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Biomedical subjects

P Vermersch

Publications and source records attributed to P Vermersch.

At least 55 records · Page 3Linked to original sources
PubMed2004

Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.

Diseases due to mutations in the lamin A/C gene (LMNA) are highly heterogeneous, including neuromuscular and cardiac dystrophies, lipodystrophies, and premature ageing syndromes. In this study we characterized the neuromuscular and cardiac phenotypes of patients bearing the heterozygous LMNA R482W mutation, which is the most frequent genotype associated with the familial partial lipodystrophy of the Dunnigan type (FPLD). Fourteen patients from two unrelated families, including 10 affected subjects, were studied. The two probands had been referred for lipoatrophy and/or diabetes. Lipodystrophy, exclusively observed in LMNA-mutated patients, was of variable severity and limited to postpubertal subjects. Lipodystrophy and metabolic disturbances were more severe in women, even if an enlarged neck was a constant finding. The severity of hypertriglyceridemia and hirsutism in females was related to that of insulin resistance. Clinical muscular alterations were only present in LMNA-mutated patients. Clinical and histological examination showed an invalidating, progressive limb-girdle muscular dystrophy in a 42-yr-old woman that had been present since childhood, associated with a typical postpubertal FPLD phenotype. Six of eight adults presented the association of calf hypertrophy, perihumeral muscular atrophy, and a rolling gait due to proximal lower limb weakness. Muscular histology was compatible with muscular dystrophy in one of them and/or showed a nonspecific excess of lipid droplets (in three cases). Immunostaining of lamin A/C was normal in the six muscular biopsies. Surprisingly, calpain 3 expression was undetectable in the patient with the severe limb-girdle muscular dystrophy, although the gene did not reveal any molecular alterations. At the cardiac level, cardiac septal hypertrophy and atherosclerosis were frequent in FPLD patients. In addition, a 24-yr-old FPLD patient had a symptomatic second degree atrioventricular block. In conclusion, we showed that most lipodystrophic patients affected by the FPLD-linked LMNA R482W mutation show muscular and cardiac abnormalities. The occurrence and severity of the myopathic and lipoatrophic phenotypes varied and were not related. The muscular phenotype was evocative of limb girdle muscular dystrophy. Cardiac hypertrophy and advanced atherosclerosis were frequent. FPLD patients should receive careful neuromuscular and cardiac examination whatever the underlying LMNA mutation.

Adolescent↗
PubMed2003

Double-blind crossover study with dolasetron mesilate, a 5-HT3 receptor antagonist in cerebellar syndrome secondary to multiple sclerosis.

Cerebellar syndrome is one of the most disabling developments in multiple sclerosis (MS). In neurodegenerative disorders, cerebellar syndrome is thought to be related to a neurochemical deficit of 5-hydroxytryptamine (5-HT). Previous studies found that a levorotatory form of 5-hydroxytryptophan, a 5-HT precursor, and ondansetron, a 5-HT(3) receptor antagonist, decreased cerebellar symptoms in Friedreich's ataxia and MS. We studied the effect of another 5-HT(3) receptor antagonist, dolasetron mesilate, on cerebellar syndrome in MS patients.Thirty-four MS patients were included in a placebo-controlled double-blind crossover study. They received a single dose of intravenous dolasetron mesilate or placebo. A quantitative evaluation of cerebellar syndrome using the nine-hole peg test and an ataxia score comprising static and kinetic parameters were performed before and after each treatment. No statistical difference was observed in the dolasetron mesilate group, compared with the placebo group. There was, however, inter-individual variability in the treatment response. This double-blind study on cerebellar syndrome in MS patients did not confirm the positive effect of dolasetron mesilate suggested by previous studies.

Adolescent↗
PubMed2003

Prospective study of patients presenting with acute partial transverse myelopathy.

