Association between bone mineral density and lumbar disc degeneration

ObjectivesHigher vertebral bone mineral density (BMD) has been found to be related with lumbar disc degeneration (LDD), while relationship between femoral neck BMD and LDD remains controversial. The aim of our research was to study the relationship between LDD and BMD of the lumbar spine and femoral neck.Study designThe study population consisted of 168 postmenopausal women (aged 63.3–75.0 years, mean 68.6 years) from the prospective OSTPRE and OSTPRE-FPS study cohorts. The severity of LDD was graded from T2-weighted MRI images using the five-grade Pfirrmann classification. Four vertebral levels (L1-L4) were studied (total 672 discs). The association between lumbar BMD and Z-score and the severity of LDD was studied separately for each vertebral level with AN(C)OVA analysis, using potential confounders as covariates.ResultsHigher lumbar BMD and Z-score were associated with more severe LDD at all studied levels (L1-L4): between L4-L5 disc and L4 BMD (p = 0.044) and L4 Z-score (p = 0.052), between L2-L3 disc and L3 BMD (p = 0.001) and at all other levels (p < 0.001). The mean degeneration grade of the studied discs was associated with the mean L1-L4 BMD and Z-score (p < 0.001). Statistical significance of any result did not alter after controlling for confounding factors. There was no significant association between femoral neck BMD and LDD.ConclusionsHigher lumbar BMD/Z-score were associated with more severe LDD. There was no significant association between femoral neck BMD and disc degeneration. Femoral neck BMD may be a more reliable measurement for diagnosing osteoporosis in postmenopausal women with degenerative changes in the lumbar spine.     

Cement penetration after patella venting

There is a high rate of patellofemoral complications following total knee arthroplasty. Optimization of the cement–bone interface by venting and suction of the tibial plateau has been shown to improve cement penetration. Our study was designed to investigate if venting the patella prior to cementing improved cement penetration.Ten paired cadaver patellae were allocated prior to resurfacing to be vented or non-vented. Bone mineral density (BMD) was measured by DEXA scanning. In vented specimens, a 1.6 mm Kirschner wire was used to breach the anterior cortex at the center. Specimens were resurfaced with standard Profix instrumentation and Versabond bone cement (Smith and Nephew PLC, UK). Cement penetration was assessed from Faxitron and sectioned images by a digital image software package (ImageJ V1.38, NIH, USA). Wilcoxon rank sum test was used to assess the difference in cement penetration between groups. The relationship between BMD and cement penetration was analyzed by Pearson correlation coefficient.There was a strong negative correlation between peak BMD and cement penetration when analyzed independent of experimental grouping (r² = ? 0.812, p = 0.004). Wilcoxon rank sum testing demonstrated no significant difference (rank sum statistic W = 27, p = 0.579) in cement penetration between vented (10.53% ± 4.66; mean ± std dev) and non-vented patellae (11.51% ± 6.23; mean ± std dev). Venting the patella using a Kirschner wire does not have a significant effect on the amount of cement penetration achieved in vitro using Profix instrumentation and Versabond cement.     

Lean soft tissue contributes more to bone health than fat mass independent of physical activity in women across the lifespan

ObjectivesTo investigate the association between lean soft tissue (LST) and fat mass (FM) on bone health variables in women across the lifespan, while taking into account the influence of objectively measured habitual physical activity (PA).Study designA total of 104 women, 37 young (23.3 ± 2.6 years), 28 middle-age (49.2 ± 5.4 years), and 39 old (68.3 ± 6.4 years) participated in this cross-sectional study. All underwent a DXA scan and wore a pedometer for 7 days.Main outcome measuresBone mineral content (BMC) and BMD of the whole body (WB), lumbar spine (LS) and proximal femur (PF), and body composition (FM and LST) were assessed with DXA and PA (steps/day) was assessed from 7 day pedometer counts.ResultsLST was significantly and positively associated with PF and LS BMD (r = 0.34; 0.67, p < 0.05), and WB, PF and LS BMC (r range = 0.41–0.59, p < 0.05) in all age groups and WB BMD in the middle-age group (r = 0.72, p < 0.05) independent of PA, FM, and hormonal status. FM was not positively associated with any bone variable in any age group when adjusted for PA, LST, and hormonal status. PA was significantly associated with WB BMD in the middle-age group (r = 0.60, p < 0.05), independent of LST, FM, and hormonal status.ConclusionsLST contributes more to bone health in women across the lifespan than FM, independent of PA and hormonal status.     

