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Objective@#To explore the genotypes and phenotypes of osteogenesis imperfecta (OI) in Xinjiang Uygur children.@*Methods@#The history of nine Uygur children with OI who were hospitalized in First Affiliated Hospital of Xinjiang Medical University from January 2013 to December 2017 were retrospectively reviewed. They were classified into 4 types according to the classical Sillence classification. The genes associated with OI were detected, and the pathogenic variation was assessed by InterVar and Alamut software according to the American College of Medical Genetics and Genomics (ACMG) recommendations. The phenotypes of children with different genotypes were further analyzed.@*Results@#Nine cases aged 3 years and 6 monthes to 15 years were all clinically diagnosed as OI, the clinical manifes tations were repeated fractures, skeletal deformities,short stature, blue sclera, abnormol hearing, hypoplasia of dentin, and relaxation of Joint ligaments, among whom 6 was type Ⅲ OI, 3 were type Ⅳ OI. Nine mutations in 3 genes (COL1A1, COL1A2, and SERPINF1) were detected, and 5 of them were first reported and were all pathogenic variations.@*Conclusions@#The cinical phenotypes of osteogenesis imperfecta in Xinjiang Uygur are complex and varied, but all of them have fractures and skeletal deformities. Genotype is different from that reported at China and abroad, and the SERPINF1 gene may have a higher incidence in Uyghur population. The genetic heterogeneity and unique gene variation pedigree of Uyghur osteogenesis imperfecta defects further provide a basis for the correlation between genotype and phenotype of osteogenesis defects.
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Objective To reveal pathogenesis and etiology in adrenal incidentaloma. Methods The clinical data of 116 patients with adrenal incidentaloma from January 1, 2015 to January 1, 2017 were retrospectively analyzed. Results In 116 patients with adrenal incidentaloma, 49 cases (42.2％) were male and 67 cases (57.7％) were female; there were 14 cases (12.1％) aged from 20 to 40, 63 cases (54.3％) aged from 40 to 60, and 39 cases (33.6％) > 60 years. Forty-three patients (37.1％) were found by health examination, 26 patients (22.4％) were found because of hypertension, 27 patients (23.3％) were found by CT detection because of other diseases, and 20 cases (17.2％ ) were found because of other reasons. The result of endocrine function examination showed that nonfunctioning adrenal tumor was in 56 cases (48.3％); functional adrenal tumor was in 44 cases (37.9％), among whom primary aldosteronism was in 27 cases, Cushing syndrome was in 10 cases, and pheochromocytoma was in 7 cases;nonfunctioning non- adenoma was in 16 cases (13.8％ ). Conclusions It is frequent that the adrenal incidentaloma is found by health examination. The patients with adrenal incidentaloma should examine the endocrine function and identify the benign or malignant. And if necessary, surgical treatment should be performed.
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Objective To determine the influence of gender on the association between serum uric acid and branchial-ankle pulse wave velocity (baPWV).Methods Cross-sectional data from 1418 adults who underwent routine laboratory tests and baPWV measurements were analyzed in a gender-specific manner.BaPWV≥ 1400 cm/s was defined as abnormality.The individuals were assigned to four groups (Q1,Q2,Q3 and Q4) according to the gender-specific quartiles of serum uric acid.The relationship between serum uric acid and the baPWV values was assessed by Spearman's correlation coefficients.In female,the relationship of serum uric acid quartiles with baPWV was evaluated by logistic regression analysis.Results In male and female,diastolic blood pressure,fasting blood glucose,triglyceride and body mass index were increased with serum uric acid level,in contrast to high-density lipoprotein cholesterol.The Spearman's correlation coefficient for the relationship between serum uric acid and baPWV was 0.18 in female and-0.05 in male (P =0.16).In female,univariate logistic regression analysis showed that in comparison with group Q1,odds ratio (OR) value of baPWV abnormality of group Q4 was 2.45 (95％confidence interval (CI) 1.48 to 4.06).In multivariate logistic regression,after adjusting for creatine and estimated glomerular filtration rate,OR value of baPWV abnormality of group Q4 was 2.45 (95％ CI 1.48 to 4.06) when compared with group Q1.However,after adjustment for age and other risk factors of cardiovascular diseases,there were no significant differents in ORs among serum uric acid quartile groups.Conclusions The association between serum uric acid level and baPWV in female may depend on age and metabolic syndrome components.
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Objective To determine the relationship between normal weight obesity (NOW) and cardiovascular risk factors.MethodsA total of 940 adults who received a health examination in out hospital were recruited in a cross-sectional study,and 407 with a body mass index (BMI) of18.5 to 25 kg/m2were enrolled for further analysis.Body fat percentage ( BF％ ) was measured by bioelectrical impedance analysis (BIA),and the subjects were assigned to the NOW group ( BF％ ≥25％ for male or BF％ ≥35％for female) or the control group ( BF％ ＜ 25％ for male or BF％ ＜ 35％ for female).Cardiovascular risk factors and their detection rates were compared between the two groups by using independent sample t test and x2 test.The correlationbetweenNOW and cardiovascular risk factors was assessedbylogistic regression.Results The prevalence of NOW in men and women were13.1％ and14.9％,respectively.The prevalence of NOW was increased with age ( x2 =6.90,P ＜0.05 ).Systolic blood pressure (SBP),diastolic blood pressure ( DBP ),total cholesterol ( TC ),triglycerides ( TG ),low-density lipoprotein cholesterol ( LDL-C) and serum uric acid (SUA) were significantly increased in the NOW group (t values were 2.97,2.44,2.54,5.09,2.71and 3.91,respectively; all P ＜ 0.05 ) ; whereas high-density lipoprotein cholesterol ( HDL-C) was significantly decreased in the NOW group (t =-3.90,P ＜ 0.05 ).The prevalence of hypertension,hyperglycemia,high triglyceride,low HDL-C,dyslipidmia and hyperuricemia was increased in the NOW group in comparison with the control group ( x2 values were 6.76,5.58,14.50,11.97,10.97 and 8.76,respectively;allP＜ 0.05 ).LogisticregressionshowedNOWincreasedtheriskof hypertension,hyperglycemia,dyslipidmia or hyperuricemia by 2.186,2.120,2.088 or 4.175 times.After adjustment for age and gender,the risk for hyperuricemia was decreased to 3.491,but remained statistically significant higher.Conclusions NOW may be correlated with cardiovascular risk factors,and those with NOW could be at higher risk for cardiovascular diseases.
