Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.326
Filtrar
1.
Int J Mol Sci ; 22(16)2021 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-34445074

RESUMO

Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5'-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic effects that lead to a variety of Fragile X-associated syndromes: the neurodevelopmental Fragile X syndrome (FXS) in children, the late-onset neurodegenerative disorder Fragile X-associated tremor-ataxia syndrome (FXTAS) that mainly affects adult men, the Fragile X-associated primary ovarian insufficiency (FXPOI) in adult women, and a variety of psychiatric and affective disorders that are under the term of Fragile X-associated neuropsychiatric disorders (FXAND). In this review, we will describe the pathological mechanisms of the adult "gain-of-function" syndromes that are mainly caused by the toxic actions of CGG RNA and FMRpolyG peptide. There have been intensive attempts to identify reliable peripheral biomarkers to assess disease progression and onset of specific pathological traits. Mitochondrial dysfunction, altered miRNA expression, endocrine system failure, and impairment of the GABAergic transmission are some of the affectations that are susceptible to be tracked using peripheral blood for monitoring of the motor, cognitive, psychiatric and reproductive impairment of the CGG-expansion carriers. We provided some illustrative examples from our own cohort. Understanding the association between molecular pathogenesis and biomarkers dynamics will improve effective prognosis and clinical management of CGG-expansion carriers.


Assuntos
Ataxia/patologia , Síndrome do Cromossomo X Frágil/patologia , Insuficiência Ovariana Primária/patologia , Tremor/patologia , Adulto , Animais , Ataxia/genética , Ataxia/fisiopatologia , Feminino , Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/fisiopatologia , Regulação da Expressão Gênica , Humanos , Masculino , MicroRNAs/genética , Mitocôndrias/genética , Mitocôndrias/patologia , Insuficiência Ovariana Primária/genética , Insuficiência Ovariana Primária/fisiopatologia , Tremor/genética , Tremor/fisiopatologia , Expansão das Repetições de Trinucleotídeos
2.
J Sports Sci ; 39(sup1): 62-72, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34092196

RESUMO

The current protocol for classifying Para swimmers with hypertonia, ataxia and athetosis involves a physical assessment where the individual's ability to coordinate their limbs is scored by subjective clinical judgment. The lack of objective measurement renders the current test unsuitable for evidence-based classification. This study evaluated a revised version of the Para swimming assessment for motor coordination, incorporating practical, objective measures of movement smoothness, rhythm error and accuracy. Nineteen Para athletes with hypertonia and 19 non-disabled participants performed 30 s trials of bilateral alternating shoulder flexion-extension at 30 bpm and 120 bpm. Accelerometry was used to quantify movement smoothness; rhythm error and accuracy were obtained from video. Para athletes presented significantly less smooth movement and higher rhythm error than the non-disabled participants (p < 0.05). Random forest algorithm successfully classified 89% of participants with hypertonia during out-of-bag predictions. The most important predictors in classifying participants were movement smoothness at both movement speeds, and rhythm error at 120 bpm. Our results suggest objective measures of movement smoothness and rhythm error included in the current motor coordination test protocols can be used to infer impairment in Para swimmers with hypertonia. Further research is merited to establish the relationship of these measures with swimming performance.


Assuntos
Paralisia Cerebral/fisiopatologia , Hipertonia Muscular/fisiopatologia , Desempenho Psicomotor/fisiologia , Esportes para Pessoas com Deficiência/fisiologia , Natação/fisiologia , Acelerometria , Adulto , Algoritmos , Ataxia/fisiopatologia , Atetose/fisiopatologia , Desempenho Atlético/fisiologia , Fenômenos Biomecânicos/fisiologia , Feminino , Humanos , Masculino , Movimento/fisiologia , Hipertonia Muscular/classificação , Paratletas/classificação , Desempenho Físico Funcional , Amplitude de Movimento Articular/fisiologia , Ombro/fisiologia , Esportes para Pessoas com Deficiência/classificação , Natação/classificação , Gravação em Vídeo , Adulto Jovem
3.
J Sports Sci ; 39(sup1): 140-149, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33525957

RESUMO

Impaired coordination is a characteristic feature in cerebral palsy (CP) football players. This study aimed to determine the relationships of three coordination tests with match physical load during competition of para-footballers from different sport classes. Records from 259 para-footballers from 25 national teams were obtained in four international competitions held in 2018 and 2019. The three coordination tests were conducted prior to competition (i.e., rapid heel-toe, side-stepping, and split jumps), and physical match load was recorded by GPS devices during the real game: i.e., maximum/mean, total distance, distance covered at different speed zones, number of accelerations/decelerations at different intensities, and player load. FT1 and FT3 players have the lowest and highest performance in all the coordination tests, respectively, but inconclusive between-groups differences were obtained (p=0.022‒0.238). Split jumps and side-stepping tests are associated with the performance of moderate and high accelerations during competition (r = -0.20‒0.71; p<0.01). Significant correlations (r = 0.36‒0.71; p<0.01) were obtained between all the coordination measures. Coordination tests better discriminate those with more severe impairments and some evidence for the validity of the new CP football sport classes is provided. Further research is necessary to identify the portion of the variance in sports performance that coordination explains.


