Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 10.460
Filtrar
1.
Nat Commun ; 11(1): 6108, 2020 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-33257646

RESUMO

Duchenne muscular dystrophy (DMD) affects 1 in 3500 live male births. To date, there is no effective cure for DMD, and the identification of novel molecular targets involved in disease progression is important to design more effective treatments and therapies to alleviate DMD symptoms. Here, we show that protein levels of the Bromodomain and extra-terminal domain (BET) protein BRD4 are significantly increased in the muscle of the mouse model of DMD, the mdx mouse, and that pharmacological inhibition of the BET proteins has a beneficial outcome, tempering oxidative stress and muscle damage. Alterations in reactive oxygen species (ROS) metabolism are an early event in DMD onset and they are tightly linked to inflammation, fibrosis, and necrosis in skeletal muscle. By restoring ROS metabolism, BET inhibition ameliorates these hallmarks of the dystrophic muscle, translating to a beneficial effect on muscle function. BRD4 direct association to chromatin regulatory regions of the NADPH oxidase subunits increases in the mdx muscle and JQ1 administration reduces BRD4 and BRD2 recruitment at these regions. JQ1 treatment reduces NADPH subunit transcript levels in mdx muscles, isolated myofibers and DMD immortalized myoblasts. Our data highlight novel functions of the BET proteins in dystrophic skeletal muscle and suggest that BET inhibitors may ameliorate the pathophysiology of DMD.


Assuntos
Distrofia Muscular de Duchenne/metabolismo , Proteínas Nucleares/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Fatores de Transcrição/metabolismo , Animais , Azepinas/farmacologia , Modelos Animais de Doenças , Inflamação/metabolismo , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos mdx , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofia Muscular de Duchenne/patologia , NADP , NADPH Oxidases/metabolismo , Doenças Neuromusculares/metabolismo , Proteínas Nucleares/efeitos dos fármacos , Espécies Reativas de Oxigênio/metabolismo , Fatores de Transcrição/efeitos dos fármacos , Triazóis/farmacologia
2.
Brain Nerve ; 72(12): 1319-1330, 2020 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-33293466

RESUMO

Age-related changes in physical function are attracting attention in Japan. Sarcopenia is known as the loss of skeletal muscle mass and strength in the elderly. Secondary sarcopenia due to neuromuscular disorders should be considered in patients with sarcopenia. Providing appropriate medical care for patients with neuromuscular disorders will extend healthy life expectancy. In this review, previous studies on age-related changes in the neuromuscular system were summarized and the common neuromuscular disorders in the oldest-old were reviewed.


Assuntos
Doenças Neuromusculares , Sarcopenia , Idoso , Idoso de 80 Anos ou mais , Envelhecimento , Humanos , Japão , Músculo Esquelético/patologia , Doenças Neuromusculares/epidemiologia , Doenças Neuromusculares/terapia , Sarcopenia/diagnóstico , Sarcopenia/epidemiologia , Sarcopenia/terapia
4.
PLoS One ; 15(11): e0242552, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33211773

RESUMO

Restoration of upper limb motor function and patient functional independence are crucial treatment targets in neurological rehabilitation. Growing evidence indicates that music-based intervention is a promising therapeutic approach for the restoration of upper extremity functional abilities in neurologic conditions such as cerebral palsy, stroke, and Parkinson's Disease. In this context, music technology may be particularly useful to increase the availability and accessibility of music-based therapy and assist therapists in the implementation and assessment of targeted therapeutic goals. In the present study, we conducted a pre-clinical, single-arm trial to evaluate a novel music-based therapeutic device (SONATA) for upper limb extremity movement training. The device consists of a graphical user interface generated by a single-board computer displayed on a 32" touchscreen with built-in speakers controlled wirelessly by a computer tablet. The system includes two operational modes that allow users to play musical melodies on a virtual keyboard or draw figures/shapes whereby every action input results in controllable sensory feedback. Four motor tasks involving hand/finger movement were performed with 21 healthy individuals (13 males, aged 26.4 ± 3.5 years) to evaluate the device's operational modes and main features. The results of the functional tests suggest that the device is a reliable system to present pre-defined sequences of audiovisual stimuli and shapes and to record response and movement data. This preliminary study also suggests that the device is feasible and adequate for use with healthy individuals. These findings open new avenues for future clinical research to further investigate the feasibility and usability of the SONATA as a tool for upper extremity motor function training in neurological rehabilitation. Directions for future clinical research are discussed.


