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1.
J Sleep Res ; 30(3): e13159, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-32791570

RESUMEN

Cognitive impairment (CI) and fatigue are common in people with multiple sclerosis (MS), with well-known profound effects on quality of life. Sleep disorders, including obstructive sleep apnoea (OSA), are also common in MS patients. The presence of CI has previously been shown to strongly correlate with OSA diagnosed using polysomnography in MS. Treatment of OSA has not previously been investigated as a potential modality to improve cognition in MS patients. Therefore, we sought to investigate the potential effects of OSA treatment on both cognitive function and fatigue in MS patients. Twenty-three participants with MS reporting significant fatigue were enrolled. CI was assessed by the Brief International Cognitive Assessment in MS and the 3-second Paced Auditory Serial Addition Test. All participants underwent overnight polysomnography to assess for possible OSA. Cognitive and fatigue measures were repeated in those subsequently treated for OSA and in a comparative untreated sample. Seven participants (30%) had a diagnosis of OSA based on an apnoea-hypopnea index greater than 5 per hour, with no correlation between the presence of CI and OSA. Verbal learning at follow-up assessment was seen to improve significantly in those treated for OSA, compared with those who were not treated for a sleep disorder. This small study demonstrates the potential for OSA treatment to improve verbal learning in people with MS, larger studies are indicated to further investigate the potential for cognitive and fatigue improvement in people with MS through treatment of comorbid OSA.


Asunto(s)
Cognición/fisiología , Disfunción Cognitiva/etiología , Fatiga/etiología , Esclerosis Múltiple/complicaciones , Polisomnografía/métodos , Calidad de Vida/psicología , Apnea Obstructiva del Sueño/complicaciones , Adulto , Estudios Transversales , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Apnea Obstructiva del Sueño/patología
2.
Mult Scler ; 25(6): 867-870, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-29648501

RESUMEN

The International Panel on Diagnosis of Multiple Sclerosis (MS) recently revised the 2010 McDonald criteria and made recommendations for revision, allowing for the earliest possible, accurate diagnosis of MS. For relapsing-remitting MS, positive, unmatched cerebrospinal fluid oligoclonal bands may substitute for dissemination in time. Symptomatic lesions, including brainstem and spinal cord, may demonstrate dissemination in space or in time if enhancing (with the exception of the optic nerve). Cortical and juxtacortical lesions are equivalent. In this retrospective analysis, we applied revised criteria to 250 patients previously diagnosed with relapsing-remitting MS according to 2010 criteria and assessed for change in diagnostic times. There was a significant improvement in time to diagnosis between 2010 and 2017 groups ( p < 0.01). Median time to diagnosis according to McDonald 2010 was 7.4 months, compared with 2.3 months for McDonald 2017. Use of cerebrospinal fluid results most frequently resulted in a reduction in time to diagnosis. Symptomatic gadolinium-enhancing lesions led to earliest diagnostic times.


Asunto(s)
Esclerosis Múltiple Recurrente-Remitente/diagnóstico , Guías de Práctica Clínica como Asunto , Adolescente , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Procesos, Atención de Salud , Estudios Retrospectivos , Factores de Tiempo , Adulto Joven
3.
J Neurol Neurosurg Psychiatry ; 87(5): 512-9, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-25935893

RESUMEN

BACKGROUND: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on pathological examination. It most frequently presents in adulthood with dementia and personality change. HDLS has recently been found to be caused by mutations in the colony stimulating factor-1 receptor (CSF1R) gene. METHODS: In this study, we sequenced the CSF1R gene in a cohort of 48 patients from the UK, Greece and Ireland with adult onset leukodystrophy of unknown cause. RESULTS: Five pathogenic mutations were found, including three novel mutations. The presentations ranged from suspected central nervous system (CNS) vasculitis to extrapyramidal to cognitive phenotypes. The case histories and imaging are presented here, in addition to neuropathological findings from two cases with novel mutations. CONCLUSION: We estimate that CSF1R mutations account for 10% of idiopathic adult onset leukodystrophies and that genetic testing for CSF1R mutations is essential in adult patients presenting with undefined CNS vasculitis or a leukodystrophy with prominent neuropsychiatric signs or dementia.


