Background: Thermal damage may lead to inflammation of the peeled mucosal surface during endoscopic submucosal dissection (ESD).
Aim: To determine the effect of Joule heat on the onset of post-ESD electrocoagulation syndrome (PECS).
Methods: In this prospective study, PECS was characterized by in-hospital fever (white blood cell count: ≥ 10000 μ/L or body temperature ≥ 37.
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.