Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1 / 中华儿科杂志

Objective: To investigate the clinical features and gene variation characteristics of children with dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene associated spinal muscular atrophy with lower extremity predominant (SMALED) 1. Methods: The clinical data of 4 SMALED1 children admitted to Peking University First Hospital from December 2018 to May 2021, who were found to have pathogenic variation of DYNC1H1 gene through genetic testing, except for other genes known to be related to motor retardation, were retrospectively summarized to analyze the phenotype and genotype characteristics. Results: There were 3 males and 1 female. The age of onset was 1 year, 1 day, 1 day and 4 months, respectively. The age of diagnosis was 4 years and 10 months, 9 months, 5 years and 9 months, and 3 years and 1 month, respectively. The clinical manifestations were muscle weakness and muscular atrophy of lower limbs, 2 cases with foot deformity, 1 case with early non progressive joint contracture, 1 case with hip dislocation and 1 case with mental retardation. De novo heterozygous missense variations in DYNC1H1 gene were found in all 4 children. According to the rating of American College of medical genetics and genomics, they were all possible pathogenic and pathogenic variations, with p.R598C, p.P776L, p.Y1109D variations had been reported, and p.I1086R variation had not been reported. Conclusions: For those with unexplained lower limb muscle weakness, muscle atrophy, joint contracture and foot deformity, upper limb motor ability related retention, with or without mental retardation, as well as the motor ability progresses slowly, it is necessary to consider the possibility of SMALED1 and the detection of DYNC1H1 gene when necessary.

Neuropatía motora multifocal: ¿cómo diagnosticar un caballo de Troya? / Multifocal motor neuropathy: how to diagnose a trojan horse?

Introducción: La neuropatía motora multifocal con bloqueos de la conducción (NMMBC) es una enfermedad crónica inmunomediada, con un compromiso exclusivo de los nervios motores. Es importante diferenciarla de otras enfermedades que cursan con afectación motora, debido a que ésta es una enfermedad tratable. Cuadro clínico: Paciente varón de 56 años, con compromiso motor progresivo en el miembro superior del lado derecho desde el año 2016. El examen neurofisiológico demostró la presencia de múltiples bloqueos de la conducción nerviosa. Los anticuerpos antigangliósidos fueron negativos. Se indicó tratamiento con inmunoglobulina endovenosa en varios ciclos, con mejoría progresiva del cuadro. Discusión: Se discute el plan diagnóstico clínico y electrofisiológico, los diagnósticos diferenciales, las hipótesis fisiopatológicas y el tratamiento de esta enfermedad de rara ocurrencia

Introduction: Multifocal motor neuropathy with conduction blocks (NMMBC) is a chronic immunemediated disease that exclusively involves the motor nerves. It is important to differentiate it from other diseases that present with motor involvement, because this is a treatable disease. Clinical picture: A 56-year-old male patient, with progressive motor involvement in the right upper limb since 2016. A neurophysiological examination revealed multiple nerve conduction blocks. Antiganglioside antibodies were negative. Treatment with intravenous immunoglobulin was indicated for several cycles with progressive improvement of the condition. Discussion: Clinical and electrophysiological diagnostic plans, differential diagnoses, pathophysiological hypotheses, and treatment of this rare disease are discussed

Hirayama Disease: Case Report / Doença de Hirayama: Relato de caso

Abstract A 26-year-old previously healthy patient who, at the age of 18 years, began progressive loss of distal strength, rest tremor, and muscle atrophy in the left upper limb. Upon examination, the patient presented moderate distal atrophy, degree 4 in muscular strength, and minipolymioclonus. Electromyoneurography revealed (EMNG) chronic preganglionic bilateral involvement of bilateral C7/C8/T1, worse on the left, with signs of active C8/T1 denervation. A cervical spine magnetic resonance imaging (MRI) scan showed spondylodiscal degenerative changes with central protrusions in C4-C5, C6-C7, and right central in C5-C6, which touched the dural sac. The anteroposterior diameter of the medulla in neutral position, in the C5-C6 plane, was of 5.1 mm. There was a reduction of the spinal cord caliber to 4.0 mm after the dynamic maneuver of forced flexion of the spine, as well as signal increase in the anterior horns. The clinical findings and those of the complementary tests were compatible with Hirayama disease (HD), a rare benign motor neuron disease that affects cervical spinal segments and is most prevalent in men, with onset in the early 20s. Unilateral and slowly progressive weakness is typical, but self-limited. Sensory disturbances, and autonomic and upper motor neuron signals are rare. Management is usually conservative, with the use of a soft cervical collar. Although rare, HD should be considered in young patients with focal asymmetric atrophy in the upper limbs. The early diagnosis of HD depends on the degree of suspicion, as well as on the cooperation and communication among the various specialties involved in the investigation.

