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1.
Rev Neurol (Paris) ; 179(4): 282-288, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36792421

RESUMEN

BACKGROUND: Fatigue is a common complaint in patients with multiple sclerosis (PwMS) and reduces quality of life. Several hypotheses for the pathogenesis of fatigue in MS are proposed ranging from neurological lesions to malnutrition, but none has been conclusively validated through clinical research. OBJECTIVES: The goal of this study was to examine the correlation between fatigue and nutritional status and dietary habits in PwMS. METHODS: This was a cross-sectional, multicenter study conducted at 10 French MS centers and enrolling PwMS with an Expanded Disability Status Scale (EDSS) score between 0 and 7. Plasma level of albumin, magnesium, calcium, iron, vitamin D and B12 evaluated nutritional status. A semi-structured eating behavior questionnaire has been developed to evaluate dietary habits. Evaluation of fatigue used specific questionnaire (EMIF-SEP). Quality of sleep was evaluated by visual analogue scale (VAS), depression with Beck Depression Inventory (BDI-II); dysphagia by DYsphagia in MUltiple Sclerosis questionnaire (DYMUS) and taste disorders by gustometry. Association between nutritional deficiencies and different data such as socio-demographic data, disease characteristics, swallowing and taste disorders, food intake, depression and sleep quality was investigated. RESULTS: A total of 352 patients mean age: 48.1±10.1 years, mean duration of MS: 15.3±9.1 years and median EDSS: 4 were analyzed. Bivariate and multivariate analyses showed a statistically significant correlation between fatigue and depression and use of sleeping pills, while none of the variables related to dietary habits or nutritional status correlated significantly with fatigue. CONCLUSIONS: Dietary habits and nutritional status have little impact on fatigue and general population nutrition recommendations remain the rule for PwMS. In cases of fatigue, specific attention should be paid to depression and use of sleeping pills.


Asunto(s)
Trastornos de Deglución , Desnutrición , Esclerosis Múltiple , Humanos , Adulto , Persona de Mediana Edad , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/epidemiología , Calidad de Vida , Estado Nutricional , Estudios Transversales , Evaluación de la Discapacidad , Fatiga/diagnóstico , Fatiga/epidemiología , Fatiga/etiología , Depresión/diagnóstico , Depresión/epidemiología , Depresión/etiología , Desnutrición/diagnóstico , Desnutrición/epidemiología , Desnutrición/etiología
2.
Prog Urol ; 33(15-16): 1014-1025, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37858377

RESUMEN

OBJECTIVES: To describe a concept of standardized preoperative one-day evaluation before urinary reconstructive or diversion surgery for the treatment of neurogenic lower urinary tract (LUT) dysfunction, and to evaluate its feasibility and its impact on the care pathway. MATERIALS AND METHODS: All patients who underwent a one-day standardized evaluation before a urinary reconstructive or derivation surgery for the treatment of neurogenic LUT dysfunction between January 2017 and December 2021 in our institution were included. Data were collected retrospectively from standardized reports. The main outcome was the rate of completion of the tests and consultations planned during this evaluation. Secondary outcomes included the findings from the one-day evaluation and changes in the urological surgical strategy at different time points within one year. RESULTS: One hundred and thirty-one patients benefited from this one-day standardized evaluation. The overall completeness rate of the data collected was 77.5%, increasing from 62.3% in 2017 to 89.3% in 2021. The urological surgical plan was modified for 19.1% of patients following this preoperative evaluation. The indication was then confirmed for 114 patients (87.0%) by the multidisciplinary meeting and was carried out unchanged during the following year for 89 patients (67.9%). An associated colostomy procedure was proposed for 18.3% of patients and was finally performed in 11.5%. CONCLUSION: A standardized multidisciplinary preoperative one-day evaluation before performing reconstructive or diversion surgery for the treatment of neurogenic LUT dysfunction seems feasible and makes it possible to optimize the surgical plan and adapt the course of care.


Asunto(s)
Cirugía Plástica , Vejiga Urinaria Neurogénica , Humanos , Vejiga Urinaria Neurogénica/cirugía , Estudios Retrospectivos , Vías Clínicas , Estudios de Factibilidad , Vejiga Urinaria
3.
Prog Urol ; 33(17): 1047-1061, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37949799