HLA-G 14 bp insertion/deletion polymorphism and its association with sHLA-G levels in Behçet’s disease Tunisian patients

The purpose of this study was to investigate the HLA-G 3’UTR 14 bp polymorphism and sHLA-G levels in Tunisian patients with BD. The study included 119 patients with BD and 170 healthy blood donors (HD). HLA-G 14 bp polymorphism was genotyped by polymerase chain reaction. Serum levels of soluble HLA-G (sHLA-G) were measured using a commercial ELISA kit. A significant increased frequency of the −14 bp HLA-G allele was detected in patients with BD compared to HD (0.58 vs 0.49, p = 0.023), and a significant increased frequency of HLA-G −14/−14 bp was observed in patients with BD compared to HD [0.37 vs 0.22, p = 0.007, OR 2.04 (95% CI 1.21–3.42)]. The mean plasmatic concentration of sHLA-G levels were significantly increased in patients with active disease [231.63 ± 286.4 U/mL] compared to those with inactive disease (103.14 ± 77.8 U/mL, p = 0.03) and HD (121.41 ± 24.1 U/mL, p = 0.04). Furthermore, our results showed that there is no association between HLA-G 14 bp polymorphism and sHLA-G plasma levels.     

Nutrition education in postmenopausal women: Changes in dietary and cardiovascular indices

ObjectiveThe aim of the current study was to examine whether a diet rich in dairy products followed by a nutrition education program for the prevention of osteoporosis could have any adverse effect on certain cardiovascular disease (CVD) risk factors over a 5-month intervention period.MethodsA total sample of 82 women (55–65 years old) was randomized to a dietary intervention group (IG: n = 42), attending biweekly nutrition education program and provided with low-fat, fortified dairy products and to a control group (CG: n = 40). Changes in dietary, biochemical and clinical indices related to CVD were determined at the end of the 5-month intervention period.ResultsThe IG was found to have a higher decrease in the percentage of energy intake derived from total fat and a higher increase in the intake of calcium, phosphorus, magnesium and potassium compared to the CG (p < 0.05). Furthermore, the IG subjects were found to have a lower increase in BMI (0.7 ± 0.1 versus 1.4 ± 0.2 Kg/m², p = 0.011) and systolic blood pressure (SBP) (2.5 ± 2.9 versus 7.8 ± 2.2 mmHg, p = 0.040) and a higher decrease in serum total cholesterol (−5.2 ± 3.3 versus 6.9 ± 5.1 mg/dl, p = 0.042) and LDL-cholesterol levels (−20.0 ± 2.6 versus −12.4 ± 4.2 mg/dl, p = 0.034) compared to the CG.ConclusionsThe findings of the current study indicate that a dietary intervention aiming to minimize the risk for osteoporosis did not have any adverse effects on CVD risk factors. On the contrary, it has induced favourable changes in BMI, serum lipids and SBP.     

PTPN22 polymorphisms,but not R620W,were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population

