Acta Diabetologica[JOURNAL]
Sun
200 papers
A metagenomic study of the gut microbiome in patients with type 2 diabetes mellitus and myocardial infarction.
Zhang H, Zhai C, Hu H … +2 more , Qian G, Mao M
Acta Diabetol · 2026 May · PMID 41661278 · Full text
OBJECTIVE: This study aimed to investigate gut microbiota composition and metabolic functions in patients with type 2 diabetes mellitus (DM) complicated by myocardial infarction (MI) and to explore potential mechanisms l...
OBJECTIVE: This study aimed to investigate gut microbiota composition and metabolic functions in patients with type 2 diabetes mellitus (DM) complicated by myocardial infarction (MI) and to explore potential mechanisms linking the gut microbiome to MI development. METHODS: Sixty patients with DM complicated by MI and 52 patients with DM alone were initially recruited. After quality control, 29 DM + MI patients and 33 DM patients were included in the final analysis. Gut microbial profiles were characterized using shotgun metagenomic sequencing and bioinformatics analyses. Microbial diversity, composition, and gene functions were compared between groups based on KEGG, COG, and CAZy annotations. RESULTS: Overall microbial diversity and metabolic profiles were comparable between the two groups; however, significant differences were observed in specific taxa and functional genes. Taxa enriched in the DM + MI group included Bacteroidales, Prevotellaceae, and Lachnospiraceae. In total, 510 KEGG orthology (KO) units and 21 pathways-including ABC transporters, quorum sensing, and general metabolic pathways-differed significantly between groups. Carbohydrate transport and metabolism, as well as glycoside hydrolase activity, represented the most enriched functional categories. Random forest models based on selected microbial species, KO units, and KEGG pathways achieved areas under the curve (AUCs) of 0.868, 0.885, and 0.820, respectively. CONCLUSION: Patients with DM complicated by MI exhibit distinct gut microbial compositions and functional gene signatures compared with patients with DM alone. These microbiome-based markers may contribute to early risk stratification and provide potential targets for microbiota-focused interventions to mitigate MI risk in patients with diabetes.
Methodological considerations in geriatric type 1 diabetes research.
Ru W, Zheng L, Feng L … +2 more , Liang H, Hu H
Acta Diabetol · 2026 Apr · PMID 41661277 · Publisher ↗
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A high-quality RNA-yielding protocol for laser capture microdissection of transplanted stem cell-derived Islets of Langerhans.
Norman D, Lau J
Acta Diabetol · 2026 May · PMID 41661276 · Full text
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...
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.
Study of oral microbiome by next generation sequencing in T1DM adolescents with periodontal disease.
Chakraborty P, Basu M, Mukhopadhyay P … +2 more , Chowdhury R, Ghosh S
Acta Diabetol · 2026 May · PMID 41661275 · Publisher ↗
BACKGROUND: Periodontal disease (PD) is common in type 1 diabetes mellitus (T1DM); however, studies related to oral microbiome in PD in type 1 diabetes is limited. METHODS: In this cross-sectional study,60 participants w...
BACKGROUND: Periodontal disease (PD) is common in type 1 diabetes mellitus (T1DM); however, studies related to oral microbiome in PD in type 1 diabetes is limited. METHODS: In this cross-sectional study,60 participants were enrolled in three groups. T1DM with PD (DMPD, n = 20), T1DM without periodontal disease (DM, n = 20)), and siblings without diabetes but with PD (PD, n = 20)). All the participants underwent comprehensive periodontal examination. Gingival plaque samples were collected for DNA isolation and next-generation sequencing to quantify microbiological abundance. RESULTS: In total, 3294 operational taxonomic units were identified and analysed. Significant difference was observed across the groups, notably Prevotella, Megasphaera, Dialister, and Camphylobacter, Aggregatibacter, and Corynebacterium showed difference in abundance. Prevotella was found to have a very high and statistically significant abundance in DMPD. Prevotella, Veillonella, and Selenomonas were significantly higher in the poorly controlled glycemic group. Subjects with severe Gingival Index (GI) exhibit higher abundance of Capnocytophaga, Neisseria and Rothia compared to those with non-severe GI. CONCLUSION: The Oral microbiome composition of individuals with T1DM varied significantly in the presence of periodontal disease. The oral microbiome also varies according to glycemic status of T1DM and severity of PD. The markedly increased abundance of certain phyla and genera in subjects with PD and diabetes suggests a role for the relevant microbiota in the development of periodontal infection in T1DM subjects.
