Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

Background: Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentation involving mutations in both the GLI3 and TBX5 genes, offering a deeper understanding of the genetic interactions that may influence limb development. This case report is important to increase our knowledge on genetic bases of limb malformations.

Harnessing the epic electronic medical record to track indwelling ureteral stents in a pediatric population.

Introduction: Retention of indwelling ureteral stents due to loss to follow-up can result in significant harm to patients, often requiring multiple trips to the operating room. Despite widespread use of electronic medical records, there are few standardized options for urologists to track ureteral stents and no data on the rate of retained stents in a pediatric population.

Objective: This pilot quality improvement project aims to: 1) develop a simple process to track indwelling ureteral stents using the Epic electronic medical record and 2) determine the incidence of forgotten stents in a pediatric population.

High Levels of Receptor Tyrosine Kinases in CCM3-Deficient Cells Increase Their Susceptibility to Tyrosine Kinase Inhibition.

Cerebral cavernous malformations (CCMs) are vascular malformations that can be the result of the deficiency of one of the CCM genes. Their only present treatment is surgical removal, which is not always possible, and an alternative pharmacological strategy to eliminate them is actively sought. We have studied the effect of the lack of one of the CCM genes, CCM3, in endothelial and non-endothelial cells.

The MST3/STK24 kinase mediates impaired fasting blood glucose after a high-fat diet.

Aims/hypothesis: The identification of mediators in the pathogenesis of type 2 diabetes mellitus is essential for the full understanding of this disease. Protein kinases are especially important because of their potential as pharmacological targets. The goal of this study was to investigate whether mammalian sterile-20 3 (MST3/STK24), a stress-regulated kinase, is involved in metabolic alterations in obesity.

The cerebral cavernous malformation 3 gene is necessary for senescence induction.

Mutations in cerebral cavernous malformation 3 gene are known to result in development of vascular malformations and have recently been proposed to also give rise to meningiomas. We report in this study that lack of CCM3 unexpectedly impairs the senescence response of cells, and this is related to the inability of CCM3-deficient cells to induce the C/EBPβ transcription factor and implement the senescence-associated secretory phenotype. Induction of C/EBPβ and cytokines is also impaired in the absence of CCM3 in response to cytokines in nonsenescent cells, pointing to it being a primary defect and not secondary to impaired senescence.