Niigata University Medical and Dental Hospital
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日本人2型糖尿病患者におけるエンパグリフロジン投与開始後の栄養素等および菓子類などの食品群の摂取量の変化:探索的研
新潟大学Niigata University博士(医学)新大院博(医)第1249
急性肺塞栓症患者における治療前のCT所見と治療後の肺灌流血液量の持続的低下との関連性
新潟大学Niigata University博士(医学)The purpose of this study was to evaluate pre-treatment CT findings in patients with acute pulmonary embolism (PE) and determine the imaging findings associated with residual hypoperfused segments in post-treatment lung perfused blood volume (LPBV). We evaluated 91 patients with acute PE who underwent dual-energy CT before and after treatment. The location of thrombi (proximal or distal) and patency of the pulmonary artery (occlusive or non-occlusive) were recorded using pre-treatment computed tomography pulmonary angiography (CTPA). Residual hypoperfusion was defined as a perfusion-decreased area seen in both the pre- and post-treatment LPBVs. The association of the location of the thrombus and vascular patency of pre-treatment CTPA with residual hypoperfusion on a segmental and patient basis was examined. In the segment-based analysis, the proportion of residual hypoperfusion in the proximal group was significantly higher than that in the peripheral group (33/125 [26.4%] vs. 9/87 [10.3%], P = 0.004). Patient-based analysis also showed that the proportion of residual hypoperfusion in patients with pre-treatment proximal thrombus was significantly higher than those without (16/42 [38.1%] vs. 3/25 (12.0%); P = 0.022). Pre-treatment vascular patency was not significantly associated with residual hypoperfusion (P > 0.05). Therefore, careful follow-up is necessary, especially in patients with proximal thrombi.Hirata T, Yoshimura N, Yagi T, Yamazaki M, Horii Y, Ishikawa H. Association between pre-treatment computed tomography findings and post-treatment persistent decrease in lung perfusion blood volume. Sci Rep. 2024 May 24;14(1):11919. doi: 10.1038/s41598-024-62890-7.新大院博(医)第1251
変異シグネチャーシミュレーションによるターゲットシークエンスの可能性検証
新潟大学博士(医学)Kodama K, Ling Y, Ichikawa H, Wakai T, Okuda S (2025) Evaluation of potential of targeted sequencing through mutational signature simulation. PLOS ONE 20(6): e0326071. https://doi.org/10.1371/journal.pone.0326071新大院博(医)第1269
日本人集団における自閉スペクトラム症と稀なCNTN5変異との関連解析
新潟大学博士(医学)Background
Contactin-5 (CNTN5), a neural adhesion molecule involved in synaptogenesis and synaptic maturation in the auditory pathway, has been associated with the pathophysiology of autism spectrum disorder (ASD), particularly hyperacusis. To investigate the role of rare CNTN5 variants in ASD susceptibility, we performed resequencing and association analysis in a Japanese population.
Methods
We resequenced the CNTN5 coding regions in 302 patients with ASD and prioritized rare putatively damaging variants. The prioritized variants were then genotyped in 313 patients with ASD and 1065 controls. Subsequently, we conducted an association study of selected variants with ASD in 614 patients with ASD and 61 057 controls. Clinical data were reviewed for patients carrying prioritized variants.
Results
Through resequencing, we prioritized three rare putatively damaging missense variants (W69G, I227L, and L1000S) in patients with ASD. Although we found a nominally significant association between the I227L variant and ASD, it did not remain significant after post hoc correction. Hyperacusis was found in three out of nine patients carrying prioritized variants.
Conclusion
This study does not provide evidence for the contribution of rare CNTN5 variants to the genetic etiology of ASD in the Japanese population.Hadi, A.F., Arta, R.K., Kushima, I., Egawa, J., Watanabe, Y., Ozaki, N. and Someya, T. (2025), Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population. Neuropsychopharmacol Rep, 45: e12527. https://doi.org/10.1002/npr2.12527新大院博(医)第1275