Elevated body mass index amplifies inflammation-linked diastolic dysfunction independent of diabetes: a two-year prospective study.
Fousteris E, Arvanitakis K, Koufakis T … +4 more , Theodosis-Georgilas A, Matsagos S, Patsourakos N, Melidonis A
Acta Diabetol · 2026 Mar · PMID 41661274 · Publisher ↗
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Metformin exhibits gender specific impact on telomere dynamics by enhancing RAP1 expression in type-2 diabetes mellitus.
Jain M, Madeka S, Khattar E
Acta Diabetol · 2026 Apr · PMID 41661273 · Publisher ↗
Telomere length serves as a critical biomarker of ageing, and diabetes is associated with shorter telomeres. This study aims to investigate the association and underlying molecular mechanism between telomere attrition ra...
Telomere length serves as a critical biomarker of ageing, and diabetes is associated with shorter telomeres. This study aims to investigate the association and underlying molecular mechanism between telomere attrition rate in healthy individuals and patients with type 2 diabetes who consume the anti-diabetic drug metformin. Leukocyte telomere length was measured using the telomere restriction fragment assay in 111 healthy individuals and in 73 individuals with type 2 diabetes who were consuming metformin. Telomere length-regulating mRNA and protein expression studies were performed. The BJ fibroblast cell line was treated with different concentrations of metformin, and telomere length analysis, gene expression and chromatin immunoprecipitation (ChIP) were performed. Compared to healthy volunteers, telomere attrition was markedly reduced in diabetic patients who were on metformin. Diabetic females, in particular, showed an increase in telomere length, while males showed a reduction in the telomere attrition rate. In the BJ fibroblasts, metformin slowed telomere attrition in a dose-dependent manner. Molecular studies revealed that metformin treatment resulted in increased expression of telomeric protein RAP1 via enhanced PGC1α-dependent Foxo3a recruitment to the RAP1 promoter. Metformin is associated with decreased telomere attrition and increased telomeric protein RAP1 expression in both diabetic patients and in the fibroblast model. The effect is particularly significant in females. To our knowledge, this is the first study to identify a PGC-1α-FOXO3a-RAP1 signaling axis linking metformin exposure to telomere protection in human diabetic cohorts and to mechanistically validate this pathway using a fibroblast model.
Effect of metformin dose reduction versus continuation at imeglimin initiation on glycemic control in type 2 diabetes: a retrospective real-world analysis.
Fushimi Y, Kimura T, Sanada J … +10 more , Ito T, Kubo M, Dan K, Okamoto Y, Iwamoto H, Iwamoto Y, Shimoda M, Nakanishi S, Kaku K, Kaneto H
Acta Diabetol · 2026 Apr · PMID 41661272 · Publisher ↗
AIMS: To evaluate whether continuing versus reducing metformin at imeglimin initiation is associated with 24-week changes in HbA1c and body weight in routine practice, and to describe 48-week outcomes. METHODS: Single-ce...
AIMS: To evaluate whether continuing versus reducing metformin at imeglimin initiation is associated with 24-week changes in HbA1c and body weight in routine practice, and to describe 48-week outcomes. METHODS: Single-center retrospective study of adults with type 2 diabetes who started imeglimin 2000 mg/day (September 2022-August 2024). For the primary 24-week efficacy analysis, metformin users who tolerated and continued imeglimin through week 24 were classified as metformin continuation (no change) or metformin reduction (≥ 250 mg/day decrease, including discontinuation). The primary endpoint was 24-week ΔHbA1c. Associations were assessed with nonparametric tests and ANCOVA adjusting for age, sex, diabetes duration, and baseline HbA1c; sensitivity models additionally adjusted for baseline metformin dose and major concomitant glucose-lowering drug classes (SGLT2i, GLP-1RA, insulin, and sulfonylureas). RESULTS: Seventy metformin users were included (continuation n = 34; reduction n = 36). At 24 weeks, HbA1c decreased by - 0.6% versus - 0.2% (median difference - 0.5%, 95% CI - 0.6 to - 0.3), and body weight by - 1.2 kg versus - 0.4 kg (median difference - 0.9 kg). The absolute metformin dose reduction correlated with ΔHbA1c (Spearman ρ = 0.52). Metformin continuation remained associated with greater adjusted HbA1c reduction in sensitivity ANCOVA (adjusted difference - 0.57%, 95% CI - 0.88 to - 0.26; P = 0.0006). In a 48-week cohort (n = 65) continuing imeglimin, metformin dose reduction remained associated with ΔHbA1c in multivariable analysis. CONCLUSIONS: Continuing metformin at imeglimin initiation was associated with greater improvements in HbA1c and body weight than dose reduction. Findings are associative and may reflect residual confounding.
