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1
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
Korb, Manisha
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Peck, Allison
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Alfano, Lindsay N
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Berger, Kenneth I
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James, Meredith K
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Ghoshal, Nupur
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Healzer, Elise
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Henchcliffe, Claire
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Khan, Shaida
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Mammen, Pradeep PA
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Patel, Sujata
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Pfeffer, Gerald
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Ralston, Stuart H
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Roy, Bhaskar
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Seeley, William W
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Swenson, Andrea
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Mozaffar, Tahseen
;
Weihl, Conrad
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Kimonis, Virginia
;
VCP Standards of Care Working Group
In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
Abstract:
Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget's disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group's conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally.
Keyword:
2.1 Biological and endogenous factors
;
Amyotrophic Lateral Sclerosis
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Brain Disorders
;
Cell Cycle Proteins
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Clinical Research
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Genetics & Heredity
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Humans
;
Inclusion Body
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Mutation
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Myositis
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Neurodegenerative
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Neurological
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Neurosciences
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Osteitis Deformans
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Other Medical and Health Sciences
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Rare Diseases
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Standard of Care
;
Valosin Containing Protein
;
VCP Standards of Care Working Group
URL:
https://escholarship.org/uc/item/8mb0b802
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2
Towards equitable and trustworthy genomics research. ...
Atutornu, Jerome
;
Milne, Richard
;
Costa, Alesia
. - : Apollo - University of Cambridge Repository, 2022
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3
International Faculty's Perspectives on Organizational Culture and Management: A Three-Step Action Plan ...
Westwood, Marilyn
. - : Zenodo, 2022
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4
International Faculty's Perspectives on Organizational Culture and Management: A Three-Step Action Plan ...
Westwood, Marilyn
. - : Zenodo, 2022
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5
Proceedings of the International Conference on "Minority languages spoken or signed and inclusive spaces" ...
Moreau, Cédric
;
Le Calvez, Vincent
;
Maillet, Séverine
. - : Zenodo, 2022
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6
Proceedings of the International Conference on "Minority languages spoken or signed and inclusive spaces" ...
Moreau, Cédric
;
Le Calvez, Vincent
;
Maillet, Séverine
. - : Zenodo, 2022
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7
Members of the Polish Language Council on the Problems of Linguistic Diversity and Linguistic Inclusion in Poland
Wallas, Tadeusz
;
Hordecki, Bartosz
In: Social Inclusion ; 9 ; 1 ; 63-74 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
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8
Towards Inclusion in Spanish Higher Education: Understanding the Relationship between Identification and Discrimination
Gallego-Noche, Beatriz
;
Goenechea, Cristina
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Antolínez‐Domínguez, Inmaculada
...
In: Social Inclusion ; 9 ; 3 ; 81-93 ; Inclusive Universities in a Globalized World (2022)
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9
Social Inclusion and Multilingualism: Linguistic Justice and Language Policy
Csata, Zsombor
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Marácz, László
In: Social Inclusion ; 9 ; 1 ; 1-4 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
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10
What Constitutes a Local Public Sphere? Building a Monitoring Framework for Comparative Analysis
Fischer, Renate
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Keinert, Alexa
;
Jarren, Otfried
...
In: Media and Communication ; 9 ; 3 ; 85-96 ; Spaces, Places, and Geographies of Public Spheres (2022)
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11
Two Linguas Francas? Social Inclusion through English and Esperanto
Gobbo, Federico
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Marácz, László
In: Social Inclusion ; 9 ; 1 ; 75-84 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
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12
Relational Communication Spaces: Infrastructures and Discursive Practices
Keinert, Alexa
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Sayman, Volkan
;
Maier, Daniel
In: Media and Communication ; 9 ; 3 ; 28-39 ; Spaces, Places, and Geographies of Public Spheres (2022)
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13
Multilingualism and Social Inclusion in Scotland: Language Options and Ligatures of the "1+2 Language Approach"
Kanaki, Argyro
In: Social Inclusion ; 9 ; 1 ; 14-23 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
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14
Towards Portuguese Sign Language Identification Using Deep Learning
Ricardo Vardasca, PhD, ASIS, FRPS
;
Martinho, Domingos
. - 2022
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15
CLIL as an inclusive approach. a didactic proposal to attend to diversity
García Román, María del Carmen
. - : Universidad de Córdoba, 2022
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16
Understanding cyberslacking intention during Covid-19 online classes: An fsQCA analysis
Mumu, Jinnatul Raihan
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Connolly, Regina
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Wanke, Peter
. - 2022
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17
How can we recruit more men of African or African-Caribbean ancestry into our research? Co-creating a video to raise awareness of prostate cancer risk and the PROFILE study
Hainsworth, Emma
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McGrowder, Eva
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McHugh, Jana
. - : BioMed Central, 2022
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18
La inclusividad lingüística en la educación multilingüe de California: coexistencia de las variedades y registros de lengua para enriquecer el aula de inmersión dual
Solsona Puig, Jordi
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Capdevila Gutiérrez, María
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Rodríguez Valls, Fernando
. - : Universidad de La Sabana. Facultad de Educación, 2022
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19
Effects of Social Stories on Increasing Social Interaction and Engagement of Deaf and Hard of Hearing Students with Autism Spectrum Disorder in Inclusive Settings
Kwon, Eun Young
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Cannon, Joanna E
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Knight, Victoria F
...
In: UNF Faculty Publications (2022)
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20
Welcoming and Inclusive Farmers Markets: A Community of Practice to Encourage Diversity, Equity, and Inclusion
Pace, Jaclyn
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Emmons, Regan
;
Hall, Kelsey
...
In: Outcomes and Impact Quarterly (2022)
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