المؤلفون: Antje Bornemann, Lukas J. Schnitzler, Christian Hartmann, Peter De Jonghe, Jens Reimann, Peter Van den Bergh, Andreas Meisel, Jörg B. Schulz, Jens A. Petersen, Aleksandra Nadaj-Pakleza, Joachim Weis, Philip Van Damme, Kristl G. Claeys, Andreas Ferbert, Elisabeth J. Rushing, Tobias Schreckenbach, Thomas Tousseyn, Jean-Jacques Martin, Werner Stenzel, Dietmar Rudolf Thal, Susanne Petri

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, University of Zurich, Claeys, Kristl G

المصدر: Orphanet Journal of Rare Diseases, Vol. 12, no.1, p. 86 (2017)
Orphanet Journal of Rare Diseases, Vol. 12, no. 1, p. 86 [1-12] (2017)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Orphanet journal of rare diseases

مصطلحات موضوعية: HIV-NM, 2716 Genetics (clinical), Weakness, Paraproteinemia, Pathology, medicine.medical_specialty, HIV-associated nemaline myopathy, lcsh:Medicine, 610 Medicine & health, Late onset, Review, Muscle disorder, Myopathies, Nemaline, SLONM, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Atrophy, medicine, 2736 Pharmacology (medical), Animals, Humans, Pharmacology (medical), ddc:610, Age of Onset, Myopathy, Genetics (clinical), Immunosuppression Therapy, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscles, lcsh:R, Monoclonal gammopathy, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, 10040 Clinic for Neurology, 030220 oncology & carcinogenesis, NGS, Immunology, MGUS, Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Stem Cell Transplantation

الوصف: Orphanet journal of rare diseases : OJRD 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Published by BioMed Central, London

وصف الملف: Electronic; application/pdf; s13023-017-0640-2.pdf - application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6bTest
https://hdl.handle.net/2078.1/185606Test

المؤلفون: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: muscular dystrophy, Adult, Male, medicine.medical_specialty, Anoctamins, Gene mutation, Biology, ANO5, medicine.disease_cause, Exon, Sex Factors, Chloride Channels, Internal medicine, Prevalence, Genetics, medicine, Muscular dystrophy, Humans, Allele, Myopathy, Genetics (clinical), Retrospective Studies, Aged, LGMD2L, Mutation, Clinical pathology, Gender, Genetic Variation, Middle Aged, medicine.disease, Europe, Phenotype, Muscular Dystrophies, Limb-Girdle, Female, medicine.symptom, Limb-girdle muscular dystrophy

الوصف: Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases. © 2013 WILEY PERIODICALS, INC.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687Test
https://doi.org/10.1002/humu.22342Test

المؤلفون: Peter Van den Bergh, Jean-Louis Thonnard, Massimo Penta, Philip Van Damme, Anna J. Roy, Charles Sèbiyo Batcho

المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, UCL - SSS/IONS/COSY - Systems & cognitive Neuroscience, UCL - (SLuc) Centre de référence neuromusculaire, Louvain Bionics - Center of Interdisciplinary Expertise, UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Neuromuscular Disorders, Vol. 26, no. 3, p. 211-220 (2016)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Activities of daily living, Psychometrics, Adolescent, Severity of Illness Index, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, Physical medicine and rehabilitation, Severity of illness, Activities of Daily Living, Medicine, Humans, In patient, 030212 general & internal medicine, Medical diagnosis, Child, Genetics (clinical), Reliability (statistics), Aged, Rasch model, business.industry, Research Support, Non-U.S. Gov't, Rasch analysis, Neuromuscular Diseases, Patient-reported outcome measure, Middle Aged, Activity limitations, Neuromuscular diseases, Neurology, Pediatrics, Perinatology and Child Health, Cohort, young adult, Female, Neurology (clinical), reproducibility of results, business, aged, 80 and over, 030217 neurology & neurosurgery, Follow-Up Studies

