Search

BACKGROUND: McArdle disease, also known as type V glycogen storage disease, is an autosomal recessive hereditary metabolic myopathy, in which there is minimal or no production of the glycogen phosphorylase enzyme in muscle and is characterized by exercise intolerance, in addition to elevated creatine kinase levels, which can lead to rhabdomyolysis. CLINICAL CASE: A 25-year-old male patient, cared at the Internal Medicine service for myopathy and increased creatine kinase in whom the electromyography was normal and the muscle biopsy did not provide specific data, but the diagnosis of McArdle disease was concluded by genetic study. CONCLUSIONS: In McArdle disease laboratory, electrodiagnostic, and imaging studies may be normal and nonspecific. This disease should be suspected in young people with intolerance to physical activity. [ABSTRACT FROM AUTHOR]

Copyright of Fisioterapia Brasil is the property of Atlantica Editora and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A intensa seleção genética devido à necessidade econômica de maior ganho de peso em menor tempo de abate tem alterado o comportamento fisiológico dos animais e ocasionando danos ao tecido muscular. O White Striping (WS) em frangos é caracterizado pelo aparecimento de estrias brancas na carne do peito e da coxa paralelas a direção das fibras musculares e pode ser categorizada como normal (NORM), moderada (MOD) ou severa (SEV). As estrias do WS são facilmente identificadas na superfície da carne de frango e podem afetar diretamente a aceitação e intenção de compra dos consumidores. Este estudo teve como objetivo determinar a incidência do WS e caracterizar a carne do peito de frango quanto ao pH, cor, tamanho, composição química, colágeno total (CT) e colágeno solúvel (CS), capacidade de retenção de água (CRA), perda por cocção (PC), força de cisalhamento (FC), capacidade emulsificante (CE) e perfil de ácidos graxos. A incidência do WS (n= 660) foi de 51.67% e 31.36% para MOD e SEV, respectivamente. Os maiores valores de L* foram observados nas carnes classificadas como MOD e SEV. Os valores de espessura cranial foram maiores nas carnes SEV, com 29% mais CT, 26% mais PC, 27% mais lipídeos e FC quando comparado ao grupo NORM. Não foram observadas diferenças significativas para as demais determinações.

La distrofia muscular oculofaríngea es un raro trastorno genético caracterizado clínicamente por ptosis palpebral y dificultades deglutorias. Con este trabajo se pretende hacer una descripción detallada de un caso particular, poniendo de manifiesto la relevancia de los hallazgos electromiográficos, además se propone realizar una exhaustiva revisión bibliográfica sobre el tema. Fue un estudio clínico, neurofisiológico y molecular de una paciente de 82 años remitida a la Unidad de Neurofisiología Clínica por ptosis palpebral bilateral y disfagia progresiva. El estudio electromiográfico objetivó la existencia de una miopatía de predominio facial y el estudio molecular confirmó la existencia de una expansión patológica de 12 repeticiones en el tracto poli-alanina del gen PABPN1. La distrofia muscular oculofaríngea es una enfermedad infradiagnosticada que puede pasar desapercibida, simulando otros procesos patológicos. Un riguroso estudio neurofisiológico es fundamental para llevar a cabo un diagnóstico de sospecha así como para orientar el posterior diagnóstico molecular.

Copyright of Heart & Vascular Diseases / Choroby Serca & Naczyn is the property of VM Medica-VM Group (Via Medica) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Antecedentes: las miopatías genéticas en el adulto son infrecuentes y representan un reto diagnóstico. Con el advenimiento de paneles de secuenciación de siguiente generación se han catalogado molecularmente estas enfermedades, permitiendo un mejor abordaje, seguimiento, pronóstico y tratamiento. Objetivo: describir la frecuencia de los principales fenotipos clínicos de miopatía de origen genético en adultos en un centro de tercer nivel en México. Metodología: se realizó un estudio transversal, se incluyeron a todos los pacientes con diagnóstico clínico de miopatía genética de una clínica de enfermedades neuromusculares del 2017 a 2021. Se recabaron características clínicas y paraclínicas al momento del diagnóstico, reporte de biopsia muscular y estudio genético. Resultados: se incluyeron 85 pacientes. La media de edad de inicio de síntomas fue a los 27, con un retraso en el diagnóstico de 7 años. Los principales fenotipos clínicos son: distrofia de cinturas (28%), distrofia miotónica tipo 1 (26.8%), miopatía congénita (17.1%), miopatía metabólica (9.8%), oculofaríngea (7.3%) y facioescapulohumeral (6.1%). Conclusión: las principales miopatías de origen genético en nuestra población son la distrofia miotónica tipo 1 y la distrofia de cinturas. El reconocimiento de ellas es importante para la apropiada consejería, seguimiento, pronóstico y tratamiento de potenciales condiciones asociadas. [ABSTRACT FROM AUTHOR]

Introduction: autoimmune necrotizing myositis is a rare disease in our environment, but it constitutes one of the forms of autoimmune inflammatory myopathies in approximately 20% of cases. Case report: This paper presents the case of a patient who was hospitalized in the internal medicine service who had a favorable outcome after his diagnosis. Conclusion: Autoimmune necrotizing myositis is an inflammatory myopathy that is difficult to diagnose, but is increasingly prevalent among myopathies. [ABSTRACT FROM AUTHOR]

