In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a ...degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. A national strategy was adopted during a period of 1 to 2months concerning treatments usually administered in hospitalization. NM patients treated with steroid/immunosuppressants for a dysimmune pathology should continue all of their treatments in the absence of any manifestations suggestive of COVID-19. A frequently asked questions (FAQ) sheet has been compiled and updated on the FILNEMUS website. Various support systems for self-rehabilitation and guided exercises have been also provided on the website. In the context of NM diseases, particular attention must be paid to two experimental COVID-19 treatments, hydroxycholoroquine and azithromycin: risk of exacerbation of myasthenia gravis and QT prolongation in patients with pre-existing cardiac involvement. The unfavorable emergency context related to COVID-19 may specially affect the potential for intensive care admission (ICU) for people with NMD. In order to preserve the fairest medical decision, a multidisciplinary working group has listed the neuromuscular diseases with a good prognosis, usually eligible for resuscitation admission in ICU and, for other NM conditions, the positive criteria suggesting a good prognosis. Adaptation of the use of noninvasive ventilation (NIV) make it possible to limit nebulization and continue using NIV in ventilator-dependent patients.
Abstract Background The Functional Reach Test (FRT) is a clinical assessment of the risk of falls in elderly or disabled subjects. However, the FRT is complex (involving the leg, hip and trunk ...joints) and previous studies have shown that several different strategies can be used to complete the test. Objectives To describe the strategies used by healthy, adult subjects when performing the FRT and to assess the influence of age on choice of the strategy. Method This was a pilot study in which 29 non-fallers (18 under-50s and 11 over-75s) were asked to perform the FRT on a force platform in a motion analysis laboratory. A total of 18 reflective markers were placed on the body. The main outcome measures were the FRT score, the centre of pressure (CoP) excursion, and kinetic and kinematic test data. The two age groups were compared using a non-parametric, two-sample Mann-Whitney U test. A cluster analysis of the entire population grouped subjects together according to their functional similarities. Results The older subjects displayed a smaller CoP anteroposterior displacement ( P < 0.01), greater backwards displacement of the pelvis ( P < 0.05) and less trunk rotation during the FRT ( P = 0.024) than the younger subjects. The cluster analysis split the population into two groups, which differed in terms of age, FRT score, pelvis translation, and CoP displacement. Conclusion Our results suggest that at the moment of trunk flexion, elderly subjects use pelvic translation in order to limit forward displacement of the CoP and prevent forward imbalance.
Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic ...complications in patients with heterozygous LMNA mutations at the 482nd codon, the ‘hotspot’ for partial lipodystrophy, with carriers of other, non-R482 LMNA mutations.
This study included 29 patients with R482 LMNA mutations, 29 carriers of non-R482 LMNA mutation and 19 control subjects. Cardiac and metabolic phenotypes were compared between groups. A family history of either cardiac implantable electronic devices (CIEDs; P < 0.001) or sudden death (P < 0.01) was more frequent in non-R482 than R482 carriers. The non-R482 carriers also had more abnormalities on electrocardiography and received CIEDs more often than R482 carriers (P < 0.001). On cardiac ultrasound, non-R482 patients had greater frequencies of left atrial enlargement (P < 0.05) and lower left ventricular ejection fractions (P < 0.01) than R482 carriers. In contrast, R482 carriers had lower BMI (P < 0.05), leptin (P < 0.01) and fat mass (P < 0.001), but higher intra-/total abdominal fat-mass ratios (P < 0.001) and prevalences of diabetes (P < 0.01) and hypertriglyceridaemia (P < 0.05) than non-R482 carriers, with a trend towards more coronary artery disease. However, non-R482 carriers had higher intra-/total abdominal fat-mass ratios (P < 0.02) and prevalences of diabetes (P < 0.001) and hypertriglyceridaemia (P < 0.05) than the controls.
Non-R482 carriers present more frequently with arrhythmias than R482 carriers, who twice as often have diabetes, suggesting that follow-up for laminopathies could be adjusted for genotype. Non-R482 mutations require ultra-specialized cardiac follow-up, and coronary artery disease should not be overlooked. Although overlapping phenotypes are found, LMNA mutations essentially lead to tissue-specific diseases, favouring genotype-specific pathophysiological mechanisms.