Asunto(s)
Axones/patología , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/patología , Leucoencefalopatías/genética , Leucoencefalopatías/patología , Trastornos Parkinsonianos/patología , Receptores del Factor Estimulante de Colonias/genética , Vasculitis del Sistema Nervioso Central/patología , Adulto , Femenino , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/complicaciones , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Humanos , Leucoencefalopatías/complicaciones , Masculino , Persona de Mediana Edad , Mutación , Trastornos Parkinsonianos/complicaciones , Trastornos Parkinsonianos/genética , Fenotipo , Vasculitis del Sistema Nervioso Central/complicaciones , Vasculitis del Sistema Nervioso Central/genética
4.
J Vasc Surg ; 57(4): 1129-33, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23535043

RESUMEN

BACKGROUND: Arteriovenous fistula (AVF) formation for dialysis access is a common procedure. Fistula maturation is unpredictable. Preoperative duplex mapping may increase procedural success. We undertook a systematic review to assess the effect of preoperative duplex mapping on subsequent AVF patency. METHODS: The published literature was searched on PubMed and the Cochrane Library using the following keywords: 'arteriovenous fistula,' 'venous mapping,' 'ultrasound,' 'hemodialysis,' 'vascular access,' and 'perioperative vessel mapping.' Conference proceedings were hand searched for otherwise unpublished trials. Only randomized controlled trials in which preoperative duplex mapping was compared with clinical evaluation were eligible. RESULTS: Three trials (402 patients) were identified. More patients who underwent ultrasound successfully started using their fistula for dialysis access, although the difference did not reach statistical significance (174/214 vs 130/188; pooled odds ratio, 1.96; P = .11). CONCLUSIONS: Preoperative duplex mapping may improve fistula maturation rates. However, the results do not reach statistical significance and there are no cost-effectiveness data. Further work is required.


Asunto(s)
Derivación Arteriovenosa Quirúrgica , Diálisis Renal , Ultrasonografía Doppler Dúplex , Derivación Arteriovenosa Quirúrgica/efectos adversos , Humanos , Oportunidad Relativa , Valor Predictivo de las Pruebas , Cuidados Preoperatorios , Factores de Tiempo , Resultado del Tratamiento , Grado de Desobstrucción Vascular
7.
Ir J Med Sci ; 190(3): 1149-1154, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33108620

RESUMEN

BACKGROUND: Cognitive impairment (CI) is common in multiple sclerosis (MS), including newly diagnosed MS, where it is particularly underrecognised. Determining the presence of CI in the outpatient clinic often relies on patient-reported complaints, with limited time and resources in this setting. Prior studies have shown that self-reported cognition relates poorly to formal neuropsychological testing in the MS population and correlates more with factors such as anxiety, depression and fatigue. AIMS: In this study, we assess the prevalence of perceived cognitive dysfunction in newly diagnosed MS patients and compare results with an established MS cohort. RESULTS: Thirty-nine patients with newly diagnosed MS (12 months following diagnosis) and 24 patients with an established diagnosis (3 years) were included. Similar levels of perceived and objective CI were seen in both groups. There was a strong correlation of perceived cognitive dysfunction with anxiety, mood and fatigue. Perceived cognition did not correlate with objective CI, assessed using the Brief International Cognitive Assessment in MS (BICAMS), in either group. CONCLUSIONS: Study findings add to the literature of perceived cognition in MS, in a newly diagnosed cohort. Findings are consistent with previous research using detailed neuropsychological assessments, confirming the sensitivity of BICAMS, applicable in a routine clinical setting.


Asunto(s)
Disfunción Cognitiva , Esclerosis Múltiple , Cognición , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Fatiga/epidemiología , Fatiga/etiología , Humanos , Esclerosis Múltiple/complicaciones , Pruebas Neuropsicológicas
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