RESUMO
Monensin poisoning is uncommon and has been rarely reported in birds. This work aimed to described clinical-pathological aspects of an outbreak of monensin poisoning in captive and free-ranging birds. Thirty-seven of 600 captive birds fed a diet containing 893.19 mg/kg of monensin died within 10 days (mortality 6.17%). There was no ionophore antibiotics on the feed label supplied to captive birds, which established an error in feed production. Necropsies were performed on twelve animals: Muscovy duck (Cairina moschata) (2/12), greater rhea (Rhea americana) (2/12), black-necked swan (Cygnus melancoryphus) (2/12), garganey (Anas querquedula) (1/12), ostrich (Struthio camelus) (1/12), and common pigeon (Columbus livia) (4/12). These four common pigeons were free-ranging birds and died after eating the same contaminated feed. Birds were mainly found dead, however in animals which clinical signs were observed (Columba livia, Rhea americana, Cairina moschata, Anas querquedula, and Struthio camelus), they included incoordination, inability to stand, and intense prostration, that ranged from 24 to 72 h until death. Grossly, five birds had focally extensive pale firm areas in the myocardium and two had in the skeletal muscles, one being concomitant lesions. Histologically, muscle necrosis and degeneration were observed in striated musculature (skeletal and/or heart) in all birds analyzed. Monensin poisoning outbreaks can affect free-ranging birds that are fed on external feeders, as well as captive birds, due to an error in the feed formulation.
Assuntos
Monensin , Doenças Musculares , Animais , Columbidae , Miocárdio , Doenças Musculares/veterinária , CoraçãoRESUMO
Abstract Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the CPT2 gene have been described, and pathogenic mechanisms have been better elucidated. Genetic analysis of one of the original cases disclosed compound heterozygous pathogenic variants (p.Ser113Leu/p.Pro50His) in the CPT2 gene. Our report highlights the historical aspects of the first Brazilian publication of the myopathic form of CPT II deficiency and updates the genetic background of this pioneering publication.
Resumo Deficiência de carnitina palmitoiltransferase II (CPT II) é uma desordem de herança autossômica recessiva relacionada com o metabolismo do lipídio afetando músculo esquelético. Os primeiros dois casos de deficiência de CPT II causando miopatia foram relatados em 1973. Em 1983, Werneck et al. publicaram os primeiros pacientes brasileiros com miopatia por deficiência de CPT II, nos quais a análise bioquímica confirmou a atividade deficiente da CPT nos músculos em ambos os casos. Após 40 anos desde a publicação pioneira, fenótipos clínicos e loci genético no gene CPT2 foram descritos, bem com os mecanismos patológicos foram melhor elucidados. A análise genética de um dos casos da publicação original apresentou variantes patogênicas em heterozigose composta (p.Ser113Leu/p.Pro50His) no gene CPT2. O nosso relato destaca os aspectos históricos da primeira publicação brasileira da forma miopática da deficiência de CPT II e atualiza as bases genéticas dessa publicação pioneira.
RESUMO
Abstract Intramuscular hemangiomas (IHs) are benign soft-tissue tumors that represent less than 1% of all hemangiomas. This clinical entity is rarely considered as a differential diagnosis in cases of musculoskeletal pain. A healthy 38-year-old woman presented to our office with complaint of left omalgia, with 8 months of evolution, limiting her daily activities. She reported the appearance of tumefaction in the previous 4 months. She was medicated with analgesic and antiinflammatory drugs with no clinical improvement. The objective examination showed limitation of left shoulder abduction (0-90°). The patient underwent a magnetic resonance imaging (MRI), in which a well-circumscribed nodular formation was detected in the deltoid muscle. Then, she underwent a biopsy, which confirmed the diagnosis of hemangioma. The patient was referred for sclerotherapy. Intramuscular hemangiomas are usually observed in young patients. The gold-standard examination for diagnosis is MRI, which often forestalls the need for a biopsy. In many cases, IHs are asymptomatic and tend to involute over time. Despite the low frequency of this clinical entity, it is important to place it as a diagnostic hypothesis in cases of chronic pain of the limbs in young patients with poor therapeutic response to antiinflammatory drugs and analgesia.
Resumo Os hemangiomas intramusculares (HIs) são tumores benignos de tecidos moles que representam menos de 1% de todos os hemangiomas. Esta entidade clínica raramente é considerada como diagnóstico diferencial nos casos de dor musculoesquelética. Uma paciente do sexo feminino, de 38 anos de idade, saudável, se apresentou ao nosso consultório com queixa de omalgia esquerda, com 8 meses de evolução, que limitava suas atividades diárias. Ela relatou o aparecimento de tumefação 4 meses antes da consulta. A paciente estava medicada com analgésico e antiinflamatório sem melhoria clínica. Ao exame objetivo, ela apresentava limitação da abdução do ombro esquerdo (0-90°). A paciente foi submetida a uma ressonância nuclear magnética (RNM) na qual foi detectada uma formação nodular bem circunscrita no músculo deltoide,. Em seguida, foi realizada uma biópsia que confirmou o diagnóstico de hemangioma. A paciente foi então encaminhada para a realização de escleroterapia. Os HIs normalmente são observados em pacientes jovens. O exame padrão-ouro para o diagnóstico é a RNM, que muitas vezes torna a realização de biópsia desnecessária. Em muitos casos, os HIs são assintomáticos e tendem a involuir com o tempo. Apesar da baixa frequência desta entidade clínica, é importante colocá-la como hipótese de diagnóstico em casos de dor crônica dos membros em pacientes jovens com má resposta terapêutica a antiinflamatórios e analgesia.
Assuntos
Humanos , Feminino , Adulto , Saúde Ocupacional , Hemangioma , Doenças MuscularesRESUMO
Abstract Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3-R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG, and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort.
Resumo A distrofia muscular de cinturas (DMC) é um grupo de miopatias que leva à fraqueza muscular progressiva, e envolvendo predominante as cinturas escapular e pélvica. A DMCtem uma etiologia genética heterogênea, com variação na prevalência de subtipos de acordo com as origens étnicas e geográficas das populações. O objetivo deste estudo foi analisar uma série de pacientes com DMC do tipo autossômico recessivo (DMC-R) para contribuir para uma melhor caracterização da doença e encontrar a proporção relativa dos diferentes subtipos em uma coorte do Sul do Brasil. A população amostral foi composta por 36 pacientes com DMC-R. O painel de sequenciamento de nova geração com 9 genes revelou variantes em 23 pacientes com DMC (64%), e identificou calpainopatia (DMC-R1) em 26%, disferlinopatia (DMC-R2) em 26%, sarcoglicanopatias (DMC-R3-R5) em 13%, teletoninopatia (D-MCR7) em 18%, distroglicanopatia (D-MCR9) em 13%, e anoctaminopatia (DMC-R12) em 4% dos pacientes. Nesses 23 pacientes com DMC, havia 27 variantes diferentes nos genes ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG e TCAP. Foram encontradas diferentes variantes em diferentes éxons desses genes, com exceção do gene TCAP, para o qual todos os pacientes eram portadores da variante p.Gln53*, e do gene FKRP, que apresentou recorrência da variante p.Leu276Ile. As características fenotípicas, genotípicas e imuno-histoquímicas musculares desta coorte do Sul do Brasil foram analisadas.
RESUMO
Introduction: HyperCKemia is defined as the elevation of creatine phosphokinase (CK) levels greater than 1.5 times the upper limit (CK>285 U/L), being produced by multiple causes, which vary according different populations. The main objective of the study was to know the frequency of hyperCKemia in two hospitals in Córdoba and its main causes. Methods: Retrospective analytical study in two hospitals in Córdoba, Argentina, where all patients over 18 years of age who presented CK values ââgreater than 285 U/L on at least 2 occasions in a period between 1 and 4 weeks were identified, between the years 2015 and 2017. Results: 254 patients with hyperCKemia were identified, the majority were male (n=181, 71.3%) and their median age was 65 years (interquartile range 25-75%=50-73 years). The main causes of hyperCKemia were ischemic myopathy in 99 (39%) patients and drug-induced myopathies in 45 (17.7%), with statins being the most frequently involved drugs in 31 cases. In only 3.1% of the cases the final diagnosis was not reached. Drug-induced hyperCKemias, when compared to other causes, occurred more frequently in patients with a history of chronic kidney disease (9/45 [20%] vs 18/209 [8.6%], p = 0.025) and in non-smokers (41/45 [91.1%] vs. 157/209 [75.1%], p=0.019). Main conclusion: 254 cases of hyperCKemia were observed, the main causes being of ischemic origin and secondary to drug use, especially statins.