The organization of diabetic foot care in a regional public health service: baseline data from the diabetic foot valley Tuscany project.
Piaggesi A, Giangreco F, Barbagallo S … +3 more , Amato E, Di Cianni G, Diabetic Foot Valley Tuscany Working Group
Acta Diabetol · 2026 Apr · PMID 41636857 · Publisher ↗
AIM: Diabetic foot care is a core component of diabetology, yet the organisation of services in routine practice remains poorly characterised. We delivered a survey among the public diabetology centres (PDC) of Tuscany t...
AIM: Diabetic foot care is a core component of diabetology, yet the organisation of services in routine practice remains poorly characterised. We delivered a survey among the public diabetology centres (PDC) of Tuscany to get updated information on the DF-related activities of the PDC and their organization. METHODS: We administered an online structured questionnaire to the clinical leads of all 15 public diabetology centres in the region, exploring their organization around DF care. RESULTS: All the 15 PDC participated to the survey. Altogether they staffed 43 physicians, 37 nurses and 16 podiatrists; The frequency of diabetic-foot care provision varied across centres from once a week (2/15, 13.3%) to more than 1 day per week (5/15, 33.3%) to daily (7/15, 46.7%) The number of staff dedicated to DF Care was 63% of the total (61/97). DFU care was delivered by all the centres, while revascularization was available in 9/15 (60%). No difference emerged between the three large areas in which the Region is divided. The most frequently reported critical issues were organizational ones. CONCLUSIONS: DF care is an important part of the clinical activities delivered by the PDC and absorbs a significant number of resources, but is not adequately supported, nor in terms of resource allocation neither from an organizational and professional point of view.
Periodontitis and diabetes: a bidirectional link.
Nguyen TT, Bandeira M, Giannopoulou C … +3 more , Zekeridou A, Ryu D, Gariani K
Acta Diabetol · 2026 Feb · PMID 41627402 · Publisher ↗
Periodontitis is a chronic inflammatory disease affecting the tooth-supporting structures, and its closely linked to diabetes mellitus through a well-established bidirectional relationship. Diabetes exacerbates periodont...
Periodontitis is a chronic inflammatory disease affecting the tooth-supporting structures, and its closely linked to diabetes mellitus through a well-established bidirectional relationship. Diabetes exacerbates periodontal destruction via systemic inflammation, oxidative stress, and immune dysfunction, while periodontitis can impair glycemic control by increasing systemic inflammatory burden. The pathogenesis of periodontitis remains only partially understood, involving microbial dysbiosis, host immune responses, and metabolic disturbances. The 2018 classification system defines stages and grades based on disease severity and progression risk. Epidemiological data reveal a high global prevalence, particularly among individuals with type 2 diabetes. Studies have shown that periodontal therapy contributes to improved glycemic control and may reduce cardiovascular risk. Despite its clinical significance, periodontitis remains underdiagnosed in the context of diabetic care. Effective management requires integrated medical and dental collaboration, targeting both glycemic regulation and periodontal health. This dual approach offers mutual benefits for reducing complications and improving long-term outcomes in diabetic patients. In this review, we present the current knowledge on the relationship between diabetes and periodontitis, focusing on epidemiology, pathogenesis, and management.
One year after gestational diabetes: metabolic changes and predictors of postpartum dysglycaemia.
Gaglio A, Pigotskaya Y, Rossi G … +8 more , Mirani M, Giacchetti F, Grancini V, Maggi V, Mantovani G, Cetin I, Orsi E, Resi V
Acta Diabetol · 2026 Jan · PMID 41619055 · Publisher ↗
BACKGROUND: Women with previous gestational diabetes mellitus (GDM) are at high risk of developing type 2 diabetes mellitus (T2DM). Although early postpartum screening is recommended, metabolic changes occurring during t...
