Results 171 to 180 of about 141,446 (365)

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales   +6 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Distortion in the Communication of Nonsignificant Primary Outcomes: The Spin Strategy in Multiple Sclerosis Trials

open access: yesAnnals of Neurology, EarlyView.
Objective Spin refers to reporting strategies that highlight the benefits of an experimental treatment or divert attention from nonsignificant primary outcomes. To assess spin in randomized clinic trials (RCTs) on pharmaceutical efficacy in multiple sclerosis (MS) and explore associated factors.
Marta Mascareñas‐García   +10 more
wiley   +1 more source

Prognostic Value of Lupus Anticoagulant and Anti–β2 Glycoprotein I Antibody in Adverse Pregnancy Outcomes

open access: yesArthritis &Rheumatology, EarlyView.
Objective International criteria for antiphospholipid syndrome (APS) include lupus anticoagulant (LA), anticardiolipin (aCL) IgG and IgM, and anti–β2‐glycoprotein I (β2GPI) IgG and IgM. However, evidence supporting their prognostic value or treatment efficacy in improving live birth rates is limited.
Megumi Nonobe   +8 more
wiley   +1 more source

Prothrombotic Activation of Platelet Pannexin‐1 Channels in Antiphospholipid Syndrome

open access: yesArthritis &Rheumatology, EarlyView.
Objective ATP is released from platelets through both degranulation and pannexin‐1 (PANX1) channels. ATP then activates P2X receptors to amplify platelet activation via calcium‐dependent signaling. The objective of this study was to evaluate the role of platelet PANX1 channels in the pathophysiology of antiphospholipid syndrome (APS), an acquired ...
Bruna de Moraes Mazetto Fonseca   +13 more
wiley   +1 more source

Nationwide temporal trends in adverse pregnancy outcomes and treatments in systemic lupus erythematosus pregnancy over two decades in Sweden

open access: yesArthritis &Rheumatology, Accepted Article.
Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003‐2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003‐2022, and matched them to ...
Ngoc V. Nguyen   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy