Results 201 to 210 of about 3,892,232 (280)

A qualitative study of the ethical issues encountered at end-of-life care at a university teaching hospital in Nigeria. [PDF]

J Med Ethics
Udeh NN, Idemili Aronu N, Ezeome ER.
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Learning from end-of-life injectable medication patient safety incidents in the community: a mixed-methods analysis. [PDF]

Br J Gen Pract
Bowers B, Gwyn S, Yardley S, Hellard S, Clarkson PJ, McFadzean IJ, Pollock K, Barclay S, Carson-Stevens A.   +8 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Setting research priorities for palliative and end-of-life care: a James Lind Alliance Priority Setting Partnership Refresh. [PDF]

BMJ Open
Hudson BF, Ashcroft P, Bedford J, Bush J, Bowers B, Dawson A, Hussain J, Holmes S, Kumar R, Minton O, McCullagh A, Nicoll L, Penny A, Rabbitte M, Reece A, Robinson D, Simpson-Greene C, Taylor M, Best SL.   +18 more
europepmc   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Provision of palliative and end-of-life care by community health nurses: A scoping review on the challenges and potential solutions. [PDF]

Int J Nurs Stud Adv
Pask S, Greenley S, Ip CY, Macdonald G, Yorganci E, Waring A, Sleeman KE, Johnson MJ, Walshe C, Pearson M, Evans CJ, Murtagh FEM.   +11 more
europepmc   +1 more source