BACKGROUND: Women with previous gestational diabetes mellitus (GDM) are at high risk of developing type 2 diabetes mellitus (T2DM). Although early postpartum screening is recommended, metabolic changes occurring during the first year remain poorly characterized, and Italian guidelines do not include assessment at this time point. AIM: To evaluate glycaemic and metabolic changes one year after delivery in women with previous GDM and identify clinical and lifestyle predictors of postpartum glucose impairment. METHODS: A cohort of 134 women with prior GDM was assessed at 6-12 weeks (T0) and one year postpartum (T1). Anthropometric, biochemical, nutritional, lifestyle, and quality-of-life parameters were collected. Dietary habits were evaluated using a 3-day food diary and the PREDIMED questionnaire; physical activity was assessed using the International Physical Activity Questionnaire (IPAQ). Logistic regression models were used to identify predictors of altered OGTT at T1. RESULTS: At baseline, 32.9% of women showed altered OGTT; this increased to 38.8% at one year, while T2DM prevalence rose from 2.2 to 5.2%. Insulin therapy during pregnancy was the only independent predictor of dysglycaemia at T1 (OR 3.5, 95% CI 1.28-9.50, p = 0.015). Women with altered OGTT reported lower SF-36 scores in the domains "role limitations due to physical health" (p = 0.016) and "health change" (p = 0.030). Breastfeeding was associated with more favourable glucose outcomes (p = 0.009). CONCLUSIONS: One-year follow-up after GDM reveals early metabolic and psychosocial differences not detectable in the early postpartum period. Insulin therapy during pregnancy strongly predicts glucose impairment, highlighting the need for extended postpartum surveillance and targeted lifestyle interventions.
Relationship between body adiposity and glycemic control in children and adolescents with type 1 diabetes.
Maffeis C, Fierri I, Morotti E … +4 more , Caiazza E, Pedranzini Q, Marigliano M, Piona C
Acta Diabetol · 2026 Apr · PMID 41619054 · Full text
AIMS: To investigate the relationship between body adiposity and glycemic control in children and adolescents with type 1 diabetes (T1D). METHODS: This cross-sectional study included 364 children and adolescents aged 6-1...
AIMS: To investigate the relationship between body adiposity and glycemic control in children and adolescents with type 1 diabetes (T1D). METHODS: This cross-sectional study included 364 children and adolescents aged 6-18 years with T1D. Anthropometric indices [BMI, BMI Z-score, waist-to-height ratio (WHtR)] and body composition [fat mass (FM), FM%, fat mass index (FMI)], assessed using bioelectrical impedance analysis, were obtained. Hemoglobin A1c and glucose sensor metrics, including time in range (TIR), were used to assess glycemic control. Associations between variables were analyzed using Spearman's correlation. Logistic regression models were run to identify independent predictors of HbA1c < 7.0% and TIR > 70%, with FMI, WHtR, total daily insulin dose per kg (TDD), treatment modalities, sex, age, diabetes duration, and pubertal stage as independent variables. RESULTS: Adiposity measures (FMI, FM%, and WHtR) were positively associated with HbA1c and negatively with TIR in both sexes. Logistic regression showed that HbA1c < 7% and TIR > 70% were significantly predicted by FMI [OR(95%CI): 0.822(0.704-0.960), p = 0.013, and 0.807(0.681-0.955), p = 0.012, respectively] and WHtR(x100) [OR(95%CI): 0.927(0.874-0.983), p = 0.013, and 0.923(0.866-0.985), p = 0.015, respectively], independently of TDD, sex, treatment modalities and the other independent variables. CONCLUSIONS: Body adiposity negatively impacts glycemic control in children and adolescents with T1D, independent of sex and insulin treatment modalities. Despite technological advances in diabetes care, excess adiposity is emerging as a key modifiable factor associated with poorer glycemic outcomes and, consequently, poorer long-term health in children and adolescents with T1D.
Insulin resistance in type 1 diabetes: the silent burden unmasked by eGDR.
Haqi Ismael A, Hameed EK
Acta Diabetol · 2026 Apr · PMID 41619053 · Publisher ↗
BACKGROUND: Type 1 diabetes mellitus (T1DM) is primarily characterized by insulin deficiency; however, insulin resistance also contributes to poor metabolic outcomes and microvascular complications. The estimated glucose...
