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Phrenic nerve conduction studies (NCSs) and needle electromyography (EMG) can provide important information on the underlying pathophysiology in patients presenting with unexplained shortness of breath, failure to wean from the ventilator, or consideration of phrenic nerve pacemaker implantation. However, these techniques are often technically challenging, require experience, can lack sensitivity and specificity, and, in the case of diaphragm EMG, involve some degree of risk. Diagnostic high-resolution ultrasound has been introduced in recent years as an adjuvant technique readily available at the bedside that can increase the overall sensitivity and specificity of the neurophysiologic evaluation of respiratory symptoms. Two-dimensional ultrasound in the zone of apposition can identify atrophy and evaluate contractility of the diaphragm, in addition to localizing a safe zone for needle EMG. M-mode ultrasound can identify decreased excursion or paradoxical motion of the diaphragm and can increase the reliability of phrenic NCSs. When used in combination, ultrasound, phrenic NCSs and EMG of the diaphragm can differentiate neuropathic, myopathic, and central disorders, and can offer aid in prognosis that is difficult to arrive at solely from clinical examination. This article will review techniques to successfully perform phrenic NCSs, needle EMG of the diaphragm, and ultrasound of the diaphragm. The discussion will include technical pitfalls and clinical pearls as well as future directions and clinical indications.
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Dispneia , Doenças do Sistema Nervoso Periférico , Humanos , Reprodutibilidade dos Testes , Eletromiografia/métodos , Diafragma/inervação , Nervo Frênico/diagnóstico por imagemRESUMO
INTRODUCTION/AIMS: Point-of-care ultrasound of the diaphragm is highly sensitive and specific in the detection of neuromuscular diaphragmatic dysfunction. In some patients with neuromuscular diaphragmatic dysfunction, paradoxical thinning of the diaphragm during inspiration is observed on ultrasound; however, its frequency, electrodiagnostic associations, and prognostic significance remain uncertain. METHODS: Medical records of patients presenting to two electrodiagnostic laboratories (Mayo Clinic, Rochester, Minnesota and University of Alberta, Edmonton, Alberta) from January 1, 2022 to December 31, 2022, for evaluation of suspected neuromuscular respiratory failure, were reviewed. RESULTS: 214 patients were referred and 19 patients excluded due to incomplete information. Of 195 patients (384 hemidiaphragms), 104 had phrenic neuropathy, 12 had myopathy, and 79 had no evidence of neuromuscular disease affecting the diaphragm. Paradoxical thinning occurred in 31 (27%) patients with neuromuscular diaphragmatic dysfunction and was unilateral in 30, the majority (83%) having normal contralateral ultrasound. Phrenic nerve conduction studies and diaphragm electromyography results did not distinguish patients with paradoxical thinning versus without. Most patients (71%) with paradoxical thinning required non-invasive ventilation (NIV), including 16 with unilateral paradoxical thinning. Paradoxical thinning and BMI ≥30 kg/m2 were risk factors for requiring NIV in multivariable logistic regression analysis, with odds ratios of 2.887 (95% CI:1.166, 7.151) and 2.561 (95% CI: 1.186, 5.532), respectively. DISCUSSION: Paradoxical thinning of the diaphragm occurs in patients with prominent neuromuscular diaphragmatic dysfunction, most commonly from phrenic neuropathy, and is a significant risk factor for requiring NIV. Unilateral paradoxical thinning is sufficient for needing NIV. BMI ≥30 kg/m2 additionally increases risk of requiring NIV in patients with neuromuscular diaphragmatic dysfunction.
