Osteoporotic changes in bone and cartilaginous tissue in women with ovarian hypofunction

Annotation. Osteoporosis is the most common disease of the musculoskeletal system, which ranks 4th in the world as a cause of disability and mortality among non-communicable diseases. This is a polyetiological systemic disease of bone tissue, characterized by a decrease in bone mass and deterioration of bone structure and increased fragility. This problem has not only a medical aspect, but also important socio-economic significance in all countries of the world due to the high cost of treatment of such patients and high disability. The aim of the work is to study and analyze the scientific literature and give a generalized description of etiological factors, pathogenesis, primary and secondary methods of prevention of osteoporosis in women with ovarian hypofunction in the pre- and menopausal periods. An analysis of recent research and publications on the problem of osteoporosis and changes in the skeletal system. The main risk factors, etiology and pathogenesis of osteoporosis in the pre- and menopausal period of a woman's life are determined, the main methods of prevention of osteoporosis are described. The most common form of primary osteoporosis is postmenopausal osteoporosis, the trigger of which is hypogonadal states, estrogen deficiency, which causes a sharp acceleration of bone loss. I guarantee healthy bone tissue and prevention of osteopenia and osteoporosis are: accumulation of bone mass in the first 30 years, mechanical stress contributes to the restructuring and remodeling of bone tissue throughout life, timely and early compensation of hypogonadal conditions, improvement of blood flow, improvement of blood flow stability of mineral metabolism and hormonal background. Not all women with hypogonadal condition develop osteoporosis, so studying the use of methods to prevent osteopenia and strengthen bone tissue from a young age is the basis of quality life of modern women at any time in her life in the XXI century, so it needs further study.

Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass

Osteoporosis is the most common bone disease characterized by reduced bone mass and increased bone fragility. Genetic contribution is one of the main causes of primary osteoporosis; therefore, both genders are affected by this skeletal disorder. Nonetheless, osteoporosis in men has received little attention, thus being underestimated and undertreated. The aim of this study was to identify novel genetic variants in a cohort of 128 males with idiopathic low bone mass using a next-generation sequencing (NGS) panel including genes whose mutations could result in reduced bone mineral density (BMD). Genetic analysis detected in eleven patients ten rare heterozygous variants within the LRP5 gene, which were categorized as VUS (variant of uncertain significance), likely pathogenic and benign variants according to American College of Medical Genetics and Genomics (ACMG) guidelines. Protein structural and Bayesian analysis performed on identified LRP5 variants pointed out p.R1036Q and p.R1135C as pathogenic, therefore suggesting the likely association of these two variants with the low bone mass phenotype. In conclusion, this study expands our understanding on the importance of a functional LRP5 protein in bone formation and highlights the necessity to sequence this gene in subjects with idiopathic low BMD.

Congenital Metabolic Bone Disorders as a Cause of Bone Fragility

Bone fragility is a pathological condition caused by altered homeostasis of the mineralized bone mass with deterioration of the microarchitecture of the bone tissue, which results in a reduction of bone strength and an increased risk of fracture, even in the absence of high-impact trauma. The most common cause of bone fragility is primary osteoporosis in the elderly. However, bone fragility can manifest at any age, within the context of a wide spectrum of congenital rare bone metabolic diseases in which the inherited genetic defect alters correct bone modeling and remodeling at different points and aspects of bone synthesis and/or bone resorption, leading to defective bone tissue highly prone to long bone bowing, stress fractures and pseudofractures, and/or fragility fractures. To date, over 100 different Mendelian-inherited metabolic bone disorders have been identified and included in the OMIM database, associated with germinal heterozygote, compound heterozygote, or homozygote mutations, affecting over 80 different genes involved in the regulation of bone and mineral metabolism. This manuscript reviews clinical bone phenotypes, and the associated bone fragility in rare congenital metabolic bone disorders, following a disease taxonomic classification based on deranged bone metabolic activity.

Factors Affecting Spine–Femur Discordance in The Percentage of Young Adult Mean On Dual-Energy X-Ray Absorptiometry in The Elderly Population: A Retrospective Study

Background Several retrospective studies have reported spine–femur discordance in bone mineral density (BMD) values. However, the average age of individuals in these studies was the mid-50s, which is younger than the typical age of individuals requiring treatment for primary osteoporosis. Therefore, we aimed to investigate factors associated with discordance in the percentage of young adult mean (YAM) between the lumbar spine and femoral neck in the elderly population. Methods We evaluated 4549 dual-energy X-ray absorptiometry (DXA) measurements obtained from 2161 patients (269 men and 1892 women) between January 2014 and December 2017 at our hospital. For individuals with more than one eligible set of measurements, the first record was used. We investigated each patient’s age, sex, body mass index, current smoking status, alcohol consumption, use of steroids, presence of diabetes mellitus, and presence of rheumatoid arthritis. Results The mean age of the patients was 76.4 ± 8.9 years. Older age (p < 0.001), male sex (p < 0.001), and diabetes mellitus (p = 0.007) were significantly associated with spine–femur discordance in the percentage of YAM. Conclusion The frequency and magnitude of spine–femur discordance in the percentage of YAM from DXA scans increased with age. Notably, more than 77.36% of patients in their 90s had spine–femur discordance > 10% of YAM. Furthermore, the frequency of spine–femur discordance was higher in men and in patients with diabetes mellitus, suggesting that the percentage of YAM at the lumbar spine may not be reliable for diagnosis of osteoporosis in patients with these factors.

Effect of class IV laser therapy and Pilates exercises on bone density and pain in primary osteoporosis: a randomised controlled trial

Background/aims Osteoporosis is a systemic disorder characterised by a decrease in bone quality and density. This causes the bones to become weak and unable to withstand mild stresses, and the associated pain is made worse with activities. The aim of this study was to investigate the effect of class IV laser therapy and Pilates exercises on bone mineral density and pain in patients with primary osteoporosis. Methods A total of 60 patients with osteoporosis (40 women and 20 men) participated in this study. Their age ranged between 40 and 60 years. They were allocated randomly to three groups: Group A (n=20) received multiwave locked system laser therapy, group B (n=20) patients received Pilates exercises and group C (n=20) received multiwave locked system laser therapy and Pilates exercises. The treatment programme took place three times a week for 8 weeks. Bone mineral density of the lumbar spine (L1–L4) was measured by dual-energy X-ray absorptiometry and pain intensity during activities was measured by using the Numeric Pain Rating Scale. Evaluation of lumbar bone mineral density and pain intensity were performed before and after 8 weeks. Results The statistical analysis of this study revealed there was a significant increase of T-scores post-treatment compared to pre-treatment within group A (P=0.0001; P<0.05), group B (P=0.0001; P<0.05), and group C (P=0.0001), with improvement percentages of 19.59, 34.69 and 50.66% respectively. There was a decrease of pain intensity during activities post-treatment compared to pre-treatment within group A (P=0.0001; P<0.05), group B (P=0.0001; P<0.05) and group C (P=0.0001), with improvement percentages of 41.28, 54.39 and 70.09% respectively. Conclusions Class IV laser therapy and Pilates exercises are useful therapeutic modalities to increase bone mineral density and decrease pain in patients with osteoporosis, but combining them is more effective than using them separately.