الوصف: This study aims to investigate the clinimetric properties of ACTIVLIM, a measure of activity limitations, when it is used in daily practice in a large nationwide representative cohort of patients with neuromuscular diseases. A cohort of 2986 patients was assessed at least once over 2 years in 6 national neuromuscular diseases reference centers. Successive Rasch analyses were conducted in order to investigate the scale validity, reliability, consistency across demographic and clinical sub-groups and its sensitivity to change. ACTIVLIM confirmed excellent fit to a unidimensional scale, with stable but 3-times more accurate item calibrations compared to the original publication. It showed a good reliability (R = 0.95), an appropriate targeting for 87% of the sample and an excellent invariance across age, gender, language and time. Despite some variations in the item difficulty hierarchy across diagnoses, ACTIVLIM exhibited a good capability to quantify small but significant changes in activity for various diagnostic groups. Overall, ACTIVLIM demonstrated very good clinimetric properties, allowing accurate quantitative measurement of activity limitations in both children and adults with a variety of neuromuscular diseases.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e355bdb5d8f0a89621262734b0ade861Test
https://biblio.vub.ac.be/vubir/how-robust-is-activlim-for-the-followup-of-activity-limitations-in-patients-with-neuromuscular-diseasesTest(5dd31c61-a31e-4274-b77c-2df1f016ed60).html

المؤلفون: Peter Van den Bergh, Anders Gustavsson, Mattias Ekman, Brigitte Schlehofer, Christer Allgulander, Jim van Os, Laura Fratiglioni, Poul Jennum, Roland Simon, Lars Jacob Stovner, Tobias Kurth, Mattias Linde, Albena Jordanova, Jean-Michel Vallat, Roselind Lieb, Frank Jacobi, Fiona Norwood, Brenda Gannon, Andreas Maercker, David P.H. Jones, Hans-Christoph Steinhausen, Carlo Faravelli, Jordi Alonso, Martin Preisig, Juergen Rehm, Mikael Svensson, Jes Olesen, Luis Salvador-Carulla, Bengt Jönsson, Hans-Ulrich Wittchen, Linus Jönsson, Pieter E. Vos, R. Dodel, Martin Knapp, Amir Musayev, Beatrice Melin, Maura Pugliatti, Massimo Moscarelli, Gisela Kobelt, Weili Xu, Christina Ljungcrantz, Korinna Karampampa, Ettore Beghi

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, University of Zurich, Olesen, J

المصدر: European Neuropsychopharmacology, 21, 718-79
EUROPEAN NEUROPSYCHOPHARMACOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European neuropsychopharmacology
European Neuropsychopharmacology, 21(10), 718-779. Elsevier
European Neuropsychopharmacology, 21, 10, pp. 718-79
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European Neuropsychopharmacology, Bd. 21 (2011), Nr. 10, S. 718–779, ISSN: 0924-977X
Gustavsson, A, Svensson, M, Jacobi, F, Allgulander, C, Alonso, J, Beghi, E, Dodel, R, Ekman, M, Faravelli, C, Fratiglioni, L, Gannon, B, Jones, D H, Jennum, P, Jordanova, A, Jönsson, L, Karampampa, K, Knapp, M, Kobelt, G, Kurth, T, Lieb, R, Linde, M, Ljungcrantz, C, Maercker, A, Melin, B, Moscarelli, M, Musayev, A, Norwood, F, Preisig, M, Pugliatti, M, Rehm, J, Salvador-Carulla, L, Schlehofer, B, Simon, R, Steinhausen, H-C, Stovner, L J, Vallat, J-M, den Bergh, P V, van Os, J, Vos, P, Xu, W, Wittchen, H-U, Jönsson, B, Olesen, J & on behalf of the CDBE2010 study group 2011, ' Cost of disorders of the brain in Europe 2010 ', European Neuropsychopharmacology, vol. 21, no. 10, pp. 718-779 . https://doi.org/10.1016/j.euroneuro.2011.08.008Test