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Diafragma , Ventilação não Invasiva , Ultrassonografia , Humanos , Diafragma/diagnóstico por imagem , Diafragma/fisiopatologia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Fatores de Risco , Ventilação não Invasiva/métodos , Adulto , Doenças Neuromusculares/diagnóstico por imagem , Doenças Neuromusculares/fisiopatologia , Estudos Retrospectivos , Nervo Frênico/diagnóstico por imagem , Eletromiografia , Insuficiência Respiratória/diagnóstico por imagem , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapia , Idoso de 80 Anos ou maisRESUMO
Neuralgic amyotrophy (NA), also referred to as idiopathic brachial plexitis and Parsonage-Turner syndrome, is a peripheral nerve disorder characterized by acute severe shoulder pain followed by progressive upper limb weakness and muscle atrophy. While NA is incompletely understood and often difficult to diagnose, early recognition may prevent unnecessary tests and interventions and, in some situations, allow for prompt treatment, which can potentially minimize adverse long-term sequalae. High-resolution ultrasound (HRUS) has become a valuable tool in the diagnosis and evaluation of NA. Pathologic HRUS findings can be grouped into four categories: nerve swelling, swelling with incomplete constriction, swelling with complete constriction, and fascicular entwinement, which may represent a continuum of pathologic processes. Certain ultrasound findings may help predict the likelihood of spontaneous recovery with conservative management versus the need for surgical intervention. We recommend relying heavily on history and physical examination to determine which nerves are clinically affected and should therefore be assessed by HRUS. The nerves most frequently affected by NA are the suprascapular, long thoracic, median and anterior interosseous nerve (AIN) branch, radial and posterior interosseous nerve (PIN) branch, axillary, spinal accessory, and musculocutaneous. When distal upper limb nerves are affected (AIN, PIN, superficial radial nerve), the lesion is almost always located in their respective fascicles within the parent nerve, proximal to its branching point. The purpose of this review is to describe a reproducible, standardized, ultrasonographic approach for evaluating suspected NA, and to share reliable techniques and clinical considerations when imaging commonly affected nerves.
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Neurite do Plexo Braquial , Doenças do Sistema Nervoso Periférico , Humanos , Neurite do Plexo Braquial/diagnóstico por imagem , Neurite do Plexo Braquial/cirurgia , Nervos Periféricos/diagnóstico por imagem , Nervos Periféricos/patologia , Doenças do Sistema Nervoso Periférico/patologia , Nervo Radial/patologia , Constrição Patológica/cirurgia , Dor de OmbroRESUMO
Neuromuscular ultrasound has become an integral part of the diagnostic workup of neuromuscular disorders at many centers. Despite its growing utility, uniform standard scanning techniques do not currently exist. Scanning approaches for similar diseases vary in the literature creating heterogeneity in the studies as reported in several meta-analysis. Moreover, neuromuscular ultrasound experts including the group in this study have different views with regards to technical aspects, scanning protocols, and the parameters that should be assessed. Establishing standardized neuromuscular scanning protocols is essential for the development of the subspeciality to ensure uniform clinical and research practices. Therefore, we aimed to recommend consensus-based standardized scanning techniques and protocols for common neuromuscular disorders using the Delphi approach. A panel of 17 experts participated in the study, which consisted of three consecutive electronic surveys. The first survey included voting on six scanning protocols addressing the general scanning technique and five common categories of suspected neuromuscular disorders. The subsequent surveys focused on refining the protocols and voting on new steps, rephrased statements, or areas of non-agreement. A high degree of consensus was achieved on the general neuromuscular ultrasound scanning technique and the scanning protocols for focal mononeuropathies, brachial plexopathies, polyneuropathies, amyotophic lateral sclerosis, and muscle diseases. In this study, a group of neuromuscular ultrasound experts developed six consensus-based neuromuscular ultrasound scanning protocols that may serve as references for clinicians and researchers. The standardized protocols could also aid in achieving high-quality uniform neuromuscular ultrasound practices.