Resumo Paciente de 26 anos, previamente hígido, que, aos 18 anos, iniciou perda progressiva de força distal, tremor de repouso, e atrofia muscular no membro superior esquerdo. Ao exame, apresentou atrofia moderada, distal, força muscular de grau 4, e minipolimioclonus. A eletroneuromiografia (ENMG) revelou comprometimento pré-ganglionar crônico de C7/C8/T1 bilateral pior à esquerda, com sinais de desnervação ativa em C8/T1. A ressonância magnética (RM) de coluna cervical mostrou alterações degenerativas espondilodiscais com protrusões centrais em C4-C5, C6-C7, e central direita em C5-C6, que tocavam o saco dural. O diâmetro anteroposterior da medula na posição neutra, no plano de C5-C6, era de 5,1 mm. Houve redução do calibre da medula para 4,0 mm após a manobra dinâmica de flexão forçada da coluna, e aumento de sinal nos cornos anteriores. Os achados clínicos e os dos exames complementares eram compatíveis com doença de Hirayama (DH), uma doença benigna rara dos neurônios motores, que afeta os segmentos espinhais cervicais e é mais prevalente em homens e de início próximo aos 20 anos. É típica a fraqueza unilateral e lentamente progressiva, porém autolimitada. Perturbações sensoriais, sinais autonômicos e do neurônio motor superior são raras. O manejo geralmente é conservador, com uso de colar cervical macio. Apesar de rara, a DH deve ser considerada em pacientes jovens que apresentam atrofias assimétricas focais de membros superiores. O diagnóstico precoce de DH depende do grau de suspeição, e da cooperação e comunicação entre as diversas especialidades envolvidas na investigação.

Physical therapy protocols to attenuate skeletal muscle atrophy in critically ill patients: narrative review / Protocolos de terapia física para atenuar la atrofia del músculo esquelético en pacientes críticos: revisión narrativa

SUMMARY: To describe the physical therapy protocols used in critically ill patients to attenuate skeletal muscle atrophy. We conducted a search in PubMed and Embase from inception to November 2020. Observational or experimental studies published in English or Spanish that evaluated the effect of physical therapy protocols on the attenuation of skeletal muscle atrophy in critically ill patients through muscle strength or mass measurement were considered eligible. Studies were only included if they reported a detailed description of the dosing of the interventions. Seventeen studies met the eligibility criteria. We included randomised clinical trials (n = 16) and observational studies (n = 1). The total population of the included studies was 872 critically ill patients. The studies aimed to evaluate the reliability, safety or effectiveness of neuromuscular electrical stimulation (n = 10) protocols, early mobilisation (n = 3), ergometer training (n = 2), transfers in tilt table (n = 1), and blood flow restriction (n = 1). Physical therapy protocols are part of the critically ill patient's integral management. Strategies such as passive mobilisation, in-bed and out-of-bed transfers, gait training, ergometer training, and neuromuscular electrical stimulation substantially impact critically ill patients' prognoses and quality of life after hospital discharge.

RESUMEN: Describir los protocolos de terapia física usados en pacientes críticos para atenuar la atrofia muscular esquelética. Realizamos una búsqueda en PubMed y Embase desde el inicio hasta noviembre de 2020. Se consideraron los estudios observacionales o experimentales publicados en inglés o español que evaluaron el efecto de los protocolos de terapia física en la atenuación de la atrofia del músculo esquelético en pacientes críticos a través de la medición de la fuerza o la masa muscular. Los estudios solo se incluyeron si informaron una descripción detallada de la dosificación de las intervenciones. Diecisiete estudios cumplieron los criterios de elegibilidad. Se incluyeron ensayos clínicos aleatorizados (n = 16) y estudios observacionales (n = 1). La población total de los estudios incluidos fue de 872 pacientes en estado crítico. Los estudios tuvieron como objetivo evaluar la confiabilidad, seguridad o efectividad de los protocolos de estimulación eléctrica neuromuscular (n = 10), movilización temprana (n = 3), entrenamiento con ergómetro (n = 2), transferencias en mesa basculante (n = 1) y restricción del flujo sanguíneo (n = 1). Los protocolos de terapia física forman parte del manejo integral del paciente crítico. Es- trategias como la movilización pasiva, los traslados dentro y fuera de la cama, el entrenamiento de la marcha, el entrenamiento con ergómetro y la estimulación eléctrica neuromuscular tienen un impacto sustancial en el pronóstico y la calidad de vida de los pacientes críticos después del alta hospitalaria.