BACKGROUND: Type 1 diabetes mellitus (T1DM) is primarily characterized by insulin deficiency; however, insulin resistance also contributes to poor metabolic outcomes and microvascular complications. The estimated glucose disposal rate (eGDR) is a simple, validated surrogate for insulin resistance. This study evaluated the utility of eGDR in predicting microvascular complications and metabolic syndrome (MetS) among Iraqi patients with type 1 diabetes mellitus (T1DM). METHODOLOGY: A cross-sectional study was conducted between November 2024 and July 2025 at the diabetic center in Baghdad Medical City and Al-Mustansiriyah University, a total of 263 adults with T1DM (> 1 year duration) were enrolled. Clinical, anthropometric, and biochemical parameters were collected, and eGDR was calculated. Participants were stratified into quartiles of eGDR. Logistic regression analysis and ROC analysis were performed to evaluate the predictive role of eGDR. RESULTS: The mean age of participants was 25 ± 4.82 years, with an average diabetes duration of 8.62 ± 2.3 years. Suboptimal glycemic control was observed (HbA1c 9.11% ± 1.73). MetS was present in 36.9% of participants, while retinopathy, neuropathy, and nephropathy were detected in 4.6%, 5.7% and 4.6% respectively. Lower eGDR values were significantly associated with higher waist circumference, elevated HbA1c, and hypertension. eGDR independently predicted microvascular complications, with ROC analysis showing excellent discrimination for nephropathy (AUC 0.976), neuropathy (AUC 0.926), and retinopathy (AUC 0.914). The Predictive ability for MetS was moderate (AUC 0.731). CONCLUSION: eGDR is a promising predictor of microvascular complications and MetS in T1DM.Its simplicity and low cost make it a practical clinical tool for early risk stratification, particularly in resource-limited settings.
A TFAP4-UBC9-SUMO1 axis orchestrates pathological mitochondrial hyperfission in diabetic complications.
Jin Z, Jiang Y, Tao D … +5 more , Li Z, He X, Zhou H, Zhu H, Ren L
Acta Diabetol · 2026 Apr · PMID 41603949 · Publisher ↗
BACKGROUND: Mitochondrial failure is a cornerstone of diabetic organ damage. While it is well understood that shattered mitochondria (excessive fission) and aggressive cleanup (mitophagy) drive this deterioration, the up...
BACKGROUND: Mitochondrial failure is a cornerstone of diabetic organ damage. While it is well understood that shattered mitochondria (excessive fission) and aggressive cleanup (mitophagy) drive this deterioration, the upstream genetic "switches" that trigger these processes remain unclear. This study investigates whether a specific regulatory chain the TFAP4-UBC9-SUMO1 axis orchestrates this mitochondrial breakdown in diabetic tissues. METHODS: We analyzed transcriptomic data from four independent cohorts (GEO datasets: GSE1009, GSE4745, GSE6880, and GSE133598) covering diabetic renal and cardiac tissues. By integrating differential expression analysis with functional enrichment tools (GO, KEGG, and GSEA), we mapped the molecular landscape connecting cellular stress to mitochondrial dynamics and metabolic remodeling. RESULTS: Our analysis revealed a synchronized stress response across all datasets rather than isolated gene changes. Diabetic tissues exhibited a distinct upregulation of pathways related to protein SUMOylation, mitochondrial organization, and ER stress. Specifically, the data showed a convergence of signals indicating chronic "Protein processing in the endoplasmic reticulum" and sustained "Mitophagy," accompanied by broad shifts in lipid and energy metabolism. These signatures suggest that the machinery responsible for SUMO-modifying proteins is hyperactive and tightly linked to mitochondrial clearance programs. CONCLUSION: The transcriptomic evidence supports a model where TFAP4 acts as a transcriptional driver that boosts UBC9 and SUMO1 expression. This upregulation likely fuels the SUMO-dependent modification of DRP1, locking mitochondria in a state of hyper-fission and forcing the cell into excessive self-eating (mitophagy). The TFAP4-UBC9-SUMO1 axis thus represents a critical, yet overlooked, engine of mitochondrial depletion and offers a promising new target for halting diabetic complications.
Safety of SGLT-2 inhibitors in patients with glycogen storage disease type Ib and their efficacy in treating disease-associated digestive symptoms and disorders.
