A homozygous structural variant of is frequently associated with achromatopsia in Japanese patients with IRD.

Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (, , , and ) and by , a transcription factor with ubiquitous expression. To improve the relatively low variant detection ratio in these genes in a cohort of exome-sequenced Japanese patients with inherited retinal diseases (IRD), we performed genome sequencing to detect structural variants and intronic variants in patients with ACHM.

Methods: Genome sequencing of 10 ACHM pedigrees was performed after exome sequencing.

Machine Learning-Based Prediction for In-Hospital Mortality After Acute Intracerebral Hemorrhage Using Real-World Clinical and Image Data.

Background: Machine learning (ML) techniques are widely employed across various domains to achieve accurate predictions. This study assessed the effectiveness of ML in predicting early mortality risk among patients with acute intracerebral hemorrhage (ICH) in real-world settings.

Methods And Results: ML-based models were developed to predict in-hospital mortality in 527 patients with ICH using raw brain imaging data from brain computed tomography and clinical data.

Fluorous and Organic Extraction Systems: A Comparison from the Perspectives of Coordination Structures, Interfaces, and Bulk Extraction Phases.

Microscopic structures in liquid-liquid extraction, such as structuration between extractants or extracted complexes in bulk organic phases and at interfaces, can influence macroscopic phenomena, such as the distribution behavior of solutes, including extraction efficiency and selectivity. In this study, we correlated the macroscopic behavior of the Zr(IV) extraction from nitric acid solutions with microscopic structural information to understand at the molecular level the key factors contributing to the higher metal ion extraction performance in the fluorous extraction system as compared to the analogous organic extraction system. The fluorous and organic extraction systems consist of tris(4,4,5,5,6,6,7,7,7-nonafluoroheptyl) phosphate (TFP) in perfluorohexane and tri--heptyl phosphate (THP) in -hexane, respectively.