Mots-clés
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médecine physique et de réadaptationSynonyme(s)functional rehabilitation ;rehabilitation ;médecine de rééducation ;rehabilitation medicine ;réadaptation et rééducation ;rééducation fonctionnelle ;physical medicine PRM |


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Neuromuscular diseases rehabilitation in the era of gene therapy
Trabacca A
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Revue : Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Titre : Neuromuscular diseases rehabilitation in the era of gene therapy Type de document : Article Auteurs : Trabacca A Editeur : Italy Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : lettre ; maladie neuromusculaire ; médecine personnalisée ; médecine physique et de réadaptation ; thérapie génique Pubmed / DOI : Pubmed : 32034556 / DOI : 10.1007/s10072-020-04280-1
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32034556 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study
Trabacca A, Lucarelli E, Pacifico R, et al.
European journal of physical and rehabilitation medicine, 2020
Revue : European journal of physical and rehabilitation medicine Titre : The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study Type de document : Article Auteurs : Trabacca A ; Lucarelli E ; Pacifico R ; Vespino T ; Di Liddo A ; Losito L Editeur : Italy Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale proximale (type II) ; amyotrophie spinale proximale liée à SMN1 ; classification des maladies ; enfant ; étude de cas ; maladie du motoneurone ; maladie neuromusculaire ; médecine physique et de réadaptation ; suivi medical ; thérapie génique Pubmed / DOI : Pubmed : 31939268 / DOI : 10.23736/S1973-9087.20.05968-7
N° Profil MNM : 2020012 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31939268 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Fuzzy Logic-Based Risk Assessment of a Parallel Robot for Elbow and Wrist Rehabilitation
Tucan P, Gherman B, Major K, et al.
International journal of environmental research and public health, 2020, 17, 2
Revue : International journal of environmental research and public health, 17, 2 Titre : Fuzzy Logic-Based Risk Assessment of a Parallel Robot for Elbow and Wrist Rehabilitation Type de document : Article Auteurs : Tucan P ; Gherman B ; Major K ; Vaida C ; Major Z ; Plitea N ; Carbone G ; Pisla D Editeur : Switzerland Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : essai clinique ; médecine physique et de réadaptation ; membre supérieur ; robotique Pubmed / DOI : Pubmed : 31963917 / DOI : 10.3390/ijerph17020654
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31963917 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Comparing children's driving abilities in physical and virtual environments
Gefen N, Rigbi A, Archambault PS, et al.
Disability and rehabilitation. Assistive technology, 2019
Revue : Disability and rehabilitation. Assistive technology Titre : Comparing children's driving abilities in physical and virtual environments Type de document : Article Auteurs : Gefen N ; Rigbi A ; Archambault PS ; Weiss PL Editeur : England Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : aide à la mobilité ; aide à la rééducation ; aide technique ; enfant ; étude prospective ; médecine physique et de réadaptation Pubmed / DOI : Pubmed : 31805790 / DOI : 10.1080/17483107.2019.1693644
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31805790 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Glycogen storage disease Type VI : Synonyms: GSD VI
Labrador E, Weinstein DA
GeneReviews® [Internet], 2019
Revue : GeneReviews® [Internet] Titre : Glycogen storage disease Type VI : Synonyms: GSD VI Type de document : Article Auteurs : Labrador E ; Weinstein DA Année de publication : 27/11/2019 Langues : Anglais (eng) Mots-clés : article de synthèse ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; diagnostic moléculaire ; diagnostic préimplantatoire ; diagnostic prénatal ; examen clinique ; examen complémentaire ; grossesse ; médecine physique et de réadaptation ; pharmacothérapie ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: April 23, 2009; Last Update: November 27, 2019.
Clinical characteristics.
Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation, and deficiency of the enzyme in the untreated child is characterized by hepatomegaly, poor growth, ketotic hypoglycemia, elevated hepatic transaminases, hyperlipidemia, and low prealbumin level. GSD VI is usually a relatively mild disorder that presents in infancy and childhood; rare cases of more severe disease manifesting with recurrent hypoglycemia and marked hepatomegaly have been described. More common complications in the setting of suboptimal metabolic control include short stature, delayed puberty, osteopenia, and osteoporosis. Hepatic fibrosis commonly develops in GSD VI, but cirrhosis and hypertrophic cardiomyopathy are rare. Clinical and biochemical abnormalities may decrease with age, but ketosis and hypoglycemia can continue to occur.
