Jui M. Desai1 · Lisa R. Letourneau-Freiberg1 · Kristen E. Wroblewski2 · Megan N. Scott3 · Michael E. Msall4 · Siri Atma W. Greeley1,4
Received: 27 February 2025 / Accepted: 4 October 2025 / Published online: 27 January 2026 © The Author(s) 2026
Abstract
Aims Neonatal diabetes mellitus (NDM) occurs before 6–12 months of age and is commonly caused by activating mutations in KCNJ11 (KCNJ11-NDM) or ABCC8. Because of brain expression of these mutant ATP-dependent potassium channels, a spectrum of divergent neurodevelopmental difficulties have been described, including developmental delay, epilepsy, and neonatal diabetes (DEND). However, information on anxiety, social responsiveness, and grit is limited.
Methods Individuals with KCNJ11-NDM (N= 12) and their unaffected siblings (N=12) were recruited through the Uni-versity of Chicago Monogenic Diabetes Registry and participants or their parent/caregiver completedthe Screen for Adult/ Child Anxiety Related Disorder (SCAARED/SCARED), the Social Responsiveness Scale, Second Edition (SRS-2), and the Grit Scale.
Results Mean SRS-2 scores were significantly different between KCNJ11-NDM and sibling controls (P= <0.001 ), with 7/10 affected participants, and 0 /11 siblings, having scores suggestive of autism spectrum disorder (ASD). Differences in anxiety (P=0.69) and grit (P=0.46) were not significant when compared to sibling controls; however, 58% (7/12) of KCNJ11-NDM participants and 40% (4/10) of sibling controls had scores indicating an anxiety disorder by either self- or parent-report.
Conclusions Our results agree with previous studies suggesting significant difficulties with social functioning in KCNJ11- NDM, with 7/10 participants having scores suggestive of ASD, strongly reinforcing the need for early neurodevelopmental screening to allow for prompt support. Our report adds to the knowledge of this population in finding robust grit scores but with a high level of anxiety in both KCNJ11-NDM and unaffected siblings. Although families affected by KCNJ11-NDM may have a high risk of anxiety disorders, it is encouraging that affected and unaffected children exhibit robust self-resiliency that will help support functioning through the challenges of life. Study of additional individuals will help to clarify specific challenges, long-term outcomes, and best approaches for monitoring and support.
Keywords Diabetes mellitus · Potassium channels · Brain · Anxiety · Resilience · Genetics
Daniel Norman1 · Joey Lau1
Received: 22 March 2025 / Accepted: 18 January 2026 © The Author(s) 2026
Background Laser capture microdissection (LCM) followed by RNA-sequencing is a powerful, widely applicable tool to analyze the transcriptome in regions of a tissue. Protocols for LCM of transplanted islets of Langerhans, particularly stem cell-derived islets (SC-islets) that have evaluated RNA quality, are lacking. This study demonstrates a robust protocol for LCM of SC-islets in multiple organ sites, generating high quality RNA.
Method SC-islets were transplanted to five organ sites in immunodeficient NOG-mice. Graft-containing organs were then sectioned, fixed in 75% ethanol, stained with the alcohol-based stain cresyl violet, and dehydrated before performing LCM. RNA was then extracted, and quality control was performed.
Results High RIN scores (RNA Integrity Number) were obtained from all organ sites, with the pancreas showing the most robust results, despite its known challenges due to high RNase content. Conversely, organs with small or dispersed grafts, such as the liver and omentum, exhibited lower RIN scores. This is likely due to the size of the dissected area correlating positively with RIN scores, potentially due to a more time-consuming LCM in these sites.
Conclusion Using this novel protocol, high-quality RNA from transplanted SC-islets can be obtained. Smaller and spread-out grafts pose a challenge in obtaining higher quality RNA, although possible.
Keywords Laser capture microdissection · Stem cell-derived islets · RNA quality · Transplantation · Type 1 diabetes
伤口世界平台生态圈，以“关爱人间所有伤口患者”为愿景，连接、整合和拓展线上和线下的管理慢性伤口的资源，倡导远程、就近和居家管理慢性伤口，解决伤口专家的碎片化时间的价值创造、诊疗经验的裂变复制、和患者的就近、居家和低成本管理慢性伤口的问题。
2019广东省医疗行业协会伤口管理分会年会
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