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Risk of congenital malformation in newborns from mothers with kidney diseases in a nationwide cohort study

2026-01-31T15:00:00Z

Title: Risk of congenital malformation in newborns from mothers with kidney diseases in a nationwide cohort study Author(s): Han, Seung Hyun; Kim, Zio; Jeong, Subin; Kim, Seungyeon; Song, Jeongin; Lee, Jeesun; Park, Sehoon; Lim, Min Hyuk; Park, Joong Shin; Yoon, Hyung-Jin; Lee, Seung Mi; Lee, Hajeong Abstract: Background: Maternal chronic kidney disease (CKD) is associated with an increased risk of adverse pregnancy outcomes. However, the overall risk of congenital malformations (CMs) in offspring of mothers with kidney disease, including CKD and end-stage kidney disease (ESKD), remains unclear. Methods: In this nationwide cohort study, we analyzed National Health Insurance Service (NHIS) data from 2,680,092 women who gave birth between 2008 and 2017. Major CMs were identified using the International Classification of Diseases-10 (ICD-10) codes during the first 12 months after birth. A multivariable generalized estimating equation model was used to compare the risk of CMs between women with CKD or ESKD, including those on dialysis and post-kidney transplantation (KT), and healthy controls. Results: Major CMs prevalence is 4.79% in offspring of healthy mothers, 5.29% in CKD mothers, and 9.65% in ESKD mothers, with congenital heart defects being the most common anomaly across all groups. After adjustment, mothers with kidney diseases show a higher risk of major CMs than healthy controls (adjusted odds ratio [aOR], 1.07; 95% confidence interval [CI], 1.03–1.11 in CKD; aOR, 1.71; 95% CI, 1.16–2.52 in ESKD, respectively). Among ESKD patients, KT recipients show an increased risk (aOR, 1.65; 95% CI, 1.06–2.59), but dialysis patients do not reach statistical significance (aOR, 2.02; 95% CI, 0.92–4.41). Conclusions: Our findings suggest that neonates born to mothers with kidney diseases have an increased risk of CMs compared to those born to healthy mothers. © The Author(s) 2026.

Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus

2020-01-31T15:00:00Z

Title: Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus Author(s): Saito Ryo; Koebis Michinori; Nagai Taku; Shimizu Kimiko; Liao Jingzhu; Wulaer Bolati; Sugaya Yuki; Nagahama, Kenichiro; Uesaka Naofumi; Kushima Itaru; Mori Daisuke; Maruyama Kazuaki; Nakao Kazuki; Kurihara Hiroki; Yamada Kiyofumi; Kano Masanobu; Fukada Yoshitaka; Ozaki Norio; Aiba Atsu Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is associated with an increased risk for psychiatric disorders. Although most of the 22q11.2DS patients have a 3.0-Mb deletion, existing mouse models only mimic a minor mutation of 22q11.2DS, a 1.5-Mb deletion. The role of the genes existing outside the 1.5-Mb deletion in psychiatric symptoms of 22q11.2DS is unclear. In this study, we generated a mouse model that reproduced the 3.0-Mb deletion of the 22q11.2DS (Del(3.0Mb)/+) using the CRISPR/Cas9 system. Ethological and physiological phenotypes of adult male mutants were comprehensively evaluated by visual-evoked potentials, circadian behavioral rhythm, and a series of behavioral tests, such as measurement of locomotor activity, prepulse inhibition, fear-conditioning memory, and visual discrimination learning. As a result, Del(3.0Mb)/+mice showed reduction of auditory prepulse inhibition and attenuated cue-dependent fear memory, which is consistent with the phenotypes of existing 22q11.2DS models. In addition, Del(3.0Mb)/+mice displayed an impaired early visual processing that is commonly seen in patients with schizophrenia. Meanwhile, unlike the existing models, Del(3.0Mb)/+mice exhibited hypoactivity over several behavioral tests, possibly reflecting the fatigability of 22q11.2DS patients. Lastly, Del(3.0Mb)/+mice displayed a faster adaptation to experimental jet lag as compared with wild-type mice. Our results support the validity of Del(3.0Mb)/+mice as a schizophrenia animal model and suggest that our mouse model is a useful resource to understand pathogenic mechanisms of schizophrenia and other psychiatric disorders associated with 22q11.2DS.

Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus

2020-01-31T15:00:00Z

Title: Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus Author(s): Saito, Ryo; Koebis, Michinori; Nagai, Taku; Shimizu, Kimiko; Liao, Jingzhu; Wulaer, Bolati; Sugaya, Yuki; Nagahama, Kenichiro; Uesaka, Naofumi; Kushima, Itaru; Mori, Daisuke; Maruyama, Kazuaki; Nakao, Kazuki; Kurihara, Hiroki; Yamada, Kiyofumi; Kano, Masanobu; Fukada, Yoshitaka; Ozaki, Norio; Aiba, Atsu Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is associated with an increased risk for psychiatric disorders. Although most of the 22q11.2DS patients have a 3.0-Mb deletion, existing mouse models only mimic a minor mutation of 22q11.2DS, a 1.5-Mb deletion. The role of the genes existing outside the 1.5-Mb deletion in psychiatric symptoms of 22q11.2DS is unclear. In this study, we generated a mouse model that reproduced the 3.0-Mb deletion of the 22q11.2DS (Del(3.0Mb)/+) using the CRISPR/Cas9 system. Ethological and physiological phenotypes of adult male mutants were comprehensively evaluated by visual-evoked potentials, circadian behavioral rhythm, and a series of behavioral tests, such as measurement of locomotor activity, prepulse inhibition, fear-conditioning memory, and visual discrimination learning. As a result, Del(3.0Mb)/+mice showed reduction of auditory prepulse inhibition and attenuated cue-dependent fear memory, which is consistent with the phenotypes of existing 22q11.2DS models. In addition, Del(3.0Mb)/+mice displayed an impaired early visual processing that is commonly seen in patients with schizophrenia. Meanwhile, unlike the existing models, Del(3.0Mb)/+mice exhibited hypoactivity over several behavioral tests, possibly reflecting the fatigability of 22q11.2DS patients. Lastly, Del(3.0Mb)/+mice displayed a faster adaptation to experimental jet lag as compared with wild-type mice. Our results support the validity of Del(3.0Mb)/+mice as a schizophrenia animal model and suggest that our mouse model is a useful resource to understand pathogenic mechanisms of schizophrenia and other psychiatric disorders associated with 22q11.2DS.

Exploring Predictors of Counselors' Acceptance of Virtual Reality Exposure Therapy With Resistance and Job Contexts as Moderators: Cross-Sectional Mixed Methods Study

2025-11-30T15:00:00Z

Title: Exploring Predictors of Counselors' Acceptance of Virtual Reality Exposure Therapy With Resistance and Job Contexts as Moderators: Cross-Sectional Mixed Methods Study Author(s): Kim, Myungsung; Jeon, Min; Lee, Yerin; Lee, Sangil; Kim, Hwang; Jung, Dooyoung Abstract: Background: Exposure therapy effectively treats anxiety disorders but faces implementation barriers, including cost, time constraints, and reluctance from therapists and clients. Virtual reality exposure therapy (VRET) offers a controlled digital alternative addressing these issues. However, adoption remains limited, with previous studies focusing mainly on hospital settings without considering individual or workplace factors. Objective: This study examined factors affecting counselors' VRET acceptance across diverse settings. We used the Unified Theory of Acceptance and Use of Technology (UTAUT) extended with job stress and resistance to change. Open-ended questions provided a deeper understanding of counselors' perspectives on VRET. Methods: A cross-sectional mixed methods study was conducted with 258 certified counselors across various settings, including universities, public institutions, and private clinics. Participants watched a 4-minute VRET introduction video and completed a survey measuring UTAUT variables (performance expectancy, effort expectancy, facilitating conditions, and social influence), resistance to change, and job stress. Stepwise forward selection multiple linear regression with moderation analyses was conducted to identify key predictors and test interaction effects. Open-ended responses (N=257, 290 meaning units) on VRET applicability and improvement suggestions were analyzed using team-based thematic analysis with iterative consensus coding. Results: Performance expectancy (β=.404, 95% CI 0.297-0.512, P<.001) and social influence (β=.387, 95% CI 0.280-0.494, P<.001) significantly predicted VRET adoption intentions (R2=0.494). Moderation analysis revealed that routine seeking weakened performance expectancy impact (β=-.160, 95% CI -0.277 to -0.043, P<.01), low job control strengthened it (β=.162, 95% CI 0.280-0.494, P<.005), and high job demands reduced social influence effects (β=-.150, 95% CI -0.263 to -0.036, P=.01). The narrow confidence intervals indicate precise estimation of these moderation effects. Younger counselors were more sensitive to contextual moderators, while older counselors prioritized performance expectancy. Thematic analysis identified 3 themes: counselor evaluation criteria for VRET, emphasizing content diversity and scientific validation; considerations for promoting and introducing VRET to counselors, addressing implementation challenges; and areas requiring continuous improvement for VRET field implementation, emphasizing professional competence and system reliability. Conclusions: This study advances VRET acceptance research by examining certified counselors across diverse nonhospital settings-unlike prior hospital-focused physician studies-and extending UTAUT with profession-specific moderators. Performance expectancy and social influence emerged as primary predictors, with routine seeking and job context significantly moderating these effects across age groups. Thematic analysis revealed that counselors evaluate VRET as a supplementary tool requiring scientific validation, diverse content, and structured training rather than technological usability alone. Findings inform practical strategies as follows: disseminating effectiveness evidence, leveraging professional networks, addressing work environment barriers for high-demand contexts, and developing age-appropriate approaches. Insights guide content developers, policymakers, and researchers implementing VRET beyond hospital settings. © Myungsung Kim, Min Jeon, Yerin Lee, Sangil Lee, Hwang Kim, Dooyoung Jung. Originally published in the Journal of Medical Internet Research (https://www.jmir.org).