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1.
Trop Anim Health Prod ; 52(6): 3555-3565, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32946021

RESUMEN

INTRODUCTION: The emergence of myopathies such as wooden breast in the poultry industry generally associated with the fast development of the breast muscle of broilers has provided changes in the morphological structure of muscle tissues, as well as problems of meat qualitative attributes. The aim of this study was to evaluate physical, chemical, qualitative, and sensorial attributes of broiler fillets associated with severity levels of wooden breast (WB) myopathy in a poultry slaughterhouse. MATERIALS AND METHODS: Three hundred fillets in a poultry slaughterhouse were classified into three severity levels: normal (100 samples), moderate (100 samples), and severe (100 samples). RESULTS: After identification, classification, and description of changes, fillets with a severe WB level presented higher levels of red (a*), yellow (b*), and final pH. The lowest shear force and the highest myofibrillar fragmentation index were observed in fillets with a severe level when compared with normal fillets. The collagen content increased according to severity level. Tasters better evidenced the characteristic taste of chicken meat when tasting fillets with a severe WB level when compared with normal and moderate fillets. The succulence and preference of the Brazilian testers increased according to the severity level of the myopathy. CONCLUSION: In general, fillets with moderate and severe WB myopathy were affected not only in appearance but also in qualitative, physical, chemical, and sensory characteristics.


Asunto(s)
Pollos , Comportamiento del Consumidor/estadística & datos numéricos , Carne/análisis , Enfermedades Musculares/veterinaria , Músculos Pectorales/patología , Enfermedades de las Aves de Corral/patología , Animales , Masculino , Enfermedades Musculares/clasificación , Enfermedades Musculares/patología , Enfermedades de las Aves de Corral/clasificación
2.
Dtsch Med Wochenschr ; 145(13): 887-894, 2020 07.
Artículo en Alemán | MEDLINE | ID: mdl-32615603

RESUMEN

Muscle pain as a common symptom in daily practice frequently occurs as a non-specific accompanying symptom in multiple internal and neurological diseases. Primarily inflammatory or autoimmune muscular diseases are causing muscle pain. However, a number of non-inflammatory causes of pain can also be considered for differential diagnosis. These are presented in this article. In principle, a distinction must be made between focal and diffuse muscle pain. As an invasive diagnostic procedure, a muscle biopsy should only be performed as the last step in the diagnostic alogorithm. If diffuse muscle pain is only associated with slight muscle weakness or is completely absent, there is usually a primary rheumatic cause. Statins (HMG-CoA reductase inhibitors) can lead to rhabdomyolysis, muscle fiber atrophy and muscle necrosis by damaging the muscle fiber membrane. Myotonias are autosomal dominant or autosomal recessive inherited disorders of muscle function. The genetic defect leads to pronounced muscle stiffness. The cause of metabolic myopathies can be disorders of the carbohydrate, fat or purine metabolism. Fibromyalgia syndrome (FMS) is a non-inflammatory disease and, according to the current knowledge, recognized as the result of an exposure to physical, biological and psychosocial factors (biopsychological disease model). To help diagnosing FMS, pain regions and core symptoms (fatigue, sleep disturbances) can be detected using questionnaires (Widespread Pain Index [WPI] and Symptom Severity Scale [SSS]).


Asunto(s)
Mialgia/etiología , Contractura/clasificación , Contractura/diagnóstico , Contractura/etiología , Diagnóstico Diferencial , Fibromialgia/clasificación , Fibromialgia/diagnóstico , Fibromialgia/etiología , Humanos , Masculino , Persona de Mediana Edad , Calambre Muscular/clasificación , Calambre Muscular/diagnóstico , Calambre Muscular/etiología , Debilidad Muscular/clasificación , Debilidad Muscular/diagnóstico , Debilidad Muscular/etiología , Enfermedades Musculares/clasificación , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/etiología , Mialgia/clasificación , Mialgia/diagnóstico , Miotonía/clasificación , Miotonía/diagnóstico , Miotonía/etiología , Factores de Riesgo , Espasmo/clasificación , Espasmo/diagnóstico , Espasmo/etiología
3.
J Neuromuscul Dis ; 7(2): 153-166, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32039858

