Effect of Long-term Peripheral Nerve Stimulation on Neuro-Muscular Complex Morphologic Recovery in Experiment / Efecto de la Estimulación del Nervio Periférico a Largo Plazo sobre la Recuperación Morfológica del Complejo Neuromuscular en Experimento

SUMMARY: Peripheral nerve injury is an extremely important medical and socio-economic problem. It is far from a solution, despite on rapid development of technologies. To study the effect of long-term electrical stimulation of peripheral nerves, we used a domestically produced electrical stimulation system, which is approved for clinical use. The study was performed on 28 rabbits. Control of regeneration was carried out after 3 month with morphologic techniques. The use of long-term electrostimulation technology leads to an improvement in the results of the recovery of the nerve trunk after an injury, both directly at the site of damage, when stimulation begins in the early period, and indirectly, after the nerve fibers reach the effector muscle.

La lesión de los nervios periféricos es un problema médico y socioeconómico extremadamente importante. Sin embargo, y a pesar del rápido desarrollo de las tecnologías, aún no tiene solución. Para estudiar el efecto de la estimulación eléctrica a largo plazo de los nervios periféricos, utilizamos un sistema de estimulación eléctrica de producción nacional, que está aprobado para uso clínico. El estudio se realizó en 28 conejos. El control de la regeneración se realizó a los 3 meses con técnicas morfológicas. El uso de tecnología de electro estimulación a largo plazo conduce a una mejora en los resultados de la recuperación del tronco nervioso después de una lesión, tanto directamente en el lugar del daño, cuando la estimulación comienza en el período temprano, como indirectamente, después de que las fibras nerviosas alcanzan el músculo efector.

Advances in Neuromuscular Electrical Stimulation in Post-Stroke Movement Disorders / 中山大学学报(医学科学版)

In recent years， the incidence of stroke patients in China is increasing， and the motor dysfunction caused by it often seriously affects the quality of daily life of the patients， Neuromuscular electrical stimulation （NMES）， as an emerging rehabilitation therapy， is widely used in the treatment of motor dysfunction in stroke patients. This paper summarizes the parameters and mechanisms of the role of NMES in motor function rehabilitation after stroke and its use in clinical practice. In the future， the specific mechanism of NMES action and efficient and safe therapeutic options should be further explored.

Ankle-foot orthosis in patients with Duchenne muscular dystrophy: a retrospective study / Órtese tornozelo-pé em pacientes com distrofia muscular de Duchenne: um estudo retrospectivo

Abstract Introduction: Duchenne muscular dystrophy (DMD) is a recessive genetic disease linked to the X chromosome, leading to progressive muscle tissue loss. Initially, there is difficulty getting up from the floor and an increased frequency of falls. Maintaining ambulation as long as possible is essential, and the use of ankle-foot orthosis (AFO) has been investigated as an ally in this process. Objective: To verify the prescription and use of an AFO for ambulant boys with DMD. Methods: Information was collected using the medical records of 181 patients with DMD from the Neuropediatric Service of the Instituto de Puericultura e Pediatria Martagão Gesteira of the Universidade Federal do Rio de Janeiro. Variables used were: age at the first medical appointment, age at first symptoms, age at loss of independent gait, time between the first symptoms and loss of gait, prescription of orthosis, time of use, and surgical intervention in the lower limbs. Results: The orthosis was prescribed for 63.5% of patients and used by 38.1%. The range of orthosis time was 2 to 4 years (62.3%). The night sleep period was the most prescribed for orthosis use, with 67.2%. Patients who used the orthosis for a longer time were older at gait loss. However, the children who arrived earlier for the first appointment had a higher frequency of orthosis prescriptions and later loss of gait. Conclusion: The use of AFO can help maintain ambulation for longer in boys with DMD.

Resumo Introdução: A distrofia muscular de Duchenne (DMD) é uma doença genética recessiva ligada ao cromossomo X, que cursa com a perda progressiva do tecido muscular. Inicialmente, observa-se dificuldade para levantar do chão e aumento dafrequência de quedas. A manutenção da deambulação pelo maior tempo possível é importante e o uso de órtese tornozelo-pé (OTP) tem sido investigado como aliado nesse processo. Objetivo: Verificar a prescrição e uso de OTP para meninos deambulantes com DMD. Métodos: As informações foram coletadas dos prontuários de 181 pacientes com DMD do Serviço de Neuropediatria do Instituto de Puericultura e Pediatria Martagão Gesteira, da Universidade Federal do Rio de Janeiro. As variáveis utilizadas foram: idade na primeira consulta, idade aos primeiros sintomas, idade na perda da marcha independente, tempo entre os primeiros sintomas e a perda da marcha, prescrição de órtese, tempo de uso e intervenção cirúrgica nos membros inferiores. Resultados: A órtese foi prescrita para 63,5% dos pacientes e utilizada por 38,1%. A variação do tempo de uso foi de 2 a 4 anos (62,3%). O período noturno foi o mais prescrito para uso da órtese, com 67,2%. Os pacientes que a usaram por mais tempo apresentaram maiores idades na perda da marcha. Crianças que chegaram mais precocemente à primeira consulta tiveram maior frequência de prescrição de órtese e perda da marcha mais tardiamente. Conclusão: O uso de OTP pode ajudar a manter a deambulação por mais tempo em meninos com DMD.