Abstract Objective Normative data on gait is essential for clinical practice – especially in children whose gait pattern changes over time. Sets of normative gait data in healthy children vary ...significantly from one country to another. We decided to generate a specific reference database of gait parameters for French children. Method Three hundred and eighty-two children (228 boys and 154 girls, aged between 6 and 12) were asked to walk as naturally as possible and at a self-selected speed on a GAITRite® track. Velocity, step count, cadence, step time, step length, cycle time, stride length, base width, swing time, stance time, single support time and double support time were recorded. Parameters were analyzed by age group, height group and BMI. Results Velocity, step and stride length increased regularly with advancing age and height. Cadence decreased with height. All temporal parameters (except for double support) differed significantly ( P < 0.05) when comparing the 6-year-old group or the 7-year-old group with the 9-year-old group and older groups. A small number of temporal parameters (cadence, step time, cycle time and stance time) differed significantly when comparing 7-year-olds and 8-year-olds. Temporal parameters appeared rise in proportion height from 110 cm to 130 cm and then reached a plateau. Overweight was associated with a longer stance time and more double support. Conclusion The gait pattern in French children aged between 6 and 12 differs from those recorded elsewhere in the world; although gait parameters appear to change in much the same way with age worldwide, our values (even when normalized) are different. Our local database should be of value in French studies of childhood gait disorders. Given that gait patterns do not appear to mature by the age of 12, it would be valuable to study gait patterns in a population of teenagers.
Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. ...Genotype-phenotype correlations and long-term follow-up description in BM remain scarce.
We retrospectively evaluated the long-term clinical evolution, and genotype-phenotype correlations in 35 genetically identified BM patients (23 index cases).
Nineteen patients showed a typical clinical picture with contractures, proximal weakness and slow disease progression while 11 presented a more severe evolution. Five patients showed an atypical presentation, namely a limb girdle muscle weakness in 2 and a congenital myopathy pattern with either no contractures, or only limited to ankles, in 3 of them. Pathogenic COL6A1-3 mutations were mostly missense or in frame exon-skipping resulting in substitutions or deletions. Twenty one different mutations were identified including 12 novel ones. The mode of inheritance was, autosomal dominant in 83% of the index patients (including 17% (N=4) with a de novo mutation), recessive in 13%, and undetermined in one patient. Skipping of exon 14 of COL6A1 was found in 35% of index cases and was mostly associated with a severe clinical evolution. Missense mutations were detected in 39% of index cases and associated with milder forms of the disease.
Long-term follow-up identified important phenotypic variability in this cohort of 35 BM patients. However, worsening of the functional disability appeared typically after the age of 40 in 47% of our patients, and was frequently associated with COL6A1 exon 14 skipping.
Rehabilitation is currently the preferred first-line treatment for thoracic outlet syndrome (TOS). When physiotherapy fails, the next treatment option is usually surgery - a complex procedure with ...potential complications.
We sought to establish whether an intensive, multidisciplinary, day-hospital-based rehabilitation programme could reduce the symptoms of TOS after the failure of private-practice physiotherapy and before surgery was considered.
We performed a retrospective, single-centre study of 63 TOS patients admitted to our day hospital for 3 weeks (15 therapy sessions) between 2003 and 2014. The data were extracted from hospital records or gathered in a phone interview.
Immediately after discharge, the observed improvements in hand function were related to lifting a load, reaching a high shelf, sweeping the floor, cleaning windows, and combing hair. Three months after the end of the intensive rehabilitation program, 80% of the patients reported a reduction in their symptoms. Forty-one of the 63 patients were subsequently contacted by phone. The mean time interval between the end of the rehabilitation programme and the phone interview was 4.5 years (median: 3.5 years; range: 1-12 years). Twenty-seven patients (66%) reported a worsening in hand function, and 25% had undergone surgery. Twenty-three patients had kept the same job, 7 had changed jobs after retraining, 4 had stopped working before the programme but were able to return to work afterwards (including one patient in a part-time job), 4 had not returned to work, and 3 received disability benefits.
An intensive, multidisciplinary, hospital-based rehabilitation programme was associated with improvements in the great majority of patients with TOS - even after private-practice physiotherapy had failed.
The subsequent full-text publication of abstracts presented at a scientific congress reflects the latter's scientific quality. The aim of this paper was to evaluate the publication rate for abstracts ...presented at the 2008 European Congress of Physical and Rehabilitation Medicine (ECPRM), characterize the publications and identify factors that were predictive of publication. It is a bibliography search. We used the PubMed database to search for subsequent publication of abstracts. We screened the abstracts' characteristics for features that were predictive of publication among abstracts features, such the status of the authors, the topic and the type of work. We performed univariate analyses and a logistic regression analysis. Of 779 abstracts presented at ECPRM 2008, 169 (21.2%) were subsequently published. The mean time to publication was 12±15.7 months and the mean impact factor of the publishing journals was 2.05±2.1. In a univariate analysis, university status (P<10-6), geographic origin (P=10-3), oral presentation (P<10-6), and original research (P<10-6) (and particularly multicentre trials P<0.01 and randomized controlled trials P=10-3) were predictive of publication. In a logistic regression analysis, oral presentation (odds ratio OR=0.37) and university status (OR=0.36) were significant, independent predictors of publication. ECPRM 2008 publication rate and impact factor were relatively low, when compared with most other national and international conferences in this field. University status, the type of abstract and oral presentation were predictive of subsequent publication.