RESUMEN

OBJECTIVES: To evaluate follow-up after implantation of a sacral nerve modulation implantable pulse generator (IPG) and to investigate the reasons and risk factors for follow-up discontinuation. MATERIALS AND METHODS: All patients who underwent an IPG implantation to treat lower urinary tract symptoms between 2014-2019 within 6 hospital centers located in the district of "Hauts-de-France" (France) were systematically called during the year 2020 for a standardized (tele)consultation. Patients were divided into 3 distinct profiles according to the regularity of their 5-year postoperative follow-up: "Regular follow-up", "Irregular follow-up" and "Lost to follow-up". The primary outcome was the change in the annual proportion of the 3 follow-up profiles over the 5 years following IPG implantation. As secondary outcomes we described the reasons reported for follow-up discontinuation and looked for risk factors associated with. RESULTS: Overall, 259 patients were included. At the time of data collection, after a mean follow-up of 28.4 (± 19.8) months, 139 patients (53.7%) had a "Regular follow-up", 54 (20.8%) had an "Irregular follow-up" and 66 (25.5%) were "Lost to follow-up". The proportion of patients with a "Regular follow-up" decreased year by year, representing only 46.2% of patients at five-years. 175 patients (67.6%) underwent a standardized (tele)consultation. In multivariate analysis, only "lack of knowledge of the follow-up protocol" was statistically associated with follow-up discontinuation (OR=5.16; 95% CI [2.12-13.57]). CONCLUSION: The proportion of patients followed up after IPG implantation decreased steadily over the years, often related to a lack of therapeutic education.


Asunto(s)
Terapia por Estimulación Eléctrica , Humanos , Estudios de Seguimiento , Resultado del Tratamiento , Estudios Retrospectivos , Factores de Riesgo , Plexo Lumbosacro
4.
Rev Neurol (Paris) ; 178(10): 1098-1104, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36180289

RESUMEN

BACKGROUND: In clinical practice, the diagnosis of secondary progressive multiple sclerosis (SPMS) is often delayed, retrospective and non-reproducible, as there are no consensus criteria that define the advent of SPMS. Early identification of SPMS is essential to improve patient care. METHODS: Eight regional board meetings in France involving 56 multiple sclerosis (MS) experts (neurologists) were convened to discuss diagnostic criteria for SPMS. Subsequently, a national board meeting of 13 neurologists (with an expert representing each geographical region) was held to review points of convergence or divergence between regions and to develop a national consensus document. RESULTS: Based on the discussions from the regional boards, the MS experts at the national board retained the worsening of the EDSS score, with compatible clinical features, as the only consensus criterion for the diagnosis of SPMS in clinical practice. The patient should have experienced during at least the previous 6 months and in the absence of any relapse, a worsening in the EDSS score of +1.0 point (if the previous EDSS was≤5.0) or of +0.5 point (if the previous EDSS was≥5.5), with a pyramidal or cerebellar functional system score≥2 and without setting a minimum EDSS score; or, in case of a stable EDSS score≥4.0, a worsening of a functional score. This worsening should be confirmed within 3 to 6 months. According to the MS experts, the patient's age, duration of illness and a minimal threshold EDSS score are only risk factors for transition to SPMS. Patient reports during consultation and cognitive impairment are important warning signs, which should trigger an objective assessment with specific tests or closer monitoring. Clinical relapse and/or MRI activities are non-discriminatory for making the diagnosis of SPMS. CONCLUSIONS: The experts defined precise diagnostic criteria adapted to clinical practice for earlier identification of SPMS, paving the way for better management of this stage of the disease.


Asunto(s)
Esclerosis Múltiple Crónica Progresiva , Esclerosis Múltiple , Humanos , Esclerosis Múltiple Crónica Progresiva/diagnóstico , Esclerosis Múltiple/diagnóstico , Estudios Retrospectivos , Progresión de la Enfermedad , Recurrencia
5.
Rev Neurol (Paris) ; 177(9): 1145-1150, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34187691

RESUMEN

BACKGROUND: In multiple sclerosis (MS), the prevalence of alexithymia, defined as an inability to identify and describe emotions, is close to 50% but the prevalence of this symptom in clinically isolated syndrome (CIS) is unknown. Characterizing alexithymia at an early stage of the disease can help to clarify psychobehavioural disturbances in CIS patients. METHODS: Forty CIS patients, who fulfilled the MRI criteria for dissemination in space, were matched with 40 healthy subjects. They completed self-assessment scales for alexithymia, depression, anxiety, apathy and empathy. Cognitive functions were assessed using a battery of neuropsychological tests. RESULTS: The mean delay (± standard deviation) between the occurrence of CIS and inclusion in the study was 3.9 (2.8) months. The frequency of alexithymia was higher in CIS patients than in controls, with a prevalence of 42% (P<0.0001). Alexithymia correlated with anxiety and depression but not with cognition. Alexithymia was dependent only on depression (P=0.003). CONCLUSION: Alexithymia, characterized by difficulty identifying feelings, is present in patients in the early stage of MS, and seems to be strongly associated with depression. Difficulty in social interaction could be a risk of future affective disorders.