RESUMEN

BACKGROUND: Extensive genetic screening results in the identification of thousands of rare variants that are difficult to interpret. Because of its sheer size, rare variants in the titin gene (TTN) are detected frequently in any individual. Unambiguous interpretation of molecular findings is almost impossible in many patients with myopathies or cardiomyopathies. OBJECTIVE: To refine the current classification framework for TTN-associated skeletal muscle disorders and standardize the interpretation of TTN variants. METHODS: We used the guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) to re-analyze TTN genetic findings from our patient cohort. RESULTS: We identified in the classification guidelines three rules that are not applicable to titin-related skeletal muscle disorders; six rules that require disease-/gene-specific adjustments and four rules requiring quantitative thresholds for a proper use. In three cases, the rule strength need to be modified. CONCLUSIONS: We suggest adjustments are made to the guidelines. We provide frequency thresholds to facilitate filtering of candidate causative variants and guidance for the use and interpretation of functional data and co-segregation evidence. We expect that the variant classification framework for TTN-related skeletal muscle disorders will be further improved along with a better understanding of these diseases.


Asunto(s)
Cardiomiopatías , Conectina/genética , Enfermedades Musculares , Guías de Práctica Clínica como Asunto/normas , Cardiomiopatías/clasificación , Cardiomiopatías/congénito , Cardiomiopatías/genética , Humanos , Enfermedades Musculares/clasificación , Enfermedades Musculares/congénito , Enfermedades Musculares/genética
4.
Nucl Med Commun ; 40(4): 377-382, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30664602

RESUMEN

BACKGROUND: To compare the performance of fluorine-18-fluorodeoxyglucose (F-FDG) PET/computed tomography (CT) and conventional tests for cancer screening in autoimmune inflammatory myopathy (AIM) patients. PATIENTS AND METHODS: We carried out a retrospective cohort study of AIM patients from one academic center in Montreal, Canada, classified using myositis-specific antibodies, who underwent F-FDG PET/CT between April 2005 and February 2018 and were followed up on average 3.5±2.4 years. Patients were excluded if follow-up was insufficient, AIM diagnosis was indeterminate, and/or malignancy was diagnosed before an F-FDG PET/CT scan. Demographic/clinical data, F-FDG PET/CT results, and available conventional screening tests results were retrieved from electronic and paper medical records. RESULTS: 100 F-FDG PET/CT studies in 63 unique patients [31/63 dermatomyositis (DM), 25/63 overlap myositis, 1/63 inclusion body myositis, 1/63 polymyositis, 1/63 orbital myositis and 4/63 unspecified myositis] were evaluated. Three patients, all classified as DM, were diagnosed with cancer during follow-up with conventional cancer screening tests: breast cancer detected by mammography; squamous cell carcinoma of the skin detected by physical examination; and multiple myeloma detected by blood work. F-FDG PET/CT did not detect any malignancy and led to more additional biopsies than conventional screening (8 vs. 5). CONCLUSION: F-FDG PET/CT does not appear to be useful in cancer screening for AIM patients compared with conventional screening and carries potential harms associated with follow-up investigations. The risk of cancer in AIM differs by myositis-specific antibodies-defined subsets and cancer screening is likely to be indicated only in high-risk patients, particularly DM. These results, replicated in larger, multicentered studies, may carry significant consequences for optimal management of AIM and health resource utilization.


Asunto(s)
Enfermedades Autoinmunes/complicaciones , Fluorodesoxiglucosa F18 , Tamizaje Masivo/métodos , Enfermedades Musculares/complicaciones , Neoplasias/complicaciones , Neoplasias/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Anciano , Enfermedades Autoinmunes/clasificación , Estudios de Cohortes , Detección Precoz del Cáncer , Femenino , Humanos , Inflamación/complicaciones , Masculino , Persona de Mediana Edad , Enfermedades Musculares/clasificación , Estudios Retrospectivos
7.
Am Fam Physician ; 97(8): 510-516, 2018 04 15.
Artículo en Inglés | MEDLINE | ID: mdl-29671490

RESUMEN

Running is a common form of exercise but predisposes athletes to several running-related injuries. Most running injuries are due to overuse and respond to conservative treatment. Tendinopathies in the patellar, Achilles, and hamstring tendons are common, and are primarily treated with eccentric exercise. Iliotibial band syndrome and patellofemoral pain syndrome are less common than patellar tendinopathy and are treated by strengthening exercises for the core and legs in addition to flexibility exercises. Acute hamstring strains and medial tibial stress syndrome require a period of relative rest, followed by stretching and graded return to activity. Tibial stress fractures require an extended period of relative rest, followed by a more gradual return to activity. Early mobilization improves recovery from ankle sprains, and exercise therapy and functional bracing while running for six to 12 months prevents reinjury. Plantar fasciopathy (plantar fasciitis) can be significantly improved with stretching, heel raises, and orthoses that provide arch support.