Abstract Several authors have reported alterations in vasodilation during effort in patients with dystrophinopathies, in which a lack of neuronal NO synthase is thought to lead to functional muscle ...ischemia. In order to determine changes in muscle oxygenation during effort in patients with Becker muscular dystrophy (BMD) and assess the parameters’ links with disease severity and functional status, 10 BMD patients and 10 age-matched controls performed isokinetic, constant-load knee extension exercises at (i) 20% of their extensors’ peak torque (i.e. the same relative load) and (ii) the same absolute load (20 Nm). Muscle oxygenation was evaluated noninvasively using near-infrared spectroscopy (NIRS), with the time course of deoxygenation as the main criterion. As expected, BMD patients displayed a lower peak torque than controls (−62%). During both types of exercise, initial muscle deoxygenation was faster (by 27–41%) in BMD patients than in controls. Greater disease severity (according to the Motor Function Measure) and functional impairment (walking endurance) were associated with a faster second deoxygenation phase ( τ ). The validity and relevance of muscle deoxygenation parameters and the alteration of vasodilatation by nNOS deficiency in dystrophinopathies should be assessed by further studies.
La chute est un problème majeur de santé publique. Les recherches visant à prévenir les risques liés aux chutes chez les personnes âgées sont cruciales pour assurer le maintien de leur autonomie, de ...leur participation à la société et de leur qualité de vie. Créé en 2017 en réponse à l’appel à projets du Groupement Interrégional de Recherche Clinique - GIRCI Nord-Ouest, le réseau d’investigation clinique PREMOB a pour vocation d’accroître l’activité de recherche clinique sur la thématique : « Prévenir la perte de mobilité et les chutes chez les personnes âgées ». Le réseau est composé des services gériatriques et non-gériatriques des quatre CHUs (Lille, Amiens, Caen et Rouen), des CHs (Valenciennes, Saint-Quentin, Beauvais), du GHICL, ainsi que des unités/laboratoires de recherche de l’interrégion (unité COMETE - Inserm, université de Caen ; LAMIH - Université Polytechnique des Hauts-de-France ; EVALAB - Living-lab, INSERM CIC-IT 1403 ; ScaLab UMR-CNRS, Lille).
Dédiées à la recherche, les principales missions du réseau PREMOB sont :
– développer l’activité de recherche clinique sur la thématique de la prévention de la perte de mobilité et des chutes à travers des projets de recherche collaboratifs ;
– développer les travaux interdisciplinaires à travers des échanges renforcés, structurés et réguliers entre les différents acteurs du réseau en particulier entre cliniciens et chercheurs ;
– accroître la capacité de ces acteurs à mettre en place et mener des essais cliniques, (accompagnement, mise à disposition d’outils, aide au recrutement des témoins et des volontaires sains…) ;
– accroître la capacité de ces acteurs à coordonner des projets (expertise scientifique, conseil méthodologique, aide au montage des projets, réponses aux appels d’offres, partenariats) ;
– favoriser la mise en place d’études au plus près des patients en développant un maillage territorial ;
– développer et promouvoir des formations théoriques et pratiques des professionnels de santé sur la thématique du réseau et sur la recherche clinique ;
– diffuser des connaissances et promouvoir l’amélioration des pratiques professionnelles en facilitant l’accès aux informations partagées.
Le fonctionnement du réseau est assuré par ses instances : le Comité de Pilotage, ayant pour principale mission de définir la politique générale du réseau ainsi que de garantir et d’appliquer ses orientations scientifiques. Le Conseil scientifique assure l’expertise scientifique des projets portés par le réseau. La coordination opérationnelle est assurée par le coordonnateur médical et scientifique et l’ARC coordonnateur. Son rôle est de centraliser et de diffuser l’information, d’accompagner/orienter les membres dans la réponse aux différents appels à projets, dans la mise en place, la conduite et la coordination des projets de recherche collaboratifs.
Le réseau a atteint avec succès ses objectifs fixés pour la première année : structuration institutionnelle et opérationnelle avec la définition et l’officialisation de ces instances ; élaboration des protocoles de recherche impliquant plusieurs partenaires : plusieurs projets collaboratifs sont actuellement en cours de conception ; réponse aux appels à projets : 5 lettres d’intention ont été déposées aux différents appels à projets (PHRC-N, PHRC-I, PREPS, émergence) ; maillage territorial : initialement porté par 10 membres fondateurs, le réseau s’est élargi au cours de cette première année avec l’adhésion de 8 nouveaux membres. De nombreuses collaborations avec des structures académiques et privées ont été créées. Le réseau poursuit son développement et doit assurer son avenir par l’accomplissement de ses missions et la recherche de nouvelles sources de financement.
Le réseau PREMOB facilite la mutualisation des compétences des acteurs de l’interrégion Nord-Ouest en apportant plus d’efficacité et de transversalité aux projets collaboratifs sur la prévention de la perte de mobilité et les chutes chez les personnes âgées.
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