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.

Type 2 diabetes compromises SARS-CoV-2-specific immunological memory following ChAdOx1 nCoV-19 vaccination.

Introduction: Despite the success of vaccination, isolated cases of COVID-19 infection are being reported in the vulnerable subjects worldwide. Given that individuals with type-2 diabetes (T2D) often exhibit immune dysregulation, this study aimed to characterize SARS-CoV-2-specific immunity following ChAdOx1 nCoV-19 vaccination in subjects with T2D.

Methods: We recruited 55 T2D and 60 healthy control (HC) subjects and monitored their immunological parameters at baseline, 3rd, 6th, and 12th month post-ChAdOx1 nCoV-19 vaccination.

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.

Detection of Carbapenem-Resistant Genes Among Clinical Isolates of Acinetobacter baumannii in a Tertiary Care Hospital.

Background , an opportunistic pathogen associated with healthcare-associated infections, poses a major clinical challenge due to its ability to develop resistance to multiple drugs, particularly carbapenems. Objective The aim of the study was to detect the presence of different carbapenem resistance genes in clinical isolates of . Materials and methods A cross-sectional study was conducted from March 2023 to December 2023 in the Department of Microbiology of a tertiary care hospital, India.

Pituitary incidentaloma: a Pituitary Society international consensus guideline statement.

This Pituitary Society Consensus article presents an evidence-based consensus on the management of pituitary incidentaloma, defined as an unexpected sellar or parasellar finding incidentally discovered on an imaging study that was not performed for a clinically suspected pituitary lesion. Recommendations are offered for when endocrinology, neurosurgery and ophthalmology consultation, dedicated pituitary imaging, pituitary hormone testing and visual assessment are warranted for macroadenomas, microadenomas, cystic lesions and empty sella, as well as when surgical resection is indicated for incidental pituitary adenomas and cystic sellar lesions. Special considerations in patients with multiple endocrine neoplasia type 1, children and adolescents, older people, and pregnant women are addressed.

Revisiting radioresistance: a systematic review of outcomes of Stereotactic radiosurgery (SRS) in functional head and neck paragangliomas.

This systematic review evaluates the role of stereotactic radiosurgery (SRS) in managing functional head and neck paragangliomas (FPG), which pose unique challenges due to catecholamine secretion and associated functional symptoms. Currently there are no established management guidelines for FPG because of their rarity. We explore clinical, radiological and hormonal outcomes of SRS and conventional radiotherapy (RT), challenging traditional assumptions of radioresistance in FPG.

Immune Reconstitution Inflammatory Syndrome Following Remission of Cushing's Syndrome and Review of Literature.

The current study aims to report cases of immune reconstitution inflammatory syndrome (IRIS) following Cushing's syndrome (CS) treatment and elucidate various presentations of IRIS and its management. A single-centre study was conducted in individuals with endogenous CS who presented with immune reconstitution inflammatory syndrome after CS remission. A literature review was also conducted to describe the previous reporting of IRIS.

Primary autoimmune hypothalamitis: management strategies and long-term outcomes in a tertiary care setting with a focused review of literature.

Background: Primary autoimmune hypothalamitis is an exceptionally rare inflammatory condition of the hypothalamus. Its etiology, clinical presentation, and management are not well established, with significant overlap and distinctions from hypophysitis.

Material And Methods: This study presents management and outcomes of patients with autoimmune hypothalamitis managed at a tertiary care centre.

Association of primary hyperparathyroidism with pituitary adenoma and management issues.

The co-occurrence of primary hyperparathyroidism (PHPT) and pituitary adenomas (PAs) is often indicative of underlying genetic syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) and, less commonly, MEN4. Although both conditions can occur sporadically, their simultaneous presence warrants evaluation for genetic mutations, with MEN1 mutations being the most frequent cause. The management of concurrent PHPT and PAs, especially in MEN1 patients, presents unique challenges.

Malignant thyroid neoplasm with ectopic Cushing's syndrome.

An adult man in his 30s with newly diagnosed diabetes mellitus and hypertension presented with a 33 lb weight gain, generalised swelling and classic Cushingoid features, including proximal muscle weakness, easy bruisability, wide violaceous striae and a painless, progressively enlarging right-sided neck swelling over the past month. Physical examination revealed a 4×4 cm thyroid mass, facial plethora and dorsocervical fat pads. Laboratory investigations confirmed hypercortisolism with elevated cortisol and Adrenocorticotropic Hormone(ACTH), with non-suppression on dexamethasone suppression tests.

Ectopic acromegaly with tumoral range hyperprolactinemia and apoplexy with a dramatic regression of pituitary hyperplasia.

Acromegaly due to ectopic secretion of growth hormone-releasing hormone (GHRH) is a rare disorder. The signs and symptoms of ectopic acromegaly are indistinguishable from acromegaly due to a somatotroph adenoma. A 35-year-old female presented with secondary amenorrhea for 10 years, intermittent headache, and reduced vision in both eyes for 4 years, which worsened over 4 months before presentation.

Calcifediol boosts efficacy of ChAdOx1 nCoV-19 vaccine by upregulating genes promoting memory T cell responses.

The ChAdOx1 nCoV-19 (COVISHIELD) vaccine has emerged as a pivotal tool in the global fight against the COVID-19 pandemic. In our previous study eligible subjects were supplemented with calcifediol, a direct precursor to the biologically active form of vitamin D, calcitriol with an objective to enhance the immunogenicity of the COVISHIELD vaccine. Herein we investigated the effects of calcifediol supplementation on gene expression profiles in individuals who received the COVISHIELD vaccine.

Normative Data for Insulin-Like Growth Factor 1 in Healthy Children and Adolescents From India.

Background: Serum insulin-like growth factor 1 (IGF-1) is an important biochemical tool to diagnose and monitor growth hormone (GH)-related disorders. However, ethnicity-specific Indian data, following consensus criteria for the establishment of normative data, are not available. Our objective was to generate chronological age (CA)-, bone age (BA)- and Tanner stage-specific normative data for IGF-1 in healthy Indian children and adolescents.

Bone mineral density, turnover, and microarchitecture assessed by second-generation high-resolution peripheral quantitative computed tomography in patients with Sheehan's syndrome.

Unlabelled: Sheehan's syndrome (SS) is a rare but well-characterized cause of hypopituitarism. Data on skeletal health is limited and on microarchitecture is lacking in SS patients.

Purpose: We aimed to explore skeletal health in SS with bone mineral density (BMD), turnover, and microarchitecture.

Osteoporosis and Obesity.

Introduction: This article concisely overviews the complex relationship between obesity and bone health. Obesity, characterized by excessive fat accumulation, has been traditionally associated with higher bone mineral density. Also, recent data suggest a favorable bone microarchitecture profile in these patients.

Efficacy, safety, and dose-response effects of calcifediol supplementation on 25-hydroxyvitamin D, parathyroid hormone, and 1,25-dihydroxyvitamin D levels in healthy adults: An open-label, interventional pilot study.

Background: Vitamin D deficiency (VDD) is highly prevalent across the globe. Cholecalciferol (Vitamin D3) fails to attain sufficient serum concentrations of 25-hydroxyvitamin D (25(OH)D) in a significant proportion of supplemented individuals. Calcifediol (25-hydroxyvitamin D3) is less studied in healthy adults and its effects on 25(OH)D, parathyroid hormone (PTH), and 1,25-dihydroxyvitamin D (1,25(OH)2D) at higher doses are not well known.