Polysaccharide storage myopathy (PSSM) is a genetic disorder or by undetermined cause characterized by the abnormal accumulation of glycogen and polysaccharides in skeletal muscle fibers. The present report describes two Percheron horses, from different properties in the municipality of Pouso Redondo - SC, with locomotor clinical signs that started after work. The clinical signs observed were rigid gait, mainly of the pelvic limbs, muscle weakness, and recumbency. In the first case, the animal was diagnosed with severe multifocal rhabdomyonecrosis, moderate multifocal myoglobin nephrosis and severe diffuse transmural fibrinonecrotic gastritis. PSSM was confirmed by the presence of polysaccharide inclusions in myofiber sarcolemma visualized by periodic acid-Schiff (PAS) staining. In the second case, the horse presented two episodes of muscle disorder after work. The therapeutic protocol was based on penicillin, flunixin meglumine and fluid therapy with ringer lactate. An increase in creatine kinase (669.0 UI/L) and aspartate aminotransferase (669.0 UI/L) was observed in the serum biochemical evaluation. Research for mutation in the GYS1 gene was performed, with a positive heterozygote result. After rest and gradual recovery, the horse was only submitted to light work, with no return of the clinical condition since then. Thus, this report describes two cases of PSSM with distinct clinical evolution and diagnostic methods. [ABSTRACT FROM AUTHOR]

Patient presents in ER with symptoms and history indicative of infectious disease, with muscle pain and double vison being the main complaints. After several consultations, it is decided to admit the patient to the internal medicine ward, where following clinical investigation focused on a differential diagnosis of eosinophilia and myopathy. Paciente acude al servicio de urgencias con un cuadro compatible con patología infecciosa, siendo dolor muscular y visión doble las principales quejas. Tras consultar con diferentes servicios, se decide ingreso en el servicio de medicina interna, donde la investigación clínica se focaliza en un diagnóstico diferencial de eosinofilia y miopatía.

Background: Juvenile dermatomyosis (JDM) is a rare disease, although it is the most common inflammatory myopathy in childhood. The early therapy has been shown to considerably decrease disease morbidity and mortality. Due to the rarity of JDM, describing new cases becomes of great value for the process of continuing medical education in Pediatrics. Aim: To report a single case of JDM treated at our Service. Case Report: This was a patient with a history of delay in motor development, who was admitted to our Service at the age of two due to a fracture of the left femur. After the first hospitalization, she continued with follow-up in outpatient clinics of different specialties, in an attempt to investigate her condition in a multidisciplinary way. Later, she was admitted again with fever and pain in the right upper limb. During follow-up with the rheumatologist, it was observed that the patient had characteristic manifestations of JDM, such as photosensitive malar rash, heliotropes and Gottron's papules. Subsequently, she started treatment with methylprednisolone in pulse therapy for three days, in addition to cyclophosphamide cycles, ending the therapy with prednisone 2mg / kg / day. Since then, the patient has been followed up. Conclusion: JDM, despite its usual rarity, has characteristic signs such as photosensitive malar rash, proximal myopathy, heliotropes and Gottron's papules, which should always be considered in the early diagnosis and treatment. Furthermore, the identification of specific antibodies can be useful for the diagnosis of most patients, and unusual signs such as chorioretinopathy may indicate the presence of the disease. [ABSTRACT FROM AUTHOR]

Copyright of Summa, Animali da Compagnia is the property of Point Veterinaire Italie s.r.l. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Galicia Clínica is the property of Sociedad Gallega de Medicina Interna and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Many patients report persistent symptoms attributable to dysfunction of the peripheral nervous and muscular systems after acute COVID-19. These symptoms may constitute part of the so-called post–acute COVID-19 syndrome (PACS), or may result from neuromuscular complications of hospitalisation in intensive care units (ICUs). This article provides an updated review of symptoms of potential neuromuscular origin in patients with PACS, differentiating symptoms according to muscle, peripheral nerve, or autonomic nervous system involvement, and analyses the forms of neuromuscular involvement in patients who were admitted to the ICU due to severe COVID-19. Resumen: Los pacientes que han padecido COVID-19 frecuentemente refieren síntomas persistentes atribuibles a disfunción del sistema nervioso periférico y muscular. Estos síntomas pueden formar parte del denominado síndrome COVID-19 post-agudo (post-acute COVID-19 syndrome o PACS) o pueden surgir como consecuencia de las complicaciones neuromusculares del ingreso en unidades de cuidados intensivos (UCI). En este manuscrito se realiza una revisión actualizada de los síntomas de potencial origen neuromuscular en pacientes afectos de PACS, diferenciándolos en función de su posible origen a nivel de músculo, nervio periférico o sistema nervioso autónomo, así como las formas de afectación neuromuscular en pacientes que precisaron ingreso en UCI por COVID-19 grave.

