Diss. (sammanfattning) Stockholm : Karol. inst., 2005. / Härtill 4 uppsatser.

Diss. (sammanfattning) Stockholm : Karolinska institutet, 2006. / Härtill 4 uppsatser.

Submitted in partial compliance with the requirements for the Master’s Degree in Technology: Chiropractic, Durban University of Technology, 2014. / Aim: To determine the effect of long axis manipulation of the third metacarpophalangeal joint (MCP) on articular surface separation, peri-articular soft tissue movement and joint cavitation. Participants: Forty two right-handed healthy individuals between 18 and 28 years of age from the Durban University of Technology campuses, KwaZulu Natal. Methodology: Written informed consent was obtained from each participant. A case history, physical examination and a hand and wrist orthopaedic assessment was conducted for each participant. Study specific data, such as sex, age, height and weight were recorded. A diagnostic ultrasound (US) scan was done to the left third MCP joint for each participant while distractive manipulation was applied to the joint. The presence or absence of audible release was noted and the tension levels applied to the joint was measured with a digital tension meter. Joint surface separation (JSS), synovial membrane position (SMP), gas bubble presence and location were assessed on the US recordings at baseline, just prior to cavitation, at maximum traction and in the post-traction resting joint. IBM SPSS version 20 was used to analyse the data. Independent sample t-tests were used to compare the means between the two groups and the associations were compared using Pearson’s chi square tests. A p value <0.05 was considered as statistically significant. Results: Long axis manipulation resulted in audible release in 22 of the participants (Group and no audible release in 20 of the participants (Group 2). No significant difference in joint surface separation or the synovial membrane position could be established between MCP joints that cavitated and MCP joints that did not cavitate at the baseline, as well as in maximum traction and in the post-procedure resting joint (p > 0.05; t-test). Hyperechoic gas bubbles were present in 21 of the 22 participants of Group 1 and no gas bubbles could be visualised in the participants in Group 2. The presence of intra-articular hyperechoic gas bubbles was highly associated with audible release (p < 0.001; Pearson’s chi square test). Due to the predefined features of cavitation, gas bubble inception was could not be detected in the Group 1 participants prior to cavitation. In Group 1, 95.5% of the gas bubbles were present in the middle third of the joint at maximum traction. At the post traction resting joint evaluation, no gas bubble was evident in 42.9% (n = 9) of the joints; 42.9% (n = 9) indicated bubbles were present only in the dorsal third, whilst 9.5% (n = 2) presented bubbles in the middle and dorsal third; and in one case gas bubbles were seen in the dorsal, middle and ventral thirds of the joint space. The mean manipulative force recorded in participants in which gas bubble inception took place during manipulation was 5.7 kg, and in those with no gas bubble inception was 12 kg. There was a significant difference between the mean traction force applied to those with and to those without a gas bubble appearance (p < 0.001; t-test). Conclusion: No significant differences were observed between the cavitation and non-cavitation groups for the joint surface separation and synovial membrane movement at various stages of manipulation. A significant association was established between the audible release of a joint that was manipulated and the appearance of intra-articular gas bubbles or micro-bubbles. The mean traction force that was required to cause cavitation was significantly lower than the force to which joints with no cavitation were tensioned. The findings concur with those of previous studies that cavitation is a necessary component of joint manipulation.

Rheumatoid arthritis (RA) is an autoimmune disease affecting nearly 1% of the world’s population with symptoms such as inflammation, pain, and reduced strength [1]. Physicians and scientists work to develop pharmaceuticals and medical devices aimed at decreasing the symptoms associated with RA to better the lives of those affected. One of the most recent developments is the addition of thermal therapy gloves to the array of upper limb orthoses available to patients with RA. It was hypothesized that this study will show that orthoses in the form of thermal therapy gloves are beneficial to the patients by reducing symptoms such as pain and allowing them an increased range of motion and overall hand functionality. Patients in stage 2 were recruited and asked to first complete a personal history survey including the Health Assessment Questionnaire (HAQ) [2] and Pain Catastrophizing Scale (PCS) [3]. Range of motion tasks and the Arthritis Hand Function Test (AHFT) [4] were completed to determine the effect of two thermal therapy gloves on the range of motion and activities of daily living. The data suggests that the use of thermal therapy orthoses does provide a psychological advantage in the form of reduced perceived pain along with the advantage of being able to complete activities previously believed to be impossible for participants to complete. Additionally, it is suggested that heat-generating material be used in the manufacturing of these orthoses in order to remove the need for any further design modifications. Future studies should be conducted in order to analyze the long-term effects of these orthoses along with the possible psychological benefits of their use.