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ObjectiveTo develop a simple scoring system to identify individuals with higher risk of type 2 diabetes mellitus ( T2DM ).Methods Major risk factors of T2DM were fixed after literature review.Logistic regression was used to select risk factors of T2DM.Target populations were randomly assigned to 2 groups,and group A was used for the development of risk factor scoring method and group B for the confirmation of this new method.Results The threshold for T2DM risk was 65.0 for men and 65.5 for women ( sensitivity 90.6％ and 83.3％,respectively; specificity 89.4％ and 97.7％,respectively ; positive predictive value 58.8％and 80.0％,respectively;negative predictive value 98.3％and 98.2％,respectively ; area under the curve 0.955 and 0.899,respectively).There was significant difference of T2DM detection between screening and risk scoring system ( P =0.000 ).Conclusion Our T2DM risk scoring system may provide an effective tool to identify individuals with a higher risk of developing T2DM.
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Objective To evaluate the relationship of metabolic syndrome (MS) and MS components with thyroid nodule. Methods A total of 10 357 subjects ( age ＞ 18 years old) who received physical checkup at the Second Affiliated Hospital of Dalian Medical University between June 2009 and June 2010 were enrolled in this retrospective study. Anthropometric parameter, fasting plasma glucose (FPG),serum lipid profile, blood uric acid, alanine aminotransferase and thyroid ultrasonography were measured. Results The prevalence of thyroid nodule,MS,and thyroid nodule + MS was 46. 96% ,23. 6%,and 11.6%, respectively. The prevalence of thyroid nodule was significantly higher in MS patients than in non MS patients ( 75.9% vs 38. 0%, P ＜ 0. 05 ). Multifactor logistic analysis showed that MS, body mass index (BMI) and FBG (β vales were 0. 78,1.22,and 0. 62,respectively; odds ratios were 4. 167,3. 876,and 2. 359, respectively; all P ＜ 0. 05 ) were independently correlated with the development of thyroid nodule. Conclusions Significantly increased prevalence of thyroid nodule could be found in MS patients. BMI and FBG may be independent risk factors of thyroid nodule.
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Objective To study the levels of senlm uric acid(UA)in normal glucose(NC),impaired glucose regulation(IGR)and type 2 diabetes mellitus(T2DM),and investigate its relationship with insulin resistance and dyslipidemia.Method The levels of blood glucose,lipids,fasting insulin(HNS)and serum UA were measured in patients of 45 T2DM(T2DM group),20 IGR(IGR group)and 29 NC(NC group).Status of insulin resistance and insulin secretion function was evaluated by HOMA-IR and ISI.Results The levels of triglyceride(TG)and UA in T2DM group and IGR group were significantly higher than those in NC group[(3.34±8.77),(1.85±0.67),(1.26±0.38)mmoi/L and(316.71±96.20),(403.62±76.80),(325.45±94.43)mmol/L](P<0.01).HDL-C levels in T2DM group were significantly lower than those in IGR and NC group[(1.05±0.30),(1.07±0.21),(1.12±0.20)mmol/L](P<0.01).NO significant difference of FINS levels was found in the three groups.HOMA-IR level in T2DM and IGR group was higher than that in NC group(3.84,3.77,2.34)(P<0.01).ISI in T2DM and IGR group was lower than that in NC group(-4.52±0.79,-4.44±0.19,-4.03±0.58)(P<0.01).Correlation analysis indicated that the level of UA was positively related with BMI.TG and negatively related with HDL-C.Conclusion Increased UA in IGR indicates that hyperurieacidemia developes before DM.
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AIM: To investigate the effects of testosterone on endothelial function and intimal proliferation after balloon injury in male rabbit abdominal aorta. METHODS: 24 male New Zealand white rabbits were divided randomly into three groups: control group ( n =8, sham castration), hypotestosteronemia group ( n =8,castration) and testosterone replacement group (n =8,castration +testosterone undecanoate intramuscular injection,14 mg/kg). Abdominal aorta was injured with 3 mm PTCA balloon after testosterone undecanoate had been injected for three days. Two weeks later, blood samples were obtained for detection of plasma testosterone, lipids, metabolic product of nitric oxide (NO - 2/NO - 3), superoxide dismutase(SOD) and malondialdehyde (MDA),and all the abdominal aorta were excised to be analyzed by computer. RESULTS: The intimal area of hypotestosteronemia group were significantly larger than that of other two groups( P