Publications by authors named "Kathryn O'Keefe"

Objective: It has long been documented that cognitive behavioral therapy (CBT) has positive impacts on improving mental health (MH) and quality of life (QoL) in the general population, but investigations on its effect on cancer survivors remain limited, especially for QoL outcomes. The purpose of this meta-analysis is to investigate the effects of CBT as compared to control on cancer patients' MH and QoL outcomes. Control is defined in this study as standard therapy, waitlist control, and active/alternative therapy.

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Background: Cognitive behavioral therapy (CBT) has been successfully utilized in improving mental health (MH) and quality of life (QoL) in the general population, regardless of age. Cancer, which is most frequently diagnosed in older adults, is a debilitating illness that has a detrimental and long-lasting effect on patients' MH and QoL. While numerous studies have demonstrated CBT's efficacy, little evidence exists for its role in older cancer patients.

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Article Synopsis
  • Short-read genome sequencing (GS) shows promise as a primary diagnostic tool for autism spectrum disorder (ASD) and fetal structural anomalies (FSAs), outperforming standard tests like karyotype and exome sequencing (ES).
  • In a study of 1,612 families with ASD and 295 prenatal families, GS revealed a diagnostic variant in 7.8% of ASD cases, significantly higher than the diagnostic yields of chromosomal microarray (CMA) at 4.3% and ES at 2.7%.
  • GS also demonstrated a potential diagnostic yield of 46.1% in unselected FSAs, surpassing conventional tests, which indicates its strong efficacy and positions it as a recommended first-tier diagnostic
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Article Synopsis
  • Point mutations and structural variants that disrupt MEF2C coding sequences are linked to various neurodevelopmental disorders, but the detailed effects on neurodevelopment and the regulatory mechanisms remain unclear.
  • Researchers created an allelic series of human stem cells and neurons with CRISPR-engineered mutations to investigate how these changes affect MEF2C expression, finding notable alterations in gene expressions related to neurodevelopment and synaptic function.
  • The study revealed that deleting MEF2C decreases synaptic activity and impacts gene expression significantly, while changes to specific genomic boundaries can buffer against some regulatory disruptions, illustrating the complexity of genetic regulation in neuronal cells.
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Chromosome 16p11.2 reciprocal genomic disorder, resulting from recurrent copy-number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD), and schizophrenia, but the responsible mechanisms are not known. To systemically dissect molecular effects, we performed transcriptome profiling of 350 libraries from six tissues (cortex, cerebellum, striatum, liver, brown fat, and white fat) in mouse models harboring CNVs of the syntenic 7qF3 region, as well as cellular, transcriptional, and single-cell analyses in 54 isogenic neural stem cell, induced neuron, and cerebral organoid models of CRISPR-engineered 16p11.

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Dystonia is a neurologic disorder associated with an increasingly large number of genetic variants in many genes, resulting in characteristic disturbances in volitional movement. Dissecting the relationships between these mutations and their functional outcomes is critical in understanding the pathways that drive dystonia pathogenesis. Here we established a pipeline for characterizing an allelic series of dystonia-specific mutations.

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Objectives: Pulmonary hypertension and right ventricular dysfunction can complicate lung transplant. Pulmonary artery pressures affect outcome are uncertain during wait list. We evaluated changes in wait list pulmonary artery pressures on survival after lung transplant.

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Aortic valve replacement with stentless xenografts has become routine since their introduction in the early 1990s. Although concerns of structural valve deterioration and long-term durability have been voiced, the reports on the causes or pathology associated with early valve failure have been sparse. We report two unusual cases of failure leading to patient death within the first year after implantation of the aortic valve and root with the Freestyle prostheses (Medtronic Inc, Minneapolis, MN).

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Background: Although morbid obesity rates in patients >or=65 years of age are increasing, few centers have reported weight loss surgery outcomes in elderly patients, resulting in a paucity of literature on perioperative mortality and morbidity.

Methods: A retrospective analysis was performed on 197 consecutive patients >or=65 years old who underwent weight loss surgery from January 2000 to December 2007. Primary data points included 30-day and 1-year mortality rates, length of stay (LOS), percent excess weight loss (EWL), change in daily medication use, and quality of life (QOL).

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Fly-fishing is a popular form of recreation. Recent evidence has associated overhand fly-casting movements with upper extremity pain. However, little research exists on the motions and coordination common to fly-casting.

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