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Neuropatias do Plexo Braquial , Doença dos Neurônios Motores , Doenças Neuromusculares , Polineuropatias , Humanos , Doenças Neuromusculares/diagnóstico por imagem , Ultrassonografia/métodos , Metanálise como AssuntoRESUMO
INTRODUCTION/AIMS: Carpal and cubital tunnel syndrome (CTS, CuTS) are common among patients with hereditary neuropathy with liability to pressure-palsies (HNPP) and Charcot-Marie-Tooth type 1A (CMT1A) and may impact quality of life. We aimed to evaluate the utility of nerve decompression surgeries in these patients. METHODS: Medical records were reviewed for patients with PMP22 mutations confirmed in Mayo Clinic laboratories from January 1999 to December 2020, who had CTS and CuTS and underwent surgical decompression. RESULTS: CTS occurred in 53.3% of HNPP and 11.5% of CMT1A, while CuTS was present in 43.3% of HNPP and 5.8% of CMT1A patients. CTS decompression occurred in 10-HNPP and 5-CMT1A patients, and CuTS decompression with/without transposition was performed in 5-HNPP and 1-CMT1A patients. In HNPP, electrodiagnostic studies identified median neuropathy at the wrist in 9/10 patients and ultrasound showed focal enlargements at the carpal and cubital tunnels. In CMT1A, median and ulnar sensory responses were all absent, and the nerves were diffusely enlarged. After CTS surgery, pain, sensory loss, and strength improved in 4/5 CMT1A, and 6/10 HNPP patients. Of clinical, electrophysiologic and ultrasound findings, only activity-provoked features significantly correlated with CTS surgical benefit in HNPP patients (odds ratio = 117.0:95% confidence interval, 1.94 > 999.99, p = 0.01). One CMT1A and one HNPP patient improved with CuTS surgery while 2 HNPP patients worsened. DISCUSSION: CTS symptom improvement post-surgery can be seen in CMT1A and (less frequent) in HNPP patients. CuTS surgery commonly worsened course in HNPP. Activity-provoked symptoms in HNPP best informed benefits from CTS surgery.
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Doença de Charcot-Marie-Tooth , Neuropatia Hereditária Motora e Sensorial , Artrogripose , Doença de Charcot-Marie-Tooth/genética , Descompressão , Neuropatia Hereditária Motora e Sensorial/genética , Neuropatia Hereditária Motora e Sensorial/cirurgia , Humanos , Qualidade de VidaRESUMO
BACKGROUND: Exosomes are regenerative mediators for skin rejuvenation. Human platelet extract (HPE) is an allogeneic exosome product derived from US-sourced, leukocyte-reduced apheresed platelets with consistent purity and potency. OBJECTIVES: The authors sought to better characterize the safety and tolerability of novel HPE (plated) Intensive Repair Serum (Rion Aesthetics, Rochester, MN) and its maximal effects on skin rejuvenation at 6 weeks. METHODS: This prospective, single-arm, non-randomized, longitudinal study investigated the safety and efficacy of HPE. Structured sub-analysis evaluated multifactorial improvement in skin health following standardized skin care regimen to determine the maximal effect. Evaluation at baseline and 6 weeks included participant questionnaires and photo documentation with VISIA-CR Generation 5 3D PRIMOS (Canfield Scientific Inc, Fairfield, NJ). RESULTS: VISIA-CR imaging yielded quantifiable and statistically significant improvements in overall skin health (skin health score). A greater score correlated to greater overall skin health, and there was a statistically significant mean delta improvement of 224.2 ± 112.8 (mean ± standard deviation, P ≤ 0.0001) in skin health score at 6 weeks compared with baseline. This correlated to reduction in redness, wrinkles, and melanin production across all cosmetic units (P = 0.005, P = 0.0023, P ≤ 0.0001, respectively) and significant improvements in luminosity and color evenness (P ≤ 0.001). CONCLUSIONS: A topically applied platelet-derived exosome product, HPE, induced normalization to skin health at 4 to 6 weeks with improved various clinical measures of facial photodamage and cutaneous aging. It is safe, well-tolerated, and well-liked by participants.