BACKGROUND: The clinical and radiological characteristics of myelopathy in multiple sclerosis (MS) are relatively well known. Nevertheless, it remains difficult for the clinician to ascertain conversion to MS after a first episode of acute partial transverse myelopathy (APTM). OBJECTIVE: The aims of this study were to define predictive factors for conversion to clinically definite MS after an APTM and to define predictive factors for disease severity. PATIENTS AND METHODS: Between 1994 and 2001, we prospectively included 55 patients presenting with a first episode of APTM. Three patients were lost during the follow-up. We evaluated clinical signs, spinal cord and brain MRI, cerebrospinal fluid (CSF) and visual evoked potentials on admission. After a mean followup of 35 months (range 12-86), we evaluated the diagnosis and, among the MS group, the severity of the disease. RESULTS: Of the 52 APTM patients who completed the study, 30 became clinically definite MS. The predictive factors for conversion to MS were: initial sensory symptoms, latero-posterior spinal cord lesion, abnormal brain MRI and oligoclonal bands in CSF. In the MS group, the number of spinal cord lesions on MRI was the only predictive factor for a poor outcome, being statistically correlated with a higher number of relapses. CONCLUSION: On the basis of our results, we propose that, in patients with APTM, sensory symptoms, oligoclonal bands and brain MRI are predictive factors for subsequent conversion to clinically definite MS and that within the latter patients the number of spinal cord lesions on MRI is the only predictive factor for a poor outcome.

Acute Disease↗
PubMed2003

Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene.

OBJECTIVE: To report the clinical and electrophysiological characteristics of a family presenting Charcot-Marie-Tooth disease (CMT) associated with autonomic nervous system disturbances. METHODS: We studied nerve conduction values, postural adaptation, sympathetic skin reflex, the variation in heart rate by the Valsalva ratio and pupillometry in 7 members of a French family in which CMT due to a Thr124Met mutation in the myelin protein zero (MPZ) gene was diagnosed. RESULTS: Clinical and laboratory evidence of autonomic nervous system disturbances were found in the affected individuals. The clinical phenotype was characterized by sensorimotor peripheral neuropathy, defined as axonal type by electrophysiological studies, and was associated with severe pain, bladder dysfunction, sudorimotor disturbances and abolished pupillary reflex to light. Moreover, two patients had severe restrictive respiratory insufficiency requiring noninvasive mechanical ventilation. CONCLUSIONS: Our study demonstrates that autonomic disturbances may be one of the major clinical signs associated with CMT secondary to MPZ gene mutation in codon 124. Testing of pupillary reflex allows the discrimination of affected and unaffected subjects in our family. However, involvement of the autonomic nervous system in this type of neuropathy is unclear and further studies are required to elucidate the role of the MPZ gene in the autonomic nervous system.

Adult↗
PubMed2003

Multiple sclerosis, interferon beta and clinical thyroid dysfunction.

The objective of this study was to investigate frequency and presentation of clinical thyroid dysfunction in patients treated with interferon beta (IFN-beta). We have collected the cases of clinical thyroid dysfunction in 700 consecutive patients receiving IFN-beta for multiple sclerosis (MS). Five patients (four women, one man) treated with IFN-beta1b developed hyperthyroidism. Three of them have secondary progressive MS, and two have relapsing-remitting MS. It was necessary to stop IFN-beta in three cases; these patients still require carbimazole after several months. In the two other cases, hyperthyroidism disappeared spontaneously. Two patients (one man and one woman) treated with IFN-beta1a developed hypothyroidism. One of them required l-thyroxine. Lastly, an increased thyroid volume without modification of thyroid hormones plasma levels was discovered in a patient receiving IFN-beta1a. Among patients treated with IFN-beta, clinical thyroid dysfunction is much rarer than laboratory thyroid dysfunction. However, this side-effect is sometimes severe.

Adult↗
PubMed2003

Is Devic's neuromyelitis optica a separate disease? A comparative study with multiple sclerosis.

Devic's neuromyelitis optica (NMO) associates optic neuritis and myelopathy without other neurological signs. Many patients with NMO may be diagnosed as having multiple sclerosis (MS). However, there have been no previous studies comparing these two pathologies and it is still unclear if NMO is a separate entity or a subtype of MS. In the present study, we compared a series of NMO patients with a series of MS patients for whom optic neuritis or myelopathy was the presenting symptom, in order to determine the place of NMO in the spectrum of MS. We retrospectively studied 30 patients diagnosed with NMO and we compared these patients with 50 consecutive MS cases revealed by optic neuritis or acute myelopathy. MS patients were only included if a relapse occurred demonstrating time and space dissemination. We compared the two groups in terms of clinical presentation, laboratory findings (MRI and CSF) and clinical outcome. NMO patients were older and more frequently women than MS patients but the difference was not significant. CSF and MRI data were clearly different: oligoclonal bands (OCB) were found in 23% of NMO cases and 88% of MS (P < 0.001), abnormal brain MRI data were observed in 10% of NMO cases and 66% of MS (P < 0.001) and a large spinal cord lesion was observed in 67% of NMO cases and 7.4% of MS cases (P < 0.001). Clinical outcome was evaluated as more severe in the NMO group (P < 0.001). On the basis of clinical data, all NMO patients but three had dissemination in time and space. When we included MRI parameters, only two of the NMO patients met criteria for MS and one of the MS patients met criteria for NMO. Our study demonstrates that NMO and MS should be considered as two different entities. The respective criteria for NMO and MS were able to distinguish these two pathologies but only when MRI data were applied. This finding could have implications for future therapeutic trials.