ObjectivesThe present study aimed to detect a possible association between PTPN22 gene polymorphisms and rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Chinese Han population.Methods7 PTPN22 SNPs were genotyped in 358 patients with RA and 713 patients with SLE, as well as 564 RA controls and 672 SLE controls by Restriction Fragment Length Polymorphism (RFLP). Association analyses were conducted on the whole data set. Significant relationships were also examined between clinical features and SNPs for both RA and SLE.ResultsRs2476601 was lack of polymorphism with a ⩽0.1% frequency in both SLE and RA patients and healthy controls in our study. The two SNPs rs1217414 and rs3811021 of PTPN22 shown strong association with both SLE (rs1217414T: p_adj = 6.07e−004, OR = 0.57; rs3811021C: p_adj = 4.68e−005, OR = 0.65) and RA (rs1217414T: p_adj = 2.01e−008, OR = 0.26; rs3811021C: p_adj = 0.028, OR = 0.70). And the rs3765598 revealed a strong risk factor for SLE (p = 9.38e−009, p_adj = 6.57e−008, OR = 1.93), but not for RA (p = 0.48, OR = 1.12). Moreover, protective haplotype ACTTC in RA (p = 7.73e−016, p_adj = 5.51−015, OR[95%CI] = 0.02[0.002–0.10]) and SLE (p = 8.29e−018, p_adj = 5.80e−017, OR[95%CI] = 0.11[0.06–0.21]) were observed. In addition, the distribution of risk haplotypes ACGTC and GCTTT in RA (ACGTC: p = 0.0006, p_adj = 0.004, OR[95%CI] = 1.85[1.29–2.63]; GCTTT: p = 2.62e−005, p_adj = 1.85e−004, OR[95%CI] = 2.40[1.57–3.65]) and SLE (ACGTC: p = 0.0006, p_adj = 0.004, OR[95%CI] = 1.85[1.29–2.63]; ACGTC: p = 7.74e−011, p_adj = 6.81e−010, OR[95%CI] = 2.21[1.12–3.34]; GCTTT: p = 2.40[1.57–3.65], p_adj = 2.26e−006, OR[95%CI] = 2.64[1.79–3.87]) were significant different from that in controls. Furthermore, significant association was observed between the PTPN22 rs3765598 and antinuclear antibodies 1 (ANA1) in SLE.ConclusionsOur data provide strong evidence that the rs1217414 and rs3811021 in PTPN22 gene might be common protective factors contributed to SLE and RA susceptibility in the Chinese Han population. While, the rs3765598 might increase the genetic susceptibility of SLE, but not RA.     

Sonographic evaluation of endothelial function in letrozole and tamoxifen users

ObjectivesStudies have shown that women previously treated for breast cancer present fewer cardiovascular events, indicating a possible protective effect of tamoxifen treatment. The effects of these aromatase inhibitors on cardiovascular protection remain controversial. The aim of this study was to compare some cardiovascular risk markers among breast cancer survivors following treatment with tamoxifen group (TMXg), letrozole group (LTZg) or no endocrine treatment group (NETg).MethodsA total of 103 breast cancer survivors: 35 using TMXg, 34 using letrozole group (LTZg) and 34 using no endocrine treatment group (NETg) were evaluated. Ultrasonographic evaluation of brachial artery flow-mediated dilation (FMD), carotid intima–media thickness (IMT) and stiffness index (β); blood total cholesterol, HDL and triglycerides were assessed.ResultsAll three groups presented similar values of HDL and IMT. TMXg showed the lowest total cholesterol (219.29 ± 36.31 mg/dL vs. 250.59 ± 38.37 mg/dL vs. 245.09 ± 35.35 mg/dL; TMXg vs. LTZg vs. NETg, respectively; p < 0.01—ANOVA), the highest triglycerides (139.34 ± 41.82 mg/dL vs. 111.35 ± 28.22 mg/dL vs. 122.09 ± 33.42 mg/dL; p < 0.01), the highest FMD (6.32 ± 2.33% vs. 4.10 ± 2.06% vs. 4.66 ± 2.52%; p < 0.01) and the lowest stiffness index (β) (5.08 ± 1.68 vs. 6.28 ± 1.75 vs. 5.99 ± 1.86; p = 0.01). LTZg did not differ significantly from NETg on any evaluated parameter.ConclusionsWe did not observe any effect of LTZg on the evaluated cardiovascular risk parameters compared to NETg. As such, the observed difference on lipid values, stiffness index (β) and FMD between women receiving tamoxifen and letrozole might be best attributed to the beneficial effect of tamoxifen than to a detrimental effect of letrozole.     