Introducción: Se denomina hiperCKemia a la elevación de niveles de creatinfosfoquinasa (CK) mayor a 1,5 veces el límite superior(CK>285 U/L), siendo producida por múltiples causas, que varían según las poblaciones de estudio. El objetivo principal del estudio fue conocer la frecuencia de hiperCKemia en dos hospitales de la Ciudad de Córdoba y sus principales causas. Metodología: Estudio analítico retrospectivo en dos hospitales de la ciudad de Córdoba en Argentina, donde se identificaron todos los pacientes mayores de 18 años que presentaron valores de CK mayores a 285 U/L en al menos 2 oportunidades en un período entre 1 y 4 semanas, entre los años 2015 y 2017. Resultados: Se identificaron 254 pacientes con hiperCKemia, la mayoría eran de sexo masculino (n=181, 71.3%) y su mediana de edad fue 65 años (rango intercuartil 25-75%=50-73 años). Las principales causas de hiperCKemia fueron la miopatía isquémica en 99 (39%) pacientes y las miopatías inducidas por drogas en 45 (17.7%), siendo las estatinas las drogas más frecuentemente involucradas en 31 casos. En sólo el 3.1% de los casos no se arribó al diagnóstico final. Las hiperCKemias inducidas por drogas al compararse con las otras causas, se presentaron más frecuentemente en pacientes con antecedente de enfermedad renal crónica (9/45[20%] vs 18/209[8.6%], p=0.025) y en no tabaquistas(41/45[91.1%] vs 157/209[75.1%], p=0.019) . Conclusión: Se observaron 254 casos de hiperCKemia, siendo sus principales causas de origen isquémico y secundario a consumo de fármacos, especialmente por estatinas.
Assuntos
Inibidores de Hidroximetilglutaril-CoA Redutases , Insuficiência Renal Crônica , Humanos , Masculino , Feminino , Adolescente , Adulto , Creatina Quinase , Estudos Retrospectivos , HospitaisRESUMO
Introduction: Teaching virtually can cause symptoms related to muscle pain due to bad postures when working with computers. Objective: To determine the presence of musculoskeletal disorders in university professors who telework during the COVID-19 pandemic. Materials and methods: Analytical cross-sectional study in professors from health programs at a northeastern Colombian university. The validated Spanish version of the Nordic Kuorinka questionnaire was used (Cronbach's alpha 0.8-0.9). Using non-probabilistic sampling and an instrument applied virtually, 68 professors were included in the study. The dependent variable was presence of musculoskeletal disorder, whereas the independent ones were the sociodemographic conditions related to telework. The Fisher or were used for qualitative variables. Comparison of means were carried out through Student's t test. p<0.05 values were interpreted as statistical association. Results: 67.7% of participants reported musculoskeletal disorder in at least one anatomical site, being the neck the one mostly affected. Female gender and seniority in teaching practice showed an association with the disorder (p<0.05). Conclusion: Working conditions triggered by teleworking during the pandemic are associated with the presence of musculoskeletal disorders in professors.
Introducción: El ejercicio de la docencia en modalidad virtual puede desencadenar síntomas relacionados con dolor muscular debido a las malas posturas frente al computador. Objetivo: Determinar la presencia de trastornos musculoesqueléticos en docentes universitarios que realizan teletrabajo durante la pandemia por COVID-19. Materiales y métodos: Estudio analítico de corte transversal en docentes de programas de salud de una universidad del nororiente colombiano. Se usó el cuestionario Nórdico Kuorinka, validado y adaptado al español Aalfa de Cronbach 0,8-0,9], a partir de muestreo no probabilístico se incluyeron 68 docentes mediante instrumento aplicado en formato virtual. La variable dependiente fue la presencia del trastorno musculoesquelético y variables independientes las sociodemográficas y relacionadas con teletrabajo. Se usó el Test de Fisher en variables cualitativas. La comparación de medias se hizo con prueba t de Student. Se interpretó como asociación estadística valores de p<0,05. Resultados: El 67,6% manifestó trastorno musculoesquelético en al menos un sitio anatómico; el cuello fue el área más afectada. El sexo femenino y la antigüedad en el ejercicio de la docencia mostraron asociación con el trastorno (p<0,05). Conclusión: Las condiciones laborales generadas por el teletrabajo durante la pandemia se asocian con la presencia de trastornos musculoesqueléticos en docentes.
Assuntos
Humanos , Educação , Pandemias , Teletrabalho , Saúde Ocupacional , Pessoal de Educação , COVID-19 , Condições de Trabalho , Movimento , Doenças MuscularesRESUMO
Objective Histological and macroscopic evaluation of the healing process of acute lesions of the femoral rectus muscle using stem cells derived from adipose tissue-derived stem cells (ADSCs). Method An experimental study was conducted with 18 hind legs of New Zealand rabbits, which were divided into three study groups according to the intervention to be performed. In group I, no surgical procedure was performed; in group II-SHAN, the experimental lesion was performed without any additional intervention protocol; in group III-Intervention, the addition of ADSCs was performed in the same topography of the experimental lesion. After the proposed period, 2 weeks, the material was collected and submitted to macroscopic and histological evaluation. Results The quantitative analysis showed that the addition of ADSCs is related to the reduction of inflammatory cells in the 2-week evaluation (164.2 cells in group II - SHAN to 89.62 cells in group III - ADSC). The qualitative analysis of the slides with Picrosirius red, noticed an increase in orange/yellow fibers in group III - ADSC, which evidences a final healing process. The macroscopic evaluation found no difference between the groups. Conclusion The use of ADSCs in the treatment of acute muscle injury presented histological advantages when compared to their non-use.
