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 +11 more
wiley +1 more source
Effectiveness of a Train-the-Trainer Pedagogical Pilot Workshop in Improving Educators' Knowledge and Competency in Objective Structured Clinical Examination Implementation. [PDF]
CureusBen Amor A +8 more
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
La notion de pertinence en traduction juridique bidirectionnelle français-allemand
, 2017 This thesis deals with the question of the intelligibility of legal translation for a legal practitioner. Our working hypothesis is that the failure of the legal translation is explained by the lack of relevance of the translation for its user.
Durr, Margarete
core
Les lignes directrices sur l’hypertension échouent à l’évaluation G-Trust. [PDF]
Can Fam PhysicianBoussageon R.
europepmc +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
Pertinence perspective and OPAC enhancement
, 2010 The starting-point of the paper is the debate recently developed in LIS literature about OPAC enhancement and the necessity to design OPACs based on search engines features. Supposed improving tools as relevance ranking and relevance feedback devices are
BIAGETTI, Maria Teresa
core
La maladie à dépôts de pyrophosphate de calcium. [PDF]
CMAJKwok TSH, Choy G.
europepmc +1 more source
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source
Facilitators and Barriers to Accessing Mental Health Care for Older Adults Who Are Primary Care Users in Chile: A Focus Group Study. [PDF]
Healthcare (Basel)Moreno X, García P, Huerta M.
europepmc +1 more source