Role of autophagy in the maintenance of skeletal muscle mass / 中国骨伤

As an important exercise and energy metabolism organ of the human body, the normal maintenance of skeletal muscle mass is essential for the body to perform normal physiological functions. The autophagy-lysosome (AL) pathway is a physiological or pathological mechanism that is ubiquitous in normal and diseased cells. It plays a key role in the maintaining of protein balance, removing damaged organelles, and the stability of internal environment. The smooth progress of the autophagy process needs to go through multiple steps, which are completed under the coordinated action of multiple factors. Autophagy maintains the muscle homeostasis of a healthy body by removing cell components such as damaged myofibrils and isolated cytoplasmic proteins. Autophagy could also provide the initial energy required for cell proliferation, promote muscle regeneration and remodeling after injury. At the same time, autophagy disorder is also an important cause of age-related skeletal muscle atrophy. Autophagy could affect the response of skeletal muscle to exercise, and increasing the level of basic autophagy is beneficial to improve the adaptive response of skeletal muscle to exercise. This article summarizes the role and pathways of autophagy in the maintenance of skeletal muscle quality, in order to provide effective rehabilitation strategies for clinical prevention and treatment of muscle atrophy.

Reliability of the goutallier classification system in the evaluation of the multifidus muscle / Concordância da classificação de goutallier na avaliação do músculo multífido / Fiabilidad del sistema de clasificación de goutallier en la evaluación del músculo multífido

ABSTRACT Introduction: The paravertebral musculature is essential for the biomechanics and stability of the spine, and its involvement in the pathophysiology of spinal diseases has been demonstrated. Qualitative evaluation of muscle degeneration is usually performed by analyzing the fat infiltration rate proposed by the Goutallier classification system. Objective: The objective of this study is to analyze the intra- and interobserver agreement of the Goutallier Classification for the evaluation of fatty degeneration of the multifidus muscle, using magnetic resonance imaging exams. Methods: The study included 68 patients, all diagnosed with symptomatic disc hernia and indicated for surgery. Preoperative magnetic resonance images were used for the analyses. The images were initially evaluated by two orthopedists and two medical students, and then re-evaluated after two weeks. Intra- and inter-observer reliability analysis was performed using the Fleiss Kappa test and the Landis and Koch criteria. All the analyses were performed using the R statistical environment (R Development Core Team, version 3.3.1, 2016) and the significance level was set at 5%. Results: The percentages of intra- and inter-observer agreement were 86.76% and 61.03%, respectively. The intraobserver agreement was near perfect and the interobserver agreement was moderate. Conclusion: The Goutallier Classification System showed moderate interobserver and intraobserver agreement, being a relevant tool for the evaluation of paravertebral musculature fat replacement. Level of evidence II; Prospective study for diagnostic purposes.

RESUMO Introdução: A musculatura paravertebral é essencial para a biomecânica e estabilidade da coluna e tem sido demonstrado seu envolvimento na fisiopatologia das doenças da coluna vertebral. A avaliação qualitativa da degeneração muscular é usualmente feita pela análise da taxa de infiltração de gordura proposta pelo Sistema de Classificação de Goutallier. Objetivo: O objetivo deste trabalho é analisar a concordância intra e interobservador da Classificação de Goutallier para avaliação da degeneração gordurosa do músculo multífido por meio de exames de ressonância magnética. Métodos: Fizeram parte do estudo 68 pacientes, todos com diagnóstico de hérnia discal sintomática e com indicação cirúrgica. As imagens de ressonância magnética colhidas no pré-operatório foram analisadas por dois ortopedistas e dois estudantes de medicina e foram reavaliadas duas semanas depois. Foi realizada análise de confiabilidade intra e interobservador por meio do teste Kappa de Fleiss e pelos critérios de Landis e Koch. Todas as análises foram realizadas com o auxílio do ambiente estatístico R (R Development Core Team, versão 3.3.1, 2016), e o nível de significância foi fixado em 5%. Resultados: As porcentagens de concordância intra e interobservadores foram, respectivamente, 86,76% e 61,03%. A concordância intraobservador foi quase perfeita e moderada interobservadores. Conclusões: O Sistema de Classificação de Goutallier demonstrou concordância moderada interobservador e intraobservador, sendo uma ferramenta relevante na avaliação da substituição gordurosa da musculatura paravertebral. Nível de evidência II; Estudo prospectivo para fins diagnósticos.

