Frontiers in clinical diabetes and healthcare最新文献

Neonatal diabetes mellitus (NDM) is a rare cause of diabetes characterized by the presence of severe hyperglycemia typically diagnosed within the first six months of life. Among the main causes are activating variants in heterozygosity in the KCNJ11 gene. Variants in this gene can lead to a spectrum of clinical manifestations, from transitory neonatal diabetes mellitus to DEND syndrome, the most severe form, characterized by developmental delay, epilepsy, neonatal diabetes, and muscle hypotonia. The disease may be present in a milder intermediate form named iDEND syndrome. Patients with KCNJ11 variants may present with attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), developmental coordination disorder (DCD), and learning difficulties due to diminished intelligence quotient (IQ) and dyslexia. These patients can benefit from genetic counseling as most of them can switch from insulin to sulfonylurea treatment with good glycemic control and no severe side effects; besides, some studies report a neurological improvement after the treatment switch. In the present work, we reported a follow-up of a 24-year-old Brazilian male with DEND syndrome due to the KCNJ11 c.754G>A; p.(Val252Met) variant. He was diagnosed with diabetes at 25 days of age and presented with bilateral hypoacusis in the first years of life. He started insulin at the diagnosis. However, the genetic diagnosis was made only at the age of 15 years, and he was switched from insulin to sulfonylurea. At 24 years of age, he presents with good glycemic control and reports no severe episodes of hypoglycemia or hyperglycemia. However, no neurological improvement was observed. This report highlights the potential benefits of switching to sulfonylurea treatment, even in patients with long-standing diagnoses of DEND syndrome, and underscores the importance of genetic diagnosis, as early initiation of sulfonylurea therapy may improve metabolic control and, in some cases, neurological outcomes.

Introduction: The prevalence of gestational diabetes mellitus (GDM) is significantly increasing. Hyperglycaemia and dyslipidaemia have been demonstrated to contribute to endothelial dysfunction linked to foetal-placental circulation. Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) is crucial for the lipolytic processing of TG-rich lipoproteins through the anchoring of lipoprotein lipase (LPL). In this study, circulating GPIHBP1 levels during pregnancy were evaluated, and their associations with hypertriglyceridaemia and the perinatal outcomes of GDM were evaluated.

Methods: This study included 12 pregnant women with GDM and 21 pregnant women with normal glucose tolerance (NGT).

Results: No significant differences in obstetrical outcomes were detected between the two groups. In participants with NGT, circulating GPIHBP1 levels were markedly lower in the 3rd trimester than in the 2nd trimester and at delivery. In women with GDM, circulating GPIHBP1 levels were unchanged during the 3rd trimester, and circulating GPIHBP1 levels throughout the 3^rd trimester were negatively correlated with neonatal birth weight percentile and umbilical venous pO₂ (ρ=-0.636, p=0.026; ρ=-0.657, p=0.020).

Discussion: Our findings suggest a possible association between circulating GPIHBP1 levels and perinatal outcomes in patients with GDM.

Type 1 diabetes mellitus (T1DM) is an autoimmune disorder characterized by the destruction of pancreatic β-cells, necessitating lifelong exogenous insulin. This review synthesizes key advances that are shifting T1DM management from symptomatic control to disease modification and potential cure. We examine progress in novel insulin formulations and automated insulin delivery systems, alongside groundbreaking immunomodulatory therapies and gene-edited stem cell therapies that aim to restore native β-cell function and achieve insulin independence. The article also discusses the potential of phytomedicines and gut microbiota modulation. This review provides insights into the unique challenges of implementing these innovations within the Chinese healthcare context, highlighting the need for high-quality clinical research, personalized strategies, and improved healthcare accessibility to enhance long-term patient outcomes.

Introduction: There are limited data regarding the role of oral glucose tolerance test (OGTT) in classifying glycemic alterations in patients with adrenal incidentaloma (AI). This study aims to compare the frequency of dysglycemia [pre-diabetes mellitus (DM) and DM] among patients with non-functioning adrenal incidentalomas (NFAI), mild autonomous cortisol secretion (MACS), and controls; and to assess the area under the curve (AUC) in the OGTT and determine whether the OGTT was decisive in diagnosing dysglycemia in each population.

