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ABSTRACT Objectives To determine the incidence and intensity of pain and the areas most affected by injuries with musculoskeletal pain, and the incidence and severity of "injuries defined by time of leave" in games and training of soccer referees in a triennium. Methods An interview was conducted with 257 referees using a web application. With this tool, a monthly evaluation form was sent to the referees with questions that measured the incidence, location, and pain intensity of injuries with complaints of pain and time of leave, severity in games and training in the years 2012, 2013, and 2014. The numerical pain scale was used to classify the pain intensity of the lesions with pain complaint. Results There was no difference between the years studied in relation to injuries with pain complaints, both in games and in training. Mean values were 37.8/1,000 hours in games and 39.9/1,000 hours in training, with a mean incidence of " injuries defined by time of leave" of 3.7/1,000 hours in games. The difference was significantly higher in 2013 compared to 2012 and 2014, and in training, the average incidence was 3.5/1,000 hours, with a significantly higher difference in 2012 compared to 2013 and 2014. Conclusion Lesions with pain complaints did not present a significant difference in games compared to training; in the lesions by time of leave, the incidence in games was higher than in training, and the most frequent type of injury was low-degree muscle pain, predominantly in the thigh and triceps surae. Level of Evidence II; Prognostic Study - Investigating the Effect of Patient Characteristics on Disease Outcome.
RESUMO Objetivos Determinar a incidência e a intensidade álgica e os locais mais acometidos por lesões com dor musculoesquelética e incidência e gravidade das "lesões definidas por tempo de afastamento" em jogos e treinos de árbitros de futebol, em um triênio. Métodos Foram entrevistados 257 árbitros utilizando-se um aplicativo da web. Com essa ferramenta, foi enviada aos árbitros uma ficha de avaliação mensal com questões que mediam incidência, localização e intensidade álgica das lesões com queixas de dor e por tempo de afastamento, gravidade em jogos e treinos nos anos de 2012, 2013 e 2014. Para classificar a intensidade álgica das lesões com queixas utilizou-se a escala numérica de dor. Resultados Não houve diferença entre os anos estudados com relação às lesões com queixas de dor, tanto em jogos quanto em treinos. Os valores médios foram de 37,8/1.000 horas em jogos e 39,9/1.000 horas em treinos e a incidência média de "lesões definidas por tempo de afastamento" de 3,7/1.000 horas em jogos. A diferença foi significantemente maior em 2013 com relação a 2012 e 2014 e, em treinos, a incidência média foi de 3,5/1.000 horas com diferença significantemente superior em 2012 com relação a 2013 e 2014. Conclusão As lesões com queixas de dor não apresentaram diferença significante em jogos comparados com treinos; nas lesões por tempo de afastamento, a incidência em jogos foi maior do que em treinos, e o tipo de lesão mais frequente foi a muscular de grau leve, predominando na coxa e no tríceps sural. Nível de evidência II, Estudos diagnósticos - Investigação de um exame para diagnóstico.
RESUMEN Objetivos Determinar la incidencia y la intensidad del dolor y los lugares más afectados por lesiones con dolor musculoesquelético e incidencia y gravedad de las "lesiones definidas por tiempo de licencia" en juegos y entrenamientos de árbitros de fútbol en un trienio. Métodos Fueron entrevistados 257 árbitros utilizando una aplicación de la web. Con esta herramienta, se envió a los árbitros una ficha de evaluación mensual con cuestiones que medían incidencia, localización, intensidad de las lesiones con quejas de dolor y por tiempo de licencia, gravedad en juegos y entrenamientos en los años 2012, 2013 y 2014. Para clasificar la intensidad del dolor de las lesiones con quejas se utilizó la escala numérica de dolor. Resultados No hubo diferencia entre los años estudiados en relación a las lesiones con quejas de dolor, tanto en juegos como en entrenamientos. Los valores promedio fueron de 37,8/1.000 horas en juegos y 39,9/1.000 horas en entrenamientos, siendo la incidencia media de "lesiones definidas por tiempo de licencia" de 3,7/1.000 horas en juegos. La diferencia fue significantemente mayor en 2013 con respecto a 2012 y 2014 y en los entrenamientos, la incidencia media fue de 3,5/1.000 horas con una diferencia significantemente superior en 2012 con respecto a 2013 y 2014. Conclusión Las lesiones con quejas de dolor no presentaron diferencia significativa en juegos comparados a los entrenamientos; en las lesiones por tiempo de licencia, la incidencia en juegos fue mayor que en entrenamientos, y el tipo de lesión más frecuente fue la muscular de grado leve, predominio en el muslo y tríceps sural. Nivel de evidencia II, Estudios de diagnósticos - Investigación de un examen para diagnóstico.
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BACKGROUND AND OBJECTIVES: Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. CASE REPORT: Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L-1 (normal 174IU.L-1). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. CONCLUSION: On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia.
