scholarly journals Single-Nucleotide Polymorphisms in the P2x7 Receptor Gene are Associated with Bone Mineral Density and Ankle Fractures

2019 ◽  
Vol 4 (4) ◽  
pp. 2473011419S0007
Author(s):  
Kelly Cristina Stéfani ◽  
Túlio Diniz Fernandes

Category: Ankle, Basic Sciences/Biologics, Trauma, Osteoporosis Introduction/Purpose: The objective of this study is to determine the associations among genetic variations in the P2X7 receptor gene, decreased bone mineral density (BMD), and the risk of osteoporosis in patients older than 50 years with ankle fractures. Methods: A Level-1 diagnostic study was conducted. Patients over 50 years of age with ankle fractures who had undergone surgical treatment were divided into two groups following the result of a bone densitometry: a study group with osteopenia (bone mineral density T score between -1 and -2.5) or osteoporosis (bone mineral density T score = -2.5) and the control group with normal values (bone mineral density T score = -1). Exclusion criteria were alterations that led to secondary osteoporosis. Patients were genotyped for 15 nonsynonymous single nucleotide polymorphisms (SNPs) within the P2X7 receptor (numbered from 1 to 15) obtained from saliva. We evaluated 121 patients with ankle fractures, 56 being from the control group, and 65 from the study group. All patients were sedentary, did not take any medication for the treatment of osteoporosis, did not smoke, and had suffered a low-impact trauma. Results: The grouped assessment of the SNP alterations showed that if a gene has three or more SNP variants (36.4% of the 121 patients), out of the 15 possibilities, it is altered with clinical repercussions related to the loss or gain of the function of the gene. In evaluating the SNP alterations individually, the results suggest that: SNPs 1,4,14, and 15 are loss of function variants; SNPs 5 and 10 are described as loss of function variants; however, they have no influence on our study population; SNPs 11 and 13 are loss of function variants and not gain of function function as is described in the literature; and SNP 12 was associated with a loss of function in our population. Conclusion: In conclusion, we demonstrate that functional polymorphisms in P2X7 are associated with BMD and with an increased risk of ankle fractures. The limitations of our study are its focus on non-synonymous polymorphisms, which do not cover all genetic variations in P2X7, and its small sample size compared to the international literature. One of this study’s strengths is the fact it is the first to evaluate P2X7 in the Brazilian population.

2019 ◽  
Vol 13 (Supl 1) ◽  
pp. 93S
Author(s):  
Kelly Cristina Stéfani ◽  
Ciro Dresh Martinhago ◽  
Túlio Diniz Fernandes

Objective: The objective of this study is to determine the associations among genetic variations in the P2X7 receptor gene, decreased bone mineral density (BMD), and the risk of osteoporosis in patients aged older than 50 years with ankle fractures. Methods: Patients were genotyped for 15 nonsynonymous single-nucleotide polymorphisms (SNPs) in the P2X7 gene. The sample was divided into two groups according to the bone densitometry results: an intervention group with osteopenia (T scores between –1.0 and –2.5) or osteoporosis (T scores ≤ –2.5) and a control group with values within the normal range (T scores ≥ –1). A total of 121 patients were evaluated: 65 in the intervention group and 56 in the control group. Results: The results suggested that SNPs 1, 4, 11, 13, 14, and 15 were loss-of-function (LOF) variants. SNP 12 was also associated with LOF in our population, but its RNA expression has not been analyzed to date. Conclusions: In conclusion, we demonstrate that functional polymorphisms in P2X7 are associated with BMD and with an increased risk of ankle fractures. The limitations of our study are its focus on nonsynonymous polymorphisms, which do not cover all genetic variations in P2X7, and its small sample size compared with the international literature. A strength of this study is that it is the first to evaluate P2X7 in the Brazilian population.