Rehabilitation interventions targeting the activity and participation of patient with neuromuscular diseases: what do we know? A systematic review / Reabilitação com foco na atividade e participação para pessoas com doenças neuromusculares: o que sabemos? Uma revisão sistemática

Abstract Background To be objective and achievable, the rehabilitation goals must be focused on the functional expectations of patients with neuromuscular disease (NMD). Objective Investigate rehabilitation programs that are able to modify the activity/participation of patients with NMD. Data search: Embase, BVS/Lilacs, Physiotherapy Evidence Database (PEDro), CINAHL/EBSCO, and Medline were searched in June 2021. It was last updated in March 2023. Methods Randomized controlled trials investigating any rehabilitation therapy for patients with NMD with an outcome encompassing the activity/participation components of the International Classification of Functioning, Disability and Health (ICF) were included. Pharmacological therapy studies were excluded. The results were synthesized according to the ICF core sets for NMD. The methodological quality and level of evidence were assessed using PEDro criteria and Grading of Recommendations Assessment, Development, and Evaluation (GRADE). This systematic review followed the PRISMA 2020 guideline and was registered at PROSPERO (CRD42020209359). Results Of a total of 1943 identified studies, 12 were included in this review with a methodological quality between regular and good. Light to moderate-intensity aerobic exercise was the most studied intervention. The mobility was assessed in all included studies. Conclusion The variability of the types of NMD and the small sample size of the included studies demonstrates that there is very limited evidence of interventions focused on the activity/participation of individuals with NMD. Light to moderate-intensity aerobic exercise seems to improve the mobility, self-care, and social participation of patients with NMD, especially those with slow progression.

Resumo Antecedentes As metas de reabilitação devem ser focadas nas expectativas funcionais de pessoas com doenças neuromusculares (DNM) para que sejam objetivas e alcançáveis. Objetivo Investigar programas de reabilitação capazes de modificar a atividade/participação de pessoas com DNM. Foi realizada busca nas bases de dados: Embase, BVS/Lilacs, Physiotherapy Evidence Database (PEDro), CINAHL/EBSCO e Medline em junho/2021. A última atualização foi realizada em março de 2023. Métodos Foram incluídos estudos clínicos randomizados investigando qualquer terapia de reabilitação para pessoas com DNM com desfecho voltado para atividade/participação da Classificação Internacional de Funcionalidade e Saúde (CIF). Terapias farmacológicas foram excluídas. Os resultados foram sintetizados de acordo com os Core Sets da CIF para DNM. A qualidade metodológica e o nível de evidência foram avaliados usando os critérios PEDro e Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Esta revisão sistemática foi registrada na PROSPERO (CRD42020209359). Resultados De 1943 estudos identificados, 12 foram incluídos com uma qualidade metodológica entre regular e boa. O exercício aeróbio de intensidade leve a moderada foi a intervenção mais estudada. A mobilidade foi avaliada em todos os estudos incluídos. Conclusão A variabilidade dos tipos de DNM e o baixo número amostral dos estudos incluídos contribuem para uma evidência muito limitada de intervenções focadas na atividade/participação de pessoas com DNM. O exercício aeróbio de baixa a moderada intensidade parece melhorar a mobilidade, autocuidado e participação de pessoas com DNM, especialmente para as DNM de progressão lenta.

Protocolos de rehabilitación y fisioterapia en pacientes afectados por COVID-19

La COVID-19 representa una emergencia internacional por los crecientes números de contagiados y fallecidos a nivel mundial. Los pacientes recuperados pueden sufrir afectaciones y secuelas respiratorias, cardiacas y neurológicas, lo que afecta su calidad de vida. El objetivo de este artículo consistió en reconstruir los protocolos de rehabilitación y fisioterapia respiratoria, cardiovascular, neurológica y neuromuscular para pacientes afectados por COVID-19, a partir de evidencias científicas reportadas. Para ello, se realizó una revisión bibliográfica en las principales bases de datos internacionales (PubMed, SciELO, Google Académico, ente otras). Para la búsqueda se utilizaron las palabras claves: COVID-19, síndrome de distrés respiratorio agudo, fisioterapia, rehabilitación respiratoria, Rehabilitación cardiovascular, rehabilitación neuromuscular y neurológica, en inglés y en español. Estos protocolos atribuyen mejorías significativas de las secuelas y en la calidad de vida de los pacientes. Se recomiendan ejercicios de fisioterapia respiratoria en posición decúbito-prono, entrenamiento de músculos inspiratorios, ejercicios aeróbicos y entrenamiento moderado de fuerza muscular. Los resultados de la aplicación de estos protocolos son satisfactorios en la recuperación de los pacientes.

A COVID-19 representa uma emergência internacional devido ao número crescente de pessoas infectadas e falecidas em todo o mundo. Os pacientes recuperados podem sofrer efeitos e sequelas respiratórias, cardíacas e neurológicas, o que afeta sua qualidade de vida. O objetivo deste artigo foi reconstruir os protocolos de reabilitação respiratória, cardiovascular, neurológica e neuromuscular e de fisioterapia para pacientes afetados pela COVID-19, com base em evidências científicas relatadas. Para tanto, foi realizada uma revisão bibliográfica nas principais bases de dados internacionais (PubMed, SciELO, Google Scholar, entre outras). As palavras-chave foram utilizadas para a busca: COVID-19, síndrome do desconforto respiratório agudo, fisioterapia, reabilitação respiratória, reabilitação cardiovascular, reabilitação neuromuscular e neurológica, nos idiomas inglês e espanhol. Esses protocolos atribuem melhorias significativas nas sequelas e na qualidade de vida dos pacientes. São recomendados exercícios de fisioterapia respiratória em posição prona, treinamento muscular inspiratório, exercícios aeróbicos e treinamento moderado de força muscular. Os resultados da aplicação desses protocolos são satisfatórios na recuperação dos pacientes.

