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1.
Neurology ; 97(1): e23-e33, 2021 07 06.
Article in English | MEDLINE | ID: mdl-33931534

ABSTRACT

OBJECTIVE: To evaluate sleepiness and central hypersomnia in multiple sclerosis (MS)-associated fatigue, we performed long-term polysomnography in patients with MS and healthy controls. METHODS: Patients with MS and healthy controls completed questionnaires on sleep, fatigue, sleepiness, and depression. They underwent nocturnal polysomnography, multiple sleep latency tests, and bed rest 24-hour polysomnography. Patients were divided into 3 groups (fatigue and sleepiness, fatigue and no sleepiness, neither fatigue nor sleepiness). RESULTS: Among 44 patients with MS, 19 (43.2%) had fatigue and sleepiness, 15 (34%) had only fatigue, and 10 (22.7%) had neither fatigue nor sleepiness. Compared to 24 controls, patients with fatigue and sleepiness had higher REM sleep percentages (median [interquartile range] 20.5% [19.6-24.7] vs 18.1% [12.6-20.6]), lower arousal indexes (12.7 [7.5-17.0] vs 22.4 [14.3-34.4]), and shorter daytime mean sleep latencies (8.6 [6.3-14.3] vs 16.6 [12.6-19.5] min). Restless leg syndrome, periodic leg movements, and sleep apnea had similar frequencies between groups. Central hypersomnia was found in 10 (53%) patients with fatigue and sleepiness (narcolepsy type 2, n = 2), in 2 (13%) patients with fatigue only, and in 3 (30%) patients with neither fatigue nor sleepiness. Patients with central hypersomnia were younger and sleepier than those without hypersomnia, but had similar levels of fatigue, disability, depression, cognitive performance, and frequencies of the human leukocyte antigen DQB1*0602 genotype. The severity of fatigue increased with higher depression scores, higher sleepiness severity, and lower sleep efficacy. CONCLUSION: Central hypersomnias are frequent in MS when fatigue and sleepiness are present. Screening them through polysomnography studies is recommended.


Subject(s)
Disorders of Excessive Somnolence/etiology , Fatigue/etiology , Multiple Sclerosis/complications , Polysomnography/methods , Adult , Aging , Cognition , Depression/complications , Disability Evaluation , Disorders of Excessive Somnolence/epidemiology , Fatigue/epidemiology , Female , Humans , Male , Middle Aged , Multiple Sclerosis/epidemiology , Outpatients , Psychomotor Performance , Rest , Restless Legs Syndrome/complications , Sleep Apnea Syndromes/complications , Sleep Latency , Sleep Stages , Sleep, REM
2.
Neurourol Urodyn ; 34(1): 32-6, 2015 Jan.
Article in English | MEDLINE | ID: mdl-24115110

ABSTRACT

AIMS: Lower urinary tract dysfunctions (LUTD) are very common in Multiple Sclerosis (MS), have a significant social impact, while the organic impact is discussed. We studied urinary complications and their risk factors in our cohort of MS patients, in order to improve the management of LUTD in MS. METHODS: Between 2004 and 2009, all patients affected by MS and managed for LUTD were included in a retrospective study. We studied the epidemiological data (age, gender), the clinical data (duration of MS, EDSS score, progression of MS) and the paraclinical data (urinary creatinine clearance, urine culture, urinary tract ultrasonography and in some cases urodynamic assessment and cystography). We then identified the urinary complications and their risk factors. RESULTS: Three hundred twenty eight patients, mean age 49.9 ± 12.3 years, with a MS for 14.3 ± 10 years on average and with a median EDSS score equal to 6 (1-9), were managed for LUTD. One hundred seventy eight (54%) patients developed one or more urinary complications. We identified duration of MS greater than 8.5 years and an EDSS above 7 as risk factors. CONCLUSION: Urinary complications are common in symptomatic MS, these results imply screening and specialized care to limit the impact on the quality of life but also to prevent urinary complications.


Subject(s)
Lower Urinary Tract Symptoms/etiology , Multiple Sclerosis/complications , Adult , Age Factors , Cohort Studies , Disease Progression , Female , Humans , Male , Middle Aged , Quality of Life , Retrospective Studies , Risk Factors
3.
PLoS One ; 8(6): e66127, 2013.
Article in English | MEDLINE | ID: mdl-23823627

ABSTRACT

BACKGROUND: The Control Preference Scale (CPS) is the most frequently used measure of patients' preferred roles in treatment decisions. We revised the original CPS and developed a new computerized patient self-administered version (eCPS). We used the eCPS to assess role preferences, and their determinants, in Italian and German people with multiple sclerosis (MS). METHODS: New cartoons were produced, based on MS health professional and patient input/feedback and previous findings, and pilot tested on 26 Italian and German MS patients. eCPS acceptability and reliability (weighted kappa statistic, wK) in comparison to the original tool, was determined in 92 MS patients who received both CPS versions in random order. RESULTS: The new cartoons were well accepted and easily interpreted by patients, who reported they based their choices mainly on the text and considered the images of secondary importance. eCPS reliability was moderate (wK 0.53, 95% confidence interval [CI] 0.40-0.65) and similar to the test-retest reliability of face-to-face administration assessed in a previous publication (wK 0.65, 95% CI 0.45-0.81). Higher education (odds ratio [OR] 3.74, 95% CI 1.00-14.05) and German nationality (OR 10.30, 95% CI 3.10-34.15) were associated with preference for an active role in the logistic model. CONCLUSIONS: The newly devised eCPS was well received and considered easy to use by MS patients. Reliability was in line with that of the original version. Role preference appears affected by cultural characteristics and (borderline statistical significance) education.


Subject(s)
Computers , Internal-External Control , Multiple Sclerosis/psychology , Role , Germany , Humans , Italy , Reproducibility of Results , Surveys and Questionnaires
4.
Urology ; 80(4): 852-7, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22939550

ABSTRACT

OBJECTIVE: To assess the morbidity, mortality, and impact on quality of life and renal function after laparoscopic cystectomy and ileal conduit in patients with multiple sclerosis with lower urinary tract symptom refractory to conservative management. MATERIALS AND METHODS: A prospective study was conducted between February 2004 and December 2010 on 44 consecutive patients with multiple sclerosis who underwent laparoscopic cystectomy and ileal conduit for lower urinary tract symptom. Median Expanded Disability Status Scale score was 8 (6.5-8.5). Mean duration of multiple sclerosis was 19.3 ± 7.9 years. The quality of life was determined using the validated Qualiveen questionnaire preoperatively and at minimum 6 months after the surgery. RESULTS: No conversion to open surgery was required. Postoperative morbidity rate was 18.2%; minor (Clavien ≤ 2) and major (Clavien ≥ 3) complications occurred in 13.6% and 6.8%, respectively. Mean follow-up was 44.5 ± 20.6 months. Complications noted were asymptomatic ureteroileal stenosis (n = 6) and pyelonephritis (n = 3). Neurological status and Expanded Disability Status Scale score remained stable throughout. Renal function remained unchanged. Limitations, constraints, and specific urinary impact index subscores of the Qualiveen were significantly improved at 6 months time. CONCLUSION: Laparoscopic cystectomy and ileal conduit for lower urinary tract symptom in advanced multiple sclerosis is a safe procedure with low complications. Neurological status and renal function remain stable and quality of life improves and continues to remain improved during long-term follow-up, suggesting this to be an attractive option in patients with advanced multiple sclerosis with lower urinary tract symptom refractory to conservative treatment.


Subject(s)
Cystectomy , Lower Urinary Tract Symptoms/surgery , Multiple Sclerosis/complications , Quality of Life , Urinary Diversion , Adult , Constriction, Pathologic/etiology , Cystectomy/adverse effects , Disability Evaluation , Female , Humans , Kidney/physiology , Laparoscopy/adverse effects , Lower Urinary Tract Symptoms/etiology , Male , Middle Aged , Multiple Sclerosis/physiopathology , Neurologic Examination , Pyelonephritis/etiology , Surveys and Questionnaires , Ureter/pathology , Urinary Diversion/adverse effects
5.
J Neuroimmunol ; 193(1-2): 188-94, 2008 Jan.
Article in English | MEDLINE | ID: mdl-18068811

ABSTRACT

We explored the parameters of central and peripheral tolerance in patients with stable relapsing-remitting multiple sclerosis, treated or not with IFN-beta. TREC-positive T cells were lower in patients compared with controls, mainly in CD4+ subset, compatible with a thymus dysfunction or an expansion of peripheral lymphocytes. Compared to controls, the frequency of activated CD4+CD25+ T cells was higher in patients without modification of the CD4+CD25(high) T cell proportion. The IFN-beta-treatment did not modify the TREC-positive cell frequency nor the naive/memory T cell subset percentage but was associated with lower blood lymphocyte count and a lower frequency of CD4+CD45RC(high) subset.


Subject(s)
Interferon-beta/therapeutic use , Multiple Sclerosis, Relapsing-Remitting/immunology , T-Lymphocyte Subsets/immunology , Thymus Gland/immunology , Adult , Female , Humans , Leukocyte Common Antigens/analysis , Lymphocyte Culture Test, Mixed , Male , Middle Aged , Multiple Sclerosis, Relapsing-Remitting/drug therapy , Protein Isoforms
6.
Ann Neurol ; 58(6): 958-63, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16240368

ABSTRACT

The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and deafness. Audiometry suggested that the sensorineural deafness resulted from auditory neuropathy. Skin fibroblasts showed hyperfragmentation of the mitochondrial network, decreased mitochondrial membrane potential, and adenosine triphosphate synthesis defect. In addition, OPA1 was found to be widely expressed in the sensory and neural cochlear cells of the guinea pig. Thus, optic atrophy and deafness may be related to energy defects due to a fragmented mitochondrial network.


Subject(s)
GTP Phosphohydrolases/genetics , Hearing Loss, Sensorineural/genetics , Optic Atrophy, Autosomal Dominant/genetics , Point Mutation , Adolescent , Adult , Animals , Audiometry , Child , Cochlea/metabolism , Cricetinae , Female , Fibroblasts/metabolism , Genotype , Hearing Loss, Sensorineural/metabolism , Humans , Male , Mitochondria/metabolism , Optic Atrophy, Autosomal Dominant/metabolism , Oxygen Consumption , Phenotype , Skin/cytology
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