Introdução: As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela atividade deficiente de enzimas lisossômicas que afetam o catabolismo de glicosaminoglicanos, o que leva ao seu acúmulo no organismo e a um quadro clínico multisistêmico. As manifestações clínicas geram limitações nas tarefas cotidianas. Objetivos: Avaliar a capacidade funcional e a amplitude de movimento articular (ADM), e o efeito da Terapia de Reposição Enzimática (TRE) em ambas as variáveis, em um grupo de pacientes com MPS acompanhados por um centro de referência em doenças lisossômicas do Hospital de Clínicas de Porto Alegre, Brasil. Métodos: Estudo prospectivo, longitudinal, com amostragem por conveniência. Utilizou-se o Pediatric Evaluation of Disability Inventory (PEDI) e a Medida de Independência Funcional (MIF) para avaliar funcionalidade, e a goniometria para avaliar ADM. Foram realizadas três avaliações em 0, 6 e 12 meses após inclusão no estudo (Momento 1, Momento 2 e Momento 3). Para fins de análise, os pacientes foram divididos em rês grupos: Grupo 1: pacientes sem TRE; Grupo 2: pacientes em TRE antes e após inclusão no estudo; Grupo 3: pacientes em TRE após inclusão no estudo. Resultados: 21 pacientes foram incluídos: Grupo 1=7 (MPS II, MPS III-B, MPS IV-A); Grupo 2=6 (MPS I; MPS IV) e Grupo 3=8 (MPS I, MPS II, VI), mediana de idade de 10,5 anos, 18,5 anos e 2 anos; e intervalo interquartil de 9-14,5 anos, 11,5-21,75 anos e 1,5-5 anos, respectivamente. Não houve diferença estatisticamente significativa entre os grupos para ADM. Encontrou-se diferença para a área de autocuidado do PEDI para o Grupo 3 (p=0,05), a melhora clínica na ADM foi observada somente para este grupo. No teste MIF o Grupo 2 apresentou melhores escores em todos os domínios avaliados. Houve correlação positiva entre a área de autocuidado do PEDI e flexão de punho (r=,718). Discussão/Conclusão: A TRE parece promover a manutenção da ADM e funcionalidade. No entanto, é difícil avaliar se isso decorre da TRE, da melhora clínica geral proporcionada pelo tratamento, ou da combinação destes fatores. A preservação da funcionalidade é um desafio no tratamento clínico destes pacientes e a manutenção do desempenho ocupacional deve ser definida como objetivo a ser alcançado. / Introduction: The mucopolysaccharidoses (MPS) are rare genetic disorders caused by a deficiency in lysosomal enzymes that affect the catabolism of glycosaminoglycans and cause their accumulation, resulting in a multisystemic clinical picture. Their clinical manifestations result in limitations to perform daily life tasks. Objectives: To evaluate functional capacity, joint range of motion (ROM), and the effect of enzyme replacement therapy (ERT) in both variables in patients with MPS followed at the reference center for lysosomal disorders at Hospital de Clínicas de Porto Alegre, Brazil. Methods: The present was a prospective, longitudinal study with convenience samples. The Pediatric Evaluation of Disability Inventory (PEDI) and the Functional Independence Measure (FIM) were used to evaluate functionality, and goniometry was used to evaluate ROM, at three moments (study allocation, and 6 and 12 months after study inclusion). For the analysis, three groups were formed, as follows: Group 1 (patients without ERT); Group 2 (patients on ERT before and after study inclusion), and Group 3 (patients that initiated ERT after study inclusion). Results: 21 patients were included: 7 in Group 1 (MPS II: 3, MPS III-B: 2, MPS IV-A: 2); 6 in Group 2 (MPS I: 3; MPS VI: 3), and 8 in Group 3 (MPS I: 3, MPS II: 4, MPS VI: 1). A statistically significant difference was found in the area of self-care of the PEDI for Group 3 (p=0,05), and clinical improvement in ROM was seen only in Group 3. Group 2 showed higher scores in all domains evaluated by the FIM. No statistically significant difference was found between the groups for ROM in the three moments evaluated. There was a positive correlation between the area of self-care of the PEDI and wrist flexion (r=0.718). Discussion/Conclusion: ERT seems to promote maintenance of ROM and functionality. However, it is difficult to evaluate whether or not this is due to ERT, to the general clinical improvement resulting from the treatment, or the combination of both. The preservation of functionality is an increasing challenge in the treatment of these patients, and maintenance of occupational performance should be defined as an objective to be reached by therapies used.

