Polimiositis: evolución de 4 años y agudización en 2019, caso masculino en Popayán, Cauca / Polymyositis: evolution of 4-years and agudizacion in 2019, male case in Popayán, Cauca

Resumen La polimiositis es una miopatía autoinmune que causa cada año a nivel mundial 4 casos por cada millón de habitantes, es de diagnóstico clínico y necesita tratamiento rápido y agresivo porque puede llevar a desenlaces fatales. Esta patología es infrecuente en hombres con una proporción mujer/hombre de 2.5:1, por lo que el objetivo del artículo fue describir y comparar con la literatura el caso de un paciente masculino con polimiositis quien debutó con debilidad muscular y dolor poliarticular de 20 días de evolución, con valores de creatina quinasa de 24000 UI/L, asociado a pérdida de peso y respondiendo adecuadamente al tratamiento médico brindado en el momento. Después de 3 años asintomático, sufrió una agudización que fue manejada con medicamentos de primera línea, pero sin mejoría, por lo que requirió metilprednisolona oral a altas dosis e inmunomoduladores. En ningún momento presentó compromiso de órganos vitales, actualmente es sintomático y se encuentra en manejo médico. MÉD.UIS.2022;35(1):49-56.

Abstract Polymyositis is an autoimmune myopathy and each year it causes 4 cases per million in the worldwide population, it is clinically diagnosed and needs rapid and aggressive treatment because it can lead to fatal outcomes. This pathology is infrequent in men, with a proportion women/men 2.5:1, the objective of the article was to describe and compare with the literature the case of a male patient with polymyositis, who presented with muscle weakness and polyarticular pain of 20 days of evolution, with Creatine kinase values of 24,000 IU/L, associated with weight loss, and responding adequately to the medical treatment provided at the time. After 3 years asymptomatic, he suffered an acute phase that was managed with first-line medications but without improvement, for which he required oral methylprednisolone at high doses and inmunomodulators. At no time did he present vital organ involvement, he is currently symptomatic and is under medical management. MÉD.UIS.2022;35(1):49-56.

Inclusión body myositis: A differential diagnosis to consider in patients with myopathy refractory to immunosuppressants. Two case reports / Miopatía por cuerpos de inclusión: un diagnóstico diferencial que considerar en pacientes con miopatía refractaria a inmunosupresores. Reporte de 2 casos

ABSTRACT Inclusion body myositis is part of the group of inflammatory myopathies, representing 30% of this group of diseases, and is considered an orphan disease because its estimated prevalence is less than 5 per 10,000 inhabitants. It produces weakness and atrophy of the proximal and distal muscles. The pathophysiological mechanisms are mainly autoimmune, inflammatory, and degenerative. The cases are presented of two female patients who came to : the emergency department due to progressive loss of upper and lower limb strength, and progressive asymmetric muscle weakness.

RESUMEN La miositis por cuerpos de inclusión forma parte del grupo de las miopatías inflamatorias, de las que representa el 30%; es considerada una enfermedad huérfana, ya que se estima que su prevalencia es menor a 5 por cada 10.000 habitantes. Produce debilidad y atrofia de los músculos proximales y distales. Los mecanismos fisiopatológicos son principalmente autoinmunes, inflamatorios y degenerativos. Se presentan 2 casos de mujeres, quienes acudieron a urgencias por pérdida progresiva de la fuerza en miembros superiores e inferiores, con debilidad muscular asimétrica de curso progresivo.

Prevalencia de las alteraciones de la movilidad cervical en los estudiantes de una universidad

Resumen La movilidad articular se conoce como la capacidad de movimiento de una articulación en conjunto con los diferentes grupos musculares. En el dolor cervical o cervicalgia, esta se puede ver alterada por varios factores como: el dolor, la debilidad muscular y la limitación. Objetivos : Determinar las alteraciones de la movilidad cervical en los estudiantes de 1er a 3er ciclo de la Carrera de Fisioterapia de la Universidad Católica de Santiago de Guayaquil. Metodología : Estudio de enfoque cuantitativo y alcance descriptivo de diseño no experimental de tipo transversal en 106 estudiantes, considerando los criterios de inclusión se utilizó el IDC y el Test de Flexión Cráneo-Cervical. Resultados : De la muestra conformada por 100%(106) estudiantes; utilizando el Índice de Discapacidad Cervical se pudo evidenciar que el 55% de la población entra en el rango de sin discapacidad, en comparación con el porcentaje sobrante que equivale a un 38% y 7% entran en el rango de discapacidad leve y discapacidad moderada respectivamente, en relación a la evaluación de la movilidad articular mediante el Test de Flexión Cráneo-Cervical el 79% presentó alteración y un 21% el valor normal, en la evaluación con el instrumento Stabilizer Pressure Biofeedback el 75% presentó alteración de la fuerza muscular y el 25 % el valor normal. Conclusiones : Entre los estudiantes de 1ro y 3er ciclo de la carrera de Fisioterapia de la Universidad Católica de Santiago de Guayaquil se determinó que existe un alto porcentaje en relación a las alteraciones de la movilidad cervical.