RESUMEN Introducción: La musculatura paravertebral es fundamental para la biomecánica y la estabilidad de la columna y se ha demostrado su intervención en la fisiopatología de las enfermedades de la columna. La evaluación cualitativa de la degeneración muscular se suele realizar analizando la tasa de infiltración de grasa propuesta por el sistema de clasificación de Goutallier. Objetivo: El objetivo de este estudio es analizar la concordancia intra e interobservador de la Clasificación de Goutallier para evaluar la degeneración grasa del músculo multífido mediante resonancia magnética. Métodos: Formaron parte del estudio 68 pacientes, todos con diagnóstico de hernia discal sintomática y con indicación quirúrgica. Se utilizaron imágenes de resonancia magnética preoperatorias para el análisis. Las imágenes fueron evaluadas inicialmente por 02 ortopedistas y 02 estudiantes de medicina y, después de dos semanas, reevaluadas. El análisis de fiabilidad intra e interobservador se realizó mediante la prueba Kappa de Fleiss y los criterios de Landis y Koch. Todos los análisis se realizaron utilizando el entorno estadístico R (R Development Core Team, 2016), versión 3.3.1, y el nivel de significancia se estableció en 5%. Resultados: Los porcentajes de concordancia intra e interobservador fueron, respectivamente, 86,76% y 61,03%. La concordancia intraobservador fue casi perfecta y la concordancia interobservador fue moderada. Conclusión: el Sistema de Clasificación de Goutallier demostró una moderada concordancia interobservador e intraobservador, siendo una herramienta relevante en la evaluación del reemplazo graso de la musculatura paravertebral. Nivel de evidencia II; Estudio prospectivo con fines diagnósticos.

Todos los caminos conducen a la pérdida de masa muscular: desnutrición, fragilidad, sarcopenia y caquexia / All roads lead to loss of muscle mass: malnutrition, frailty, sarcopenia and cachexia

Las enfermedades crónicas degenerativas han ganado gran interés e importancia en el ámbito de la salud debido a la alta carga mundial de morbilidad y la gran tasa de discapacidad que las mismas generan. A su vez, la prevalencia de desnutrición afecta un 40-60% de los pacientes hospitalizados, lo que supone un aumento de los costos sanitarios, mayor morbimortalidad y aumento de las tasas de discapacidad. Diversos conceptos surgen en la literatura relacionando la pérdida de masa muscular, la enfermedad y la desnutrición. El objetivo del presente artículo es definir los conceptos de desnutrición, fragilidad, caquexia y sarcopenia. Se buscó describir su prevalencia, diferenciar los mecanismos que generan cada situación y su impacto en la composición corporal(AU)

Abstract Chronic degenerative diseases have won great interest and value in the field of health due to the high global burden of morbidity and the high rate of disability that they generate. At the same time, the prevalence of malnutrition affects 40-60% of hospitalized patients, which implies an increase in health costs, greater morbi mortality and an increase in disability rates. Various concepts emerge in the literature in which the loss of muscle mass, disease and malnutrition are related. The objective of this article is to define the concepts of malnutrition, frailty, cachexia and sarcopenia. The aim was to describe its prevalence, to differentiate the mechanisms that generate each situation and its impact on body composition(AU)

Effects of Rehmannia glutinosa polysaccharides on bone tissue structure and skeletal muscle atrophy in rats with disuse

ABSTRACT Purpose To study effects of Rehmannia glutinosa polysaccharides (RGP) on bone tissue structure and skeletal muscle atrophy in rats with disuse. Methods A rat model of disuse osteoporosis combined with muscle atrophy was established by removing the bilateral ovaries of rats and fixing their hind limbs for a long time. Forty SD rats were administered intragastrically for 12 weeks. The bone histomorphometry parameters and the level of oxidative stress were measured. In addition, the changes of muscle atrophy F-box (MAFbx), muscle RING-finger protein-1 (MuRF1), forkhead box O1 (FOXO1) mRNA expression in skeletal muscle of rats were observed. Results RGP significantly increased the percentage of fluorescence perimeter and bone mineralization deposition rate of the second lumbar vertebrae of rats. It also significantly increased the wet weight ratio and muscle fiber cross-sectional area of the gastrocnemius muscle of rats. At the same time, RGP significantly increased the levels of super oxide dismutase (SOD) and catalase (CAT) in the skeletal muscle of rats, and reduced the content of malondialdehyde (MDA). Rehmannia glutinosa polysaccharides also significantly reduced the expression levels of FOXO1, MAFbx and MuRF1 mRNA in rat skeletal muscle. Conclusions RGP could improve the bone structure of osteoporotic rats. It could also improve muscle that atrophy may be related to the inhibition of FOXO1-mediated ubiquitin-proteasome pathway.

Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay / Artrogripose múltipla congênita em bovinos Aberdeen Angus no Uruguai

Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)

Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)

Quadriceps muscle properties in rheumatoid arthritis: insights about muscle morphology, activation and functional capacity

Abstract Background: Rheumatoid arthritis (RA) is an inflammatory and chronic autoimmune disease that leads to muscle mass loss and functional capacity impairment, potentiated by physical inactivity. Despite evidences demonstrate neuromuscular impairments in RA patients, aging effects may have masked the results of similar previous studies. The aim of study was to verify (i) the effects of RA on functional capacity and muscle properties in middle-aged patients and (ii) the association between age, clinical characteristics, quadriceps muscle properties and functional capacity. Methods: Thirty-five RA women and 35 healthy age-matched women were compared with the following outcomes: (i) physical activity level through the International Physical Activity Questionnaire (IPAQ); (ii) timed-up and go (TUG) test; (iii) isometric knee extensor muscular strength; and (iv) vastus lateralis muscle activation and muscle architecture (muscle thickness, pennation angle and fascicle length) during an isometric test. An independent Student t-test and partial correlation (controlled by physical activity levels) were performed, with p < 0.05. Results: Compared with healthy women, RA presented (i) lower physical activity level (- 29.4%; p < 0.001); (ii) lower isometric knee extensor strength (- 20.5%; p < 0.001); (iii) lower TUG performance (- 21.7%; p < 0.001); (iv) smaller muscle thickness (- 23.3%; p < 0.001) and pennation angle (- 14.1%; p = 0.011). No differences were observed in muscle activation and fascicle length. Finally, the correlation demonstrated that, with exception of TUG, muscle strength and muscle morphology were not associated with age in RA, differently from healthy participants. Conclusion: Middle-aged RA patients' impairments occurred due to the disease independently of the aging process, except for functional capacity. Physical inactivity may have potentiated these losses.(AU)

Efeitos do exercício passivo precoce em cicloergômetro na espessura muscular do quadríceps femoral de pacientes críticos: estudo-piloto randomizado controlado / Efectos del ejercicio pasivo precoz en cicloergómetro en el espesor muscular del cuádriceps femoral de pacientes críticos: un estudio piloto aleatorizado controlado / Effects of early passive cycling exercise on quadriceps femoris thickness in critically ill patients: a controlled randomized pilot study

RESUMO O objetivo deste estudo foi avaliar os efeitos do exercício passivo precoce em cicloergômetro na espessura muscular (EM) do quadríceps femoral (EMQ) de pacientes críticos admitidos em uma Unidade de Terapia Intensiva (UTI) de um hospital universitário terciário. O método utilizado foi um estudo-piloto randomizado controlado conduzido em uma amostra de 24 pacientes (51±18,11 anos, 16 do sexo masculino), com 24 a 48 horas de ventilação mecânica (VM), aleatoriamente divididos em dois grupos: grupo-controle (n=12), que recebeu a fisioterapia convencional; e grupo-intervenção (n=12), que recebeu o exercício passivo em cicloergômetro, uma vez ao dia, durante o período de sete dias do protocolo, em adição à fisioterapia convencional. A EMQ foi mensurada através da ultrassonografia. A primeira medida ultrassonográfica foi realizada entre as primeiras 48 horas de VM e a segunda ao término do protocolo. Não houve diferenças significativas na EMQ esquerda (27,29±5,86mm vs. 25,95±10,89mm; p=0,558) e direita (24,96±5,59mm vs 25,9±9,21mm; p=0,682) do grupo-controle e na EMQ esquerda (27,2±7,38mm vs 29,57±7,89mm; p=0,299) e direita (26,67±8,16mm vs 28,65±8,04mm; p=0,381) do grupo-intervenção. Na comparação entre os grupos, não houve alterações significativas em relação à EMQ esquerda (3,61±1,07mm; p=0,248) e a EMQ direita (2,75±0,85mm; p=0,738). Os resultados deste estudo-piloto demonstraram que a aplicação precoce do exercício passivo em cicloergômetro não promoveu mudanças significativas na espessura da camada muscular avaliada. No entanto, nossos achados sinalizam que a fisioterapia convencional foi capaz de preservar a EMQ de pacientes críticos admitidos em UTI.

