Publications by authors named "W R Kelley"
Article Synopsis
- - Microtubule affinity-regulating kinase 2 (MARK2) is crucial for neurons to develop properly, and variants in MARK2 have been linked to autism spectrum disorder (ASD) and other neurodevelopmental issues, with most being loss-of-function mutations.
- - A study analyzed 31 individuals with MARK2 variants showing ASD along with unique facial features, finding that the loss of MARK2 disrupts early neuron development and leads to abnormal growth patterns in neural cells.
- - Research using iPSC models and MARK2-deficient mice highlighted the link between MARK2 loss and issues in neuronal function, connecting it to the reduction of the WNT/β-catenin signaling pathway, while suggesting lithium as a potential treatment
Objective: We previously reported the possible pathogenic role, among infants born ≤29 weeks, of transfusions in bronchopulmonary dysplasia. The present study examined this association in infants born >31 weeks.
Study Design: Analysis of red blood cell (RBC) and platelet transfusions in five NICUs to infants born >31 weeks, and chronic neonatal lung disease (CNLD) at six-weeks of age.
Article Synopsis
- * Amiodarone is effective but poses dosing challenges due to its narrow therapeutic window and long half-life, especially in patients undergoing CRRT.
- * An ex vivo study found that CRRT circuits significantly extract amiodarone, with only 23% remaining in plasma after 6 hours, indicating that dosage adjustments may be necessary to maintain effective drug concentrations.
BOOSTING SKULL-STRIPPING PERFORMANCE FOR PEDIATRIC BRAIN IMAGES.
Proc IEEE Int Symp Biomed Imaging
May 2024
Skull-stripping is the removal of background and non-brain anatomical features from brain images. While many skull-stripping tools exist, few target pediatric populations. With the emergence of multi-institutional pediatric data acquisition efforts to broaden the understanding of perinatal brain development, it is essential to develop robust and well-tested tools ready for the relevant data processing.
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- Long-read genome sequencing (lrGS) offers more accurate and comprehensive variant detection for rare diseases compared to short-read genome sequencing (srGS), though its exact impact on diagnostic yield remains unclear.
- In a study involving 96 individuals suspected of having genetic rare diseases, lrGS identified new or potentially relevant genetic variants in 16.7% of participants, with 9.4% possessing pathogenic or likely pathogenic variants.
- While lrGS provided additional insights beyond what was captured by srGS, particularly with structural variations, the study suggests that growing lrGS datasets will further enhance diagnostic capabilities in the future.