Asunto(s)
Síntomas Afectivos , Trastornos de Ansiedad , Síntomas Afectivos/epidemiología , Ansiedad , Cognición , Emociones , Humanos
6.
Eur J Neurol ; 25(5): 739-746, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29356206

RESUMEN

BACKGROUND AND PURPOSE: The European Charcot Foundation supported the development of a set of surveys to understand current practice patterns for the diagnosis and management of multiple sclerosis (MS) in Europe. Part 2 of the report summarizes survey results related to secondary progressive MS (SPMS), primary progressive MS (PPMS), pregnancy, paediatric MS and overall patient management. METHODS: A steering committee of MS neurologists developed case- and practice-based questions for two sequential surveys distributed to MS neurologists throughout Europe. RESULTS: Respondents generally favoured changing rather than stopping disease-modifying treatment (DMT) in patients transitioning from relapsing-remitting MS to SPMS, particularly with active disease. Respondents would not initiate DMT in patients with typical PPMS symptoms, although the presence of ≥1 spinal cord or brain gadolinium-enhancing lesion might affect that decision. For patients considering pregnancy, respondents were equally divided on whether to stop treatment before or after conception. Respondents strongly favoured starting DMT in paediatric MS with active disease; recommended treatments included interferon, glatiramer acetate and, in John Cunningham virus negative patients, natalizumab. Additional results regarding practice-based questions and management are summarized. CONCLUSIONS: Results of part 2 of the survey of diagnostic and treatment practices for MS in Europe largely mirror results for part 1, with neurologists in general agreement about the treatment and management of SPMS, PPMS, pregnancy and paediatric MS as well as the general management of MS. However, there are also many areas of disagreement, indicating the need for evidence-based recommendations and/or guidelines.


Asunto(s)
Acetato de Glatiramer/uso terapéutico , Factores Inmunológicos/uso terapéutico , Esclerosis Múltiple/diagnóstico , Natalizumab/uso terapéutico , Pautas de la Práctica en Medicina , Complicaciones del Embarazo/diagnóstico , Adulto , Encéfalo/diagnóstico por imagen , Niño , Progresión de la Enfermedad , Europa (Continente) , Femenino , Encuestas de Atención de la Salud , Humanos , Masculino , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/tratamiento farmacológico , Neurólogos , Embarazo , Complicaciones del Embarazo/diagnóstico por imagen , Complicaciones del Embarazo/tratamiento farmacológico , Médula Espinal/diagnóstico por imagen
7.
Eur J Neurol ; 24(3): 516-522, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-28139062

RESUMEN

BACKGROUND AND PURPOSE: Up-to-date information is needed on the extent to which neurologists treating multiple sclerosis (MS) in Europe are integrating rapidly evolving diagnostic criteria, disease-modifying therapies and recommendations for monitoring disease activity into their clinical practice. METHODS: A steering committee of MS neurologists used a modified Delphi process to develop case- and practice-based questions for two sequential surveys distributed to MS neurologists throughout Europe. Case-based questions were developed for radiologically isolated syndrome (RIS), clinically isolated syndrome (CIS), relapsing-remitting MS (RRMS) and RRMS with breakthrough disease. RESULTS: Multiple sclerosis neurologists from 11 European countries responded to survey 1 (n = 233) and survey 2 (n = 171). Respondents agreed that they would not treat the patients in the RIS or CIS cases but would treat a patient with a relatively mild form of RRMS. Choice of treatment was evenly distributed among first-line injectables and oral treatments for mild RRMS, and moved to second-line treatment as the RRMS case increased in severity. Additional results on RRMS with breakthrough disease are presented. CONCLUSIONS: Although there was general agreement on some aspects of treatment, responses to other management and clinical practice questions varied considerably. These results, which reflect current clinical practice patterns, highlight the need for additional MS treatment education and awareness and may help inform the development of MS practice guidelines in Europe.


Asunto(s)
Encuestas de Atención de la Salud , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/terapia , Adulto , Técnica Delphi , Progresión de la Enfermedad , Europa (Continente) , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple Recurrente-Remitente/diagnóstico , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Esclerosis Múltiple Recurrente-Remitente/terapia , Neurólogos , Punción Espinal , Encuestas y Cuestionarios
8.
Acta Neurol Scand ; 136(1): 54-58, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27766611

RESUMEN

OBJECTIVES: Although many neurologists are reluctant to use natalizumab in MS (multiple sclerosis) given the increased risk for PML (progressive multifocal leukoencephalopathy), trust was regained with the introduction of JCV antibody titres as a potent disease-modifying therapy. Literature shows that in patients with a negative JCV serology, the risk of PML is virtually non-existent. Unfortunately, seroconversion causes concern amongst many neurologists. Furthermore, when patients seroconvert, it is still unclear what the risk is of passing the important threshold of 1.5. MATERIALS & METHODS: JCV serology data of 161 patients were analysed, upon treatment with natalizumab at the University Hospital in Lille, France, between May 2012 and November 2014. RESULTS: Of the 81 patients who tested negative for JCV antibody at baseline, 23 (28.3%) seroconverted but only seven (8.6%) passed the threshold of 1.5. Of the 80 patients testing positive for JCV antibody at baseline, eight had an initial JCV antibody titre of 0.9 or lower of which only one of eight (12.5%) patients passed the threshold of 1.5 in the following 3 years. Eight of 15 (53.3%) patients passed this threshold if the initial serology was higher than 0.9. CONCLUSIONS: JCV-negative patients and JCV-positive patients with antibody levels below or equal to 0.9 both have a low risk of surpassing the 1.5 threshold.


