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 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 computed tomography 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.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.