Publications by authors named "J F Gleeson"
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.
View Article and Find Full Text PDFArticle Synopsis
- This study identifies a new type of autosomal recessive intellectual disability linked to genetic variants in the GTF3C3 gene, which is essential for proper RNA polymerase III activity.
- Researchers employed various methods, including exome sequencing and Drosophila models, to analyze the effects of GTF3C3 variants found in twelve affected individuals from seven families.
- The results showed that the variants lead to significant functional losses in the gene, correlating with symptoms like intellectual disability, motor issues, seizures, and brain structure abnormalities.
A mindfulness-based, cognitive, social, digital relapse-prevention intervention for youth with depression in Australia: study protocol for a randomised controlled trial of Rebound.
BMJ Open
November 2024
Article Synopsis
- * A new online social therapy platform has been developed to support young people with MDD through peer networking, therapeutic content, and various human supports, aiming to prevent relapses alongside traditional treatments.
- * This study will conduct a randomised controlled trial with 255 participants aged 14-27, tracking outcomes like depressive relapse and psychological symptoms over 18 months to assess the effectiveness of the new intervention compared to enhanced usual care.
Individualized genetic therapies-medicines that precisely target a genetic variant that may only be found in a small number of individuals, as few as only one-offer promise for addressing unmet needs in genetic disease, but present unique challenges for trial design. By nature these new individualized medicines require testing in individualized N-of-1 trials. Here, we provide a framework for maintaining scientific rigor in N-of-1 trials.
View Article and Find Full Text PDFArticle Synopsis
- Ovarian cancer has the worst prognosis among gynecological cancers, making accurate pre-operative and intraoperative diagnosis crucial for improving patient outcomes.* -
- A study reviewed 156 cases of ovarian masses, comparing final histological diagnoses with ultrasound, MRI, and frozen section (FS) to determine diagnostic accuracy; FS showed high sensitivity for detecting malignancies.* -
- While FS is effective for diagnosing ovarian tumors, the study highlights ongoing challenges in accurately diagnosing borderline ovarian tumors using both imaging techniques and FS.*