The COVID-19 represents an international emergency due to the increasing numbers of infected and deceased people worldwide. Recovered patients may suffer respiratory, cardiac and neurological effects and sequelae, which affects their quality of life. The objective of this article was to reconstruct the respiratory, cardiovascular, neurological and neuromuscular rehabilitation and physiotherapy protocols for patients affected by COVID-19, based on reported scientific evidence. For it, a bibliographic review was carried out in the main international databases (PubMed, sciELO, Google Scholar, among others). The key words were used for the search: COVID-19, acute respiratory distress syndrome, physiotherapy, respiratory rehabilitation, cardiovascular rehabilitation, neuromuscular and neurological rehabilitation, in English and Spanish. These protocols attribute significant improvements in sequelae and in the quality of life of patients. Respiratory physiotherapy exercises in the prone position, inspiratory muscle training, aerobic exercises and moderate muscle strength training are recommended. The results of the application of these protocols are satisfactory in the recovery of patients.

Electrophysiological evaluation of the neuromuscular junction: a brief review / Avaliação eletrofisiológica da junção neuromuscular: breve revisão

Abstract The nerve terminal and muscle membrane compose the neuromuscular junction. After opening the voltage-gated calcium channels, action potentials from the motor axons provoke a cascade for the acetylcholine release from synaptic vesicles to the synaptic cleft, where it binds to its receptor at the muscle membrane for depolarization. Low amplitude compound muscle action potential typically presents in presynaptic disorders, increasing by more than 100% after a 10-second effort in the Lambert-Eaton myasthenic syndrome and less in botulism. Needle electromyography may show myopathic motor unit action potentials and morphological instability ("jiggle") due to impulse blocking. Low-frequency repetitive nerve stimulation (RNS) is helpful in postsynaptic disorders, such as myasthenia gravis and most congenital myasthenic syndromes, where the number of functioning acetylcholine receptors is reduced. Low-frequency RNS with a decrement >10% is abnormal when comparing the 4th to the first compound muscle action potential amplitude. High-frequency RNS is helpful in presynaptic disorders like Lambert-Eaton myasthenic syndrome, botulism, and some rare congenital myasthenic syndromes. The high-frequency RNS releases more calcium, increasing the acetylcholine with a compound muscle action potential increment. Concentric needle records apparent single-fiber action potentials (spikes). A voluntary activation measures the jitter between spikes from two endplates. An electrical activation measures the jitter of one spike (one endplate). The jitter is the most sensitive test for detecting a neuromuscular junction dysfunction. Most neuromuscular junction disorders are responsive to treatment.

Resumo O nervo terminal e a membrana muscular compõem a junção neuromuscular. Após a abertura dos canais de cálcio dependentes de voltagem, os potenciais de ação do axônio motor provocam uma cascata de eventos que libera acetilcolina das vesículas para a fenda sináptica, ligando-se ao receptor na membrana muscular para despolarização. O potencial de ação muscular composto de baixa amplitude ocorre nas desordens pré-sinápticas, aumentando em mais de 100% após esforço de 10 segundos na síndrome miastênica de Lambert-Eaton e menos no botulismo. A eletromiografia pode mostrar potenciais de ação da unidade motora miopáticos e instabilidade morfológica ("jiggle") devido ao bloqueio do impulso. Estimulação nervosa repetitiva (ENR) de baixa frequência é útil nos distúrbios pós-sinápticos, como miastenia gravis e a maioria das síndromes miastênicas congênitas, quando há número reduzido de receptores de acetilcolina funcionantes. ENR de baixa frequência com decremento >10% é anormal comparando-se à amplitude do quarto com o primeiro potencial de ação muscular composto. ENR de alta frequência é útil nas doenças pré-sinápticas, como síndrome miastênica de Lambert-Eaton, botulismo e algumas síndromes miastênicas congênitas raras. ENR de alta frequência libera mais cálcio, aumenta acetilcolina, resultando em incremento do potencial de ação muscular composto. O eletrodo de agulha concêntrico registra potenciais de ação aparente de fibra única (PAAFU). Ativação voluntária mede jitter entre dois PAAFUs (duas junções neuromusculares). Ativação elétrica mede jitter de um PAAFU (uma junção neuromuscular). Jitter é o teste mais sensível para detectar disfunção de junção neuromuscular. A maioria dos distúrbios juncionais é responsiva ao tratamento.

Debilidad neuromuscular del paciente crítico post covid-19: resultados de recuperación funcional en dos centros de tercer nivel / Neuromuscular weakness in the critically post COVID-19 patient: functional recovery results in two third-level Centers

Resumen Introducción : La efectividad de las terapias de reha bilitación física sobre los pacientes que requirieron ven tilación mecánica prolongada y egresaron de Unidad de Cuidados Intensivos (UCI) con debilidad neuromuscular post COVID-19 se conoce principalmente en el perio do agudo. El objetivo de este estudio fue caracterizar la recuperación funcional en personas con debilidad neuromuscular post UCI por COVID-19 admitidas a rehabilitación. Métodos : Estudio retrospectivo que incluyó a 42 pa cientes con debilidad neuromuscular post COVID-19, de dos centros de rehabilitación de tercer nivel, desde abril de 2020 hasta abril de 2022. Resultados : Encontramos diferencias estadísticamen te significativas entre las valoraciones funcionales de ingreso y alta. La Medida de Independencia Funcional (FIM) mejoró de 49 [41-57] a 107 [94-119] (p < 0.001). La escala de Berg de 4 [1-6] a 47 [36-54] (p < 0.001), el test de 6 minutos de 0 [0-0] a 254 [167-400] (p < 0.001), y el test de 10 metros de 0 [0-0] a 0.83 [0.4-1.2] (p < 0.001). No hubo diferencias estadísticamente significativas entre la puntuación total al ingreso y al alta de las evaluaciones funcionales con la edad y la complejidad respiratoria. Discusión : El tratamiento para la recuperación fun cional en un centro de tercer nivel y larga duración, sería beneficioso para personas con grave debilidad neuromuscular post UCI a causa del COVID-19, a pesar que el 43% no alcanzó el nivel de movilidad previo. La edad y la complejidad respiratoria son variables que no impactaron en la recuperación final.

