Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.

While de novo missense variants in the BTB domains of atypical RhoGTPase RHOBTB2 cause a severe developmental and epileptic encephalopathy, de novo missense variants in the GTPase domain or bi-allelic truncating variants are associated with more variable neurodevelopmental and seizure phenotypes. Apart from the observation of RHOBTB2 abundance resulting from BTB-domain variants and increased seizure susceptibility in Drosophila overexpressing RhoBTB, our knowledge on RHOBTB2-related pathomechanisms is limited. We now found enrichment for ion channels among the differentially expressed genes from RNA-Seq on fly heads overexpressing RhoBTB.

Optimizing Photobiomodulation Radiometric and Spectral Parameters In Vitro to Enhance Angiogenesis and Mitochondrial Function.

Photobiomodulation (PBM) therapy, a therapeutic approach utilizing low-level light, has garnered significant attention for its potential to modulate various biological processes. This study aimed at optimizing and investigating the effects of PBM on angiogenesis and mitochondrial metabolic activity. In vitro experiments using human umbilical vein endothelial cells (HUVECs) and vascular smooth muscle cells (VSMCs) were performed to assess PBM's impacts on cell migration, proliferation, endogenous protoporphyrin IX production, mitochondrial membrane potential, Rhodamine 123 fluorescence lifetime, mitochondrial morphology, and oxygen consumption.

Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD).

Patients with LCHADD develop progressive chorioretinopathy with vision loss over time. To date, no data on the impact of vision loss on patient vision-specific activities of daily living or quality of life have been reported. We used validated ophthalmic patient-reported outcome measures (PROMs) to compare the impact of patient-perceived visual function to visual acuity and an ophthalmologist-graded stage of LCHADD chorioretinopathy.

Feasibility of computed tomography-derived surgical margin assessment in an ex vivo sublobar lung resection model.

Objectives: Computed tomography (CT) imaging of a sublobar resection specimen may inform intraoperative surgical margin assessment. However, consistency with final pathological margins has not been previously evaluated. In this study, we investigated the concordance between surgical margin measurements by CT versus pathology measurements using an ex vivo sublobar lung resection model.

Deep learning-based prediction of nodal metastasis in lung cancer using endobronchial ultrasound.

Objective: Endobronchial ultrasound-guided transbronchial needle aspiration is a vital tool for mediastinal and hilar lymph node staging in patients with lung cancer. Despite its high diagnostic performance and safety, it has a limited negative predictive value. Our objective was to evaluate the diagnostic performance of deep learning-based prediction of lung cancer lymph node metastases using convolutional neural networks developed from automatically extracted images of endobronchial ultrasound videos without supervision of the lymph node location.