Asunto(s)
Anticuerpos Antivirales/sangre , Factores Inmunológicos/efectos adversos , Virus JC/inmunología , Leucoencefalopatía Multifocal Progresiva/sangre , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Natalizumab/efectos adversos , Adulto , Femenino , Estudios de Seguimiento , Humanos , Leucoencefalopatía Multifocal Progresiva/epidemiología , Leucoencefalopatía Multifocal Progresiva/etiología , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Pruebas Serológicas
9.
Mult Scler ; 22(5): 649-58, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26227005

RESUMEN

OBJECTIVES: To assess the association between optic nerve double inversion recovery (DIR) hypersignal length and retinal axonal loss in neuroinflammatory diseases affecting optic nerves. METHODS: We recruited patients previously affected (> 6 months) by a clinical episode of optic neuritis (ON). We had 25 multiple sclerosis (MS) patients, eight neuromyelitis optica spectrum disorder (NMOSD) patients and two patients suffering from idiopathic caused ON undergo brain magnetic resonance imaging (MRI); including a 3-dimensional (3D) DIR sequence, optical coherence tomography (OCT) examination and visual disability evaluation. Evaluation criteria were retinal thickness/volume, optic nerve DIR hypersignal length and high/low contrast vision acuity. RESULTS: In the whole cohort, we found good associations (< 0.0001) between optic nerve DIR hypersignal length, peripapillary retinal nerve fiber layer thickness, inner macular layers volumes, and visual disability. We found subclinical radiological optic nerve involvement in 38.5% of non-ON MS eyes. CONCLUSIONS: Optic nerve DIR hypersignal length may be a biomarker for retinal axonal loss, easily applicable in routine and research on new anti-inflammatory or neuroprotective drug evaluation. Detection of subclinical ON with 3D-DIR in a non-negligible proportion of MS patients argues in favor of optic nerve imaging in future OCT MS studies, in order to achieve a better understanding of retinal axonal loss in non-ON eyes.


Asunto(s)
Esclerosis Múltiple/patología , Fibras Nerviosas/patología , Neuromielitis Óptica/patología , Nervio Óptico/patología , Neuritis Óptica/patología , Retina/patología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neuritis Óptica/diagnóstico , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos
10.
Mult Scler ; 21(2): 163-70, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24948688

RESUMEN

BACKGROUND: Retinal optical coherence tomography (OCT) permits quantification of retinal layer atrophy relevant to assessment of neurodegeneration in multiple sclerosis (MS). Measurement artefacts may limit the use of OCT to MS research. OBJECTIVE: An expert task force convened with the aim to provide guidance on the use of validated quality control (QC) criteria for the use of OCT in MS research and clinical trials. METHODS: A prospective multi-centre (n = 13) study. Peripapillary ring scan QC rating of an OCT training set (n = 50) was followed by a test set (n = 50). Inter-rater agreement was calculated using kappa statistics. Results were discussed at a round table after the assessment had taken place. RESULTS: The inter-rater QC agreement was substantial (kappa = 0.7). Disagreement was found highest for judging signal strength (kappa = 0.40). Future steps to resolve these issues were discussed. CONCLUSION: Substantial agreement for QC assessment was achieved with aid of the OSCAR-IB criteria. The task force has developed a website for free online training and QC certification. The criteria may prove useful for future research and trials in MS using OCT as a secondary outcome measure in a multi-centre setting.


