Results 111 to 120 of about 4,218,098 (382)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Social practices of nurse care coordination using sensor technologies – Challenges with an alert system adoption in assisted living communities for older adults

International Journal of Nursing Sciences, 2021
Objectives: From the view of everyday practices and the socio-technical coordination lens, this study aimed to analyz the gap between creators’ intention and the users’ implementation (mainly nursing staff and social workers) of an alert system in ...
Isa Jahnke, Nathan Riedel, Mihail Popescu, Marjorie Skubic, Marilyn Rantz   +4 more
doaj  

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

The relationship between quality of life, health and care transition: an empirical comparison in an older post-acute population

Health and Quality of Life Outcomes, 2012
Background The aim of this study was to explore, via empirical comparison, the relationship between quality of life, as measured by the ICECAP-O capability index (a new instrument designed to measure and value quality of life in older people), with both ...
Couzner Leah, Ratcliffe Julie, Crotty Maria   +2 more
doaj   +1 more source

Health care utilization among immigrants and native-born populations in 11 European countries. Results from the Survey of Health, Ageing and Retirement in Europe [PDF]

Objective: This study examines health care utilization of immigrants relative to the native-born populations aged 50 years and older in eleven European countries.
Aïda Solé-Auró, Eileen M. Crimmins, Montserrat Guillén   +2 more
core   +3 more sources

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Injection of clarity needed? [PDF]

, 2003
The legal status of children who stay in hospital for three months or longer gives rise to considerable confusion among managers in social services and social work departments. And the number of young people affected is significant.
Carpenter, J., Connors, C., Phillips, R., Stalker, K.   +3 more
core   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Home care in the Federal District: factors associated with the first occurrence of acute lower respiratory infection and death

Revista da Sociedade Brasileira de Medicina Tropical
INTRODUCTION: We aimed to evaluate the frequency and associated factors of acute respiratory infection and death among home care patients in Sobradinho/DF, Brazil. METHODS: Data were obtained from patients’ medical records.
Leny Nunes de Barros, Maria Regina Fernandes de Oliveira   +1 more
doaj   +1 more source

Elderly caregiver: knowledge, attitudes and practices about falls and its prevention [PDF]

Revista Brasileira de Enfermagem
Objective: investigate the knowledge, attitudes and practices of informal elderly caregivers about falls and its prevention. Method: this is a descriptive cross-sectional study conducted with 97 informal elderly caregivers residents in areas covered by ...
Abigail Roxana Nina Mamani, Annelita Almeida Oliveira Reiners, Rosemeiry Capriata de Souza Azevedo, Akeisa Dieli Ribeiro Dalla Vechia, Neuber José Segri, Joana Darc Chaves Cardoso   +5 more
doaj   +3 more sources