Assuntos
Ataxia/fisiopatologia , Desempenho Atlético/fisiologia , Paralisia Cerebral/fisiopatologia , Paratletas , Futebol/fisiologia , Esportes para Pessoas com Deficiência/fisiologia , Aceleração , Adulto , Análise de Variância , Ataxia/classificação , Desempenho Atlético/classificação , Paralisia Cerebral/classificação , Estudos Transversais , Desaceleração , Sistemas de Informação Geográfica , Humanos , Internacionalidade , Extremidade Inferior/fisiopatologia , Movimento/fisiologia , Futebol/classificação , Futebol/estatística & dados numéricos , Esportes para Pessoas com Deficiência/classificação , Adulto Jovem
4.
J Sports Sci ; 39(sup1): 132-139, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33541213

RESUMO

This study examined the relationship between proximal arm strength and mobility performance in wheelchair rugby (WR) athletes and examined whether a valid structure for classifying proximal arm strength impairment could be determined. Fifty-seven trained WR athletes with strength impaired arms and no trunk function performed six upper body isometric strength tests and three 10 m sprints in their rugby wheelchair. All strength measures correlated with 2 m and 10 m sprint times (r ≥ -0.43; p ≤ 0.0005) and were entered into k-means cluster analyses with 4-clusters (to mirror the current International Wheelchair Rugby Federation [IWRF] system) and 3-clusters. The 3-cluster structure provided a more valid structure than both the 4-cluster and existing IWRF system, as evidenced by clearer differences in strength (Effect sizes [ES] ≥ 1.0) and performance (ES ≥ 1.1) between adjacent clusters and stronger mean silhouette coefficient (0.64). Subsequently, the 3-cluster structure for classifying proximal arm strength impairment would result in less overlap between athletes from adjacent classes and reduce the likelihood of athletes being disadvantaged due to their impairment. This study demonstrated that the current battery of isometric strength tests and cluster analyses could facilitate the evidence-based development of classifying proximal arm strength impairment in WR.


Assuntos
Braço/fisiologia , Futebol Americano/fisiologia , Movimento/fisiologia , Força Muscular/fisiologia , Paratletas , Estudo de Prova de Conceito , Adulto , Ataxia/classificação , Ataxia/fisiopatologia , Desempenho Atlético/fisiologia , Análise por Conglomerados , Feminino , Futebol Americano/classificação , Humanos , Contração Isométrica/fisiologia , Masculino , Paratletas/classificação , Valores de Referência , Traumatismos da Medula Espinal/complicações , Esportes para Pessoas com Deficiência/fisiologia , Cadeiras de Rodas
5.
J Sports Sci ; 39(sup1): 91-98, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33593245

RESUMO

This study aims were twofold: (1) to evaluate the construct validity of the Repetitive Movement Test (RMT) a novel test developed for Wheelchair Rugby classification which evaluates arm coordination impairment at five joints - shoulder, elbow, forearm, wrist and fingers - and (2), pending sufficiently positive results, propose objective minimum impairment criteria (MIC). Forty-two WR athletes with an eligible coordination impairment, and 20 volunteers without impairment completed the RMT and two clinically established coordination tests: the finger-nose test (FNT) and the spiral test (ST). Coordination deduction (CD), an ordinal observational coordination scale, currently used in WR classification, was obtained. Spearman-rank correlation coefficients (SCC) between RMT and ST (0.40 to 0.67) and between RMT and CD (0.31 to 0.53) generally supported RMT construct validity, SCC between RMT and FNT were lower (0.12-0.31). When the scores on ST, FNT and RMT from the sample of WR players were compared with the scores from volunteers without impairment, 93.5% to 100% of WR players had scores > 2SD below the mean of volunteers without impairment on the same test. In conclusion, RMT at the elbow, forearm, wrist and fingers have sufficient construct validity for use in WR. MIC were recommended with ST and RMT.