Asunto(s)
Esclerosis Múltiple/patología , Retina/patología , Tomografía de Coherencia Óptica/normas , Atrofia/patología , Humanos , Estudios Prospectivos , Control de Calidad
11.
Eur J Neurol ; 21(1): 40-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-23895407

RESUMEN

BACKGROUND AND PURPOSE: BIONAT is a French multicentric phase IV study of natalizumab (NTZ)-treated relapsing-remitting multiple sclerosis (MS) patients. The purpose of this study was to collect clinical, radiological and biological data on 1204 patients starting NTZ, and to evaluate the clinical/radiological response to NTZ after 2 years of treatment. METHODS: Patients starting NTZ at 18 French MS centres since June 2007 were included. Good response to NTZ was defined by the absence of clinical and radiological activity. Data analysed in this first report on the BIONAT study focus on patients who started NTZ at least 2 years ago (n = 793; BIONAT2Y ). RESULTS: NTZ was discontinued in 17.78% of BIONAT2Y. The proportion of patients without combined disease activity was 45.59% during the first two successive years of treatment. Systematic dosage of anti-NTZantibodies (Abs) detected only two supplementary patients with anti-NTZ Abs compared with strict application of recommendations. A significant decrease of IgG,M concentrations at 2 years of treatment was found. CONCLUSIONS: The efficacy of NTZ therapy on relapsing-remitting MS in a real life setting is confirmed in the BIONAT cohort. The next step will be the identification of biomarkers predicting response to NTZ therapy and adverse events.


Asunto(s)
Anticuerpos Monoclonales Humanizados/uso terapéutico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Vigilancia de Productos Comercializados , Adulto , Estudios de Cohortes , Femenino , Humanos , Masculino , Natalizumab , Estudios Prospectivos
12.
Pathol Biol (Paris) ; 62(4): 204-8, 2014 Aug.
Artículo en Francés | MEDLINE | ID: mdl-25017794

RESUMEN

Autologous hematopoietic stem cell transplantation is a valid alternative to immunosuppressive treatment in patients with auto-immune disease; however, the role of this approach remains subject to debate. In the attempt to harmonize clinical practices between different French transplantation centers, the French Society of Bone Marrow Transplantation and Cell Therapies (SFGM-TC) set up its fourth annual series of workshops which brought together practitioners from all of its member centers. These workshops took place in September 2013 in Lille. In this article we give an overview regarding the indications of autologous stem cell transplantation in auto-immune diseases as well as recommendations regarding post-transplant follow-up of patients.


Asunto(s)
Enfermedades Autoinmunes/cirugía , Trasplante de Células Madre/métodos , Trasplante Autólogo/métodos , Francia , Humanos , Inmunosupresores , Cuidados Posoperatorios , Trasplante de Células Madre/efectos adversos , Trasplante de Células Madre/normas , Trasplante Autólogo/efectos adversos , Trasplante Autólogo/normas
13.
Rev Neurol (Paris) ; 170(6-7): 445-53, 2014.
Artículo en Francés | MEDLINE | ID: mdl-24746394

RESUMEN

INTRODUCTION: Cerebrotendinous xanthomatosis, a metabolic leukodystrophy with an autosomal recessive inheritance, is secondary to deficiency of sterol 27-hydroxylase, an enzyme involved in cholesterol catabolism. Classical symptoms include clinical or infraclinical xanthomas affecting the skin and tendons, early cataracts, neurological signs and diarrhea. Brain imaging reveals involvement of the dentate nuclei and periventricular white matter hyperintensities. The diagnosis is based on an increased cholestanol level in serum, confirmed by the presence of a mutation in the CYP27A1 gene. Treatment is based on chenodeoxycholic acid. METHOD: We report a retrospective multicentric study of 15 cases of cerebrotendinous xanthomatosis diagnosed in French adults. Clinical, molecular and MRI findings were recorded in all patients. RESULTS: The average age at diagnosis was 39years (range 27-65). Disease onset occurred in childhood in 73% of patients and in adulthood in 27%. All patients with a pediatric onset were diagnosed during adulthood (age range 28-65years). Clinical symptoms variably associated cerebellar syndrome, pyramidal syndrome, cognitive decline, epilepsy, neuropathy (sought in 10 of our patients, present in forms in 8), psychiatric disorders, cataract and xanthomas. One patient had an atypical presentation: monoparesis associated with xanthomas. Brain MRI was abnormal in all: findings consisted in T2-weighted hyperintensity of the dentate nuclei (47%), periventricular leuoencephalopathy (73%) which preferentially involved the posterior cerebral part (60%), leucoencephalopathy with a vascular pattern (7%), hyperintensity of the cortico-spinal tracts (53%), globi pallidi, corpus callosum and cerebral atrophy (33%). Serum cholestanol was elevated in 93% of patients. The most frequent mutation was 1183C>T (n=5/15). Under treatment with chenodeoxycholic acid, eight patients improved initially, followed by stabilization in five of them, and worsening in the others. Four patients died. CONCLUSION: Patients with the xanthoma-neurological disorder association should be tested for cerebrotendinous xanthomatosis. The disease often begins in childhood with a diagnostic delay but also in adulthood. Involvement of the dentate nuclei is specific but not sensitive and the supratentorial leucoencephalopathy is not specific but with an antero-posterior gradient. A vascular distribution and involvement of the corpus callosum are possible. Serum cholestanol assay is very reliable: an elevated level provides the diagnosis, which must nevertheless be confirmed by molecular biology.