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PURPOSE: HyperCKemia is a persistent rise in serum creatine kinase (CK) levels of at least 1.5 times the normal value, as evidenced by a minimum of two measurements at 30-day intervals. One of the neuromuscular diseases associated with hyperCKemia is malignant hyperthermia (MH). This study investigated the susceptibility to MH in patients with hyperCKemia via in vitro contracture testing (IVCT) and a search of mutations in the RYR1 gene. METHODS: Patients in an MH centre were followed from 1997-2012, and their epidemiologic, clinical, and laboratory data were analyzed, including IVCT, muscle histochemical analysis, and next-generation sequencing molecular analysis. RESULTS: There were nine patients (eight male) in our study with a mean (SD) age of 33 (12) yr. Four patients were Caucasian and five were African Brazilian. Most complained about myalgia or cramps, but all had a normal neurological examination. They persistently presented with hyperCKemia from three months to ten years, with a mean (SD) CK value of 788 (507) IU·L-1 ranging from 210-1,667 IU·L-1. These values corresponded to a 1.5- to nine-fold increase in the normal value (mean increase, 3.7-fold). Six patients were MH susceptible (MHS) after a positive IVCT. Histopathological muscular analysis disclosed unspecified changes in four of the MHS patients. Mitochondrial proliferation was observed in the other two MHS patients and in three MH negative patients. No pathogenic mutations were identified in the RYR1 gene in the five patients evaluated. CONCLUSION: When investigating patients with idiopathic hyperCKemia, susceptibility to MH should be taken into account, and guidance should be offered to prevent anesthetic complications in the family.
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Creatina Quinasa/sangre , Hipertermia Maligna/epidemiología , Canal Liberador de Calcio Receptor de Rianodina/genética , Adolescente , Adulto , Susceptibilidad a Enfermedades , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Hipertermia Maligna/etiología , Hipertermia Maligna/genética , Persona de Mediana Edad , Mutación , Factores de Riesgo , Factores de Tiempo , Adulto JovenRESUMEN
METHODS: The Baecke questionnaire for the evaluation of habitual physical activity (HPA), assessment of quality of life (WHOQOL-Bref), and the Fatigue Severity Scale were administered to patients with PPS, poliomyelitis sequelae (PS) and to a control group (CG). Participated in the study 116 individuals (PPS=52,PS= 28,CG=36). RESULTS: Patients with PPS tended to increase their HPA from 10 to 20 years of age, compared with those in the PS group and the CG. In the period from 21 to 30 years of age, there was significant increase in the PPS group's occupational physical activity compared to the PS group, and the occupational physical activity (21-30 years of age) correlated with the onset of symptoms of PPS. CONCLUSION: Patients with PPS had a higher energy expenditure during life, especially in occupational physical activity at ages 21-30 years, suggesting this decade is critical for the development of PPS.
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Metabolismo Energético/fisiología , Actividad Motora/fisiología , Síndrome Pospoliomielitis/fisiopatología , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Fatiga/etiología , Fatiga/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Síndrome Pospoliomielitis/complicaciones , Estudios Retrospectivos , Encuestas y Cuestionarios , Adulto JovenRESUMEN
ABSTRACT The objective of this study was to identify energy expenditure, retrospectively, in individuals with post-poliomyelitis syndrome (PPS) in the Brazilian population. Methods The Baecke questionnaire for the evaluation of habitual physical activity (HPA), assessment of quality of life (WHOQOL-Bref), and the Fatigue Severity Scale were administered to patients with PPS, poliomyelitis sequelae (PS) and to a control group (CG). Participated in the study 116 individuals (PPS=52,PS= 28,CG=36). Results Patients with PPS tended to increase their HPA from 10 to 20 years of age, compared with those in the PS group and the CG. In the period from 21 to 30 years of age, there was significant increase in the PPS group’s occupational physical activity compared to the PS group, and the occupational physical activity (21-30 years of age) correlated with the onset of symptoms of PPS. Conclusion Patients with PPS had a higher energy expenditure during life, especially in occupational physical activity at ages 21-30 years, suggesting this decade is critical for the development of PPS.
RESUMO O objetivo deste estudo foi identificar o gasto energético, retrospectivamente, em indivíduos com síndrome pós-poliomielite (SPP) na população brasileira. Métodos Foi utilizado o questionário Baecke para avaliação da atividade física habitual (AFH) nos pacientes com SPP, sequela de poliomielite (SP) e grupo controle (GC). Participaram do estudo 116 indivíduos (SPP = 52, SP = 28, GC = 36). Resultados Pacientes com SPP tendem a aumentar a AFH dos 10 aos 20 anos, comparados com os grupos SP e GC. No período dos 21 aos 30 anos, houve aumento significativo da atividade física ocupacional do grupo SPP em relação ao grupo SP e a atividade física ocupacional (21-30 anos) correlacionou-se com o aparecimento dos sintomas da SPP. Conclusão Pacientes com SPP apresentam maior gasto de energia durante a vida, especialmente na atividade física ocupacional nas idades 21-30 anos, sugerindo que esta década é crítica para o desenvolvimento da SPP.