Assuntos
Braço/fisiologia , Retroalimentação Sensorial , Transtornos dos Movimentos/reabilitação , Musicoterapia/instrumentação , Doenças Neuromusculares/reabilitação , Modalidades de Fisioterapia/instrumentação , Estimulação Acústica , Adulto , Sistemas Computacionais , Estudos de Viabilidade , Feminino , Dedos/fisiologia , Mãos/fisiologia , Humanos , Masculino , Transtornos dos Movimentos/fisiopatologia , Música , Doenças Neuromusculares/fisiopatologia , Estimulação Luminosa , Desempenho Psicomotor , Tempo de Reação , Valores de Referência , Comportamento Espacial , Interface Usuário-Computador , Adulto Jovem
5.
J Bras Pneumol ; 46(6): e20200064, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-33237154

RESUMO

The diaphragm is the main muscle of respiration, acting continuously and uninterruptedly to sustain the task of breathing. Diaphragmatic dysfunction can occur secondary to numerous pathological conditions and is usually underdiagnosed in clinical practice because of its nonspecific presentation. Although several techniques have been used in evaluating diaphragmatic function, the diagnosis of diaphragmatic dysfunction is still problematic. Diaphragmatic ultrasound has gained importance because of its many advantages, including the fact that it is noninvasive, does not expose patients to radiation, is widely available, provides immediate results, is highly accurate, and is repeatable at the bedside. Various authors have described ultrasound techniques to assess diaphragmatic excursion and diaphragm thickening in the zone of apposition. Recent studies have proposed standardization of the methods. This article reviews the usefulness of ultrasound for the evaluation of diaphragmatic function, addressing the details of the technique, the main findings, and the clinical applications.


Assuntos
Diafragma/diagnóstico por imagem , Ultrassonografia/métodos , Humanos , Doenças Neuromusculares , Músculos Respiratórios , Doenças Respiratórias
6.
J Pediatr Rehabil Med ; 13(3): 405-414, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33185615

RESUMO

COVID-19, the respiratory and frequently systemic disease caused by the novel SARS-COV-2 virus, was first recognized in December 2019 and quickly spread to become a pandemic and world-wide public health emergency over the subsequent 3-4 months. While COVID-19 has a very low morbidity rate across approximately 80% of the population, it has a high morbidity and mortality rate in the remaining 20% of the population.1 These numbers have put a significant strain on medical systems around the world. Patients with neuromuscular diseases such as those with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), tend to be more medically fragile and have higher health care needs than the general population. Respiratory insufficiency, cardiac disease, obesity, and immunocompromised status due to chronic steroid treatments in certain patient populations with neuromuscular conditions are specific risk factors for severe COVID-19 disease. In general, the pediatric population has shown to be less severely impacted with lower infection rates and lower morbidity and mortality rates than the adult population, however, as expected, children with underlying medical conditions are at higher risk of morbidity from COVID-19 than their peers.2 Many patients with neuromuscular disease also rely heavily on caregiver support through their lifetime and thus maintaining the health of their primary caregivers is also a significant consideration in the health and well-being of the patients. This paper will address routine and emergency medical care, rehabilitation services, and other considerations for the pediatric patient with a neuromuscular condition during the COVID-19 pandemic.


Assuntos
/epidemiologia , Doenças Neuromusculares/epidemiologia , Pandemias , Criança , Comorbidade , Saúde Global , Humanos
7.
Fisioterapia (Madr., Ed. impr.) ; 42(5): 277-280, sept.-oct. 2020. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-195144

RESUMO

ANTECEDENTES: La cervicalgia crónica (CC) es una afección frecuente, siendo una de las principales causas de discapacidad. Dentro de los tratamientos fisioterapéuticos más utilizados se encuentran el ejercicio y la movilización manual vertebral (MMV). No obstante, la aplicación de MMV se basa en fundamentos artrocinemáticos y no en el propósito directo de favorecer la ejecución de un ejercicio específico. OBJETIVO: Describir el efecto de un programa de fisioterapia a corto y medio plazo basado en MMV destinada a favorecer el ejercicio de flexión cráneo-cervical (EFCC). Descripción de los casos: Se evaluaron la intensidad de dolor, el umbral de dolor a la presión, el rango de movimiento, el control neuromuscular y la discapacidad cervical en 12 mujeres con CC al inicio, al término y a 3 meses de finalizada la intervención. Intervención: Se ejecutó un programa de 10 sesiones de tratamiento basadas en EFCC y MMV. RESULTADOS: Todas las participantes experimentaron una mejoría clínicamente relevante de su condición a corto plazo, la que se mantuvo 3 meses postintervención. CONCLUSIÓN: El EFCC sumado a una técnica de MMV que busca potenciar la ejecución del ejercicio presentó resultados positivos en mujeres con CC a corto y medio plazo


