Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 9 de 9
Filtrar
1.
Neurol Sci ; 44(5): 1831-1832, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36781565

RESUMEN

A 43-year-old male patient with a 7-year history of liver transplantation due to p.Val50Met hereditary transthyretin amyloidosis (ATTRv) persisted with refractory neuropathic pain, distal weakness, and progressive worsening of dysautonomia. Nerve ultrasound was performed showing increased nerve cross-sectional area and enlarged fascicles in proximal sites in both arms, suggestive of amyloidosis. Nerve enlargement is commonly reported in inflammatory and hereditary demyelinating hypertrophic neuropathies but can also be present in deposition diseases. Neuromuscular ultrasound is a tool for the bed-side assessment of peripheral neuropathies and it is useful for early diagnosis of ATTRv.


Asunto(s)
Neuropatías Amiloides Familiares , Neuralgia , Masculino , Humanos , Adulto , Neuropatías Amiloides Familiares/complicaciones , Neuropatías Amiloides Familiares/diagnóstico por imagen , Ultrasonografía , Prealbúmina
2.
Eur J Transl Myol ; 34(2)2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38767308

RESUMEN

Pain represents a common symptom of several diseases and is often associated with a reduction in rehabilitation outcomes and recovery. The effectiveness of pain alleviation by botulinum toxin has been recently demonstrated. We searched in PubMed the papers about this topic published in the last ten years, and we selected clinical trials, guidelines, meta-analyses, reviews, and systematic reviews. We used different approaches: multiperspective presentation, lexical evaluation, and systematic review. The systematic review was only performed for the randomized controlled trials. We predominantly found reviews and trials about the rehabilitation of stroke/brain injury and epicondylitis. The most common outcome measures were pain, function, and spasticity. Among the common words, pain was the most frequent and the terms were grouped into different families, especially concerning the outcomes. Rehabilitation showed a relatively low frequency. Finally, the systematic review showed moderate-low levels of bias which confirms the effectiveness of botulinum toxin for pain treatment. The current literature about botulinum toxin is wide and globally diffuse but with some limitations in study strategies and clearness in the formal presentation. The evidence justifies the use of botulinum toxin in treating pain in different diseases.

3.
Ultrasound Med Biol ; 49(7): 1569-1574, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37037685

RESUMEN

OBJECTIVE: We investigated ultrasound patterns of muscle involvement in different types of spinal muscular atrophy (SMA) and their correlation with functional status to determine the pattern of muscle compromise in patients with SMA and the potential role of ultrasound to evaluate disease progression. METHODS: We examined muscles (biceps brachii, rectus femoris, diaphragm, intercostals and thoracic multifidus) of 41 patients with SMA (types 1 to 4) and 46 healthy age- and sex-matched control individuals using B-mode ultrasound for gray-scale analysis (GSA), area (biceps brachii and rectus femoris) and diaphragm thickening ratio. Functional scales were applied to patients only. We analyzed ultrasound abnormalities in specific clinical subtypes and correlated findings with functional status. RESULTS: Compared with controls, patients had reduced muscle area and increased mean GSA for all muscles (p < 0.001), with an established correlation between the increase in GSA and the severity of SMA for biceps brachii, rectus femoris and intercostals (p = 0.03, 0.01 and 0.004 respectively) when using the Hammersmith Functional Motor Scale Expanded. Diaphragm thickening ratio was normal in the majority of patients, and intercostal muscles had higher GSA than diaphragm in relation to the controls. CONCLUSION: Ultrasound is useful for quantifying muscular changes in SMA and correlates with functional status. Diaphragm thickening ratio can be normal even with severe compromise of respiratory muscles in quantitative analysis, and intercostal muscles were more affected than diaphragm.


