Competências do fisioterapeuta no processo de interação com o paciente: proposta de um instrumento de avaliação

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia de Produção.A dimensão das dificuldades que envolvem o processo de interação fisioterapeuta-paciente exige uma avaliação crítica dos aspectos que constituem as competências envolvidas nesse processo. Especula-se que parte das dificuldades encontradas no exercício profissional dos fisioterapeutas estão relacionada ao menor aprofundamento científico sobre um dos seus principais objetos de trabalho - o processo de interação com o paciente para fins de diagnóstico, tratamento e prevenção de patologias. A importância do profissional em perceber quais comportamentos são competentes na interação com o paciente significa desenvolver a capacidade de integrar comportamentos para realizar tarefas e produzir resultados valorizados em determinado contexto e cultura, fundamentando-se que as competências são mais ou menos valorizadas conforme a natureza das expectativas entre indivíduos. Método: Constituiu-se, de natureza descritiva-exploratória. No estudo o material de pesquisa constituía-se de duas tabelas contendo definições e comportamentos atribuídos ao processo de interação fisioterapeuta-paciente. O material foi remetido para 60 profissionais especialistas (em psicometria e fisioterapia) selecionados aleatoriamente. Dos quais se obteve 20% de devolutiva do material enviado. Resultados: A priori levantou-se um questão inerente ao trabalho do fisioterapeuta porém que pouco se discute. Como resultado obteve-se validação do construto teórico entre as dimensões que compõe o processo de interação fisioterapeuta-paciente e os comportamentos referentes a tais dimensões. Obtido por um nível de concordância entre os atributos comportamentais das competências o que resultou em um instrumento de avaliação de tais competências, proposto ao fim deste estudo

Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”

In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this variant is 17.6% of alleles in Korean patients. This commentary stresses the importance of proper variant annotation and the use of guidelines when describing or reviewing mutations

Produção e caracterização de membranas pelo método de inversão de fases

Orientador: Prof. Dr. Marcelo Kaminski LenziCoorientador: Prof. Dr. Daniel EirasDissertação (mestrado) - Universidade Federal do Paraná, Setor de Tecnologia, Programa de Pós-Graduação em Engenharia Química. Defesa : Curitiba, 16/12/2019Inclui referênciasResumo: Este trabalho visa estudar a influência de variáveis de processo nas propriedades de membranas assimétricas produzidas pelo método de inversão de fases. Para o estudo foi realizado um tratamento estatístico baseado no método Box- Behnken de forma a limitar o número de variáveis estudadas e também o número de experimentos. As variáveis estudadas foram a concentração de polímero (polisulfona), a coencentração do aditivo não-solvente (água) na solução polimérica e o tempo de imersão no banho coagulante numa temperatura de 40°C. As membranas foram preparadas através do método de inversão de fases, combinando os processo de inversão de via úmida e de inversão por vapor de água. Após serem espalhadas sobre uma placa de vidro (suporte) as membranas foram colocadas em uma estufa com atmosfera de vapor de água com umidade relativa entre 45 a 60% por 5 minutos e depois foram imersas no banho de coagulação. As análises de microscopia eletrônica de varredura indicaram que a maior parte das membranas apresentam uma camada densa muito fina suportada por uma camada porosa com estrutura predominantemente esponjosa. Utilizando a análise estatística apresentado por Box- Behnken observou-se que os três parâmetros escolhidos para o estudo não são os únicos a influenciarem as propriedades de fluxo através da membrana, mas ainda sim apresentam grande impacto. A análise estatística permitiu a obtenção de uma relação matemática entre o fluxo de vapor de água e as variáveis estudadas. Com pouco tempo de residência no banho coagulante (10 minutos), maiores concentrações de água (5% v/v) e menores concentrações de polímero (15% m/v) observou-se fluxo de vapor de água (WVT) de aproximadamente 1,80 x 10^-2(g/cm^2 x s), e com maiores tempo de residência no banho coagulante (60 minutos) o mesmo valor de WVT é alcançado na concentração de 35% m/v de polímero e isenção de água. Observa-se a existência de um ponto de transição no comportamento da propriedade estudada com relação aos parâmetros escolhidos. A analise Box-Behnken se mostrou eficiente na correlação entre as variáveis, porém uma correlação mais completa necessitaria de mais dados experimentais envolvendo outras variáveis.Abstract: The aim of this work was to investigate the effect of process variables in the morphology and water vapor transport of asymmetric membranes. In order to reduce the number of variables and experiments to be evaluated, the Box-Behnken analysis was applied. The variables that were evaluated were the polymer concentration in the solution, the water concentration in the solution and the time of immersion in the coagulation bath. The membranes were produced by the phase inversion method combining the wet phase inversion with vapor induced phase inversion. After casting the solution, the membranes were placed in an oven with a controlled water vapor atmosphere with relative humidity between 45 and 60% for five minutes followed by immersion in the coagulation bath. Scanning electron microscopy analysis revealed that all membranes had very thin skin layer supported by a porous layer that was predominantly formed by hexagonal sponge like pores. The statistical analysis indicates that the studied variables are not the only variables that influence the properties of the membranes even though they strongly influence the morphology and the water vapor transmission (WVT). Box-Behnken analysis resulted in mathematical relationship between the three variables and the WVT. With short immersion periods (10 minutes), high water concentrations (5 v/v%) and small polymer concentrations (15 wt/v.%) the WVT was approximately 1.80 x10^-2(g/cm^2 x s). For longer residence time (60 minutes), high polymer concentration (35 wt/v.%) and no water the WVT was the same. A transition point was observed in the surfaces correlating polymer concentration and additive concentration in the solution. The Box-Behnken analysis was successful in establishing a mathematical relationship between the process variables but in order to obtain a better relationship more experiments involving additional variables would be necessary