Chen Z, Sun Z, Li G … +1 more , Bu H
Acta Diabetol · 2026 Apr · PMID 41603948 · Publisher ↗
BACKGROUND/OBJECTIVES: Employing rigorous epidemiological approaches, we performed a systematic evaluation of Sodium Glucose Cotransporter-2 (SGLT-2) inhibitors for managing digestive system disorders and symptoms associ...
BACKGROUND/OBJECTIVES: Employing rigorous epidemiological approaches, we performed a systematic evaluation of Sodium Glucose Cotransporter-2 (SGLT-2) inhibitors for managing digestive system disorders and symptoms associated with Glycogen Storage Disease Type Ib (GSD Ib). METHODS: Electronic searches were conducted in three databases, with the latest update on 27 October 2025 (PROSPERO reference: CRD420251021881). Two reviewers independently screened records by title and abstract for full-text review. Eligible studies meeting the predefined criteria were assessed for quality using the Joanna Briggs Institute (JBI) Critical Appraisal Checklist for observational studies and the Methodological Index for Non-Randomized Studies (MINORS) for clinical trials, followed by data extraction. RESULTS: Meta-analysis or descriptive synthesis was performed for six common GSD Ib-related digestive symptoms. Multiple studies reported improvement in abnormal gastrointestinal patterns following SGLT-2 inhibitor therapy. Meta-analysis further demonstrated symptomatic relief in moderate-to-severe IBD, recurrent oral mucosal lesions, and anemia, with pooled remission rates (95% CI) under the two models being: 81.1% (68.4%-89.5%) and 85.3% (63.6%-99.2%) for IBD; 81.5% (73.6%-87.4%) and 83.5% (75.7%-90.3%) for oral lesions; and 60.5% (52.6%-68.0%) and 63.8% (48.0%-78.3%) for anemia. Regarding safety, hypoglycemia was the most frequently reported adverse event, followed by urinary tract and genital infections. CONCLUSIONS: The efficacy analysis demonstrated beneficial effects of SGLT-2 inhibitors on six GSD Ib-related digestive disorders and its extra-digestive manifestations, showing potential for improving abnormal gastrointestinal patterns, moderate-to-severe inflammatory bowel disease, recurrent oral mucosal lesions, and anemia.
Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.
Zhang K, Wang Y, Chen S … +1 more , Zhuang X
Acta Diabetol · 2026 Mar · PMID 41591480 · Publisher ↗
Cohen syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the VPS13B gene, classically presenting with developmental delay, distinctive craniofacial features, neutropenia, truncal o...
Cohen syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the VPS13B gene, classically presenting with developmental delay, distinctive craniofacial features, neutropenia, truncal obesity, and progressive retinal dystrophy. Metabolic abnormalities, including insulin resistance and diabetes mellitus, have been increasingly recognized, but early-onset diabetes with diabetic ketoacidosis remains uncommon. We report a 28-year-old Chinese woman with early-onset insulin-resistant diabetes complicated by recurrent diabetic ketoacidosis and nephropathy. She presented with intellectual disability, characteristic facial dysmorphism, truncal obesity with slender limbs, neutropenia, and visual impairment. Diabetes was diagnosed at 24 years of age, with negative islet autoantibodies and preserved C-peptide levels. Whole-exome sequencing identified two novel compound heterozygous VPS13B variants, including a synonymous variant with predicted splice-disrupting effects and a nonsense variant, confirming the diagnosis of Cohen syndrome. This case expands the mutational and metabolic spectrum of Cohen syndrome and highlights the importance of considering syndromic causes and genetic testing in patients with atypical early-onset diabetes.
Continuous glucose monitoring versus self-monitoring of blood glucose in gestational diabetes: an updated systematic review and meta-analysis of randomized controlled trials.
Gautam N, de Souza BL, Abramowitz J … +3 more , Mourão DM, Mirfakhraee S, Abreu M
Acta Diabetol · 2026 Jan · PMID 41591479 · Publisher ↗
AIMS: Continuous glucose monitoring (CGM) benefits pregnant women with type 1 or type 2 diabetes, but its role in gestational diabetes (GDM) remains uncertain. We aimed to compare the effects of CGM with self-monitoring...
