Results 161 to 170 of about 1,601 (250)
H S, Chawla, P, Kaur, M, Shamsudheen
openaire +1 more source
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
A rapid, flexible method for incorporating controlled antibiotic release into porous polymethylmethacrylate space maintainers for craniofacial reconstruction. [PDF]
Mountziaris PM +4 more
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
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 +16 more
wiley +1 more source
Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients
Objective Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla +6 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
Objectives Systemic lupus erythematosus (SLE) is a heterogenous inflammatory condition, with widely varying global prevalence estimates. Frequency of SLE in the general population of Australia has been reported to be notably lower than contemporary estimates in countries such as the US or UK at 19‐39 per 100,000 as opposed to 65‐97 per 100,000.
Lucinda Roper +7 more
wiley +1 more source
A Comparative Study of Biodegradation of Nickel and Chromium from Space Maintainers: An in vitro Study. [PDF]
Anand A +5 more
europepmc +1 more source
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcomes measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semi‐structured interviews ...
Catherine Nasrallah +13 more
wiley +1 more source
Effects of Local Antibiotic Delivery from Porous Space Maintainers on Infection Clearance and Induction of an Osteogenic Membrane in an Infected Bone Defect. [PDF]
Shah SR +10 more
europepmc +1 more source