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available treatments do not completely correct cardiac involvement in the LSDs. Gene therapy has been tested as a therapeutic alternative with promising results for the heart disease. In this review, we present the results of different approaches of gene therapy for LSDs, mainly in animal models, and its effects in the heart, focusing on protocols with cardiac functional analysis

The challenges of organizing an international course in Latin America

The Latin American School of Human and Medical Genetics (ELAG) is the main course of its kind in the genetics field in Latin America. Here we describe the main challenges regarding the organization of such event, including how we obtain funding and how we proceed with student selection. Thus, we aim to share our experience with other groups that intend to follow this format to create similar events in other areas in this region of the worl

Long-term restoration of alpha-L-iduronidase activity in fibroblasts from patients with mucopolysaccharidosis type I after non-viral gene transfer

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha-L-iduronidase (IDUA). Limitations such as need of weekly injection, high morbidity and mortality  and high cost of the current treatments show the need for new approaches to treat this disease. In this work we aimed to correct fibroblasts from a MPS I patient using non-viral gene therapy. Using a plasmid encoding the human IDUA cDNA, we achieved stable high IDUA levels in transfected fibroblasts up to 6 months of treatment. These results serve as proof-of concept that a non-viral approach can correct the enzyme deficiency in cells from lysosomal storage disorders patients, which can be used as a tool for research a series of disease aspects. Future studies will focus on verify if this approach can be useful in small animals and clinical trials

Progression of cardiovascular manifestations in adults and children with mucopolysaccharidoses with and without enzyme replacement therapy

Background: Cardiovascular involvement is among the main features of MPS disorders and it is also a significant cause of morbidity and mortality. The range of manifestations includes cardiac valve disease, conduction abnormalities, left ventricular hypertrophy, and coronary artery disease. Here, we assessed the cardiovascular manifestations in a cohort of children and adults with MPS I, II, IV, and VI, as well as the impact of enzyme replacement therapy (ERT) on those manifestations. Methods: We performed a chart review of 53 children and 23 adults with different types of MPS that had performed echocardiograms from January 2000 until October 2018. Standardized Z scores were obtained for heart chamber sizes according to the body surface area. When available, echocardiographic measurements that were performed before ERT and at least 18 months after that date were used for the assessment of pre- and post-treatment parameters. Results: Left side valvular disease was a frequent finding, with mitral and aortic thickening being reported in most patients in all four MPS types. Left atrium dilatation was present in 26% of the patients; 25% had increased relative wall thickness; 28% had pulmonary hypertension. The cardiovascular involvement was, in general, more prevalent and more severe in adults than in children, including conduction disorders (40 vs. 16%), mitral stenosis (26 vs. 6%), aortic stenosis (13 vs. 4%), and systolic dysfunction (observed in only one adult patient). ERT promoted a significant reduction of the left ventricular hypertrophy parameters, but failed to improve valve abnormalities, pulmonary hypertension, and left atrial dilatation. Conclusions: Adult patients with MPS may develop severe cardiovascular involvement, not commonly observed in children, and clinicians should be aware of the need for careful monitoring and timely management of those potentially life-threatening complications. Our results also confirm the impact of long-term ERT on left ventricular hypertrophy and its limitations in reversing other prevalent cardiovascular manifestations

Precision medicine for lysosomal disorders

Precision medicine (PM) is an emerging approach for disease treatment and preventionthat accounts for the individual variability in the genes, environment, and lifestyle of each person.Lysosomal diseases (LDs) are a group of genetic metabolic disorders that include approximately70 monogenic conditions caused by a defect in lysosomal function. LDs may result from primarylysosomal enzyme deficiencies or impairments in membrane-associated proteins, lysosomal enzymeactivators, or modifiers that affect lysosomal function. LDs are heterogeneous disorders, and thephenotype of the affected individual depends on the type of substrate and where it accumulates,which may be impacted by the type of genetic change and residual enzymatic activity. LDs areindividually rare, with a combined incidence of approximately 1:4000 individuals. Specific therapiesare already available for several LDs, and many more are in development. Early identification mayenable disease course prediction and a specific intervention, which is very important for clinicaloutcome. Driven by advances in omics technology, PM aims to provide the most appropriatemanagement for each patient based on the disease susceptibility or treatment response predictionsfor specific subgroups. In this review, we focused on the emerging diagnostic technologies that mayhelp to optimize the management of each LD patient and the therapeutic options available, as well asin clinical developments that enable customized approaches to be selected for each subject, accordingto the principles of PM