2019 ◽  
Vol 5 (1) ◽  
pp. 30
Author(s):  
Edy Waliyo ◽  
Nopriantini Nopriantini ◽  
Shelly Festilia Agusanty

Abstract: Effect of Lampung Banana Potassium on Bone Mineral Density in the Elderly. This study aims to determine the effect of banana lampung on bone mineral density in the elderly in the Social Welfare Tresna Werdha and Werdha Graha Kasih Father’s home). This research is a research with experimental design with the separate sample pretest posttest control group design. The research was carried out in the Tresna Werdha Social Institution and the Werdha Graha Kasih Father’s house, from May to July 2017. The sampling technique was taken by random sampling The result of potassium feeding on 150 grams of banana per day for 30 days by increasing BMD T-score of 0.17 while in control group (without banana lampung) BMD T-score decreased by - 0.32. After intervention in both groups showed a difference of BMD T-score of 0.49. Abstrak: Pemberian Kalium Buah Pisang Lampung terhadap Densitas Mineral Tulang pada Lansia. Penelitian ini bertujuan untuk mengetahui mengetahui pengaruh pemberian buah pisang lampung terhadap bone mineral density pada lansia di wilayah Panti Sosial Tresna Werdha dan panti Werdha Graha Kasih Bapa). Penelitian yang dilakukan ini adalah penelitian dengan desain eksperimen dengan rancangan the separate sample pretest posttest control group design. Penelitian dilaksanakan di wilayah Panti Sosial Tresna Werdha dan panti Werdha Graha Kasih Bapa), mulai bulan Mei s/d Juli 2017. Teknik sampling diambil dengan cara random sampling Hasil pemberian kalium pada buah pisang lampung sebanyak 150 gr setiap hari selama 30 hari dengan dapat meningkatkan BMD T-score sebesar 0,17 sedangkan pada kelompok control (tanpa pemberian buah pisang lampung) BMD T-score menurun sebesar - 0,32. Setelah intervensi pada ke dua kelompok menunjukkan adanya perbedaan BMD T-score sebesar 0,49.


2021 ◽  
pp. 107110072199626
Author(s):  
Young Hwan Park ◽  
Hyun Woo Cho ◽  
Jung Woo Choi ◽  
Hak Jun Kim

Background: The association between ankle fractures in elderly patients and low bone mineral density (BMD) has recently been recognized, but the effect of BMD on the postoperative outcome of these fractures is unknown. The aim of this study was to investigate the effect of BMD on the postoperative outcome of ankle fractures in elderly patients to evaluate the need for BMD screening. Methods: We retrospectively reviewed 48 patients aged 65 years or older who had ankle fractures and underwent dual-energy x-ray absorptiometry to assess BMD after surgical treatment of the fracture. Postoperative outcomes were assessed using the Olerud-Molander Ankle Score (OMAS), visual analog scale (VAS) score for pain, Kellgren and Lawrence (K&L) grading scale score, and quality of fracture reduction. The correlation between the BMD and the outcome measures at 12 months after surgery was analyzed using the Pearson correlation coefficient. Results: The mean absolute value of BMD was 0.6 ± 0.1 g/cm2 (T-score, –1.5 ± 1.2) at the femoral neck and 0.8 ± 0.2 g/cm2 (T-score, –1.2 ± 1.5) at the lumbar spine. Osteoporosis was present in 33% of female patients and in 11% of male patients. At 12 months after surgery, the OMAS was 70 ± 17 and the VAS score for pain was 18 ± 17. Of the patients, 20, 21, 5, 1, and 1 had K&L grades of 0, 1, 2, 3, and 4, respectively. None of the clinical and radiographic outcome measures were correlated with the BMD values of the patients. Conclusion: The postoperative outcome of the ankle fractures in elderly patients at 12 months after surgery showed no correlation with femoral neck or lumbar spine BMD at the time of fracture. Level of Evidence: Level III, retrospective comparative study.


2020 ◽  
Vol 7 (3) ◽  
pp. 431
Author(s):  
Arvind C. ◽  
Ragul B. ◽  
Sudha M.