مصطلحات موضوعية: Male, Total cost, Neurological disorder, Neuroinformatics [DCN 3], 2738 Psychiatry and Mental Health, Indirect costs, Cost of Illness, ddc:150, Prevalence, 2736 Pharmacology (medical), Medicine, Pharmacology (medical), Child, Aged, 80 and over, Brain Diseases, education.field_of_study, 10093 Institute of Psychology, Mental Disorders, Pharmacology. Therapy, Health Care Costs, Middle Aged, 10058 Department of Child and Adolescent Psychiatry, Europe, Psychiatry and Mental health, Eating disorders, 3004 Pharmacology, 2728 Neurology (clinical), Neurology, Child, Preschool, Female, Public Health, 2803 Biological Psychiatry, Adult, medicine.medical_specialty, Adolescent, Population, 610 Medicine & health, Prevalence of mental disorders, Humans, Prevalence, Mental disorders, Neurological disorders, Disorders of the brain, Europe, education, Psychiatry, Biological Psychiatry, Aged, Pharmacology, business.industry, Infant, Newborn, Infant, Prävalenz, Psychische Störungen, Neurologische Störungen, Gehirnerkrankungen, Europa, medicine.disease, Personality disorders, Mood disorders, 2808 Neurology, Neurology (clinical), Health Expenditures, 150 Psychology, business

الوصف: Item does not contain fulltext BACKGROUND: The spectrum of disorders of the brain is large, covering hundreds of disorders that are listed in either the mental or neurological disorder chapters of the established international diagnostic classification systems. These disorders have a high prevalence as well as short- and long-term impairments and disabilities. Therefore they are an emotional, financial and social burden to the patients, their families and their social network. In a 2005 landmark study, we estimated for the first time the annual cost of 12 major groups of disorders of the brain in Europe and gave a conservative estimate of euro386 billion for the year 2004. This estimate was limited in scope and conservative due to the lack of sufficiently comprehensive epidemiological and/or economic data on several important diagnostic groups. We are now in a position to substantially improve and revise the 2004 estimates. In the present report we cover 19 major groups of disorders, 7 more than previously, of an increased range of age groups and more cost items. We therefore present much improved cost estimates. Our revised estimates also now include the new EU member states, and hence a population of 514 million people. AIMS: To estimate the number of persons with defined disorders of the brain in Europe in 2010, the total cost per person related to each disease in terms of direct and indirect costs, and an estimate of the total cost per disorder and country. METHODS: The best available estimates of the prevalence and cost per person for 19 groups of disorders of the brain (covering well over 100 specific disorders) were identified via a systematic review of the published literature. Together with the twelve disorders included in 2004, the following range of mental and neurologic groups of disorders is covered: addictive disorders, affective disorders, anxiety disorders, brain tumor, childhood and adolescent disorders (developmental disorders), dementia, eating disorders, epilepsy, mental retardation, migraine, multiple sclerosis, neuromuscular disorders, Parkinson's disease, personality disorders, psychotic disorders, sleep disorders, somatoform disorders, stroke, and traumatic brain injury. Epidemiologic panels were charged to complete the literature review for each disorder in order to estimate the 12-month prevalence, and health economic panels were charged to estimate best cost-estimates. A cost model was developed to combine the epidemiologic and economic data and estimate the total cost of each disorder in each of 30 European countries (EU27+Iceland, Norway and Switzerland). The cost model was populated with national statistics from Eurostat to adjust all costs to 2010 values, converting all local currencies to Euro, imputing costs for countries where no data were available, and aggregating country estimates to purchasing power parity adjusted estimates for the total cost of disorders of the brain in Europe 2010. RESULTS: The total cost of disorders of the brain was estimated at euro798 billion in 2010. Direct costs constitute the majority of costs (37% direct healthcare costs and 23% direct non-medical costs) whereas the remaining 40% were indirect costs associated with patients' production losses. On average, the estimated cost per person with a disorder of the brain in Europe ranged between euro285 for headache and euro30,000 for neuromuscular disorders. The European per capita cost of disorders of the brain was euro1550 on average but varied by country. The cost (in billion euroPPP 2010) of the disorders of the brain included in this study was as follows: addiction: euro65.7; anxiety disorders: euro74.4; brain tumor: euro5.2; child/adolescent disorders: euro21.3; dementia: euro105.2; eating disorders: euro0.8; epilepsy: euro13.8; headache: euro43.5; mental retardation: euro43.3; mood disorders: euro113.4; multiple sclerosis: euro14.6; neuromuscular disorders: euro7.7; Parkinson's disease: euro13.9; personality disorders: euro27.3; psychotic disorders: euro93.9; sleep disorders: euro35.4; somatoform disorder: euro21.2; stroke: euro64.1; traumatic brain injury: euro33.0. It should be noted that the revised estimate of those disorders included in the previous 2004 report constituted euro477 billion, by and large confirming our previous study results after considering the inflation and population increase since 2004. Further, our results were consistent with administrative data on the health care expenditure in Europe, and comparable to previous studies on the cost of specific disorders in Europe. Our estimates were lower than comparable estimates from the US. DISCUSSION: This study was based on the best currently available data in Europe and our model enabled extrapolation to countries where no data could be found. Still, the scarcity of data is an important source of uncertainty in our estimates and may imply over- or underestimations in some disorders and countries. Even though this review included many disorders, diagnoses, age groups and cost items that were omitted in 2004, there are still remaining disorders that could not be included due to limitations in the available data. We therefore consider our estimate of the total cost of the disorders of the brain in Europe to be conservative. In terms of the health economic burden outlined in this report, disorders of the brain likely constitute the number one economic challenge for European health care, now and in the future. Data presented in this report should be considered by all stakeholder groups, including policy makers, industry and patient advocacy groups, to reconsider the current science, research and public health agenda and define a coordinated plan of action of various levels to address the associated challenges. RECOMMENDATIONS: Political action is required in light of the present high cost of disorders of the brain. Funding of brain research must be increased; care for patients with brain disorders as well as teaching at medical schools and other health related educations must be quantitatively and qualitatively improved, including psychological treatments. The current move of the pharmaceutical industry away from brain related indications must be halted and reversed. Continued research into the cost of the many disorders not included in the present study is warranted. It is essential that not only the EU but also the national governments forcefully support these initiatives. 01 oktober 2011