Clinical implications of hepatitis B surface antigen quantitation in the natural history of chronic hepatitis B virus infection

BackgroundHBsAg quantitation may be useful for managing patients with hepatitis B virus (HBV) infection.ObjectivesWe explored the clinical implications of HBsAg quantitation for patients with HBsAg levels >250 IU/ml (Abbott Diagnostics).Study designTwo hundred and thirty-three HBV-infected patients comprising 29 immune tolerance cases, 49 treatment-naïve HBeAg-positive chronic hepatitis B (CHB) cases, 91 inactive HBV carrier cases, and 64 treatment-naïve HBeAg-negative CHB cases were analyzed. HBsAg was quantified by the Architect HBsAg assay (Abbott Diagnostics) after a 1:500 automated dilution.Results and conclusionsHBsAg (log 10 IU/ml) was established for immune tolerance (4.50 ± 0.43), HBeAg-positive CHB (4.17 ± 0.66), inactive HBV carrier (3.32 ± 0.44), and HBeAg-negative CHB (3.23 ± 0.40); (p = 4.92 × 10⁻³⁵). No significant difference was observed between inactive HBV carrier and HBeAg-negative CHB (p = 0.247). The proportions of HBsAg <2000 IU/ml for inactive HBV carrier and HBeAg-negative CHB were 51.6% and 59.3%, respectively (p = 0.341). Positive correlations between HBsAg and HBV DNA were observed for immune tolerance (p = 1.23 × 10⁻⁴) and HBeAg-positive CHB (p = 0.003), but not for HBeAg-negative CHB (p = 0.432). A negative correlation between HBsAg and age was observed for immune tolerance (p = 0.030), HBeAg-positive CHB (p = 0.016), and inactive HBV carrier (p = 0.001), but not in HBeAg-negative CHB (p = 0.249). No significant differences between HBsAg and ALT for HBeAg-positive (p = 0.338) or HBeAg-negative CHB (p = 0.564) were observed. For patients with HBsAg quantitation >250 IU/ml, HBsAg may reflect HBV DNA replication for HBeAg-positive cases. HBsAg is not a suitable marker for evaluating hepatitis activity and distinguishing between cases of HBeAg-negative CHB and inactive HBV carrier state.     

Aortic elastic properties and cognitive function in elderly individuals: The Ikaria Study

BackgroundThe aim of this work was to evaluate the association between aortic elastic properties and cognitive function in elderly individuals, permanent inhabitants of Ikaria Island.MethodsIn 535 individuals (75 ± 6 years, 53% males) aortic distensibility (AoD) was non-invasively calculated from the aortic diameters measured with echocardiography and brachial artery pressure using the formula by Stefanadis et al.; cognitive status was evaluated using the Mini Mental State Examination (MMSE).Results88% of the elders had normal values of MMSE score (i.e., ≥24). Elders who achieved MMSE score ≥24 had higher values of AoD (1.90 ± 2.06 vs. 1.08 ± 1.42, p < 0.001), as well as were more physically active (85% vs. 69%, p = 0.05), had higher educational status (8.5 ± 2.8 years vs. 6 ± 2 years, p = 0.001), higher creatinine clearance levels (70 ± 21 vs. 63 ± 23, p = 0.05) and lower pulse pressure (PP) values (63 ± 16 vs. 68 ± 18, p = 0.06), as compared with those individuals with MMSE < 24. Logistic regression analysis showed that for every unit increase in AoD there was a 25% higher likelihood of having MMSE ≥ 24 (OR per 1000 × mmHg^?1 = 1.25, 95%CI 0.99–1.58), after adjustments for age, gender, current smoking, cardiovascular disease, creatinine clearance, hypertension, diabetes mellitus, obesity, physical activity status and education status. Furthermore having PP levels in the upper tertile (>70 mmHg), increases by 55% the likelihood of having MMSE < 24 (OR for above 70 mmHg = 0.45, 95%CI 0.22, 0.92), after the same adjustments were made.ConclusionArterial aging seems to affect cognitive function; a finding that states a novel research hypothesis about the pathophysiological mechanisms of mental functioning.     

The association between carotid or femoral atherosclerosis and low bone mass in postmenopausal women referred for osteoporosis screening. Does osteoprotegerin play a role?