Background: Hypothyroidism alone is not a risk factor for osteoporosis but the patient on treatment with levothyroxine in chronic terms have the greater chances of osteoporosis. This study is to evaluate the role of chronic levo-thyroxine treatment on bone mineral density and the development of osteoporosis.Methods: A cross sectional descriptive study in which patients with recently diagnosed as hypothyroidism were taken as the first group and the second group as those who were having hypothyroidism for more than 2 years plus on chronic treatment with levothyroxine. Healthy premenopausal women were the control group. TSH was measured in all and the T score were used to measure osteoporosis severity. T score of lumbar vertebra and neck of femur were used for comparison. The description of qualitative data was done in absolute frequencies and percentages. The description of quantitative data were done as the, mean standard deviation, median, minimum and maximum. In the comparison of qualitative data between groups, the Chi-square test and contingency tables was used by rearranging the percentages of several variables (TSH, t-score). The statistical significance was set p<0.05.Results: TSH levels in the first group were slightly different from rest of the groups. T score were significantly lesser in patients in the second group who are diagnosed with hypothyroidism and on treatment with levothyroxine.Conclusions: The treatment for hypothyroidism with levo thyroxine reduces both TSH and bone mineral density in the study groups. Proper control of risk factors and avoidance of high dose thyroxine supplements are an effective way in prevention of osteoporosis.


2014 ◽  
Vol 4 (1) ◽  
pp. 26-30
Author(s):  
Amila Kapetanović ◽  
Dijana Avdić

Introduction: Estrogen deficiency leads to bone mass loss and increased risk for osteoporosis. The aim of this study was to examine influence of cigarette smoking on bone mineral density in postmenopausal women with estrogen deficiency in menstrual history.Methods: The total of 100 postmenopausal women living in Sarajevo area, aged 50-65 years, with estrogen deficiency in menstrual history participated in this prospective study. The subjects were divided in two groups, examination and control group, based on bone mineral density values. The women in the examination group had osteoporosis while in the control group were women with osteopenia or normal bone mineral density. Bone mineral density was measured at the lumbar spine and proximal femur by Dual–Energy X–ray Absorptiometry using Hologic QDR-4000 scanner. Smoking habits were assessed for each subject.Results: The average number of cigarettes smoked per day in women with estrogen deficiency in menstrual history was 14.86 in the examination group and 4.67 in the control group. The difference in the average number of cigarettes smoked per day between the two groups was statistically significant (p <0.01). The coefficient of linear correlation between T score and the number of cigarettes smoked per day among women with estrogen deficiency in menstrual history in the examination group was statistically significant (p<0.01). The coefficient of linear correlation between T score and the number of cigarettes smoked per day among women with estrogen deficiency in menstrual history in the control group was statistically significant ( p<0.05).Conclusion: Results of this study suggest that cigarette smoking has negative impact on bone mineral density and that healthy lifestyle (no smoking) has the potential to reduce bone loss in postmenopausal women with estrogen deficiency in menstrual history.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1266.1-1266
Author(s):  
A. Ajerouassi ◽  
K. Nassar ◽  
S. Janani

Background:Osteoporosis is common in spondyloarthritis, due to reduced spinal mobility, and inflammation. Anti-inflammatory treatments have a beneficial effect on the bone, and there is a significant increase in bone density during treatment with anti-TNF alpha.Objectives:to study bone mineral density in patients with ankylosing spondyloarthritis (AS) treated with anti-TNF alpha.Methods:This is a retrospective descriptive study of patients with AS meeting the modified New York criteria. Bone mineral density, assessed by dual energy x-ray absorptiometry (DXA), of AS patients treated with anti-TNF alpha was compared to that of a control group of AS patients not treated with anti-TNF alpha.Inclusion criteria:- Male patients- Patients who do not have an abnormality disrupting phosphocalcic and bone metabolism- For Patients on anti-TNF alpha: the treatment must be received for more than 6 monthsResults:A total of 22 patients were included, including 11 patients on anti-TNF alpha and 11 patients not on anti-TNF. The mean age (standard deviation) was 28 (± 7.2) years and 41 (± 14.8) in the cases and controls respectively. The mean body mass index in the AS group on anti-TNF was 22.16 kg / m2 and in the control group was 19.64 kg / m2. In the AS group on anti-TNF alpha, the mean bone mineral density of the spine was 1.092 g / cm2 (mean T score = -0.63) and that of the femoral neck, the mean bone mineral density was 0.888g / cm2 (mean T score = -1.04). In the control group, the mean bone mineral density of the spine was 0.959 g / cm2 (mean T score = -1.91) and the mean bone mineral density of the femoral neck was 0.774 g / cm2 (mean T score = -1.99). Bone mineral density in the spine and cervix was higher in the group receiving anti-TNF alpha (p = 0.09, p = 0.173 respectively)Conclusion:Our study shows the increase, although not statistically significant, in bone mineral density in AS patients receiving anti-TNF alpha agents compared to controls. Our results agree with those of the literature which support the bone protective effect of anti-TNF alpha. The non-significant difference can be explained by the delay in the introduction of biotherapy at the advanced stage of the structural evolution of AS. The best solution is to start TNF inhibitors at the early inflammatory stage of AS.Disclosure of Interests:None declared.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Moritz Mühlenfeld ◽  
André Strahl ◽  
Ulrich Bechler ◽  
Nico Maximilian Jandl ◽  
Jan Hubert ◽  
...  

