Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.

Effect of Oral Semaglutide on Volumetric BMD and Bone Microarchitecture in Overweight/Obese Individuals with Type 2 Diabetes.

Obesity, type 2 diabetes, and therapeutic weight loss are all associated with impaired bone quantity and microarchitecture. Glucagon-like peptide receptor analogs (GLP1RAs) have direct beneficial effects on bone microarchitecture, in preclinical settings. This study aimed to evaluate the net impact of GLP1RA on microarchitecture in overweight/obese type 2 diabetes individuals.

A Prospective Observational Case-Control Study on Bone Mineral Density in Asian-Indians With and Without Femoral Neck Fragility Fractures and Delineation of Fracture Thresholds.

Introduction: The present study aims to compare bone mineral density (BMD) between adults with femoral neck (FN) fragility fractures and an equal number of age- and sex-matched healthy controls and delineate sex-specific BMD cut-offs that could predict FN fragility fractures.

Materials And Methods: Adult patients with FN fragility fractures admitted at our institution between January 2017 and December 2018 were enrolled. Patients with secondary causes of osteoporosis were excluded.

Evaluation of quality of life in primary hyperparathyroidism patients: Pre- and post-parathyroidectomy outcomes in an Indian cohort.

Objective: Primary hyperparathyroidism (PHPT) is a common endocrine condition that causes hypercalcemia and other symptoms due to improper parathyroid hormone (PTH) secretion. With fatigue, bone pain, and neuropsychiatric difficulties, the disorder drastically lowers quality of life (QoL). This study uses Pasieka's parathyroid symptoms score to evaluate parathyroidectomy's impact on Indian PHPT patients' QoL.

Revolutionizing Diabetes Management Through Nanotechnology-Driven Smart Systems.

Diabetes is a global health challenge, and while current treatments offer relief, they often fall short in achieving optimal control and long-term outcomes. Nanotechnology offers a groundbreaking approach to diabetes management by leveraging materials at the nanoscale to improve drug delivery, glucose monitoring, and therapeutic precision. Early advancements focused on enhancing insulin delivery through smart nanosystems such as tiny capsules that gradually release insulin, helping prevent dangerous drops in blood sugar.

Effect of recombinant human parathyroid hormone and zoledronic acid on osteoblast gene expression using multifaceted approach: An in vitro study.

Background: Bone is an endocrine organ that despite being inert in appearance constantly undergoes remodeling, in which wear and tear of bone cells occur. With more than two decades of clinical experience, the molecular mechanisms of anti-fracture drugs are not completely understood because they inhibit osteoclastic activity and differentiate the osteoblast cells. Recent studies suggest fundamentally different mechanisms of action for key anti-fracture drugs, bisphosphonates, and recombinant human parathyroid hormone (rhPTH) at the tissue level; however, their molecular basis of action has not been explored completely.

Ankle brachial index and brachial-ankle pulse wave velocity as predictor for major adverse limb events and all-cause mortality in diabetes.

Background: Ankle-brachial index (ABI) is not a reliable index predicting cardiovascular events, as a significant number of patients with normal ABI do have cardiovascular events. Brachial-ankle pulse wave velocity (BaPWV), a non-invasive vascular assessment index for predicting CV events in normal ABI is not studied in type 2 diabetes (T2D).

Methods: This prospective study included people with T2D from year 2013 until December 2022 or death.

Safety and Efficacy of Peptide Receptor Radionuclide Therapy in Multiple Endocrine Neoplasia Syndrome: A Single-center Experience.

Purpose: Peptide receptor radionuclide therapy (PRRT) is recommended and approved in advanced neuroendocrine tumors (NETs). There is a lack of data on the utility of PRRT in multiple endocrine neoplasia (MEN) syndrome. This study explores the utility of PRRT in MEN syndrome patients with inoperable/metastatic NETs.

A novel molecular imaging technique using [Ga]Ga-mDesmo PET-CT for localizing tumors in Cushing's disease.

Introduction: Localizing the source of adrenocorticotropic hormone (ACTH) in patients with ACTH-dependent Cushing's syndrome (CS) poses significant challenges. There is a pressing need for novel imaging modalities that provide both anatomical delineation and functional confirmation of corticotropinomas.

Methods: This study utilized a modified form of desmopressin (mDesmo), an agonist of the V1b receptor, which is overexpressed in tumoral corticotrophs.

An exploratory, open-label, parallel group, randomised controlled trial evaluating the effect of gene based nutritional intervention in type 2 diabetes: The protocol for NUDGE clinical trial.

Introduction: Type 2 diabetes mellitus (T2DM) presents significant public health challenges in India, where unique genetic and phenotypic characteristics elevate susceptibility. Recent research highlights the interaction of genetic polymorphisms and dietary factors in T2DM management, forming the basis of personalised nutrition interventions. This study outlines the protocol for NUDGE clinical trial to evaluate the efficacy of gene-based dietary strategies compared to standard recommendations in T2DM management.

Exploring currently available fibroblast activation protein targeting molecules in adrenocortical carcinoma: Navigating theranostic pathways.