Abstract Introduction : The effectiveness of physical rehabi litation therapies on patients who required prolonged mechanical ventilation and were discharged from the Intensive Care Unit (ICU) with post-COVID-19 neuro muscular weakness is known in the acute period. The objective of this study was to characterize the functional recovery in people hospitalized with post-ICU neuro muscular weakness due to COVID-19 admitted to rehab. Methods : Retrospective study which included 42 patients with post-COVID-19 neuromuscular weakness, who were admitted to two tertiary care rehabilitation centers, from April 2020 to April 2022. Results : We found statistically significant differen ces between the functional evaluations of admission and discharge. The Functional Independence Measure improved from 49 [41-57] a 107 [94-119] (p < 0.001). The Berg scale from 4 [1-6] a 47 [36-54] (p < 0.001), the 6-mi nute test from 0 [0-0] a 254 [167-400] (p < 0.001), and 421 the 10-meter test from 0 [0-0] a 0.83 [0.4-1.2] (p < 0.001). There were no statistically significant differences bet ween the admission and discharge total score of the functional assessments with age and respiratory com plexity. Discussion : Treatment for functional recovery in a tertiary and long-term center is beneficial for people with severe post-ICU neuromuscular weakness due to COVID-19, even though 43% did not reach the previous level of mobility. Age and respiratory complexity are variables that did not impact the final recovery.

Conocimiento y manejo de cuidados respiratorios especializados en pacientes con enfermedades neuromusculares en unidades de cuidado intensivo: aproximación por encuesta a profesionales de la salud

Introducción: En las enfermedades neuromusculares la disminución de la capacidad vital se relaciona con dismunición de la capacidad tusígena y luego ventilatoria, la combinación de ambas genera complicaciones graves por falla ventilatoria. En los pacientes que son intubados, limita la extubación, sino se realizan cuidados respiratorios especializados. El conocimiento y aplicación de los profesionales que atienden a estos pacientes en cuidados intensivos resulta esencial. Objetivos: Reportar el conocimiento y aplicación especializada de cuidados respiratorios en enfermedades neuromusculares en las Unidades de Cuidados Intensivos. Materiales y métodos: Estudio cualitativo, descriptivo de corte transversal, no probabilístico, a criterio. La población accesible fueron profesionales de la Salud de las Unidades de Cuidados Intensivos, y el análisis de las respuestas de una encuesta estructurada, enviada a distintos profesionales a nivel mundial. Resultados: Se incluyeron los cuestionarios de 41 profesionales, el 34% de los profesionales reportaron la utilización regular de Asistente Mecánico de la Tos; 22% refirieron la utilización regular de apilamiento de aire; 31% reportaron la utilización regular de Asistencia Ventilatoria No Invasiva, 56.1% de los profesionales afirmaron conocer la diferencia entre Ventilación No Invasiva y Soporte Ventilatorio No Invasivo, 34% de los profesionales refirieron tener formación especializada en el área. Conclusión: Pese a existir una alta proporción de profesionales con conocimiento especializado, un grupo importante no los aplica rutinariamente. La justificación es principalmente por la dificultad de adquisición y financiación de los equipos necesarios.

Introduction: In neuromuscular diseases, the decrease in vital capacity relates to decreased coughing and then ventilatory capacity, the combination of both generating serious complications due to ventilatory failure. In intubated patients, the extubation process is difficult unless specialized respiratory care is provided. The knowledge and treatment application of the professionals who care for these patients in intensive care is of outmost importance. Objectives: Report the knowledge and specialized application of respiratory care in neuromuscular diseases in Intensive Care Units. Materials and methods: Qualitative, descriptive, cross-sectional, non-probabilistic study, at criteria. The accessible population were Health professionals from the Intensive Care Units, and the analysis of the responses of a structured survey, sent to different professionals worldwide. Results: The questionnaires of 41 professionals were included, 34% of the professionals reported the regular use of the Mechanical Cough Assistant; 22% reported the regular use of air stacking; 31% reported the regular use of Non-Invasive Ventilatory Assistance. 56.1% of the professionals stated that they knew the difference between Non-Invasive Ventilation and Non-Invasive Ventilatory Support, 34% of the professionals reported having specialized training in the area. Conclusion: Despite the existence of a high proportion of professionals with specialized knowledge, an important group does not routinely apply them. The justification is mainly due to the difficulty of acquiring and financing the necessary equipment.

Conocimiento y manejo de cuidados respiratorios especializados en pacientes con enfermedades neuromusculares en unidades de cuidado intensivo: aproximación por encuesta a profesionales de la salud / Knowledge and management in specialized respiratory care of patients with neuromuscular diseases in intensive care units: survey to health professionals

Introducción: En las enfermedades neuromusculares la disminución de la capacidad vital se relaciona con disminución de la capacidad tusígena y luego ventilatoria, la combinación de ambas genera complicaciones graves por falla ventilatoria. En los pacientes que son intubados, limita la extubación, sino se realizan cuidados respiratorios especializados. El conocimiento y aplicación de los profesionales que atienden a estos pacientes en cuidados intensivos resulta esencial. Objetivos: Reportar el conocimiento y aplicación especializada de cuidados respiratorios en enfermedades neuromusculares en las Unidades de Cuidados Intensivos. Materiales y métodos: Estudio cualitativo, descriptivo de corte transversal, no probabilístico, a criterio. La población accesible fueron profesionales de la Salud de las Unidades de Cuidados Intensivos, y el análisis de las respuestas de una encuesta estructurada, enviada a distintos profesionales a nivel mundial. Resultados: Se incluyeron los cuestionarios de 41 profesionales, el 34% de los profesionales reportaron la utilización regular de Asistente Mecánico de la Tos; 22% refirieron la utilización regular de apilamiento de aire; 31% reportaron la utilización regular de Asistencia Ventilatoria No Invasiva, 56.1% de los profesionales afirmaron conocer la diferencia entre Ventilación No Invasiva y Soporte Ventilatorio No Invasivo, 34% de los profesionales refirieron tener formación especializada en el área. Conclusión: Pese a existir una alta proporción de profesionales con conocimiento especializado, un grupo importante no los aplica rutinariamente. La justificación es principalmente por la dificultad de adquisición y financiación de los equipos necesarios.