BACKGROUND: Chronic neck pain is a frequent condition, considered one of the main causes of disability. Among the most used physiotherapeutic treatments are exercise and vertebral manual mobilisation (VMM). However, the application of VMM is based on arthrokinematic fundamentals and not on directly favouring the execution of a specific exercise. OBJECTIVE: to describe the effect of a short- and medium-term physiotherapy programme based on VMM aimed at promoting the exercise of cranio-cervical flexion (CCFE). Cases description: Pain intensity, pressure pain threshold, range of motion, neuromuscular control and cervical disability were evaluated in 12 women with chronic neck pain at the beginning, end and 3 months after the intervention. Intervention: A programme of 10 treatment sessions based on CCFE and VMM was executed. RESULTS: all participants experienced a clinically relevant improvement of their condition in the short term, which remained 3 months post-intervention. CONCLUSION: The CCFE added to a VMM, which seeks to enhance the execution of the exercise, presented positive results in women with chronic neck pain in the short and medium term


Assuntos
Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Cervicalgia/reabilitação , Cervicalgia/terapia , Fenômenos Biomecânicos/fisiologia , Modalidades de Fisioterapia , Dor Crônica/reabilitação , Medição da Dor , Dor Crônica/terapia , Doenças Neuromusculares/reabilitação , Monitoração Neuromuscular
8.
Lancet Child Adolesc Health ; 4(11): 828-836, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33068549

RESUMO

BACKGROUND: Acute flaccid myelitis (AFM) is characterised by rapid onset of limb weakness with spinal cord grey-matter abnormalities on MRI scan. We aimed to assess whether detection of enterovirus in respiratory or other specimens can help predict prognosis in children with AFM. METHODS: In this nationwide, longitudinal study, we evaluated the significance of detection of enterovirus in any sample in predicting outcomes in a cohort of Canadian children younger than 18 years presenting with AFM to tertiary paediatric hospitals in Canada in 2014 and 2018. All patients fulfilled the 2015 US Centers for Disease Control and Prevention case definition for definite AFM or probable AFM. Clinical data, laboratory findings, treatment, and neuroimaging results were collected (follow up period up to 5 years). We assessed neurological function and motor outcomes using Kurtzke's Expanded Disability Status Scale (EDSS) and a Weakest Limb Score. FINDINGS: 58 children with AFM (median age 5·1 years, IQR 3·8-8·3) were identified across five of Canada's ten provinces and three territories. 25 (43%) children had enterovirus detected in at least one specimen: 16 (64%) with EV-D68, two (8%) with EV-A71, two (8%) with coxsackievirus, 10 (40%) with untyped enterovirus. Children who were enterovirus positive were more likely than those that were negative to have had quadriparesis (12 [48%] of 25 vs four [13%] of 30; p=0·028), bulbar weakness (11 [44%] of 25 vs two [7%] of 30; p=0·028), bowel or bladder dysfunction (14 [56%] of 25 vs seven [23%] of 30; p=0·040), cardiovascular instability (nine [36%] of 25 vs one [3%] of 30; p=0·028), and were more likely to require intensive care unit admission (13 [52%] of 25 vs 5 [17%] of 30; p=0·028). On MRI, most children who were enterovirus positive showed brainstem pontine lesions (14 [61%] of 23), while other MRI parameters did not correlate with enterovirus status. Median EDSS of enterovirus positive (EV+) and enterovirus negative (EV-) groups was significantly different at all timepoints: baseline (EDSS 8·5, IQR 4·1-9·5 vs EDSS 4·0, IQR 3·0-6·0; p=0·0067), 3 months (EDSS 4·0, IQR 3·0-7·4 vs EDSS 3·0, IQR 1·5-4·3; p=0·0067), 6 months (EDSS 3·5, IQR 3·0-7·0 vs EDSS 3·0, IQR 1·0-4·0; p=0·029), and 12 months (EDSS 3·0, IQR 3·0-6·9 vs EDSS 2·5 IQR 0·3-3·0; p=0·0067). Kaplan-Meier survival analysis of a subgroup of patients showed significantly poorer motor recovery among children who tested positive for enterovirus than for those who tested negative (p=0·037). INTERPRETATION: Detection of enterovirus in specimens from non-sterile sites at presentation correlated with more severe acute motor weakness, worse overall outcomes and poorer trajectory for motor recovery. These results have implications for rehabilitation planning as well as counselling of families of children with these disorders. The findings of this study support the need for early testing for enterovirus in non-CNS sites in all cases of AFM. FUNDING: None.