Diagnosis/testing.
The diagnosis of GSD VI is established in a proband with typical clinical findings and/or biallelic pathogenic variants in PYGL identified by molecular genetic testing.
Management.
Treatment of manifestations: Some individuals with GSD VI may not require any treatment, but treatment with cornstarch and protein improves growth, stamina, and ameliorates biochemical abnormalities including hypoglycemia and ketosis. Even in those with no hypoglycemia, a bedtime dose of cornstarch improves energy and prevents ketosis.
Surveillance: Monitoring of blood glucose and blood ketone levels at least several times per month during times of stress including illness, intense activity, periods of rapid growth, or any time at which intake of food is reduced. Annual liver ultrasound examinations should start at age five years. Bone density exam is recommended when puberty is complete.
Agents/circumstances to avoid: Excessive amounts of simple sugars; glucagon administration as a rescue therapy for hypoglycemia; growth hormone therapy for short stature; contact sports when hepatomegaly is present.
Evaluation of relatives at risk: If the family-specific pathogenic variants are known, it is appropriate to offer molecular genetic testing to at-risk sibs so that early treatment and avoidance of factors that exacerbate disease can be initiated.
Genetic counseling.
GSD VI is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family are known.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301760 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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La kinésithérapie libérale face à la dystrophie musculaire de Duchenne en Martinique : Practice of liberal physiotherapist profession in the management of patients with Duchenne muscular dystrophy in Martinique
Tournier S, Cantacuzene M, Barnay JL, et al.
Les Cahiers de Myologie, 2019, 35, HS2, p 29
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Zoom sur... L'amyotrophie spinale proximale liée au gène SMN1
Myoinfo (AFM-Téléthon), Duguet C, Dupitier E, et al.
Zoom sur ..., Savoir & Comprendre, 2019, 130
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Dystrophie musculaire de Duchenne : vers de meilleures compréhension et évaluation des déficiences du membre supérieur
Urtizberea JA
2019
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Treadmill training in people affected by Charcot-Marie-Tooth (CMT) neuropathy: results of a multicenter, prospective, randomized, single blind, controlled study
Mori L, Signori A, Prada V, et al.
European journal of neurology, 2019
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Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III
Gobbo M, Lazzarini S, Vacchi L, et al.
Case reports in neurological medicine, 2019
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Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency : Synonyms: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, VLCAD Deficiency
Leslie ND, Valencia CA, Strauss AW, et al.
GeneReviews® [Internet], 2019
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Carnitine Palmitoyltransferase II Deficiency : Synonym: CPT II Deficiency
Wieser T
GeneReviews® [Internet], 2019
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Comparison of seating, powered characteristics and functions and costs of electrically powered wheelchairs in a general population of users
Dolan MJ, Bolton MJ, Henderson GI
Disability and rehabilitation. Assistive technology, 2019, 14, 1, p 56
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X-Linked Centronuclear Myopathy : Synonyms: Myotubular Myopathy (MTM), XLCNM, X-Linked Centronuclear Myopathy, XLMTM
Dowling JJ, Lawlor MW, Das S
GeneReviews® [Internet], 2018
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Hypokalemic Periodic Paralysis : Synonyms: HOKPP, HypoPP
Weber F, Lehmann-Horn F
GeneReviews® [Internet], 2018
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TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form : Synonyms: Mitochondrial DNA Depletion Syndrome 2 (MTDPS2), Myopathic Type; TK2 Deficiency
Wang J, El-Hattab AW
GeneReviews® [Internet], 2018
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Compensation du membre supérieur : une urgence ! : L'actu
Robert-Giraudel A
VLM. Vaincre les myopathies, 2018, 184, p. 8-10
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Prise en charge orthopédique et maladies neuromusculaires
Schanen-Bergot MO, Milhe de Bovis V, Richard T, et al.
Repères, Savoir & Comprendre, 2018, 16 p
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Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies
Conway KM, Ciafaloni E, Matthews D, et al.
Disability and rehabilitation, 2018, 40, 15, p 1773
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Exercise is an Adjuvant to Contemporary Dystrophy Treatments
Kostek MC, Gordon B
Exercise and sport sciences reviews, 2018, 46, 1, p 34
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