{"title":"Novel ABCA1 mutations in Tangier disease associated with early-onset type 2 diabetes: A case report.","authors":"Makoto Wada, Naoko Saito-Sato, Masaki Tanaka, Junko Nomoto, Aki Watanabe, Masayuki Kuroda, Yoshiro Maezawa, Tetsuta Sato, Yusuke Yagyu, Shuji Toriumi, Amika Kajiyama, Takahide Hashimoto, Naoki Ohtake, Masaya Yamaga, Tomohiko Yoshida, Shoji Tsuji, Minoru Takemoto","doi":"10.1111/jdi.70483","DOIUrl":"https://doi.org/10.1111/jdi.70483","url":null,"abstract":"<p><p>Tangier disease (TD) is a rare disorder caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene with autosomal recessive inheritance and is characterized by extremely low high-density lipoprotein cholesterol (HDL-C) and premature atherosclerosis. Although experimental studies suggest that ABCA1 plays an important role in pancreatic β-cell cholesterol homeostasis, its clinical contribution to diabetes development in humans remains unclear. We report a 69-year-old Japanese man with early-onset type 2 diabetes mellitus, profound hypo-HDL cholesterolemia (HDL-C 5 mg/dL), and severe atherosclerotic cardiovascular disease. Genetic analysis identified compound heterozygous ABCA1 variants (p.Arg104Cys and the novel p.Asp1706Tyr), both of which were predicted to be potentially pathogenic, although direct functional validation was not performed. Despite a 40-year duration of diabetes, endogenous insulin secretion was partially preserved. This case highlights phenotypic variability in TD and suggests that variant-specific effects on ABCA1 function and polygenic susceptibility may influence diabetes development in humans.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149369757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association between impaired cold perception threshold and serum calcium in patients with type 2 diabetes mellitus.","authors":"Yexuan Hao, Qiaoli Cui, Lang Qin, Wanwan Sun, Shiwei Zhou, Yuanpin Zhang, Hangping Zheng, Lijin Ji, Xiaoxia Liu, Shuo Zhang, Yanpei Cao, Yiming Li, Xiaoming Zhu","doi":"10.1111/jdi.70487","DOIUrl":"https://doi.org/10.1111/jdi.70487","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the association between serum calcium levels and cold perception threshold (CPT) in patients with type 2 diabetes mellitus.</p><p><strong>Methods: </strong>This retrospective study analyzed 334 type 2 diabetes mellitus patients from a tertiary hospital endocrinology department (March 2020-November 2024). Clinical, laboratory, and quantitative sensory testing (QST) data were collected. The correlations between serum calcium and cold/heat perception thresholds (CPT/HPT) were assessed using correlation analysis, multiple linear regression, and multivariable fractional polynomial (MFP) modeling.</p><p><strong>Results: </strong>Among the 334 enrolled patients with type 2 diabetes mellitus (146 DM only; 188 with DPN), the DPN group was older and had longer diabetes duration (both P < 0.001). Patients with DPN demonstrated significantly impaired thermal sensation, with lower CPT and higher HPT than the DM group (both P < 0.001). Serum calcium positively correlated with mean CPT in both the total cohort (r = 0.170, P = 0.001) and the DPN subgroup (r = 0.160, P = 0.028), and negatively correlated with mean HPT in the total cohort (r = -0.115, P = 0.031) and the DPN subgroup (r = -0.175, P = 0.017), but not in the DM-only group. A calcium-CPT dose-response relationship was observed.</p><p><strong>Conclusion: </strong>Serum calcium is an independent influencing factor for CPT in patients with type 2 diabetes mellitus, with a dose-response relationship observed. This finding suggested that in type 2 diabetes mellitus patients with low serum calcium levels, there should be heightened awareness of the risks of impaired cold perception and aggravated neuropathy, thereby enabling earlier risk stratification and personalized management.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149369756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Changes in liver steatosis and liver stiffness following Empagliflozin treatment in patients with MASLD and type 2 diabetes: A single-arm pre-post study.","authors":"Mobina Shieh, Davood Dalil, Alireza Arefzadeh, Maryam Shiehmorteza","doi":"10.1111/jdi.70484","DOIUrl":"10.1111/jdi.70484","url":null,"abstract":"<p><strong>Background: </strong>Metabolic dysfunction-associated steatotic liver disease (MASLD) is common in subjects with type 2 diabetes mellitus (T2DM), being linked to a higher risk for the development of liver-related and cardiovascular diseases. Sodium-glucose cotransporter 2 (SGLT2) inhibitors such as empagliflozin have demonstrated possible hepatoprotective effects in previous research. The purpose of this study was to evaluate changes in liver enzymes, hepatic steatosis, and liver stiffness following 12 weeks of empagliflozin treatment in patients with T2DM and MASLD.