Introduction: In neuromuscular diseases, the decrease in vital capacity relates to decreased coughing and then ventilatory capacity, the combination of both generating serious complications due to ventilatory failure. In intubated patients, the extubation process is difficult unless specialized respiratory care is provided. The knowledge and treatment application of the professionals who care for these patients in intensive care is of outmost importance. Objectives: Report the knowledge and specialized application of respiratory care in neuromuscular diseases in Intensive Care Units. Materials and methods: Qualitative, descriptive, cross-sectional, non-probabilistic study, at criteria. The accessible population were Health professionals from the Intensive Care Units, and the analysis of the responses of a structured survey, sent to different professionals worldwide. Results: The questionnaires of 41 professionals were included, 34% of the professionals reported the regular use of the Mechanical Cough Assistant; 22% reported the regular use of air stacking; 31% reported the regular use of Non-Invasive Ventilatory Assistance. 56.1% of the professionals stated that they knew the difference between Non-Invasive Ventilation and Non-Invasive Ventilatory Support, 34% of the professionals reported having specialized training in the area. Conclusion: Despite the existence of a high proportion of professionals with specialized knowledge, an important group does not routinely apply them. The justification is mainly due to the difficulty of acquiring and financing the necessary equipment.

El difícil camino al diagnóstico del paciente con atrofia muscular espinal / The difficult path to diagnosis of the patient with spinal muscular atrophy

Introducción. Con las nuevas terapias, el diagnóstico temprano de la atrofia muscular espinal (AME) es esencial. El objetivo de este estudio es analizar los distintos componentes que influyen en el retraso diagnóstico. Población y métodos. Se incluyeron pacientes con un diagnóstico molecular de AME tipo I, II y III. Se estudiaron varios parámetros, como la edad al momento de la aparición del primer signo, qué signo fue y el intervalo entre este y el diagnóstico confirmado. Neurólogos especialistas realizaron entrevistas que se complementaron con la revisión de historias clínicas cuando fue necesario. Resultados. Se entrevistaron 112 pacientes. AME I n = 40, AME II n = 48, AME III n = 24. La mediana de edad en meses al momento del reporte del primer signo fue AME I: 1,5 (R 0-7), AME II: 9 (R 2-20), AME III: 18 (R 8-180). Los primeros signos fueron reconocidos por los padres en el 75 % al 85 % de las veces en todos los subtipos. La mediana del tiempo transcurrido entre el primer signo y la primera consulta médica fue menor a un mes en los tres tipos. La mediana de tiempo transcurrido en meses entre el primer signo y el diagnóstico molecular confirmado fue en AME I: 2 (R 0-11), en AME II: 10 (3-46) y en AME III: 31,5 (R 4-288). Conclusiones. Existe un significativo retraso en el diagnóstico de la AME relacionado fundamentalmente a la falta de sospecha clínica. La demora es menor en AME I y mayor en AME III. Otros factores incluyen deficiencias en el sistema de salud.

Introduction. News treatments, make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyze the different factors that influence delay in diagnosis. Population and methods. Patients with a molecular diagnosis of types I, II, and III SMA were included. Several parameters were studied, such as age at onset of first sign, what sign it was, and the time from recognition of first sign to confirmed diagnosis. Neurologists specialized in SMA conducted interviews, supported by the review of medical records when deemed necessary. Results. A total of 112 patients were interviewed. SMA I n = 40, SMA II n = 48, SMA III n = 24. The median age in months at the time of reporting the first sign was SMA I: 1.5 (R: 0­7), SMA II: 9 (R: 2­20), SMA III: 18 (R: 8­180). In all subtypes, first signs were identified by parents from 75% to 85% of the times. The median time from first sign to first medical consultation was less than a month in all 3 types. The median time in months, from first sign to confirmed molecular diagnosis in SMA I was: 2 (R: 0­11), in SMA II: 10 (R: 3­46), in SMA III: 31.5 (R: 4­288). Conclusions. There is a significant delay in SMA diagnosis mainly related to the absence of clinical suspicion. The delay is shorter in SMA I and longer in SMA III. Other factors include deficiencies in the health care system.

Analyzing respiratory muscle weakness and thoracopulmonary restriction in subjects with duchenne muscular dystrophy / Análisis de la debilidad de los músculos respiratorios y de la restricción toracopulmonar en sujetos con distrofia muscular de Duchenne

Abstract Objective: To analyze the underlying components of reduced maximal static inspiratory (MIP) and expiratory (MEP) pressures in subjects with Duchenne muscular dystrophy. Methods: Forty-three subjects were assessed based on routine pulmonary function tests. MIP and MEP were measured the subjects performed maximal expirations and inspirations using a snorkel mouthpiece. Lung volumes were measured us ing the helium dilution technique. Results: The mean age was 13 years (range, 7-20 years). Median total lung capacity (TLC) and residual volume (RV) were 78.0 (49.0-94.0) and 27.0 (19.7-30.1) of the predicted values re spectively. The RV/TLC relationship was 35.3% (28.1-47.7). Thirty-five subjects had a TLC below the lower limit of normal, while 31 had an RV/TLC ratio above the upper limit of normal. The median (IQR) MIP and MEP values were -53.0 (-65.5 to -41.8) and 58.0 (41.5-74.8) cmH2O respectively. MIP and MEP in percent of the predicted values (predicted TLC and RV) were 42.6 (33.3-50.8) and 33.7 (23.9-44.5). MIP in percent of the RV reached for Group A (7-11 years old) was higher (p 0.025) while MEP in percent of the TLC reached for Group B (12-16 years) and C (17-20 years) were higher too (0.031). Conclusions: In subjects with Duchenne muscular dystrophy, the intrinsic weakness of respiratory muscles and mechanical disadvantage lead to inadequate maximal static pressure generation. Maximal static pressures should be interpreted cautiously as they overestimate respiratory muscle weakness when compared to predicted values obtained at TLC and RV. Our results provide additional data supporting absolute values use rather than predicted values.