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183d40ed1422d3dcf9960531d3aaf331Test
https://doi.org/10.1016/j.euroneuro.2011.08.008Test

المؤلفون: E. Morra, E. Evers, A. Hahn, Claudia Sommer, Richard A. C. Hughes, Carol L. Koski, Peter Van den Bergh, Jean Marc Léger, Eduardo Nobile-Orazio, John D. Pollard, Robert D M Hadden, Pierre Bouche, Pieter A. van Doorn, David R. Cornblath, Isabel Illa, Ivo N. van Schaik

المساهمون: AII - Amsterdam institute for Infection and Immunity, ANS - Amsterdam Neuroscience, Neurology

المصدر: Journal of the peripheral nervous system, 15(4), 295-301. Wiley-Blackwell
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: medicine.medical_specialty, diagnosis, multifocal motor neuropathy, Advisory Committees, MEDLINE, Mismatch negativity, Polyneuropathies, Physical medicine and rehabilitation, Peripheral nerve, definition, Humans, Medicine, guidelines, Peripheral Nerves, Societies, Medical, First revision, treatment, Task force, business.industry, General Neuroscience, Disease Management, Guideline, medicine.disease, Europe, Systematic review, Practice Guidelines as Topic, Physical therapy, Neurology (clinical), Nervous System Diseases, business, Multifocal motor neuropathy

الوصف: A European Federation of Neurological Societies/Peripheral Nerve Society consensus guideline on the definition, investigation, and treatment of multifocal motor neuropathy (MMN) was published in 2006. The aim is to revise this guideline. Disease experts considered references retrieved from MEDLINE and Cochrane Systematic Reviews published between August 2004 and July 2009 and prepared statements that were agreed to in an iterative fashion. The Task Force agreed on Good Practice Points to define clinical and electrophysiological diagnostic criteria for MMN, investigations to be considered, and principal recommendations for treatment.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d09fd115e568aec033fbe9966f82bf4Test
https://doi.org/10.1111/j.1529-8027.2010.00290.xTest