Abstract Joint mobility is known as the ability to move a joint in conjunction with the different muscle groups. In cervical pain or neck pain, this can be altered by several factors such as: pain, muscle weakness and limitation. Objective : To determine the alterations of cervical mobility in students from 1st to 3rd cycle of the Physiotherapy Career of the Catholic University of Santiago de Guayaquil. Methodology : Study with a quantitative approach and descriptive scope of a non-experimental cross-sectional design in 106 students, considering the inclusion criteria, the IDC and the Cranio-Cervical Flexion Test were used. Results : From the sample made up of 100% (106) students; Using the Cervical Disability Index, it was possible to show that 55% of the population falls into the range of without disability, compared to the excess percentage that is equivalent to 38% and 7%, they fall into the range of mild disability and moderate disability respectively. In relation to the evaluation of joint mobility using the Cranio-Cervical Flexion Test, 79% presented alteration and 21% the normal value, in the evaluation with the Stabilizer Pressure Biofeedback instrument, 75% presented alteration of muscle strength and 25% the normal value. Conclusions : Among the students of the 1st and 3rd cycle of the Physiotherapy career at the Catholic University of Santiago de Guayaquil, it was determined that there is a high percentage in relation to cervical mobility alterations.

Resumo A mobilidade articular é conhecida como a capacidade de mover uma articulação em conjunto com os diferentes grupos musculares. Na cervicalgia ou cervicalgia, isso pode ser alterado por vários fatores, tais como: dor, fraqueza muscular e limitação. Objetivo : Determinar as alterações da mobilidade cervical em alunos do 1º ao 3º ciclo da Carreira de Fisioterapia da Universidade Católica de Santiago de Guayaquil. Metodologia : Estudo com abordagem quantitativa e escopo descritivo de delineamento transversal não experimental em 106 alunos, considerando os critérios de inclusão, foram utilizados o IDC e o Teste de Flexão Crânio-Cervical. Resultados : Da amostra composta por 100% (106) alunos; Utilizando o Índice de Incapacidade Cervical, foi possível evidenciar que 55% da população se enquadra na faixa de sem incapacidade, em comparação ao percentual excedente que equivale a 38% e 7%, se enquadra na faixa de incapacidade leve e moderada Em relação à avaliação da mobilidade articular através do Teste de Flexão Crânio-Cervical, 79% apresentaram alteração e 21% o valor normal; na avaliação com o instrumento Estabilizador de Pressão Biofeedback, 75% apresentaram alteração da força muscular e 25% o valor normal. Conclusão : Entre os alunos do 1º e 3º ciclo da carreira de Fisioterapia da Universidade Católica de Santiago de Guayaquil, constatou-se que há um alto percentual em relação às alterações da mobilidade cervical.

Myotonic dystrophy / 中华神经科杂志

Myotonic dystrophy is a group of inherited myopathy characterized by typical clinical symptoms of myotonia and muscular weakness.Due to the great difference in individual clinical manifestations and severity of symptoms,it is often difficult to make early clinical diagnosis by clinicians.Therefore,standardized diagnostic awareness and pathway should be attached great importance.To some extent,combining the patient's extra muscular symptoms can help clinicians to reduce the rate of missed diagnosis.With the development of muscle biopsy and the improvement of gene technology,there is no problem with the diagnosis,through electromyography,pathology and gene examination.At present,symptomatic treatment and symptom management are still the main treatments in the world.

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation? / Doença de Pompe de início tardio: qual é a prevalência na apresentação de fraqueza muscular de cinturas?

ABSTRACT Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG/AaGIA: 40.42; %INH: 87.22%). In this patient, genetic analysis confirmed two heterozygous mutations in the GAA gene (c.-32-13T>G/p.Arg854Ter). Our data confirm that clinicians should look for late-onset Pompe disease in patients whose clinical manifestation is an "unexplained" limb-girdle weakness even without vacuolar myopathy in muscle biopsy.

