Cherin P.,Medecine Interne |
Rose C.,Hematologie |
De Roux-Serratrice C.,Medecine Interne |
Tardy D.,Actelion Pharmaceuticals |
And 9 more authors.
Journal of Inherited Metabolic Disease | Year: 2010
Background: Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic. Methods: We performed a national cross-sectional observational survey-the French Observatoire on Gaucher Disease (FROG)-in patients with GD1 between March 2005 and September 2006. The study included all patients over 18 years of age with confirmed GD1 who attended participating centers for regular follow-up. Results: One hundred and five patients were included, in whom we studied the prevalence and characteristics of relevant neurological symptoms associated with the neuraxis. Of these, 51 (49%) GD1 patients presented at least one neurological symptom. Four patients (4%) had Parkinson disease and 22 (21%) presented with at least one parkinsonian sign or at least one sign frequently associated with Parkinson disease. Five patients (5%) had a previous diagnosis of peripheral neuropathy. Other central nervous system symptoms were recorded in 20 (19%) patients and other peripheral nervous system symptoms in 39 (37%) patients. Conclusions: These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations. © 2010 SSIEM and Springer.
Goeb V.,University of Picardie Jules Verne |
Ardizzone M.,Service de Rhumatologie |
Arnaud L.,Service de Medecine Interne |
Avouac J.,French Institute of Health and Medical Research |
And 16 more authors.
Joint Bone Spine | Year: 2013
The use of TNFα antagonists must follow specific guidelines to ensure optimal effectiveness and safety. The French Society for Rheumatology (SFR) and Task Force on Inflammatory Joint Diseases (CRI), in partnership with several French learned societies, asked the French National Authority for Health (HAS) to develop and endorse good practice guidelines for the prescription and monitoring of TNFα antagonist therapy by physicians belonging to various specialties. These guidelines were developed, then, validated by two multidisciplinary panels of experts based on an exhaustive review of the recent literature and in compliance with the methodological rules set forth by the HAS. They pertain to the initial prescription of TNFα antagonists and to a variety of clinical situations that can arise during the follow-up of patients receiving TNFα antagonists (infections, malignancies, pregnancy, vaccination, paradoxical adverse events, surgery, use in older patients, and vasculitides). © 2013 Société française de rhumatologie.
Hachulla E.,Lille University of Science and Technology |
Hatron P.-Y.,Lille University of Science and Technology |
Carpentier P.,Grenoble University Hospital Center |
Agard C.,Medecine Interne |
And 15 more authors.
Annals of the Rheumatic Diseases | Year: 2015
Objective To assess the effect of sildenafil, a phosphodiesterase type 5 inhibitor, on digital ulcer (DU) healing in systemic sclerosis (SSc). Methods Randomised, placebo-controlled study in patients with SSc to assess the effect of sildenafil 20 mg or placebo, three times daily for 12 weeks, on ischaemic DU healing. The primary end point was the time to healing for each DU. Time to healing was compared between groups using Cox models for clustered data (two-sided tests, p=0.05). Results Intention-to-treat analysis involved 83 patients with a total of 192 DUs (89 in the sildenafil group and 103 in the placebo group). The HR for DU healing was 1.33 (0.88 to 2.00) (p=0.18) and 1.27 (0.85 to 1.89) (p=0.25) when adjusted for the number of DUs at entry, in favour of sildenafil. In the per protocol population, the HRs were 1.49 (0.98 to 2.28) (p=0.06) and 1.43 (0.93 to 2.19) p=0.10. The mean number of DUs per patient was lower in the sildenafil group compared with the placebo group at week (W) 8 (1.23±1.61 vs 1.79±2.40 p=0.04) and W12 (0.86±1.62 vs 1.51±2.68, p=0.01) resulting from a greater healing rate (p=0.01 at W8 and p=0.03 at W12). Conclusions The primary end point was not reached in intention-to-treat, partly because of an unexpectedly high healing rate in the placebo group. We found a significant decrease in the number of DUs in favour of sildenafil compared with placebo at W8 and W12, confirming a sildenafil benefit. © 2015 BMJ Publishing Group Ltd & European League Against Rheumatism.