المؤلفون: Thibaut Leemrijse, Antoine de Gheldere, Paolo Simoni, Frédéric Lecouvet, Jacques Malghem, Bruno Vande Berg, Peter Van den Bergh, Christine Galant, Patrick Omoumi

المصدر: Skeletal Radiology. 39:381-386

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Tarsal Joints, Subtalar joint, parasitic diseases, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Cyst, Tarsal tunnel, Arthrography, Ganglion Cysts, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Tarsal Joint, Anatomy, Tarsal tunnel syndrome, Middle Aged, medicine.disease, Radiographic Image Enhancement, body regions, Ganglion cyst, medicine.anatomical_structure, sense organs, Radiology, Tomography, Tomography, X-Ray Computed, business, Tarsal Tunnel Syndrome

الوصف: Ganglion cysts are a common cause of tarsal tunnel syndrome. As in other locations, these cysts are believed to communicate with neighboring joints. The positive diagnosis and preoperative work-up of these cysts require identification and location of the cyst pedicles so that they may be excised and the risk of recurrence decreased. This can be challenging with ultrasonography and magnetic resonance (MR) imaging. We present three cases of symptomatic ganglion cysts of the tarsal tunnel, diagnosed by MR imaging, where computed tomography (CT) arthrography with delayed acquisitions helped to confirm the diagnosis and identify precisely the topography of the communication with the subtalar joint. These cases provide new evidence of the articular origin of ganglion cysts developing in the tarsal tunnel.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90261229c295e4a62661072f005d3b79Test
https://doi.org/10.1007/s00256-009-0864-xTest

المؤلفون: Luc Kevers, Philippe Hantson, Peter Van den Bergh, Nicole Fabien

المصدر: Muscle & Nerve. 41:423-426

مصطلحات موضوعية: medicine.medical_specialty, Lupus erythematosus, Guillain-Barre syndrome, Physiology, business.industry, Respiratory disease, Dysautonomia, Polyradiculoneuropathy, Chronic inflammatory demyelinating polyneuropathy, medicine.disease, Connective tissue disease, Gastroenterology, Cellular and Molecular Neuroscience, Respiratory failure, Physiology (medical), Internal medicine, Immunology, medicine, Neurology (clinical), medicine.symptom, business

الوصف: We examined a 27-year-old woman who developed rapidly progressive quadriplegia and acute respiratory failure that required mechanical ventilation in the intensive care unit. It was unclear whether this was a presentation of Guillain-Barre syndrome (GBS) or acute-onset chronic inflammatory demyelinating polyradiculoneuropathy (A-CIDP). Remarkable features included multiple cranial nerve involvement, respiratory failure, dysautonomia, and skin manifestations. Several autoantibodies were elevated, including antinuclear (ANA), anticardiolipin (aCL), thyroid, and calcium-sensing receptor (CaSR) autoantibodies. The patient was initially diagnosed with GBS and treated with intravenous immunoglobulin (IVIg). After almost complete recovery, relapse with quadriplegia and respiratory failure was observed 12 weeks after motor symptom onset. She then received IVIg and steroid pulse therapy followed by maintenance oral methylprednisolone and plasma exchange. She recovered completely 4 months after the relapse. The further clinical and serological course was consistent with systemic lupus erythematosus (SLE)-associated CIDP. Herein we evaluate the association between A-CIDP and some biological markers of autoimmunity.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9adb59da41213979d2ad5b4391765925Test
https://doi.org/10.1002/mus.21543Test

المؤلفون: Laure Vandervelde, Jean-Louis Thonnard, Massimo Penta, Peter Van den Bergh

المساهمون: UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - SSS/IONS/COSY - Systems & cognitive Neuroscience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 81, no. 5, p. 506-512 (2010)