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Exossomos , Rejuvenescimento , Envelhecimento da Pele , Humanos , Estudos Longitudinais , Estudos Prospectivos , Pele , Resultado do TratamentoRESUMO
OBJECTIVE: Gray scale ultrasound (US) has been demonstrated to be a sensitive and specific tool in the diagnosis of pediatric neuromuscular disease (NMD). With recent advances in genetic testing, the diagnostic work up for NMD has evolved. The purpose of this study was to compare the current diagnostic value of gray scale US to previously defined sensitivities and specificities to determine when this test can add value to a patient's diagnostic workup. METHODS: Standardized quantitative gray scale US imaging was performed on 148 pediatric patients presenting for electrodiagnostic testing to evaluate for NMD. Patients were categorized as having an NMD, a non-NMD, or as "uncertain." The US results were defined as normal, borderline or abnormal based on echointensity values. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of the test were calculated. RESULTS: Forty-five percent of the patients had an NMD, 54% a non-NMD, and in 1% the diagnosis remained uncertain. US was abnormal in 73% of myopathies, 63% of neuromuscular junction disorders, 60% of generalized neuropathies and 58% of focal neuropathies. After excluding patients in whom muscle US was not expected to be abnormal (eg, sensory neuropathy), sensitivity was 83%, specificity 79%, PPV 75%, NPV 86%, and accuracy 81%. CONCLUSIONS: Quantitative gray scale muscle US still has good diagnostic value as a screening tool in pediatric NMD. As with any diagnostic test, muscle US is best used in conjunction with history and physical examination to increase specificity and diagnostic yield.
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Músculo Esquelético/diagnóstico por imagem , Doenças Neuromusculares/diagnóstico por imagem , Ultrassonografia de Intervenção/normas , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Ultrassonografia de Intervenção/métodosRESUMO
Neuromuscular ultrasound is a rapidly evolving specialty with direct application for patient care. Competency assessment is an essential standard needed to ensure quality for practitioners, particularly for those newly acquiring skills with the technique. Our aim was to survey experts' opinions regarding physician competency assessment of neuromuscular ultrasound and to identify minimal competency of knowledge and skills. The opinions of 18 experts were obtained through the Delphi method using two consecutive electronic surveys. A high degree of consensus was achieved on items regarding framework and the conduct of neuromuscular ultrasound assessment and the knowledge and skills that a candidate needs to attain minimal competency in neuromuscular ultrasound. In this study, a group of neuromuscular ultrasound experts developed a general framework for neuromuscular ultrasound competency assessment and recommended testable areas of knowledge and skills suitable for establishing minimal competency.
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Competência Clínica , Músculo Esquelético/diagnóstico por imagem , Doenças Neuromusculares/diagnóstico por imagem , Ultrassonografia/métodos , Consenso , Pesquisas sobre Atenção à Saúde , Humanos , Monitoração NeuromuscularRESUMO
Modern neuromuscular electrodiagnosis (EDX) and neuromuscular ultrasound (NMUS) require a universal language for effective communication in clinical practice and research and, in particular, for teaching young colleagues. Therefore, the AANEM and the IFCN have decided to publish a joint glossary as they feel the need for an updated terminology to support educational activities in neuromuscular EDX and NMUS in all parts of the world. In addition NMUS has been rapidly progressing over the last years and is now widely used in the diagnosis of disorders of nerve and muscle in conjunction with EDX. This glossary has been developed by experts in the field of neuromuscular EDX and NMUS on behalf of the AANEM and the IFCN and has been agreed upon by electronic communication between January and November 2019. It is based on the glossaries of the AANEM from 2015 and of the IFCN from 1999. The EDX and NMUS terms and the explanatory illustrations have been updated and supplemented where necessary. The result is a comprehensive glossary of terms covering all fields of neuromuscular EDX and NMUS. It serves as a standard reference for clinical practice, education and research worldwide. HIGHLIGHTS: Optimal terminology in neuromuscular electrodiagnosis and ultrasound has been revisited. A team of international experts have revised and expanded a standardized glossary. This list of terms serves as standard reference for clinical practice, education and research.
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Dicionários como Assunto , Eletrodiagnóstico/classificação , Doenças Neuromusculares/classificação , Doenças Neuromusculares/diagnóstico por imagem , Sociedades Médicas/classificação , Ultrassonografia/classificação , Humanos , Estados UnidosRESUMO
INTRODUCTION: Existing normal value references for pediatric nerve conduction studies (NCS) are based on limited sample sizes with uncertain reliability, suggesting a need for better normative data. METHODS: Electronic medical records were reviewed for pediatric patients (0 to <18 years) with normal findings on electromyography and NCS during the period from January 1, 1997 through September 20, 2017. Electrodiagnostic and demographic data were collected. Gaussian and descriptive statistics were used to establish normal values by age group. RESULTS: In this study we analyzed 1,918 normal NCS on 1,849 unique pediatric patients. Patients were stratified by age: 0 to <1 month; 1 to <6 months; 6 to <12 months; 12 to <24 months; 2 to <3 years; 3 to <4 years; 4 to <5 years; 5 to <10 years; 10 to <15 years; and 15 to <18 years. Normal reference ranges for amplitude, conduction velocity, and distal latency were established for each age group for 4 motor and 4 sensory nerves. DISCUSSION: The large sample size of this study provides reliable reference values for interpreting pediatric NCS. Muscle Nerve 60: 155-160, 2019.
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Eletromiografia , Condução Nervosa/fisiologia , Nervos Periféricos/fisiopatologia , Adolescente , Criança , Pré-Escolar , Eletrodiagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Valores de ReferênciaRESUMO
Neuromuscular ultrasound has become an essential tool in the diagnostic evaluation of various neuromuscular disorders, and, as such, there is growing interest in neuromuscular ultrasound training. Effective training is critical in mastering this modality. Our aim was to develop consensus-based guidelines for neuromuscular ultrasound training courses. A total of 18 experts participated. Expert opinion was sought through the Delphi method using 4 consecutive electronic surveys. A high degree of consensus was achieved with regard to the general structure of neuromuscular ultrasound training; the categorization of training into basic, intermediate, and advanced levels; the learning objectives; and the curriculum for each level. In this study, a group of neuromuscular ultrasound experts established consensus-based guidelines for neuromuscular ultrasound training. These guidelines can be used in the development of the specialty and the standardization of neuromuscular ultrasound training courses and workshops.
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Competência Clínica , Currículo , Guias como Assunto , Neurologistas/educação , Doenças Neuromusculares/diagnóstico por imagem , Ultrassonografia/normas , Técnica Delphi , Humanos , Fisiatras/educação , Radiologistas/educação , Reumatologistas/educaçãoRESUMO
INTRODUCTION: We sought to determine the specificity of compound muscle action potential (CMAP) durations and amplitudes in a large critical illness neuromyopathy (CINM) cohort relative to controls with other neuromuscular conditions. METHODS: Fifty-eight patients with CINM who had been seen over a 17-year period were retrospectively studied. Electrodiagnostic findings of the CINM cohort were compared with patients with axonal peripheral neuropathy and myopathy due to other causes. RESULTS: Mean CMAP durations were prolonged, and mean CMAP amplitudes were severely reduced both proximally and distally in all nerves studied in the CINM cohort relative to the control groups. The specificity of prolonged CMAP durations for CINM approached 100% if they were encountered in more than 1 nerve. DISCUSSION: Prolonged, low-amplitude CMAPs occur more frequently and with greater severity in CINM patients than in neuromuscular controls with myopathy and axonal neuropathy and are highly specific for the diagnosis of CINM. Muscle Nerve 57: 395-400, 2018.
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Potenciais de Ação/fisiologia , Músculo Esquelético/fisiopatologia , Doenças Neuromusculares/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
INTRODUCTION: Ultrasound (US) evaluation of diaphragm thickness and contractility is an effective tool in neurogenic diaphragm dysfunction. There are limited data about the value of this technique in patients with myopathy. METHODS: We performed a retrospective chart review of cases with electromyography (EMG) -confirmed myopathy and real-time US evaluation of the diaphragm. Diaphragm thickness and thickening ratio (maximal inspiration/expiration) were measured. Demographic, imaging, pathology, and genetic data were reviewed, and the clinical diagnosis was recorded. RESULTS: There were 19 eligible cases, of which 14 (73.7%) had abnormal US findings. Mean diaphragm thickness was 0.12 cm (SD 0.10), and the mean thickening ratio was 1.29 (SD 0.35). In all cases with abnormal US evaluation, the thickening ratio was abnormal. There were no cases with abnormal thickness alone. CONCLUSIONS: US examination can detect diaphragm dysfunction in myopathy. It is important to measure both the baseline thickness and thickening ratio to maximize sensitivity. Muscle Nerve 55: 427-429, 2017.
