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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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Korb, Manisha; Peck, Allison; Alfano, Lindsay N; Berger, Kenneth I; James, Meredith K; Ghoshal, Nupur; Healzer, Elise; Henchcliffe, Claire; Khan, Shaida; Mammen, Pradeep PA; Patel, Sujata; Pfeffer, Gerald; Ralston, Stuart H; Roy, Bhaskar; Seeley, William W; Swenson, Andrea; Mozaffar, Tahseen; Weihl, Conrad; Kimonis, Virginia; VCP Standards of Care Working Group
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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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.
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Keyword:
2.1 Biological and endogenous factors; Amyotrophic Lateral Sclerosis; Brain Disorders; Cell Cycle Proteins; Clinical Research; Genetics & Heredity; Humans; Inclusion Body; Mutation; Myositis; Neurodegenerative; Neurological; Neurosciences; Osteitis Deformans; Other Medical and Health Sciences; Rare Diseases; Standard of Care; Valosin Containing Protein; VCP Standards of Care Working Group
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URL: https://escholarship.org/uc/item/8mb0b802
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| 2 |
Addressing racial/ethnic inequities in vaccine hesitancy and uptake: lessons learned from the California alliance against COVID-19.
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СТАНДАРТНЫЕ ЯЗЫКОВЫЕ ПРОЦЕССЫ КАК МЕТОД СОПОСТАВЛЕНИЯ МИКРОСИСТЕМ ... : STANDARD LANGUAGE PROCESSES: COMPARATIVE STUDY OF MICROSYSTEMS ...
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Шабанова, Т.Д.; Юсупова, Ю.Р.. - : Государственное автономное образовательное учреждение высшего образования города Москвы «Московский городской педагогический университет», 2022
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| 5 |
АҒЫЛШЫН ТІЛІ САБАҒЫНДА ГЕТЕРОГЕНДІ ТОПТАРДА ЛЕКСИКАНЫ САРАЛАП ОҚЫТУ ... : ПРИМЕНЕНИЕ ДИФФЕРЕНЦИРОВАННОГО ПОДХОДА ПРИ ОБУЧЕНИИ ЛЕКСИКЕ В ГЕТЕРОГЕННЫХ ГРУППАХ НА УРОКАХ АНГЛИЙСКОГО ЯЗЫКА ...
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| 7 |
Investigating Perceptions of Teachers and School Nurses on Child and Adolescent Oral Health in Los Angeles County
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In: International Journal of Environmental Research and Public Health; Volume 19; Issue 8; Pages: 4722 (2022)
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| 8 |
How We Failed in Context: A Text-Mining Approach to Understanding Hotel Service Failures
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In: Sustainability; Volume 14; Issue 5; Pages: 2675 (2022)
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| 9 |
A Novel Approach for Multiplicative Linguistic Group Decision Making Based on Symmetrical Linguistic Chi-Square Deviation and VIKOR Method
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In: Symmetry; Volume 14; Issue 1; Pages: 136 (2022)
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| 10 |
Motherhood and Me (Mom-Me): The Development of an Acceptance-Based Group for Women with Postpartum Mood and Anxiety Symptoms
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In: Journal of Clinical Medicine; Volume 11; Issue 9; Pages: 2345 (2022)
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| 11 |
A Comprehensive Star Rating Approach for Cruise Ships Based on Interactive Group Decision Making with Personalized Individual Semantics
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In: Journal of Marine Science and Engineering; Volume 10; Issue 5; Pages: 638 (2022)
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| 12 |
Read the Signs: Detecting Early Warning Signals of Interreligious Conflict
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In: Religions; Volume 13; Issue 4; Pages: 329 (2022)
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| 13 |
Generalizing the Orbifold Model for Voice Leading
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In: Mathematics; Volume 10; Issue 6; Pages: 939 (2022)
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| 14 |
How UK HE STEM Students Were Motivated to Switch Their Cameras on: A Study of the Development of Compassionate Communications in Task-focused Online Group Meetings
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In: Education Sciences; Volume 12; Issue 5; Pages: 317 (2022)
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| 15 |
FORMS AND METHODS IN MODERN APPROACHES TO STUDENT SELF LEARNING ...
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| 16 |
FORMS AND METHODS IN MODERN APPROACHES TO STUDENT SELF LEARNING ...
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| 17 |
INTERACTIVE GAMES IN THE PROCESS OF TEACHING ENGLISH IN EDUCATIONAL INSTITUTIONS ...
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| 18 |
INTERACTIVE GAMES IN THE PROCESS OF TEACHING ENGLISH IN EDUCATIONAL INSTITUTIONS ...
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| 19 |
Entwicklung und Evaluation einer 6-Tages-Intensivtherapie bei Kindern (5 - 10 Jahre) mit Lippen-Kiefer-Gaumen-Segel-Fehlbildung
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| 20 |
The mediating role of parents and school in peer aggression problems ; Posredniška vloga staršev in šole pri vrstniškem nasilju
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In: CEPS Journal 12 (2022) 1, S. 169-188 (2022)
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