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Humanos , Masculino , Femenino , Niño , Adolescente , Adulto , Persona de Mediana Edad , Adulto Joven , Síndrome Pospoliomielitis/fisiopatología , Metabolismo Energético/fisiología , Actividad Motora/fisiología , Estudios de Casos y Controles , Encuestas y Cuestionarios , Estudios Retrospectivos , Síndrome Pospoliomielitis/complicaciones , Fatiga/etiología , Fatiga/fisiopatologíaRESUMEN
METHOD: A search for papers was made in the databases Bireme, Scielo and Pubmed with the following keywords: post polio syndrome, cardiorespiratory and rehabilitation in English, French and Spanish languages. Although we targeted only seek current studies on the topic in question, only the relevant (double-blind, randomized-controlled and consensus articles) were considered. RESULTS AND DISCUSSION: Certain features of PPS such as generalized fatigue, generalized and specific muscle weakness, joint and/or muscle pain may result in physical inactivity deconditioning obesity and dyslipidemia. Respiratory difficulties are common and may result in hypoxemia. CONCLUSION: Only when evaluated and treated promptly, somE patients can obtain the full benefits of the use of respiratory muscles aids as far as quality of life is concerned.
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Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/terapia , Síndrome Pospoliomielitis/complicaciones , Síndrome Pospoliomielitis/rehabilitación , Enfermedades Respiratorias/etiología , Enfermedades Respiratorias/terapia , Enfermedades Cardiovasculares/fisiopatología , Prueba de Esfuerzo , Humanos , Debilidad Muscular/fisiopatología , Síndrome Pospoliomielitis/fisiopatología , Enfermedades Respiratorias/fisiopatología , Factores de Riesgo , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/fisiopatologíaRESUMEN
ABSTRACT Post-polio syndrome (PPS) is a condition that affects polio survivors years after recovery from an initial acute attack of the poliomyelitis virus. Most often, polio survivors experience a gradual new weakening in muscles that were previously affected by the polio infection. The actual incidence of cardiovascular diseases (CVDs) in individuals suffering from PPS is not known. However, there is a reason to suspect that individuals with PPS might be at increased risk. Method A search for papers was made in the databases Bireme, Scielo and Pubmed with the following keywords: post polio syndrome, cardiorespiratory and rehabilitation in English, French and Spanish languages. Although we targeted only seek current studies on the topic in question, only the relevant (double-blind, randomized-controlled and consensus articles) were considered. Results and Discussion Certain features of PPS such as generalized fatigue, generalized and specific muscle weakness, joint and/or muscle pain may result in physical inactivity deconditioning obesity and dyslipidemia. Respiratory difficulties are common and may result in hypoxemia. Conclusion Only when evaluated and treated promptly, somE patients can obtain the full benefits of the use of respiratory muscles aids as far as quality of life is concerned.
RESUMO Síndrome pós-polio (SPP) é uma condição que afeta sobreviventes da poliomielite aguda (PAA), anos após a recuperação de um ataque agudo inicial do vírus. Na maioria das vezes, os sobreviventes da polio começam a apresentar nova paresia gradual nos músculos que foram previamente afetados pela infecção. A incidência real de doenças cardiovasculares (DCV) em indivíduos que sofrem de SPP não é conhecida. Entretanto, há indícios para suspeitar de que sujeitos com SPP podem estar em maior risco. Método Realizou-se uma busca de artigos nas bases de dados: Bireme, Scielo e Pubmed, utilizando as seguintes palavras-chave: síndrome pós-poliomielite, função cardiorrespiratória e reabilitação, nos idiomas Inglês, Francês e Espanhol. Embora tenhamos selecionado um número expressivo de artigos, somente foram considerados os duplo-cegos, randomizados-controlados, além de consensos. Resultados e Discussão Certas características da SPP, tais como fadiga muscular, paresia, dor muscular e/ou articulares podem resultar em descondicionamento por inatividade física, além de obesidade e dislipidemia. Dificuldades respiratórias são comuns e podem resultar em hipoxemia. Conclusão Somente quando avaliados e tratados em tempo hábil, alguns pacientes são capazes de obter os benefícios do uso dos músculos respiratórios auxiliares em termos de qualidade de vida.
