Results 41 to 50 of about 388,429 (227)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Representing Childhood and Forced Migration: Narratives of Borders and Belonging in European Screen Content for Children [PDF]

, 2019
This article explores representations of childhood and forced migration within a selection of European screen content for and about children. Based on the findings of a research project that examined the intersections of children’s media, diversity, and ...
Sakr, N., Sakr, N., Singer, C., Singer, C., Steemers, J., Steemers, J.   +5 more
core  

Pedagogy Embedded in Educational Software Design: Report of a Case Study [PDF]

, 2001
Most educational software is designed to foster students' learning outcomes but with little consideration of the teaching framework in which it will be used.
Hinostroza, Juan Enrique, Mellar, Harvey
core   +2 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Health screening clinic to reduce absenteeism and presenteeism among NHS Staff: eTHOS a pilot RCT

Health and Social Care Delivery Research
Background Staff sickness absenteeism and presenteeism (attending work while unwell) incur high costs to the NHS, are associated with adverse patient outcomes and have been exacerbated by the COVID-19 pandemic.
Rachel Adams, Rachel E Jordan, Alisha Maher, Peymane Adab, Timothy Barrett, Sheriden Bevan, Lucy Cooper, Ingrid DuRand, Florence Edwards, Pollyanna Hardy, Ciara Harris, Nicola R Heneghan, Kate Jolly, Sue Jowett, Tom Marshall, Margaret O’Hara, Christopher Poyner, Kiran Rai, Hugh Rickards, Ruth Riley, Natalie Ives, Steven Sadhra, Sarah Tearne, Gareth Walters, Elizabeth Sapey   +24 more
doaj   +1 more source

Wearable and mobile devices [PDF]

, 2005
Information and Communication Technologies, known as ICT, have undergone dramatic changes in the last 25 years. The 1980s was the decade of the Personal Computer (PC), which brought computing into the home and, in an educational setting, into the ...
de Freitas, Sara, Levene, Mark
core  

Trends in Dermatopolymyositis Mortality, 1999–2022: A Nationwide Population‐Based Study, United States

Arthritis Care &Research, EarlyView.
We report the national burden of dermatopolymyositis mortality over the past quarter century using the US national vital statistics data. Age‐standardized mortality rates for dermatopolymyositis decreased at an annual rate of 3.8% each year, which was higher than the annual percent decrease for deaths from all other causes.
Elizabeth Matz, Ram R. Singh
wiley   +1 more source

Everyday racism and "my tram experience": emotion, civic performance and learning on YouTube [PDF]

, 2012
Does the public expression and performance of shock, distress, anger, frustration and ideological disapproval of particular sorts of politics constitute a form of collective political expression from which individuals can learn about being citizens When ...
Banaji, Shakuntala
core   +3 more sources

​Did a Non‐Medical Biosimilar Switching Policy Cause an Increase in Non‐Biologic/Biosimilar Health Care Resource Utilization or Cost in Patients With Inflammatory Arthritis?

Arthritis Care &Research, EarlyView.
Objective This study aimed to evaluate the impact of a series of policies that mandated switching patients with inflammatory arthritis (IA) from an originator biologic to a biosimilar in British Columbia, Canada, on health care resource use and cost.
HaoHung Dang, Sandra Blitz, Nick Bansback, Michael Law, Mark Harrison   +4 more
wiley   +1 more source

Reduction in Renal Relapse and Preservation of Long‐Term Kidney Function After Lupus Low Disease Activity in Patients With Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective Lupus low disease activity state (LLDAS) is a validated treatment target in systemic lupus erythematosus (SLE), but limited studies have explored the role of LLDAS in lupus nephritis (LN). This study aims to investigate the frequency and predictors of LLDAS attainment and its benefit on LN relapse and renal function preservation in patients ...
Chak Kwan Cheung, Desmond Y. H. Yap, Ka Lai Lee, Philip H. Li, Iris Y. K. Tang, Chak Sing Lau, Shirley C. W. Chan   +6 more
wiley   +1 more source