Introdução: após um longo período voltado para a correção das insuficiências do LCA, a lesão de maior incidência no futebol, a comunidade ortopédica concluiu que o comportamento da biomecânica articular dos indivíduos difere muito e, portanto, começou a pesquisar fatores antropomórficos que pudessem contribuir com os eventos traumáticos do joelho, especialmente, aqueles originados por fatores intrínsecos. Entre estes, destaca-se a restrição articular rotacional do quadril, que pode ser oriunda de compensações musculoesqueléticas adquiridas com treinamento continuado do futebol desde a infância. Assim, a investigação de tais alterações deveria figurar como elemento fundamental na promoção de saúde de jovens atletas. Objetivo: o objetivo deste estudo foi verificar a restrição articular rotacional do quadril e a influência do alongamento no comportamento desta articulação, em jogadores de futebol de categorias de base do Sport Club Internacional de Porto Alegre, RS, Brasil. Materiais e Métodos: foram avaliados os graus de RI e RE do quadril de 262 jogadores do sexo masculino, com idades entre 9 e 19 anos. O grupo foi randomizado em dois subgrupos: controle e alongamento específico, e reavaliados após doze semanas. A Análise de Variância (ANOVA) one-way e two-way para medidas repetidas foi aplicada para analisar as diferenças intra e intergrupos, complementada por testes t-student, considerando p0,05 para significância estatística. Resultados: os resultados mostraram redução na ADM rotacional do quadril destes atletas, com o passar dos anos de prática frequente do futebol. Foi possível também verificar que houve melhora da ADM de rotação externa do quadril no grupo alongamento, no membro não dominante. Conclusão: constatou-se que a prática do futebol pode ser um fator desencadeante da restrição articular rotacional do quadril, e que a prática de alongamentos específicos pode amenizar a situação retrátil, nociva, do quadril nos jogadores de futebol. / Context: After years of focusing on the management of anterior cruciate ligament (ACL) injuries, the most common soccer-related injuries, the orthopedic community has concluded that soccer players have a wide range of variation in joint biomechanics and has thus started to focus research efforts on the morphological factors that might contribute to A CL trauma. One such factor is decreased hip rotation range of motion (ROM), which may be due to compensatory musculoskeletal changes occurring in response to longstanding soccer practice since childhood. Therefore, investigating these changes became a key element to the promotion of young athletes' health. Objective: This study sought to assess decreased hip rotation and the influence of stretching exercises on the behavior of the hip joint in players of the youth soccer sectors of a Brazilian soccer team. Design: Randomized clinical trial. Setting: University hospital. Patients: 262 male soccer players. Interventions: Subjects were randomly allocated into two groups – control or a stretching program. Main outcome measures: Subjects were reassessed after 12 weeks. Results: Our findings suggest that hip rotation ROM decreases over the years in soccer players. In our sample, adherence to a stretching program improved external hip rotation ROM in the non -dominant limb. Conclusion: We conclude that playing soccer can restrict rotation ROM of the hip, and that adherence to stretching can mitigate the harmful effects on the hip joint.

