Triple mosaic variants of PURA in a patient with multiple congenital anomalies.

In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of triple mosaic variants in PURA, a gene responsible for a neurodevelopmental syndrome (OMIM# 616158). Whole-exome sequencing identified three somatic PURA variants in our case with a similar neurodevelopmental syndrome: NM_005859.

Holter electrocardiography findings in Fukuyama congenital muscular dystrophy.

Fukuyama congenital muscular dystrophy (FCMD) is the second most common childhood-onset muscular dystrophy in Japan. However, only a few comprehensive studies have investigated cardiac complications associated with FCMD, with none on arrhythmias. The present study evaluated 78 Holter electrocardiograms from 15 patients with FCMD.

Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a severe muscle disorder caused by mutations in the DMD gene, leading to dystrophin deficiency. Antisense oligonucleotide (ASO)-mediated exon skipping offers potential by partially restoring dystrophin, though current therapies remain mutation specific with limited efficacy. To overcome those limitations, we developed brogidirsen, a dual-targeting ASO composed of two directly connected 12-mer sequences targeting exon 44 using phosphorodiamidate morpholino oligomers.

Association between allergic diseases and mucosal healing in ulcerative colitis.

Allergic diseases and ulcerative colitis (UC) share pathophysiological similarities. This study aimed to investigate the unclear association between allergic diseases and mucosal healing (MH), an important factor in the prognosis of UC. We studied 289 Japanese patients with UC.

Exercise Habits, Including Exercising With Partners, and the Prevalence of Self-Reported Constipation in Young Japanese People: A Cross-Sectional Study.

Background: Constipation is a very common medical issue among the general population worldwide. However, the association between exercise habits and constipation is still not fully understood. Additionally, no evidence regarding the association between exercise partners and constipation exists.