RESUMEN El presente estudio tuvo como objetivo evaluar los efectos del ejercicio pasivo precoz en cicloergómetro en el espesor muscular (EM) del cuádriceps femoral (EMC) de pacientes críticos ingresados en una Unidad de Cuidados Intensivos (UCI) de un hospital universitario terciario. Se utilizó como método un estudio piloto aleatorizado controlado con una muestra de 24 pacientes (51±18,11 años, 16 varones), con 24 a 48 horas de ventilación mecánica (VM), quienes fueron divididos aleatoriamente en dos grupos: grupo de control (n=12), que recibió fisioterapia convencional; y grupo intervención (n=12), que recibió el ejercicio pasivo en cicloergómetro una vez al día durante el período de protocolo de siete días, además de la fisioterapia convencional. El EMC se midió por ecografía. La primera medición ecográfica se realizó entre las primeras 48 horas de VM, y la segunda al final del protocolo. No hubo diferencias significativas en el EMC izquierdo (27,29±5,86 mm vs. 25,95±10,89mm; p=0,558) y derecho (24,96±5,59mm vs 25,9±9,21mm; p=0,682) del grupo de control; y en el EMC izquierdo (27,2±7,38mm vs 29,57±7,89mm; p=0,299) y derecho (26,67±8,16mm vs 28,65±8,04mm; p=0,381) del grupo intervención. En la comparación entre grupos, no hubo cambios significativos en el EMC izquierdo (3,61±1,07 mm; p=0,248) y en el EMC derecho (2,75±0,85 mm, p=0,738). Los resultados de este estudio piloto demostraron que la aplicación precoz del ejercicio pasivo en cicloergómetro no promovió cambios significativos en el espesor de la capa muscular evaluada. Sin embargo, nuestros hallazgos indican que la fisioterapia convencional pudo preservar el EMC de pacientes críticos ingresados en la UCI.

ABSTRACT The objective of this study was to evaluate the effects of early passive cycling exercise on quadriceps femoris thickness (QFT) in critically ill patients admitted in the intensive care unit (ICU) of a tertiary care university hospital. A controlled randomized pilot study was conducted with a sample of 24 patients (51±18.11 years, 16 male), on mechanical ventilation (MV) from 24 to 48 hours, who were randomly divided into two groups: control group (n=12), receiving conventional physical therapy; and an intervention one (n=12), receiving passive cycle ergometer, once a day, throughout seven days of protocol, in addition to conventional physical therapy. The QFT was measured by ultrasonography. The first ultrasonographic measurement was performed within 48 hours after the start of MV, and the second at the end of the protocol. There were no significant differences in QFT of the left (27,29±5,86mm vs 25,95±10,89mm; p=0,558) and right (24,96±5,59mm vs 25,9±9,21mm; p=0,682) in the control group, and in QFT of the left (27,2±7,38mm vs 29,57±7,89mm; p=0,299) and right (26,67±8,16mm vs 28,65±8,04mm; p=0,381) in the intervention group. There were no significant between-groups differences for left QFT (3,61±1,07mm; p=0,248) and right QFT (2,75±0,85mm; p=0,738). The results of this pilot study demonstrate that application of early passive cycle ergometer exercises has not significantly change the muscle layer thickness. However, our findings indicate that conventional physical therapy is able to preserve the quadriceps femoris thickness in critically ill patients admitted in ICU.

Tratamento da flacidez músculo aponeurótica acentuada da parede abdominal, experiência de 26 anos / Treatment of marked abdominal wall musculoaponeurotic flaccidity: 26 years of experience

Realizamos uma análise de quais são os elementos responsáveis pelo sustento e formato abdominal, determinando assim, que é devido a uma excessiva flacidez musculoaponeurótica de origem primária, à qual promove uma incapacidade do suporte da parede abdominal e pode estar relacionada a fatores predisponentes. Para esses casos específicos, desenvolvemos um tratamento propondo a colocação da tela e apresentando nossa experiência. Apresentamos esta série de casos de experiência em 26 anos. Onde 15 pacientes foram tratados com abdominoplastia primária e secundária. O reforço da parede abdominal foi realizado através da colocação de tela de polipropileno no plano submuscular com pontos em U na fáscia transversalis, buscando-se fortalecer o músculo e a fáscia transversa. Os resultados foram satisfatórios a longo prazo. Obtendo resolução das protuberâncias abdominais e restaurando a harmonia dos músculos. Apenas duas complicações ocorreram, que foram a presença de dor crônica localizada no abdome tratada com infiltrações de esteroides e fístula umbilical precoce de resolução rápida espontânea, independente da proposta.

We investigated the causative factors of abdominal support and shape and found that excessive musculoskeletal flaccidity of primary origin causes an inability to support the abdominal wall and may be associated with the predisposing factors. For such cases, we developed a treatment consisting of the placement of a subcutaneous mesh. Here, we present our experience with this treatment. We present a case series of 15 patients in our 26 years of experience who were treated with primary and secondary abdominoplasties. The abdominal wall was reinforced by placing a polypropylene mesh in the submuscular plane with U-stitches in the transversalis fascia, aiming at strengthening the muscle and transverse fascia. The results were satisfactory in the long term. Abdominal bulges were repaired, and muscle harmony was restored. Only two complications occurred: chronic pain localized in the abdomen, which was treated with steroid infiltrations, and an early umbilical fistula with spontaneous and rapid resolution, regardless of the proposal.

