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1.
J Sleep Res ; 33(2): e14007, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37621198

RESUMO

Narcolepsy is associated with reduced quality of life and physical performance. The study aimed to explore the attitudes of people with Type 1 narcolepsy towards exercise and physical activity, their physical wellbeing, and the potential role of physiotherapy. Semi-structured interviews were conducted with 22 people with narcolepsy attending a dedicated outpatient narcolepsy clinic located in Dublin, Ireland. Transcripts were iteratively coded; a thematic analysis was undertaken, and key themes were identified. Four themes were identified: 'Barriers and Facilitators to Exercising', 'Social Concerns', 'Health Concerns' and 'Suggestions for the Role of Physiotherapy'. Future research should explore the potential role of exercise to help manage narcolepsy-related symptoms in this population.


Assuntos
Exercício Físico , Qualidade de Vida , Humanos , Pesquisa Qualitativa , Modalidades de Fisioterapia
2.
J Sleep Res ; 30(6): e13383, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34036640

RESUMO

To date, there has been no systematic analysis of the literature regarding health-related quality of life in narcolepsy. This systematic review aimed to examine the impact of narcolepsy on health-related quality of life, measured through standardised health-related quality of life questionnaires such as the Short Form 36 and Functional Outcome of Sleep Questionnaire. The following databases: Medline, Embase, Cinahl, and Web of Science were searched for studies that investigated health-related quality of life in adults with narcolepsy. Studies were reviewed independently by two reviewers, and a random-effects meta-analysis was performed. A total of 30 studies were eligible for inclusion in the review. Additionally, meta-analyses were conducted for the Short Form 36 and the EQ5D. The Short Form 36 meta-analysis identified that the pooled mean scores for the Physical Component Summary (45.91) were less affected than the Mental Component Summary (42.98). People with narcolepsy experience substantially lower health-related quality of life when compared with the general population norms of the USA, UK, France and Norway, as well as compared with people with chronic diseases such as multiple sclerosis, diabetes, hypertension and epilepsy. Further research is warranted to identify the longitudinal effects of narcolepsy on health-related quality of life, and to develop a narcolepsy-specific health-related quality of life tool.


Assuntos
Narcolepsia , Qualidade de Vida , Adulto , Doença Crônica , Humanos , Sono , Inquéritos e Questionários
3.
Eur Neurol ; 83(6): 622-625, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33147591

RESUMO

Telemedicine has been widely implemented during the COVID-19 global pandemic to enable continuity of care of chronic illnesses. We modified our general neurology clinic to be conducted using remote audio-only telephone consultations. We included all patients over a 10-week period who agreed to both a telephone consultation and a questionnaire afterwards in order to ascertain the patient's perspective of the experience. There were 212 participants consisting of men (43.8%) and women (56.2%). The mean ± standard deviation of age was 47.8 ± 17.0 (range 17-93) years. For the most part, patients found remote consultations either "just as good" (67.1%) or "better" (9.0%) than face-to-face consultations. Those who deemed it to be "not as good" were significantly older (52.3 ± 17.9 years vs. 46.6 ± 16.6 years, p =0.045) or were more likely to have a neurological disorder that required clinical examination, namely, a neuromuscular condition (66.7%, p = 0.002) or an undiagnosed condition (46.7%, p = 0.031). At the height of the COVID-19 global pandemic, most patients were satisfied with remote consultations. The positive feedback for remote consultations needs to be verified outside of this unique scenario because the results were likely influenced by the patients' apprehension to attend the hospital amongst other factors.


Assuntos
COVID-19 , Neurologia , Satisfação do Paciente , Telemedicina , Telefone , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Assistência Ambulatorial , Instituições de Assistência Ambulatorial , Epilepsia , Feminino , Transtornos da Cefaleia , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos , Esclerose Múltipla , Doenças Neuromusculares , Pandemias , Doenças do Sistema Nervoso Periférico , SARS-CoV-2 , Fatores Sexuais , Inquéritos e Questionários , Adulto Jovem
4.
Neurocrit Care ; 24(2): 233-9, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26013921