RESUMO A doença de Pompe é uma doença hereditária causada pela deficiência da enzima alfa-glicosidase ácida (GAA). Estudo observacional foi realizado, em um único centro, para determinar a prevalência da doença de Pompe de início tardio (LOPD) em uma população brasileira de alto risco, usando teste em gota seca (DBS) como ferramenta principal de triagem para detectar a deficiência da GAA. DBS foi coletado para avaliar a atividade da GAA em 24 pacientes com fraqueza muscular de cinturas "não explicada" sem miopatia vacuolar na biópsia muscular. As amostras com atividade enzimática reduzida foram também submetidas a análise de mutações no gene GAA. Dos 24 pacientes com DBS, baixa atividade da enzima GAA (NaG/AaGIA: 40.42; %INH: 87.22%) foi encontrada em um paciente (4.2%). Nessa paciente, a análise genética confirmou duas mutações em heterozigose composta no gene GAA (c.-32-13T > G/p.Arg854Ter). Nossos resultados confirmam que LOPD deve ser investigada quando a manifestação clínica é uma fraqueza muscular de cinturas "não explicada", mesmo na ausência de miopatia vacuolar na biópsia muscular.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease / Diretriz para o diagnóstico, tratamento e acompanhamento clínico de pacientes com doença de Pompe juvenil e do adulto

ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

RESUMO A doença de Pompe (DP) é uma doença grave, potencialmente letal, devida ao depósito de glicogênio na fibra muscular e ativação de vias autofágicas. Tratamento promissor para a DP é a reposição enzimática com a enzima recombinante humana alfa-glicosidase ácida (rhAGA -Myozyme®). A necessidade de organizar uma propedêutica diagnóstica, sistematizar o seguimento clínico e sedimentar as novas recomendações terapêuticas tornaram-se vitais à medida que o tratamento permite uma maior longevidade aos pacientes. Uma força-tarefa de clínicos experientes no manejo da DP foi constituída para elaborar um protocolo para o diagnóstico, acompanhamento clínico, tratamento, aconselhamento genético, entre outras considerações voltadas ao paciente adulto. O estudo foi realizado sob a coordenação da Rede Brasileira de Estudos da Doença de Pompe (REBREPOM). Diante da raridade da DP e escassez de trabalhos de alto impacto de evidência científica, os especialistas emitiram suas opiniões.

Expression of myostatin gene mRNA in the muscle tissue from 75 patients with muscular weakness / 中华神经科杂志

Objective To investigate myostatin gene mRNA expression in the muscle tissue from patients with muscle weakness suffering from different illness.Methods The clinical data of our patients were all from the Muscular Disease Center,Department of Neurology,People' s Liberation Army General Hospital.A total of 75 patients suffered from muscular weakness were included consecutively.Skeletal muscle biopsies were obtained with informed consent from all 75 patients.The diagnosis was confirmed by two senior doctors for muscular disease according to the clinical feature,the results of electromyography,serum creatine kinase activity and histopathological examination.Among of them,21 cases were diagnosed as polymyositis,15 cases progressive muscular dystrophy,5 cases neurogenic amyotrophy,4 cases chronic muscle fiber damage,4 cases mitochondrial myopathy,4 cases lipid storage myopathy,4 cases myotonic dystrophy,3 cases muscular dystrophy in adults,2 cases dermatomyositis,and 2 cases inclusion body myositis.There were 2 cases characterized by pure high activity of creatine kinase.And the other 9 cases were diagnosed as non-neuromuscular disease.The expression of myostatin gene mRNA in muscle tissue was evaluated by reverse transcription polymerase chain reaction method,with glyceraldehyde-3-phosphate dehydrogenase as internal reference.Results The expression of myostatin gene mRNA was detected in 63 patients,but not in other 12 cases,and the percentage of positive expression was 84％.The expression index was with great variation,from 0 to 3.52.In positive cohort,the index was correlated positively with the duration of disease (r =0.236,P =0.041).The activities of creatine kinase in positive expression cohort were higher than that of negative one,but nonsignificantly.Conclusion The expression of myostatin gene mRNA in muscle tissue may not correlate to the entity of atrophic muscular disease because of its great variation.

Strength of the respiratory and lower limb muscles and functional capacity in chronic stroke survivors with different physical activity levels

