scholarly journals Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1438
Author(s):  
Patryk Lipiński ◽  
Karolina M. Stępień ◽  
Elżbieta Ciara ◽  
Anna Tylki-Szymańska ◽  
Aleksandra Jezela-Stanek
Keyword(s):  
Risk Factors ◽  
Bone Mineral Density ◽  
Bone Mineral ◽  
Skeletal Dysplasia ◽  
Clinical Manifestations ◽  
Congenital Disorders ◽  
Genetic Profile ◽  
Congenital Disorders Of Glycosylation ◽  
Mineral Density ◽  
Skeletal Involvement

Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone mineral density. Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia. In some of them, prenatal-onset severe skeletal dysplasia is observed associated with early death. Osteoporosis or osteopenia are frequently observed in all CDG types and are more pronounced in adults. Hormonal dysfunction, limited mobility and inadequate diet are common risk factors for reduced bone mineral density. Skeletal involvement in CDGs is underestimated and, thus, should always be carefully investigated and managed to prevent fractures and chronic pain. With the advent of new therapeutic developments for CDGs, the severity of skeletal complications may be reduced. This review focuses on possible mechanisms of skeletal manifestations, risk factors for osteoporosis, and bone markers in reported paediatric and adult CDG patients.

scholarly journals Risk Management of Osteoporosis in Postmenopausal Women; A Study of Women In a Teaching Hospital

2016 ◽  
Vol 8 (11) ◽  
pp. 36 ◽  
Author(s):  
Chander Kumar Lohana ◽  
Nafisa Samir
Keyword(s):  
Risk Factors ◽  
Bone Mineral Density ◽  
Postmenopausal Women ◽  
Bone Mineral ◽  
Public Awareness ◽  
Clinical Manifestations ◽  
Radiology Department ◽  
Premature Menopause ◽  
Mineral Density ◽  
History Of

<p><strong>BACKGROUND: </strong>Postmenopausal females are susceptible to osteoporosis due to clinical manifestations. It not only causes morbidity; but, is considered to strikingly decline quality of life among patients. Among different developing regions, the prevalence rate of osteoporosis among postmenopausal women is alarming in the face of poor management and awareness about its risk factors.</p><p><strong>AIM:</strong> The aim of this study was to investigate the incidence of osteoporosis and its known risk factors among postmenopausal women appearing for bone mineral density in Karachi.</p><p><strong>METHODOLOGY: </strong>This descriptive cross-sectional study was undertaken from the period of “March 2006 to March 2007” in “Aga Khan University hospital”, Karachi. A total of 245 females, who came to the radiology department at Aga Khan Hospital for DXA scan, were recruited. All the relevant data was collected through questionnaires. Data analysis was undertaken by using SPSS version 11.5 to generate frequencies and proportion percentages.</p><p><strong>RESULTS: </strong>The study demonstrated that 99 females (40%) amongst all subjects were osteopenic, 114 females (47%) were osteoporotic; whereas, 32 females (13%) were normal. A decline was observed in bone mineral density with advancing age and duration of menopause. The distribution of osteoporosis was observed to be common in women, who had more children, low BMI, history of prior fractures, history of premature menopause, and were avoiding exercise.</p><p><strong>CONCLUSION:</strong> This study confirmed a high frequency of osteoporosis and osteopenia in postmenopausal women. Therefore, early screening is required to detect the decrease in bone mineral density among postmenopausal females to prevent fragility fracture. There is an imperative requirement for vast public awareness in this regard.</p>

Bone mineral density and associated risk factors: in healthy Indian population

2016 ◽  
Author(s):  
Swati Waghdhare ◽  
Neelam Kaushal ◽  
Rajinder K Jalali ◽  
Divya Vohora ◽  
Sujeet Jha
Keyword(s):  
Risk Factors ◽  
Bone Mineral Density ◽  
Bone Mineral ◽  
Indian Population ◽  
Mineral Density ◽  
Associated Risk Factors

Review of the Literature Examining the Association of Serum Uric Acid with Osteoporosis and Mechanistic Insights into Its Effect on Bone Metabolism

2019 ◽  
Vol 19 (3) ◽  
pp. 259-273 ◽  
Author(s):  
Neelam Kaushal ◽  
Divya Vohora ◽  
Rajinder K Jalali ◽  
Sujeet Jha
Keyword(s):  
Risk Factors ◽  
Bone Mineral Density ◽  
Uric Acid ◽  
Bone Metabolism ◽  
Serum Uric Acid ◽  
Bone Mineral ◽  
Molecular Mechanisms ◽  
Association Studies ◽  
Mineral Density ◽  
Age Related