</p><p><strong>Methods: </strong>In this nonrandomized, single-arm interventional study, 30 patients with T2DM and MASLD were treated simultaneously with empagliflozin 25 mg/day for 12 weeks in addition to the ongoing management. Liver function tests (ALT and AST), hepatic fat content (CAP score), and liver stiffness (LSM) were assessed at baseline and after 12 weeks treatment.</p><p><strong>Results: </strong>There were significant decreases in mean AST (80.27 ± 10.51 vs. 45.20 ± 3.20 U/L, P < 0.001) and ALT (86.33 ± 9.11 vs. 44.63 ± 3.62 U/L, P < 0.001) levels after treatment. The CAP score decreased from 321.83 ± 49.36 to 261.33 ± 35.14 (P < 0.001), and the LSM value decreased from 7.22 ± 1.04 to 6.24 ± 0.41 (P < 0.001).</p><p><strong>Conclusion: </strong>In this single-arm pre-post study, 12 weeks of empagliflozin treatment was associated with significant reductions in liver enzyme levels, hepatic steatosis, and liver stiffness in patients with T2DM and MASLD. Larger controlled studies are required to determine whether these changes are attributable to empagliflozin and to assess their durability.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13726360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149316491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zehua Jin, Jianhua Ma, Yuanyang Zhao, Yi Luo, Christopher K Rayner, Tongzhi Wu, Yong Luo
{"title":"Hepatic steatosis risk in nonobese Chinese adults with type 1 diabetes.","authors":"Zehua Jin, Jianhua Ma, Yuanyang Zhao, Yi Luo, Christopher K Rayner, Tongzhi Wu, Yong Luo","doi":"10.1111/jdi.70432","DOIUrl":"10.1111/jdi.70432","url":null,"abstract":"<p><p>Metabolic dysfunction-associated steatotic liver disease (MASLD) may be an important comorbidity in nonobese Chinese adults with type 1 diabetes (T1D). We assessed the likelihood of hepatic steatosis using the hepatic steatosis index (HSI) in 47 nonobese Chinese adults with T1D (mean age 46.9 ± 14.1 years; BMI 22.6 ± 2.5 kg/m<sup>2</sup>) and examined its association with insulin requirements. Overall, 27.7% of participants had an HSI >36, indicating a high likelihood of MASLD. Compared with those with HSI <30 (low likelihood of MASLD), individuals with HSI >36 required higher bolus and total daily insulin doses, while achieving comparable glycemic profiles. These findings demonstrate that an HSI >36 is relatively common in nonobese Chinese adults with T1D and is associated with higher insulin requirements. MASLD may therefore represent an under-recognized but clinically relevant comorbidity in nonobese Chinese adults with T1D, warranting greater attention in screening and management strategies.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":"2051-2054"},"PeriodicalIF":3.0,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13539335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148878646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A pitfall in the evaluation of Sampson-estimated small dense LDL cholesterol in metabolic disorders: Is it equivalent to directly measured sdLDL-C?","authors":"Tsutomu Hirano","doi":"10.1111/jdi.70450","DOIUrl":"10.1111/jdi.70450","url":null,"abstract":"","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":"2060-2061"},"PeriodicalIF":3.0,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13592229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149011711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comment on \"Physiological phenotypes of obstructive sleep apnea identified by cluster analysis: Association with type 2 diabetes\".","authors":"Huijuan Cheng, Zhe Zhang, Feng Lu","doi":"10.1111/jdi.70425","DOIUrl":"10.1111/jdi.70425","url":null,"abstract":"","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":"2056-2057"},"PeriodicalIF":3.0,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148786263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Muhammad Mussab Aman, Andaleeb Ikram, Najib Ullah Tokhi, Muhammad Meeran Umar, Nawazish Ali
{"title":"Comment on \"Influence of Age on the Development of Stress Hyperglycemia During First-Onset ST-Elevation Myocardial Infarction\".","authors":"Muhammad Mussab Aman, Andaleeb Ikram, Najib Ullah Tokhi, Muhammad Meeran Umar, Nawazish Ali","doi":"10.1111/jdi.70443","DOIUrl":"10.1111/jdi.70443","url":null,"abstract":"","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":"2058-2059"},"PeriodicalIF":3.0,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13570370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148954565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clarifying frailty-associated factors in type 2 diabetes and coronary heart disease.","authors":"Zhe Zhang, Suhua Xu","doi":"10.1111/jdi.70418","DOIUrl":"10.1111/jdi.70418","url":null,"abstract":"","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":"2055"},"PeriodicalIF":3.0,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13455173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148700303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Underweight