Asunto(s)
Xantomatosis Cerebrotendinosa , Adulto , Edad de Inicio , Anciano , Sustitución de Aminoácidos , Encéfalo/patología , Ácido Quenodesoxicólico/uso terapéutico , Colestanotriol 26-Monooxigenasa/deficiencia , Colestanotriol 26-Monooxigenasa/genética , Femenino , Genes Recesivos , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación Missense , Estudios Retrospectivos , Evaluación de Síntomas , Xantomatosis Cerebrotendinosa/tratamiento farmacológico , Xantomatosis Cerebrotendinosa/epidemiología , Xantomatosis Cerebrotendinosa/patología
14.
Mult Scler ; 19(10): 1320-2, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23413296

RESUMEN

BACKGROUND: Neuromyelitis optica (NMO) is an inflammatory disease associated with optic neuritis and myelitis. Recently, several studies showed that optical coherence tomography (OCT) could be an interesting method for the evaluation of disease severity; however, to date there are no studies with a longitudinal follow-up of visual function in NMO. The aim of this study was to assess the ability of OCT to evaluate the progression of visual dysfunction in NMO. PATIENTS AND METHODS: A group of 30 NMO patients (thus, 60 eyes), comprised of 20 women and 10 men with a mean age of 43.7 +/- 12.3 years, were prospectively evaluated clinically and by a whole neuro-ophthalmological work-up, including: visual acuity (VA), fundoscopy, visual evoked potential (VEP), visual field (VF) and optical coherence tomography (OCT). All patients were tested at baseline (after a mean disease duration of 6.1 years) and after a mean time of follow-up of 18 months (range: 12-36 months). RESULTS: Mean VA was similar at the two evaluation times (0.77 +/- 0.36 versus 0.77 +/- 0.35). The mean VF defect decreased slightly, but the difference was not significant (-5.9 +/- 1.3 dB versus -5.3 +/- 1.3 dB). In contrast, the mean retinal thickness seen on OCT decreased from 87.4 +/- 23.3 µm to 79.7 +/- 22.4 µm (p = 0.006). These modifications were only observed in eyes with a past or a recent history of optic neuritis (-15.1 µm; p < 0.001) and not in eyes without any history of optic neuritis (-2.4 µm; not significant). Also, they occurred independently of the occurrence of relapses (n = 13) and especially optic neuritis episodes; however, the number of optic neuritis episodes was low (n = 5). CONCLUSION: OCT seems to be a more sensitive test than VA or VF for monitoring ophthalmological function in NMO and it seems to be helpful for the detection of infra-clinical episodes in patients with a past history of optic neuritis. Our results suggest that this easily performed technique should be used in the follow-up of NMO, but complementary studies are warranted to confirm its interest at an individual level.


Asunto(s)
Neuromielitis Óptica/complicaciones , Tomografía de Coherencia Óptica , Trastornos de la Visión/diagnóstico , Agudeza Visual/fisiología , Adulto , Estudios de Cohortes , Potenciales Evocados Visuales/fisiología , Femenino , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Trastornos de la Visión/etiología , Campos Visuales/fisiología
15.
Rev Neurol (Paris) ; 169(12): 965-9, 2013 Dec.
Artículo en Francés | MEDLINE | ID: mdl-24139243

RESUMEN

INTRODUCTION: Cavitary white matter changes are mainly described in leukodystrophies and especially in vanishing white matter disease. Large cavitary lesions are not typical for multiple sclerosis (MS). METHODS: We studied MS patients with large cavitary brain lesions. Patient characteristics, disease onset/duration/subtype, expanded disability status scale (EDSS), mini mental state (MMS), vanishing white matter disease genetic analysis, and MRI characteristics of the cavitary lesions were analyzed. RESULTS: Twenty patients were analyzed (6 men and 14 women). Mean age at disease onset was 37.6 (range 17-58). Mean disease duration was 10 years (range 2-20). Five patients had initial relapsing-remitting MS and nine patients had primary-progressive MS. Mean EDSS was 5.5 (range 2-8). Mean MMS was 20/30. Vanishing white matter disease genetic analysis was performed and negative in seven patients. Inferior corpus callosum lesions were seen in all patients with available sagittal FLAIR sequences. Cavitary lesions were strictly supratentorial, and located inside the diffuse leukoencephalopathy, with often a posterior predominance. CONCLUSION: MS patients with large cavitary lesions seem to represent a MS subgroup, predominantly women, with relatively late disease onset, predominantly primary-progressive type, relatively high EDSS scores, and severe cognitive dysfunction.


Asunto(s)
Esclerosis Múltiple/patología , Sustancia Blanca/patología , Adolescente , Adulto , Edad de Inicio , Evaluación de la Discapacidad , Progresión de la Enfermedad , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/psicología , Pruebas Neuropsicológicas , Adulto Joven
16.
Mult Scler ; 18(1): 55-63, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21844065

RESUMEN

BACKGROUND: Cyclophosphamide is still used in progressive forms of multiple sclerosis (MS) in view of its suggested efficacy and safety in the short term. No data exist on its long-term safety in MS, particularly on the risk of malignancy. OBJECTIVE: The objective of this study was to evaluate cancer incidence in MS after cyclophosphamide treatment. METHODS: We performed a historical prospective study in a cohort of MS patients treated with cyclophosphamide. We collected demographic data and medical history from medical databases and patient interviews. Reported cancers were histologically confirmed. Cancer incidence was compared with the incidence in the general population by estimating standardized incidence ratios (SIRs). RESULTS: We included 354 patients, with a median follow-up of 5 years (range 2-15) after cyclophosphamide treatment. Fifteen patients developed a solid cancer, which occurred at a median of 3 years (range 0.5-14) after cyclophosphamide introduction. The cumulative incidence of cancer after cyclophosphamide was 3.1% at 5 years and 5.9% at 8 years. We found no increase in cancer incidence after cyclophosphamide treatment in men (SIR = 0.83, 95% confidence interval [CI] 0.30-1.82), women (SIR = 0.99, 95% CI 0.43-1.95), or men and women combined (SIR = 0.92, 95% CI 0.50-1.54). CONCLUSION: We found no evidence of an increased risk of cancer associated with cyclophosphamide treatment in MS patients.


Asunto(s)
Ciclofosfamida/efectos adversos , Inmunosupresores/efectos adversos , Esclerosis Múltiple/tratamiento farmacológico , Neoplasias/epidemiología , Adulto , Anciano , Estudios de Cohortes , Femenino , Francia , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Adulto Joven
17.
Rev Neurol (Paris) ; 168 Suppl 3: S45-50, 2012 Apr.
Artículo en Francés | MEDLINE | ID: mdl-22721364

RESUMEN

Spasticity is a commonly seen symptom in patients with multiple sclerosis (MS). The vast majority of patients will suffer from this symptom during the course of the disease, and one- third of patients considers that spasticity contributes to a greater part of their disability. The symptom is frequently disabling. It can, however, allow some activities to be performed. Treatment of the symptom is sometimes deleterious, which is why strict assessment of the consequences of spasticity and anticipation of the outcome of antispastic treatment are necessary. Clinical scales, such as the Ashworth and Tardieu scales, are used in clinical practice. The essential element is not, however, assessment of the symptom, but its repercussions on activities of everyday life. It is important to make a list of what patients consider to be disabling situations to verify that they are truly consequences of spasticity. Considering the heterogeneity of clinical expression of spasticity in patients with MS, the use of a scale such as goal attainment scaling (GAS) can probably be totally adapted for the assessment of the effects of antispastic treatment.


Asunto(s)
Esclerosis Múltiple/epidemiología , Espasticidad Muscular/epidemiología , Actividades Cotidianas , Trastornos Neurológicos de la Marcha/etiología , Trastornos Neurológicos de la Marcha/fisiopatología , Trastornos Neurológicos de la Marcha/rehabilitación , Objetivos , Humanos , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/rehabilitación , Espasticidad Muscular/diagnóstico , Espasticidad Muscular/etiología , Espasticidad Muscular/fisiopatología , Espasticidad Muscular/rehabilitación , Examen Neurológico , Calidad de Vida , Reflejo Anormal , Índice de Severidad de la Enfermedad , Espasmo/etiología , Espasmo/fisiopatología
18.
Bull Soc Pathol Exot ; 105(4): 276-83, 2012 Oct.
Artículo en Francés | MEDLINE | ID: mdl-22886432

RESUMEN

The impact of autoimmunity on malaria-infection evolution reported by various works has led us to compare reactive patterns of self-dependent systemic IgG from 54 patients aged less than 15 years old to those from 46 subjects older than 15 years. These subjects were divided into 34 Plasmodium falciparum asymptomatic carriers (ACs), 30 cases of uncomplicated malaria (UM), and 36 patients suffering from cerebral malaria (CM) living in the same endemic area. The reactivity of the plasma antibodies against human brain tissue extract was assessed by western blotting. Comparative analysis of reactive bands (linear discriminant analysis, LDA) revealed the existence of patterns that distinguish, among the more susceptible subjects aged less than 15 years old, the different clinical forms. In contrast, in less susceptible subjects aged more than 15 years old, the patterns are homogenous and do not allow the separation of these clinical forms. This self-reactive repertoire might be witnessed as an imprint of the clinical tolerance acquired during the years of living in endemic areas. The singularity of this profile under the age of 15 years might have a prognostic value.