Assuntos
Viroses do Sistema Nervoso Central , Enterovirus/isolamento & purificação , Debilidade Muscular , Mielite , Doenças Neuromusculares , Medula Espinal/diagnóstico por imagem , Canadá/epidemiologia , Viroses do Sistema Nervoso Central/diagnóstico , Viroses do Sistema Nervoso Central/epidemiologia , Viroses do Sistema Nervoso Central/microbiologia , Viroses do Sistema Nervoso Central/terapia , Pré-Escolar , Enterovirus/classificação , Feminino , Hospitais Pediátricos/estatística & dados numéricos , Humanos , Estudos Longitudinais , Imagem por Ressonância Magnética/métodos , Imagem por Ressonância Magnética/estatística & dados numéricos , Masculino , Destreza Motora , Debilidade Muscular/diagnóstico , Debilidade Muscular/etiologia , Debilidade Muscular/reabilitação , Mielite/diagnóstico , Mielite/epidemiologia , Mielite/microbiologia , Mielite/terapia , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/epidemiologia , Doenças Neuromusculares/microbiologia , Doenças Neuromusculares/terapia , Avaliação de Resultados em Cuidados de Saúde , Prognóstico , Recuperação de Função Fisiológica
9.
Annu Int Conf IEEE Eng Med Biol Soc ; 2020: 4138-4142, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-33018909

RESUMO

Surface and needle-based electromyography signals are used as diagnostic markers for detecting neuromuscular disorders. Existing systems that are used to acquire these signals are usually expensive and invasive in practice. A novel 8 channel surface EMG (sEMG) acquisition system is designed and developed to acquire signals for various upper limb movements in order to evaluate the motor impairment. The real time sEMG signals are generated from the muscle fibre movements, originated solely from the upper limb physical actions. Intuitively, sEMG signals characterize different actions performed by the upper limb, which is considered apt for assessing the improvement for post stroke patients undergoing routine physical therapy activities. The system is designed and assembled in a view to make it affordable and modular for easier proliferation, and extendable to motor classifying applications. The system was validated by recording realtime sEMG data using six differential electrodes for various finger and wrist actions. The signals are filtered and processed to develop a machine learning (ML) model to classify upper limb actions, and other electronic systems are designed in the portable form around the patch electrodes. A classifier was trained to predict each action and the accuracy of the classifier was assessed across different usage of channels. The accuracy of the classifier was improved by optimizing the number of electrodes as well as the spatial position of these electrodes. The sEMG circuit designed has the capacity to characterize wrists, and finger movements. The improvement observed in the sEMG signals should benefit the physiotherapists to plan further protocols in the prescribed rehabilitation program.


Assuntos
Doenças Neuromusculares , Reabilitação do Acidente Vascular Cerebral , Eletromiografia , Humanos , Extremidade Superior , Articulação do Punho
10.
Brain Nerve ; 72(10): 1085-1089, 2020 Oct.
Artigo em Japonês | MEDLINE | ID: mdl-33051397

RESUMO

A novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), emerged from Wuhan in December 2019 and resulted in a severe outbreak of pneumonia (COVID-19). SARS-CoV-2 is transmitted through respiratory droplets produced by coughs or sneezes, as well as aerosols containing viral particles. Noninvasive positive pressure ventilation (NPPV) is widely used to support respiration in patients with neuromuscular diseases. However, NPPV is also an aerosol-generating procedure. Without appropriate precautions, the risk of spreading the virus is high in NPPV users infected with SARS-CoV-2. At home, self-quarantine is effective in protecting caregivers of patients using NPPV, whereas in hospitals, using a negative pressure room is preferred. As SARS-CoV-2 can survive on surfaces for several days, disinfecting the NPPV machine and the items frequently touched in the room is essential. Setting viral filters is useful for preventing virus transmission and keeping the inside of the NPPV machine clean. Caregivers must wear appropriate personal protective equipment. Furthermore, it should be paid attention to the potential transmission from asymptomatic SARS-CoV-2 carriers. During the current pandemic, it is necessary to minimize the risk of transmission among patients using NPPV.