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Humanos , Enfermedades Respiratorias/etiología , Enfermedades Respiratorias/terapia , Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/terapia , Síndrome Pospoliomielitis/complicaciones , Síndrome Pospoliomielitis/rehabilitación , Enfermedades Respiratorias/fisiopatología , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/fisiopatología , Enfermedades Cardiovasculares/fisiopatología , Factores de Riesgo , Síndrome Pospoliomielitis/fisiopatología , Debilidad Muscular/fisiopatología , Prueba de EsfuerzoRESUMEN
Nitric oxide (NO) is an important signaling messenger involved in different mitochondrial processes but only few studies explored the participation of NO in mitochondrial abnormalities found in patients with genetic mitochondrial deficiencies. In this study we verified whether NO synthase (NOS) activity was altered in different types of mitochondrial abnormalities and whether changes in mitochondrial function and NOS activity could be associated with the induction of apoptosis. We performed a quantitative and integrated analysis of NOS activity in individual muscle fibres of patients with mitochondrial diseases, considering mitochondrial function (cytochrome-c-oxidase activity), mitochondrial content, mitochondrial DNA mutation and presence of apoptotic nuclei. Our results indicated that sarcolemmal NOS activity was increased in muscle fibres with mitochondrial proliferation, supporting the relevance of neuronal NOS in the mitochondrial biogenesis process. Sarcoplasmic NOS activity was reduced in cytochrome-c-oxidase deficient fibres, probably as a consequence of the involvement of NO in the regulation of the respiratory chain. Alterations in NOS activity or mitochondrial abnormalities were not predisposing factors to apoptotic nuclei. Taken together, our results show that NO can be considered a potential molecular target for strategies to increase mitochondrial content and indicate that this approach may not be associated with increased apoptotic events.
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Apoptosis , Mitocondrias Musculares/metabolismo , Enfermedades Mitocondriales/metabolismo , Dinámicas Mitocondriales , Fibras Musculares Esqueléticas/metabolismo , Óxido Nítrico/biosíntesis , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mitocondrias Musculares/genética , Mitocondrias Musculares/patología , Enfermedades Mitocondriales/genética , Enfermedades Mitocondriales/patología , Proteínas Mitocondriales/genética , Proteínas Mitocondriales/metabolismo , Fibras Musculares Esqueléticas/patología , Proteínas Musculares/genética , Proteínas Musculares/metabolismo , Óxido Nítrico/genética , Óxido Nítrico Sintasa/genética , Óxido Nítrico Sintasa/metabolismoRESUMEN
BACKGROUND: Core myopathies are a clinically and genetically heterogeneous group of congenital myopathies with the common defined histopathological feature of focally reduced oxidative activity on muscle biopsy. It has a low incidence, however, recent articles show broad clinical spectrum, suggesting that the real incidence should be considerably larger than previously described. Due to the important association between scoliosis and paravertebral muscle imbalance, numerous authors study, by biopsy of the spinal rotator muscles, potential changes that may elucidate the etiology of adolescent idiopathic scoliosis. CASE PRESENTATION: Two patients have been followed at Spine Group of Department of Orthopedics at Federal University of São Paulo, with an initial diagnosis of idiopathic scoliosis. Both patients had clinical and radiological findings compatible with it. The patients authorized, through the Term of Consent, intraoperative biopsy of muscle multifidus from the apex of the thoracic curve on concave and convex sides. After muscle biopsy was performed a histopathological analysis. As regard to the histopathological features: in both patients were identified, the presence of core structures in extensive areas with reduced oxidative activity running along the muscle fiber. CONCLUSIONS: All patients with 'idiopathic' scoliosis deserve a careful neurological evaluation, even if they have minimal muscle symptoms in the extremities. The frequent occurrence of scoliosis in patients with CORE Myopathies, supports the thesis that the change in the paravertebral muscle fiber must be the underlying pathogenic factor in scoliosis and may help us understand the onset and progression of curves in patients previously diagnosed with idiopathic scoliosis.
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Debilidad Muscular , Enfermedades Musculares/diagnóstico , Escoliosis/diagnóstico , Adolescente , Diagnóstico Diferencial , Femenino , Humanos , Enfermedades Musculares/complicaciones , Escoliosis/complicacionesRESUMEN
Morphological, biochemical, and histopathological alterations in the paraspinal skeletal muscle of patients with adolescent idiopathic scoliosis (AIS) have been extensively reported. We evaluated rotator muscle fibers from the apex vertebra of AIS patients through histological and immunohistochemical analysis. A population of 21 female AIS patients who underwent corrective surgery between 2010 and 2013 had biopsies taken from the paraspinal muscle in the convex and concave sides of the thoracic curve apical vertebra. Serial sections were stained following routine protocols for hematoxylin and eosin (HE), Sudan red, Gomori trichrome, NADH, ATPase, and cytochrome oxidase. We assessed muscular atrophy and hypertrophy, fatty proliferation, endomysial and perimysial fibrosis, the presence of hyaline fibers, mitochondrial proliferation, muscular necrosis, nuclear centralization, and inflammation. Two independent professionals evaluated the slices. The thoracic curves had an average Cobb angle of 68 degree. Comparative analysis of the concave and convex sides was performed with McNemar test at a significance level of 5%. Results showed significant differences in both endomysial and perimysial fibrosis and fatty involution between the two sides of the apex vertebra. Paraspinal muscles in the concave side of the scoliosis apex had significantly more fibrosis and fatty involution. However, both sides showed signs of myopathy, muscular atrophy due to necrosis, presence of hyaline fibers, and mitochondrial proliferation.
