Results 171 to 180 of about 1,790,302 (324)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Do Australian health consumers understand and intend to use Patient Reported Experience Measures (PREMs) when selecting a hospital?: A qualitative exploration of online hospital report cards

Health Literacy and Communication Open
Background This study explores Australian consumers’ perceptions, comprehension, and intended use of Patient Reported Experience Measures (PREMs) from Hospital Report Cards in future hospital decision-making, with a focus on health literacy.Methods. Data
Madeline Schultz, Krista Verlis, Brooke Nickel, Kirsten McCaffery, Tessa Copp, Rebekah Laidsaar-Powell   +5 more
doaj   +1 more source

Development of Valid and Reliable Measures of Patient and Family Experiences of Hospice Care for Public Reporting [PDF]

, 2018
Rebecca Anhang Price, Brian D. Stucky, Layla Parast, Marc N. Elliott, Ann Haas, Melissa A. Bradley, Joan M. Teno   +6 more
openalex   +1 more source

Developing and exploring the validity of a patient reported experience measure for adult inpatient diabetes care [PDF]

, 2023
Olga Kozłowska, Amy Tallett, Samuel Bond, Sarah Mansbridge, Helen Aveyard, Crispin Jenkinson, Alexander Dudbridge, Nicky McRobert, Alistair Lumb, Rustam Rea, Garry D. Tan, Helen Walthall   +11 more
openalex   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

International cross-cultural development and field testing of the primary care practice questionnaire for the PaRIS survey (PaRIS-PCPQ)

BMC Primary Care
Background The PaRIS survey, an initiative of the Organisation for Economic Co-operation and Development (OECD), aims to assess health systems performance in delivering primary care by measuring the care experiences and outcomes of people over 45 who ...
Janika Bloemeke-Cammin, Oliver Groene, Marta Ballester, Frederico Guanais, Peter Groenewegen, Candan Kendir, Ian Porter, Amun Rehsi, Mieke Rijken, Peter Spreeuwenberg, Rosa Suñol, Jose Maria Valderas, Rachel Williams, Michael van den Berg   +13 more
doaj   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Patient expectation and experience of MR-guided radiotherapy using a 1.5T MR-Linac

Technical Innovations & Patient Support in Radiation Oncology
Background and Purpose: Online adaptive MR-guided radiotherapy (MRgRT) is a relatively new form of radiotherapy treatment, delivered using a MR-Linac. It is unknown what patients expect from this treatment and whether these expectations are met.
S.R. de Mol van Otterloo, J.M. Westerhoff, T. Leer, R.H.A. Rutgers, L.T.C. Meijers, L.A. Daamen, M.P.W. Intven, H.M. Verkooijen   +7 more
doaj  

Qualitative exploration of the renal stone patients’ experience and development of the renal stone‐specific patient‐reported outcome measure [PDF]

, 2019
M. Ragab, Nikolay Baldin, Jane Collie, Maxine Tran, Sami Al‐Hayek, Kasra Saeb‐Parsy, James A. Armitage, Oliver Wiseman   +7 more
openalex   +1 more source

SP4.1 Outcomes of Patient Reported Experience Measures (PREM) in Diabetic foot clinic [PDF]

, 2023
Raghvinder Gambhir, Pradhay Sreeramulu, Maureen Bates, Chris Manu, Hani Slim, Prash Vas   +5 more
openalex   +1 more source