Nodular muscular sarcoidosis: MRI manifestation and pathological features / 中华内分泌外科杂志

Objective To analyze the MR imaging performances and pathological characteristics of nodular muscular sarcoidosis,and to improve the diagnostic accuracy.Methods Six cases with pathologically confirmed nodular muscular sarcoidosis were included,the MRI imaging findings and pathologic appearance were analyzed,and the literature was reviewed.Results Six patients underwent plain and enhanced MRI examination with 3 cases of unilateral gastrocnemius muscle single lesion,1 case of unilateral anterior medial thigh muscle lesions,and 2 cases of bilateral gastrocnemius muscle lesions.MRI plain scan showed a strip-shaped or fusiform with slightly short TI-long T2 signal along the muscle fibers,and the occupancy effect was not obvious."Dark star" sign showed in lesion center with axial T2WI and enhanced T1WI,and "three stripes" sign could be seen along the long axis view image lesions.The lesion obviously enhanced after enhancement,with mild enhancement center.Similar small nodular satellite lesions were seen around 5 large lesions,and 4 cases showed similar small nodule enhancement in distant muscle groups.Pathological manifestations:granulomatous inflammation of muscle fibers,intermuscular epithelial cells,and multinucleated tissue cells with or without lymphocytic infiltration;no cheese-like necrosis in the nodules,visible fusion of nodules.Conclusion On MRI,it is characterized by strips or fusiform lesions along the muscle fibers,visible "three-layer stripe sign" and "black star sign",and the characteristics of the enhanced muscle nodules in the surrounding muscle groups,which contributes to the diagnosis and differential diagnosis of muscular sarcoidosis.

Carcinoma escamocelular de labio superior en paciente con síndrome nevoide basocelular. Reporte de caso clínico / Upper-Lip Squamous Cell Carcinoma in Patients with Nevoid Basal Cell Carcinoma Syndrome. A Clinical Case Report

Antecedentes: El síndrome de Gorlin-Goltz, o síndrome nevoide de células básales (SNCB), es un trastorno autosómico dominante de baja incidencia. Su etiología se relaciona con una mutación en el gen PTCH y afecta los sistemas esquelético, oftalmológico y neurológico. Su prevalencia es de 1:60.000 y las mutaciones de novo se presentan aproximadamente en un 20 % a 30 % de los casos. Objetivo: Describir el proceso diagnóstico y manejo de un caso de esporádica presentación de una paciente con SNCB con carcinoma escamocelular (CEC) en labio superior. Descripción del caso: Se trató de una mujer de 58 años, quien asistió a consulta odontológica por motivos estéticos y funcionales. Se encontró un CEC (confirmado por inmunohistoquímica) asintomático delimitado en el lado izquierdo del labio superior, con erosiones de color rojizo y costra. No se encontraron linfoadenopatías asociadas. También evidenció fisuras palmoplantares y múltiples carcinomas basocelulares en la espalda y el dorso de la mano izquierda (con antecedentes familiares similares). Radiográficamente, no se observaron queratoquistes mandibulares que usualmente se asocian con el síndrome de Gorlin-Goltz. Conclusiones: Se diagnosticó SNCB en la paciente, pues presentaba dos criterios mayores (dos o más CBC y piqueteado palmoplantar) y dos menores (calcificación laminar de la hoz del cerebro y antecedente de fibromas ováricos). El tratamiento odontológico se planeó y se remitió a la paciente a la institución pertinente para manejar su condición sistémica.

Background: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with low incidence. The etiology' is associated with a PTCH gene mutation and affects the skeletal, ophthalmic and neurological systems. The prevalence is 1:60,000 and de novo mutations occur approximately in 20% to 30% of the cases. Objective: To describe the diagnosis and management process for a rare case of a NBCCS patient who developed squamous cell carcinoma (SCC) in the upper lip. Case Description: The patient is a 58 year-old woman who attended to the dental office for aesthetic and functional reasons. An asymptomatic SCC was found (confirmed after immunohistochemical evidence) with defined limits to the left of the upper lip. It showed reddish erosions and some scab. No associated lymphadenopathies were found. The patient had some plantar foot fissures and multiple carcinoma basal cells in the back and in the left hand dorsum (with similar family previous cases). No maxillary keratocyst were observed in the radiographs, notwithstanding they are always associated with the Gorlin-Goltz syndrome. Conclusions: The patient was diagnosed with NBCCS based on two main criteria (two or more SCC lesions and plantar foot fissures) and two mild criteria (laminar calcification in the cerebral falx and family background of ovarian fibromas). A dental treatment was designed, and the patient was referred to another institution for a systemic treatment of her disease.

Analysis of clinical and genetic results in one case of very long chain acyl-CoA dehydrogenase deficiency / 中华内分泌代谢杂志

Clinical characteristics were analyzed in a child with very long chain acyl-CoA dehydrogenase deficiency( VLCADD) . The gene analysis was performed in 20 exon all coding regions and 10 bp shear zone in the very long chain acyl-CoA dehydrogenase( VLCAD) gene of the case and his family members by direct sequencing of PCR-DNA from peripheral blood. The results showed that the patient presented with acute onset, clinical manifestations of repeated vomiting, poor spirit, abnormal liver function, increased myocardial enzyme kinase. At the age of one year old, this child was diagnosed with Reye's syndrome for liver injury. Genetic testing results revealed that E14 c. 1349G>A, p. R450H heterozygous mutation in VLCAD gene was found in this case, his mother, and his younger sister, and E15 c. 1532G>A, p. R511Q heterozygous mutation was found in this case and his father. The pathogenic genes of the case are from his mother and the younger sister is a carrier.

A Survey of Patients with Muscle Disease Who Continue Driving Automobiles / The Japanese Journal of Rehabilitation Medicine

Objective : The purpose of this clinical research was to create an assessment for patients with muscle disease who wish to continue driving by investigating their motor function and driving experience. Methods : Twenty-four patients with muscle disease who visited our hospital from December 2009 to April 2010 were enrolled in our research. For patients who were still driving, physiatrists evaluated their motor functions, examined simulated driving motions and recorded their driving capabilities and techniques, their ability to get into and out of the vehicle and their ability to store and remove their wheelchairs. Patients no longer driving were asked why they had given up driving. Results : Fifteen patients who continued driving had enough upper limb strength and could simulate driving motions, though the location and degree of their muscle weakness were variable. Five of fifteen drove with the aid of a hand-operated brake and accelerator. Seven needed personal assistance: three to get into and out of the vehicles, six to store and remove wheelchairs. The nine patients who had stopped driving reported that the primary reason for discontinuing driving was that they recognized their muscles were insufficient to control the vehicle. Conclusions : We propose to evaluate muscle strength and to test simulated driving motions when assessing patients with muscle disease. A hand-operated brake and accelerator is efficient for patients with lower limb muscle weakness. However, since no efficient automobile modifications are available for those patients who cannot get into and get out of their vehicles or store and remove their wheelchairs by themselves, we suggest arranging personal assistance for such patients.

Aspectos morfológicos de biópsias musculares em equinos com miopatia sob forma de surto / Morphological features of muscle biopsies from horses of a myopathy outbreak

As miopatias em equinos são classificadas de acordo com aspectos clínicos, morfológicos e moleculares, em três grandes grupos: não associadas ao exercício, associadas ao exercício e devido alteração da condução elétrica do sarcolema. Apesar dos avanços no diagnóstico, a literatura ainda relata surtos de miopatia em equinos sem etiologia esclarecida em diversos países. O objetivo desse estudo foi descrever as alterações histológicas e histoquímicas de biópsias musculares de equinos acometidos por miopatia. Sete equinos da raça Quarto de Milha, com 18-24 meses de idade, apresentaram sinais clínicos de miopatia. Dentre esses animais, cinco apresentaram sinais subagudos leves a moderados e dois apresentaram sinais hiperagudos severos e decúbito lateral. Foram realizadas biópsias musculares utilizando a técnica percutânea, por agulha tipo Bergström, no músculo glúteo médio em todos os animais acometidos. As amostras foram processadas por meio de técnicas histológicas (HE, Tricrômio de Gomori modificado) e histoquímicas (PAS, NADH, ATPase). Nos quadros clínicos mais leves, a principal alteração encontrada foi a presença de fibras vermelhas rajadas do tipo I e IIA, que estão associadas às alterações do metabolismo oxidativo e das funções mitocondriais, como ocorrem nas miopatias mitocondriais. Também foram observadas fibras atróficas do tipo I e IIA, além da presença de agregados subsarcolemais. Nos quadros mais severos o tecido muscular apresentou infiltrado inflamatório, aumento de colágeno, fagocitose, necrose, calcificação e regeneração muscular. Diante dos achados morfológicos, da resposta à terapia com vitamina E e Se e da baixa mortalidade quando comparado aos relatos de miopatia atípica, conclui-se que esse surto foi desencadeado por lesões mitocondriais, caracterizadas pelas fibras musculares vermelhas rajadas, possivelmente devido uma quebra da homeostase de vitamina E e Se, sendo compatível com o diagnóstico de miopatia nutricional.

Equine myopathies are classified according clinic, morphologic and molecular features in three groups: Non-exertional, exertional, and abnormal muscle membrane conduction. In spite the advances in diagnostic, the literature has reported outbreaks of equine myopathy without clear etiology in several countries. The aim of this study was to describe the histological and histochemical findings of muscle biopsies in an outbreak of equine myopathy. Seven 18 to 24-month-old Quarter horses showed clinical signs of myopathy. Five horses presented mild clinical signs and two horses had severe clinical signs with recumbency. Muscle biopsies were obtained from gluteal medium muscle by percutaneous technique with Bergstrom needle in all affected horses. Muscle samples were processed by histological (HE, modified gomori-trichrome) and histochemical (PAS, NADH, ATPase) technics. In animals with mild clinical signs, ragged red fibers type I and IIA, related to the oxidative metabolism dysfunction of mitochondria, was the main abnormality found. Muscle fiber atrophy and presence of subsarcolemmal aggregates in type I and IIA muscle fibers were also observed. More severe affected horses presented inflammatory infiltrate, proliferation of collagen, phagocytosis, necrosis and calcification. Based on the morphological findings, vitamin E therapy response associated with the low mortality when compared with atypical myopathy reports, We concluded that this outbreak was triggering for mitochondrial lesions, characterized by ragged red muscle fibers, probably due a breakdown homeostasis in vitamin E and Se, being compatible with nutritional myopathy diagnosis.

Function of P2 receptors in skeletal muscle and their roles in the diseases / 中国药理学通报

P2 receptors activated by purine and pyrimidine nucleotides are divided into two subclasses:P2Y receptors which are G-protein coupled and P2X receptors which are ligand-gated ion channels.The expression of specific P2X and P2Y receptor subtypes in skeletal muscle cells has been demonstrated.Purinergic signaling plays an important role in muscle regeneration of muscular dystrophy,and is involved in skeletal muscle diseases such as muscular dystrophy,tendon inflammation and epilepsy,and provides the possibility of new therapeutic strategies for the treatment of muscle diseases.

Graves' disease detected by myalgia / 대한내과학회지

Graves' disease is commonly associated with a variety of muscle abnormalities from muscle weakness, paralysis to exophthalmopathy. There are several reports of Graves disease associated with polymyositis and myasthenia gravis. It is generally uncommon that muscle enzyme is increased in patients with hyperthyroidsm without polymyositis. We report thyrotoxic myopathy presented as myalgia without muscle weakness but with increased muscle enzyme, which was improved by anti-thyroid drug. A 33 year-old man developed severe proximal myalgia and headache. The creatinine kinase level was elevated. But there was no specific finding in electromyography. Muscle biopsy showed increased number of mitochondria and decreased glycogen content. There was no inflammatory cell infiltration. Diagnosis of hyperthyroidism due to Graves' disease was made, followed by the treatment with prothiouracil 300 mg per day. Five day after the treatment, myalgia improved, and serum CPK was decreased. He never complain myalgia after thyroid function was normalized.