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Diafragma/diagnóstico por imagem , Doenças Musculares/patologia , Ultrassonografia , Eletromiografia , Feminino , Humanos , Masculino , Doenças Musculares/diagnóstico por imagem , Estudos RetrospectivosRESUMO
INTRODUCTION: Ultrasound is increasingly used as an adjunct in the diagnosis of neuromuscular disease by measuring muscle thickness and echointensity (EI). Reproducibility is limited because of variations in scanning technique and proprietary algorithms that alter EI values. METHODS: We developed a standardized scanning protocol and a portable machine without any postimaging processing. Ten subjects underwent scanning of 6 muscles by 3 sonographers on 2 separate days. One of the sonographers repeated the protocol with 4 different machine/transducer combinations. Gray-scale values were measured from each image with the use of a region of interest (ROI) box. RESULTS: Combined intraclass correlation coefficients were 0.92 (intra-rater), 0.88 (inter-rater), and 0.96 (inter-system). The biceps had the highest variability (coefficient of variance [COV] 12.7%), and the medial gastrocnemius had the lowest variability (COV 7.4%). CONCLUSIONS: We demonstrate excellent reliability of a reproducible ultrasound system for gray-scale analysis of muscle that has potential applicability as a screening tool for neuromuscular disease. Muscle Nerve 56: 408-412, 2017.
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Músculo Esquelético/diagnóstico por imagem , Ultrassonografia/normas , Adulto , Criança , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Ultrassonografia/métodosRESUMO
INTRODUCTION: Cranial muscle fasciculations may be difficult to detect in amyotrophic lateral sclerosis (ALS). Ultrasound (US) detection of fasciculations in these muscles may have clinical utility. METHODS: Patients with suspected ALS were prospectively enrolled. Nerve conduction studies, needle electromyography (EMG), and US examination of cranial muscles were performed. Controls were examined by US only. Fasciculations were counted and scored for each muscle after 10 or 30 seconds. RESULTS: There were 84 patients with ALS. Fasciculations were most frequently found in the genioglossus muscle. Overall, detection rates by US and EMG were similar, but US was more likely to detect frequent fasciculations. Fasciculations were rare in controls, seen in 7 of 1,090 (0.6%) muscles. No control had > 5 fasciculations in any muscle. DISCUSSION: Fasciculations were frequently detected in cranial muscles of patients with ALS. US was found to be a sensitive method, and was not impaired by factors such as anxiety and the inability of the patient to relax. Muscle Nerve 56: 1072-1076, 2017.
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Esclerose Lateral Amiotrófica/diagnóstico por imagem , Nervos Cranianos/diagnóstico por imagem , Fasciculação/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/inervação , Idoso , Esclerose Lateral Amiotrófica/fisiopatologia , Nervos Cranianos/fisiopatologia , Eletromiografia/métodos , Fasciculação/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/fisiopatologia , Condução Nervosa/fisiologia , Estudos Prospectivos , Método Simples-CegoRESUMO
INTRODUCTION: Neuromuscular choristomas (NMCs) are rare benign peripheral nerve lesions in which skeletal muscle tissue is admixed with nerve fascicles. METHODS: We describe a case of sciatic nerve NMC presenting with unilateral limb hypoplasia, monoparesis, and equinovarus contracture in a pediatric patient. We outline the unique clinical presentation and diagnostic work-up for our patient, including electromyographic and imaging studies. RESULTS: MRI revealed fusiform enlargement of the sciatic nerve, <50% intralesional fat, and signal characteristics similar to those of muscle tissue. Ultrasound was utilized to characterize atrophy and fatty infiltration of affected muscles. The patient was treated conservatively with a customized physical therapy program and lower limb orthosis. CONCLUSIONS: Emerging diagnostic criteria are highlighted with the goal of distinguishing NMCs from more common peripheral nerve lesions. This can have important clinical consequences, as unnecessary biopsies are associated with aggressive fibromatosis, a potentially devastating complication. Muscle Nerve 54: 797-801, 2016.