Atherosclerosis and osteoporosis appear to be epidemiologically correlated. Most (but not all) animal and clinical studies suggest that osteoprotegerin (OPG) may represent a possible molecular link between bone loss and vascular calcification. The aim of this study was to investigate the association of OPG with bone mineral density (BMD) and vascular plaques, in order to contribute to a better understanding of the link between atherosclerosis and osteoporosis.The study population consisted of 100 consecutive postmenopausal women referred for routine osteoporosis screening. BMD was evaluated by dual-energy X-ray absorptiometry.Presence of carotid or femoral plaques was examined by ultrasonography. OPG was measured by enzyme immunoassay.Seventy-two subjects had low bone mass and were categorized as osteopenic (32) or osteoporotic (40). Fifty-two subjects had one or more atherosclerotic plaques at carotid or femoral level. Both lumbar spine and femoral BMD were associated with the number of plaques (r = −0.5370; p < 0.0001, and r = −0.4423; p = 0.0012, respectively), however only spine BMD remained significantly associated with the number of plaques after adjustment. OPG serum values showed a significant association with age (r² = 0.057; p = 0.042). The association between OPG and the number of plaques was significant only in patients with concomitant involvement of carotid and femoral districts (r² = 0.758; p < 0.0001).     

Changes in bone mineral density of the distal femur after total knee arthroplasty: A 7-year DEXA follow-up comparing results between obese and nonobese patients

Background and purposePeriprosthetic femoral bone mineral density (BMD, g/cm²) decreases after total knee arthroplasty (TKA) as a result of the stress-shielding phenomenon. It is not known whether obesity has an effect on this phenomenon or not. The aim of this study was to assess long-term periprosthetic BMD changes after TKA and compare whether there is a difference between obese and nonobese patients.MethodsA total of 69 TKAs in 61 patients were performed, and BMD measurements of the distal femur were followed up to 7 years postoperatively. The patients were divided into two study groups according to their body mass index, and the groups were compared in relation to BMD and functional outcome.ResultsThe mean of periprosthetic bone loss during the 7-year follow-up varied from 10.3% to 30.6% depending on the region of interest (p < 0.0005). The highest bone-loss rates were detected during the first three postoperative months. A total of 26 patients were categorized as obese with a body mass index value of ≥ 30 kg/m². The obese patients' total periprosthetic BMD was higher at both baseline (8.6%) and 7 years after operation (p = 0.05) (15.2%).ConclusionPeriprosthetic bone loss around the femoral component continued for up to 7 years postoperatively. The loss of bone density was not associated with any negative clinical outcome in this study, but periprosthetic bone loss was of a smaller quantity in the obese which is probably due to higher weight induced stresses on bone.     

Social networks for improving healthy weight loss behaviors for overweight and obese adults: A randomized clinical trial of the social pounds off digitally (Social POD) mobile app

ObjectiveTo test the efficacy of a weight loss mobile app based on recommender systems and developed by experts in health promotion and computer science to target social support and self-monitoring of diet, physical activity (PA), and weight (Social POD app), compared to a commercially available diet and PA tracking app (standard).Materials and methodsOverweight adults [N = 51] were recruited and randomly assigned to either the experimental group [n = 26; theory-based podcasts (TBP) + Social POD app] or the comparison group (n = 25; TBP + standard app). The Social POD app issued notifications to encourage users to self-monitor and send theory-based messages to support users who had not self-monitored in the previous 48 h. Independent samples t-test were used to examine group differences in kilograms lost and change in BMI. Analysis of covariance was used to analyze secondary outcomes while controlling for baseline values.ResultsParticipant attrition was 12% (n = 3 experimental and n = 3 comparison). Experimental group participants lost significantly more weight (−5.3 kg, CI: −7.5, −3.0) than comparison group (−2.23 kg, CI: −3.6, −1.0; d = 0.8, r = 0.4, p = 0.02) and had a greater reduction in BMI (p = 0.02). While there were significant differences in positive outcome expectations between groups (p = 0.04) other secondary outcomes (e.g., caloric intake and social support) were not significant.DiscussionUse of the Social POD app resulted in significantly greater weight loss than use of a commercially available tracking app. This mobile health intervention has the potential to be widely disseminated to reduce the risk of chronic disease associated with overweight and obesity.     