RESUMO
Abstract Objective Histological and macroscopic evaluation of the healing process of acute lesions of the femoral rectus muscle using stem cells derived from adipose tissue-derived stem cells (ADSCs). Method An experimental study was conducted with 18 hind legs of New Zealand rabbits, which were divided into three study groups according to the intervention to be performed. In group I, no surgical procedure was performed; in group II—SHAN, the experimental lesion was performed without any additional intervention protocol; in group III—Intervention, the addition of ADSCs was performed in the same topography of the experimental lesion. After the proposed period, 2 weeks, the material was collected and submitted to macroscopic and histological evaluation. Results The quantitative analysis showed that the addition of ADSCs is related to the reduction of inflammatory cells in the 2-week evaluation (164.2 cells in group II - SHAN to 89.62 cells in group III - ADSC). The qualitative analysis of the slides with Picrosirius red, noticed an increase in orange/yellow fibers in group III - ADSC, which evidences a final healing process. The macroscopic evaluation found no difference between the groups. Conclusion The use of ADSCs in the treatment of acute muscle injury presented histological advantages when compared to their non-use.
Resumo Objetivo Avaliação histológica e macroscópica do processo de cicatrização das lesões agudas do músculo reto femoral, com utilização de células-tronco derivadas de tecido adiposo (ADSCs, na sigla em inglês). Método Foi realizado um estudo experimental com 18 patas traseiras de coelhos Nova Zelândia, que foram divididos em três nos grupos de estudo de acordo com a intervenção a ser realizada. No grupo I não foi realizado procedimento cirúrgico; no grupo II - SHAN foi realizado a lesão experimental sem nenhum protocolo de intervenção adicional; e no grupo III - Intervenção foi realizado a adição de ADSCs na mesma topografia onde foi realizada a lesão experimental. Após o período proposto, 2 semanas, o material foi coletado, submetido a avaliação macroscópica e histológica. Resultados A análise quantitativa demonstrou que a adição de ADSCs está relacionada com a diminuição de células inflamatórias na avaliação com 2 semanas (164,2 células no grupo II - SHAN para 89,62 células no grupo III - ADSC). A análise qualitativa das lâminas coradas com Picrosírius red demonstrou um aumento das fibras de cor laranja/amarela no grupo III - ADSC, o que evidencia um processo final de cicatrização. A avaliação macroscópica não encontrou diferença entre os grupos. Conclusão A utilização de ADSCs no tratamento de lesão muscular aguda apresentou vantagens histológicas quando comparada a sua não utilização.
Assuntos
Animais , Coelhos , Regeneração , Medicina Regenerativa , Células-Tronco Mesenquimais , Músculos , Doenças MuscularesRESUMO
BACKGROUND: Becker's type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is caused by mutations in the CLCN1 gene, which encodes for a chloride channel mainly expressed in the striated muscle. Most cases have been reported in the European population, and only mexiletine has demonstrated a randomized placebo-controlled, double-blinded effectiveness. CASE PRESENTATION: We present two male siblings from Colombia with Latino ancestry, without parental consanguinity, with myotonia during voluntary movements, muscle hypertrophy of lower extremities, transient weakness, and severe muscle fatigue after exercise from three years of age. A genetic panel for dystrophic muscle disorders and a muscle biopsy were both negative. Genetic testing was performed in their second decade of life. Both patients' exomic sequencing test reported the mutation c.1129C >T (p.Arg377*) affecting exon 10 of the CLCN1, generating a premature stop codon. This mutation was described as pathogenic and observed in only one other patient in the United Kingdom. CONCLUSION: To our knowledge, these are the first cases of Becker's type myotonia congenita reported in Colombia. Increasing awareness of healthcare providers for this type of disease in the region could lead to the identification of undiagnosed patients. Limited availability of medical geneticists as well as genetic testing may be the cause of the lack of previous description of cases, in addition to the delay in the diagnosis of the patients. Further epidemiological studies can reveal underdiagnosed myotonias in the country and in the Latin-American region.