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Coristoma/diagnóstico por imagem , Perna (Membro)/diagnóstico por imagem , Neuropatia Ciática/diagnóstico por imagem , Pré-Escolar , Coristoma/complicações , Diagnóstico Diferencial , Humanos , Masculino , Neuropatia Ciática/complicaçõesRESUMO
INTRODUCTION: The aim of this consensus statement is to provide a recommendation from AANEM experts on the clinical utility of genetic testing. It is not meant to recommend or endorse any specific genetic testing methodology or algorithm. METHODS: The AANEM Professional Practice Committee reached a consensus based on expert opinion on the utility of genetic testing in neuromuscular diseases and made recommendations on factors that physicians and patients should consider when deciding whether to proceed with such testing. RESULTS: Despite the costs of genetic testing, these tests can be both valuable and beneficial in the diagnosis and treatment of neuromuscular diseases in many situations. CONCLUSIONS: The AANEM believes that performing genetic testing to arrive at a specific molecular diagnosis is a critical step in providing high-quality care to neuromuscular patients. The cost of testing should not be a deterrent, as there are important clinical, safety, psychosocial, and research benefits. Muscle Nerve 54: 1007-1009, 2016.
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Consenso , Testes Genéticos , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/genética , Humanos , Sociedades Médicas/normas , Estados UnidosRESUMO
BACKGROUND: Conventionally, ultrasonographic assessment of diaphragm contractility has involved measuring respiratory changes in diaphragm thickness (thickening fraction) using B-mode or caudal displacement with M-mode. Two-dimensional speckle-tracking has been increasingly used to assess muscle deformation ('strain') in echocardiography. We sought to determine in a pilot study if this technology could be utilized to analyze diaphragmatic contraction. METHODS: Fifty healthy adult volunteers with normal exercise capacity underwent ultrasound imaging. A linear array transducer was used for the assessment of diaphragm thickness, thickening fraction (TF), and strain in the right anterior axillary line at approximately the ninth intercostal space. A phased array transducer was applied subcostally for the assessment of diaphragm displacement on the right mid-clavicular line. Diaphragmatic images were recorded from the end of expiration through the end of inspiration at 60 % maximal inspiratory capacity. Diaphragm strain was analyzed off-line by speckle tracking imaging. Blinded inter- and intra-rater variability was tested in 10 cases. RESULTS: Mean right diaphragm thickness at end-expiration (±SD: standard deviation) was 0.24 cm (±0.1), with TF of 45.1 % (±12) at 60 % peak inspiratory effort. Mean right diaphragm caudal displacement was 4.9 cm (±1). Mean right diaphragm strain was -40.3 % (±9). A moderate correlation was seen between longitudinal strain and TF (R(2) 0.44, p < 0.0001). A weak correlation was seen between strain and caudal displacement (R(2) 0.14, p < 0.01), and an even weaker correlation was seen between caudal displacement and TF (R(2) 0.1, p = 0.04). Age, gender, and body mass index were not significantly associated with right diaphragm strain or TF. Although inter- and intra-rater variability was overall good for TF, caudal displacement, and strain (inter-rater R(2); 0.8, 0.9, and 0.7, respectively [p < 0.01], intra-rater R(2); 0.9, 0.7, and 0.9, respectively [p < 0.01]), strain values did have a slightly lower inter-rater repeatability. CONCLUSIONS: Diaphragmatic strain estimated by speckle tracking imaging was associated with conventional ultrasound measures of diaphragmatic function (TF and caudal displacement). Further clinical studies are warranted to investigate its clinical utility.