Role of left atrial speckle tracking echocardiography in predicting persistent atrial fibrillation electrical cardioversion success and sinus rhythm maintenance at 6 months

PurposeWe assessed the value of left atrium speckle tracking imaging (STI) indices, and clinical and other echocardiographic parameters in persistent atrial fibrillation (AF) patients to predict the efficacy of electrical cardioversion (EC) and sinus rhythm (SR) maintenance at 6 months.Material/methodsEighty persistent AF patients planned to receive EC, underwent echocardiography including STI. After 24 h, patients with successful EC were examined to predict SR maintenance. After 6 months patients with no AF recurrence in electrocardiogram (ECG) underwent 7-day ECG to exclude silent AF. Every AF > 1 min was a recurrence.ResultsSR restored in 61 patients, 19 unsuccessful. Prior use of statins (68.8% vs. 42.1%, p = 0.03) was the only factor, determined later by univariate analysis to be a significant EC success predictor (OR = 1.09, CL ± 95% 1.001–1.019, p < 0.03). Both groups received similar antiarrhythmics and had similar echocardiographic parameters. After 6 months, SR was maintained in 19 patients (31.1%, Group I); AF recurrences were registered in 42 patients (68.8%, Group II). In Group I, only the mitral valve deceleration time (MVDT) 224.18 ± 88.13 vs. 181.6 ± 60.6 in Group II, p = 0.04) and the dispersion of time to peak longitudinal strain (dTPLS) (86.0 ± 68.3 vs. 151.8 ± 89.6, p = 0.03) differed significantly. The univariate analysis revealed dTPLS as a significant predictor of SR maintenance.ConclusionHigh EC efficacy and frequent AF recurrences were observed. The dispersion of time to the maximal longitudinal strain (LS) of left atrial segments facilitated prediction of SR maintenance. The value of 7-day ECG monitoring for detection of arrhythmia after 6 months was limited.     

Effects of a continuous-combined regimen of low-dose hormone therapy (oestradiol and norethindrone acetate) and tibolone on the quality of life in symptomatic postmenopausal women: A double-blind,randomised study

ObjectiveThis study compared the effects of a continuous-combined regimen of low-dose hormone therapy (LD-HT) versus tibolone and supplemental calcium/vitamin D3 (control) on quality of life (QoL) in symptomatic postmenopausal women.DesignThis study was a prospective, randomised, double-blind, comparative trial with a control group.SettingThe study was conducted in a climacteric outpatient clinic in the University Hospital of Federal University of Juiz de Fora, Brazil.PopulationA total of 174 postmenopausal women under 60 years of age who attended the climacteric outpatient clinic between June 2009 and June 2011 were recruited. These women complained of moderate or intense vasomotor symptoms and exhibited no contraindications for the use of hormone therapy.InterventionsThe patients were randomised into three groups: (1) daily treatment with 2.5 mg tibolone (n = 64), (2) 50 mg calcium carbonate + 200 IU vitamin D3 (Ca/Vit D3, n = 54) or (3) 1 mg oestradiol + 0.5 mg norethindrone acetate (E2/NETA, n = 56) for 12 weeks.Primary outcome measuresThe primary outcome was the evaluation of QoL using the Women's Health Questionnaire (WHQ) in all subjects at baseline and after 4, 8 and 12 weeks of treatment.ResultsA total of 130 women in the following groups completed the study: tibolone (n = 42), Ca/Vit D3 (n = 44) and E2/NETA (n = 44). An improved QoL based on the WHQ was observed at T0 (80.12 ± 14.04, 77.73 ± 15.3, 77.45 ± 15.4) and T12 (57.0 ± 15.5, 55.7 ± 16.7, 58.4 ± 12.6) for the tibolone, E2 + NETA and Ca/Vit D3 groups, respectively (p values <0.05). The three groups exhibited significantly different scores at T12 for sexual behaviour and vasomotor symptoms. The tibolone group exhibited better sexual function compared with the E2/NETA and Ca/Vit D3 groups (4.2 ± 26, 5.6 ± 2.8, 5.4 ± 2.8, respectively, p values <0.05). LD-HT was superior to tibolone and Ca/Vit D3 treatment for improvements in vasomotor symptoms (3.2 ± 1.5, 4.0 ± 1.8, 4.3 ± 2.0, respectively, p values <0.05). Adverse effects were few and mild.ConclusionsAn improved QoL was observed in the three study groups. Tibolone primarily improved sexual function, and E2/NETA exhibited a superior response for vasomotor symptoms.     