at age 20 and pre-pregnancy and large-for-gestational-age births in Japanese women with gestational diabetes mellitus: Hamamatsu GRACE Study 4.","authors":"Shinya Furukawa, Ayumi Kanamoto, Yukino Toyama, Kei Takeshita, Takuya Hashimoto, Teruki Miyake, Daisuke Tsuriya","doi":"10.1111/jdi.70393","DOIUrl":"10.1111/jdi.70393","url":null,"abstract":"<p><strong>Aims/introduction: </strong>While maternal obesity is a well-established risk factor for large-for-gestational-age (LGA) infants, the impact of maternal underweight on LGA in women with gestational diabetes mellitus (GDM) remains inconsistent. This issue is particularly relevant in Japan, given the high prevalence of underweight women. We investigated the association between maternal weight and body mass index (BMI) at age 20 and pre-pregnancy and the risk of LGA in Japanese women with GDM.</p><p><strong>Materials and methods: </strong>This retrospective study analyzed 537 Japanese women with GDM. Participants were categorized by BMI (underweight <18.5 kg/m<sup>2</sup>, normal, and obesity ≥25.0 kg/m<sup>2</sup>) and by weight quartiles at age 20 and pre-pregnancy. Multivariable logistic regression analyses were performed to calculate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for the association between underweight at age 20 and pre-pregnancy and LGA.</p><p><strong>Results: </strong>The prevalence of underweight at age 20, underweight pre-pregnancy, and LGA was 30.4%, 13.4%, and 9.7%, respectively. After adjustment for confounders, underweight based on BMI at age 20 (adjusted OR 0.22, 95% CI: 0.06-0.75) and pre-pregnancy (adjusted OR 0.17, 95% CI: 0.03-0.64) was significantly and inversely associated with LGA compared with obesity. Similarly, the lowest weight quartiles at both time points were independently associated with a low risk of LGA.</p><p><strong>Conclusions: </strong>Maternal underweight at age 20 and pre-pregnancy was significantly associated with a lower risk of LGA in Japanese women with GDM. These findings suggest that weight status from early adulthood may play a crucial role in fetal growth outcomes.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":"2044-2050"},"PeriodicalIF":3.0,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13500029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148786312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Noriko Kodani, Aslı Zeynep Ozdemir Saltik, Atsuhito Tone, Martin Field, Richard F Pollock, Michelle Hill, Yushi Hirota, Simona de Portu
{"title":"Cost-effectiveness analysis comparing advanced hybrid closed-loop automated insulin delivery with multiple daily insulin injections and continuous glucose monitoring in adults with type 1 diabetes in Japan.","authors":"Noriko Kodani, Aslı Zeynep Ozdemir Saltik, Atsuhito Tone, Martin Field, Richard F Pollock, Michelle Hill, Yushi Hirota, Simona de Portu","doi":"10.1111/jdi.70459","DOIUrl":"10.1111/jdi.70459","url":null,"abstract":"<p><strong>Aim: </strong>The use of automated insulin delivery systems, including the MiniMed™ 780G advanced hybrid closed-loop system, has been shown to improve glycemic management in people with type 1 diabetes (T1D). The aim was to assess the cost-effectiveness of the MiniMed 780G system versus multiple daily injections (MDI) of insulin in combination with continuous glucose monitoring (CGM) in the management of people with T1D with elevated HbA1c levels in Japan.</p><p><strong>Methods: </strong>Modeling was performed using the IQVIA Core Diabetes Model and clinical input data were sourced from a randomized controlled trial. A time horizon of 55 years, a discount rate of 2.0% per annum, and a payer perspective were used. Sensitivity analyses were used to examine the robustness of base-case results.</p><p><strong>Results: </strong>In the base-case, an incremental cost-effectiveness ratio (ICER) of JPY 4,723,991 per quality-adjusted life year (QALY) gained was found, with an incremental benefit of 2.83 quality-adjusted life years with the MiniMed 780G system versus MDI + CGM. The MiniMed 780G system was therefore cost-effective, assuming a willingness-to-pay threshold of JPY 5,000,000 per QALY. Although treatment costs were found to be JPY 16,226,167 higher for the MiniMed 780G, costs associated with managing long-term complications were lower. A probabilistic sensitivity analysis found the intervention to have a 76.9% probability of being cost-effective in Japan.</p><p><strong>Conclusion: </strong>The MiniMed 780G system was projected to be cost-effective in the management of people with T1D in Japan with HbA1c above target levels. Its use was also predicted to improve clinical outcomes when compared with MDI + CGM.</p>","PeriodicalId":190,"journal":{"name":"Journal of Diabetes Investigation","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13722974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149293508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}