Predictive value of fracture risk assessment tool for determining fracture probabilities in middle aged and elderly patients with type 2 diabetes / 中华老年医学杂志

Objective To evaluate the predictive value of fracture risk assessment tool (FRAX) for determining fracture probabilities in middle-aged and elderly patients with type 2 diabetes.Methods Retrospective analysis was carried out on 153 type 2 diabetic patients aged over 50 years undergoing dual energy X-ray absorptiometry measurements.Fracture risk factors including age,gender,height,weight,body mass index,history of previous fragility fractures,parental history of hip fracture,history of smoking,excessive drinking,long-term use of steroid hormone,history of rheumatoid arthritis,the history of secondary osteoporosis diseases,and femoral neck T-score of bone mineral density (BMD) were recorded.FRAX scores with BMD (FRAX/BMD) and without BMD (FRAX/-) were calculated.Therapeutic interventions were recommended if the 10-year risk of fractures was more than 3％ for hip osteoporotic fractures and more than 20％ for other major fractures.Subjects were separated into the identical treatment recommendation group and the different treatment recommendation.Fracture risk factors were compared between groups.Results 133 (6.9 ％) patients had identical fracture risk predictions in the FRAX calculation,regardless of whether BMD join in or not.Age,gender and femoral neck T scores had significant differences between the two groups (all P＜0.001),while other risk factors had no statistical differences between the two groups (all P＞0.05).Conclusions In most middle-aged and elderly patients with type 2 diabetes,the FRAX/-provides the same prediction as FRAX/BMD value for predicting fracture risk,which shows that fracture risks can be predicted without bone density examination.The FRAX/-has higher predictive values on fracture for people who are younger,male,and has higher BMD.

Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling.</p><p><b>METHODS</b>Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations.</p><p><b>RESULTS</b>A heterozygous deletional mutation c.649_651delAGA in exon 7 of the MITF gene has been identified in all patients from the first family, while no mutation was found in the other WS2 related genes including PAX3, MITF, SOX10 and SNAI2.</p><p><b>CONCLUSION</b>The heterozygous deletion mutation c.649_651delAGA in exon 7 of the MITF gene probably underlies the disease in the first family. It is expected that other genes may also underlie WS2.</p>

Plasma brain natriuretic peptide levels in elderly male patients with type 2 diabetes and primary osteoporosis / 中华老年医学杂志

Objective To evaluate plasma natriuretic peptide brain (BNP) levels in elderly male patients with type 2 diabetes and primary osteoporosis.Methods A total of 122 elderly male patients with type 2 diabetes were divided into 3 groups according to bone mineral density(BMD):normal group (41 cases),osteopenia group (40 cases) and osteoporosis group (41 cases),and another 33 age matched healthy subjects as control group.Plasma BNP levels were determined by ELISA.Results Plasma BNP levels in osteoporosis group [(1.95 ± 0.49) pmol/L] and osteopenia group [(1.64±0.48) pmol/L] were significantly elevated compared with that in normal group [(1.32±0.38) pmol/L] and control group [(1.26±0.39) pmol/L] (all P＜0.01).There was a statistical difference between osteoporosis group and osteopenia group (t=3.539,P＜0.05),and also between normal group and control group (t=2.726,P＜0.05).Plasma BNP levels had negative correlation with BMD of 2na-4th lumbar vertebra (r=-0.366) and femoral neck (r=-0.375),body mass index (r=-0.288) and estrodiol (E2) (r=-0.352) (all P＜0.05); while had a positive correlation with parathyroid hormone (PTH) (r=0.353,P＜0.05).Conclusions With BMD declining,plasma BNP levels are elevated in elderly male type 2 diabetes,which may be related to the compensatory increase in PTH and the decrease in estradiol.

Association of osteoporosis and coronary artery calcification in elderly patients with type 2 diabetes mellitus / 中华老年医学杂志

Objective To investigate the association of osteoporosis and coronary artery calcification in elderly patients with type 2 diabetes mellitus (T2DM).Methods A total of 82 elderly T2DM patients underwent dual-energy x-ray absorptiometry scanning (DXA) of lumbar spine and femur neck for getting bone mineral density (BMD),and dual-source computed tomography (DSCT) of coronary artery for calculating calcification score and total calcification score (TCS).All subjects were divided into two groups:osteoporosis group and non-osteoporosis group.The levels of serum calcium (Ca),parathyrin (PTH),phosphorus (P),alkaline phosphatase (AKP),triglyceride (TG),total cholesterol (TC),high density lipoprotein-cholesterol (HDL-C),low density lipoproteincholesterol (LDL-C) and glycosylated hemoglobin (HbA1c) were detected.Results Compared with non-osteoporosis group,the levels of serum Ca,PTH and TCS were higher [(2.32± 0.15)mmol/L vs.(2.04±0.20) mmol/L;(5.64±1.97) pmol/L vs.(5.01±1.93) pmol/L;(374.4±433.5) scores vs.(242.5±224.8) scores,t=5.790,5.331 and 2.248,all P<0.05] in osteoporosis group.Correlation analysis showed TCS was negatively associated with BMD of L2-4 and femur neck,while was positively associated with serum Ca and PTH (r=0.310,0.246,0.290,0.284 and 0.324,0.575 all P<0.05).Conclusions Osteoporosis is associated with coronary atherosclerosis.TCS could be considered as an index for judging the relationship between osteoporosis and coronary atherosclerosis.