Assuntos
Braço/fisiopatologia , Ataxia/fisiopatologia , Futebol Americano/fisiologia , Articulações/fisiopatologia , Esportes para Pessoas com Deficiência/fisiologia , Adolescente , Adulto , Ataxia/classificação , Desempenho Atlético , Estudos de Casos e Controles , Estudos Transversais , Articulação do Cotovelo/fisiopatologia , Feminino , Articulações dos Dedos/fisiopatologia , Futebol Americano/classificação , Antebraço , Humanos , Masculino , Pessoa de Meia-Idade , Paratletas , Desempenho Psicomotor/fisiologia , Amplitude de Movimento Articular/fisiologia , Reprodutibilidade dos Testes , Articulação do Ombro/fisiopatologia , Esportes para Pessoas com Deficiência/classificação , Estatísticas não Paramétricas , Articulação do Punho/fisiologia , Adulto Jovem
6.
BMC Neurol ; 21(1): 85, 2021 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-33618681

RESUMO

BACKGROUND: The mu-opioid agonist methadone is administered orally and used in opioid detoxification and in the treatment of moderate-to-severe pain. Acute oral methadone-use and -abuse have been associated with inflammatory and toxic central nervous system (CNS) damage in some cases and cognitive deficits can develop in long-term methadone users. In contrast, reports of intravenous methadone adverse effects are rare. CASE PRESENTATION: Here, we report a patient who developed acute bilateral hearing loss, ataxia and paraparesis subsequently to intravenous methadone-abuse. While the patient gradually recovered from these deficits, widespread magnetic resonance imaging changes progressed and delayed-onset encephalopathy with signs of cortical dysfunction persisted. This was associated with changes in the composition of monocyte and natural killer cell subsets in the cerebrospinal fluid. CONCLUSION: This case suggests a potential bi-phasic primary toxic and secondary inflammatory CNS damage induced by intravenous methadone.


Assuntos
Analgésicos Opioides/envenenamento , Ataxia/induzido quimicamente , Encefalopatias/induzido quimicamente , Disfunção Cognitiva/induzido quimicamente , Perda Auditiva Bilateral/induzido quimicamente , Metadona/envenenamento , Paraparesia/induzido quimicamente , Abuso de Substâncias por Via Intravenosa , Administração Intravenosa , Ataxia/fisiopatologia , Encéfalo/diagnóstico por imagem , Encefalopatias/diagnóstico por imagem , Encefalopatias/imunologia , Encefalopatias/fisiopatologia , Edema Encefálico/induzido quimicamente , Edema Encefálico/diagnóstico por imagem , Edema Encefálico/imunologia , Edema Encefálico/fisiopatologia , Disfunção Cognitiva/imunologia , Disfunção Cognitiva/fisiopatologia , Imagem de Difusão por Ressonância Magnética , Perda Auditiva Bilateral/fisiopatologia , Humanos , Inflamação/imunologia , Células Matadoras Naturais/imunologia , Imageamento por Ressonância Magnética , Masculino , Monócitos/imunologia , Síndromes Neurotóxicas/diagnóstico por imagem , Síndromes Neurotóxicas/etiologia , Síndromes Neurotóxicas/imunologia , Síndromes Neurotóxicas/fisiopatologia , Paraparesia/fisiopatologia , Adulto Jovem
7.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33526531

RESUMO

This report describes two patients with acute-onset ptosis, oculomotor dysfunction, ataxia and drowsiness, referable to the midbrain tegmentum. Both patients had previously suffered severe closed head injuries requiring craniotomy for cerebral decompression. Serial brain scans in both cases revealed a newly developing cleft in the midbrain, with features suggestive of abnormal cerebrospinal fluid (CSF) flow across the aqueduct. A trial of acetazolamide was initiated to reduce CSF production, followed by a third ventriculostomy for CSF diversion in one patient, which resulted in arrested disease progression and partial recovery. There are only two previous reports in the literature of midbrain clefts that developed as remote sequelae of head trauma. We postulate that altered CSF flow dynamics in the aqueduct, possibly related to changes in brain compliance, may be contributory. Early recognition and treatment may prevent irreversible structural injury and possible death.