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Músculo Esquelético/patología , Escoliosis/patología , Adolescente , Biopsia , Estudios Transversales , Femenino , HumanosRESUMEN
OBJECTIVE: To evaluate in a rabbit experimental model a mechanism of continence of catheterizable urinary conduits (CUC), focusing on the behavior of intersected rectal muscle fibers in relation to the channel by histological and histochemical analysis, and secondarily to register conduit continence rates from clinical and urodynamic data. MATERIALS AND METHODS: 12 rabbits were submitted to construction of a CUC from two abdominal skin flaps and divided into two groups: 8 with a urinary neo-sphincter created according to Yachia and 4 controls. We registered clinical outcome, urodynamic studies and microscopic analysis of CUC on the surface of the conduit, which was in direct contact with the mechanism of continence. We took muscle samples from the mechanisms of continence and performed histochemical evaluation by enzymatic reactions. RESULTS: Histological evaluation of the CUC showed no difference between groups. Histology and immunohistochemistry of the muscle fibers showed that areas of necrosis, cell atrophy and motor neuron injury from the first eight weeks recovered by the end of 16th week. Conduit complications occurred in 4 animals (33%). The average detrusor leakage point pressure through the conduit was 90 cm H2O versus 39 cm H2O through the urethra. CONCLUSION: The mechanism of continence did not promote ischemic stress on the conduit, was able to promote high pressure resistance and showed good recovery of intersected muscle fibers, after an initial slight atrophy, suggesting good durability of the neo-sphincter.
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Recto del Abdomen/trasplante , Colgajos Quirúrgicos , Uretra/cirugía , Cateterismo Urinario/métodos , Reservorios Urinarios Continentes , Animales , Atrofia , Isquemia/prevención & control , Masculino , Modelos Animales , Fibras Musculares Esqueléticas/patología , Fibras Musculares Esqueléticas/fisiología , Complicaciones Posoperatorias/prevención & control , Presión , Conejos , Estomas Quirúrgicos , Uretra/fisiología , UrodinámicaRESUMEN
BACKGROUND AND OBJECTIVES: Malignant hyperthermia (MH) is a pharmacogenetic disease that causes abnormal hypermetabolic reaction to halogenated anesthetics and/or depolarizing muscle relaxants. In Brazil, there is a hotline telephone service for MH since 1991, available 24 hours a day in São Paulo. This article analyzes the activity of the Brazilian hotline service for MH in 2009. METHODS: Prospective analysis of all phone calls made to the Brazilian hotline service for MH from January to December 2009. RESULTS: Twenty-two phone calls were received: 21 from the South/Southeast region of Brazil and one from the North region. Fifteen calls were requests for general information about MH. Seven were about suspected MH acute episodes, two of which were not considered as MH. In five episodes compatible with MH, all patients received halogenated volatile anesthetics (2, isoflurane; 3, sevoflurane) and one also used succinylcholine; there were four men and one woman, with a mean age of 18 years (2-27). The problems described in the five MH episodes were tachycardia (5), increased expired carbon dioxide (4), hyperthermia (3), acidemia (1), rhabdomyolysis (1), and myoglobinuria (1). One patient received dantrolene. All five patients with MH episodes were follow-up in the intensive care unit and recovered without sequelae. Susceptibility to MH was later confirmed in two patients by in vitro muscle contracture test. CONCLUSIONS: The number of calls per year in the Brazilian hotline service for MH is still low. The characteristics of MH episode were similar to those reported in other countries. The knowledge of MH in Brazil needs to be increased.