Resumen Objetivo: Analizar los componentes subyacentes de las presiones inspiratorias (MIP) y espiratorias (MEP) es táticas máximas reducidas en sujetos con distrofia de Duchenne (DMD). Métodos: Se evaluaron 43 pacientes mediante pruebas de función pulmonar rutinarias. MIP y MEP fueron medidas a inspiración y espiración máximas. Los volúmenes pulmonares se midieron mediante dilución de helio. Resultados: Edad media 13 años (rango 7-20 años). La capacidad pulmonar total (TLC) y el volumen residual (RV) fueron 78.0% (49.0-94.0) y 27.0% (19.7- 30.1) de los valores predichos. El RV/TLC fue de 35.3% (28.1-47.7). Treinta y cinco sujetos tenían una TLC por debajo del límite inferior de normalidad, 31 tenían una RV/TLC por encima del límite superior de la normalidad. MIP y MEP fueron -53.0 (-65.5 a -41.8) y 58.0 (41.5-74.8) cmH2O, mientras que en % de los predichos (TLC y RV predichos) fueron 42.6 (33.3-50.8) y 33.7 (23.9-44.5). MIP en % del RV alcanzado (Grupo A 7-11 años) fue mayor (p 0.025), y MEP en % de la TLC alcanzada Grupo B (12-16 años) y C (17-20 años), también fue mayor (0.031). Conclusiones: En sujetos con DMD, debilidad intrínseca de los músculos respiratorios y desventaja mecánica conducen a generación de presión estática máxima inadecuada. Las mismas deben interpretarse con cautela, ya que sobrestiman la debilidad de los músculos respiratorios si se las compara con las tablas de valores predichos obtenidos a TLC y RV. Nuestros resultados proporcionan datos adicionales que respaldan la utilización de valores absolutos en lugar de los predichos.

Disfagia orofaríngea neurogénica: caracterización clínica y percepción de síntomas en Antioquia, Colombia entre los años 2019 a 2021

Introducción: la disfagia es un trastorno de la deglución, el cual es habitualmente desatendido por profesionales de la salud, en especial la disfagia orofaríngea neurogénica, que es capaz de producir varios síntomas, signos y complicaciones secundarias en los pacientes. Objetivo: realizar una caracterización clínica incluyendo percepción de síntomas de disfagia en pacientes con disfagia orofaríngea neurogénica de causas neurológicas y neuromusculares en Antioquia, Colombia entre los años 2019 y 2021. Metodología: estudio transversal realizado en 80 pacientes con disfagia orofaríngea neurogénica confirmada a través de la herramienta Eating Assessment Tool-10, evaluación clínica y/o resultados de video fluoroscopia de la deglución. Resultados: 71 pacientes presentaron causas neurológicas centrales. La enfermedad cerebrovascular y la enfermedad de Parkinson fueron las etiologías más frecuentes. Solo 18% de los pacientes con causas neurológicas y 33% con causas neuromusculares reportaron tolerancia a todas las consistencias de alimentos. Mediana de 16 puntos en cuanto a autopercepción de síntomas de disfagia mediante el instrumento Eating Assessment Tool-10, con puntuaciones más altas en pacientes con presencia de gastrostomía, antecedente de neumonía, odinofagia y alteración en la oclusión mandibular al examen físico. En los pacientes con causas neurológicas hubo mayor presencia de signos motores linguales y apraxias orofaciales. Conclusión: existen características clínicas como sensación de comida pegada, dificultad para tragar alimentos sólidos, tos y ahogo al tragar, que son útiles en el reconocimiento de casos de disfagia orofaríngea, y apoyan que esta genera más síntomas que signos al examen físico en pacientes con condiciones neurológicas y neuromusculares.

Introduction: dysphagia is a swallowing disorder that is usually neglected by health professionals, especially neurogenic oropharyngeal dysphagia, which can produce various symptoms, signs and secondary complications in patients. Objective: to perform a clinical characterization, including perception of dysphagia symptoms, in patients with neurogenic oropharyngeal dysphagia of neurological and neuromuscular causes in Antioquia, Colombia between 2019 and 2021. Methodology: cross-sectional study conducted in 80 patients with neurogenic oropharyngeal dysphagia confirmed through the Eating Assessment Tool-10, clinical assessment and/ or video fluoroscopy results of swallowing. Results: 71 patients presented central neurological causes. Cerebrovascular disease and Parkinson's disease were the most frequent etiologies. Only 18% of patients with neurological causes and 33% with neuromuscular causes reported tolerance to all food consistencies. Median of 16 points in terms of self-perception of dysphagia symptoms using the Eating Assessment Tool-10, with higher scores in patients with gastrostomy, a history of pneumonia, odynophagia, and abnormal mandibular occlusion on physical examination. In patients with neurological causes, there was a greater presence of lingual motor signs and orofacial apraxia. Conclusion: there are clinical characteristics such as a sensation of stuck food, difficulty swallowing solid foods, coughing, and choking when swallowing, which are useful in recognizing cases of oropharyngeal dysphagia, and support that this generates more symptoms than signs on physical examination in patients with neurological and neuromuscular conditions.