Asunto(s)
Traumatismos en Atletas , Terapia por Ejercicio/métodos , Enfermedades Musculares , Manejo de Atención al Paciente/métodos , Carrera , Tendinopatía , Traumatismos en Atletas/epidemiología , Traumatismos en Atletas/terapia , Trastornos de Traumas Acumulados/epidemiología , Trastornos de Traumas Acumulados/terapia , Humanos , Enfermedades Musculares/clasificación , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/etiología , Enfermedades Musculares/terapia , Aparatos Ortopédicos , Prevalencia , Evaluación de Síntomas/métodos , Tendinopatía/clasificación , Tendinopatía/diagnóstico , Tendinopatía/etiología , Tendinopatía/terapia , Resultado del Tratamiento
9.
J Neurol Sci ; 384: 50-54, 2018 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-29249377

RESUMEN

The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders. Based on our observations and our recent proposals in other neurogenetic conditions and informal discussions with specialists of neuromuscular disorders, the prerequisite for a simple and sound classification for inherited muscular disorders should encompass the clinical and pathological phenotypes (described in a simple and clear manner), the mode of inheritance, and the mutated gene. We think that the denomination of the different subtypes could be simplified considerably, although any new proposal of classification of muscular disorders will need to be discussed in the neurological and genetic communities.


Asunto(s)
Enfermedades Musculares/clasificación , Historia del Siglo XIX , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Enfermedades Musculares/genética , Enfermedades Musculares/historia , Enfermedades Musculares/fisiopatología
11.
Sports Med ; 47(7): 1241-1253, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27878524

RESUMEN

Muscle injuries are among the most common injuries in sport and continue to be a major concern because of training and competition time loss, challenging decision making regarding treatment and return to sport, and a relatively high recurrence rate. An adequate classification of muscle injury is essential for a full understanding of the injury and to optimize its management and return-to-play process. The ongoing failure to establish a classification system with broad acceptance has resulted from factors such as limited clinical applicability, and the inclusion of subjective findings and ambiguous terminology. The purpose of this article was to describe a classification system for muscle injuries with easy clinical application, adequate grouping of injuries with similar functional impairment, and potential prognostic value. This evidence-informed and expert consensus-based classification system for muscle injuries is based on a four-letter initialism system: MLG-R, respectively referring to the mechanism of injury (M), location of injury (L), grading of severity (G), and number of muscle re-injuries (R). The goal of the classification is to enhance communication between healthcare and sports-related professionals and facilitate rehabilitation and return-to-play decision making.


Asunto(s)
Traumatismos en Atletas/clasificación , Enfermedades Musculares/clasificación , Deportes , Traumatismos en Atletas/diagnóstico , Consenso , Músculos Isquiosurales/lesiones , Humanos , Enfermedades Musculares/diagnóstico , Pronóstico , Recuperación de la Función , Terminología como Asunto
12.
Continuum (Minneap Minn) ; 22(6, Muscle and Neuromuscular Junction Disorders): e27-e39, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27922506

RESUMEN

Accurate coding is critically important for clinical practice and research. Ongoing changes to diagnostic and billing codes require the clinician to stay abreast of coding updates. Payment for health care services, data sets for health services research, and reporting for medical quality improvement all require accurate administrative coding. This article provides an overview of administrative coding for patients with muscle disease and includes a case-based review of diagnostic and Evaluation and Management (E/M) coding principles in patients with myopathy. Procedural coding for electrodiagnostic studies and neuromuscular ultrasound is also reviewed.


Asunto(s)
Codificación Clínica/métodos , Clasificación Internacional de Enfermedades , Debilidad Muscular/clasificación , Debilidad Muscular/diagnóstico , Anciano , Electromiografía/métodos , Humanos , Masculino , Debilidad Muscular/fisiopatología , Enfermedades Musculares/clasificación , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/fisiopatología
13.
Vet J ; 214: 109-16, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27387736

RESUMEN

This review focuses on important new findings in the field of involuntary movements (IM) in dogs and illustrates the importance of developing a clear classification tool for diagnosing tremor and twitches. Developments over the last decade have changed our understanding of IM and highlight several caveats in the current tremor classification. Given the ambiguous association between tremor phenomenology and tremor aetiology, a more cautious definition of tremors based on clinical assessment is required. An algorithm for the characterisation of tremors is presented herein. The classification of tremors is based on the distinction between tremors that occur at rest and tremors that are action-related; tremors associated with action are divided into postural or kinetic. Controversial issues are outlined and thus reflect the open questions that are yet to be answered from an evidence base of peer-reviewed published literature. Peripheral nerve hyper-excitability (PNH; cramps and twitches) may manifest as fasciculations, myokymia, neuromyotonia, cramps, tetany and tetanus. It is anticipated that as we learn more about the aetiology and pathogenesis of IMs, future revisions to the classification will be needed. It is therefore the intent of this work to stimulate discussions and thus contribute to the development of IM research.