Background And Objective:Osteoporosis is a common bone disorder that increases susceptibility to fragility bone fractures. The clinical and public health repercussions of osteoporosis are huge due to the morbidity, mortality, and cost of medical care linked with fragility fractures. Clinical assessment of osteoporotic risk factors can help to identify candidates at an early stage that will benefit from medical intervention and potentially lowering the morbidity and mortality seen with fractures and complications. Given this, research is ongoing to evaluate the association of osteoporosis with some novel or less well-studied risk factors/bio-markers such as uric acid (UA).Discussion:Uric acid’s antioxidant activity has been proposed to be one of the factors responsible for increasing longevity and lowering rates of age-related cancers during primate evolution, the level of which increased markedly due to loss of uricase enzyme activity (mutational silencing). Accumulated evidence shows that oxidative stress is the fundamental mechanism of age-related bone loss and acts via enhancing osteoclastic activity and increasing bone resorption. Antioxidant substances such as ascorbic acid scavenge free radicals are positively related to bone health. Thus, it is hypothesized that uric acid holds bone-protective potential owing to its potent antioxidative property. Several correlation studies have been conducted globally to investigate the relationship between serum uric acid with bone mineral density and osteoporosis. Few pre-clinical studies have tried to investigate the interaction between uric acid and bone mineral density and reported important role played via Runt-related transcription factor 2 (RUNX2)/core-binding factor subunit alpha-1 (CBF-alpha-1), Wingless-related integration site (Wnt)-3a/β-catenin signaling pathway and 11β Hydroxysteroid Dehydrogenase type 1.Conclusion:In this review, the authors provided a comprehensive summary of the literature related to association studies reported in humans as well work done until date to understand the potential cellular and molecular mechanisms that interplay between uric acid and bone metabolism.

scholarly journals P129 Predictors of low bone mineral density in rheumatoid arthritis

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Malika A Swar ◽  
Marwan Bukhari
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Bone Mineral Density ◽  
Family History ◽  
Bone Loss ◽  
Femoral Neck ◽  
Bone Mineral ◽  
Fragility Fracture ◽  
Mineral Density ◽  
History Of

Abstract Background/Aims  Osteoporosis (OP) is an extra-articular manifestation of rheumatoid arthritis (RA) that leads to increased fracture susceptibility due to a variety of reasons including immobility and cytokine driven bone loss. Bone loss in other populations has well documented risk factors. It is unknown whether bone loss in RA predominantly affects the femoral neck or the spine. This study aimed to identify independent predictors of low bone mineral density (BMD) in patients RA at the lumbar spine and the femoral neck. Methods  This was a retrospective observational cohort study using patients with Rheumatoid arthritis attending for a regional dual X-ray absorptiometry (DEXA) scan at the Royal Lancaster Infirmary between 2004 and 2014. BMD in L1-L4 in the spine and in the femoral neck were recorded. The risk factors investigated were steroid use, family history of osteoporosis, smoking, alcohol abuse, BMI, gender, previous fragility fracture, number of FRAX(tm) risk factors and age. Univariate and Multivariate regression analysis models were fitted to explore bone loss at these sites using BMD in g/cm2 as a dependant variable. . Results  1,527 patients were included in the analysis, 1,207 (79%) were female. Mean age was 64.34 years (SD11.6). mean BMI was 27.32kg/cm2 (SD 5.570) 858 (56.2%) had some steroid exposure . 169(11.1%) had family history of osteoporosis. fragility fracture history found in 406 (26.6%). 621 (40.7%) were current or ex smokers . There was a median of 3 OP risk factors (IQR 1,3) The performance of the models is shown in table one below. Different risk factors appeared to influence the BMD at different sites and the cumulative risk factors influenced BMD in the spine. None of the traditional risk factors predicted poor bone loss well in this cohort. P129 Table 1:result of the regression modelsCharacteristicB femoral neck95% CIpB spine95%CIpAge at scan-0.004-0.005,-0.003&lt;0.01-0.0005-0.002,0.00050.292Sex-0.094-0.113,-0.075&lt;0.01-0.101-0.129,-0.072&lt;0.01BMI (mg/m2)0.0080.008,0.0101&lt;0.010.01130.019,0.013&lt;0.01Fragility fracture-0.024-0.055,0.0060.12-0.0138-0.060,0.0320.559Smoking0.007-0.022,0.0350.650.0286-0.015,0.0720.20Alcohol0.011-0.033,0.0 5560.620.0544-0.013,0.1120.11Family history of OP0.012-0.021,0.0450.470.0158-0.034,0.0650.53Number of risk factors-0.015-0.039,0.0080.21-0.039-0.075,-0.0030.03steroids0.004-0.023,0.0320.030.027-0.015,0.0690.21 Conclusion  This study has shown that predictors of low BMD in the spine and hip are different and less influential than expected in this cohort with RA . As the FRAX(tm) tool only uses the femoral neck, this might underestimate the fracture risk in this population. Further work looking at individual areas is ongoing. Disclosure  M.A. Swar: None. M. Bukhari: None.

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