مصطلحات موضوعية: Questionnaires, Male, Adult, Aging, medicine.medical_specialty, Activities of daily living, Neuromuscular disease, Adolescent, media_common.quotation_subject, Item discrimination, Young Adult, Grip strength, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Young adult, Child, Physical Therapy Modalities, Language, Aged, media_common, Paediatric patients, Rasch model, Reproducibility of Results, Neuromuscular Diseases, Middle Aged, medicine.disease, Psychiatry and Mental health, Motor Skills, Data Interpretation, Statistical, Physical therapy, Female, Surgery, Aptitude, Neurology (clinical), Psychology

الوصف: Neuromuscular disorders (NMDs) can lead to specific manual disabilities due to hand muscle weakness and atrophy, myotonia, or loss of sensory function. The aim of this study was to adapt and validate the ABILHAND questionnaire in children and adults with NMDs using the Rasch model. This questionnaire contained specific manual activities for children and for adults, as well as common manual activities. One hundred and twenty-four adult patients and the parents of 124 paediatric patients were asked to provide their perceived difficulty in performing each manual activity on a three-level scale: impossible (0), difficult (1) or easy (2). Items were selected from well-established psychometric criteria (ordered categories, equal item discrimination, adequate fit to the Rasch model, lack of redundancy) using the Rasch Unidimensional Measurement Models (RUMM2020((c))) computer programme. The 22 selected items contain 4 children specific items, 4 adult specific items and 14 items commonly applicable to both children and adults. They define a unidimensional and linear measure of manual ability and demonstrate continuous progression in their difficulty. The item hierarchy of difficulty was invariant across six patient-related factors. The scale exhibited good precision (r=0.95) and the 22 items were well targeted to the patients' locations. The ABILHAND measures were strongly related to the ACTIVLIM measures (r=0.76), and poorly related to grip strength (r=0.36 for the right hand and r=0.40 for the left hand). Moreover, the resulting scale can be used for adults and children, allowing manual ability to be assessed from childhood to adulthood.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b48c8502e1a986f947a6859176febf41Test
https://doi.org/10.1136/jnnp.2009.177055Test

المؤلفون: Jean-Louis Thonnard, Delphine Dispa, Laure Vandervelde, Peter Van den Bergh

المساهمون: UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Service de médecine physique et de réadaptation motrice

المصدر: Archives of Physical Medicine and Rehabilitation, Vol. 89, no. 9, p. 1720-1723 (2008)

مصطلحات موضوعية: Questionnaires, Male, Adult, medicine.medical_specialty, Self Disclosure, Activities of daily living, Intraclass correlation, medicine.medical_treatment, Psychological intervention, Physical Therapy, Sports Therapy and Rehabilitation, Disability Evaluation, Surveys and Questionnaires, Activities of Daily Living, Humans, Outcome assessment (health care), Medicine, In patient, Aged, Aged, 80 and over, Analysis of Variance, Rehabilitation, business.industry, Neuromuscular Diseases, Middle Aged, University hospital, Differential item functioning, Task performance and analysis, Self-disclosure, Physical therapy, Female, business

الوصف: OBJECTIVE: To investigate the agreement between the self-reported and examiner-reported difficulties of patients with neuromuscular disorders (NMDs) in performing daily activities at home. DESIGN: A comparison between 2 methods of administering a measurement instrument. SETTING: Neuromuscular reference center in a university hospital. PARTICIPANTS: Adult patients (N=57) with diagnosed NMDs living at home. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: The ACTIVLIM questionnaire. RESULTS: The intraclass correlation coefficient, model 2,1 (ICC(2,1)), between the measures was very good (ICC(2,1)=.87), indicating a good agreement between self-perceived and observed measures. CONCLUSIONS: The use of ACTIVLIM as a self-reporting questionnaire is a valid method for assessing activity limitations in patients with NMD.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115495bd128926bf82a03a379e32cddeTest
https://doi.org/10.1016/j.apmr.2008.01.024Test

