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 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.

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.

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.

Trabecular and cortical bone microarchitecture using high-resolution peripheral quantitative computed tomographic imaging in diabetic peripheral neuropathy.

Context: Type 2 Diabetes Mellitus (T2D) is associated with an increased risk of fragility fracture despite normal areal bone mineral density (BMD). The contribution of diabetic peripheral neuropathy (PN) to volumetric BMD (vBMD) and bone microarchitecture in T2D is not explored.

Objective: To assess vBMD and microarchitectural properties of bone using high-resolution peripheral quantitative computed tomography (HR-pQCT) in patients of T2D with or without PN.

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.

Effect of inelastic deformation on strain rate-dependent mechanical behaviour of human cortical bone.

In this study, the role of inelastic deformation of bone on its strain rate-dependent mechanical behaviour was investigated. For this, human cortical bone samples were cyclically loaded to accumulate inelastic strain and subsequently, mechanical response was investigated under compressive loading at different strain rates. The strain rate behaviour of fatigued samples was compared with non-loaded control samples.

Drug-induced osteopetrosis.

Osteopetrosis (OPT) denotes the consequences from failure of osteoclasts to resorb bone and chondroclasts to remove calcified physeal cartilage throughout growth. Resulting impairment of skeletal modeling, remodeling, and growth compromises widening of medullary spaces, formation of the skull, and expansion of cranial foramina. Thus, myelophthisic anemia, raised intracranial pressure, and cranial nerve palsies complicate OPT when severe.

Multilevel Annotation of Germline MEN1 Variants of Synonymous, Nonsynonymous, and Uncertain Significance in Indian Patients With Sporadic Primary Hyperparathyroidism.

Primary hyperparathyroidism (PHPT) is third most common endocrine disorder characterized by hypercalcemia with elevated or nonsuppressed parathyroid hormone levels by parathyroid tumors. Familial PHPT, as part of multiple endocrine type-1, occurs due to the germline mutation in the MEN1 gene. The involvement and the role of germline MEN1 variations in sporadic PHPT of Indian PHPT patients are unknown.

Effects of type 2 diabetes on the viscoelastic behavior of human trabecular bone.

Unlabelled: Type 2 diabetes (T2D) is a well-known disease that impaired bone mechanical properties and increases the risk of fragility fracture. The bone tissue is a viscoelastic material that means the loading rate determines its mechanical properties. This study investigates the impact of T2D on the viscoelastic properties of human bone and its association with microstructure and biochemical properties.

Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates.

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterized by diffuse diaphyseal osteosclerosis. Skull base involvement in CED can result in hypopituitarism but is seldom reported. Our objective was to report a patient with acquired hypopituitarism due to CED and assess the management challenges.

Effect of ageing on microstructure and fracture behavior of cortical bone as determined by experiment and Extended Finite Element Method (XFEM).

Bone fracture is a severe health concern; therefore, understanding the causes of bone fracture are crucial. This paper investigates the microstructure and fracture behaviour of cadaveric cortical bone of two different groups (Young, n= 6; Aged, n=7). The microstructure is obtained from µ-CT images, and the material parameters are measured with nanoindentation.

Prediction of mechanical properties of trabecular bone in patients with type 2 diabetes using damage based finite element method.

Type-2 diabetic (T2D) and osteoporosis (OP) suffered patients are more prone to fragile fracture though the nature of alteration in areal bone mineral density (aBMD) in these two cases are completely different. Therefore, it becomes crucial to compare the effect of T2D and OP on alteration in mechanical and structural properties of femoral trabecular bone. This study investigated the effect of T2D, OP, and osteopenia on bone structural and mechanical properties using micro-CT, nanoindentation and compression test.

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN AND LITERATURE REVIEW.

Objective: Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, recessively-inherited form of rickets caused by homozygous or compound heterozygous mutations in the gene that encodes the renal tubular phosphate transporter protein NaPi2c. The bone phenotype varies from severe rickets to no disease. Accurate diagnosis is important as the treatment differs from other forms of rickets.

Diagnostic cut-offs, prevalence, and biochemical predictors of sarcopenia in healthy Indian adults: The Sarcopenia-Chandigarh Urban Bone Epidemiological Study (Sarco-CUBES).

Purpose: Comprehensive data on diagnosis and prevalence of sarcopenia in India are lacking. The present study was undertaken to determine cut-offs for low muscle strength (MS) and low muscle mass (MM), and find out the prevalence of sarcopenia in Indians.

Methods: Apparently healthy individuals aged ≥ 20 years with no prior history of any co-morbidities were recruited from community by door-to-door survey.

Adult hypophosphatasia with a novel mutation: Report of an Indian kindred.

Hypophosphatasia is an inborn error in metabolism characterized by low serum alkaline phosphatase (ALP) activity resulting from deactivating mutations in (also known as ), the gene that encodes the 'tissue-specific' isoenzyme of ALP. The disease exhibits significant clinical heterogeneity that spans from death to only dental complications in adult life. Herein, we report a 47-year-old woman presenting with fracture of shaft of left femur.

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).

Introduction: Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms.

Methodology And Results: Two relatives (cousins) in a family were found to have disproportionate short stature with clinical and radiological features suggestive of SEMD.

Holistic development of coal tar lotion by embedding design of experiments (DoE) technique: preclinical investigations.

: The research work endeavors to develop a liquid dosage form of an efficacious antipsoriatic drug, , coal tar, but having problems like variability and patient noncompliance.: The emulsion was prepared by the wet gum method from standardized coal tar. The optimized lotion obtained after sequential experimental designs was characterized for various dosage form and/or coal tar-related properties including efficacy.

Co-administration of Systemic and Intralesional Zoledronic Acid in a Case of Fibrous Dysplasia: A Potentially Novel Therapy.

Fibrous dysplasia (FD) is a benign bone lesion characterized by replacement of normal bone with abnormal fibrous tissue, clinically manifesting as deformities, bone pains, and pathological fractures. The standard medical management for FD includes systemic bisphosphonate therapy. The efficacy of systemic bisphosphonate is however limited with minimal functional improvement and pain relief.

Kinetic and Kinematic Analysis of Gait in Type IV Osteogenesis Imperfecta Patients: A Comparative Study.

Background: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder characterized by skeletal deformity and increased risk of fracture. Independent mobility is of concern for OI patients as it is associated with the quality of life. The present study investigates the variation of kinetic and kinematic gait parameters of type IV OI subjects and compares them with age-matched healthy subjects.

Fibrogenesis Imperfecta Ossium.

Fibrogenesis imperfecta ossium (FIO) is an extremely uncommon fatal bone disorder of poorly understood etiology. The pathogenesis of FIO is not well known. The fundamental skeletal defect appears to be an abnormality in organic matrix of bone characterized by defective mineralization of the abnormal collagen.

Fibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder.

Context: Fibrogenesis imperfecta ossium (FIO) is a rare and progressive skeletal bone disorder of undetermined etiology. Given its rareness, the pathogenesis of FIO remains elusive and no effective treatment exists. Based on review of all published cases and our collective experience of FIO, we offer a comprehensive approach for the diagnosis and management of this complex and fatal disorder.