Beyond the face: An interdisciplinary evaluation of satisfaction with appearance in young people with orofacial clefts.

Orofacial clefts are the most common congenital anomaly of the face, and they significantly affect appearance. The combined effects of demographics, psychology, neurophysiology, and cleft characteristics to explain satisfaction with appearance in young people with a cleft have not yet been comprehensively studied in an interdisciplinary manner. We found that interpersonal difficulties, age, and conscientiousness were significant explanatory factors for satisfaction with appearance (t = -3.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.

Integrating EEG and Machine Learning to Analyze Brain Changes during the Rehabilitation of Broca's Aphasia.

The fusion of electroencephalography (EEG) with machine learning is transforming rehabilitation. Our study introduces a neural network model proficient in distinguishing pre- and post-rehabilitation states in patients with Broca's aphasia, based on brain connectivity metrics derived from EEG recordings during verbal and spatial working memory tasks. The Granger causality (GC), phase-locking value (PLV), weighted phase-lag index (wPLI), mutual information (MI), and complex Pearson correlation coefficient (CPCC) across the delta, theta, and low- and high-gamma bands were used (excluding GC, which spanned the entire frequency spectrum).

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.

Purpose: To determine the disease pathogenesis associated with the frequent ABCA4 variant c.5714+5G>A (p.[=,Glu1863Leufs*33]).

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study.

Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last exams, age at onset, Snellen decimal visual acuity (VA), electroretinography (ERG), and FAF images were evaluated.