Combining extracorporeal shock wave treatment with proprioceptive neuromuscular facilitation can improve the lower limb motor function of stroke survivors with foot drop / 中华物理医学与康复杂志

Objective:To observe any effect of combining extracorporeal shock wave stimulation with proprioceptive neuromuscular facilitation (PNF) on the lower limb motor function of stroke survivors with foot drop.Methods:Thirty-six stroke survivors with foot drop were randomly divided into an extracorporeal shock wave group, a PNF group and a combination group, each of 12. The extracorporeal shock wave group and PNF group were given those therapies alone, while the combination group was provided with both. The extracorporeal shock wave therapy protocol was 2000 times on each muscle at an intensity of 2.5 bar and a frequency of 10Hz, twice a week for 4 weeks, while the PNF was provided at least 3 times per week for 4 weeks. Before and after the intervention, all of the participants were evaluated using the modified Ashworth scale (MAS), the 10-metre walk test (10 MWT) and the Fugl-Meyer lower limb motor function scale (FMA). Active range of the ankle joint and toe out angle were also observed.Results:After the intervention the lower limb muscle tone had decreased significantly in 8 of the PNF group members and in 9 of those in the extracorporeal shock wave group, but it has decreased significantly in all 12 members of the combination group. And the average magnitude of the improvement was also significantly greater in the combination group than in the other two groups. Moreover, significant differences were observed in the active range of the ankle joint after the treatment in the combination group, but not in the other two groups. After the intervention the average 10 MWT times and FMA scores of the PNF and combination groups had improved significantly, but not those of the extracorporeal shock wave group, but significant improvement in toe out angles was observed in all three groups, though the average improvement in the combination group was significantly greater than in the other 2 groups.Conclusion:Combining extracorporeal shock waves with PNF can effectively improve the lower limb motor function of stroke survivors with foot drop.

Electroacupuncture in the treatment of stroke survivors with oropharyngeal dysphagia / 中华物理医学与康复杂志

Objective:To observe any effect of electroacupuncture applied to the Jialianquan points in treating post-stroke oropharyngeal dysphagia.Methods:Forty-five stroke survivors with oropharyngeal dysphagia were randomly divided into an electroacupuncture group ( n=15), a neuromuscular electrical stimulation group ( n=15) and a control group ( n=15). All groups received 30 minutes of routine swallowing function training 5 times a week for 3 weeks. The electroacupuncture group was additionally provided with 30 minutes of electroacupuncture applied to the Jialianquan (CV23) points, and the neuromuscular electrical stimulation group instead received 30 minutes of neuromuscular electrical stimulation over the bilateral submental muscles. Videofluoroscopic swallowing studies were performed before and after the 3 weeks of treatment. Standardized swallowing assessment was conducted producing functional oral intake scale ratings, modified barium swallow impairment profiles and the penetration-aspiration scale scores. Surface electromyography was also employed to evaluate submental muscle functioning through measuring the swallowing time, average EMG (AEMG) value and peak amplitude. Results:After the treatment, significant improvement was observed in all of the evaluations with both groups, but the average scores were significantly better in the electroacupuncture and neuromuscular electrical stimulation groups compared with the control group and significantly better in the electroacupuncture group than in the neuromuscular electrical stimulation group.Conclusion:Electroacupuncture at the Jialianquan point can significantly improve the swallowing of stroke survivors with oropharyngeal dysphagia. It is more effective than neuromuscular electric stimulation.

Correlating nerve conduction studies with cross-sectional area measured using ultrasound in patients with neuromuscular disease / 中华神经科杂志

Objective:To determine whether there is a correlation between the cross-sectional area (CSA) and the parameters as measured on nerve conduction studies.Methods:Twenty-one patients with neuromuscular diseases in Beijing Tiantan Hospital from March 3, 2022 to May 4, 2023 underwent ultrasound measurement of the CSA of the median nerves and ulnar nerves at the wrist, elbow and the upper arm, followed by nerve conduction studies (NCS). A linear regression model was performed to compare NCS and CSA.Results:A total of 180 sets of motor nerve conduction velocity (MCV) and CSA at the different sites including 102 sets of median nerve and 78 sets of ulnar nerve, 220 sets of compound muscle action potential (CMAP) amplitude and CSA at the different sites including 104 sets of median nerve and 116 sets of ulnar nerve, 60 sets of sensory nerve conduction velocity (SCV) and CSA and sensory nerve action potential (SNAP) amplitude and CSA at the wrist including 32 sets of median nerve and 28 sets of ulnar nerve were recorded. The linear correlation between MCV and CSA was statistically significant both in median nerve ( r2=0.10,adjusted r2=0.09, P=0.001) and in ulnar nerve ( r2=0.18,adjusted r2=0.17, P<0.001).When CSA>10 mm 2, the linear correlation between CMAP amplitude and CSA was statistically significant both in median nerve ( r2=0.09,adjusted r2=0.08, P=0.024) and ulnar nerve ( r2=0.19,adjusted r2=0.17, P=0.004). The correlation between CMAP and CSA was not statistically significant when CSA≤10 mm 2. And the correlations between SCV and CSA and between SNAP and CSA were not statistically significant. Conclusions:CSA can better show the characteristics of changes in motor nerve conduction especially in motor conduction velocity. It is suggested that its application prospect in demyelinating peripheral neuropathy with motor nerve damage may be more extensive.