Ardouin L.,Institute Of La Main Nantes Atlantique |
Lecoq F.-A.,Caen University Hospital Center |
Le Nen D.,Brest University Hospital Center |
Chirurgie de la Main | Year: 2014
The authors report on a case of dynamic compression of the ulnar nerve in the wrist by a supernumerary hypothenar muscle in a twenty-six-year-old female patient. For eight months, she had been suffering from acroparesthesias in the territory of the ulnar nerve with pain upon effort irradiating into the forearm. The initial clinical examination was rather non-conclusive and the electromyogram found no anomaly. Faced with this dynamic symptomatology, a provisional ultrasonography was performed, revealing a picture of apparent muscular appearance, confirmed on the MRI. Surgical exploration also confirmed the presence of this muscle located between the ulnar artery at the front and the ulnar nerve, which it was pressing against, at the back. It was a supernumerary fascicle of the flexor digiti minimi brevis for which was performed a complete surgical removal. At three months from neurolysis of the ulnar nerve and removal of the muscle, the preoperative symptoms had completely disappeared. This observation reminds us of the primordial role that imaging plays in detecting ulnar nerve compression at the wrist. Although the precision of an MRI as regards the description of supernumerary muscle of the wrist is not discussed, this case emphasizes the interest of ultrasonography. © 2014 Elsevier Masson SAS.
Valat J.-P.,University of Tours |
Genevay S.,University of Geneva |
Marty M.,University Paris Est Creteil |
Rozenberg S.,Rhumatologie |
Koes B.,Erasmus Medical Center
Best Practice and Research: Clinical Rheumatology | Year: 2010
Sciatica is a symptom rather than a specific diagnosis. Available evidence from basic science and clinical research indicates that both inflammation and compression are important in order for the nerve root to be symptomatic. Tumour necrosis factor-alpha (TNF-α) is a key mediator in animal models, but its exact contribution in human radiculopathy is still a matter of debate. Sciatica is mainly diagnosed by history taking and physical examination. In general, the clinical course of acute sciatica is considered to be favourable. In the first 6-8 weeks, there is consensus that treatment of sciatica should be conservative. We review and comment on the levels of evidence of the efficacy of patient information, advice to stay active, physical therapy analgesics, non-steroidal anti-inflammatory drugs (NSAIDs), epidural corticosteroid injections and transforaminal peri-radicular injections of corticosteroid. There is good evidence that discectomy is effective in the short term. but, in the long term, it is not more effective than prolonged conservative care. Shared decision making with regard to surgery is necessary in the absence of severe progressive neurological symptoms. Although the term sciatica is simple and easy to use, it is, in fact, an archaic and confusing term . For most researchers and clinicians, it refers to a radiculopathy, involving one of the lower extremities, and related to disc herniation (DH). As such, the term 'sciatica' is too restrictive as nerve roots from L1 to L4 may also be involved in the same process. However, even more confusing is the fact that patients, and many clinicians alike, use sciatica to describe any pain arising from the lower back and radiating down to the leg. The majority of the time, this painful sensation is referred pain from the lower back and is neither related to DH nor does it result from nerve-root compression. Although differentiating the radicular pain from the referred pain may be challenging for the clinician, it is of primary importance. This is because the epidemiology, clinical course and, most importantly, therapeutic interventions are different for these two conditions. It should, however, be emphasised that the quality of the available evidence is rather limited due to a considerable heterogeneity in the study populations included in the trials. This makes generalisation of findings across studies, and to routine clinical practice, a challenge . Prevalence estimates of radicular pain related to DH also vary considerably between studies, which is, in part, due to differences in the definitions used . A recent review showed that the prevalence of sciatic symptoms is rather variable, with values ranging from 1.6% to 43% . If stricter definitions of sciatica were used, for example, in terms of pain distribution and/or pain duration, lower prevalence rates were reported. Studies in working populations with physically demanding jobs consistently report higher rates of sciatica compared with studies in the general population. © 2009.