Results 231 to 240 of about 267,271 (334)

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

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Institutional Drug Information Dissemination in Ghana: Barriers, Enablers, and System-Level insights

Asare BA, Abassah-Konadu E, Amankwah I, Tabariyeng JN, Afriyie-Twumasi A, Adu M, Otoo DD, Yevutsey SK, Dalaba MA, Immurana M, Aberese-Ako M, Azeez J, Ansah E, Okorosobo T, Ogundahunsi O, Hodgson A, Gyapong M.   +16 more
europepmc   +1 more source

A national benchmarking survey to explore the use of dose error reduction software in adult intensive care units (ICUs). [PDF]

J Intensive Care Soc
Morgan S, Lamont S.
europepmc   +1 more source

Involvement of people living with HIV/AIDS in treatment preparedness in Thailand: A case study [PDF]

, 2004
Adpoon, P, Ford, Nathan, Kaetkaew, S, Kasi-Sedapan, S, Kumphitak, A, Praemchaiporn, J, Sae-Lim, A, Tapa, S, Teekmanka, S, Tienudom, N, Upakaew, K, Wilson, David   +11 more
core   +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

Association Between Statins Use and Major Bleeding in Patients Using Direct Oral Anticoagulants for Atrial Fibrillation. [PDF]

Pharmacoepidemiol Drug Saf
de Burgos-González A, Cea-Soriano L, Huerta-Álvarez C.   +2 more
europepmc   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Longitudinal Trends in Medicine Supply, Price and Utilisation in Primary Care Facilities in Rural Southwestern China Under National Essential Medicines Policy (2012-2017): Disparities Across Facilities and Medicines. [PDF]

Int J Health Policy Manag
Huo Z, Xiong X, Bai G, Quan J, Lee AT, Lam LC, Luo L.   +6 more
europepmc   +1 more source