Decreased bone mineral density in Costello syndrome

IntroductionCostello syndrome (CS) is a multisystemic disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, cognitive impairment, skin and musculo-skeletal anomalies, and predisposition to certain cancers. CS is caused by activating germline mutations in the HRAS proto-oncogene. Similar to what is observed in other RASopathies, CS causative HRAS mutations promote enhanced signal flow through the RAF–MEK–ERK and PI3K–AKT signaling cascades. While decreased bone mineralization has been documented in other RASopathies, such as neurofibromatosis type 1 and Noonan syndrome, systematic studies investigating bone mineral density (BMD) are lacking in CS.Materials and methodsDual-energy X-ray absorptiometry (DXA) was utilized to assess BMD and body composition (fat and fat-free mass) in a cohort of subjects with molecularly confirmed diagnosis of CS (n = 9) and age-matched control individuals (n = 29). Using general linear regression, subtotal body (total body less head), lumbar, femoral neck and femur BMD parameters were compared considering age, sex, body mass index (BMI) and Tanner stage. Blood and urine biomarkers of bone metabolism were also assessed.ResultsAll individuals with CS showed significantly lower mean values of subtotal, lumbar and femoral neck BMD compared to the control group (p ≤ 0.01). Similarly, mean total body mass and fat-free mass parameters were lower among the CS patients than in controls (p < 0.01). Low 25-OH vitamin D concentration was documented in all individuals with CS, with values below the reference range in two patients. No significant correlation between vitamin D levels and BMD parameters was observed.DiscussionCS belongs to a family of developmental disorders, the RASopathies, that share skeletal defects as a common feature. The present data provide evidence that, similar to what is recently seen in NF1 and NS, bone homeostasis is impaired in CS. The significant decrease in BMD and low levels of vitamin D documented in the present cohort, along with the risk for pathologic fractures reported in adult individuals with CS, testifies the requirement for a preventive treatment to alleviate evolutive complications resulting from dysregulated bone metabolism.     

Anterior cruciate ligament fixation: Is radial force a predictor of the pullout strength of soft-tissue interference devices?

BackgroundIn anterior cruciate ligament (ACL) reconstruction, an interference device achieves soft-tissue graft fixation by radially compressing the graft against the bone.PurposeThe objective of this study was to measure the radial force generated by different interference devices and evaluate the effect of this radial force on the pullout strength of graft-device constructs.Study DesignControlled laboratory study.MethodsA resultant force (F_R) was used as a representative measure of the total radial force generated. Bovine tendons were fixated in either synthetic bone or porcine tibia using one of following devices: (1) RCI titanium screw, (2) PEEK screw, (3) IntraFix sheath-and-screw device, and (4) ExoShape sheath-and-insert device. F_R was measured while each device was inserted into synthetic bone mounted on a test machine (n = 5 for each device). In a subsequent test series, graft-device constructs were loaded to failure at 50 mm/min. The pullout strength was measured as the ultimate load before failure (n = 10 for each device).ResultsThe F_R values generated during insertion into synthetic bone were 777 ± 86 N, 865 ± 140 N, 1313 ±198 N, and 1780 ± 255 N for the RCI screw, PEEK screw, IntraFix, and ExoShape, respectively. The pullout strengths in synthetic bone for the RCI screw, PEEK screw, IntraFix and ExoShape were 883 ± 125 N, 716 ± 249 N, 1147 ± 142 N, and 1233 ± 190 N, respectively.ConclusionsThese results suggest that the F_R generated during interference fixation affects the pullout strength with sheath-based devices providing superior F_R compared with interference screws. The use of synthetic bone was validated by comparing the pullout strengths to those when tested in porcine tibia.Clinical relevanceThese results could be valuable to a surgeon when determining the best fixation device to use in the clinical setting.     

Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

PurposeIncreased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model.MethodsWe assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests, practice cases, and clinical exercises. Pre- and post questionnaires assessed knowledge change, using t-tests to compare groups. Satisfaction on program completion and after 3 years were evaluated. Implementation in other centers determined acceptability.ResultsDuring 2012–2018, 774 clinicians from multiple disciplines and career stages attended 35 programs; 334 (43%) attended the 5-day extended format. Evaluations showed significant improvement of genomic literacy (mean 15.05/100 points, p < 0.001). Residents initially had higher scores than specialists (pre: 66.3 ± 17.3 vs. 58.7 ± 16.6, respectively, p = 0.002); both significantly improved, with specialists “catching up” (post: 79.1 ± 17.2 vs. 75.7 ± 15.9, nonsignificant (NS)); there was a similar trend between fellows and subspecialists (pre: 70 ± 18 vs. 59.4 ± 16.4, respectively, p = 0.007; post: 78.6 ± 16.4 vs. 73.2 ± 17.7, respectively, NS). Younger specialists (≤10 years residency) had significantly higher pre- and post scores. Absolute improvement in scores did not depend on medical specialties.ConclusionOur program is effective in improving genomics literacy for clinicians, irrespective of career length or expertise, and could be a model for improving skills in practical genomics for all medical professionals.     

Periprosthetic bone mineral density changes after unicondylar knee arthroplasty

BackgroundUnicompartmental knee arthroplasty (UKA) has received renewed interest in the last decade. UKA involves minor injury to soft tissues, limited removal of bone and delicate preservation of knee anatomy and geometry. In theory, UKA provides an opportunity to restore post-surgical knee kinematics to near normal.HypothesisUKA leaves patellofemoral joint free to meet high mechanical forces with no stress-shielding and therefore might preserve bone mineral density (BMD).Patients and methodsWe studied 21 patients with osteoarthritis(OA), who had received medial compartment UKA at Kuopio University Hospital between October 1997 and September 2000. BMD was measured by dual-energy X-ray absorptiometry (DEXA), at baseline (within a week after surgery) and at intervals until 7 years.ResultsDEXA results were reproducible. The highest rate of periprosthetic bone loss occurred during the first 3 months after UKA. The average loss in BMD was 4.4% (p = 0.039) in the femoral diaphysis and it ranged from 11.2% (p < 0.001) to 11.9% (p = 0.002) in the distal femoral metaphysis; however, BMD changes in these regions, from 2 years to 7 years, were nonsignificant. At the 1-year follow-up, the BMD of the medial tibial metaphysis had increased by 8.9% (p = 0.02), whereas those in the lateral tibial metaphysial (–2.4%) and diaphysial regions (–2.0%) did not change significantly.InterpretationsUKA did not preserve periprosthetic BMD in the distal femoral metaphysis, whereas BMD changes in the tibial metaphysis were minor, consistent with a mechanical balance between the medial and lateral tibial compartments.Level of Evidence 2bProspective case control study.     

The architecture of the ipsilateral quadriceps two years after successful anterior cruciate ligament reconstruction with bone–patellar tendon–bone autograft

BackgroundWe undertook a cross-sectional study to evaluate the pennation angle and muscle thickness of the vastus lateralis muscle in patients undergoing unilateral anterior cruciate ligament (ACL) reconstruction with bone–patellar tendon–bone autograft, and compared these values with the contralateral non-operated limb.MethodsTwenty three consecutive athletic males who underwent ACL reconstruction using the central third of the patellar ligament were evaluated at 25.9 ± 1.5 months. The International Knee Documentation Committee (IKDC) score was administered, and angles of pennation and muscle thickness were measured by ultrasonography.ResultsThere was no significant difference in the pennation angle of the operated leg comparing to the contralateral leg (12.5° ± 1.81° in the operated leg; 13.25° ± 2.40° after the test; p = 0.117). Quadriceps thickness in the operated leg was significantly decreased in all subjects compared to the contralateral leg (28.4 ± 5.3 mm in the operated leg; 32.7 ± 4.85 mm in the contralateral leg; p = 0.007).ConclusionsTwo years after surgery, there is no difference in pennation angle of the vastus lateralis when compared to the contralateral side in patients undergoing unilateral ACL reconstruction with bone–patellar tendon–bone autograft. There is a significant difference in quadriceps muscle thickness, which was less in the operated side on the operated side in all patients. Further studies are required to study the influence of muscle architecture on clinical outcome after ACL reconstruction surgery, and whether there are differences associated with the use of different grafts.Level of evidenceCase–control study; level IV.