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Objective To summarize the clinical phenotype profiles and mitochondrial DNA mutation in maternally inherited diabetes and deafness ( MIDD ) , and to improve the diagnosis and treatment of this disease in clinical practice. Methods Sixteen patients with MIDD in six families from Peking Union Medical College from 2007 to Dec 2014 were confirmed as carrying the mitochondrial ( mt) DNA 3243 A to G mutation. Sanger sequencing was used to detect the mt DNA 3243 A to G mutation. The peak height G/A ratio was used to determine mutation heteroplasmy levels. Results The patients with early onset of diabetes (35. 0 ± 14. 6 years), deafness, normal or lower body mass index ( BMI) , and maternal hereditary tendency suggested the diagnosis of MIDD. The peak height G/A ratio was significantly different according to the onset age of MIDD [≤25 years (61. 6 ± 20. 17)%;25-45 years (16.59±8.64)%;>45 years(6.37±0.59)%;P<0.01]. The peak height G/A ratio was negatively correlated with the onset age of MIDD(r=-0. 785,P=0. 001). Conclusion Early onset of diabetes with deafness, normal/lower BMI, and maternal hereditary tendency strongly suggests the diagnosis of MIDD. The peak height G/A ratio might provide a simple prediction regarding the onset age and severity of MIDD.
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Objective To investigate the prevalence of hyperuricemia in health check-up population of Beijing suburb.Methods Total 1 336 rural residents in Nankou Township of Beijing received health check-up from July to Aug 2014,including 686 subjects aged 20-59 years (young/middle-aged group) and 650 subjects aged 60-96 years (elderly group).The blood pressure and body mass index (BMI) were measured;serum uric acid (SUA),fasting blood glucose (FBG) and blood lipids (TG,TC,HDL-C,LDL-C) were determined.The SUA levels ＞ 420 μmol/L for male and ＞ 360 μmol/L for female were defined as hyperuricemia.Results The four quartiles of SUA levels were 27.00-254.59 μmol/L (Q1),254.60-302.35 μmol/L (Q2),302.36-359.78 μmol/L(Q3) and 359.79-702.0 μmol/L (Q4).The prevalence of hyperuricemia was significantly higher in young/middle-aged group than that in elderly group [20.41％ (140/686) vs.13.85％ (90/650),x2 =10.08,P =0.001 5],the systolic blood pressure [SBP,(126.8±15.7) vs.(116.7±12.0)mmHg(1 mmHg=0.133 kPa),t=2.76,P=0.008],FBG [(7.40±4.10) vs.(6.11 ±2.03)mmol/L,t=2.12,P=0.036],TC [(5.52±1.10) vs.(5.23±1.00)mmol/L,t =2.04,P =0.045],LDL-C [(3.5 ±0.7) vs.(2.4 ±0.9)mmol/L,t =2.21,P =0.029]in young/middle-aged group were significantly higher than those in elderly group.BMI,FBG were significantly higher in Q4 than those in other quartiles [BMI:(26.44 ± 3.88) vs.(24.19 ± 3.37),(25.49±3.42) and (25.61 ±3.49)kg/m2,t =2.78,P=0.008;FBG:(8.19 ±1.52) vs.(6.34±1.34),(6.09 ± 1.51) and (6.40 ± 1.98) mmol/L,t =2.80,P =0.007].The triglyceride (TG) levels in group Q3 and Q4 [(1.85 ± 0.90) and (1.92 ± 0.44) mmol/L] were higher than those in Q1 and Q2 [(1.37 ±0.76) and (1.70 ±0.84) mmol/L,t =2.1,P =0.035].Only 9.57％ subjects (22/230)with hyperuricemia was not combined with metabolic disorder;subjects combined with one and two metabolic disorders accounted for 20.87％ (48/230) and 69.57％ (160/230),respectively.Conclusion Screening for hyperuricemia is important for comprehensiye treatment and management of hyperuricemia in rural residents,especially in the young and middle-aged population.
ABSTRACT
Objective To evaluate the effect of the needle free injection system (INJEX30) and insulin pen on insulin absorption and glycemic control in diabetic patients.Methods A total of 30 diabetic patients on insulin therapy without obvious complications were enrolled in the study with average BMI of 25.24 kg/m2.A comparison study was carried out in those subjects with the INJEX30 and insulin pen at 1 st day and 5th day.After an overnight fasting of 8-10 h,a standard mixed meal(50 g bread,50 g egg and 250 ml milk) was given to each patient.Blood samples at 0,20,40,60 min of the standard mixed meal were collected to test plasma glucose,serum insulin and C peptide.Results No difference was shown in fasting plasma glucose,serum insulin and C peptide between the patients with the two injection methods.The area under the curve (AUC) of plasma glucose and serum C peptide was significantly lower after the INJEX30 injection than that after insulin pen injection [plasma glucose AUC (542 ± 172) min · mmol · L-1 vs (601 ±199) min· mmol · L-1,P ＜0.01; C peptide AUC (70 ±53) min · μg · L-1 vs (80 ±58) min · μg · L-1,P ＜0.01].The AUC of serum insulin was significantly higher after the INJEX30 injection than that after insulin pen injection [serum insulin AUC(5621 ± 3790) min · mIU · L-1 vs(4285 ± 3376) min · mIU · L-1,P ＜0.01].No difference was found in the AUC of serum insulin between the two injection methods in the patients with BMI below 25.24 kg/m2,while the AUC of serum insulin was significantly higher after the INJEX30 injection than the insulin pen injection in the patients with BMI above 25.24 kg/m2 [serum insulin AUC(6453 ± 4099) min · mIU · L-1 vs (4879 ± 3701) min · mIU · L-1,P ＜0.01].Conclusion The INJEX30 improves the serum insulin level which may lead to a beneficial effect on the glycemic control.Such effect is more obvious in the overweight patients.