Adult↗
PubMed2003

[Hypertrophy of the biceps surae after post-radiation lumbar radiculopathy].

A 44 year-old man who underwent radiotherapy for Hodgkin disease in 1987 developed in 1996 pain and calf hypertrophy. Nerve conduction studies were normal and needle electromyography revealed a neurogenic pattern in the L-5 and S-1 roots, predominantly on the left side. An abdominal tomodensitometry revealed a splenic and left renal atrophy. Cerebrospinal fluid analysis showed an elevated protein level (1.35 g/l) and no malignant cell. Spinal cord magnetic resonance imaging revealed no abnormality of the roots and the cauda equina. Muscular hypertrophy, as the consequence of post-irradiation lumbar radiculopathy is rarely reported. We discuss the possible mechanism of neurogenic muscular hypertrophy.

Adult↗
PubMed2002

Devic's neuromyelitis optica: clinical, laboratory, MRI and outcome profile.

Devic's neuromyelitis optica (NMO) associates optic neuritis and myelitis without any other neurological signs. Many patients with NMO may be diagnosed as having multiple sclerosis (MS), optic neuritis and myelitis being the inaugural symptom in 20% and 5% of MS cases, respectively. The aim of our study was to compare a new NMO cohort with recent studies and to try to determine the place of NMO in the spectrum of MS. We retrospectively studied 13 patients with a complete diagnostic workup for NMO. We compared our data with the most recent studies on NMO and with the criteria proposed by Wingerchuck et al. [Neurology 53 (1999) 1107]. We also determined whether these patients fulfilled the diagnostic criteria for MS. Thirteen patients (10 women and three men, with a mean age of 37.4 years) were included in the study. We found similar results to previously published data, except for an association with vasculitis in 38% of our cases. All but three of the patients fulfilled the clinical criteria for MS and two patients fulfilled both clinical and MRI criteria for MS. However, if we applied more restrictive criteria concerning spinal cord and brain MRI and CSF, none of our NMO patients fulfilled the MS diagnostic criteria. NMO might therefore be differentiated from MS by the application of more stringent criteria. Furthermore, all NMO patients should be investigated for vasculitis, even those with no history of systemic disease.

Adrenal Cortex Hormones↗
PubMed2002

Interferon beta1a (Avonex) treatment in multiple sclerosis: similarity of effect on progression of disability in patients with mild and moderate disability.

OBJECTIVE: To compare clinical responses to once-weekly intramuscular interferon-beta-1 a [IFNbeta-1 a, Avonex, Biogen] in multiple sclerosis (MS) patients with baseline Expanded Disability Status Scale (EDSS) < or = 3.5 or > 3.5. METHODS: Patients with relapsing-remitting MS (RRMS), 124 with baseline EDSS < or = 3.5 and 64 RRMS patients with EDSS > 3.5, were consecutively recruited to receive IFNbeta-1 a 30 microg as a once weekly injection for 18 months. The primary endpoint of the study was the number of patients in each group with sustained worsening in disability, defined as 1-point deterioration in EDSS that persisted for at least 6 months during the 18 month follow-up period. Subordinate endpoints included relapse rates and the number of treatment dropouts. RESULTS: Among patients with baseline EDSS < or = 3.5,16.9% experienced a deterioration in EDSS of at least 1 point; 22.5% experienced a deterioration of at least 0.5%. Corresponding rates in patients with baseline EDSS > 3.5 were 23.4% and 29% respectively (no significant differences between patients stratified according to baseline EDSS status). The proportion of patients discontinuing therapy was significantly higher in patients with baseline EDSS > 3.5 than in those with baseline EDSS < or = 3.5 (16/64 versus 12/124; p = 0.005). At the conclusion of follow-up, IFNbeta-1 a therapy was associated with a 31.7% reduction in relapse rate in patients with baseline EDSS < or = 3.5 and a 37% reduction in those with baseline EDSS > 3.5 (difference not significant). CONCLUSIONS: During 18 months of treatment and follow-up, no difference was observed in clinical responses to IFNbeta-1 a between RRMS patients with mild and moderate disability but discontinuation of therapy was more frequent in the more disabled group.

Adjuvants, Immunologic↗
PubMed2002

Interferon beta in multiple sclerosis: relationship between sustained serum IgG levels and clinical outcome.

We investigated the effects of interferon beta-1a (IFN beta-1a) on specific response towards two immunodominant MBP peptides and on global production of IgG. We evaluated 54 sera from multiple sclerosis (MS) patients at baseline and 1 year after treatment. We did not observe any modification of immune response to the MBP peptides but we noted a significant decrease in mean IgG concentrations in patients with progression of the disease but not in stable patients. These results suggest that IFN beta1a restores or maintains a beneficial immune response.

Adult↗
PubMed2002

[Interferons and neurologic diseases].

PURPOSES: Therapeutic strategies using interferons in neurology are limited to multiple sclerosis. In this disease, only beta interferons are used and now considered as a first line treatment in the relapsing-remitting forms of the disease. MAIN POINTS: Beta interferons have reduced the relapse rate by approximately 3% and also reduced the risk of disability progression. They have also favorably influenced the brain lesions on MRI. Numerous data have stressed the importance of starting treatment as early as possible. In the secondary form of the disease, the impact of beta interferons are still discussed. In some clinical endpoints, a dose-response has been demonstrated, probably related to the frequency of injections. Side effects are acceptable despite the high frequency of flu-like syndrome. PERSPECTIVES: Recent data argue for beta interferon treatment after the first demyelinating episode in subjects at risk for early new relapses. In some patients, in cases of treatment failure, combination strategies, including beta interferons, should be addressed in the near future. Interferons were also tested with disappointing results in other neuro-inflammatory disorders, such as chronic inflammatory demyelinating neuropathies.

Adjuvants, Immunologic↗
PubMed2002

Quality of life in multiple sclerosis: influence of interferon-beta1 a (Avonex) treatment.

BACKGROUND: Numerous data argue for initiating treatment with interferon-beta (IFN-beta) at an early stage in multiple sderosis (MS). The consequences of its use may negatively influence the MS patient's quality of life (QoL). OBJECTIVE: To evaluate the QoL of MS patients before and after a one-year period of treatment with IFN-beta1a (Avonex). PATIENTS AND METHODS: QoL was assessed using the SF-36 in 121 relapsing-remitting MS patients. We compared QoL before and after treatment and with data from a normal population. We also studied the possible influence of disease progression on the SF-36 scores. RESULTS: One hundred six patients completed the study (87%). Compared to a normal population, patients were, at baseline, worse off for all QoL scales, varying from a minimum decrease of 0.73 SD in mental health, to a maximum decrease of 1.55 SD in general health. After treatment, we found no significant changes in any of the QoL scores, except for physical function, where we noted a slight but significant decrease (p = 0.03). Furthermore, there was no significant change either in the physical component summary (PCS) or mental component summary (MCS). The 'reported health transition' item was significantly improved compared to baseline (p = 0.001). At indusion, significant correlations were found between EDSS scores and scores of physical function (p < 0.001), role - physical (p < 0.01), general health and social function (both p < 0.01), and with the PCS (p < 0.01). Patients with dinical relapses and/or disability progression had a more significant decease in physical function (p < 0.05) and also in social function (p < 0.05). CONCLUSION: The QoL, assessed by the SF-36 scale, is correlated with disability in MS. IFN-beta1a treatment (Avonex) has no negative effect on MS patient's QoL.

Adjuvants, Immunologic↗
PubMed2002

[Treatment of progressive multiple sclerosis with cyclophosphamide].

Intravenous (IV) cyclophosphamide is currently used in secondary progressive (SP) and Primary progressive (PP) Multiple Sclerosis (MS) but its efficacy remains uncertain. Furthermore, it is necessary to determine which MS should be successfully treated with IV cyclophosphamide. We retrospectively investigated 111 consecutive patients with progressive MS (21 PPMS and 90 SPMS) treated in an open label fashion with IV cyclophosphamide. We analysed clinical data (gender, age, duration of progression, primary versus secondary MS). The treatment response was assessed by EDSS change after 6 months and 1 year of treatment. The annual relapse average decreased from 1.92 before treatment to 0.39 during the treatment. Age and gender did not influence response to therapy. We did not find any difference of response between PPMS and SPMS. Duration of the progressive phase in SPMS was not a predictive factor of efficacy. A better response was noted in SPMS patients with surimposed relapses than in patients without relapses during the year before treatment (p<0.05). Furthermore, the better response in SPMS patients with relapses before treatment suggests that it is necessary to treat when MS is still in an inflammatory stage.