Asunto(s)
Envejecimiento/inmunología , Autoanticuerpos/inmunología , Inmunoglobulina G/inmunología , Malaria Cerebral/inmunología , Malaria Falciparum/inmunología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Especificidad de Anticuerpos , Autoanticuerpos/sangre , Autoantígenos/inmunología , Encéfalo/inmunología , Portador Sano/epidemiología , Portador Sano/inmunología , Niño , Preescolar , Côte d'Ivoire/epidemiología , Progresión de la Enfermedad , Susceptibilidad a Enfermedades , Enfermedades Endémicas , Exposición a Riesgos Ambientales , Femenino , Humanos , Tolerancia Inmunológica , Inmunoglobulina G/sangre , Lactante , Malaria Cerebral/epidemiología , Malaria Cerebral/etiología , Malaria Falciparum/epidemiología , Masculino , Persona de Mediana Edad , Proteínas del Tejido Nervioso/inmunología , Pronóstico , Adulto Joven
19.
Clin Immunol ; 138(3): 239-46, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21190899

RESUMEN

NMO-IgG is a specific biomarker of neuromyelitis optica (NMO) that targets the aquaporin-4 (AQP4) water channel protein. The current gold standard for NMO-IgG identification is indirect immunofluorescence (IIF). Our aim in this study was to develop a new quantitative cell-based assay (CBA) and to propose a rational strategy for anti-AQP4 Ab identification and quantification. We observed an excellent correlation between the CBA and IIF for NMO-IgG/anti-AQP4 detection. The CBA appeared more sensitive than IIF but on the other hand, IIF allows the simultaneous detection of various auto-Abs, underlining the complementarity between both methods. In conclusion, we propose to use IIF for the screening of patients at diagnosis in order to identify auto-Abs targeting the central nervous system. A highly sensitive, AQP4 specific and quantitative assay such as our CBA could be used thereafter to specifically identify the target of the Ab and to monitor its serum concentration under treatment.


Asunto(s)
Acuaporina 4/inmunología , Autoanticuerpos/análisis , Citometría de Flujo/métodos , Neuromielitis Óptica/diagnóstico , Neuromielitis Óptica/inmunología , Técnica del Anticuerpo Fluorescente Indirecta/métodos , Células HEK293 , Humanos , Inmunoglobulina G/inmunología
20.
Mult Scler ; 17(5): 578-93, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21228029

RESUMEN

BACKGROUND: Cladribine is a synthetic deoxyadenosine analogue in development as an oral multiple sclerosis (MS) therapy. OBJECTIVE: To report in detail the safety findings from the 96-week, phase III, double-blind CLARITY study, which evaluated treatment with cladribine tablets in relapsing-remitting MS. METHODS: A total of 1,326 patients were randomized 1:1:1 to two short-course regimens of cladribine tablets (3.5 or 5.25 mg/kg cumulative dose over 96 weeks) or placebo. Safety assessments included monitoring for adverse events (AEs), routine physical and neurologic examinations and frequent laboratory parameter assessments. RESULTS: Of the randomized patients, 88.6% completed treatment with cladribine tablets versus 86.3% with placebo. Lymphopenia was the most commonly reported AE in patients treated with cladribine tablets and was anticipated based on the mechanism of action. The incidence of infections was 48.3% with cladribine tablets and 42.5% with placebo, with 99.1% and 99.0% rated mild-to-moderate by investigators. Herpes zoster infections developed in 20 (2.3%) cladribine-treated patients; all cases were dermatomal. There were no herpes zoster infections in the placebo group. Nine (1.0%) patients experienced events related to uterine leiomyomas in the cladribine tablets groups versus one (0.2%) with placebo. Three isolated cases of malignancy were reported in cladribine-treated patients during the study; a fourth was reported during post-study surveillance. A pre-malignant cervical carcinoma in situ was also reported. The incidence of malignancies during the study did not exceed the expected rate in a population standardized for country, gender and age. CONCLUSION: The safety and tolerability profile observed in the CLARITY study together with the reported efficacy support the potential for cladribine tablets as an MS therapy.


Asunto(s)
Cladribina/efectos adversos , Inmunosupresores/efectos adversos , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Administración Oral , Adulto , Cladribina/administración & dosificación , Evaluación de la Discapacidad , Método Doble Ciego , Europa (Continente) , Herpes Zóster/inducido químicamente , Humanos , Inmunosupresores/administración & dosificación , Linfopenia/inducido químicamente , Masculino , Persona de Mediana Edad , Esclerosis Múltiple Recurrente-Remitente/diagnóstico , Neoplasias/inducido químicamente , Examen Neurológico , Examen Físico , Medición de Riesgo , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento , Estados Unidos , Adulto Joven
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