المؤلفون: Georges Mer, Kaori Hojo, Shana L. Merrill, Jessica Deleon, Peter Van den Bergh, Maria Victoria Botuyan, Noah Beadell, Inès Mademan, Christopher J. Klein, Gregory A. Worrell, Yanhong Wu, Henry Houlden, Nicole McGrath, Jan Senderek, Gordon Smith, Jonathan Baets, Xiaohui Duan, Mary M. Reilly, Julie Khoury, Murray Grossman, Joachim Weis, Matilde Laura, William W. Seeley, Steven S. Scherer, Peter De Jonghe, Yo Tsen Liu, Peter J. Dyck

المصدر: Brain

مصطلحات موضوعية: Adult, DNA (Cytosine-5-)-Methyltransferase 1, Male, Bioinformatics, medicine.disease_cause, environment and public health, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Hereditary sensory and autonomic neuropathy, medicine, Autophagy, Humans, DNA (Cytosine-5-)-Methyltransferases, Cognitive decline, Hereditary Sensory and Autonomic Neuropathies, Cognitive deficit, Cellular localization, 030304 developmental biology, Aged, Genetics, 0303 health sciences, Mutation, Cerebellar ataxia, urogenital system, Original Articles, Middle Aged, medicine.disease, 3. Good health, Pedigree, HEK293 Cells, embryonic structures, Female, Neurology (clinical), Human medicine, medicine.symptom, Nervous System Diseases, Psychology, 030217 neurology & neurosurgery, Narcolepsy

الوصف: Baets et al. expand the clinical spectrum of hereditary sensory and autonomic neuropathy type 1E (HSAN1E) by studying nine newly identified kinships, and reveal a potential pathogenic mechanism for causative DNMT1 mutations. Mutant DNMT1 proteins form aggresomes in the cytoplasm, suggesting that aggresome-induced autophagy may contribute to disease pathogenesis.We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. The clinical presentations and genetic characteristics of nine newly identified HSAN1E kinships (45 affected subjects) were investigated. Five novel mutations of DNMT1 were discovered; p.C353F, p.T481P, p.P491L, p.Y524D and p.I531N, all within the target-sequence domain, and two mutations (p.T481P, p.P491L) arising de novo. Recently, HSAN1E has been suggested as an allelic disorder of autosomal dominant cerebellar ataxia, deafness and narcolepsy. Our results indicate that all the mutations causal for HSAN1E are located in the middle part or N-terminus end of the TS domain, whereas all the mutations causal for autosomal dominant cerebellar ataxia, deafness and narcolepsy are located in the C-terminus end of the TS domain. The impact of the seven causal mutations in this cohort was studied by cellular localization experiments. The binding efficiency of the mutant DNMT proteins at the replication foci and heterochromatin were evaluated. Phenotypic characterizations included electromyography, brain magnetic resonance and nuclear imaging, electroencephalography, sural nerve biopsies, sleep evaluation and neuropsychometric testing. The average survival of HSAN1E was 53.6 years. [standard deviation = 7.7, range 43-75 years], and mean onset age was 37.7 years. (standard deviation = 8.6, range 18-51 years). Expanded phenotypes include myoclonic seizures, auditory or visual hallucinations, and renal failure. Hypersomnia, rapid eye movement sleep disorder and/or narcolepsy were identified in 11 subjects. Global brain atrophy was found in 12 of 14 who had brain MRI. EEGs showed low frequency (delta waves) frontal-predominant abnormality in five of six patients. Marked variability in cognitive deficits was observed, but the majority of patients (89%) developed significant cognitive deficit by the age of 45 years. Cognitive function decline often started with personality changes and psychiatric manifestations. A triad of hearing loss, sensory neuropathy and cognitive decline remains as the stereotypic presentation of HSAN1E. Moreover, we show that mutant DNMT1 proteins translocate to the cytoplasm and are prone to form aggresomes while losing their binding ability to heterochromatin during the G2 cell cycle. Our results suggest mutations in DNMT1 result in imbalanced protein homeostasis through aggresome-induced autophagy. This mechanism may explain why mutations in the sole DNA maintenance methyltransferase lead to selective central and peripheral neurodegeneration.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f4def148fad12e85799ea261ea18ddTest
https://pubmed.ncbi.nlm.nih.gov/25678562Test