AIMS: Continuous glucose monitoring (CGM) benefits pregnant women with type 1 or type 2 diabetes, but its role in gestational diabetes (GDM) remains uncertain. We aimed to compare the effects of CGM with self-monitoring of blood glucose (SMBG) on glycemic, maternal, and neonatal outcomes in women with GDM. METHODS: We compared CGM with SMBG in women with GDM through a systematic search across randomized controlled trials (RCTs) in PubMed, Cochrane Library, Embase, and Scopus. We evaluated glycemic, maternal and neonatal outcomes using a random-effects model. RESULTS: Eleven RCTs (n = 1225) met inclusion criteria. The use of CGM increased the likelihood of achieving appropriate maternal weight gain (RR 1.37, 95% CI 1.02 to 1.82; I = 0%) and reduced mean neonatal birth weight (MD - 122.79 g, 95% CI - 189.78 to - 55.79; I = 0%). CGM use did not change maternal time in range (TIR), time above range (TAR), time below range (TBR), glycated hemoglobin, gestational hypertension, cesarean delivery, macrosomia, preterm delivery, neonatal hypoglycemia, or neonatal intensive care unit admissions. CONCLUSIONS: In women with GDM, the use of CGM improved the likelihood of appropriate maternal weight gain and lowered neonatal birth weight compared with SMBG, but it did not improve overall glycemic control or other maternal and fetal outcomes. TRIAL REGISTRATION: PROSPERO CRD420251044960 (registered 2025).
Anxiety, social responsiveness, and grit among patients with KCNJ11-related neonatal diabetes compared to unaffected siblings.
Desai JM, Letourneau-Freiberg LR, Wroblewski KE … +3 more , Scott MN, Msall ME, Greeley SAW
Acta Diabetol · 2026 Apr · PMID 41591478 · Full text
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...
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 University 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.
Association of air pollution and depressive symptoms with cardiometabolic Multimorbidity in middle-aged and older adults: an analysis based on the China health and retirement longitudinal study (CHARLS).
Li X, Xie L, Sun M … +7 more , Zhao T, Li S, Yang J, Luo Y, Wei Y, Huang D, Li X
Acta Diabetol · 2026 Apr · PMID 41553484 · Publisher ↗
OBJECTIVE: Long-term exposure to air pollution and the presence of depressive symptoms have been associated with an increased prevalence of cardio-metabolic multimorbidity (CMM). However, their associations with CMM amon...
OBJECTIVE: Long-term exposure to air pollution and the presence of depressive symptoms have been associated with an increased prevalence of cardio-metabolic multimorbidity (CMM). However, their associations with CMM among middle-aged and older adults in China remain underexplored. This study aimed to examine the associations of air pollution exposure and depressive symptoms with CMM, and test for potential interactions between these factors, providing evidence to inform public health strategies. METHODS: This cross-sectional study analyzes health data from 8,192 residents aged 45 and older from the 2015 China Health and Retirement Longitudinal Study (CHARLS). CMM is defined as the presence of multiple conditions, including heart disease, diabetes, hypertension, and stroke. Depressive symptoms were assessed using a standardized self-report scale, and air pollution exposure was estimated using satellite-based spatiotemporal models, including PM, PM, PM, SO, NO, and O. Generalized Linear Models (GLM) were used to examine the relationship between air pollution, depressive symptoms, and CMM. Interaction analysis tested whether depressive symptoms modified the association between air pollution and CMM. Sensitivity analysis was conducted using air pollution data from different time windows to validate the robustness of the results, and multiple imputation was employed to handle missing data. RESULTS: The prevalence of CMM in this study was 15.82%. PM, PM, and SO significantly increased the risk of CMM, with ORs of 1.140 (95% CI: 1.073, 1.211, P < 0.01), 1.192 (95% CI: 1.124, 1.265, P < 0.01), and 1.154 (95% CI: 1.089, 1.223, P < 0.01), respectively. After adjusting for sociodemographic and lifestyle factors, these associations remained statistically significant. Depressive symptoms were independently associated with an increased risk of CMM (P < 0.01). No statistically significant interaction between depressive symptoms and air pollutants was observed (all P-interaction > 0.05), indicating that these two factors exert independent effects on CMM risk. CONCLUSION: Long-term exposure to air pollution, particularly PM, PM, and SO, was significantly associated with a higher risk of CMM. Depressive symptoms were also independently linked to increased CMM risk. Although we hypothesized potential synergistic effects, statistical analyses revealed no significant interaction between depressive symptoms and air pollutants (all P-interaction > 0.05), indicating that these factors operate through independent pathways. Integrating both air quality control and mental health interventions into chronic disease prevention strategies could help reduce the overall CMM burden.