Assuntos
Betacoronavirus , Infecções por Coronavirus , Doenças Neuromusculares , Pandemias , Pneumonia Viral , Infecções por Coronavirus/complicações , Humanos , Doenças Neuromusculares/etiologia , Doenças Neuromusculares/terapia , Pneumonia Viral/complicações
11.
Muscle Nerve ; 62(5): 611-616, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33103253

RESUMO

We report a series of 10 patients with unilateral, dynamic, winged scapula (WS), without cause, that was diagnosed as voluntary winging of the scapula (VWS). We compared clinical, electrodiagnostic, and other examination data for 10 patients with VWS and 146 with dynamic WS-related neuromuscular disorders, to establish a detailed pattern of the VWS subtype. In VWS, electrodiagnostic and other examinations did not reveal any neuromuscular or orthopedic cause. Winging was dynamic, obvious, neither medial nor lateral, and mainly involved the inferior angle of the scapula, in young patients. VWS never appeared during floor push-ups. Patients could produce WS at will with the index and healthy shoulder, between 25° and 65° of anterior elevation, or with shoulder internal rotation. VWS is a benign disorder that can be distinguished from neuromuscular WS by normal electrodiagnostic results for muscles and nerves of both shoulders and two specific clinical tests.


Assuntos
Eletromiografia , Doenças Musculoesqueléticas/diagnóstico , Doenças Neuromusculares/diagnóstico , Exame Físico , Escápula/inervação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculoesqueléticas/diagnóstico por imagem , Doenças Musculoesqueléticas/fisiopatologia , Doenças Neuromusculares/diagnóstico por imagem , Doenças Neuromusculares/fisiopatologia , Adulto Jovem
12.
Thorax ; 75(11): 965-973, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32895315

RESUMO

INTRODUCTION: Although home non-invasive ventilation (NIV) is increasingly used to manage patients with chronic ventilatory failure, there are limited data on the long-term outcome of these patients. Our aim was to report on home NIV populations and the long-term outcome from two European centres. METHODS: Cohort analysis including all patients established on home NIV from two European centres between 2008 and 2014. RESULTS: Home NIV was initiated in 1746 patients to treat chronic ventilatory failure caused by (1) obesity hypoventilation syndrome±obstructive sleep apnoea (OHS±OSA) (29.5%); (2) neuromuscular disease (NMD) (22.7%); and (3) obstructive airway diseases (OAD) (19.1%). Overall cohort median survival following NIV initiation was 6.6 years. Median survival varied by underlying aetiology of respiratory failure: rapidly progressive NMD 1.1 years, OAD 2.7 years, OHS±OSA >7 years and slowly progressive NMD >7 years. Multivariate analysis demonstrated higher mortality in patients with rapidly progressive NMD (HR 4.78, 95% CI 3.38 to 6.75), COPD (HR 2.25, 95% CI 1.64 to 3.10), age >60 years at initiation of home NIV (HR 2.41, 95% CI 1.92 to 3.02) and NIV initiation following an acute admission (HR 1.38, 95% CI 1.13 to 1.68). Factors associated with lower mortality were NIV adherence >4 hours per day (HR 0.64, 95% CI 0.51 to 0.79), OSA (HR 0.51, 95% CI 0.31 to 0.84) and female gender (HR 0.79, 95% CI 0.65 to 0.96). CONCLUSION: The mortality rate following initiation of home NIV is high but varies significantly according to underlying aetiology of respiratory failure. In patients with chronic respiratory failure, initiation of home NIV following an acute admission and low levels of NIV adherence are poor prognostic features and may be amenable to intervention.


Assuntos
Obstrução das Vias Respiratórias/mortalidade , Serviços de Assistência Domiciliar , Hipoventilação/mortalidade , Doenças Neuromusculares/mortalidade , Ventilação não Invasiva , Apneia Obstrutiva do Sono/mortalidade , Obstrução das Vias Respiratórias/fisiopatologia , Feminino , França/epidemiologia , Humanos , Hipoventilação/fisiopatologia , Masculino , Pessoa de Meia-Idade , Doenças Neuromusculares/fisiopatologia , Estudos Prospectivos , Testes de Função Respiratória , Apneia Obstrutiva do Sono/fisiopatologia , Análise de Sobrevida , Reino Unido/epidemiologia
13.
Pan Afr Med J ; 37: 6, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32983324

RESUMO

A vaccine-derived poliovirus (VDPV) was isolated in an acute flaccid paralysis (AFP) case reported from Ile-Ife, in Osun state, Southwest Nigeria. We investigated the epidemiological characteristics of the polio event and described the immediate public health response that followed. We interviewed the primary caregiver of the case and conducted active case searches for additional AFP cases in the communities in Ife East Local Government Area (LGA) of Osun state. Stool samples of contacts and non-contacts were collected and sent for laboratory investigation. A public health response with mass supplementary immunization in the affected areas followed immediately in the ward the case was located in October 2015. Also, we reviewed the administrative record of the oral polio vaccine (OPV) coverage in the LGA in the previous four years. The VDPV case was a female, one-month-old child with adequate vaccination history for her age. However, the environment of the child was relatively filthy with inappropriate facilities. Laboratory reports from contact samples were negative for VDPV or any polio isolates. A missed AFP case was found from active case searches and a high proportion of under-five children was immunized with tOPV. The OPV3 administrative coverage in the LGA peaked in 2014 (103%) and dropped in 2015 (67%). Efforts directed toward improving environmental hygiene in households and improving OPV coverage in subsequent routine and supplementary immunization are suggested.


