Masatoshi Yamaguchi

This study evaluated the association between first‐trimester ultrasound abnormalities and prenatal test selection within a centralized genetic counseling system in Japan. Advances in ultrasound screening and the increasing use of non‐invasive prenatal testing (NIPT) have expanded prenatal testing options, increasing the complexity of test selection in pregnancies with abnormal ultrasound findings. This retrospective cohort study included 87 pregnant women referred for genetic counseling because of abnormal first‐trimester ultrasound findings between July 2022 and December 2025. All patients received standardized prenatal genetic counseling. Clinical data were extracted from the medical records, and factors associated with the selection of invasive diagnostic testing were analyzed using multivariable logistic regression. Amniocentesis was selected in 41 pregnancies (47.1%), NIPT in 28 (32.2%), and no chromosomal testing in 18 (20.7%). Chromosomal abnormalities were identified in 15 of 41 pregnancies (36.6%) undergoing amniocentesis. Cystic hygroma was independently associated with the selection of invasive diagnostic testing (odds ratio [OR] 3.10, 95% confidence interval [CI] 1.09–9.15), whereas increased nuchal translucency was negatively associated (OR 0.35, 95% CI 0.13–0.90). These findings suggest that the type of first‐trimester ultrasound abnormality is associated with prenatal test selection. Our results highlight the importance of individualized genetic counseling when discussing prenatal testing options and residual uncertainty following abnormal ultrasound findings.

Tricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the SKIC3 or SKIC2 gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease. Here we report a neonatal case of THES with neonatal hemochromatosis, in which the novel compound heterozygous SKIC3 variants NM_014639.4:c.815_816del p.(Gly272AlafsTer9) and NM_014639.4:c.2284G>A p.(Gly762Arg) were identified. Further research is needed to elucidate the mechanisms underlying iron metabolism dysregulation in THES.

Aim: To evaluate Hyuganatsu oranges (Citrus tamurana Hort. Ex Tanaka) derived arabinogalactan for bone turnover, we performed a randomized placebo‐controlled trial.Methods: Sixty‐three postmenopausal women were age‐stratified and randomly assigned to receive arabinogalactan‐rich hyuganatsu juice (study group) or a placebo drink (control group) for 90 days. We measured blood tartrate‐resistant acid phosphatase 5b (TRACP5b), type I procollagen N‐terminal propeptide (P1NP), and other bone turnover biomarker levels at baseline, days 45 and 90 (T90) of the intervention, and day 30 of recovery. Cumulative effects were compared between groups using repeated‐measures linear mixed model analysis. The primary endpoint was the difference between the pre‐ and post‐intervention TRACP5b and P1NP levels.Results: Using repeated measures linear mixed model analysis, the study group had significantly lower TRACP5b and P1NP levels at day 90 than the control group (mean [95% confidence interval]; TRACP5b: 310.0 [269.2–350.9] vs. 386.4 [341.2–431.6] mU/dL; P1NP: 53.7 [48.6–58.7] vs. 70.3 [64.1–76.4] ng/mL), whereas other biomarker levels showed no change.Conclusion: Arabinogalactan‐rich Hyuganatsu juice suppressed bone mineral turnover and potentially improved ovarian hormone deficiency‐induced osteoporosis in postmenopausal women.

The usefulness of comprehensive genomic profiling (CGP) in the Japanese healthcare insurance system remains underexplored. Therefore, this large-scale study aimed to determine the usefulness of CGP in diagnosing digestive cancers. Patients with various cancer types recruited between March 2020 and October 2022 underwent the FoundationOne^® CDx assay at the Keio PleSSision Group (19 hospitals in Japan). A scoring system was developed to identify potentially actionable genomic alterations of biological significance and actionable genomic alterations. The detection rates for potentially actionable genomic alterations, actionable genomic alterations, and alterations equivalent to companion diagnosis (CDx), as well as the signaling pathways associated with these alterations in each digestive cancer, were analyzed. Among the 1587 patients, 547 had digestive cancer. The detection rates of potentially actionable genomic alterations, actionable genomic alterations, and alterations equivalent to CDx were 99.5%, 62.5%, and 11.5%, respectively. APC, KRAS, and CDKN2A alterations were frequently observed in colorectal, pancreatic, and biliary cancers, respectively. Most digestive cancers, except esophageal cancer, were adenocarcinomas. Thus, the classification flowchart for digestive adenocarcinomas proposed in this study may facilitate precise diagnosis. CGP has clinical and diagnostic utility in digestive cancers.

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones. In this case report, we describe a patient who suffered from OI type XIV with a novel splice site variant in the TMEM38B gene. Further research is needed to better understand the relationship between the phenotype of OI type XIV and this variant.