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Líneas Directas/estadística & datos numéricos , Hipertermia Maligna/epidemiología , Adolescente , Adulto , Brasil/epidemiología , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Prospectivos , Adulto JovenRESUMEN
JUSTIFICATIVA E OBJETIVOS: Hipertermia maligna (HM) é doença farmacogenética, com reação hipermetabólica anormal a anestésicos halogenados e/ou relaxantes musculares despolarizantes. Desde 1991 há um serviço hotline de atendimento telefônico para HM no Brasil, disponível 24 horas por dia, em São Paulo. Este artigo analisa a atividade do serviço brasileiro de hotline para HM em 2009. MÉTODOS: Análise prospectiva de todas chamadas telefônicas paria maligna (HM) é doença farmacogenética, com reação hipermetabólica anormal a anestésicos halogenados e/ou relaxantes musculares despolarizantes. Desde 1991 há um serviço hotline de atendimento telefônico para HM no Brasil, disponível 24 horas por dia, em São Paulo. Este art go analisa a at vidade do serviço brasileiro de hotline para HM em 2009a o serviço brasileiro de hotline para HM, de janeiro a dezembro de 2009. RESULTADOS: Foram recebidas 22 ligações; 21 provenientes do Sul-Sudeste do Brasil e uma do Norte. Quinze eram pedidos de informações gerais sobre HM. Sete foram suspeitas de crises agudas de HM, das quais duas não foram consideradas como HM. Nas cinco crises compatíveis com HM, todos os pacientes receberam anestésicos inalatórios halogenados (2 isoflurano, 3 sevoflurano) e um usou também succinilcolina; havia quatro homens e uma mulher, com média de idade de 18 anos (2-27). Problemas descritos nas cinco crises de HM: taquicardia (cinco), aumento do gás carbônico expirado (quatro), hipertermia (três), acidemia (um), rabdomiólise (um) e mioglobinúria (um). Um paciente recebeu dantrolene. Todos os cinco pacientes com crises de HM foram seguidos em unidade de terapia intensiva e recuperaram-se sem sequelas. A suscetibilidade à HM foi posteriormente confirmada em dois pacientes por meio do teste de contratura muscular in vitro. CONCLUSÕES: O número de chamadas por ano no serviço brasileiro de hotline para HM ainda é reduzido. As características das crises foram similares às descritas em outros países. É preciso aumentar o conhecimento sobre HM no Brasil.
BACKGROUND AND OBJECTIVES: Malignant hyperthermia (MH) is a pharmacogenetic disease that causes abnormal hypermetabolic reaction to halogenated anesthetics and/or depolarizing muscle relaxants. In Brazil, there is a hotline telephone service for MH since 1991, available 24 hours a day in São Paulo. This article analyzes the activity of the Brazilian hotline service for MH in 2009. METHODS: Prospective analysis of all phone calls made to the Brazilian hotline service for MH from January to December 2009. RESULTS: Twenty-two phone calls were received: 21 from the South/Southeast region of Brazil and one from the North region. Fifteen calls were requests for general information about MH. Seven were about suspected MH acute episodes, two of which were not considered as MH. In five episodes compatible with MH, all patients received halogenated volatile anesthetics (2, isoflurane; 3, sevoflurane) and one also used succinylcholine; there were four men and one woman, with a mean age of 18 years (2-27). The problems described in the five MH episodes were tachycardia (5), increased expired carbon dioxide (4), hyperthermia (3), acidemia (1), rhabdomyolysis (1), and myoglobinuria (1). One patient received dantrolene. All five patients with MH episodes were follow-up in the intensive care unit and recovered without sequelae. Susceptibility to MH was later confirmed in two patients by in vitro muscle contracture test. CONCLUSIONS: The number of calls per year in the Brazilian hotline service for MH is still low. The characteristics of MH episode were similar to those reported in other countries. The knowledge of MH in Brazil needs to be increased.
JUSTIFICATIVA Y OBJETIVOS: La Hipertermia Maligna (HM) es una enfermedad farmacogenética, con una reacción hipermetabólica anormal a los anestésicos halogenados y/o relajantes musculares despolarizantes. Desde 1991 existe un servicio hotline de atención telefónica para la HM en Brasil a disposición las 24 horas del día en São Paulo. Este artículo analiza la actividad del servicio brasileño de hotline para la HM en el 2009. MÉTODOS: Análisis prospectivo de todas las llamadas telefónicas realizadas al servicio brasileño de hotline para la HM, desde enero a diciembre de 2009. RESULTADOS: Se recibieron 22 llamadas; 21 provenientes del Sur y Sudeste de Brasil y una del Norte. Quince eran solicitudes de informaciones generales sobre la HM. Siete fueron sobre sospechas de crisis agudas de HM, de las cuales dos no fueron consideradas como HM. En las cinco crisis compatibles con la HM, todos los pacientes recibieron anestésicos inhalatorios halogenados (2 isoflurano, 3 sevoflurano) y uno también usó succinilcolina. Había cuatro hombres y una mujer, con un promedio de edad de 18 años (2-27). Los problemas descritos en las cinco crisis de HM: taquicardia (cinco), aumento del gas carbónico espirado (cuatro), hipertermia (tres), acidemia (uno), rabdomiólisis (uno) y mioglobinuria (uno). Un paciente recibió dantrolene. Todos los cinco pacientes con crisis de HM recibieron acompañamiento en la unidad de cuidados intensivos y se recuperaron sin secuelas. La susceptibilidad a la HM fue posteriormente confirmada en dos pacientes por medio del test de la contractura muscular in vitro. CONCLUSIONES: El número de llamadas por año al servicio brasileño de hotline para la HM todavía es pequeño. Las características de las crisis fueron similares a las descritas en otros países. Es necesario aumentar el conocimiento que se tiene sobre la HM en Brasil.