Assuntos
Viroses do Sistema Nervoso Central/diagnóstico , Mielite/diagnóstico , Doenças Neuromusculares/diagnóstico , Poliomielite/prevenção & controle , Vacina Antipólio Oral/administração & dosagem , Poliovirus/isolamento & purificação , Viroses do Sistema Nervoso Central/virologia , Pré-Escolar , Surtos de Doenças , Feminino , Humanos , Lactente , Masculino , Vacinação em Massa/métodos , Mielite/virologia , Doenças Neuromusculares/virologia , Nigéria , Saúde Pública , Vacinação/estatística & dados numéricos
14.
Neurol Sci ; 41(11): 3039-3056, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32935156

RESUMO

COVID-19 is caused by the coronavirus SARS-CoV-2 that has an affinity for neural tissue. There are reports of encephalitis, encephalopathy, cranial neuropathy, Guillain-Barrè syndrome, and myositis/rhabdomyolysis in patients with COVID-19. In this review, we focused on the neuromuscular manifestations of SARS-CoV-2 infection. We analyzed all published reports on SARS-CoV-2-related peripheral nerve, neuromuscular junction, muscle, and cranial nerve disorders. Olfactory and gustatory dysfunction is now accepted as an early manifestation of COVID-19 infection. Inflammation, edema, and axonal damage of olfactory bulb have been shown in autopsy of patients who died of COVID-19. Olfactory pathway is suggested as a portal of entry of SARS-CoV-2 in the brain. Similar to involvement of olfactory bulb, isolated oculomotor, trochlear and facial nerve has been described. Increasing reports Guillain-Barrè syndrome secondary to COVID-19 are being published. Unlike typical GBS, most of COVID-19-related GBS were elderly, had concomitant pneumonia or ARDS, more prevalent demyelinating neuropathy, and relatively poor outcome. Myalgia is described among the common symptoms of COVID-19 after fever, cough, and sore throat. Duration of myalgia may be related to the severity of COVID-19 disease. Few patients had muscle weakness and elevated creatine kinase along with elevated levels of acute-phase reactants. All these patients with myositis/rhabdomyolysis had severe respiratory complications related to COVID-19. A handful of patients with myasthenia gravis showed exacerbation of their disease after acquiring COVID-19 disease. Most of these patients recovered with either intravenous immunoglobulins or steroids.


Assuntos
Infecções por Coronavirus/complicações , Doenças Neuromusculares/virologia , Pneumonia Viral/complicações , Adolescente , Idoso , Betacoronavirus , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias
17.
Rev. neurol. (Ed. impr.) ; 71(5): 191-196, 1 sept., 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-195469

RESUMO

El estrés que la pandemia de coronavirus ha producido en los servicios sanitarios, y la interferencia que ha ocasionado en la atención al resto de patologías y su seguimiento en consultas nos han llevado a impulsar e incorporar la telemedicina en nuestra práctica médica habitual. La telemedicina es la asistencia médica a distancia o no presencial, un nuevo método de administrar atención médica por parte de profesionales acreditados, que optimiza los recursos y aumenta su alcance. Un inconveniente para la teleneurología infantil es la necesidad para nuestros diagnósticos de una observación directa del niño y de una exploración en forma de juego. Principalmente en las etapas más infantiles, un paciente nuevo evaluado por telemedicina puede ser más difícil de diagnosticar y manejar y, por ello, algunos neuropediatras han optado por realizar sólo visitas de seguimiento, de manejo de medicamentos y de revisión de resultados. Pero la telemedicina tiene otros muchos beneficios: posibilidad de asesoramiento rápido, de coordinación interprofesional y de llegar donde y cuando la medicina clásica lo tiene más difícil. El objetivo de este artículo es revisar las posibles indicaciones de la telemedicina en neurología infantil, partiendo de la base de que nunca deberíamos demorar el diagnóstico de lo que tenga tratamiento, tanto en el momento actual como en una eventual situación de rebrote de la pandemia. El avance de la telemedicina dependerá de la implementación tecnológica, de resolver los problemas legales y de seguridad/privacidad, de sus resultados clínicos, y de la demanda y aceptación por los pacientes de estas visitas virtuales


