener single infection. In conclusion, our results suggest that the composition of the infecting parasite population plays a role in the host response to T. cruzi in determining the severity of the disease in experimentally infected BALB/c mice. The combination of JG and CL Brener was able to trigger both protective inflammatory immunity and regulatory immune mechanisms that attenuate damage caused by inflammation and disease severity in BALB/c mice

The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability

Chromobacterium violaceum is one of millions of species of free-living microorganisms that populate the soil and water in the extant areas of tropical biodiversity around the world. Its complete genome sequence reveals (i) extensive alternative pathways for energy generation, (ii) ≈500 ORFs for transport-related proteins, (iii) complex and extensive systems for stress adaptation and motility, and (iv) wide-spread utilization of quorum sensing for control of inducible systems, all of which underpin the versatility and adaptability of the organism. The genome also contains extensive but incomplete arrays of ORFs coding for proteins associated with mammalian pathogenicity, possibly involved in the occasional but often fatal cases of human C. violaceum infection. There is, in addition, a series of previously unknown but important enzymes and secondary metabolites including paraquat-inducible proteins, drug and heavy-metal-resistance proteins, multiple chitinases, and proteins for the detoxification of xenobiotics that may have biotechnological applications

Penilaian Kinerja Keuangan Koperasi di Kabupaten Pelalawan

This paper describe development and financial performance of cooperative in District Pelalawan among 2007 - 2008. Studies on primary and secondary cooperative in 12 sub-districts. Method in this stady use performance measuring of productivity, efficiency, growth, liquidity, and solvability of cooperative. Productivity of cooperative in Pelalawan was highly but efficiency still low. Profit and income were highly, even liquidity of cooperative very high, and solvability was good

Differential cross section measurements for the production of a W boson in association with jets in proton–proton collisions at √s = 7 TeV

Measurements are reported of differential cross sections for the production of a W boson, which decays into a muon and a neutrino, in association with jets, as a function of several variables, including the transverse momenta (pT) and pseudorapidities of the four leading jets, the scalar sum of jet transverse momenta (HT), and the difference in azimuthal angle between the directions of each jet and the muon. The data sample of pp collisions at a centre-of-mass energy of 7 TeV was collected with the CMS detector at the LHC and corresponds to an integrated luminosity of 5.0 fb[superscript −1]. The measured cross sections are compared to predictions from Monte Carlo generators, MadGraph + pythia and sherpa, and to next-to-leading-order calculations from BlackHat + sherpa. The differential cross sections are found to be in agreement with the predictions, apart from the pT distributions of the leading jets at high pT values, the distributions of the HT at high-HT and low jet multiplicity, and the distribution of the difference in azimuthal angle between the leading jet and the muon at low values.United States. Dept. of EnergyNational Science Foundation (U.S.)Alfred P. Sloan Foundatio

Juxtaposing BTE and ATE – on the role of the European insurance industry in funding civil litigation

One of the ways in which legal services are financed, and indeed shaped, is through private insurance arrangement. Two contrasting types of legal expenses insurance contracts (LEI) seem to dominate in Europe: before the event (BTE) and after the event (ATE) legal expenses insurance. Notwithstanding institutional differences between different legal systems, BTE and ATE insurance arrangements may be instrumental if government policy is geared towards strengthening a market-oriented system of financing access to justice for individuals and business. At the same time, emphasizing the role of a private industry as a keeper of the gates to justice raises issues of accountability and transparency, not readily reconcilable with demands of competition. Moreover, multiple actors (clients, lawyers, courts, insurers) are involved, causing behavioural dynamics which are not easily predicted or influenced. Against this background, this paper looks into BTE and ATE arrangements by analysing the particularities of BTE and ATE arrangements currently available in some European jurisdictions and by painting a picture of their respective markets and legal contexts. This allows for some reflection on the performance of BTE and ATE providers as both financiers and keepers. Two issues emerge from the analysis that are worthy of some further reflection. Firstly, there is the problematic long-term sustainability of some ATE products. Secondly, the challenges faced by policymakers that would like to nudge consumers into voluntarily taking out BTE LEI