RESUMO
Vertebrate skeletal muscle development and repair relies on the precise control of Wnt signaling. Dact1 (Dapper/Frodo) is an important modulator of Wnt signaling, interacting with key components of the various Wnt transduction pathways. Here, we characterized Dact1 mRNA and protein expression in chicken and mouse fetal muscles in vivo and during the differentiation of chick primary and mouse C2C12 myoblasts in vitro. We also performed in silico analysis to investigate Dact1 gene expression in human myopathies, and evaluated the Dact1 protein structure to seek an explanation for the accumulation of Dact1 protein aggregates in the nuclei of myogenic cells. Our results show for the first time that in both chicken and mouse, Dact1 is expressed during myogenesis, with a strong upregulation as cells engage in terminal differentiation, cell cycle withdrawal and cell fusion. In humans, Dact1 expression was found to be altered in specific muscle pathologies, including muscular dystrophies. Our bioinformatic analyses of Dact1 proteins revealed long intrinsically disordered regions, which may underpin the ability of Dact1 to interact with its many partners in the various Wnt pathways. In addition, we found that Dact1 has strong propensity for liquid-liquid phase separation, a feature that explains its ability to form nuclear aggregates and points to a possible role as a molecular 'on'-'off' switch. Taken together, our data suggest Dact1 as a candidate, multi-faceted regulator of amniote myogenesis with a possible pathophysiological role in human muscular diseases.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Desenvolvimento Muscular , Músculo Esquelético/metabolismo , Doenças Musculares/metabolismo , Mioblastos/metabolismo , Proteínas Nucleares/metabolismo , Proteínas de Ligação a RNA/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Animais , Diferenciação Celular , Núcleo Celular/metabolismo , Proliferação de Células , Galinhas , Feminino , Humanos , Camundongos , Músculo Esquelético/citologia , Doenças Musculares/patologia , Mioblastos/citologia , Proteínas Nucleares/genética , Proteínas de Ligação a RNA/genéticaRESUMO
PURPOSE OF REVIEW: The aims of this review are to discuss the imaging modalities used to assess muscle changes in myopathies, to provide an overview of the inherited myopathies focusing on their patterns of muscle involvement in magnetic resonance imaging (MR), and to propose up-to-date imaging-based diagnostic algorithms that can help in the diagnostic workup. CONCLUSION: Familiarization with the most common and specific patterns of muscular involvement in inherited myopathies is very important for radiologists and neurologists, as imaging plays a significant role in diagnosis and follow-up of these patients. KEY POINTS: ⢠Imaging is an increasingly important tool for diagnosis and follow-up in the setting of inherited myopathies. ⢠Knowledge of the most common imaging patterns of muscle involvement in inherited myopathies is valuable for both radiologists and neurologists. ⢠In this review, we present imaging-based algorithms that can help in the diagnostic workup of myopathies.
Assuntos
Doenças Musculares , Algoritmos , Humanos , Imageamento por Ressonância Magnética , Músculos , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/genética , RadiologistasRESUMO
Peripheral neuropathy is common, but rarely due to vasculitis. This report is the case of a 74-year-old woman with systemic vasculitis who presented with progressive arm and leg weakness associated with numbness. Autopsy revealed a colon cancer, which may have triggered the vasculitis. This case illustrates the association between vasculitis and malignancy. The best treatment of vasculitis in patients with cancer-associated vasculitis is usually treatment of the cancer, which often yields remission of the vasculitis. This case also illustrates the difficulty of suspecting vasculitis since the symptoms and signs are nonspecific and protean. It is important not to miss a diagnosis of vasculitis. It is often life-threatening. It is treatable. The critical step in the diagnosis of vasculitis is to think of it.
RESUMO
Peripheral neuropathy is common, but rarely due to vasculitis. This report is the case of a 74-year-old woman with systemic vasculitis who presented with progressive arm and leg weakness associated with numbness. Autopsy revealed a colon cancer, which may have triggered the vasculitis. This case illustrates the association between vasculitis and malignancy. The best treatment of vasculitis in patients with cancer-associated vasculitis is usually treatment of the cancer, which often yields remission of the vasculitis. This case also illustrates the difficulty of suspecting vasculitis since the symptoms and signs are nonspecific and protean. It is important not to miss a diagnosis of vasculitis. It is often life-threatening. It is treatable. The critical step in the diagnosis of vasculitis is to think of it.
Assuntos
Humanos , Feminino , Idoso , Neoplasias do Colo , Polineuropatia Paraneoplásica , Vasculite Sistêmica , Sinais e Sintomas , Autopsia , Evolução Fatal , Diagnóstico Diferencial , Doenças MuscularesRESUMO
The purpose of this study is to analyze the impact of periodontal disease (PD) associated with physical exercise on inflammatory mediators and muscle repair. Twenty-four Wistar rats were divided into four groups: control (SH), healthy trained (TH), sedentary with PD (SP), and trained with PD (TP). PD was induced in groups SP and TP while the trained groups performed treadmill exercises for 8 weeks. For the analysis of IL-6, IL-10, TNF-α, and leukocyte count, we collected blood samples. Cryolesions were induced in the tibialis anterior and gastrocnemius, which were analyzed for morphological changes. The presence of PD modified leukocyte counts, while exercise showed an additive role. PD increased levels of IL-6, IL-10, and TNF-α, and physical exercise changed only values of IL-10. The association between physical exercise and PD was responsible for an increased concentration of leukocytes in the region of the inflammation. Serum levels of inflammatory markers were modified by PD and, when combined with exercise, may negatively modulate inflammation. The association between PD and physical exercise showed the most significant changes in the number of inflammatory cells and may negatively influence the process of muscle repair.