Thumb adductor muscle thickness used in the nutritional assessment of chronic kidney disease patients under conservative treatment / Espessura do músculo adutor do polegar para avaliação nutricional de portadores de doença renal crônica em tratamento conservador

Abstract Introduction: Evaluate the association between the thumb adductor muscle thickness and the patient's nutritional status, and propose cutoff points for muscle mass depletion in elderly patients with chronic kidney disease (CKD) under conservative treatment. Epidemiological and cross-sectional study, including patients with CKD stages 3 to 5, older than 60 years. Socioeconomic, clinical, physical activity and anthropometric data was obtained. TAMT was described and compared according to CKD stage, socioeconomic data, physical activity, nutritional status and correlated with age, glomerular filtration rate and anthropometric variables. Receiver Operating Characteristic (ROC) curves were produced, considering the lean tissue index classification as reference. The cut-off point was defined by the Youden index. Results: We evaluated 137 individuals. The TAMT was lower in malnourished and/or depleted muscle mass individuals; among males it was higher among those who practiced physical activities (p <0.05). This measure was moderately correlated with BMI, calf and brachial circumferences, lean body tissue, lean tissue index and body cell mass (r <0.7); negatively with age (r = -0.34). The ROC curve analysis determined cut points of 15.33 mm for females and 20.33 mm for males, with 72.22% and 62.50% accuracy, respectively. Conclusion: TAMT is used to estimate muscle mass and we suggest the cutoff point is useful to rule out the likelihood of muscle mass depletion. It is recommended that it be used in a complementary way in nutritional assessment.

Resumo Introdução: Avaliar a associação da espessura do músculo adutor do polegar (EMAP) com o estado nutricional e propor pontos de corte para depleção de massa muscular em idosos portadores da doença renal crônica (DRC) em tratamento conservador. Metodologia: Estudo epidemiológico, delineamento transversal, incluindo portadores de DRC estágios 3 a 5, acima de 60 anos. Obteve-se dados socioeconômicos, clínicos, prática de atividade física e antropométricos. A EMAP foi descrita e comparada de acordo com o estágio da DRC, dados socioeconômicos, atividade física e estado nutricional e correlacionada com idade, taxa de filtração glomerular e variáveis antropométricas. Foram produzidas curvas Receiver Operating Characteristic (ROC), considerando como padrão de referência a classificação do índice de tecido magro. O ponto de corte foi definido pelo índice Youden. Resultados: Avaliou-se 137 indivíduos. A EMAP foi inferior nos desnutridos e/ou com depleção de massa muscular; no sexo masculino foi superior nos praticantes de atividade física (p<0,05). A medida se correlacionou moderadamente com IMC, circunferência da panturrilha e braquial, tecido de massa magra, índice de tecido magro e massa celular corporal (r<0,7), e negativamente com a idade (r=-0,34). A análise da curva ROC determinou pontos de corte de 15,33 mm para o sexo feminino e 20,33 mm para o masculino, com acurácia de 72,22% e 62,50%, respectivamente. Conclusão: A EMAP serve para estimar a massa muscular, e o ponto de corte sugerido é útil para afastar a probabilidade de depleção de massa muscular. Recomenda-se que seja utilizada de forma complementar na avaliação nutricional.

The Volume of Subscapularis Muscle Remains Unaffected by Supraspinatus Tendon Tears: Three-dimensionally Reconstructed Magnetic Resonance Imaging Analysis

BACKGROUND: This study aimed to compare the subscapularis muscle volume between the intact groups (group I) and supraspinatus tendon tear groups (group T) based on the sex and three different age groups. METHODS: Subjects with a group I and subjects with group T without any other lesions were retrospectively evaluated from among patients who received a magnetic resonance imaging (MRI) scan between January 2011 and December 2013. The MRI scans were studied by a consultant radiologist. The subscapularis muscle volume was compared according to the age and sex; the age groups were categorized as patients in their 40s, 50s, and 60s. The volume of subscapularis muscle was measured by three-dimensional reconstructed images acquired through the axial section of 1.5T MRI. RESULTS: No statistically significant differences were observed between subscapularis muscle volume of the group I and group T, except for male patients in their 50s (group I: 100,650 mm3 vs. group T: 106,488 mm3) and 60s (group I: 76,347 mm3 vs. group T: 99,549 mm3) (p<0.05). Males had a larger mean volume of subscapularis muscle than females, and the subscapularis muscle volume decreased in a linear manner with increasing age. CONCLUSIONS: Decrease in subscapularis muscle volume was observed with increasing age, and the impact of supraspinatus tear on subscapularis muscle volume is age and sex dependent.

Short-term creatine supplementation changes protein metabolism signaling in hindlimb suspension

The effect of a short-term creatine supplementation on hindlimb suspension (HS)-induced muscle atrophy was investigated. Creatine monohydrate (5 g/kg b.w. per day) or placebo, divided in 2 daily doses, was given by oral gavage for 5 days. Rats were maintained in HS with dietary supplementation concomitantly for 5 days. Body weight, soleus and EDL muscle masses, and cross-sectional areas (CSA) of the muscle fibers were measured. Signaling pathways associated with skeletal muscle mass regulation (FST, MSTN, FAK, IGF-1, MGF, Akt, mTOR, atrogin-1, and MuRF1 expressions, and Akt, S6, GSK3B, and 4EBP1 proteins) were evaluated in the muscles. Soleus muscle exhibited more atrophy than the EDL muscle due to HS. Creatine supplementation attenuated the decrease of wet weight and increased p-4EBP1 protein in the EDL muscle of HS rats. Also, creatine increased mTOR and atrogin-1 expressions in the same muscle and condition. In the absence of HS, creatine supplementation increased FAK and decreased MGF expressions in the EDL muscle. Creatine attenuated the increase in FST expression due to HS in the soleus muscle. MuRF1 expression increased in the soleus muscle due to creatine supplementation in HS animals whereas atrogin-1 expression increased still further in this group compared with untreated HS rats. In conclusion, short-term creatine supplementation changed protein metabolism signaling in soleus and EDL muscles. However, creatine supplementation only slightly attenuated the mass loss of both muscles and did not prevent the CSA reduction and muscle strength decrease induced by HS for 5 days.

Elevated serum Activin A in chronic obstructive pulmonary disease with skeletal muscle wasting

OBJECTIVE: Muscle wasting contributes to the reduced quality of life and increased mortality in chronic obstructive pulmonary disease (COPD). Muscle atrophy in mice with cachexia was caused by Activin A binding to ActRIIB. The role of circulating Activin A leading to muscle atrophy in COPD remains elusive. METHODS: In the present study, we evaluated the relationship between serum levels of Activin A and skeletal muscle wasting in COPD patients. The expression levels of serum Activin A were measured in 78 stable COPD patients and in 60 healthy controls via ELISA, which was also used to determine the expression of circulating TNF-α levels. Total skeletal muscle mass (SMM) was calculated according to a validated formula by age and anthropometric measurements. The fat-free mass index (FFMI) was determined as the fat-free mass (FFM) corrected for body surface area. RESULTS: Compared to the healthy controls, COPD patients had upregulated Activin A expression. The elevated levels of Activin A were correlated with TNF-α expression, while total SMM and FFMI were significantly decreased in COPD patients. Furthermore, serum Activin A expression in COPD patients was negatively associated with both FFMI and BMI. CONCLUSION: The above results showed an association between increased circulating Activin A in COPD patients and the presence of muscle atrophy. Given our previous knowledge, we speculate that Activin A contributes to skeletal muscle wasting in COPD.

Effects of physical exercise on skeletal muscles of rats with cerebral ischemia

Physical exercise is a known preventive and therapeutic alternative for several cerebrovascular diseases. Therefore, the objective of the present study was to evaluate the motor performance and histomorphometry of the biceps brachii, soleus, and tibialis anterior muscles of rats submitted to a treadmill training program prior to the induction of cerebral ischemia via occlusion of the middle cerebral artery (OMCA). A total of 24 Wistar rats were distributed into four groups: Sham-Sed: sedentary control animals (n=6), who underwent sham surgery (in which OMCA did not occur); Sham+Ex: control animals exercised before the sham surgery (n=6); I-Sed: sedentary animals with cerebral ischemia (n=6); and I+Ex: animals exercised before the induction of ischemia (n=6). The physical exercise consisted of treadmill training for five weeks, 30 min/day (5 days/week), at a speed of 14 m/min. The results showed that the type-I fibers presented greater fiber area in the exercised ischemic group (I+Ex: 2347.96±202.77 µm2) compared to the other groups (Sham-Sed: 1676.46±132.21 µm2; Sham+Ex: 1647.63±191.09 µm2; I+Ex: 1566.93±185.09 µm2; P=0.0002). Our findings suggested that the angiogenesis process may have influenced muscle recovery and reduced muscle atrophy of type-I fibers in the animals that exercised before cerebral ischemia.