Abstract Background Patients with rheumatic diseases have a high risk for joint destruction and secondary osteoarthritis (OA) as well as low bone mineral density (BMD, i.e., osteoporosis). While several factors may lead to low BMD in these patients, the value of BMD measurements in rheumatic patients with end-stage OA scheduled for total joint arthroplasty is unknown. Methods In this retrospective cross-sectional study of 50 adults with secondary OA due to rheumatic diseases, we evaluated dual energy X-ray absorptiometry (DXA) measurements of both hips and the spine performed within 3 months prior to arthroplasty (n = 25 total hip arthroplasty, THA; n = 25 total knee arthroplasty, TKA). We analyzed various demographic and disease-specific characteristics and their effect on DXA results by using group comparisons and multivariate linear regression models. Results Although patients undergoing TKA were younger (63.2 ± 14.2 vs. 71.0 ± 10.8 yr., p = 0.035), osteoporosis was observed more frequently in patients scheduled for TKA than THA (32% vs. 12%). Osteopenia was detected in 13/25 patients (52%) in both the THA and TKA cohort. In the THA cohort, female sex, lower BMI and prednisolone use were associated with lower T-score in the hip. In TKA patients, higher OA grade determined by Kellgren-Lawrence score was associated with lower T-score in the hip of the affected side. Conclusions Osteoporosis is present in a considerable frequency of rheumatic patients with end-stage OA, and THA and TKA patients show distinct frequencies and risk factors of low BMD. Our findings point to a potential value of DXA regarding preoperative evaluation of bone status.


2013 ◽  
Vol 2 (2) ◽  
pp. 130-134
Author(s):  
Md. Farid Amanullah ◽  
BP Shrestha ◽  
GP Khanal ◽  
NK Karna ◽  
S Ansari ◽  
...  

Background: Fragility fractures are one of the major health problems. Many factors are associated with it some of which are modifiable and some are not. If we know the value of T-score at which fragility fracture occurs and associated factors responsible for fragility fracture than we will be able to control this burden to the society. The objective of this study is to determine association between fragility fracture and bone mineral density (BMD) using bone densitometry and to know the value of T-score at which fragility fracture occurs. Methods: Patients presenting to B.P. Koirala Institute of Health Sciences with fragility fracture of distal end of radius, fracture around hip and vertebral fractures were included in the study to know the value of T-score at which fragility fracture occurs and their associated risk factor. Patients less than 50 years of age, high energy trauma fracture and pathological fractures were excluded from the study. Results: We found that being multipara, smoking, alcohol consumption, post-hysterectomized patients and steroid intake had significant association with fragility fracture. There was no association with religion, geographic location, associated medical illness, age, sex, associated injury and site of injury. Conclusion: The patients with risk factor for fragility fracture like smoking, alcohol consumption, multipara women, post-hysterectomized women and those who are on long term steroid therapy should undergo BMD test and the value at -3.254 are prone to fragility fracture and should be treated accordingly. Nepal Journal of Medical Sciences | Volume 02 | Number 02 | July-December 2013 | Page 130-134 DOI: http://dx.doi.org/10.3126/njms.v2i2.8956


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