RESUMO

BACKGROUND: Generalized triphasic waves (TPWs) occur in both metabolic encephalopathies and non-convulsive status epilepticus (NCSE). Empiric trials of benzodiazepines (BZDs) or non-sedating AED (NSAEDs) are commonly used to differentiate the two, but the utility of such trials is debated. The goal of this study was to assess response rates of such trials and investigate whether metabolic profile differences affect the likelihood of a response. METHODS: Three institutions within the Critical Care EEG Monitoring Research Consortium retrospectively identified patients with unexplained encephalopathy and TPWs who had undergone a trial of BZD and/or NSAEDs to differentiate between ictal and non-ictal patterns. We assessed responder rates and compared metabolic profiles of responders and non-responders. Response was defined as resolution of the EEG pattern and either unequivocal improvement in encephalopathy or appearance of previously absent normal EEG patterns, and further categorized as immediate (within <2 h of trial initiation) or delayed (>2 h from trial initiation). RESULTS: We identified 64 patients with TPWs who had an empiric trial of BZD and/or NSAED. Most patients (71.9%) were admitted with metabolic derangements and/or infection. Positive clinical responses occurred in 10/53 (18.9%) treated with BZDs. Responses to NSAEDs occurred in 19/45 (42.2%), being immediate in 6.7%, delayed but definite in 20.0%, and delayed but equivocal in 15.6%. Overall, 22/64 (34.4%) showed a definite response to either BZDs or NSAEDs, and 7/64 (10.9%) showed a possible response. Metabolic differences of responders versus non-responders were statistically insignificant, except that the 48-h low value of albumin in the BZD responder group was lower than in the non-responder group. CONCLUSIONS: Similar metabolic profiles in patients with encephalopathy and TPWs between responders and non-responders to anticonvulsants suggest that predicting responders a priori is difficult. The high responder rate suggests that empiric trials of anticonvulsants indeed provide useful clinical information. The more than twofold higher response rate to NSAEDs suggests that this strategy may be preferable to BZDs. Further prospective investigation is warranted.


Assuntos
Anticonvulsivantes/farmacologia , Benzodiazepinas/farmacologia , Encefalopatias , Eletroencefalografia/métodos , Metaboloma , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Encefalopatias/tratamento farmacológico , Encefalopatias/metabolismo , Encefalopatias/fisiopatologia , Ensaios Clínicos como Assunto , Humanos , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Estudos Retrospectivos , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/metabolismo , Estado Epiléptico/fisiopatologia , Adulto Jovem
5.
Breathe (Sheff) ; 18(3): 220157, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36865656

RESUMO

Narcolepsy and related central disorders of hypersomnolence may present to the sleep clinic with excessive daytime sleepiness. A strong clinical suspicion and awareness of the diagnostic clues, such as cataplexy, are essential to avoid unnecessary diagnostic delay. This review provides an overview of the epidemiology, pathophysiology, clinical features, diagnostic criteria and management of narcolepsy and related disorders, including idiopathic hypersomnia, Kleine-Levin syndrome (recurrent episodic hypersomnia) and secondary central disorders of hypersomnolence.

6.
Brain Behav Immun Health ; 15: 100263, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34589769

RESUMO

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease of the white matter central nervous system occurring in immunocompromised patients particularly those with T cell deficiency such as in HIV, haematological and solid organ malignancies and those taking immunomodulatory medications. PML is caused by JC virus however in rare cases BK virus has been isolated in the cerebral spinal fluid of patients presenting with PML. In this case we describe a 49 year old man who presented to the emergency department with a 2 week history of progressive right sided weakness and dysarthria. His background history included HIV diagnosed in 2005, he had not engaged with care in the past 2 years and had not been taking anti-retroviral therapy (ART). Other past medical history included untreated hepatitis C. His CD4 count was 90 (11%) cells/mm3 on admission and his HIV viral load VL) was 141,000 copies/ml. Magnetic resonance imaging(MRI) showed a hypointense lesion on T1, hyperintense on T2 and FLAIR without diffusion restriction and without mass effect. A lumbar puncture was performed which confirmed JC virus was positive (PCR <50 copies/ml) and also revealed BK virus was positive (PCR 46,511 copies/ml). The patient was commenced on tenofovir alafenamide fumarate/emtricitabine/darunavir/cobicistat in combination with dolutegravir 50mg twice daily. On day 40 post commencement of ART the patient was readmitted with worsening of his right arm weakness and dysarthria. A repeat MRI was performed which showed the hyperdense lesion on T2 and FLAIR appeared slightly larger with some slight enhancement with gadolinium contrast but no other features suggesting PML immune reconstitution inflammatory syndrome (IRIS). The CD4 count had increased to 141(17%) and HIV VL had decreased to 85 copies/ml. A clinical diagnosis of PML IRIS was made and the patient was commenced on prednisolone 30mg BD which lead to an initial improvement in symptoms. Interestingly in this case, both JC virus and BK virus were detected in the CSF of this patient with the level of JC virus being too low to quantify. BK virus was not detectable on peripheral serum sampling suggesting that BK virus is replicating in the CNS independent of other body sites. There have been 5 case reports in the literature of BK virus as the cause of PML. Testing for BK virus should be considered in patients presenting with signs and symptoms of PML and encephalitis particularly when no other cause is found.