Assuntos
Encefalopatias/diagnóstico por imagem , Lesões Encefálicas Difusas/diagnóstico por imagem , Aqueduto do Mesencéfalo/diagnóstico por imagem , Craniectomia Descompressiva , Traumatismos Cranianos Fechados/cirurgia , Mesencéfalo/diagnóstico por imagem , Acetazolamida/uso terapêutico , Ataxia/fisiopatologia , Blefaroptose , Encefalopatias/fisiopatologia , Encefalopatias/terapia , Lesões Encefálicas Difusas/fisiopatologia , Inibidores da Anidrase Carbônica/uso terapêutico , Líquido Cefalorraquidiano , Progressão da Doença , Disartria/fisiopatologia , Humanos , Hidrodinâmica , Imageamento por Ressonância Magnética , Masculino , Transtornos da Motilidade Ocular/fisiopatologia , Ventriculostomia , Adulto Jovem
8.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33526534

RESUMO

A 73-year-old man who presented with fever and abdominal discomfort was diagnosed to have a liver abscess. He was treated with antimicrobials which included metronidazole. One month into treatment, he developed neurological symptoms and signs that were suggestive of cerebellar pathology. MRI of the brain showed T2/fluid attenuated inversion recovery hyperintensities involving bilateral dentate, fastigial and interpositus nuclei. After excluding common aetiologies, the possibility of metronidazole-induced neurotoxicity was considered. After stopping metronidazole, his symptoms and signs resolved. A subsequent MRI scan of the brain showed reversal of changes. Neurotoxicity caused by metronidazole is an uncommon adverse effect of a commonly used antimicrobial drug and should be considered in the appropriate clinical scenario.


Assuntos
Antibacterianos/efeitos adversos , Doenças Cerebelares/induzido quimicamente , Núcleos Cerebelares/diagnóstico por imagem , Abscesso Hepático/tratamento farmacológico , Metronidazol/efeitos adversos , Idoso , Ataxia/induzido quimicamente , Ataxia/fisiopatologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/fisiopatologia , Duração da Terapia , Disartria/induzido quimicamente , Disartria/fisiopatologia , Humanos , Abscesso Hepático/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Síndromes Neurotóxicas/diagnóstico por imagem , Síndromes Neurotóxicas/etiologia
9.
Theranostics ; 11(1): 346-360, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33391479

RESUMO

Rationale: Traumatic brain injury (TBI) leads to neurological impairment, with no satisfactory treatments available. Classical ketogenic diets (KD), which reduce reliance on carbohydrates and provide ketones as fuel, have neuroprotective potential, but their high fat content reduces compliance, and experimental evidence suggests they protect juvenile brain against TBI, but not adult brain, which would strongly limit their applicability in TBI. Methods: We designed a new-KD with a fat to carbohydrate plus protein ratio of 2:1, containing medium chain triglycerides (MCT), docosahexaenoic acid (DHA), low glycaemic index carbohydrates, fibres and the ketogenic amino acid leucine, and evaluated its neuroprotective potential in adult TBI. Adult male C57BL6 mice were injured by controlled cortical impact (CCI) and assessed for 70 days, during which they received a control diet or the new-KD. Results: The new-KD, that markedly increased plasma Beta-hydroxybutyrate (ß-HB), significantly attenuated sensorimotor deficits and corrected spatial memory deficit. The lesion size, perilesional inflammation and oxidation were markedly reduced. Oligodendrocyte loss appeared to be significantly reduced. TBI activated the mTOR pathway and the new-KD enhanced this increase and increased histone acetylation and methylation. Conclusion: The behavioural improvement and tissue protection provide proof of principle that this new formulation has therapeutic potential in adult TBI.


Assuntos
Lesões Encefálicas Traumáticas/dietoterapia , Encéfalo/patologia , Dieta Cetogênica/métodos , Memória Espacial , Ácido 3-Hidroxibutírico/sangue , Acetilação , Animais , Ataxia/fisiopatologia , Encéfalo/metabolismo , Lesões Encefálicas Traumáticas/metabolismo , Lesões Encefálicas Traumáticas/patologia , Lesões Encefálicas Traumáticas/fisiopatologia , Carboidratos da Dieta , Gorduras na Dieta , Fibras na Dieta , Proteínas na Dieta , Modelos Animais de Doenças , Ácidos Docosa-Hexaenoicos , Epigênese Genética , Índice Glicêmico , Código das Histonas , Inflamação/metabolismo , Inflamação/patologia , Coxeadura Animal/fisiopatologia , Leucina , Masculino , Metilação , Camundongos , Teste do Labirinto Aquático de Morris , Oligodendroglia/patologia , Paresia/fisiopatologia , Equilíbrio Postural , Teste de Desempenho do Rota-Rod , Transtornos das Sensações/fisiopatologia , Transdução de Sinais , Serina-Treonina Quinases TOR , Triglicerídeos
10.
J Stroke Cerebrovasc Dis ; 30(4): 105631, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33508726