Clinical outcomes off-pump comparing on-pump coronary artery bypass surgery in diabetic patients: updated systematic review and meta-analysis.
Elmozugi T, Khelifa H, Badr A … +9 more , Harfoush MK, Shehata M, Alganadi R, Ziada A, Hegazy I, Ali OM, Albaoni HK, Otmani Z, Al Swayah MB
Acta Diabetol · 2026 Jun · PMID 41533073 · Publisher ↗
BACKGROUND: Patients with diabetes mellitus are at high risk for coronary artery disease and frequently undergo coronary artery bypass grafting (CABG). Off-pump CABG (OPCAB) has been proposed to reduce perioperative comp...
BACKGROUND: Patients with diabetes mellitus are at high risk for coronary artery disease and frequently undergo coronary artery bypass grafting (CABG). Off-pump CABG (OPCAB) has been proposed to reduce perioperative complications compared with on-pump CABG (ONCAB), but long-term outcomes remain uncertain. METHODS: We conducted a systematic review and meta-analysis in accordance with PRISMA 2020 and Cochrane guidelines. Five databases were searched through May 2025 for randomized trials and observational cohorts comparing OPCAB and ONCAB in adults with diabetes. Risk of bias was assessed using RoB-2 and ROBINS-I, and evidence quality was graded with GRADE. RESULTS: Seventeen studies were included. No significant differences were observed in 30-day (RR = 0.82, 95% CI: 0.51-1.31; I² = 64%), 1-year (RR = 0.93, 95% CI: 0.56-1.55; I² = 65.6%), or 5-year mortality (RR = 1.09, 95% CI: 0.78-1.53; I² = 58.8%). Randomized data suggested a possible increase in late mortality with OPCAB. OPCAB was associated with lower rates of cerebrovascular events, pulmonary complications, reoperation for bleeding, prolonged ventilation, and intensive care unit stay. No differences were found in myocardial infarction, renal failure, atrial fibrillation, or sternal wound infection. Incomplete revascularization occurred more frequently with OPCAB (RR = 1.96, 95% CI: 1.28-3.0). CONCLUSIONS: In diabetic patients undergoing CABG, OPCAB may reduce postoperative morbidity without altering overall survival. These findings underscore the need to balance perioperative benefits against potential long-term risks when selecting the surgical approach.
The effect of 5MTP on the expression of inflammatory markers in human aortic endothelial cell.
Marucci A, Mangiacotti D, Salvemini L … +2 more , Menzaghi C, Trischitta V
Acta Diabetol · 2026 Apr · PMID 41528437 · Publisher ↗
AIM: 5-methoxytryptophan (5MTP), derived from tryptophan and produced by endothelial cells, is known for its anti-inflammatory activity. Whether and to what extent 5MTP directly influences the expression of inflammatory...
AIM: 5-methoxytryptophan (5MTP), derived from tryptophan and produced by endothelial cells, is known for its anti-inflammatory activity. Whether and to what extent 5MTP directly influences the expression of inflammatory molecules in human endothelial cells has never been addressed. This would be interesting to understand, especially in people with type 2 diabetes who are chronically “inflamed” and in whom strong associations between tryptophan metabolism and cardiovascular disease have been reported. To this aim, we studied the direct effect of 5MTP on the expression of several inflammatory molecules in cultured human endothelial cells (TeloHAECs) treated with long-time and high-glucose incubation to mimic the typical inflammatory milieu of patients with type 2 diabetes. METHODS: Gene expression of 15 cytokines, 7 chemokines and 5 growth factors in TeloHAECs “inflamed” with long-time (48-h) and high-glucose (25 mM) incubation and then treated or not with 5MTP (100 uM) was evaluated. Control cells were incubated for 24-h and 5.5 mM glucose plus 19.5 mM mannitol. RESULTS: We found that, the combination of long-time and high-glucose incubation significantly increased the expression of most cytokines and chemokines. Such overexpression was not affected by 5MTP. CONCLUSION: Our data suggest that in human endothelial cells the established anti-inflammatory role of 5MTP is not mediated by a direct effect on the expression of inflammatory molecules.
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