Assuntos
Quimiotaxia de Leucócito , Mediadores da Inflamação/metabolismo , Leucócitos/metabolismo , Músculo Esquelético/metabolismo , Doenças Musculares/metabolismo , Doenças Periodontais/metabolismo , Animais , Modelos Animais de Doenças , Interleucina-10/metabolismo , Interleucina-6/metabolismo , Leucócitos/imunologia , Masculino , Força Muscular , Músculo Esquelético/imunologia , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Doenças Musculares/imunologia , Doenças Musculares/patologia , Doenças Musculares/fisiopatologia , Doenças Periodontais/imunologia , Doenças Periodontais/patologia , Esforço Físico , Ratos Wistar , Recuperação de Função Fisiológica , Transdução de Sinais , Fator de Necrose Tumoral alfa/metabolismoRESUMO
ABSTRACT In this review, we discuss the therapies used in the treatment of patients with Duchenne muscular dystrophy since the first description of the disease. A short description is given of the various theories based on disease pathogenesis, which give the substrates for the many therapeutic interventions. A brief review of the methods of evaluation used in therapeutic trials is made. Of all the treatments, the only drugs that are still considered able to modify the course of the disease are the corticosteroids (prednisone/prednisolone/deflazacort). Other drugs (coenzyme Q10 and creatine) have had a little effect in a few functions without adverse reactions. Idebenone seems to improve the respiratory function in the long term. The trials with mRNA transcription, through nonsense mutations or exon 51 skipping, show some beneficial results in a few functional tests, but they are limited to a small set of DMD patients.
RESUMO Nesta revisão são discutidas as terapêuticas empregadas no tratamento da distrofia muscular de Duchenne desde a descrição da doença. Apresentamos as diversas teorias que fundamentaram as intervenções terapêuticas, com uma breve descrição dos tipos de avaliação empregados nos ensaios terapêuticos. Dentre todos os tratamentos, a única medicação que até agora modificou o curso da doença foram os corticosteroides (prednisona/prednisolona/deflazacort). A coenzima Q10 e creatina tiveram algum efeito pequeno em algumas funções e evolução da doença sem efeitos colaterais. O idebenone mostrou efeito benéfico na função respiratória em longo prazo. As tentativas de intervir no gene da distrofina utilizando técnicas de transcrição do mRNA através das mutações sem sentido e técnicas que pulam o exon 51 mostram resultado muito discreto em algumas provas funcionais e limitado a uma parcela pequena de casos.
Assuntos
Humanos , Distrofia Muscular de Duchenne/tratamento farmacológico , Bloqueadores dos Canais de Cálcio/uso terapêutico , Inibidores da Colinesterase/uso terapêutico , Distrofina/efeitos dos fármacos , Distrofina/metabolismo , Corticosteroides/uso terapêutico , Distrofia Muscular de Duchenne/metabolismo , Anti-Inflamatórios/uso terapêutico , Antioxidantes/uso terapêuticoRESUMO
ABSTRACT Quantitative electromyography is an important tool to evaluate myopathies, and some difficult-to-treat asthmatic patients may have a subclinical corticosteroid myopathic process, using only inhaled corticosteroid, according to some studies. In this report, diaphragm quantitative electromyography was used to evaluate asthmatic difficult-to-treat patients, comparing them with a control group. Significant differences were obtained in amplitude, duration and size index of motor unit action potentials, with lower parameters in the asthmatic patients, which may indicate a myopathic process.
RESUMO Eletromiografia quantitativa é uma ferramenta importante para a avaliação de miopatias, e alguns pacientes asmáticos de difícil controle podem ter um processo miopático subclínico, mesmo usando apenas corticosteroides inalatórios, de acordo com alguns artigos. Nesse artigo a eletromiografia quantitativa do diafragma foi usada para avaliar os pacientes asmáticos de difícil controle, comparando com um grupo controle. Diferenças significativas nas amplitudes, durações e índices de tamanho dos potenciais de unidades motoras foram encontradas, com parâmetros mais baixos nos pacientes asmáticos, o que pode indicar um processo miopático.
