Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants
Posted inDiabetes & Endocrinology news

Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants

A systematic analysis reveals that the pathogenicity of loss-of-function variants in MODY genes is gene-specific and dependent on nonsense-mediated decay status. Crucially, NMD-escape variants in the INS gene represent a novel, clinically distinct cause of MODY, improving diagnostic precision for monogenic diabetes.
Precision Risk Stratification in Cushing’s Disease: Integrating USP8 Genotype and Tumor Size to Predict Long-Term Recurrence
Posted inDiabetes & Endocrinology news

Precision Risk Stratification in Cushing’s Disease: Integrating USP8 Genotype and Tumor Size to Predict Long-Term Recurrence

An international cohort study demonstrates that combining USP8 genotype with tumor size significantly improves the prediction of recurrence in Cushing's disease, identifying high-risk patients even among those with low postoperative cortisol levels, paving the way for personalized long-term follow-up.
Short-Course Romosozumab Followed by Denosumab Is Non-Inferior to Standard 12-Month Regimen for Postmenopausal Osteoporosis
Posted inDiabetes & Endocrinology news Rheumatology

Short-Course Romosozumab Followed by Denosumab Is Non-Inferior to Standard 12-Month Regimen for Postmenopausal Osteoporosis

The LIDA trial demonstrates that a 3-month abbreviated course of romosozumab followed by denosumab is non-inferior to the standard 12-month regimen in increasing total hip bone mineral density, potentially reducing treatment costs and injection burden for high-risk postmenopausal women.
Long-Term Benfotiamine Treatment Fails to Improve Diabetic Polyneuropathy: Insights from the BOND Randomized Controlled Trial
Posted inDiabetes & Endocrinology Neurology news

Long-Term Benfotiamine Treatment Fails to Improve Diabetic Polyneuropathy: Insights from the BOND Randomized Controlled Trial

The 12-month BOND study found that high-dose benfotiamine (600 mg daily) did not significantly improve corneal nerve fiber length or other neurophysiological markers in patients with type 2 diabetes and symptomatic polyneuropathy, despite successfully increasing systemic thiamine levels.
Semaglutide Mitigates Cardiometabolic Risk in Early-Stage Schizophrenia: Insights from a Randomized Clinical Trial
Posted inDiabetes & Endocrinology news Psychiatry

Semaglutide Mitigates Cardiometabolic Risk in Early-Stage Schizophrenia: Insights from a Randomized Clinical Trial

A landmark RCT demonstrates that adjunctive semaglutide significantly improves glycemic control and induces substantial weight loss in individuals with schizophrenia spectrum disorders treated with second-generation antipsychotics, potentially closing the mortality gap in this high-risk population.
SGLT2 Inhibitors Provide Robust Kidney Protection Across All Stages of CKD and Levels of Albuminuria: Evidence from the SMART-C Meta-Analysis
Posted inDiabetes & Endocrinology Nephrology news

SGLT2 Inhibitors Provide Robust Kidney Protection Across All Stages of CKD and Levels of Albuminuria: Evidence from the SMART-C Meta-Analysis

A meta-analysis of over 70,000 participants confirms that SGLT2 inhibitors significantly reduce chronic kidney disease progression regardless of baseline kidney function or albuminuria levels, supporting their use even in patients with Stage 4 CKD or minimal protein excretion.