Publications by authors named "K D Lamar"

encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.

View Article and Find Full Text PDF
Article Synopsis
  • Long non-coding RNAs (lncRNAs) make up a significant part of the human genome, but findings show that a specific lncRNA, located near a coding gene, is linked to severe developmental disorders and epilepsy through harmful mutations.
  • Researchers found three individuals with a rare deletion affecting this lncRNA, displaying similar symptoms such as developmental delays and distinct facial features, differing from typical haploinsufficiency effects.
  • The study revealed that this deletion leads to altered mRNA and protein levels in patients, demonstrating that structural variants can cause neurodevelopmental disorders and emphasizing the importance of further evaluating lncRNAs in relation to genetic diseases.
View Article and Find Full Text PDF

Soluble cell adhesion molecules (sCAMs) are secreted ectodomain fragments of surface adhesion molecules, ICAM1 and VCAM1. sCAMs have diverse immune functions beyond their primary function, impacting immune cell recruitment and activation. Elevated sVCAM1 levels have been found to be associated with poor cardiovascular disease (CVD) outcomes, supporting VCAM1's role as a potential diagnostic marker and therapeutic target.

View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to evaluate the impact of activity levels (high vs. low) on the survivorship of implants following total joint arthroplasty (TJA) over a minimum of five years.
  • A cohort of 396 high activity (HA) patients was analyzed and compared to low activity (LA) patients matched by age, sex, and body mass index regarding revision rates and adverse events.
  • The findings showed no significant differences in implant survivorship, reoperations, or adverse events between HA and LA patients, suggesting potential changes in recommendations for activity levels after surgery.
View Article and Find Full Text PDF