Adult↗
PubMed2002

[Primary progressive forms of multiple sclerosis: application of the new diagnostic criteria in French].

Approximately 15 p.100 of all cases of multiple sclerosis (MS) are primary progressive multiple sclerosis (PPMS). Diagnosis is however frequently delayed due to the lack of relapse. The commonly used Poser criteria established in 1983 are not directly applicable to this subgroup of MS patients. In 2000, Thompson et al proposed new diagnostic criteria for PPMS. The aim of our study was to apply retrospectively these new criteria to a cohort of patients from northern France (G-SEP cohort). The cohort included 184 patients (94 women and 90 men, sex ratio=1.04). Mean age at disease onset was 40.3 years (18-67 years) and mean follow-up was 9.9 (1-39 years). Only one patient was older than 65 years but 13 patients (7.1 p.100) were younger than 25 years. Patients were classed as having definite, probable or possible PPMS on the basis of clinical, MRI, cerebrospinal fluid and visual evoked potential (VEP) data. Most of the patients (61.4 p.100) had one symptom at onset; spastic paraparesis was frequent (79 p.100). Mean delay to diagnosis was 4.4 years. Ten patients (5.4 p.100) were surgically treated for cervic arthrosic myelopathy. Mean EDSS score at the end of follow-up was 5.8 (3-10). MRI was positive in 87.3 p.100 of the patients. Oligoclonal bands were found in 78.2 p.100. VEPs ware abnormal in 79.9 p.100 of the patients. Applying the Thompson criteria, 57.7 p.100 of the patients had definite PPMS, 38.7 p.100 probable PPMS. Our results are very similar to previous studies and confirm the usefulness of the new proposed criteria, which however should be prospectively tested to determine sensitivity and specificity in a new cohort of patients.

Adolescent↗
PubMed2002

[Chronic polyradiculoneuritis disclosing sarcoidosis].

Peripheral Nervous System (PNS) involvement occurs in 10 to 40 percent of patients presenting with sarcoidosis. Axonal polyneuropathies and mononeuropathies are the most frequently reported whereas acute or chronic polyradiculoneuritis are rarely described. We report the case of a 54 year-old-woman admitted for a progressive sensorimotor deficit of the lower limbs. Bilateral ocular redness corresponding to an uveitis was also observed. Neurological examination and electrophysiological data were consistent with a chronic polyradiculoneuritis. The neurological status of the patient improved after six months of treatment with oral corticotherapy associated with immunosuppressive treatment. Our case allows a review of the literature concerning PNS involvements and treatments in sarcoidosis.

Brain↗
PubMed2002

[Candida albicans meningoencephalomyeloradiculitis].

A 25-year-old immunocompetent male heroin addict was admitted for acute confusion associated with gait disorders of three month duration. The diagnosis was meningoencephalomyeloradiculitis secondary to Candida albicans infection. Outcome was good after a 6-month regimen with antifungal drugs. Neurological complications of Candida albicans infection are rare and prognosis is generally poor. This case report illustrates diagnostic and therapeutic difficulties encountered.

Adult↗
PubMed2002

[Epstein-Barr meningoencephaloradiculitis in a immunocompetent woman].

Neurological manifestations of viral diseases are predominantly secondary to herpes viridae infections. Among them Epstein-Barr (EBV) infections are rare particularly in immunocompetent adults. A 52 year old right-handed woman was admitted for progressive walking difficulties. She presented a proximal limb weakness with proprioceptive ataxia and pain because of lumbosacral radiculopathy confirmed by electromyography. Drowsiness and mnesic troubles were explained by encephalitis on electroencephalography. Brain MRI showed an enhancement of the sub-arachnoïd spaces. The diagnosis of meningoencephaloradiculitis due to primary EBV infection was supported by a mononucleosis syndrome, an increased antibody level and positive EBV PCR in the CSF. Clinical features spontaneously improved without antiviral treatment. Primary EBV infections are rare in adults, as more than 95p.cent of them are positive for EBV serology after 20 years of age. EBV PCR is CSF in an important diagnostic tool allowing to stop antiviral therapies in these cases having a good prognosis.

Antibodies, Viral↗