Assuntos
Humanos , Masculino , Feminino , Adulto , Idoso , Adulto Jovem , Asma/fisiopatologia , Diafragma/fisiopatologia , Eletromiografia/métodos , Valores de Referência , Asma/tratamento farmacológico , Fatores de Tempo , Potenciais de Ação/fisiologia , Estudos de Casos e Controles , Resultado do Tratamento , Corticosteroides/uso terapêutico , Estatísticas não ParamétricasRESUMO
Focal bone lesions are not uncommon findings in the daily practice of radiology. Therefore, it is essential to differentiate between lesions with aggressive, malignant potential that require action and those that have no clinical significance, many of which are variants or benign lesions, sometimes self-limited and related to reactive processes. In some cases, a diagnostic error can have catastrophic results. For example, a biopsy performed in a patient with myositis ossificans can lead to an incorrect diagnosis of sarcomatous lesions and consequently to mutilating surgical procedures. The present study reviews the main radiological aspects of the lesions that are most commonly seen in daily practice and have the potential to be confused with aggressive, malignant bone processes. We also illustrate these entities by presenting cases seen at our institution.
O achado de lesões ósseas focais não é incomum no dia-a-dia do radiologista. É, portanto, imprescindível saber discernir as lesões com potencial maligno agressivo, que requerem ação, das desprovidas de significado clínico, muitas destas sendo variantes da normalidade ou processos reativos benignos, às vezes, autolimitados. Em alguns casos, a confusão diagnóstica pode ter resultados catastróficos, como a realização de biópsia em casos de miosite ossificante, que pode levar ao diagnóstico incorreto de lesões de origem sarcomatosa e a cirurgias mutilantes. O presente estudo faz uma revisão dos principais aspectos radiológicos das lesões que mais comumente são vistas no dia-a-dia e que possuem potencial para causar confusão com processos ósseos malignos e agressivos. Ilustramos, ainda, essas lesões, apresentando casos do nosso serviço.
RESUMO
Abstract Focal bone lesions are not uncommon findings in the daily practice of radiology. Therefore, it is essential to differentiate between lesions with aggressive, malignant potential that require action and those that have no clinical significance, many of which are variants or benign lesions, sometimes self-limited and related to reactive processes. In some cases, a diagnostic error can have catastrophic results. For example, a biopsy performed in a patient with myositis ossificans can lead to an incorrect diagnosis of sarcomatous lesions and consequently to mutilating surgical procedures. The present study reviews the main radiological aspects of the lesions that are most commonly seen in daily practice and have the potential to be confused with aggressive, malignant bone processes. We also illustrate these entities by presenting cases seen at our institution.
Resumo O achado de lesões ósseas focais não é incomum no dia-a-dia do radiologista. É, portanto, imprescindível saber discernir as lesões com potencial maligno agressivo, que requerem ação, das desprovidas de significado clínico, muitas destas sendo variantes da normalidade ou processos reativos benignos, às vezes, autolimitados. Em alguns casos, a confusão diagnóstica pode ter resultados catastróficos, como a realização de biópsia em casos de miosite ossificante, que pode levar ao diagnóstico incorreto de lesões de origem sarcomatosa e a cirurgias mutilantes. O presente estudo faz uma revisão dos principais aspectos radiológicos das lesões que mais comumente são vistas no dia-a-dia e que possuem potencial para causar confusão com processos ósseos malignos e agressivos. Ilustramos, ainda, essas lesões, apresentando casos do nosso serviço.
RESUMO
ABSTRACT Objective: To determine the sensitivity and specificity of peripheral and respiratory muscle strength tests in diagnosing critical illness polyneuromyopathy (CIPNM), compared with an electrophysiological examination. Methods: Fifty septic patients who required mechanical ventilation for at least five days, and without a previous history of muscle weakness, were included. Peripheral muscle strength was assessed using the Medical Research Council (MRC) score, handgrip strength by dynamometry, and respiratory muscle strength with maximum respiratory pressures. Diagnosis of CIPNM was either confirmed or rejected by an electrophysiological examination. Receiver operating characteristic curve analysis was performed to determine the cut-off values with the best sensitivity (SN) and specificity (SP) of the studied variables in the presence or absence of CIPNM. Results: Patients with CIPNM were older, more critical (APACHE IV/SAPS 3), had a longer hospitalization, required mechanical ventilation for longer, and had a higher rate of intensive care unit readmission. Cutoff values identified CIPNM patients using MRC scores, dynamometry according to sex, maximal expiratory and inspiratory pressures, as well as being confirmed by the electrophysiological examination, with good sensitivity and specificity: < 40 (SN: 0.893; SP: 0.955); < 7 kg (SN: 1; SP: 0.909) for men, < 4 kg (SN: 0.882; SP: 1) for women; < 34 cmH2O (SN: 0.808; SP: 0.909) and > −40 cmH2O (SN: 0.846; SP: 0.909), respectively. Conclusion: The MRC score, dynamometry or maximum respiratory pressures can be used to identify patients with CIPNM at the intensive care bedside assessment. The healthcare professional can choose any of the methods studied to evaluate the patient, based on his experience and the resource available.
