Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.

Systemic capillary leak syndrome (SCLS) is a rare life-threatening disorder due to profound vascular leak. The trigger and the cause of the disease are currently unknown and there is no specific treatment. Here, we identified a rare heterozygous splice-site variant in the TLN1 gene in a familial SCLS case, suggestive of autosomal dominant inheritance with incomplete penetrance.

Evaluating the Impact of Direct, Direct Video, and Indirect Video Laryngoscopy Training on the Proficiency of Medical Students in Performing Direct Laryngoscopy: A High-Fidelity Manikin-Based Assessment.

Endotracheal intubation (ETI), a potentially lifesaving intervention employed frequently in the emergent setting, is a manual skill that improves with repetitive practice and high-quality feedback. Classically, ETI centered around Direct Laryngoscopy (DL); however, with the advent and recent availability of Indirect Video Laryngoscopy (IVL) and Direct Video Laryngoscopy (DVL), studies have demonstrated varying results on the benefit of Video Laryngoscopy (VL) in training. We hypothesize that a training program centered on DVL, allowing students to visualize the anatomy and simultaneously receive instructor feedback via a real-time video feed, will practically improve student performance in DL.

Dual-labeled anti-GD2 targeted probe for intraoperative molecular imaging of neuroblastoma.

Background: Surgical resection is integral for the treatment of neuroblastoma, the most common extracranial solid malignancy in children. Safely locating and resecting primary tumor and remote deposits of disease remains a significant challenge, resulting in high rates of complications and incomplete surgery, worsening outcomes. Intraoperative molecular imaging (IMI) uses targeted radioactive or fluorescent tracers to identify and visualize tumors intraoperatively.