O objetivo deste estudo foi comparar as adaptações neuromusculares e morfológicas de treinamentos de força realizados com amplitudes parcial e total de movimento nos músculos flexores de cotovelo e extensores de joelho. Participaram do estudo 41 voluntários do sexo masculino destreinados em força (23,78 ± 3,27 anos), divididos em três grupos: PS-TI (Parcial Superior – Total Inferior; n=14), TS-PI (Total Superior – Parcial Inferior; n=16) e GC (Grupo Controle; n=11). O grupo PS-TI realizou o treinamento de flexão de cotovelo em amplitude parcial (40°- 90°) e de extensão de joelho em amplitude total (90° - 0°). O grupo TS-PI realizou o treinamento de flexão de cotovelo em amplitude total (0° - 120°) e de extensão de joelho em amplitude parcial (60° - 30°). Os sujeitos treinaram duas vezes por semana por um período de 12 semanas. O GC não realizou o treinamento. Antes e após o período de treinamento, os sujeitos foram avaliados em parâmetros relacionados à força muscular dinâmica, resistência muscular, pico de torque isocinético, pico de torque isométrico em diferentes ângulos, ativação muscular dinâmica e isométrica em diferentes ângulos e hipertrofia muscular. Para a força muscular dinâmica, avaliada pelo teste de uma repetição máxima (1RM), o grupo TS-PI teve incrementos de 1RM de flexão de cotovelo (29,37%) maiores que PS-TI (18,42%) (p<0,001). Ainda, o grupo PS-TI teve incrementos de 1RM de extensão de joelho (25,69%) maiores que TS-PI (15,06%) (p=0,038). A resistência muscular, avaliada pelo teste de 60% de 1RM absoluto, mostrou, para a flexão de cotovelo e extensão de joelho, que o grupo que treinou em amplitude total realizou um número maior de repetições do que o que treinou em amplitude parcial o exercício avaliado. Não foram encontradas diferenças nos incrementos de picos de torque isocinético e isométrico em diferentes ângulos entre os grupos PS-TI e TS-PI na flexão de cotovelo e extensão de joelho. Não foram encontrados incrementos significativos de ativação muscular, avaliada durante os testes isocinéticos e isométricos em diferentes ângulos. Foram encontrados incrementos significativos de hipertrofia, avaliada pela espessura muscular, nos músculos flexores de cotovelo, sem diferença entre os grupos PS-TI e TS-PI. Quanto à espessura muscular nos extensores de joelho, o grupo PS-TI teve maiores incrementos quando comparado a TS-PI no somatório de todos os músculos extensores de joelho (6,74% vs. 5,02%) (p=0,001) e no somatório de três diferentes pontos avaliados no músculo vasto lateral (5,20% vs 3,37%) (p=0,033). Assim, todas as diferenças encontradas neste estudo foram a favor do treinamento em amplitude total de movimento, ainda que o grupo que treinou o exercício em amplitude parcial de movimento tenha treinado com cargas significativamente mais elevadas durante todo período de treinamento (PS-TI: 47,94% mais elevada na flexão de cotovelo; TS-PI: 61,32% mais elevada na extensão de joelho). Dessa forma, pode-se concluir que o treinamento de força em amplitude total de movimento causa melhores adaptações neuromusculares e morfológicas, sendo mais efetivo para incrementos de força, resistência e hipertrofia muscular de flexores de cotovelo e extensores de joelho em homens jovens. / The purpose of this investigation was to compare neural and morphological adaptations of a partial range of motion versus a full range of motion strength training in the elbow flexors and knee extensors. Forty-one untrained men (23.78 ± 3.27 years) were divided into three groups: PU-FL (Partial Upper – Full Lower; n=14), FU-PL (Full Upper – Partial Lower; n=16) and CG (Control Group; n=11). The PU-FL group during the training performed elbow flexion with partial range of motion (40° - 90°) and performed knee extension with full range of motion (90° - 0°). The FU-PL group during the training performed elbow flexion with full range of motion (0° - 120°) and performed knee extensor with partial range of motion (60° - 30°). The subjects trained two times per week during 12 weeks. The CG did not train. Before and after training period, subjects were evaluated in parameters related to dynamic muscle strength, muscle endurance, isokinetic peak torque, isometric peak torque at different angles, dynamic and isometric (at different angles) muscle activation and muscle hypertrophy. For the dynamic muscle strength, evaluated by one repetition maximum (1RM) test, the increase in 1RM of the elbow flexion for the FU-PL group (29.37%) was greater than PU-FL group (18.42%) (p<0.001). Moreover, the increase in 1RM of the knee extension for the PU-FL group (25.69%) was greater than FU-PL (15.06%) (p=0.038). The muscle endurance, evaluated by 60% of 1RM test with absolute load in the elbow flexion and knee extension, showed the group that trained the exercise with full range of motion performed a greater number of repetitions than those trained the evaluated exercise with partial range of motion. No differences were observed between PU-FL and FU-PL groups for the increase for isokinetic or isometrics, at different angles, peaks torque in elbow flexion and knee extension. No significant findings were observed for muscle activation measured during isokinetic and isometrics tests. There were significant increases on muscle hypertrophy, evaluated by muscle thickness, of the elbow flexors, but no difference were observed between PU-FL and FU-PL groups. For the muscle thickness of the knee extensors, the increase for the PU-FL group was greater than FU-PL group at sum of all knee extensors muscles (6.74% vs. 5.02%) (p=0.001) and at sum of three different points evaluated in the vastus lateralis muscle (5.20% vs. 3.37%) (p=0.033). Thereby, all the differences found in this investigation were in favor of full range of motion training, despite the group that trained with partial range of motion have been used higher loads throughout the training period (PU-FL: 47.94% higher in elbow flexion; FU-PL: 61.32% higher in knee extension). Thus, we can conclude that strength training with full range of motion causes better neural and morphological adaptations, being more effective for increase in strength, endurance and muscle hypertrophy in the elbow flexors and knee extensors of the young men.

