DE eng

Search in the Catalogues and Directories

Page: 1 2 3 4 5...172
Hits 1 – 20 of 3.421

1
Dynamic functional brain network connectivity during pseudoword processing relates to children’s reading skill
BASE
Show details
2
One model for the learning of language.
In: Proceedings of the National Academy of Sciences of the United States of America, vol 119, iss 5 (2022)
BASE
Show details
3
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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; 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
URL: https://escholarship.org/uc/item/8mb0b802
BASE
Hide details
4
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
BASE
Show details
5
Cortical microstructure in primary progressive aphasia: a multicenter study.
In: Alzheimer's research & therapy, vol 14, iss 1 (2022)
BASE
Show details
6
Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
In: Developmental neurorehabilitation, vol 25, iss 2 (2022)
BASE
Show details
7
Satisfaction can co-exist with hesitation: qualitative analysis of acceptability of telemedicine among multi-lingual patients in a safety-net healthcare system during the COVID-19 pandemic.
In: BMC health services research, vol 22, iss 1 (2022)
BASE
Show details
8
Discrimination Experiences during COVID-19 among a National, Multi-Lingual, Community-Based Sample of Asian Americans and Pacific Islanders: COMPASS Findings.
In: International journal of environmental research and public health, vol 19, iss 2 (2022)
BASE
Show details
9
Barriers and Facilitators to the Implementation of a Community Doula Program for Black and Pacific Islander Pregnant People in San Francisco: Findings from a Partnered Process Evaluation.
In: Maternal and child health journal, vol 26, iss 4 (2022)
BASE
Show details
10
Open access dataset of task-free hemodynamic activity in 4-month-old infants during sleep using fNIRS. ...
Blanco, Borja; Molnar, Monika; Carreiras, Manuel. - : Apollo - University of Cambridge Repository, 2022
BASE
Show details
11
An Audibility Model of the Bone Conduction Device during Headband Trial in Single-sided Deaf Subjects. ...
BASE
Show details
12
An Audibility Model of the Bone Conduction Device during Headband Trial in Single-sided Deaf Subjects. ...
BASE
Show details
13
An Audibility Model of the Bone Conduction Device during Headband Trial in Single-sided Deaf Subjects. ...
BASE
Show details
14
Improving active listening behaviours of embodied conversational agents (ECA) from a UX perspective
Narayanan, Bharat. - : KTH, Skolan för elektroteknik och datavetenskap (EECS), 2022
BASE
Show details
15
Reduced cross-modal affective priming in the L2 of late bilinguals depends on L2 exposure.
BASE
Show details
16
Facilitators and barriers of women's participation in HIV clinical research in Switzerland: A qualitative study.
In: HIV medicine, vol. 23, no. 4, pp. 441-447 (2022)
BASE
Show details
17
Talking about chronic pain in family settings: a glimpse of older persons' everyday realities.
In: BMC geriatrics, vol. 22, no. 1, pp. 358 (2022)
BASE
Show details
18
Healthcare stakeholders' perspective on barriers to integrated care in Switzerland: Results from the open-ended question of a nationwide survey.
In: Journal of evaluation in clinical practice, vol. 28, no. 1, pp. 129-134 (2022)
BASE
Show details
19
Time Trends in Physical Activity Using Wearable Devices: A Systematic Review and Meta-analysis of Studies from 1995 to 2017
In: UNF Faculty Publications (2022)
BASE
Show details
20
Increased connectivity among sensory and motor regions during visual and audiovisual speech perception
In: Open Access Publications (2022)
BASE
Show details

Page: 1 2 3 4 5...172

Catalogues
0
0
0
0
0
0
0
Bibliographies
0
0
0
0
0
0
0
0
0
Linked Open Data catalogues
0
Online resources
0
0
0
0
Open access documents
3.421
0
0
0
0
© 2013 - 2024 Lin|gu|is|tik | Imprint | Privacy Policy | Datenschutzeinstellungen ändern