887 resultados para Duchenne muscular dystrophy


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Imprint on cover: "Sociedad de Autores Españoles."

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"A chronological list of important contributions to the physiology of muscle": p. 53-55.

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Thesis (Ph.D.)--University of Washington, 2016-06

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Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior born cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889-D11S1321, Z(max) = 4.59 at theta = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the so-me chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.

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An important functional and evolutionary constraint on the physical performance of vertebrates is believed to be the trade-off between speed and endurance capacity. However, despite the pervasiveness of physiological arguments, most studies have found no evidence of the trade-off when tested at the whole-animal level. We investigated the existence of this trade-off at the whole-muscle level, the presumed site of this physiological conflict, by examining inter-individual variation in both maximum power output and fatigue resistance for mouse extensor digitorum longus (EDL) muscle using the work-loop technique. We found negative correlations between several measures of in vitro maximum power output and force production with fatigue resistance for individual mouse EDL muscles, indicating functional trade-offs between these performance parameters. We suggest that this trade-off detected at the whole-muscle level has imposed an important constraint on the evolution of vertebrate physical performance.

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A gap exists in the knowledge of acute dehydration and its effect on anaerobic muscular power. Therefore the purpose of this study was to examine the effects of active dehydration by exercise in a hot humid environment on anaerobic muscular power.

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Context: While research suggests whole body vibration (WBV) positively affects measures of neuromuscular performance in athletes, researchers have yet to address appropriate and effective vibration protocols. Objective: To identify the acute effects of continuous and intermittent WBV on muscular power and agility in recreationally active females. Design: We used a randomized 3-period cross-over design to observe the effects of 3 vibration protocols on muscular power and agility. Setting: Sports Science and Medicine Research Laboratory at Florida International University. Patients or Other Participants: Eleven recreationally active female volunteers (age=24.4±5.7y; ht=166.0±10.3cm; mass=59.7±14.3kg). Interventions: Each session, subjects stood on the Galileo WBV platform (Orthometrix, White Plains, NY) and received one of three randomly assigned vibration protocols. Our independent variable was vibration length (continuous, intermittent, or no vibration). Main Outcome Measures: An investigator blinded to the vibration protocol measured muscular power and agility. We measured muscular power with heights of squat and countermovement jumps. We measured agility with the Illinois Agility Test. Results: Continuous WBV significantly increased SJ height from 97.9±7.6cm to 98.5±7.5cm (P=0.019, β=0.71, η2 =0.07) but not CMJ height [99.1±7.4cm pretest and 99.4±7.4cm posttest (P=0.167, β=0.27)] or agility [19.2±2.1s pretest and 19.0±2.1s posttest (P=0.232, β=0.21)]. Intermittent WBV significantly enhanced SJ height from 97.6±7.7cm to 98.5±7.7cm (P=0.017, β=0.71, η2 =0.11) and agility 19.4±2.2s to 19.0±2.1s (P=0.001, β=0.98, η2=0.16), but did not effect CMJ height [98.7±7.7cm pretest and 99.3±7.3cm posttest (P=0.058, β=0.49)]. Conclusion: Continuous WBV increased squat jump height, while intermittent vibration enhanced agility and squat jump height. Future research should continue investigating the effect of various vibration protocols on athletic performance.

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Objective: analyze the effect of Kinesio Taping (KT) on the indirect clinical markers of muscle damage induced by eccentric exercises in the elbow flexors in healthy individuals. Materials and methods: It is a randomized controlled trial involving sixty volunteers at age group between 18 and 28 years randomly selected. The sample into three groups with twenty participants: control group (CG) – eccentric protocol without KT, KT group – eccentric with tensioned KT, placebo group – eccentric protocol KT with no tension. The evaluations took place at four moments; the first one was the basis line (AV1), after the second protocol (AV2) and the following two groups 24 (AV3) and 48 hours (AV4) after the intervention protocol. The muscle damage was induced by sixteen maximum eccentric contractions of the elbow flexors from the non-dominant limb, divided in two sets of eight repetitions, at 60º/s, with two minutes interval. The variables analyzed were: the joint amplitude in rest, the level of pain, the joint position sense (JPS) followed of isokinetic checking with electromyographic sign capitation. These data were analyzed in software SPSS 20.0. The normality was identified by Kolmogorov-Smimov examination and then, being used the ANOVA mixed model with significance of 5%. Outcomes: a decrease was observed at joint amplitude moreover, an immediate increase of pain wich increased after 24 and remained until 48 hours at all groups searched. There was not difference at the JPS. The variables peak torque, average peak torque, total work and mean power mean reduced until 48 hours after muscle lesion in all groups. Among the groups, there was no difference in EMG values and for any of the variables. Conclusion: The KT did not influence at the indirect clinical markers of muscle lesion induced by eccentric exercises in the elbow flexors in healthy people.

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Objective: analyze the effect of Kinesio Taping (KT) on the indirect clinical markers of muscle damage induced by eccentric exercises in the elbow flexors in healthy individuals. Materials and methods: It is a randomized controlled trial involving sixty volunteers at age group between 18 and 28 years randomly selected. The sample into three groups with twenty participants: control group (CG) – eccentric protocol without KT, KT group – eccentric with tensioned KT, placebo group – eccentric protocol KT with no tension. The evaluations took place at four moments; the first one was the basis line (AV1), after the second protocol (AV2) and the following two groups 24 (AV3) and 48 hours (AV4) after the intervention protocol. The muscle damage was induced by sixteen maximum eccentric contractions of the elbow flexors from the non-dominant limb, divided in two sets of eight repetitions, at 60º/s, with two minutes interval. The variables analyzed were: the joint amplitude in rest, the level of pain, the joint position sense (JPS) followed of isokinetic checking with electromyographic sign capitation. These data were analyzed in software SPSS 20.0. The normality was identified by Kolmogorov-Smimov examination and then, being used the ANOVA mixed model with significance of 5%. Outcomes: a decrease was observed at joint amplitude moreover, an immediate increase of pain wich increased after 24 and remained until 48 hours at all groups searched. There was not difference at the JPS. The variables peak torque, average peak torque, total work and mean power mean reduced until 48 hours after muscle lesion in all groups. Among the groups, there was no difference in EMG values and for any of the variables. Conclusion: The KT did not influence at the indirect clinical markers of muscle lesion induced by eccentric exercises in the elbow flexors in healthy people.

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Introduction: Menopause is characterized by the depletion of ovarian follicles and the gradual decline in estradiol levels, which ends with the definitive cessation of menstrual periods (menopause). As a result of hypoestrogenism, characteristic symptoms, such as hot flashes, night sweats, vaginal dryness, dyspareunia, insomnia, mood swings and depression can be observed. There is also the weakening of the pelvic floor muscles (MAP) as a result of progressive muscle-aponeurotic and connective atrophy with consequent decreased sexual function. Objective: To evaluate the strength of MAP, sexual function and quality of life of menopausal women. Methodology: This is an observational, analytical, cross-sectional design. The sample consisted of 55 women (35 postmenopausal and 20 perimenopausal), aged between 40 and 65, who were assessed by muscle strength and perineometry test. For the assessment of sexual function and quality of life, used the Female Sexual Function Index (FSFI) and Utian Quality of Life (UQOL), respectively. Statistical analysis was performed using Pearson's correlation and multivariate analysis. Results: The mean age was 52.78 (± 6.47 years). Sexual dysfunction presented, 61.8% of participants (43.62% of postmenopausal and perimenopausal 18.17%). Muscle strength test and the maximum perineometry had a median of 3.00 (Q25: 2 e Q75: 4) and 33,50 cmH20 (Q25: 33,5 e Q75: 46,6), respectively. No correlation was found between sexual function and muscle strength (r = 0.035; p = 0.802) and between sexual function and perineometry (r = 0.126; p = 0.358). The mean total score of UQOL was 74.45 (± 12.23). Weak positive correlation was found between sexual function and quality of life (r = +0.422 p = 0.001). Multivariate analysis identified associations between sexual function and variables: quality of life, climacteric symptoms, physical activity and education level. Conclusions: These results suggest that the climacteric symptoms, quality of life, physical activity and level of education are associated with sexual function in menopausal women. However, the muscular component of sexual function needs to be further investigated in this context.

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Obesity is a chronic metabolic disease characterized by adipose tissue formation excess leading to an increase in body fat mass, of multifactorial origin, produced mainly by poor eating habits combined with a sedentary lifestyle. Data consider obesity as a serious disease that affects the world's population, ranking fifth in death rates. Faced with this situation, individuals seek, increasingly, means to lose weight with less physical effort and food. In 2009 and 2010 the drug liraglutide was lauched in order to reduce weight in individuals with diabetes mellitus type 2, thus avoiding the emergence of other diseases. The aggravating factor is that obese nondiabetic individuals are making use of this substance, even if its use is not authorized by ANVISA (Brazilian Health Surveillance Agency). Thus the objective of this research is to evaluate the effect of liraglutide for muscle or fat tissues and biochemical parameters in Swiss mice submitted to cafeteria diet and physical activity. The study was approved by the Ethics Committee on Animal Use - CEUA (nº003 Protocol / 2014). For this study 74 animals (Swiss mice) were used, divided as follows: in the initial phase of this study, we carried out a pilot study (n = 10) divided into a control group (PCON) (n = 5) and cafeteria group (PCAF) (n = 5), in order to evaluate a cafeteria diet which was both attractive to the animals and that could provide an increase in adipose tissue. After the induction of the diet, animals were euthanized and as a result, the animals in the PCAF group showed an intra-abdominal adiposity 0.74 ± 0.05 g, taken as the parameter for increasing fat in animals. Subsequently the study base was conducted for this research where animals were used (n = 64) divided into 2 groups: the Cafeteria Study Base Group (EBCAF) divided as follows: cafeteria + exercise + liraglutide (CEL) (n = 8), cafeteria + exercise + saline (CES) (n = 8), cafeteria + liraglutide (CL) (n = 8) and cafeteria + saline (CS) (n = 8). The Chow Study Base group (EBR) was divided into: exercise + liraglutide (EL) (n = 8), exercise + saline + (ES) (n = 8), liraglutide (L) (n = 8) and saline solution (SS) (n = 8). All animals went through the submission process to the cafeteria diet, followed by exercise protocol through swimming and treatment with the test substance intraperitoneally (200 mg / mL / kg). After the treatments, the animals were euthanized and had the following parameters evaluated: the muscle tissue mass, adipose tissue mass and biochemical parameters. It was observed that the processing done with the exercise-associated liraglutide reduced adipose tissue mass significantly (0.32 ± 0.05 g) compared to the saline group (0.53 ± 0.07 g). There were no changes in the muscle tissue of the group which was treated and exercised (1.39 ± 0.03 g) compared to the saline group (1.33 ± 0.03 g). Regarding biochemical parameters it was evident that there were changes in these parameters. Interesting to note that, although blood glucose values have been changed, the animals did not become diabetic. Thus, it appears that physical activity together with liraglutide is eficcient to the loss of intraabdominal adipose tissue and the maintenance of lean body mass thereby generating a satisfactory result in the pursuit of quality of life and disease prevention.

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Obesity is a chronic metabolic disease characterized by adipose tissue formation excess leading to an increase in body fat mass, of multifactorial origin, produced mainly by poor eating habits combined with a sedentary lifestyle. Data consider obesity as a serious disease that affects the world's population, ranking fifth in death rates. Faced with this situation, individuals seek, increasingly, means to lose weight with less physical effort and food. In 2009 and 2010 the drug liraglutide was lauched in order to reduce weight in individuals with diabetes mellitus type 2, thus avoiding the emergence of other diseases. The aggravating factor is that obese nondiabetic individuals are making use of this substance, even if its use is not authorized by ANVISA (Brazilian Health Surveillance Agency). Thus the objective of this research is to evaluate the effect of liraglutide for muscle or fat tissues and biochemical parameters in Swiss mice submitted to cafeteria diet and physical activity. The study was approved by the Ethics Committee on Animal Use - CEUA (nº003 Protocol / 2014). For this study 74 animals (Swiss mice) were used, divided as follows: in the initial phase of this study, we carried out a pilot study (n = 10) divided into a control group (PCON) (n = 5) and cafeteria group (PCAF) (n = 5), in order to evaluate a cafeteria diet which was both attractive to the animals and that could provide an increase in adipose tissue. After the induction of the diet, animals were euthanized and as a result, the animals in the PCAF group showed an intra-abdominal adiposity 0.74 ± 0.05 g, taken as the parameter for increasing fat in animals. Subsequently the study base was conducted for this research where animals were used (n = 64) divided into 2 groups: the Cafeteria Study Base Group (EBCAF) divided as follows: cafeteria + exercise + liraglutide (CEL) (n = 8), cafeteria + exercise + saline (CES) (n = 8), cafeteria + liraglutide (CL) (n = 8) and cafeteria + saline (CS) (n = 8). The Chow Study Base group (EBR) was divided into: exercise + liraglutide (EL) (n = 8), exercise + saline + (ES) (n = 8), liraglutide (L) (n = 8) and saline solution (SS) (n = 8). All animals went through the submission process to the cafeteria diet, followed by exercise protocol through swimming and treatment with the test substance intraperitoneally (200 mg / mL / kg). After the treatments, the animals were euthanized and had the following parameters evaluated: the muscle tissue mass, adipose tissue mass and biochemical parameters. It was observed that the processing done with the exercise-associated liraglutide reduced adipose tissue mass significantly (0.32 ± 0.05 g) compared to the saline group (0.53 ± 0.07 g). There were no changes in the muscle tissue of the group which was treated and exercised (1.39 ± 0.03 g) compared to the saline group (1.33 ± 0.03 g). Regarding biochemical parameters it was evident that there were changes in these parameters. Interesting to note that, although blood glucose values have been changed, the animals did not become diabetic. Thus, it appears that physical activity together with liraglutide is eficcient to the loss of intraabdominal adipose tissue and the maintenance of lean body mass thereby generating a satisfactory result in the pursuit of quality of life and disease prevention.