RESUMO

OBJECTIVES: This study examines the prognostic validity of the Scale for the Assessment and Rating of Ataxia for patients with acute stroke. MATERIALS AND METHODS: We enrolled 120 patients with posterior circulation stroke having ischemic or hemorrhagic lesions with ataxia who had physical therapy. We recorded the clinical stroke features and obtained the scale for the assessment and rating of ataxia and National Institutes of Health Stroke Scale scores 7 days after admission and at discharge. Predictive factors for a 3-month modified Rankin Scale score of <3 were investigated. RESULTS: During hospitalization, the Scale for the Assessment and Rating of Ataxia score decreased from 7.5 (interquartile range, 4.5-12.5) to 4.0 (interquartile range, 1.5-8.0) points, whereas the National Institutes of Health Stroke Scale score changed from 1 (interquartile range, 0-3) to 1 (interquartile range, 0-2) point. A significant correlation between functional outcome and the Scale for the Assessment and Rating of Ataxia scores 7 days after onset was observed. The cutoff value for the assessment and rating of ataxia for predicting favorable outcome (modified Rankin scale, 0-2) at 3 months post-onset was 14 points (0-40) at 7 days after onset. CONCLUSIONS: The Scale for the Assessment and Rating of Ataxia scores showed good responsiveness to neurological changes in patients with acute ataxic stroke, could predict functional outcomes 3 months after onset on day 7, and could be a useful and reliable marker for patients with ataxic stroke.


Assuntos
Ataxia/diagnóstico , Avaliação da Deficiência , Estado Funcional , Indicadores Básicos de Saúde , Atividade Motora , Acidente Vascular Cerebral/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Ataxia/fisiopatologia , Ataxia/reabilitação , Feminino , Humanos , Masculino , Modalidades de Fisioterapia , Valor Preditivo dos Testes , Recuperação de Função Fisiológica , Reprodutibilidade dos Testes , Estudos Retrospectivos , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/terapia , Reabilitação do Acidente Vascular Cerebral , Fatores de Tempo , Resultado do Tratamento
11.
Neurology ; 96(11): e1527-e1538, 2021 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-33443111

RESUMO

OBJECTIVE: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is protean in its manifestations, affecting nearly every organ system. However, nervous system involvement and its effect on disease outcome are poorly characterized. The objective of this study was to determine whether neurologic syndromes are associated with increased risk of inpatient mortality. METHODS: A total of 581 hospitalized patients with confirmed SARS-CoV-2 infection, neurologic involvement, and brain imaging were compared to hospitalized non-neurologic patients with coronavirus disease 2019 (COVID-19). Four patterns of neurologic manifestations were identified: acute stroke, new or recrudescent seizures, altered mentation with normal imaging, and neuro-COVID-19 complex. Factors present on admission were analyzed as potential predictors of in-hospital mortality, including sociodemographic variables, preexisting comorbidities, vital signs, laboratory values, and pattern of neurologic manifestations. Significant predictors were incorporated into a disease severity score. Patients with neurologic manifestations were matched with patients of the same age and disease severity to assess the risk of death. RESULTS: A total of 4,711 patients with confirmed SARS-CoV-2 infection were admitted to one medical system in New York City during a 6-week period. Of these, 581 (12%) had neurologic issues of sufficient concern to warrant neuroimaging. These patients were compared to 1,743 non-neurologic patients with COVID-19 matched for age and disease severity admitted during the same period. Patients with altered mentation (n = 258, p = 0.04, odds ratio [OR] 1.39, confidence interval [CI] 1.04-1.86) or radiologically confirmed stroke (n = 55, p = 0.001, OR 3.1, CI 1.65-5.92) had a higher risk of mortality than age- and severity-matched controls. CONCLUSIONS: The incidence of altered mentation or stroke on admission predicts a modest but significantly higher risk of in-hospital mortality independent of disease severity. While other biomarker factors also predict mortality, measures to identify and treat such patients may be important in reducing overall mortality of COVID-19.


Assuntos
COVID-19/mortalidade , Confusão/fisiopatologia , Transtornos da Consciência/fisiopatologia , Mortalidade Hospitalar , Acidente Vascular Cerebral/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Ageusia/epidemiologia , Ageusia/fisiopatologia , Anosmia/epidemiologia , Anosmia/fisiopatologia , Ataxia/epidemiologia , Ataxia/fisiopatologia , COVID-19/fisiopatologia , Confusão/epidemiologia , Transtornos da Consciência/epidemiologia , Doenças dos Nervos Cranianos/epidemiologia , Doenças dos Nervos Cranianos/fisiopatologia , Delírio/epidemiologia , Delírio/fisiopatologia , Feminino , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Parestesia/epidemiologia , Parestesia/fisiopatologia , Disautonomias Primárias/epidemiologia , Disautonomias Primárias/fisiopatologia , Recidiva , SARS-CoV-2 , Convulsões/epidemiologia , Convulsões/fisiopatologia , Acidente Vascular Cerebral/epidemiologia , Vertigem/epidemiologia , Vertigem/fisiopatologia
12.
J Neurovirol ; 27(1): 26-34, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33492608

RESUMO

Opsoclonus-myoclonus-ataxia syndrome is a heterogeneous constellation of symptoms ranging from full combination of these three neurological findings to varying degrees of isolated individual sign. Since the emergence of coronavirus disease 2019 (COVID-19), neurological symptoms, syndromes, and complications associated with this multi-organ viral infection have been reported and the various aspects of neurological involvement are increasingly uncovered. As a neuro-inflammatory disorder, one would expect to observe opsoclonus-myoclonus syndrome after a prevalent viral infection in a pandemic scale, as it has been the case for many other neuro-inflammatory syndromes. We report seven cases of opsoclonus-myoclonus syndrome presumably parainfectious in nature and discuss their phenomenology, their possible pathophysiological relationship to COVID-19, and diagnostic and treatment strategy in each case. Finally, we review the relevant data in the literature regarding the opsoclonus-myoclonus syndrome and possible similar cases associated with COVID-19 and its diagnostic importance for clinicians in various fields of medicine encountering COVID-19 patients and its complications.


Assuntos
Ataxia/fisiopatologia , COVID-19/fisiopatologia , Tosse/fisiopatologia , Febre/fisiopatologia , Mialgia/fisiopatologia , Síndrome de Opsoclonia-Mioclonia/fisiopatologia , SARS-CoV-2/patogenicidade , Adulto , Anticonvulsivantes/uso terapêutico , Ataxia/diagnóstico por imagem , Ataxia/tratamento farmacológico , Ataxia/etiologia , Azitromicina/uso terapêutico , COVID-19/complicações , COVID-19/diagnóstico por imagem , COVID-19/tratamento farmacológico , Clonazepam/uso terapêutico , Tosse/diagnóstico por imagem , Tosse/tratamento farmacológico , Tosse/etiologia , Dispneia/diagnóstico por imagem , Dispneia/tratamento farmacológico , Dispneia/etiologia , Dispneia/fisiopatologia , Feminino , Febre/diagnóstico por imagem , Febre/tratamento farmacológico , Febre/etiologia , Humanos , Hidroxicloroquina/uso terapêutico , Levetiracetam/uso terapêutico , Masculino , Pessoa de Meia-Idade , Mialgia/diagnóstico por imagem , Mialgia/tratamento farmacológico , Mialgia/etiologia , Síndrome de Opsoclonia-Mioclonia/diagnóstico por imagem , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Síndrome de Opsoclonia-Mioclonia/etiologia , Oseltamivir/uso terapêutico , SARS-CoV-2/efeitos dos fármacos , Ácido Valproico/uso terapêutico
14.
Neurology ; 96(5): 214-225, 2021 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-33277411

RESUMO

Monoclonal gammopathy is encountered quite frequently in the general population. This type of hematologic abnormality may be mild, referred to as monoclonal gammopathy of undetermined significance or related to different types of hematologic malignancies. The association of a peripheral neuropathy with monoclonal gammopathy is also fairly common, and hemopathy may be discovered in an investigation of peripheral neuropathy. In such a situation, it is essential to determine the exact nature of the hematologic process in order not to miss a malignant disease and thus initiate the appropriate treatment (in conjunction with hematologists and oncologists). In this respect, nerve biopsy (discussed on a case-by-case basis) is of great value in the management of such patients. We therefore propose to present the objectives and main interests of nerve biopsy in this situation.


Assuntos
Paraproteinemias/fisiopatologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/etiologia , Anemia Hemolítica Autoimune/patologia , Anemia Hemolítica Autoimune/fisiopatologia , Ataxia/diagnóstico , Ataxia/etiologia , Ataxia/patologia , Ataxia/fisiopatologia , Autoanticorpos/imunologia , Biópsia , Árvores de Decisões , Eletrodiagnóstico , Humanos , Imunoglobulina A , Imunoglobulina G , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Amiloidose de Cadeia Leve de Imunoglobulina/fisiopatologia , Imunoglobulina M , Gamopatia Monoclonal de Significância Indeterminada , Glicoproteína Associada a Mielina/imunologia , Condução Nervosa/fisiologia , Oftalmoplegia/diagnóstico , Oftalmoplegia/etiologia , Oftalmoplegia/patologia , Oftalmoplegia/fisiopatologia , Síndrome POEMS/diagnóstico , Síndrome POEMS/etiologia , Síndrome POEMS/patologia , Síndrome POEMS/fisiopatologia , Paraproteinemias/complicações , Paraproteinemias/diagnóstico , Nervos Periféricos/patologia , Nervos Periféricos/ultraestrutura , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/patologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/etiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/patologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/fisiopatologia , Disautonomias Primárias/diagnóstico , Disautonomias Primárias/etiologia , Disautonomias Primárias/patologia , Disautonomias Primárias/fisiopatologia , Neuropatia de Pequenas Fibras/diagnóstico , Neuropatia de Pequenas Fibras/etiologia , Neuropatia de Pequenas Fibras/patologia , Neuropatia de Pequenas Fibras/fisiopatologia , Macroglobulinemia de Waldenstrom
16.
Ann Neurol ; 89(2): 315-326, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33201528

RESUMO

OBJECTIVE: This study was undertaken to gain insights into structural networks associated with stimulation-induced dysarthria (SID) and to predict stimulation-induced worsening of intelligibility in essential tremor patients with bilateral thalamic deep brain stimulation (DBS). METHODS: Monopolar reviews were conducted in 14 essential tremor patients. Testing included determination of SID thresholds, intelligibility ratings, and a fast syllable repetition task. Volumes of tissue activated (VTAs) were calculated to identify discriminative fibers for stimulation-induced worsening of intelligibility in a structural connectome. The resulting fiber-based atlas structure was then validated in a leave-one-out design. RESULTS: Fibers determined as discriminative for stimulation-induced worsening of intelligibility were mainly connected to the ipsilateral precentral gyrus as well as to both cerebellar hemispheres and the ipsilateral brain stem. In the thalamic area, they ran laterally to the thalamus and posteromedially to the subthalamic nucleus, in close proximity, mainly anterolaterally, to fibers beneficial for tremor control as published by Al-Fatly et al in 2019. The overlap of the respective clinical stimulation setting's VTAs with these fibers explained 62.4% (p < 0.001) of the variance of stimulation-induced change in intelligibility in a leave-one-out analysis. INTERPRETATION: This study demonstrates that SID in essential tremor patients is associated with both motor cortex and cerebellar connectivity. Furthermore, the identified fiber-based atlas structure might contribute to future postoperative programming strategies to achieve optimal tremor control without speech impairment in essential tremor patients with thalamic DBS. ANN NEUROL 2021;89:315-326.


Assuntos
Cerebelo/fisiopatologia , Estimulação Encefálica Profunda/efeitos adversos , Disartria/etiologia , Tremor Essencial/terapia , Córtex Motor/fisiopatologia , Inteligibilidade da Fala , Idoso , Ataxia/fisiopatologia , Conectoma , Disartria/diagnóstico por imagem , Disartria/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Contração Muscular/fisiologia , Vias Neurais/fisiopatologia , Núcleos Ventrais do Tálamo
17.
Ann Neurol ; 89(2): 402-407, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33085104

RESUMO

Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A > G variant affecting a splice site in SLC7A6OS. Analysis of cDNA from lymphoblastoid cells demonstrated partial splice site abolition and the creation of an abnormal isoform. Quantitative reverse transcriptase polymerase chain reaction and Western blot showed a marked reduction of protein expression. Haplotype analysis identified a ~0.85cM shared genomic region on chromosome 16q encompassing the c.191A > G variant, consistent with a distant ancestor common to both families. Our results suggest that biallelic loss-of-function variants in SLC7A6OS are a novel genetic cause of progressive myoclonus epilepsy. ANN NEUROL 2021;89:402-407.