Asunto(s)
Atrofia Muscular Espinal , Humanos , Atrofia Muscular Espinal/complicaciones , Atrofia Muscular Espinal/diagnóstico por imagen , Músculo Esquelético/diagnóstico por imagen , Ultrasonografía , Diafragma/diagnóstico por imagen , Músculos Intercostales
4.
Neuromuscul Disord ; 32(9): 763-768, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35879189

RESUMEN

Diagnosis of later-onset spinal muscular atrophy (SMA) can be challenging. This study aimed to evaluate the diagnostic properties of the detection of muscle fasciculations for SMA diagnosis in adolescents and adults with proximal muscle weakness. A cross-sectional diagnostic accuracy study was performed, in which 10 subjects with SMA (5 with type II and 5 with type III) and 9 subjects with genetic muscle diseases were evaluated by physical examination, muscle ultrasound (MUS) and electromyography (EMG). Inter-rater reliability of MUS was higher than physical examination and in a sensitivity analysis of MUS, all SMA subjects and a single patient with genetic muscle disease presented fasciculations in at least 2 different muscle groups, resulting in a sensitivity of 1 (95% CI: 0.69 to 1) and a specificity of 0.89 (95% CI: 0.52 to 1) for SMA diagnosis. Forty-two percent of evaluated subjects did not agree to perform EMG, limiting this method results. Muscle ultrasound presented the best diagnostic accuracy and physical examination combined with MUS seemed to be a good strategy for screening adolescents and adults with proximal muscle weakness for SMA. These results might improve diagnostic guidelines for later-onset SMA, leading to earlier diagnosis, treatment and specific care.


Asunto(s)
Fasciculación , Atrofia Muscular Espinal , Adolescente , Adulto , Estudios Transversales , Fasciculación/diagnóstico , Humanos , Debilidad Muscular , Músculos , Atrofia Muscular , Atrofia Muscular Espinal/diagnóstico , Reproducibilidad de los Resultados
5.
Nat Med ; 27(7): 1197-1204, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34059824

RESUMEN

Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the lower and upper motor neurons with sporadic or hereditary occurrence. Age of onset, pattern of motor neuron degeneration and disease progression vary widely among individuals with ALS. Various cellular processes may drive ALS pathomechanisms, but a monogenic direct metabolic disturbance has not been causally linked to ALS. Here we show SPTLC1 variants that result in unrestrained sphingoid base synthesis cause a monogenic form of ALS. We identified four specific, dominantly acting SPTLC1 variants in seven families manifesting as childhood-onset ALS. These variants disrupt the normal homeostatic regulation of serine palmitoyltransferase (SPT) by ORMDL proteins, resulting in unregulated SPT activity and elevated levels of canonical SPT products. Notably, this is in contrast with SPTLC1 variants that shift SPT amino acid usage from serine to alanine, result in elevated levels of deoxysphingolipids and manifest with the alternate phenotype of hereditary sensory and autonomic neuropathy. We custom designed small interfering RNAs that selectively target the SPTLC1 ALS allele for degradation, leave the normal allele intact and normalize sphingolipid levels in vitro. The role of primary metabolic disturbances in ALS has been elusive; this study defines excess sphingolipid biosynthesis as a fundamental metabolic mechanism for motor neuron disease.


Asunto(s)
Esclerosis Amiotrófica Lateral/metabolismo , Esfingolípidos/biosíntesis , Adolescente , Adulto , Alelos , Secuencia de Aminoácidos , Esclerosis Amiotrófica Lateral/enzimología , Esclerosis Amiotrófica Lateral/genética , Sistemas CRISPR-Cas , Niño , Femenino , Genes Dominantes , Células HEK293 , Humanos , Masculino , Persona de Mediana Edad , Mutación , Serina C-Palmitoiltransferasa/genética , Serina C-Palmitoiltransferasa/metabolismo , Adulto Joven
6.
Clin Neurophysiol ; 131(7): 1589-1598, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32417701

RESUMEN

On 31st December 2019, China notified the World Health Organization of an outbreak of atypical pneumonia from patients at a local seafood market in Wuhan, Hubei, China, responsible for a new coronavirus called Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) that caused COVID-19 disease, which spread rapidly around the world. WHO declared a state of pandemic (11th March, 2020), which has caused more than 1 million infected and more than 110,000 deaths; it was observed that up to 29% of those infected were health care personnel. The main route of transmission of SARS-CoV2 is through respiratory secretions and direct contact with contaminated surfaces and material. The pandemic induced an international saturation of health care services and a rupture in the supply chain of protective equipment for healthcare personnel, which poses a high occupational risk to all. Based on the different healthcare systems, human resources, infrastructure and medical emergencies that will warrant the conduct of clinical neurophysiology studies and the lack of a guide for the management of the situation, it was decided by an expert task force of the Latin American Chapter of the International Federation of Clinical Neurophysiology to carry out these guidelines for the protection of patient and healthcare professionals conducting clinical neurophysiological studies.


