Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

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.

Constraints on muscular performance: trade-offs between power output and fatigue resistance

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.

Sleep-related breathing disorder in Duchenne muscular dystrophy: Disease spectrum in the paediatric population

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease with death usually occurring because of respiratory failure. Signs of early respiratory insufficiency are usually first detectable in sleep. Objective: To study the presentation of sleep-related breathing disorder (SRBD) in patients with DMD. Method:> A retrospective review of patients with DMD attending a tertiary paediatric sleep disorder clinic over a 5-year period. Symptoms, lung function and polysomnographic indices were reviewed. Results: A total of 34 patients with DMD were referred for respiratory assessment (1-15 years). Twenty-two (64%) reported sleep-related symptomatology. Forced vital capacity (FVC) was between 12 and 107% predicted (n = 29). Thirty-two progressed to have polysomnography of which 15 were normal studies (median age: 10 years) and 10 (31%) were diagnostic of obstructive sleep apnoea (OSA) (median age: 8 years). A total of 11 patients (32%) showed hypoventilation (median age: 13 years) during the 5-year period and non-invasive ventilation (NIV) was offered to them. The median FVC of this group was 27% predicted. There was a significant improvement in the apnoea/hypopnoea index (AHI) (mean difference = 11.31, 95% CI = 5.91-16.70, P = 0.001) following the institution of NIV. Conclusions: The prevalence of SRBD in DMD is significant. There is a bimodal presentation of SRBD, with OSA found in the first decade and hypoventilation more commonly seen at the beginning of the second decade. Polysomnography is recommended in children with symptoms of OSA, or at the stage of becoming wheelchair-bound. In patients with the early stages of respiratory failure, assessment with polysomnography-identified sleep hypoventilation and assisted in initiating NIV.

AVALIAÇÃO CEFALOMÉTRICA DO TECIDO MOLE EM JOVENS COM OCLUSÃO NORMAL: APLICAÇÃO E COMPARAÇÃO DA ANÁLISE DE ARNETT et al.

Este estudo teve como objetivo aplicar e avaliar a Análise Cefalométrica do Tecido Mole proposta por ARNETT et al. em jovens brasileiros, determinando seus valores médios e comparando com os dos autores. A amostra compôs-se de 60 indivíduos, sendo 24 do sexo masculino e 36 do sexo feminino. Todos brasileiros, leucodermas e portadores de oclusão normal natural, apresentando um mínimo de quatro das seis chaves de oclusão de ANDREWS. A utilização da posição natural da cabeça e da linha vertical verdadeira no momento da obtenção das telerradiografias compuseram a metodologia do trabalho. Avaliaram-se os fatores dentários e os esqueléticos, as espessuras do tecido mole, os comprimentos faciais, as projeções do tecido mole em relação à Linha Vertical Verdadeira e a harmonia intramandibular, a intermaxilar e a facial total. Os resultados demonstraram que os valores médios da amostra estudada apresentaram diferenças em relação aos valores normativos de ARNETT et al. na maioria das variáveis e quando comparados entre si, verificou-se que os americanos apresentaram altura facial maior, perfil facial mais reto e nariz mais proeminente que os brasileiros, tanto para o sexo masculino como para o feminino. O sexo masculino apresentou altura facial e espessura dos tecidos moles maior que o sexo feminino, porem, lábios superior e inferior menos protruídos em relação à Linha Vertical Verdadeira. A

AS ESCALAS WECHSLER NO DIAGNÓSTICO NEUROPSICOLÓGICO DE CRIANÇAS COM DISTROFIA MUSCULAR DE DUCHENNE

Esta pesquisa teve por objetivo fazer uma avaliação neuropsicológica das funções cognitivas de crianças com Distrofia Muscular de Duchenne. Avaliou dez meninos, com idade entre seis e quinze anos. Utilizou-se da Escala de Inteligência Wechsler para crianças, WISC III, fazendo uma análise quantitativa e qualitativa dos dados. Os resultados quantitativos indicaram QIV muito diversificado entre os sujeitos, variando entre 53 e 97, sendo o QIVM = 77.4. A mesma variação foi observada no QIE, com resultados variando entre 57 e 88, com QIEM=71.2. O QITM foi de 71.4. . Esses resultados localizam-se na faixa limítrofe, dentro das variações normais da inteligência. A análise qualitativa fatorial segundo Figueiredo, registrou maior rebaixamento no fator III, Resistência à Distração, seguido do fator IV, Velocidade de Processamento. Na Escala Verbal, os subtestes que implicavam em utilização da Memória foram os mais comprometidos, comprovando pesquisas anteriores. Na Escala de Execução, o maior prejuízo observado foi devido à dificuldade em códigos e símbolos, sob pressão de tempo. Não foi observada nas crianças com resultados mais baixos, diferença significativa entre o QIV e o QIE. A transposição dos dados para a leitura neuropsicológica utilizou-se do diagrama de McFie. A grande diversidade dos resultados individuais recomenda estudos posteriores.