BACKGROUND: The assessment of strength and its relationships with functional capacity could contribute to more specific and effective disability management of stroke survivors. OBJECTIVE: To compare and investigate associations between measures of strength and functional capacity of 98 chronic stroke survivors, stratified into three groups, according to their physical activity levels. METHOD: The physical activity levels were classified as impaired, moderately active, and active, based on their Human Activity Profile (HAP) scores. Strength was assessed by the maximal inspiratory (MIP) and expiratory (MEP) pressures and by the residual deficits (RDs) of work of the lower limb and trunk muscles, whereas functional capacity was evaluated by the distance covered during the six-minute walking test (6MWT). RESULTS: One-way analyses of variance revealed significant differences between the groups, except between the active and moderately active groups regarding the RDS of the hip and knee flexors/extensors and ankle dorsiflexors (2.91<F<8.62; 0.001<p<0.01). Differences between the groups were found for the 6MWT (F=10.75; p<0.001), but no differences were found for the MIP and MEP measures (0.92<F<2.13; 0.13<p<0.40). Significant, negative, and fair correlations were observed between the RDS of the hip and knee muscles and the 6MWT (0.30<r<-0.43; p<0.01) and the HAP (-0.28<r<-0.41; p<0.01). Moderate to good correlations were found between the 6MWT and the HAP (r=0.50; p<0.0001). There were no significant correlations between measures of respiratory strength and any of the investigated variables (-0.11<r<0.12; 0.26<p<0.56). CONCLUSIONS: Lower strength deficits and higher functional capacity were associated with higher physical activity levels. However, the moderately active and active groups demonstrated similar strength deficits. .

Efeitos do fortalecimento muscular na marcha de adolescentes portadores de paralisia cerebral espástica diplégica / Effects of muscle strengthening in gait of adolescents with diplegic spastic cerebral palsy

A fraqueza muscular constitui um dos principais problemas da paralisia cerebral. Pesquisas demonstram que o treino de força muscular tem sido eficiente para melhoria da performance motora nos indivíduos acometidos por esta patologia. O objetivo do estudo foi investigar os efeitos do fortalecimento muscular, na marcha de adolescentes portadores de paralisia cerebral espástica diplégica. Foram selecionados dois indivíduos com idades de 14 e 18 anos que atenderam os critérios de inclusão do estudo. O tratamento foi realizado duas vezes por semana, durante dez semanas, constituindo-se de sete exercícios para o fortalecimento dos membros inferiores. Os sujeitos foram avaliados na primeira, na décima e na vigésima sessão por meio da dinamometria nos músculos quadríceps e flexores dorsais do tornozelo e do teste de caminhada de seis minutos adaptado. A eficácia do treinamento foi avaliada utilizando-se o teste ANOVA acompanhado do teste Tukey e a estatística descritiva. O índice de significância estabelecido foi de ?= 0,05. Como resultado, verificou-se que o fortalecimento muscular mostrou existir relação entre força muscular e capacidade funcional de marcha. Os achados permitem recomendar esta abordagem de reabilitação em adolescentes com diplegia espástica.

Muscle weakness is one of the main problems of cerebral palsy. Research shows that muscle strength training has been effective in improving motor performance in individuals affected by this disease. The study aimed to investigate the effects of muscle strengthening on the gait of adolescents with diplegic spastic cerebral palsy. Two individuals aged 14 and 18 years who met the inclusion criteria of the study were selected. The treatment was performed twice a week for ten weeks, consisting of seven exercises to strengthen the lower limbs. The subjects were evaluated in the first, tenth and twentieth session by dynamometry in quadriceps and dorsal flexors of the ankle muscles and adapted six-minute walk test. The training effectiveness was evaluated using the ANOVA followed by Tukey?s test and descriptive statistics. The significance level was set at ? = 0.05. As a result, it was found that the muscle strengthening showed a relationship between muscle strength and functional capacity of gait. The findings can recommend this approach to rehabilitation in adolescents with spastic diplegia.

Lambert-Eaton myasthenic syndrome as a cause of persistent neuromuscular weakness after a mediastinoscopic biopsy: A case report / 대한마취과학회지

There are many causes of prolonged postoperative muscle weakness, including drugs, residual anesthetics, cerebrovascular events, electrolyte imbalance, hypothermia, and neuromuscular disease. Neuromuscular diseases are relatively rare, with the most common being myasthenia gravis and Lambert-Eaton myasthenic syndrome (LEMS). We report an unusual case in which a patient who was given a muscle relaxant during mediastinoscopy developed postoperative muscle weakness that was ultimately diagnosed as secondary to LEMS.

Inclusion Body Myositis: A case report

In 1971 inclusion body myositis was reported by Yunis and Samaha. This disease is similar with chronic multiple myositis clinically. Pathologically, inclusion body myositis is characterized by intracytoplasmic vacuole with degenerating fibers and accompanied with inclusion body in internal nucleus and cytoplasm. Since then 240 cases of inclusion body myositis have been reported in the world including 3 cases in Korea. A 27 years-old lady had inclusion body myositis, which show slowly progressive muscular weakness. We confirmed this with clinical symptom, muscle biopsy, and electrophysiologic study. We report the typical manifestation of inclusion body myositis in a 27 years-old lady with the brief review of literature.