Asunto(s)
Betacoronavirus , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/prevención & control , Personal de Salud/estadística & datos numéricos , Monitorización Neurofisiológica/normas , Enfermedades Profesionales/prevención & control , Pandemias/prevención & control , Neumonía Viral/epidemiología , Neumonía Viral/prevención & control , Comités Consultivos , Atención Ambulatoria , COVID-19 , Infecciones por Coronavirus/transmisión , Desinfección/métodos , Electroencefalografía/métodos , Humanos , Higiene , Pacientes Internos , América Latina/epidemiología , Magnetoencefalografía , Máscaras , Monitorización Neurofisiológica/métodos , Equipo de Protección Personal/normas , Neumonía Viral/transmisión , Polisomnografía , Factores de Riesgo , SARS-CoV-2
7.
J Clin Neurophysiol ; 35(1): 48-58, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29298212

RESUMEN

The cranial nerves IX and X emerge from medulla oblongata and have motor, sensory, and parasympathetic functions. Some of these are amenable to neurophysiological assessment. It is often hard to separate the individual contribution of each nerve; in fact, some of the techniques are indeed a composite functional measure of both nerves. The main methods are the evaluation of the swallowing function (combined IX and X), laryngeal electromyogram (predominant motor vagal function), and heart rate variability (predominant parasympathetic vagal function). This review describes, therefore, the techniques that best evaluate the major symptoms presented in IX and X cranial nerve disturbance: dysphagia, dysphonia, and autonomic parasympathetic dysfunction.


Asunto(s)
Electrodiagnóstico , Nervio Glosofaríngeo/fisiología , Nervio Vago/fisiología , Nervio Glosofaríngeo/anatomía & histología , Nervio Glosofaríngeo/fisiopatología , Humanos , Nervio Vago/anatomía & histología , Nervio Vago/fisiopatología
8.
J Clin Neurophysiol ; 32(4): 274-83, 2015 08.
Artículo en Inglés | MEDLINE | ID: mdl-26241236

RESUMEN

Laryngeal electromyography is considered a valuable diagnostic tool for voice disorders. The technique, described almost 70 years ago, evolved 3 decades later, mainly because of the growing interest of laryngologists and speech pathologists. In the authors' opinion, the reduced number of neurophysiologists involved in laryngeal electromyography groups is, at some instance, related to the difficulty to start the learning process and the multidisciplinary approach the field requires. This review highlights the anatomy and physiology needed to perform laryngeal electromyography and its clinical usefulness in the new field known as neurolaryngology.


Asunto(s)
Electromiografía/métodos , Músculos Laríngeos/fisiopatología , Laringe/patología , Trastornos de la Voz/diagnóstico , Humanos , Laringe/fisiopatología
9.
Skull Base ; 14(1): 9-19; discussion 19-20, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-16145580

RESUMEN

Different pathologies may be located at the petrous apex. The primary surgical approaches used to remove such lesions are the pterional, subtemporal, presigmoid, and retrosigmoid. Each has advantages and disadvantages, and the distance to the petrous apex varies with the approach. Anatomical variations in cranial morphology may interfere with these distances. Dolichocephalic skulls have a longer anteroposterior axis than brachycephalic ones. Three hundred computed tomographic scans and 65 dry human skulls were analyzed to determine if cranial morphology could indicate the shortest distance to the petrous apex. The distance between the external cortical table of the skull and the petrous apex in each surgical approach was measured. The lengths of the anteroposterior axis (L) and the widths of the lateral axis (W) were measured to determine the cranial index (W/L x 100). This distance was longest in skulls with a high cranial index (brachycephalic) independent of the approach used. Statistical analysis showed that the distance to the previous apex was longest in the retrosigmoid approach and shortest in the pterional approach in all kinds of skulls. Brachycephalic skulls lose this ellipsoidal shape and the anterior laterolateral diameter is smaller than the posterior laterolateral diameter. Consequently, the distance from the cortical skull table to the petrous apex is shorter in brachycephalic skulls using all surgical approaches described in this article.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA