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1.
J Clin Med ; 10(5)2021 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-33802336

RESUMO

This study aims to assess rehabilitation needs and provision of rehabilitation services for individuals with moderate-to-severe disability and investigate factors influencing the probability of receiving rehabilitation within six months after traumatic brain injury (TBI). Overall, the analyses included 1206 individuals enrolled in the CENTER-TBI study with severe-to-moderate disability. Impairments in five outcome domains (daily life activities, physical, cognition, speech/language, and psychological) and the use of respective rehabilitation services (occupational therapy, physiotherapy, cognitive and speech therapies, and psychological counselling) were recorded. Sociodemographic and injury-related factors were used to investigate the probability of receiving rehabilitation. Physiotherapy was the most frequently provided rehabilitation service, followed by speech and occupational therapy. Psychological counselling was the least frequently accessed service. The probability of receiving a rehabilitative intervention increased for individuals with greater brain injury severity (odds ratio (OR) 1.75, CI 95%: 1.27-2.42), physical (OR 1.92, CI 95%: 1.21-3.05) and cognitive problems (OR 4.00, CI 95%: 2.34-6.83) but decreased for individuals reporting psychological problems (OR 0.57, CI 95%: 1.21-3.05). The study results emphasize the need for more extensive prescription of rehabilitation services for individuals with disability. Moreover, targeted rehabilitation programs, which aim to improve outcomes, should specifically involve psychological services to meet the needs of individuals recovering from TBI.

2.
J Neurol ; 268(1): 61-73, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32676767

RESUMO

BACKGROUND: Fatigue is one of the most commonly reported subjective symptoms following traumatic brain injury (TBI). The aims were to assess frequency of fatigue over the first 6 months after TBI, and examine whether fatigue changes could be predicted by demographic characteristics, injury severity and comorbidities. METHODS: Patients with acute TBI admitted to 65 trauma centers were enrolled in the study Collaborative European NeuroTrauma Effectiveness Research in TBI (CENTER-TBI). Subjective fatigue was measured by single item on the Rivermead Post-Concussion Symptoms Questionnaire (RPQ), administered at baseline, three and 6 months postinjury. Patients were categorized by clinical care pathway: admitted to an emergency room (ER), a ward (ADM) or an intensive care unit (ICU). Injury severity, preinjury somatic- and psychiatric conditions, depressive and sleep problems were registered at baseline. For prediction of fatigue changes, descriptive statistics and mixed effect logistic regression analysis are reported. RESULTS: Fatigue was experienced by 47% of patients at baseline, 48% at 3 months and 46% at 6 months. Patients admitted to ICU had a higher probability of experiencing fatigue than those in ER and ADM strata. Females and individuals with lower age, higher education, more severe intracranial injury, preinjury somatic and psychiatric conditions, sleep disturbance and feeling depressed postinjury had a higher probability of fatigue. CONCLUSION: A high and stable frequency of fatigue was found during the first 6 months after TBI. Specific socio-demographic factors, comorbidities and injury severity characteristics were predictors of fatigue in this study.


Assuntos
Lesões Encefálicas Traumáticas , Lesões Encefálicas , Transtornos do Sono-Vigília , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/epidemiologia , Emoções , Fadiga/epidemiologia , Fadiga/etiologia , Feminino , Humanos , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia
5.
J Med Genet ; 47(8): 575-7, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19858127

RESUMO

BACKGROUND: Myosin binding protein C (MyBPC) is essential for the structure of the sarcomeres in striated muscle. There is one cardiac specific isoform and two skeletal muscle specific isoforms. Mutations in MYBPC3 encoding the cardiac isoform cause cardiomyopathy. METHODS AND RESULTS: We have identified an infant with fatal cardiomyopathy due to a homozygous mutation, p.R943X, in MYBPC3. The patient also had an unexpected skeletal myopathy. The patient expressed the cardiac specific MyBPC isoform in skeletal muscle at transcript and protein levels. Numerous muscle fibres expressing the mutant cardiac isoform showed structural abnormalities with disorganisation of sarcomeres and depletion of myosin thick filaments. CONCLUSIONS: The surprising identification of a skeletal myopathy in this patient was due to aberrant expression of mutant cardiac MyBPC in skeletal muscle.


Assuntos
Cardiomiopatias/genética , Proteínas de Transporte/genética , Predisposição Genética para Doença , Doenças Musculares/genética , Mutação/genética , Miocárdio/metabolismo , Miocárdio/patologia , Sequência de Bases , Análise Mutacional de DNA , Evolução Fatal , Feminino , Humanos , Lactente , Dados de Sequência Molecular , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Músculo Esquelético/ultraestrutura , Doenças Musculares/patologia
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