Asunto(s)
Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Adulto Joven , Líneas Directas/estadística & datos numéricos , Hipertermia Maligna/epidemiología , Brasil/epidemiología , Estudios ProspectivosRESUMEN
BACKGROUND AND OBJECTIVES: Malignant hyperthermia (MH) is a pharmacogenetic disease that causes abnormal hypermetabolic reaction to halogenated anesthetics and/or depolarizing muscle relaxants. In Brazil, there is a hotline telephone service for MH since 1991, available 24 hours a day in São Paulo. This article analyzes the activity of the Brazilian hotline service for MH in 2009. METHODS: Prospective analysis of all phone calls made to the Brazilian hotline service for MH from January to December 2009. RESULTS: Twenty-two phone calls were received: 21 from the South/Southeast region of Brazil and one from the North region. Fifteen calls were requests for general information about MH. Seven were about suspected MH acute episodes, two of which were not considered as MH. In five episodes compatible with MH, all patients received halogenated volatile anesthetics (2, isoflurane; 3, sevoflurane) and one also used succinylcholine; there were four men and one woman, with a mean age of 18 years (2-27). The problems described in the five MH episodes were tachycardia (5), increased expired carbon dioxide (4), hyperthermia (3), acidemia (1), rhabdomyolysis (1), and myoglobinuria (1). One patient received dantrolene. All five patients with MH episodes were follow-up in the intensive care unit and recovered without sequelae. Susceptibility to MH was later confirmed in two patients by in vitro muscle contracture test. CONCLUSIONS: The number of calls per year in the Brazilian hotline service for MH is still low. The characteristics of MH episode were similar to those reported in other countries. The knowledge of MH in Brazil needs to be increased.
Asunto(s)
Hipertermia Maligna/epidemiología , Adolescente , Adulto , Brasil/epidemiología , Niño , Preescolar , Femenino , Líneas Directas/estadística & datos numéricos , Humanos , Lactante , Masculino , Hipertermia Maligna/diagnóstico , Estudios Prospectivos , Adulto JovenRESUMEN
UNLABELLED: Postpolio syndrome (PPS) is characterized by progressive muscle weakness due to former infection with poliomyelitis and can be associated with other symptoms such as cold intolerance (CI). Daoyin Qìgong (DQ) is a technique in Traditional Chinese Medicine that impacts the circulation of energy and blood. OBJECTIVE: It was to verify the effects of DQ in PPS patients complaining of cold intolerance. METHODS: Ten PPS patients were assessed using the visual analogue scale (VAS) adapted for CI before and after intervention with DQ; patients practiced it in a sitting position for 40 minutes, 3 times per week over 3 consecutive months. Patients were reassessed three months after ceasing DQ. RESULTS: There was a statistically significant difference in local and systemic VAS-Cold both at the end of DQ training and three months past the end of this. CONCLUSION: The DQ technique ameliorated CI complaints in patients with PPS.
Asunto(s)
Ejercicios Respiratorios , Frío/efectos adversos , Medicina Tradicional China , Síndrome Pospoliomielitis/rehabilitación , Trastornos Somatosensoriales/rehabilitación , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadísticas no ParamétricasRESUMEN
Postpolio syndrome (PPS) is characterized by progressive muscle weakness due to former infection with poliomyelitis and can be associated with other symptoms such as cold intolerance (CI). Dăoyĭn Qìgōng (DQ) is a technique in Traditional Chinese Medicine that impacts the circulation of energy and blood. OBJECTIVE: It was to verify the effects of DQ in PPS patients complaining of cold intolerance. METHODS: Ten PPS patients were assessed using the visual analogue scale (VAS) adapted for CI before and after intervention with DQ; patients practiced it in a sitting position for 40 minutes, 3 times per week over 3 consecutive months. Patients were reassessed three months after ceasing DQ. RESULTS: There was a statistically significant difference in local and systemic VAS-Cold both at the end of DQ training and three months past the end of this. CONCLUSION: The DQ technique ameliorated CI complaints in patients with PPS.
A síndrome pós-poliomielite (SPP) é caracterizada por instalação de nova fraqueza muscular às manifestações residuais da poliomielite, associada a outros sintomas, como intolerância ao frio (IF). O Dăoyĭn Qìgōng (DQ) é uma técnica da medicina tradicional chinesa que interfere na circulação da energia e do sangue. OBJETIVO: Foi verificar os efeitos do DQ em pacientes com SPP com queixa de intolerância ao frio. MÉTODO: Dez pacientes com SPP foram avaliados com a escala visual analógica (EVA) adaptada para IF antes e após intervenção com DQ, adaptados para a posição sentada, com duração de 40 minutos, 3 vezes por semana, durante 3 meses. RESULTADOS: Verificou-se diferença estatisticamente significante, na EVA-frio local e sistêmica, após o término do treinamento. CONCLUSÃO: O DQ é uma técnica que interferiu positivamente na queixa de IF em pacientes com SPP.
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ejercicios Respiratorios , Frío/efectos adversos , Medicina Tradicional China , Síndrome Pospoliomielitis/rehabilitación , Trastornos Somatosensoriales/rehabilitación , Estadísticas no ParamétricasRESUMEN
We identified a double mutation in a patient with chronic progressive external ophthalmoplegia, located in the tRNA(Ala) (m.5628T>C) and tRNA(Lys) (m.8348A>G) genes. Both mutations were previously described separately and considered pathogenic, however the same mutations were also reported as polymorphisms or phenotype modulator. We analyzed the proportion of each mutation in isolated muscle fibers by single fiber-polymerase chain reaction to investigate the contribution of each mutation to mitochondrial deficiency. Our findings demonstrated that the mutations were heteroplasmic in skeletal muscle and both mutations were present in all single muscle fibers. The proportions of the m.5628T>C mutation were not significantly different between normal and cytochrome-c-oxidase (COX) deficient fibers. However, a significant higher proportion of the m.8348A>G mutation was observed in COX deficient fibers. Homoplasmic m.8348A>G was only observed in COX negative fibers. In conclusion, we provide a piece of evidence toward the pathogenicity of the m.8348A>G mutation and suggest that m.5628T>C is probably a neutral polymorphism.
Asunto(s)
Fibras Musculares Esqueléticas/metabolismo , Oftalmoplejía Externa Progresiva Crónica/genética , Mutación Puntual/genética , ARN de Transferencia de Alanina/genética , ARN de Transferencia de Lisina/genética , Adulto , Complejo IV de Transporte de Electrones/metabolismo , Femenino , Humanos , Mitocondrias/genética , Mitocondrias/metabolismo , Oftalmoplejía Externa Progresiva Crónica/metabolismoRESUMEN
Introdução: A síndrome pós-poliomielite (SPP) é um quadro que aparece em pessoas sobreviventes da poliomielite aguda, que após um período de estabilidade começam a sentir novos sinais e sintomas, dentre eles, fraqueza, fadiga, dor muscular e a dor articular, sendo um quadro progressivo, e até o momento, não apresenta tratamento específico. O objetivo deste estudo foi verificar por quanto tempo persistem os efeitos do tratamento de acupuntura e moxabustão em relação à qualidade de vida e dor em pacientes com SPP com queixa de dor. Método: oito pacientes foram acompanhados após o término do tratamento e mensalmente durante seis meses consecutivos, sendo 6 mulheres e 2 homens, com idades entre 40 e 58 anos, que foram submetidos a 20 sessões de acupuntura de 30 minutos cada, duas vezes por semana, durante 2 meses e meio. Para a avaliação foram aplicados a escala visual analógica (EVA) para dor, o questionário McGill para dor e o instrumento abreviado de avaliação da qualidade de vida Whoqol-bref. Os resultados não foram comparados com os do início do tratamento com acupuntura, mas todos os pacientes relatavam melhora subjetiva dos sintomas. Houve diferença estatisticamente significativa somente em EVA, mostrando retorno da dor após 6 meses do término do tratamento. Houve tendência a diferenças significantes em McGill, e diferenças consideradas não significantes no Whoqol-bref indicando manutenção da qualidade de vida, porém os pacientes relatavam, subjetivamente, piora dos sintomas. Conclusões:1. A dor teve aumento estatisticamente significativo após 6 meses de acompanhamento na Escala EVA-dor; 2. A qualidade de vida não apresentou modificação nesse período; 3. O acompanhamento após terapia dos pacientes com doenças neuromusculares é extremamente importante para se observar a interferência da técnica na história natural da doença.
Asunto(s)
Dolor , Calidad de Vida , Síndrome Pospoliomielitis , Acupuntura , Medicina Tradicional ChinaRESUMEN
Sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death. Additionally, potential pathomechanisms for SUDEP is unknown, but it is very probable that cardiac arrhythmia during and between seizures, electrolyte disturbances, arrhythmogenic drugs or transmission of epileptic activity via the autonomic nervous system to the heart may play a potential role. Quite interestingly, clinical and experimental data have shown that physical activity can decrease seizure frequency, as well as lead to improved cardiovascular health in patients with epilepsy. Based on these facts, the purpose of this article is to review the body of literature of the possible contribution of physical exercise to the SUDEP prevention in a comprehensive manner.