Results 71 to 80 of about 78,725 (297)

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

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Groping for Autonomy: The Federal Government and American Hospitals [PDF]

, 1999
This article chronicles the slow but steady emergence of countervailing power in the hospital industry since mid-century. The transformation of American health care policymaking reflects the federal government\u27s growing fiscal obligations as the ...
Hackey, Robert B.
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Comparative study of three types of technology fee system for R&D performance under government R&D projects

Journal of Intellectual Property
Prior to the enactment of the National Research And Development Innovation Act, there were no definitions of key terms related to national R&D, which made it difficult for the public, including researchers, to clearly understand national R&D.
JaeHoon Lee
doaj   +1 more source

Limitations of Authority of Implementation of Tasks In Running The Local Government Duty

Yurisdiksi: Jurnal Wacana Hukum dan Sains, 2021
Where constitutional conflicts occur, which is actually a law that prohibits Acting from signing APBD, but a Ministerial Regulation allows Plt to sign APBD. Where there are written rules that leave regulations outside the State Dependency for Governors, Regents and Mayors explaining an authority written by the Acting Minister of Domestic Affairs ...
Fitri Wulandari, Danang Teguh Ariwibowo, Azhar Syarif Sanjaya, Nabila Husniyah Susanto, Mega Lestari   +4 more
openaire   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

Formal and informal social care in people with Rheumatic and Musculoskeletal diseases: a cross‐sectional multicentre survey

Arthritis Care &Research, Accepted Article.
Introduction Rheumatic and musculoskeletal diseases(RMDs) are leading causes of physical disability, necessitating support with activities of daily living(ADLs). This study describes social care received by patients with RMDs in two disperate regions of England: Salford(urban) and Norfolk(rural).
Mehreen Somro, Karen Durrant, William G Dixon, John McBeth, Alex MacGregor, Max Yates, Jenny H Humphreys   +6 more
wiley   +1 more source

Associations of Rheumatoid Arthritis Disease Activity with Frailty Over Five Years of Follow‐up

Arthritis Care &Research, Accepted Article.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis registry enrolled from 2003 to 2022 were included. The exposure was RA disease activity measured by Disease Activity Score in 28‐joints (DAS28)
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source

Civil Wrongs [PDF]

, 2008
The Bush administration promised not to single out Arabs and Muslims with measures, but in practice it did exactly that. These measures signaled to and non-citizens alike, that American legal protections did not really apply little in the way of ...
Cainkar, Louise
core   +1 more source