Results 81 to 90 of about 600,594 (243)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Hospital Discharge Process Improvement
Introduction: It is clear that if the discharge process takes less time and the patient leaves the hospital bed earlier, the length of hospitalization, and consequently, the waiting time for admission decreases.
Yasaman Ketabi, Saeedeh Ketabi
doaj
The discharge of patients with diabetes from Internal Medicine Units: a clinical audit
The aim of the present study was to address it by conducting a clinical audit, one that focused on the quality evaluation of the assistance given to patients with diabetes at the moment of their discharge from hospital.
Andrea Montagnani +10 more
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
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 +3 more
wiley +1 more source
Early hospital discharge following mastectomy
Data involving 43 Consecutive patients undergoing either modified radical mastectomy, simple mastectomy, partial mastectomy, or axillary dissection following wide local excision over a fourmonth period were reviewed. Twenty-one patients were kept in the hospital after the operation until the drain was removed and 22 patients were instructed about drain
R, Tarazi +3 more
openaire +2 more sources
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
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 +10 more
wiley +1 more source
Objective This systematic review aimed to assess the diagnostic accuracy of algorithms used to identify rheumatoid arthritis and juvenile idiopathic arthritis in electronic health records. Methods We searched Medline, Embase, and Cochrane Central Register for Controlled Trials databases and included studies that validated case definitions against a ...
Constanza Saka‐Herrán +10 more
wiley +1 more source
Objective We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analyzed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalized with AMI between 2005 and 2019 from the Myocardial Ischaemia ...
Megan Butler +8 more
wiley +1 more source
Thyroid carcinoma follow-up: tertiary to primary care transition in Portugal
Purpose: The transition of differentiated thyroid carcinoma (DTC) care from hospital to primary care remains controversial. Current studies suggest that low-risk patients with an excellent response to therapy are safely followed up by primary care ...
Renata Barbosa +3 more
doaj +1 more source
Trajectories of Physical Function in Canadian Children with Juvenile Idiopathic Arthritis
Objectives We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham +14 more
wiley +1 more source