Introducción: Las estatinas han mostrado ser una herramienta esencial en la prevención de eventos cardiovasculares, sin embargo, sus efectos adversos sobre el músculo esquelético conocidos como SAMS (Statin-Associated Muscle Symptoms) son frecuentes y motivan la falta de adherencia al tratamiento. Es necesario superar esta barrera con nuevas estrategias, se ha sugerido en diferentes estudios que la suplementación de vitamina D o de coenzima Q10 (CoQ10) podrían revertir este inconveniente. El objetivo de este trabajo es revisar y comparar la evidencia disponible sobre CoQ10 y la vitamina D como posibles candidatos para el manejo de las SAMS. Método: Se ha realizado una búsqueda bibliográfica de la literatura, las bases de datos consultadas fueron Medline a través de PubMed y Scopus. Resultados: Los ensayos clínicos que evaluaron la suplementación de CoQ10 con este fin obtuvieron conclusiones dispares, la suplementación oral aumentó las concentraciones séricas, pero no se ha confirmado con claridad que este incremento se transfiera al tejido musculo-esquelético ya que pocos ensayos emplearon biopsias, además, cuando se emplearon arrojaron resultados contrapuestos. Respecto a la vitamina D, destacaron estudios transversales y retrospectivos en los que se evidenció que la hipovitaminosis D se asocia a exacerbación de estas miopatías asociadas, en cambio, los ensayos que valoraron la suplementación no obtuvieron una evidencia unánime. Conclusión: No se pueden recomendar suplementos de CoQ10 de modo confiable para tratar SAMS. El estatus de vitamina D al inicio de la terapia con estatinas es un buen marcador de riesgo y mejora el pronóstico de las miopatías asociadas, en cambio, se necesitan más ensayos clínicos controlados con placebo para contrastar la utilidad en suplementación.

Copyright of Revista Academica Ciencia Animal is the property of Revista Academica Ciencia Animal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Academica Ciencia Animal is the property of Revista Academica Ciencia Animal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To describe the neurological symptoms and signs in SARS-CoV2 infection. Acquisition of evidence: A bibliographic search was carried out, in English, Spanish and Portuguese, in PubMed and LILACs databases. One hundred fourteen articles published from January 2020 to July 2, 2020 were selected, which addressed the clinical manifestations and neurological complications in SARSCoV2 infection. The search terms were COVID-19, SARS-CoV2, CoV-2, in combination with the terms nervous system, neurological manifestations, neurological symptoms, neuro-psychiatric symptoms, neurological damage, demyelination, neurological complications, encephalopathy, disease cerebrovascular, and encephalitis. Results: Neurological symptoms and signs are frequent in patients with COVID-19. The clinical manifestations of the central nervous system, musculoskeletal and peripheral nervous system are observed in both COVID-19, severe and non-severe forms. Headache, taste and smell alterations, and myalgias are referred to in the non-severe and severe forms of the disease. Disorders of consciousness, delirium, and pyramidal signs are characteristic of severe COVID-19. In the advanced phase of the disease, symptoms compatible with peripheral nerve involvement, dysautonomia, and myopathies are exhibited. Conclusions: The current epidemiological panorama requires that attending physicians be aware of the wide spectrum of neurological symptoms and signs of COVID19 for early diagnosis of the disease and complications. The inclusion of neurological practice in the diagnostic-therapeutic protocols allows optimizing the care of patients with COVID-19. [ABSTRACT FROM AUTHOR]

BACKGROUND: Dermatomyositis is an autoimmune disorder part of the inflammatory myopathies with multisystemic involvement. This entity is characterized by symmetric progressive muscle weakness and multiple cutaneous manifestations. CLINICAL CASE: A female patient in her mid-seventies who presented a paraneoplastic phenomenon as a variation of this entity. CONCLUSIONS: Dermatomyositis is a dermatosis with muscle and systemic damage and autoimmune origin and in adult patients its paraneoplastic relation has to be suspected, especially with adenocarcinomas. [ABSTRACT FROM AUTHOR]

Miosite dos músculos mastigatórios é uma inflamação dos músculos responsáveis pela mastigação dos cães, sendo uma doença idiopática e auto-imune. Pode ocorrer em cães de qualquer raça, havendo uma maior prevalência em cães jovens e de meia-idade. Dentre os sinais clínicos podem ser citados relutância em se alimentar, salivação excessiva, edema dos músculos temporais, dor ao abrir a mandíbula, atrofia dos músculos que compõe a mastigação, dentre outros. A terapêutica constitui o uso de doses imunosupressoras de corticosteróides, fazendo a regressão gradualmente, podendo ser associado com terapia de suporte, como no uso de protetores gástricos. O presente trabalho teve como objetivo o relato de um caso clínico de um canino, do sexo feminino, sem raça definida cujos sinais clínicos apresentados foram edema dos músculos temporais e masseter, prolapso de terceira pálpebra, salivação e trismo. O diagnóstico foi baseado no histórico do paciente, achados no exame físico e resultados dos exames complementares de imagens e laboratoriais. Foi utilizado como tratamento o uso de drogas imunossupressoras, sendo o resultado satisfatório.

El síndrome antisintetasa es una miopatía inflamatoria que se presenta con miositis, neumonitis intersticial, artritis no erosiva, fenómeno de Raynaud, esclerodactilia, manos de mecánico, calcinosis, síndrome seco y se asocia a la presencia de los anticuerpos antisintetasas principalmente anti Jo-1. El objetivo de la revisión de este caso es identificar la presentación clínica de este síndrome, lograr un rápido diagnóstico y conocer el esquema de tratamiento para disminuir la morbimortalidad de estos pacientes. A continuación, presentamos una paciente con síndrome antisintetasa y afectación pulmonar de mal pronóstico.

Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Sodium monensin is a molecule of the group of ionophores antibiotics (IAs) of the polyether carboxylic type produced from the fermentation of Streptomyces cinnamonensis. Cases of IA poisoning in animals usually occur accidentally. Fatal poisoning in horses, a non-target species and with particular sensitivity usually occurs by the consumption of these products from the toxic dose of 2-3 mg/kg. This report aims to describe the epidemiological and clinical-pathological aspects of an outbreak of ionophore antibiotic poisoning in horses due to the consumption of mineral supplementation indicated for ruminants based on sugarcane molasses. Case: Two horses were necropsied. During necropsy, fragments of various organs were collected and fixed in 10% buffered formalin, routinely processed for histology and stained with hematoxylin and eosin. The information obtained from the animal trainer was that 19 horses received approximately 25 kg of low moisture mixture based on sugarcane molasses, enriched with macro and micro minerals, vitamins and additives containing 1000 mg of monensin/kg in the trough. One day after receiving the product, five horses began to develop ataxia, reluctance to move, difficulty of accompanying the herd and arising. Out of the five, three died after three days of evolution, one after six days (equine 1) and another after 15 days (equine 2) [morbidity 26.31%]. At necropsy, diffuse pallor was observed in the gluteus medius, quadriceps femoris, semimembranosus, biceps brachii and deep pectoral muscles. Microscopically the muscle fibers were tumefied with hypereosinophilic sarcoplasm of homogeneous appearance and with loss of striations, pynotic or absent nuclei (necrosis). Multifocal areas of fibers with sarcoplasmic fragmentation were observed, with clusters of irregular eosinophilic debris, flake (floct necrosis) or granule multifocal infiltrate, predominantly of macrophages, plasma cells and eosinophils with occasional multinucleated giant cells. In the heart there was focally a extensive area of necrosis and a discrete eosinophil infiltrate. Discussion: The diagnosis of ionophore antibiotic intoxication in horses was established by epidemiological and clinical-pathological aspects. In the horses affected in this outbreak, the intoxication was due to the ingestion of sugarcane molasses containing proportions of monensin, which is not indicated for equines, becoming an unusual source for this animal species. The clinical signs reported in the intoxication under study are mostly locomotors and are directly linked to poor distribution of sodium, potassium and calcium ions in muscle cells, leading to ionic disorders that modify the muscle neurotransmission by deregulating contraction and altering movement. Usually, death of horses poisoned with IAs is related to heart failure due to degenerative cardiomyopathy. However, due to the subtlety of the histological lesions in the heart, we believe that the cause of death may also be related to a possible respiratory failure owing to a degenerative myopathy of the diaphragmatic muscle. The anatomopathological changes found in the skeletal muscles of equine intoxicated with molasses are similar to those described in this species by other authors. Compounds based on sugarcane molasses formulated for cattle containing monensin should be considered as a potential source of poisoning for horses and as a cause of degenerative myopathy, which may be an alert for caring about the handling and feeding of these animals. [ABSTRACT FROM AUTHOR]

Copyright of Revista Médica Clínica Las Condes is the property of Editorial Sanchez y Barcelo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available. Objective To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. Method Patient files were retrospectively analyzed for steroid use. Results Stabilization of muscle strength was noted in one patient, a slight improvement in two, and a slight worsening in three. In addition, variable responses of forced vital capacity and cardiac function were observed. Conclusions No overt clinical improvement was observed in patients with sarcoglycanopathies under steroid therapy. Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies.

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALys gene of the DNAmt, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy in MERRF include a substantive proportion of RRF, muscle fibers showing a deficient activity of cytochrome c oxidase (COX) and the presence of vessels with a strong reaction for succinate dehydrogenase and COX deficiency. In this review, we discuss mainly clinical and laboratory manifestations, brain images, electrophysiological patterns, histology and molecular findings as well as some differential diagnoses and treatments.

Copyright of Revista Academica Ciencia Animal is the property of Revista Academica Ciencia Animal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Academica Ciencia Animal is the property of Revista Academica Ciencia Animal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The reintroduction of missing mammal species in former habitats has recently been of high interest. In Mexico, there have been several attempts to reintroduce Antilocapra since 1967, but until now none of the trials has been successful. Nowadays, different releasing methods have been practiced for mammal species, including soft and hard release ones. The aim of this study was to provide new information, and to evaluate the success of a recent release. The study was based on the monitoring of 100 individuals (70 females, 30 males) captured in New Mexico, USA, to be released in Maderas del Carmen, Coahuila, Mexico, in two different groups. The first group (fast release) of 45 specimens (20 females, 25 males) was released in the valley at the beginning of March 2009. The second one (soft release), with 55 individuals (50 female, 5 male), was released in March 2010. For both groups, we compared the mortality rate between dispersal and soft-release vs. hard-release methods. Our results showed that the release with adaptation gave highly significant results (X2= 2, α= 0.05, p= 0.0001)). The comparison of mortality and dispersion among both methods was highly contrasting: with soft-release we obtained 4 % and 13 % of success, against 23 % and 46 %, respectively. Considering these results, we recommend the soft-release method to be used in future reintroduction attempts of Antilocapra, since more than 50 % of specimens from hard-releases died because of capture stress, or were dispersed, and thus reduced the reintroduction success chances. [ABSTRACT FROM AUTHOR]

La vitamina D es estructuralmente una hormona producida por la piel cuya función es captar calcio desde el medio externo. Se revisa brevemente su metabolismo y las consecuencias de la hipovitaminosis D. Se describe ostemalacia y miopatia por hipovitaminosis D y su tratamiento al igual que las recomendaciones actuales de aporte de vitamina D en diferentes grupos etarios. Dado que el objetivo principal es referirse a las acciones clásicas, se resumen las no clásicas en tabla al final del artículo.