Introdução: Atletas de Powerlifting utilizam habitualmente em sua preparação física o Agachamento (AT) e o Box-Squat (BS). Conhecer as variáveis cinemáticas e eletromiográficas destes exercícios é relevante para sua prescrição. Objetivo: Comparar os efeitos agudos da utilização do Agachamento e do Box-Squat, em três diferentes amplitudes de movimento, sobre variáveis de desempenho neuromuscular, em atletas de Powerlifting. Materiais e Métodos: Dez atletas de Powerlifing (31,7±5,05 anos) participaram de duas sessões de avaliação: i) aplicação de questionário, realização de medidas antropométricas e testes de 1RM para Agachamento e Box-Squat nas condições Completo, Paralelo e Parcial; ii) Coleta do sinal eletromiográfico dos músculos Reto Femoral; Vasto Lateral; Vasto Medial; Bíceps Femoral; Glúteo Máximo; Gastrocnêmio Lateral e Eretores da Coluna, durante AT e BS com as cargas de 1RM previamente aferidas. Coleta de dados de cinemetria 2D para o cálculo da Potência Absoluta e Relativa. Resultados: A carga de 1RM (252±55 Kg) e o Índice de Força Relativa (2,66±0,43) do BS Parcial foram significativamente maiores que nas outras cinco variações de exercício. Potência Absoluta (613,25±194,80 W) e Relativa (6,48±1,86) foram maiores no AT Parcial quando comparado a BS Completo, AT Completo, AT Paralelo e BS Paralelo. A ativação EMG do Reto Femoral foi maior no BS Completo (95,48±46,82 %CIVM) comparada à AT Parcial e BS Parcial. O Glúteo Máximo foi mais ativado no AT Paralelo (175,36±101,79 %CIVM) comparado ao BS Completo (143,51±79,00 %CIVM). A ativação dos Eretores da Coluna no AT Paralelo (132,27±77,31 %CIVM) foi superior à do AT Parcial (92,09±38,28 %CIVM). Conclusão: As cargas de 1RM foram maiores em excursões articulares reduzidas, com vantagem do BS Parcial. O AT Parcial apresentou maiores valores de Potência Absoluta e Relativa. AT e BS mostraram-se equivalentes do ponto de vista da ativação muscular. / Introduction: Powerlifters commonly use Squats and Box-Squats in their training process. Knowing kinetics and kinematics of these exercises can help trainers when planning a training program. Objective: To compare kinetic and kinematics of full, parallel and partial Squats and Box-Squats performed by Powerlifters. Material and Methods: Ten Powerlifters (31,7±5,05 years) participated in two sessions of data collection: i) Survey about training and injury, Anthropometrical measures, 1RM testing for the full, parallel and partial Squats and Box-Squats; ii) Muscle activity of rectus femoris, vastus lateralis, vastus medialis, biceps femoris, gluteus maximus, lateral gastrocnemius and erector spinae over the six conditions at 100% of 1RM. Sagital plane video was recorded for power output measures. Results: Significantly higher loads were observed in Partial Box-Squat (252±55 Kg) compared to the other five situations. Overall (613,25±194,80 W) and Relative (6,48±1,86) Power Output were higher at Partial Squat when compared to Parallel and Full Squats and Box-Squats. Muscle activation of rectus femoris was significantly higher in Full Box-Squat (95,48±46,82 %MVC) compared to Partial Squats and Box-Squats. Gluteus maximus activation was higher at the Parallel Squat (175,36±101,79 %MVC) when compared to the Full Box-Squat (143,51±79,00 %MVC). Erector Spinae muscle activation was significantly higher in Parallel Squat (132,27±77,31 %MVC) in comparison to the Partial Squat (92,09±38,28 %MVC). Conclusion: Higher 1RM loads were found in Partial Range of Motion, especially in Box-Squat. Overall and Relative Power Output were higher at Partial Squats. Squats and Box-Squats showed similar muscle activation patterns.