Introduction: Cancer-associated fibroblasts (CAFs) expressing fibroblast activation protein (FAP) in the adrenocortical carcinoma (ACC) microenvironment may be used as potential therapeutic targets. This study investigated the diagnostic potential of four FAPi derivatives i.e.

Enhancer of zeste homolog 2 (EZH2) in endocrine tumors: current knowledge and future directions.

Introduction: Enhancer of zeste homolog 2 (EZH2) is a histone methyltransferase that orchestrates gene expression via epigenetic and non-epigenetic mechanisms. EZH2 performs epigenetic functions by methylating histones and/or non-histone proteins and suppressing or activating target genes. Moreover, non-epigenetic functions involve dysregulation of target genes independent of histone methylation, thereby impacting multiple signaling pathways.

Safety and efficacy of fixed-dose combination of dapagliflozin and saxagliptin in patients with type 2 diabetes mellitus - a phase 4 study in India.

Objective: To determine the post-marketing safety profile of a once-daily fixed-dose combination (FDC) of dapagliflozin (10 mg) and saxagliptin (5 mg) given orally for 24 weeks or until discontinuation, in Indian patients with type 2 diabetes mellitus (T2DM) who are on stable dose of metformin.

Design: Prospective, single-arm, multicenter study.

Setting: Adult patients with T2DM enrolled from April 2021 to March 2023 across 9 study sites in India.

Molecular basis of symptomatic sporadic primary hyperparathyroidism: New frontiers in pathogenesis.

Primary hyperparathyroidism is a common endocrine disorder characterized by inappropriate elevation of parathyroid hormone and hypercalcemia. While predominantly an asymptomatic disease in Western populations, symptomatic presentations are more prevalent in Eastern countries. The molecular pathogenesis of sporadic PHPT primarily involves genetic and epigenetic alterations leading to abnormal parathyroid cell proliferation and altered calcium sensing mechanism.

Dapagliflozin for Small Nerve Fibre Regeneration in Diabetic Peripheral Neuropathy: A Randomised Controlled Study (DINE).

Objectives: There are currently no FDA-approved disease-modifying therapies for diabetic peripheral neuropathy (DPN). We evaluated the effect of the sodium-glucose cotransporter 2 inhibitor (SGLT2i) dapagliflozin in Type 2 diabetes mellitus (T2DM) with DPN.

Research Design And Methods: In this prospective, open-label, randomised, controlled study, 40 participants with DPN were randomised to receive add-on 10 mg dapagliflozin OD (Group A) to existing oral antidiabetic drugs (OAD) (n = 22) or continue OADs as a standard of care (Group B) (n = 18).

Pregnancy with primary hyperparathyroidism.

Primary hyperparathyroidism (PHPT) in pregnancy is rare. The physiological changes that occur in pregnancy often tend to mask the symptoms of PHPT, thereby making diagnosis challenging. If left undiagnosed, PHPT can lead to significant feto-maternal morbidity, which, primarily depends on maternal serum calcium levels.

Mirrored Metastatic Neuroendocrine Tumor in a Mother-Daughter Duo With Mutations in the MEN1 Gene.

Multiple endocrine neoplasia (MEN) 1 syndrome may present with either of any or all neuroendocrine tumors (NETs), parathyroid and pituitary adenoma. There is a paucity of data on the intronic and exonic mutations in the MEN1 gene associated with the MEN1 syndrome. We present an interesting study of a mother-daughter duo of MEN1 who had a similar lesions distribution of metastatic NET and underwent genetic analysis to reveal a rare mutation in the MEN1 gene and both first-degree relatives presented with metastatic NET without any other syndromic manifestation of MEN1 syndrome.

Long COVID psychiatric sequelae, biochemical markers & tau protein: A 3-year follow-up study.

Background: A significant percentage of COVID-19 survivors experience long-term neuropsychiatric and physical issues. Baseline biochemical parameters may be linked to these psychiatric sequelae.

Aim: This study aimed to explore the association between baseline biochemical parameters and psychiatric outcomes in COVID-19 survivors three years post-infection.

Cost-effectiveness of FRAX®-based intervention thresholds for management of osteoporosis in Indian women: a Markov microsimulation model analysis.

Unlabelled: A cost-effectiveness analysis of FRAX® intervention thresholds (ITs) in Indian women over 50 years indicated that generic alendronate was cost-effective for age-dependent major osteoporotic fracture (MOF) ITs and hip fracture (HF) ITs starting at ages 60 and 65 years for full and real-world adherence, respectively. Alendronate was cost-effective at fixed MOF IT of 14% and HF IT of 3.5%, regardless of age.

Multi-scale inferomedial femoral neck bone quality in type 2 diabetes patients with fragility fracture.

Both trabecular and cortical bone undergo changes at multiple scales. We previously demonstrated the multi-scale changes in trabecular bone quality that contribute to bone fragility in type 2 diabetes (T2D). The link between increased fragility in T2D and multi-scale changes in cortical bone and their interaction with glycation remains unclear.