7.
Lancet Neurol ; 6(11): 970-80, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17913586

RESUMO

BACKGROUND: The Epilepsy Genetics (EPIGEN) Consortium was established to undertake genetic mapping analyses with augmented statistical power to detect variants that influence the development and treatment of common forms of epilepsy. METHODS: We examined common variations across 279 prime candidate genes in 2717 case and 1118 control samples collected at four independent research centres (in the UK, Ireland, Finland, and Australia). Single nucleotide polymorphism (SNP) and combined set-association analyses were used to examine the contribution of genetic variation in the candidate genes to various forms of epilepsy. FINDINGS: We did not identify clear, indisputable common genetic risk factors that contribute to selected epilepsy subphenotypes across multiple populations. Nor did we identify risk factors for the general all-epilepsy phenotype. However, set-association analysis on the most significant p values, assessed under permutation, suggested the contribution of numerous SNPs to disease predisposition in an apparent population-specific manner. Variations in the genes KCNAB1, GABRR2, KCNMB4, SYN2, and ALDH5A1 were most notable. INTERPRETATION: The underlying genetic component to sporadic epilepsy is clearly complex. Results suggest that many SNPs contribute to disease predisposition in an apparently population-specific manner. However, subtle differences in phenotyping across cohorts, combined with a poor understanding of how the underlying genetic component to epilepsy aligns with current phenotypic classifications, might also account for apparent population-specific genetic risk factors. Variations across five genes warrant further study in independent cohorts to clarify the tentative association.


Assuntos
Mapeamento Cromossômico , Epilepsia/genética , Convulsões/genética , Adulto , Estudos de Casos e Controles , Estudos de Coortes , Predisposição Genética para Doença , Variação Genética , Genótipo , Humanos , Canal de Potássio Kv1.3/genética , Subunidades beta do Canal de Potássio Ativado por Cálcio de Condutância Alta/genética , Proteínas do Tecido Nervoso/genética , Fenótipo , Polimorfismo de Nucleotídeo Único , Receptores de GABA-A , Receptores de GABA-B/genética , Succinato-Semialdeído Desidrogenase/genética , Sinapsinas/genética , Síndrome
8.
Seizure ; 24: 52-8, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25457454

RESUMO

PURPOSE: Persistent uncertainty over the clinical significance of various pathological continuous electroencephalography (cEEG) findings in the intensive care unit (ICU) has prompted efforts to standardize ICU cEEG terminology and an ensuing debate. We set out to understand the reasons for, and a satisfactory resolution to, this debate. METHOD: We review the positions for and against standardization, and examine their deeper philosophical basis. RESULTS: We find that the positions for and against standardization are not fundamentally irreconcilable. Rather, both positions stem from conflating the three cardinal steps in the classic approach to EEG, which we term "description", "interpretation", and "prescription". Using real-world examples we show how this conflation yields muddled clinical reasoning and unproductive debate among electroencephalographers that is translated into confusion among treating clinicians. We propose a middle way that judiciously uses both standardized terminology and clinical reasoning to disentangle these critical steps and apply them in proper sequence. CONCLUSION: The systematic approach to ICU cEEG findings presented herein not only resolves the standardization debate but also clarifies clinical reasoning by helping electroencephalographers assign appropriate weights to cEEG findings in the face of uncertainty.


Assuntos
Cuidados Críticos/métodos , Cuidados Críticos/normas , Eletroencefalografia/normas , Unidades de Terapia Intensiva/normas , Monitorização Fisiológica , Humanos
9.
Clin Neurophysiol ; 126(3): 463-71, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25082090

RESUMO

OBJECTIVE: To characterize the risk for seizures over time in relation to EEG findings in hospitalized adults undergoing continuous EEG monitoring (cEEG). METHODS: Retrospective analysis of cEEG data and medical records from 625 consecutive adult inpatients monitored at a tertiary medical center. Using survival analysis methods, we estimated the time-dependent probability that a seizure will occur within the next 72-h, if no seizure has occurred yet, as a function of EEG abnormalities detected so far. RESULTS: Seizures occurred in 27% (168/625). The first seizure occurred early (<30min of monitoring) in 58% (98/168). In 527 patients without early seizures, 159 (30%) had early epileptiform abnormalities, versus 368 (70%) without. Seizures were eventually detected in 25% of patients with early epileptiform discharges, versus 8% without early discharges. The 72-h risk of seizures declined below 5% if no epileptiform abnormalities were present in the first two hours, whereas 16h of monitoring were required when epileptiform discharges were present. 20% (74/388) of patients without early epileptiform abnormalities later developed them; 23% (17/74) of these ultimately had seizures. Only 4% (12/294) experienced a seizure without preceding epileptiform abnormalities. CONCLUSIONS: Seizure risk in acute neurological illness decays rapidly, at a rate dependent on abnormalities detected early during monitoring. This study demonstrates that substantial risk stratification is possible based on early EEG abnormalities. SIGNIFICANCE: These findings have implications for patient-specific determination of the required duration of cEEG monitoring in hospitalized patients.


Assuntos
Córtex Cerebral/fisiopatologia , Eletroencefalografia/métodos , Convulsões/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estado Terminal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Convulsões/fisiopatologia , Adulto Jovem
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