RESUMO Objetivo: Determinar a sensibilidade (SN) e especificidade (SP) dos testes de força muscular periférica e respiratória no diagnóstico da Polineuromiopatia do Doente Crítico (PNDC) em comparação com o estudo eletrofisiológico. Métodos: Foram incluídos 50 pacientes sépticos, em ventilação mecânica (VM) durante pelo menos cinco dias e sem história prévia de fraqueza muscular. A força muscular foi avaliada utilizando o escore Medical Research Council (MRC), a força de preensão palmar e as pressões respiratórias máximas. O diagnóstico de PNDC foi confirmado ou excluído pelo estudo eletrofisiológico. A análise da curva ROC foi realizada para determinar os valores de corte com a melhor SN e SP. Resultados: Os pacientes com PNDC eram mais velhos, mais graves, tiveram hospitalização mais longa, necessitaram de VM por mais tempo e apresentaram maior taxa de readmissão na Unidade de Terapia Intensiva. Os valores de corte identificaram os pacientes com PNDC usando o MRC, a dinamometria de acordo com o sexo, as pressões expiratórias e inspiratórias máximas, também confirmado pelo estudo eletrofisiológico, com boa sensibilidade e especificidade: < 40 (SN: 0.893; SP: 0.955), < 7 kg (SN: 1; SP: 0,909) para homens, < 4 kg (SN: 0,882; SP: 1) para mulheres, <34 cmH2O (SN: 0,808; SP: 0,909) e > −40 cmH2O (SN: 0,846; SP: 0,909), respectivamente. Conclusão: Tanto o MRC, a dinamometria quanto as pressões respiratórias máximas podem ser usadas para identificar pacientes com PNDC na avaliação à beira do leito, podendo o profissional de saúde escolher qualquer um dos métodos baseado em sua experiência e no recurso disponível.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Polineuropatias/diagnóstico , Polineuropatias/fisiopatologia , Estado Terminal , Sepse/fisiopatologia , Valores de Referência , Músculos Respiratórios/fisiopatologia , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estatísticas não Paramétricas , APACHE , Eletromiografia/métodos , Força Muscular/fisiologia , Dinamômetro de Força Muscular , Testes Imediatos , Pressões Respiratórias Máximas , Unidades de Terapia IntensivaRESUMO
Se presenta el caso clínico de una paciente femenina de 30 años, quien comenzó a finales de enero del 2017 con síntomas de dolores musculares intensos en los músculos proximales de las 4 extremidades, que le impedían realizar sus actividades diarias, debilidad muscular y astenia que se agravaron progresivamente. Además se recogieron en el interrogatorio antecedentes de lesiones cutáneas, molestias al deglutir, disnea a los esfuerzos medianos que desaparecía con el reposo, tos escasa con expectoración blanquecina, ageusia, dolor en la región cervical y ligera pérdida de peso. Fue ingresada en el servicio de Medicina Interna donde se constataron cifras elevadas de CPK y otras enzimas. Se realizó electromiografía, biopsia muscular y biopsia de piel. Además se inició tratamiento con esteroides e inmunosupresores que lograron una notable mejoría clínica. Como resultado de la investigación la paciente se le diagnosticó dermatomiositis, una de las formas más frecuentes de miopatías inflamatorias idiopáticas. Su evolución fue favorable, mejorando su sintomatología y egresando con seguimiento por consulta externa.
A Clinical case of a 30 year old female patient who started by the end of January 2017 with intense pain in the muscles of the four limbs which impeded her from her daily routines , muscular weakness and asthenia which progressed severely. In addition, on interviewing antecedents of cutaneous lesions, problems at deglutition, dyspnea on exertion which disappeared at rest, cough with scarce whitish expectoration, ageusia, cervical pain and slight weight loss. She was admitted at the Internal Medicine ward and high values of Creatinine and Phosphokinase and other enzymes. An electromyography and a muscle and skin biopsies were performed. In addition, itwas started a treatment with steroids and inmmuno-depressors which had a noticeable clinical improvement. As a result of the study the patient was diagnosed with dermatomiositis, one of the most frequent forms of inflammatory idiopathic myopathies. It progressed favorably, improving the symptoms and she was discharged with follow up by outpatient consultation