Made available in DSpace on 2014-06-11T19:35:13Z (GMT). No. of bitstreams: 0 Previous issue date: 2012-08-31Bitstream added on 2014-06-13T20:46:17Z : No. of bitstreams: 1 michelin_e_dr_botfm.pdf: 503394 bytes, checksum: 413a52db063af4196e2ab3748e2aa1a6 (MD5) / Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) / A busca pela estratégia mais eficaz capaz de prevenir, modificar e controlar fatores de risco e doenças crônicas por meio de mudança no estilo de vida (MEV) tornou-se um grande desafio, além de conseguir a adesão, em longo prazo, e principalmente sem supervisão, aos bons hábitos adquiridos durante a intervenção com MEV. Diante disso, o objetivo do presente estudo foi avaliar o efeito da participação e do desligamento do programa de mudança do estilo de vida sobre nível de atividade e aptidão física, percepção de saúde e presença de Síndrome Metabólica em adultos da comunidade de Botucatu-SP. Estudo do tipo transversal com base na comunidade contou com 153 indivíduos previamente participantes de programa de MEV e alocados em grupos Controle, Adesão e Não-Adesão. As avaliações incluíram medidas antropométricas (peso corporal e estatura para cálculo do índice de massa corporal (IMC), circunferência abdominal, percentual de gordura, massa muscular e índice de massa muscular (IMM)), aptidão física (flexibilidade de tronco (sentar e alcançar) e força de preensão manual (dinamometria)) e nível de atividade física e estado de saúde (IPAQ longo, versão 8). Amostra sanguínea de jejum foi utilizada para análise bioquímica (glicemia, HDL-C e triglicerídios), aferição da pressão arterial (técnica auscultatória) e o diagnóstico da Síndrome Metabólica (SM) seguiu as recomendações do NCEP-ATPIII (2001) com adaptação da glicemia (≥ 100 mg/dL) em três momentos (pré-participação (M0), após intervenção de seis meses (M1) e após desligamento (M2) do programa de MEV). Análise de variância e modelo linear generalizado em medidas repetidas para comparação entre momentos e grupos, qui-quadrado, teste de proporção e modelo de regressão logística com nível de significância de 5%. O programa de MEV... / The search for more effective strategy able to prevent, control and modify risk factors and chronic diseases through lifestyle change (LSC) has become a major challenge, beyond to achieving the adherence in long term, especially without supervision, the good habits acquired during the LSC intervention. Thus, the purpose of this study was to evaluate the participation and disconnexion effects of lifestyle change program on physical activity level and fitness, on self-perceived health and metabolic syndrome presence in adults from Botucatu-SP’s community. Cross-sectional study of community-based had 153 subjects previously LSC program participants and allocated in Control, Adherence and Non-Adherence. The assessments included anthropometric measurements (weight and height to calculate body mass index (BMI), waist circumference, fat percentage, muscle mass and muscular mass index (MMI)), fitness (trunk flexibility (sit and reach) and handgrip strength (dynamometry)) and physical activity level and health status (IPAQ long version 8). Fasting blood sample was used for biochemical analysis (glucose, HDL-C and triglycerides), blood pressure measurement (auscultatory technique) and metabolic syndrome (MetS) diagnosis followed the NCEP-ATPIII (2001) recommendations with glucose adaptation (≥ 100 mg / dL) in three moments (pre-participation (M0), six months after intervention (M1) and after LSC program disconnexion (M2)). Variance analysis and generalized linear model for repeated measures to compare moments and groups, chi-square and proportions test and logistic regression model with 5% significance level. The LSC program significantly reduced work and housework physical activity, poor health perception and low physical activity level and increased leisure physical activity and flexibility, beyond to attenuate... (Complete abstract click electronic access below)