Plantas do gênero Senna causam miopatia degenerativa em bovinos e o maior número de relatos envolve Senna occidentalis. O objetivo desse trabalho é relatar, pela segunda vez no Brasil, um surto de intoxicação natural por Senna obtusifolia. É descrito um surto de intoxicação por Senna obtusifolia, na região noroeste do estado do Paraná, que aconteceu em um lote de 200 vacas, com idade entre 45 e 152 meses, introduzidas em um confinamento para melhorar a condição corporal antes do parto. A área do confinamento estava invadida pela planta e as vacas permaneceram no local durante oito dias. Entre quatro e nove dias após a entrada no confinamento 20 vacas adoeceram e somente uma se recuperou. Os sinais consistiram em mioglobinúria, incoordenação e decúbito esternal permanente. As vacas doentes apresentaram aumento das atividades das enzimas creatina quinase, aspartato aminotransferase, gamaglutamiltransferase e fosfatase alcalina. Lesões na musculatura esquelética dos membros posteriores caracterizadas por áreas pálidas representaram as principais alterações observadas à necropsia de quatro bovinos. Necrose segmentar multifocal da musculatura esquelética e necrose paracentral multifocal no fígado foram as alterações histopatológicas mais relevantes. As evidências epidemiológicas, clínicas e patológicas indicam o diagnóstico de intoxicação por Senna obtusifolia. A planta demonstrou ter efeito miotóxico e hepatotóxico nos animais intoxicados e a doença foi quase sempre fatal.

OBJETIVO: A distrofia muscular de Duchenne é o tipo mais comum de miopatia genética. Contudo, existe um grande número de doenças neuromusculares hereditárias que são individualmente muito raras e sobre as quais não há muita informação clínica disponível. Este artigo de revisão baseia-se na experiência do autor em uma clínica pediátrica para tratamento de doenças musculares e apresenta orientação prática e planos terapêuticos para os problemas frequentemente encontrados. FONTES DE DADOS: O banco de dados da MEDLINE foi pesquisado com o objetivo de localizar artigos recentes e relevantes para o manejo de crianças com miopatias e neuropatias hereditárias. Uma coorte de 200 pacientes foi avaliada através de análise estatística descritiva. SÍNTESE DOS DADOS: A distrofia muscular de Duchenne representou quase metade dos diagnósticos, seguida da atrofia muscular espinhal (12%), da distrofia muscular de Becker e da distrofia miot&ocircnica (7% cada). Dezesseis pacientes (9%) apresentaram miopatia de origem desconhecida. CONCLUSÕES: Assim como ocorre com outras doenças cr&ocircnicas, esses pacientes devem passar por acompanhamento periódico realizado por profissionais de saúde desde cedo para aumentar sua expectativa de vida e melhorar sua qualidade de vida. É útil para os médicos adotarem uma abordagem estruturada ao atender crianças com transtornos neuromusculares e monitorar todos os sistemas de órgãos afetados.OBJECTIVE: Duchenne muscular dystrophy is the commonest genetic myopathy but there exist a large number of inherited neuromuscular diseases which individually are very rare and where clinical information is not widely available. This review is based on the author's experience in a pediatric muscle clinic and provides practical guidance and treatment plans for frequently encountered problems. SOURCES: A MEDLINE search was conducted to retrieve recent articles relevant to the management of children with inherited myopathies and neuropathies. A patient cohort (n = 200) was evaluated using descriptive statistics. SUMMARY PF THE FINDINGS: Duchenne muscular dystrophy accounted for almost half of the diagnoses, followed by spinal muscular atrophy (12%), Becker muscular dystrophy and myotonic dystrophy (7% each). Sixteen patients (9%) had an unknown myopathy. CONCLUSIONS: As with other chronic illnesses, these patients should be regularly reviewed by health professionals from an early age to increase life expectancy and improve quality of life. It is useful for physicians to take a structured approach when looking after children with neuromuscular disorders and to monitor all affected organ systems.

HTLV-1 is a retrovirus associated with a myriad of clinical conditions, especially hematological and neurological ones. Regarding nervous system diseases, it is of utmost importance to select those cases in which HTLV-1 infection could really be associated. This is particularly true for patients from endemic areas and for HIV-infected patients and drug users, since that these groups are at a higher risk for HTLV infection. This caution in selecting neurological patients for HTLV diagnostic tests is justified by the fact that in some circumstances the seropositivity may merely represent an epiphenomenon. In this paper we enroll some neurological conditions that have been associated with HTLV-1/2 infection in the literature and discuss the real need for HTLV-1/2 diagnostic tests in each one. Because HIV/HTLV-co-infected patients seem to be at an increased risk for neurological diseases development, a special consideration about this matter is also made.O HTLV-1 é um retrovírus associado tanto a doenças hematológicas quanto a doenças neurológicas. Em relação às doenças neurológicas, é fundamental que selecionemos aquelas em que de fato a infecção pelo HTLV-1 possa ser a causa. Isto é particularmente verdadeiro nos pacientes oriundos de áreas endêmicas e nos pacientes infectados pelo HIV e usuários de drogas, haja vista que estes grupos são de risco para infecção pelo HTLV. Este cuidado ao selecionarmos aquelas condições neurológicas que merecem ser investigadas com sorologia para o HTLV se justifica pelo fato de que nem sempre podemos afastar uma associação fortuita entre a infecção e a referida doença. Neste artigo, comentaremos sobre algumas condições neurológicas que podem estar associadas com a infecção pelo HTLV-1/2, discutindo a real necessidade de solicitar testes para o diagnóstico da infecção pelo HTLV-1/2 frente a elas. Uma breve consideração sobre a co-infecção HIV/HTLV será feita no final deste artigo tendo em vista que estes pacientes apresentam um risco aumentado para o desenvolvimento de doenças neurológicas.

A distrofia muscular de Duchenne (DMD) é um tipo de distrofia muscular em humanos caracterizada por uma doença genética ligada ao cromossomo X. O cão golden retriever portador da distrofia muscular (GRMD) tem sido intensamente estudado e considerado o modelo mais representativo para a doença observada em humanos. Assim, como forma de verificar anormalidades em órgãos internos nesses animais, foi realizado o exame ultra-sonográfico de 24 cães golden retriever saudáveis, portadores e afetados pela distrofia muscular. O exame ultra-sonográfico do GRMD diagnosticou aumento hepático de moderado a severo, incluindo os vasos hepáticos e seus ramos e aumento de ecogenicidade da vesícula biliar e vesícula urinária. Entretanto, não foram observadas imagens claras de alterações no baço e nos vasos ramos da aorta. A partir disso, acreditamos que o exame ultra-sonográfico constitui-se em um procedimento útil no acesso de órgãos abdominais em cães afetados pela distrofia muscular.Duchenne muscular dystrophy (DMD) is one type of human’s muscular dystrophy characterized by a genetic disorder linked to the X chromosome. The Golden Retriever muscular dystrophic (GRMD) has been extensively studied and considered the best resembling model to the human disease. Therefore, for identifying internal organs abnormality in GRMD, abdominal and pelvic ultrasonography was performed in 24 golden retriever dogs, either healthy or muscular dystrophic in different levels of disease. The GRMD ultrasonographic exams diagnosed moderate to severe liver enlargement, including hepatic vessels and their branches and increase of echogenicity in gallbladder and urinary bladder. However was not-clearly recognized pathologic images from spleen and aortic vessels were accessed. Therefore, we believe, the ultrasonographic exam was an useful procedure to the assessment of abdominal organs in dogs affected by muscular dystrophy.

Relatamos o caso de doente feminina, 38 anos, com diagnóstico de doença de Pompe há oito anos. Há cinco anos vinha com queixas respiratórias, evoluindo com insuficiência respiratória crónica. Em uso de CPAP (continuous positive airway pressure) nocturno há um ano, apresentava agravamento clínico progressivo. Veio encaminhada ao Hospital Universitário de Brasília, com descompensação respiratória e cor pulmonale. Iniciou-se ventilação não invasiva com dois níveis de pressões (VNI) e realizou-se polissonografia, que demonstrou a necessidade do ajuste de frequência respiratória associada aos ajustes das pressões para adequação da ventilação durante o sono. Evoluiu com melhora importante após uso da VNI.We report the case of a 38 years-old female patient with Pompe disease, diagnosed eight years ago. Respiratory complaints appeared five years ago progressing to chronic respiratory failure. Nocturnal CPAP (continuous positive airway pressure) was prescribed last year, presenting progressive clinical worsening. She was referred to Hospital Universitário de Brasília, on account of respiratory failure and cor pulmonale. Thus, she began non-invasive ventilation (NIV) with bi-level positive airways pressure, and a polysomnography showed the need of spontaneous/timed mode associated with adjustments in breathing pressures to improve ventilation during sleep. There was significant clinical improvement after NIV support was established.

La encefalopatía neurogastrointestinal mitocondrial (MNGIE) es una enfermedad genética que se manifiesta desde los primeros años de vida con episodios de íleo, obstrucción intestinal, trastorno de deglución, falla de medro, miopatía, neuropatía periférica y leucoencefalopatía. Sin embargo, las manifestaciones clínicas pueden ser leves o incompletas. En la mayoría de los casos es producto de una mutación de novo, pero también puede heredarse de forma autosómica recesiva. Específicamente, la mutación c.1416 se asocia a MNGIE con neuropatía periférica severa. A continuación se describe el debut, características clínicas, hallazgos bioquímicos, neuroimagen y confirmación de la mutación c.1416 de un paciente con MNGIE pero sin enfermedad de motoneurona inferior.

O objetivo deste trabalho foi verificar a influência da idade, sexo, manejo e estado gestacional sobre a atividade sérica das enzimas: aspartato aminotransferase (AST), creatina quinase (CK) e gama-glutamiltransferase (GGT) em cavalos da raça Crioula. Foram utilizados 142 eqüinos, divididos em seis grupos: potros até um ano de idade; cavalos adultos em regime de atividade livre; cavalos adultos em treinamento; machos adultos; fêmeas não gestantes; fêmeas gestantes. O valor da CK foi mais elevado em animais adultos do que em potros, o mesmo tendo ocorrido em animais em atividade livre, comparados a animais em treinamento. Fêmeas não gestantes apresentaram valores das enzimas CK e GGT maiores que os machos; o valor da CK em fêmeas gestantes foi mais elevado do que em fêmeas não gestantes. A idade, o sexo, o manejo e o estado gestacional influenciam a atividade sérica da CK, e o sexo influencia a atividade sérica da GGT.The objective of this work was to evaluate the influence of age, sex, management and pregnancy status on aspartate aminotransferase (AST), creatine kinase (CK) and gamma-glutamyltransferase (GGT) enzymes serum activities of Crioulo horses. One hundred and forty-two horses, divided into six group were analyzed: yearlings; free activity of adult horses; training adult horses; male adult horses; nonpregnant and pregnant females. The CK enzyme activity value was higher in adult horses than in yearlings, and the same result was found when comparing free activity and training horses. Nonpregnant females had higher values for CK and GGT comparing to male horses, and CK values were higher in pregnant comparing to nonpregnant females. Age, sex, management and pregnancy status influence on CK serum activity, and sex influences on GGT serum activity.

El empleo de fármacos para tratamiento de las alteraciones neuromusculares que se presentan en el enfermo ingresado en una Unidad de Cuidados Intensivos es prácticamente inexistente. El empleo de inmunoglobulinas por vía venosa para el tratamiento de la polineuropatía del paciente crítico (PPC) no aporta ninguna evidencia para su uso. Más importancia tiene el tratamiento profiláctico, como es el caso de la administración de una perfusión de insulina para prevenir la hiperglucemias que seasocian a un mayor desarrollo de la PPC. Nuevos datos inducen a pensar que el mecanismo protector de esta perfusión, normalizando los niveles de glucosa se hacen modulando una disfunción endotelial y a unos menores niveles de dimetilarginina asimétrica (ADMA). Con respecto a la miopatía del paciente crítico o a los cuadros de bloqueo neuromuscular prolongado, el tratamiento consiste en evitar el empleo de diversos fármacos que se sabe se asocian al desarrollo de estas entidades como son los corticoides, los relajantes musculares y los aminoglucósidos. Por lo que respecta a la parálisis aguda flácida -infección por el virus del oeste del nilo se han comunicado casos anecdóticos de mejoría con el empleo de corticoides o de interferón, pero su tratamiento rutinario queda aún por establecer.The use of drugs for treating neuromuscular impairments that present in the patient admitted to the Intensive Care Unit is virtually inexistent. The use of intravenous immunoglobulins for managing polyneuropathy of the critically ill patient (PCIP) is supported by no evidence. More important is prophylactic therapy, as is the administration of insulin perfusion to prevent hyperglycemia that is associated to increased development of PCIP. New data suggest that the protective mechanism of this perfusion, which normalizes glucose levels, is achieved through the modulation of endothelial dysfunction and lowering levels of asymmetrical di-methyl arginine (ADMA). As for myopathy of the critically ill patient or conditions with prolonged neuromuscular blockade, treatment consists in avoiding the use of several drugs known to be associated with development of these conditions, such as muscle relaxants and aminoglycosides. In relation to acute flaccid paralysis -an infection caused by the Western Nile Virus, anecdotic cases have been reported of improvement with the use steroids or interferon, although routine management remains to be established.

Objetivo: Analizar las causas y manifestaciones de la debilidad muscular que desarrollan los pacientes críticos durante su estancia en la UCI y revisar la bibliografía. Desarrollo: A principios de los años 80 se describió en pacientes críticos sépticos una polineuropatía axonal mixta que clínicamente se caracterizaba por una debilidad muscular de intensidad variable que en su vertiente más grave producía tetraplejia y/o dependencia del ventilador. Casi paralelamente se describió la miopatía aguda de los cuidados intensivos en pacientes asmáticos que eran ingresados en la UCI por exacerbación de su enfermedad. Con posterioridad se observó que esta miopatía se presentaba también en pacientes trasplantados, sépticos o quemados. Hay autores que consideran a la miopatía aguda de los cuidados intensivos como la primera causa de debilidad muscular en la UCI. Conclusiones: En este artículo se describen la clínica, etiopatogenia, diagnóstico y tratamiento de la polineuropatía del paciente crítico y de la miopatía aguda de los cuidados intensivos. Los dos cuadros clínicos son diferenciables en muchas ocasiones, siendo de gran ayuda los estudios neurofisiológicos y eventualmente la biopsia muscular. Aunque algunos autores prefieren englobar estas entidades bajo el nombre de polineuromiopatía, proponemos la denominación general de Síndrome Neuromuscular Agudo en el paciente crítico término más descriptivo, que no presupone un mecanismo ni una etiología única.Objective: to analyze the causes and manifestations of muscle weakness that critically ill patients develop during their staying at the ICU, and literature review. Development: in the early 1980s, a mixed axonal polyneuropathy was described in septic critically ill patients, which clinically manifested by muscle weakness of variable severity, leading to quadriplegia and/or ventilator dependency in its most severe presentation. Almost at the same time, an acute intensive care myopathy was described in asthmatic patients admitted to the ICU for asthma exacerbation. Later on, this myopathy was also observed in transplanted, septic, or burnt patients. Several authors consider acute intensive care myopathy as the main cause of muscle weakness in the ICU. Conclusions: in this article, we describe the clinical presentation, etiopathogenesis, diagnosis, and treatment of polyneuropathy of the critically ill patient and of acute intensive care myopathy. Both clinical pictures may be differentiated, with neurophysiological studies and eventually muscle biopsy being of great help. Although some authors rather include these conditions under the name of polyneuromyopathy, we propose the general denomination of Acute Neuromuscular Syndrome of the Critically Ill Patient, a more descriptive term no presupposing a single mechanism or etiology.

La patología neuromuscular en el paciente crítico se desarrolla en dos contextos: enfermedades neurológicas primarias que requieren su ingreso en Medicina Intensiva por necesitar vigilancia estricta o ventilación mecánica y manifestaciones del sistema nervioso periférico secundarias a enfermedades sistémicas críticas. En el primer grupo son las más frecuentes el Síndrome de Guillain-Barré y la Miastenia Gravis y en el segundo la Polineuropatía y la Miopatía del paciente crítico. El patrón clínico común más frecuente consiste en el desarrollo de un cuadro de acusada debilidad y cuadriparesia cuya manifestación más típica es la necesidad de respiración asistida o la dificultad/imposibilidad para su retirada. Se consideran factores desencadenantes el fracaso multiorgánico y la sepsis en la polineuropatía y los esteroides y bloqueantes neuromusculares en la miopatía, actuando como coadyuvantes en ambos casos la malnutrición, particularmente la hipoalbimunemia, y la hiperglucemia. Considerando que la afectación neuropática y miopática coexisten con frecuencia, se ha acuñado el término polineuromiopatía del paciente crítico. Tanto el Síndrome de Guillain-Barré como la polineuropatía del paciente crítico se localizan a nivel del nervio periférico, por lo que debe efectuarse un diagnóstico diferencial entre ambos. La forma de presentación es diferente ya que el primero es una patología aguda que motiva su ingreso en UCI, mientras que la polineuropatía se adquiere durante la hospitalización. En el primero es frecuente la afectación del sistema nervioso autónomo y la disociación albúmino-citológica en el LCR, lo que no se da en la polineuropatía. Los estudios electrofisiológicos muestran signos de desmelinización con disminución de la velocidad de conducción y normalidad en la amplitud de potenciales motores en el Síndrome de Guillain- Barré frente a velocidad de conducción normal y amplitud reducida de potenciales motores en la polineuropatía axonal. La crisis miasténica afecta a la unión neuromuscular y su diagnóstico suele ser más fácil al tener en la mayoría de los casos un diagnóstico previo de miastenia gravis.La debilidad muscular aumenta durante la actividad repetida (fatiga muscular) y mejora con el reposo. Su confirmación diagnóstica se realiza con el test del edofronio y con la estimulación nerviosa repetitiva, que provoca una rápida disminución del 10-15% en la amplitud de las respuestas provocadas. La miopatía del paciente crítico se localiza en el músculo y provoca una debilidad generalizada con cuadriparesia, muy similar a la de la polineuropatía, que impide o retrasa la desconexión de la ventilación mecánica y que en sus grados avanzados puede provocar un aumento de CPK y mioglobina, junto con alteraciones en la exploración neurofisiológica. Esta última es difícil de discernir de la encontrada en la polineuropatía, aunque la normalidad en los potenciales de acción sensitiva y la redución en el potencial de ación motora con estimulación muscular directa, puede ayudar a diferenciarlos. El pronóstico funcional de las alteraciones musculares primarias suele ser bastante bueno, pero tanto la polineuropatía como la miopatía evolucionan lentamente a lo largo de semanas o meses, pudiendo quedar un importante déficit residual a los dos años en los casos más graves.Neuromuscular pathology in the critically ill patient develops within two settings: primary neurological diseases that require admission in the Intensive Care Medicine Unit for close monitoring or mechanical ventilation, and peripheral nervous system manifestations secondary to critical systemic diseases. The most frequent conditions in the first group are Guillain-Barré syndrome and Myasthenia Gravis, and in the second group, polyneuropathy and myopathy of the critically ill patient. The most commonly shared clinical pattern is the development of severe weakness and quadriplegia which most typical manifestation is the need for assisted ventilation and/or weaning difficulty/impossibility. Triggering factors considered are multiorgan failure and sepsis in polyneuropathy, and steroids and neuromuscular blockers in myopathy, with malnutrition, particularly hypoalbuminemia, and hyperglycemia being co-adjuvant in both conditions.Considering that neuropathic and myopathic conditions may frequently coexist, the term polyneuromyopathy of the critically ill patient has been coined. Both Guillain-Barré syndrome and polyneuropathy of the critically ill patient involve peripheral nerves, so that the differential diagnosis has to be made between both.The presenting picture is different, since the former is an acute pathology that motivates ICU admission, whereas the latter is a polyneuropathy acquired during hospitalization. In the former, involvement of the autonomous nervous system and CSF albumin-cytology dissociation are common, which do not occur in polyneuropathy. Electrophysiological studies show demyelinating signs with decreased conduction velocity and normal amplitude of motor potentials in Guillain-Barré syndrome versus normal conduction velocity and reduced amplitude of motor potentials in axonal polyneuropathy. Myasthenic crisis affects the neuromuscular junction and its diagnosis tends to be easier since in most of the cases a previous diagnosis of myasthenia gravis exists.Muscle weakness increases during repeated activity (muscle fatigue) and improves on resting. Diagnostic confirmation is done by means of edrophonium test and by repeated nerve stimulation, which leads to a rapid decrease by 10-15% of the amplitude of evoked responses. Myopathy of the critically ill patient involves the muscle and provokes a generalized weakness with quadriplegia, very similar to that from polyneuropathy, which prevents or delays weaning from mechanical ventilation, and which may lead to CPK and myoglobin increase in more advanced stages, together with changes in neurophysiological examination. The findings of neurophysiological examination are difficult to differentiate from those encountered in polyneuropathy, although normal sensitive action potentials and reduction of motor action potentials with direct muscle stimulation may help in the differentiation. The functional prognosis of primary muscle impairments tends to be quite good, but both polyneuropathy and myopathy resolve very slowly along weeks or months, with the possibility of an important residual deficit within two years in the most severe cases.