Methods: A cross-sectional study was conducted on 65 NFAI (1mg-dexamethasone suppression test [DST] ≤1.8μg/dL), 45 MACS (1mg-DST ≥1.9μg/dL), and 56 controls. The control group was selected based on normal adrenal imaging. Patients were classified as normoglycemic or dysglycemic based on fasting glucose, glycated hemoglobin, and OGTT.

Results: AUC >290mg.h/dL was found in 75% of MACS, 55% of NFAI, and 22% of controls (p=0.008). The presence of AI was determinant for this result. Glucose levels ≥155 mg/dL at the 1-hour during the OGTT were observed in 75% of MACS, 65% of NFAI, and 28% of controls (p=0.01). Dysglycemia frequency was higher in MACS and NFAI than controls (91.1 vs. 90.8 vs. 73.2%; p=0.01). The OGTT changed the classification in 27% of MACS, 23% of NFAI, and 3% of controls (p=0.03). Presence of AI increased the odds ratio for benefiting from OGTT to obtain a more accurate dysglycemia classification by 9.5 times.

Conclusion: Patients with AI had a higher dysglycemia frequency, and a significant number of these patients benefited from OGTT in classifying glycemic alterations.

The obesity paradox describes a counterintuitive phenomenon where overweight or mildly obese individuals with chronic diseases show better survival compared to those with normal weight. While this paradox has been reported in conditions such as heart failure and type 2 diabetes, its presence in type 1 diabetes (T1D) remains uncertain. This mini review summarizes current evidence from large cohort studies and a meta-analysis examining the association between body mass index (BMI) and clinical outcomes in individuals with T1D. Most findings do not support a protective effect of higher BMI; instead, both underweight and obesity are associated with increased risks of cardiovascular events and all-cause mortality. Notably, some evidence suggests that individuals with advanced diabetic nephropathy or chronic kidney disease (CKD) may show the lowest mortality at mildly elevated BMI levels. However, these observations may reflect the limitations of using BMI alone to evaluate obesity. Given that individuals with T1D often have reduced skeletal muscle mass, and that those with advanced diabetic complications or comorbidities such as CKD or cancer may develop cachexia, body composition analysis is essential. Accurate assessment of fat mass, muscle mass, bone mass, and water content is critical for understanding obesity-related risks. Future research should integrate body composition metrics to improve risk stratification in T1D.

Objective: This study constructed a tertiary hospital-community health service center diabetes linkage management model with the participation of clinical pharmacists, assessed the changes in clinical indicators and medication treatment of patients with type 2 diabetes before and after the implementation of the model, and evaluated the model, with a view to providing a model reference in the participation of clinical pharmacists in the management of type 2 diabetes and other chronic diseases. Given the current situation that diabetes management at the community level in China is still unsatisfactory, with an HbA1c control rate of less than 10% compared to about 50% in tertiary hospitals, there is an urgent need to explore innovative, pharmacist-involved models to bridge this gap.

Methods: Using the principle of randomization, patients who met the enrollment criteria were divided into the experimental group and the control group. A total of 210 patients were enrolled from three community health service centers in Nanjing in collaboration with Drum Tower Hospital, and were followed up for 12 months. Clinical indicators and medication adherence were used as evaluation endpoints to compare the differences in management effects between the two groups. This study was registered with the Chinese Clinical Trial Registry (ChiCTR2300074444).

Results: Under the diabetes linkage management model, patients in the intervention group showed improvement in blood glucose, glycated hemoglobin and other indicators compared with the control group; the medication adherence score of patients in the intervention group was significantly higher than that of the control group.

Conclusion: The clinical efficacy and medication level of diabetic patients were significantly improved after management by this management model, which provides a reference for clinical pharmacists to carry out pharmacy services in the context of hierarchical diagnosis and treatment. This model may contribute to narrowing the quality gap between tertiary hospitals and community health service centers in diabetes care.