Introdução: As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela atividade deficiente de enzimas lisossômicas que afetam o catabolismo de glicosaminoglicanos, o que leva ao seu acúmulo no organismo e a um quadro clínico multisistêmico. As manifestações clínicas geram limitações nas tarefas cotidianas. Objetivos: Avaliar a capacidade funcional e a amplitude de movimento articular (ADM), e o efeito da Terapia de Reposição Enzimática (TRE) em ambas as variáveis, em um grupo de pacientes com MPS acompanhados por um centro de referência em doenças lisossômicas do Hospital de Clínicas de Porto Alegre, Brasil. Métodos: Estudo prospectivo, longitudinal, com amostragem por conveniência. Utilizou-se o Pediatric Evaluation of Disability Inventory (PEDI) e a Medida de Independência Funcional (MIF) para avaliar funcionalidade, e a goniometria para avaliar ADM. Foram realizadas três avaliações em 0, 6 e 12 meses após inclusão no estudo (Momento 1, Momento 2 e Momento 3). Para fins de análise, os pacientes foram divididos em rês grupos: Grupo 1: pacientes sem TRE; Grupo 2: pacientes em TRE antes e após inclusão no estudo; Grupo 3: pacientes em TRE após inclusão no estudo. Resultados: 21 pacientes foram incluídos: Grupo 1=7 (MPS II, MPS III-B, MPS IV-A); Grupo 2=6 (MPS I; MPS IV) e Grupo 3=8 (MPS I, MPS II, VI), mediana de idade de 10,5 anos, 18,5 anos e 2 anos; e intervalo interquartil de 9-14,5 anos, 11,5-21,75 anos e 1,5-5 anos, respectivamente. Não houve diferença estatisticamente significativa entre os grupos para ADM. Encontrou-se diferença para a área de autocuidado do PEDI para o Grupo 3 (p=0,05), a melhora clínica na ADM foi observada somente para este grupo. No teste MIF o Grupo 2 apresentou melhores escores em todos os domínios avaliados. Houve correlação positiva entre a área de autocuidado do PEDI e flexão de punho (r=,718). Discussão/Conclusão: A TRE parece promover a manutenção da ADM e funcionalidade. No entanto, é difícil avaliar se isso decorre da TRE, da melhora clínica geral proporcionada pelo tratamento, ou da combinação destes fatores. A preservação da funcionalidade é um desafio no tratamento clínico destes pacientes e a manutenção do desempenho ocupacional deve ser definida como objetivo a ser alcançado. / Introduction: The mucopolysaccharidoses (MPS) are rare genetic disorders caused by a deficiency in lysosomal enzymes that affect the catabolism of glycosaminoglycans and cause their accumulation, resulting in a multisystemic clinical picture. Their clinical manifestations result in limitations to perform daily life tasks. Objectives: To evaluate functional capacity, joint range of motion (ROM), and the effect of enzyme replacement therapy (ERT) in both variables in patients with MPS followed at the reference center for lysosomal disorders at Hospital de Clínicas de Porto Alegre, Brazil. Methods: The present was a prospective, longitudinal study with convenience samples. The Pediatric Evaluation of Disability Inventory (PEDI) and the Functional Independence Measure (FIM) were used to evaluate functionality, and goniometry was used to evaluate ROM, at three moments (study allocation, and 6 and 12 months after study inclusion). For the analysis, three groups were formed, as follows: Group 1 (patients without ERT); Group 2 (patients on ERT before and after study inclusion), and Group 3 (patients that initiated ERT after study inclusion). Results: 21 patients were included: 7 in Group 1 (MPS II: 3, MPS III-B: 2, MPS IV-A: 2); 6 in Group 2 (MPS I: 3; MPS VI: 3), and 8 in Group 3 (MPS I: 3, MPS II: 4, MPS VI: 1). A statistically significant difference was found in the area of self-care of the PEDI for Group 3 (p=0,05), and clinical improvement in ROM was seen only in Group 3. Group 2 showed higher scores in all domains evaluated by the FIM. No statistically significant difference was found between the groups for ROM in the three moments evaluated. There was a positive correlation between the area of self-care of the PEDI and wrist flexion (r=0.718). Discussion/Conclusion: ERT seems to promote maintenance of ROM and functionality. However, it is difficult to evaluate whether or not this is due to ERT, to the general clinical improvement resulting from the treatment, or the combination of both. The preservation of functionality is an increasing challenge in the treatment of these patients, and maintenance of occupational performance should be defined as an objective to be reached by therapies used.