Assuntos
Epilepsias Mioclônicas Progressivas/genética , Peptídeo Hidrolases/genética , Sítios de Splice de RNA/genética , Adolescente , Ataxia/genética , Ataxia/fisiopatologia , Atrofia , Western Blotting , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Disfunção Cognitiva/genética , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/psicologia , DNA Complementar , Eletroencefalografia , Feminino , Homozigoto , Humanos , Mutação com Perda de Função , Imageamento por Ressonância Magnética , Masculino , Epilepsias Mioclônicas Progressivas/diagnóstico por imagem , Epilepsias Mioclônicas Progressivas/fisiopatologia , Epilepsias Mioclônicas Progressivas/psicologia , Linhagem , Peptídeo Hidrolases/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Adulto Jovem
18.
J Sports Sci ; 39(sup1): 159-166, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33337948

RESUMO

RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled frame that has a saddle, handle bars and a chest plate. For RaceRunning to be included as a para athletics event, an evidence-based classification system is required. This study assessed the impact of trunk control and lower limb impairment measures on RaceRunning performance and evaluated whether cluster analysis of these impairment measures produces a valid classification structure for RaceRunning. The Trunk Control Measurement Scale (TCMS), Selective Control Assessment of the Lower Extremity (SCALE), the Australian Spasticity Assessment Scale (ASAS), and knee extension were recorded for 26 RaceRunning athletes. Thirteen male and 13 female athletes aged 24 (SD = 7) years participated. All impairment measures were significantly correlated with performance (rho = 0.55-0.74). Using ASAS, SCALE, TCMS and knee extension as cluster variables in a two-step cluster analysis resulted in two clusters of athletes. Race speed and the impairment measures were significantly different between the clusters (p < 0.001). The findings of this study provide evidence for the utility of the selected impairment measures in an evidence-based classification system for RaceRunning athletes.


Assuntos
Ataxia/classificação , Atetose/classificação , Hipertonia Muscular/classificação , Corrida/classificação , Esportes para Pessoas com Deficiência/classificação , Tronco/fisiopatologia , Adolescente , Adulto , Ataxia/fisiopatologia , Atetose/fisiopatologia , Desempenho Atlético , Lesão Encefálica Crônica/classificação , Lesão Encefálica Crônica/fisiopatologia , Paralisia Cerebral/classificação , Paralisia Cerebral/fisiopatologia , Análise por Conglomerados , Desenho de Equipamento , Feminino , Humanos , Articulação do Joelho/fisiopatologia , Extremidade Inferior/fisiopatologia , Masculino , Hipertonia Muscular/fisiopatologia , Espasticidade Muscular/classificação , Espasticidade Muscular/fisiopatologia , Força Muscular , Amplitude de Movimento Articular/fisiologia , Corrida/fisiologia , Equipamentos Esportivos , Esportes para Pessoas com Deficiência/fisiologia , Adulto Jovem
19.
Mol Neurobiol ; 58(1): 243-262, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32918239

RESUMO

Mitochondrial diseases (MD), such as Leigh syndrome (LS), present with severe neurological and muscular phenotypes in patients, but have no known cure and limited treatment options. Based on their neuroprotective effects against other neurodegenerative diseases in vivo and their positive impact as an antioxidant against complex I deficiency in vitro, we investigated the potential protective effect of metallothioneins (MTs) in an Ndufs4 knockout mouse model (with a very similar phenotype to LS) crossed with an Mt1 overexpressing mouse model (TgMt1). Despite subtle reductions in the expression of neuroinflammatory markers GFAP and IBA1 in the vestibular nucleus and hippocampus, we found no improvement in survival, growth, locomotor activity, balance, or motor coordination in the Mt1 overexpressing Ndufs4-/- mice. Furthermore, at a cellular level, no differences were detected in the metabolomics profile or gene expression of selected one-carbon metabolism and oxidative stress genes, performed in the brain and quadriceps, nor in the ROS levels of macrophages derived from these mice. Considering these outcomes, we conclude that MT1, in general, does not protect against the impaired motor activity or improve survival in these complex I-deficient mice. The unexpected absence of increased oxidative stress and metabolic redox imbalance in this MD model may explain these observations. However, tissue-specific observations such as the mildly reduced inflammation in the hippocampus and vestibular nucleus, as well as differential MT1 expression in these tissues, may yet reveal a tissue- or cell-specific role for MTs in these mice.


Assuntos
Complexo I de Transporte de Elétrons/deficiência , Metalotioneína/metabolismo , Doenças Mitocondriais/patologia , Doenças Mitocondriais/prevenção & controle , Animais , Ataxia/complicações , Ataxia/patologia , Ataxia/fisiopatologia , Biomarcadores/metabolismo , Peso Corporal , Modelos Animais de Doenças , Complexo I de Transporte de Elétrons/metabolismo , Feminino , Hipocampo/patologia , Inflamação/sangue , Inflamação/patologia , Masculino , Metaboloma , Metalotioneína/genética , Camundongos Knockout , Doenças Mitocondriais/genética , Doenças Mitocondriais/fisiopatologia , Atividade Motora , Oxirredução , Estresse Oxidativo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Análise de Sobrevida , Microglobulina beta-2/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...