Comparison of analgesic efficacy and postoperative recovery between multi-point and single-point fascia iliaca compartment block in patients with hip fracture: a randomized controlled trial / 中华全科医师杂志

Objective:To compare the analgesic effect and postoperative recovery between multi-point and single-point ultrasound-guided fascia iliaca compartment block (FCIB) in elderly patients with hip fracture.Methods:From June 2019 to April 2020, 96 patients aged (71.1±5.4) years undergoing elective surgery for hip fracture in Renji Hospital were randomly assigned in multi-point block group or single-point block group, and the multi-point or single-point ultrasound-guided FCIB was performed for the two groups, respectively. The primary outcomes were the success rate for block of femoral nerve, lateral femoral cutaneous nerve and obturator nerve, and the 24 hours postoperative pain visual analog scale (VAS) score at rest and passive movement. The secondary outcomes were the onset time of sensory blocks of the above three nerves, complications of FICB, the satisfaction score of pain control during 48 hours after surgery and postoperative recovery of patients.Results:The success rate for block of lateral femoral cutaneous nerve in multi-point block group was 97.9% (47/48), which was significantly higher than that in single-point block group (83.3%(40/48)) ( P=0.031). The success rate for block of obturator nerve in multi-point block group was 95.8% (46/48), which was significantly higher than that in single-point block group which was 81.3% (39/48) ( P=0.025). The success rate of femoral nerve block in both groups was 97.9% (47/48) ( P=1.000). The 24 hours postoperative VAS scores at rest and passive movement in the multi-point block group were significantly lower than those in the single-point block group ( P<0.05). The onset time for block of lateral femoral cutaneous nerve and obturator nerve in multi-point block group was shorter than that in single-point block group ( P=0.025 and P<0.01). There was no significant difference in the onset time for block of femoral nerve between the two groups ( P=0.343). The satisfaction score of patients at 48 hours after surgery in multipoint block group was higher than that in single point block group ( P=0.024). The length of hospital stay in the multi-point block group was shorter than that in the single-point block group ( P=0.042), the proportion of intravenous analgesic drugs used after surgery was lower than that in the single-point block group ( P=0.041), and the complication rate within 30 days after surgery was also lower than that in the single point block group ( P=0.026). Conclusion:Compared with single-point block, ultrasound-guided multi-point block in iliac fascia space has advantages of increasing analgesic efficacy and promoting postoperative recovery in elderly patients with hip fracture.

Efficacy of ultrasound guided intercostal nerve pulse radiofrequency combined with nerve block in the treatment of post-herpetic neuralgia / 中国基层医药

Objective:To analyze the efficacy and safety of ultrasound-guided intercostal nerve pulse radiofrequency combined with nerve block in the treatment of post-herpetic neuralgia.Methods:The clinical data of 62 patients with post-herpetic neuralgia who received treatment in The Affiliated Hospital of Southwest Medical University from May 2017 to May 2021 were retrospectively analyzed. These patients underwent nerve block (NB group, n = 30) or pulsed radiofrequency plus nerve block (PRF + NB group, n = 32). Before and after treatment, The Numerical Rating Scale (NRS) score and Pittsburgh Sleep Quality Index (PSQI) score were compared between the two groups. After treatment, the occurrence of complications including pneumothorax, infection, and skin numbness was evaluated in each group. Results:Before treatment, there were no significant differences in NRS and PSQI scores between the two groups (all P > 0.05). Immediately, 1 week and 1 month after treatment, there was no significant difference in PSQI score between the two groups (all P > 0.05). At 3 and 6 months after treatment, the NRS score in the NB +PRF group was (1.71 ± 0.35) points and (1.68 ± 0.36) points, which were significantly lower than (2.72 ± 0.68) points and (3.26 ± 0.76) points in the NB group ( t = 54.40, 78.18, both P < 0.05). There were no treatment-related complications such as pneumothorax, infection, nerve numbness, or muscle weakness in the two groups. Conclusion:Ultrasound-guided pulsed radiofrequency combined with nerve block has a definite curative effect on post-herpetic neuralgia and is highly safe. The medium- and long-term efficacy of the combined therapy is superior to that of nerve block alone.

Surgical treatment and perioperative multidisciplinary management of neuromuscular scoliosis in children / 中国小儿急救医学

Scoliosis is a common deformity in neuromuscular disease, which usually has the characteristics of early onset age, severe degree of deformity, and rapid progression.Neuromuscular scoliosis often leads to serious damages to the quality of life, and results in the loss of walking, standing and sitting, and cardiopulmonary insufficiency.Surgical treatment can improve the quality of life for children with neuromuscular scoliosis, but surgical treatment is still challenging due to the complex surgery and many complicated diseases.The complications are much higher than those of idiopathic scoliosis.A multidisciplinary team is necessary in the surgical treatment of neuromuscular scoliosis to promptly and effectively reduce the complications.

Rehabilitation training for children with neuromuscular disease in PICU / 中国小儿急救医学

Neuromuscular diseases refer to a class of congenital or acquired diseases mainly involving the spinal cord anterior horn motor cells, peripheral nerves, neuromuscular junction and skeletal muscle.The common symptoms and signs include respiratory failure, skeletal malformations, joint contracture, gait abnormalities and movement disorders, and so on.Children in PICU are in more critical conditions.Early systematic, standardized and individualized rehabilitation training can promote the recovery of neuromuscular function, prevent or reduce complications, reduce the incidence and severity of late limb dysfunction, as well as improve the long-term quality of life of children.This review summarized the rehabilitation training of children with neuromuscular disease in PICU.

Complex treatment of neuromuscular diseases in PICU / 中国小儿急救医学

Neuromuscular diseases are a group of disorders that affect the anterior horn cells of the spinal cord, peripheral nerves, neuromuscular junction and skeletal muscle.A subset of children with neuromuscular disease have rapidly progressive conditions that threaten respiratory and medulla oblongata function.The main causes of neuromuscular disease in PICU include severe neurological impairment, infections, comorbidities, unexpected situations, and other conditions that can exacerbate the primary disease.In each case, timely identification and development of the specific therapies and supportive care measures could improve prognosis.