The stress that the coronavirus pandemic has produced on the health services and the disruption it has caused in the care of other pathologies and their follow-up in outpatient visits have led us to promote and incorporate telemedicine in our routine medical practice. Telemedicine refers to remote or non-face-to-face medical attention, a new method of administering medical care by accredited professionals, which optimises resources and increases their scope. One drawback for child teleneurology is that our diagnoses require direct observation of the child and carrying out an examination as though playing a game. Mainly in the youngest stages, a new patient evaluated by telemedicine can be more difficult to diagnose and manage, and therefore some neuropaediatricians have chosen to carry out only follow-up visits, medication management and outcome reviews. Telemedicine, however, also has many benefits, such as the possibility of giving rapid advice, coordination among professionals and reaching the patient where and when it is difficult for classical medicine to do so. The aim of this article is to review the possible indications of telemedicine in child neurology, starting out from the fact that we should never delay the diagnosis of something that can be treated, both at the present time and in an eventual situation of resurgence of the pandemic. The advance of telemedicine will depend on the implementation of technology, on solving legal and security/privacy issues, on its clinical outcomes and on the extent to which patients demand and accept these virtual visits


Assuntos
Humanos , Criança , Consulta Remota/métodos , Telemedicina/métodos , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/terapia , Assistência à Saúde/organização & administração , Epilepsia/terapia , Cefaleia/terapia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtornos do Sono-Vigília/terapia , Doenças Neuromusculares , Paralisia Cerebral
18.
Rev. neurol. (Ed. impr.) ; 71(6): 221-224, 16 sept., 2020. graf
Artigo em Espanhol | IBECS | ID: ibc-195515

RESUMO

INTRODUCCIÓN: El síndrome miasténico congénito de canal lento, o síndrome de canales lentos, es un trastorno neuromuscular progresivo hereditario, autosómico dominante, causado por una activación anormal de los receptores de la acetilcolina en la unión neuromuscular. La alteración histopatológica característica es la degeneración selectiva de la placa terminal y la membrana postsináptica debido a la sobrecarga de calcio. La piridostigmina debe evitarse en este síndrome, y la quinidina o la fluoxetina son las terapias recomendadas actualmente. CASO CLÍNICO: Niña de 11 años con un fenotipo de cinturas de síndrome miasténico congénito de canal lento que presenta debilidad y fatiga lentamente progresivas desde los 8 años. Tras un empeoramiento clínico con piridostigmina, iniciado empíricamente antes de que los resultados de la secuenciación del exoma estuvieran disponibles, se observó una respuesta espectacular y sostenida con efedrina en monoterapia. La secuenciación del exoma reveló una mutación heterocigota de novo en el gen CHRNB1: c.865G>A; p.Val289Met (NM_000747.2). El estudio electromiográfico con estimulación repetitiva en el nervio peroneo mostró una disminución anormal en la amplitud (23,9%) y también la génesis de un segundo potencial de acción muscular compuesto más pequeño después del pico de la onda M principal en los nervios motores mediano, cubital y peroneo. CONCLUSIÓN: Aunque se han documentado respuestas favorables a agonistas adrenérgicos en asociación con la fluoxetina, ésta representa la primera aportación que documenta una respuesta clínica relevante con efedrina en monoterapia en un paciente con síndrome miasténico congénito de canal lento. Los agonistas adrenérgicos pueden considerarse una opción terapéutica en pacientes con este síndrome


INTRODUCTION: Slow-channel congenital myasthenic syndrome is an autosomal dominant inherited progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors in the neuromuscular junction. Its pathological hallmark is selective degeneration of the endplate and postsynaptic membrane due to calcium overload. Pyridostigmine should be avoided in this syndrome, being quinidine or fluoxetine the current recommended therapies. CASE REPORT: An 11-year-old girl with a limb-girdle phenotype of slow-channel congenital myasthenic syndrome presenting with a slowly progressive fatigable weakness at the age of 8 years. After a clinical worsening with pyridostigmine, empirically started before the exome sequencing results were available, a dramatic and sustained response to ephedrine monotherapy was observed. Whole exome sequencing revealed a de novo heterozygous mutation in CHRNB1 gene: c.865G>A; p.Val289Met (NM_000747.2). An abnormal decrement in amplitude (23.9%) from the first to fifth intravollley waveform was revealed after repetitive peroneal nerve stimulation at low frequencies. In addition, a second smaller compound muscle action potential after the peak of the main M-wave in median, ulnar and peroneal motor nerves was observed. CONCLUSION: Favorable responses to adrenergic agonists added to fluoxetine had been reported. However, to the best of our knowledge this is the first report on effective monotherapy with ephedrine in a slow-channel congenital myasthenic syndrome patient. Adrenergic agonists may be considered as a therapeutic option in patients with this syndrome