Upper and Lower Body Anaerobic Muscular Power is Adversely Affected by Active Dehydration

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.

The Acute Effects of Whole Body Vibration on Muscular Power and Agility

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.

Análise da distribuição do volume pulmonar total e compartimental de crianças com peso normal e obesidade em diferentes posturas

Introdução: A obesidade infantil apresenta incidência crescente e as possíveis comorbidades, como alteração da função respiratória, estão cada vez mais presente nessa faixa etária. O tecido adiposo impõe carga ao sistema respiratório o que leva a um padrão restritivo. Essa condição sofre alterações com as mudanças posturais, onde a gravidade influencia o padrão respiratório de acordo com o posicionamento adotado. Objetivo: Avaliar a distribuição dos volumes total e regional e o movimento tóracoabdominal de crianças e adolescentes que estão acima do peso nas posturas supino e sentado. Métodos: Cinqüenta e duas crianças/adolescentes (8-12 anos) divididas em três grupos: Grupo Obeso (GO=22); Grupo Sobrepeso (GSP=9); Grupo Controle (GC=21) foram avaliadas quanto às medidas antropométricas, teste de função pulmonar, exame das pressões respiratórias máxima e a pletismografia optoeletrônica em duas posturas, supino e sentado, durante a respiração tranquila. Resultados: As crianças que estão obesas apresentaram maiores valores em relação ao GSP e GC das seguintes variáveis espirométricas: volume expiratório forçado no primeiro segundo (VEF1) (p<0.05) e capacidade vital forçada (CVF) (p<0.01). No exame de manovacuometria o GO apresentou um aumento na pressão inspiratória máxima (PImáx) (p<0.01) em comparação com os outros grupos. Quanto à distribuição do volume corrente, o GO possui uma maior contribuição do compartimento abdominal (AB) na postura supina (p<0.05) em relação ao GC e GSP, enquanto que na postura sentada os grupos não diferiram em relação à distribuição dos volumes. O GO apresentou maior assincronia na postura supina (p<0.05) e maior velocidade de encurtamento (p<0.05) em relação os outros grupos. Conclusão: A obesidade em crianças/adolescentes não provoca prejuízos na função pulmonar, incrementa a força muscular inspiratória, aumenta a participação do compartimento AB e a assincronia no MTA na postura em supino, conclui-se que a postura supina associada à obesidade provoca aumento da sobrecarga do diafragma, desfavorecendo o desempenho do sistema respiratório.

Efeito do ácido ascórbico sobre a espermatogênese de camundongos com distrofia muscular de Duchenne

The objective was to evaluate spermatogenesis alterations caused by DMD and the effect of the treatment using ascorbic acid in preventing those injuries. Twenty four mice were used, 12 from the C57BL/10 lineage (non-dystrophic) and 12 from the C57BL/10Mdx (dystrophic). The sample was divided in six groups containing 4 animals each, as: C30 = 30 days control; D30 = Dystrophic with 30 days; C60 = 60 days control; D60 = Distrophic with 60 days; CS60 = 60 days control supplemented with ascorbic acid and DS60 = Dystrophic with 60 days supplemented with ascorbic acid. The ascorbic acid supplementation was given in the water, 0,005 mg/day. After euthanasia, the testicles (right and left) were collected, weighted and cross sectioned. The material was fixed in the Karnovsky solution for 24 hours, included in resin for histological studies (morphological and morphometric analyzes) submitted to ultrastructural analysis and immunohistochemistry for caspase-3. There was a significant increase in the tunica propria percentage in D30 compared to C30 and D60. The ultrastructural analysis showed mitochondrial apoptosis evidence of Sertoli cells that can reduce sperm efficiency in CS60 and DS60. A higher volume density of apoptotic cells postivas to Caspase-3 in C30 and D30 versus DS60 compared to CS60. There was severe hypertrophy of the Leydig cells between D30 and D60. However, with supplementation was observed reversal of this change in DS60. The ultrastructure of Leydig cells to early presence of lipid vesicles was observed in the group pre-pubertal dystrophic (D30). Thus, the DMD affect the organization of the seminiferous tubules and intertubule, however, the ascorbic acid supplementation used for the treatment of DMD has been just enough to reduce the hypertrophy of the Leydig cells.

Efeitos do Kinesio Taping® sobre os marcadores clínicos indiretos de dano muscular induzido pelo exercício excêntrico: ensaio clínico randomizado

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.

Efeitos do Kinesio Taping® sobre os marcadores clínicos indiretos de dano muscular induzido pelo exercício excêntrico: ensaio clínico randomizado

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.

Correlação entre força muscular do assoalho pélvico, função sexual e qualidade de vida em mulheres de meia idade

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.