Asunto(s)
Enfermedades de los Perros/etiología , Discinesias/veterinaria , Enfermedades Musculares/veterinaria , Animales , Enfermedades de los Perros/clasificación , Perros , Discinesias/clasificación , Discinesias/etiología , Enfermedades Musculares/clasificación , Enfermedades Musculares/etiología , Nervios Periféricos/fisiopatología , Terminología como Asunto , Temblor/clasificación , Temblor/etiología , Temblor/veterinaria
14.
J Neurol ; 263(7): 1296-302, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27142711

RESUMEN

To investigate the performance of a biexponential signal decay model using DWI in myopathies and to differentiate Polymyositis (PM)/Dermatomyositis (DM), Glycogen Storage Diseases (GSDs) and Muscular Dystrophies (MDs) utilizing diffusion-weighted imaging. 11 healthy volunteers (control group) and 46 patients with myopathy were enrolled in the retrospective study. 27 of 46 patients had PM/DM, 7 patients GSDs and 12 patients MDs. After conventional MR sequences, diffusion weighted imaging with a b-factor ranging from 0 to 1200 s/mm(2) was performed on both thighs. The intra-muscular signal-to-noise ratios (SNRs) on multiple-b DWI images were measured for 7 different muscles and compared among the different groups. The median T2 signal intensity and biexponential apparent diffusion coefficients (ADC), including standard ADC, fast ADC, and slow ADC values, were compared among the different groups. The intra-muscular SNRs were statistically significantly different depending on the b value, and also found among the 4 groups (p < 0.05). The median T2 signal intensity of the normal muscles in control group was statistically significantly lower than that of edematous muscles in the PM/DM, GSDs and MDs groups (p = 0.000), while there were no statistically significant differences among the PM/DM, GSDs, and MDs groups (p > 0.05). The median standard ADC value of the edematous muscles in GSDs was statistically significantly lower than that of normal muscles in the control group (p = 0.000) and the median ADC value of the edematous muscles in PM/DM patients was statistically significantly greater than that of the GSDs (p = 0.000) and MDs groups (p = 0.005). The median slow ADC value of the edematous muscles in MDs patients and PM/DM patients was statistically significantly greater than that of GSDs patients (p < 0.05). Intra-muscular SNR decay curves and biexponential ADC parameters are useful in distinguishing among PM/DM, GSDs, and MDs.


Asunto(s)
Imagen de Difusión por Resonancia Magnética , Músculo Esquelético/diagnóstico por imagen , Enfermedades Musculares/diagnóstico , Adulto , Anciano , Femenino , Humanos , Interpretación de Imagen Asistida por Computador , Masculino , Persona de Mediana Edad , Enfermedades Musculares/clasificación , Estudios Retrospectivos , Relación Señal-Ruido , Adulto Joven
15.
Brain ; 139(Pt 1): 13-22, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26667281

RESUMEN

Classically, myopathies are categorized according to limb or cranial nerve muscle affection, but with the growing use of magnetic resonance imaging it has become evident that many well-known myopathies have significant involvement of the axial musculature. New disease entities with selective axial muscle involvement have also been described recently, but overall the axial myopathy is unexplored. We performed a PubMed search using the search terms 'myopathy', 'paraspinal', 'axial' and 'erector'. Axial myopathy was defined as involvement of paraspinal musculature. We found evidence of axial musculature involvement in the majority of myopathies in which paraspinal musculature was examined. Even in diseases named after a certain pattern of non-axial muscle affection, such as facioscapulohumeral and limb girdle muscular dystrophies, affection of the axial musculature was often severe and early, compared to other muscle groups. Very sparse literature evaluating the validity of clinical assessment methods, electromyography, muscle biopsy and magnetic resonance imaging was identified and reference material is generally missing. This article provides an overview of the present knowledge on axial myopathy with the aim to increase awareness and spur interest among clinicians and researchers in the field.


Asunto(s)
Músculo Esquelético/patología , Enfermedades Musculares/clasificación , Enfermedades Musculares/patología , Músculos Paraespinales/patología , Humanos
16.
Semin Neurol ; 35(4): 360-8, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26502760

RESUMEN

Myotonic dystrophies and channelopathies are rare but important causes of muscle diseases which may present with myotonia, episodic attacks of weakness, fixed muscle weakness, and atrophy or their combination. Here, the authors provide an overview of these disorders and describe their clinical and pathophysiological features, diagnostic methods, and management.


Asunto(s)
Canalopatías , Enfermedades Musculares , Canalopatías/clasificación , Canalopatías/fisiopatología , Canalopatías/terapia , Humanos , Enfermedades Musculares/clasificación , Enfermedades Musculares/fisiopatología , Enfermedades Musculares/terapia
17.
Clin Radiol ; 70(12): 1414-20, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26385202

RESUMEN

AIM: To implement and validate the newly proposed British athletics muscle injury classification in the assessment of hamstring injuries in track and field athletes and to analyse the nature and frequency of the discrepancies. MATERIALS AND METHODS: This was a retrospective study analysing hamstring injuries in elite British athletes using the proposed classification system. Classification of 65 hamstring injuries in 45 high-level athletes by two radiologists at two time points 4 months apart to determine interrater variability, intrarater variability, and feasibility of the classification system was undertaken. RESULTS: Interrater Kappa values of 0.80 (95% confidence interval [CI]: 0.67-0.92; p<0.0001) for Round 1 and 0.88 (95% CI: 0.76-1.00; p<0.0001) for Round 2 of the review were observed. Percentages of agreement were 85% for Round 1 and 91% for Round 2. The intrarater Kappa value for the two reviewers were 0.76 (95% CI: 0.63-0.88; p<0.0001) and 0.65 (95% CI: 0.53-0.76; p<0.0001) and the average was 0.71 suggesting substantial overall agreement. The percentages of agreement were 82% and 72%, respectively. CONCLUSIONS: This classification system is straightforward to use and produces both reproducible and consistent results based on interrater and intrarater Kappa values with at least substantial agreement in all groups. Further work is ongoing to investigate whether individual grades within this classification system provide prognostic information and could guide clinical management.


Asunto(s)
Traumatismos en Atletas/clasificación , Traumatismos en Atletas/diagnóstico , Imagen por Resonancia Magnética , Músculo Esquelético/lesiones , Enfermedades Musculares/clasificación , Enfermedades Musculares/diagnóstico , Traumatismos en Atletas/patología , Estudios de Factibilidad , Humanos , Músculo Esquelético/patología , Enfermedades Musculares/patología , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , Estudios Retrospectivos , Deportes/estadística & datos numéricos , Atletismo/estadística & datos numéricos , Reino Unido
18.
Med Tr Prom Ekol ; (11): 6-9, 2015.
Artículo en Ruso | MEDLINE | ID: mdl-26859973

RESUMEN

Based on comparative analysis of contemporary clinical and instrumental investigations, the authors justify advantage of ultrasound examination in diagnosis of occupational myofibrosis. Results of ultrasound application helped to specify a classification of occupational myofibrosis according to the disease severity, that considerably increases efficiency of examining connection between the disease and occupation.


Asunto(s)
Músculo Esquelético/diagnóstico por imagen , Enfermedades Musculares/clasificación , Enfermedades Musculares/diagnóstico por imagen , Enfermedades Profesionales/clasificación , Enfermedades Profesionales/diagnóstico por imagen , Fibrosis/clasificación , Fibrosis/diagnóstico por imagen , Humanos , Ultrasonografía
20.
Hum Mutat ; 35(12): 1418-26, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25205138

RESUMEN

A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in NEB are the major cause of nemaline myopathy (NM), one of the most common congenital myopathies. Moreover, pathogenic NEB variants have been identified in core-rod myopathy and in distal myopathies. In this update, we present the disease-causing variants in NEB in 159 families, 143 families with NM, and 16 families with NM-related myopathies. Eighty-eight families are presented here for the first time. We summarize 86 previously published and 126 unpublished variants identified in NEB. Furthermore, we have analyzed the NEB variants deposited in the Exome Variant Server (http://evs.gs.washington.edu/EVS/), identifying that pathogenic variants are a minor fraction of all coding variants (∼7%). This indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders. Lastly, we discuss the difficulties of drawing reliable genotype-phenotype correlations in NEB-associated disease.


Asunto(s)
Proteínas Musculares/genética , Enfermedades Musculares/genética , Mutación , Empalme Alternativo , Animales , Cromosomas Humanos Par 2 , Bases de Datos Genéticas , Exones , Genotipo , Humanos , Modelos Animales , Enfermedades Musculares/clasificación , Fenotipo
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