Assuntos
Humanos , Feminino , Criança , Síndromes Miastênicas Congênitas/diagnóstico , Síndromes Miastênicas Congênitas/tratamento farmacológico , Efedrina/administração & dosagem , Fadiga/diagnóstico , Doenças da Junção Neuromuscular/complicações , Fadiga Muscular/efeitos dos fármacos , Progressão da Doença , Predisposição Genética para Doença/genética , Doenças Neuromusculares/tratamento farmacológico , Doenças da Junção Neuromuscular/tratamento farmacológico , Sequenciamento Completo do Exoma , Eletromiografia , Agonistas Adrenérgicos/administração & dosagem , Fluoxetina/administração & dosagem , Fadiga Muscular/genética
19.
Nat Commun ; 11(1): 4625, 2020 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-32934225

RESUMO

A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized protein quality control pathway-Ribosome-associated Quality Control (RQC)-by mediating proteolytic targeting of incomplete polypeptides produced by ribosome stalling, and Ltn1 mutation leads to neurodegeneration in mice. Whether neurodegeneration results from defective RQC and whether defective RQC contributes to human disease have remained unknown. Here we show that three independently-generated mouse models with mutations in a different component of the RQC complex, NEMF/Rqc2, develop progressive motor neuron degeneration. Equivalent mutations in yeast Rqc2 selectively interfere with its ability to modify aberrant translation products with C-terminal tails which assist with RQC-mediated protein degradation, suggesting a pathomechanism. Finally, we identify NEMF mutations expected to interfere with function in patients from seven families presenting juvenile neuromuscular disease. These uncover NEMF's role in translational homeostasis in the nervous system and implicate RQC dysfunction in causing neurodegeneration.


Assuntos
Doenças Neuromusculares/metabolismo , Ribossomos/metabolismo , Sequência de Aminoácidos , Animais , Feminino , Humanos , Masculino , Camundongos , Camundongos Knockout , Mutação , Doenças Neuromusculares/genética , Doenças Neuromusculares/patologia , Proteólise , Proteínas de Ligação a RNA/química , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/metabolismo , Ribossomos/genética , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo , Proteínas de Saccharomyces cerevisiae/química , Proteínas de Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/metabolismo , Alinhamento de Sequência
20.
PLoS One ; 15(9): e0239329, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32946487

RESUMO

The genetic diagnostics of inherited neuromuscular diseases (NMDs) is challenging due to their clinical and genetic heterogeneity. We launched an online survey within the EURO-NMD European Reference Network (ERN) to collect information about the availability/distribution of genetic testing across 61 ERN health care providers (HCPs). A 17 items questionnaire was designed to address methods used, the number of genetic tests available, the clinical pathway to access genetic testing, the use of next-generation sequencing (NGS) and participation to quality assessment schemes (QAs). A remarkable number of HCPs (49%) offers ≥ 500 genetic tests per year, 43,6% offers 100-500 genetic tests per year, and 7,2% ≤ 100 per year. NGS is used by 94% of centres, Sanger sequencing by 84%, MLPA by 66% and Southern blotting by 36%. The majority of centres (60%) offer NGS for all patients that fulfil criteria for NMD of genetic origin. Pipelines for NGS vary amongst centres, even within the same national system. Referral of patients to genetic laboratories by specialists was frequently reported (58%), and 65% of centres participates in genetic testing QAs. We specifically evaluated how many centres cover SMA, DMD, Pompe, LGMDs, and TTR genes/diseases genetic diagnosis, since these rare diseases benefit from personalised therapies. We used the Orphanet EUGT numbers, provided by 82% of HCPs. SMA, DMD, LGMD, TTR and GAA genes are covered by EUGTs although with different numbers and modalities. The number of genetic tests for NMDs offered across HCPs National Health systems is quite high, including routine techniques and NGS. The number and type of tests offered and the clinical practices differ among centres. We provided evidence that survey tools might be useful to learn about the state-of-the-art of ERN health-related activities and to foster harmonisation and standardisation of the complex care for the rare disease patients in the EU.


Assuntos
Testes Genéticos , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/genética , Inquéritos e Questionários , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Achados Incidentais
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA