Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

BACKGROUND: Incident hemodialysis patients have the highest mortality in the first several months after starting dialysis. This study evaluated the in-hospital mortality rate after hemodialysis initiation, as well as related risk factors. METHODS: We examined in-hospital mortality and related factors in 2,692 patients starting incident hemodialysis. The study population included patients with acute kidney injury, acute exacerbation of chronic kidney disease, and chronic kidney disease. To determine the parameters associated with in-hospital mortality, patients who died in hospital (nonsurvivors) were compared with those who survived (survivors). Risk factors for in-hospital mortality were determined using logistic regression analysis. RESULTS: Among all patients, 451 (16.8%) died during hospitalization. The highest risk factor for in-hospital mortality was cardiopulmonary resuscitation, followed by pneumonia, arrhythmia, hematologic malignancy, and acute kidney injury after bleeding. Albumin was not a risk factor for in-hospital mortality, whereas C-reactive protein was a risk factor. The use of vancomycin, inotropes, and a ventilator was associated with mortality, whereas elective hemodialysis with chronic kidney disease and statin use were associated with survival. The use of continuous renal replacement therapy was not associated with in-hospital mortality. CONCLUSION: Incident hemodialysis patients had high in-hospital mortality. Cardiopulmonary resuscitation, infections such as pneumonia, and the use of inotropes and a ventilator was strong risk factors for in-hospital mortality. However, elective hemodialysis for chronic kidney disease was associated with survival.
Acute Kidney Injury ; Arrhythmias, Cardiac ; C-Reactive Protein ; Cardiopulmonary Resuscitation ; Dialysis ; Hematologic Neoplasms ; Hemorrhage ; Hospital Mortality* ; Hospitalization ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Logistic Models ; Mortality ; Pneumonia ; Renal Dialysis* ; Renal Insufficiency, Chronic ; Renal Replacement Therapy ; Risk Factors* ; Vancomycin ; Ventilators, Mechanical

PURPOSE: The aim of the present study aimed to evaluate the effect of testosterone on cardiovascular disease by using the Framingham Risk Score (FRS) in patients with sexual dysfunction. MATERIALS AND METHODS: A total of 308 men with sexual dysfunction were enrolled in this study. Clinical assessments included the 15-item International Index of Erectile Function (IIEF), blood pressure measurement, and clinical laboratory indexes. The FRS, which predicts the incidence rate of cardiovascular diseases in the next 10 years, was calculated on the basis of age, gender, total cholesterol, smoking status, high density lipoprotein cholesterol, and systolic blood pressure. RESULTS: The mean age of the 308 enrolled patients was 49.42+/-10.73 years, and the patients' mean body mass index (kg/m2) was 25.07+/-3.14. The mean total IIEF score was 28.44+/-18.06. The median total testosterone concentration was 3.2 ng/mL (interquartile range [IQR]: 2.3~3.2 ng/mL). The median calculated free and bioavailable testosterone concentrations were 0.052 ng/mL (IQR 0.039~0.070 ng/mL) and 1.30 ng/mL (IQR: 1.00~1.76 ng/mL), respectively. The mean FRS was 10.47+/-6.45. The FRS tended to show a negative correlation with the total and calculated free testosterone levels, but this was not significant (p=0.064 and p=0.074, respectively). In the multiple linear regression analysis, a significant negative correlation was observed between the total testosterone level and the FRS (p=0.048). CONCLUSIONS: The results suggest that the testosterone level is related to the FRS and that a high testosterone level may decrease the risk of cardiovascular disease.
Blood Pressure ; Body Mass Index ; Cardiovascular Diseases* ; Cholesterol ; Cholesterol, HDL ; Humans ; Incidence ; Linear Models ; Male ; Smoke ; Smoking ; Testosterone*

PURPOSE: This study aimed at investigating sexual behavior patterns of elderly residents of urban areas in South Korea and their correlation with lower urinary tract symptoms. MATERIALS AND METHODS: From May, 2009 to October, 2009, 154 males and 299 females over 60 years old who visited senior welfare centers of Seoul were administered a questionnaire on sex life patterns and voiding symptoms. RESULTS: Among the 154 males, 59 (38.3%) had sexual intercourse at least one time per month. The remaining 95 males (61.7%) did not have sexual intercourse, because of impotence for 52 males (52.6%), no sexual desire for 28 males (29.4%), and sex partner's problems for 15 males (15.7%). The higher International Prostate Symptom Score was, the lower International Index of Erectile Dysfunction-5 was (p=0.035). Among 299 females, 37 (12.4%) had sexual intercourse at least one time per month. The remaining 262 females (87.6%) did not have sexual intercourse, because of no spouse for 163 females (63.2%), no sexual desire for 48 females (18.6%), the spouse's impotence for 34 females (13.2%), and the spouse's bad health for 10 females (3.9%). It was found that self-diagnosis of overactive bladder affects sex life negatively. CONCLUSIONS: The sexual behaviors of the elderly included varying activity. Sexual intercourse were significantly associated with lower urinary tract symptoms. Our results suggest that the counseling with the elderly about sexual health is as important as it is with non-elderly individuals.
Aged ; Coitus ; Counseling ; Erectile Dysfunction ; Female ; Humans ; Lower Urinary Tract Symptoms ; Male ; Prostate ; Surveys and Questionnaires ; Reproductive Health ; Republic of Korea ; Sexual Behavior ; Spouses ; Urinary Bladder, Overactive ; Urinary Tract

OBJECTIVE: The etiology and pathogenesis of moyamoya disease remain unclear. Furthermore, the definitive diagnostic protein-biomarkers for moyamoya disease are still unknown. The present study analyzed serum proteomes from normal controls and moyamoya patients to identify novel serological biomarkers for diagnosing moyamoya disease. METHODS: We compared the two-dimensional electrophoresis patterns of sera from moyamoya disease patients and normal controls and identified the differentially-expressed spots by matrix-assisted laser desorption/ionization-time-of flight mass spectrometry and electrospray ionization quadruple time-of-flight mass spectrometry. RESULTS: We found and analyzed 22 differently-expressed proteomes. Two proteins were up-regulated. Twenty proteins were down-regulated. Complement C1 inhibitor protein and apolipoprotein C-III showed predominantly changed expressions (complement C1 inhibitor protein averaged a 7.23-fold expression in moyamoya patients as compared to controls, while apolipoprotein C-III averaged a 0.066-fold expression). CONCLUSION: Although our study had a small sample size, our proteomic data provide serologic clue proteins for understanding moyamoya disease.
Apolipoprotein C-III ; Biomarkers ; Complement C1 Inhibitor Protein ; Electrophoresis ; Humans ; Mass Spectrometry ; Moyamoya Disease ; Proteins ; Proteome ; Sample Size

Objective To determine the diagnostic value of double-phase enhancement and virtual endoscopy with multi-slice spiral CT (MSCT) on clinical staging of preoperative bladder cancer.Methods Seventy-five patients with bladder cancer diagnosed by fibercystoscope or operation. All of them were examined by double-phase enhancement and virtual endoscopy with MSCT. The images were analyzed and clinical staging were obtained. The findings of MSCT (71 cases)were compared with the post-operative histopathological results. Results There were 94 lesions to be found. The staging of MSCT: T1 26 cases,T2, 27 cases, T2b 13 cases, T3 12 cases, T4 16 cases. Histopathological results: pT1 28 cases, pT2a 24 cases, pT2b 14 cases, pT3 12 cases, pT4 16 cases. The sensitivity of preoperative staging on bladder cancer was 89.4 % (84/94) by double-phase enhancement of MSCT;the sensitivity of virtual endoscopy was 96.6% (84/87)for polyploidy tumors and 90. 9 % (10/11) for sessile lesions. When double-phase enhancement and virtual images were evaluated together, the sensitivity rate increased to 94.5%. When the tumors were confined within the bladder wall (≤T2b), the diagnostic accuracy of double-phase enhancement and virtual images was 91.2% (51/56). When the tumors had invaded the tissues and organs beyond the bladder wall (≥T3), the accuracy was 100% (28/28). Conclusion Double-phase enhancement and virtual endoscopy of MSCT is of great value in clinical staging of bladder cancer.

PURPOSE: To evaluate the relationship between optic disc and retinal nerve fiber layer (RNFL) measurements obtained with the optical coherence tomography (OCT) and the Heidelberg retina topography (HRT) in normal, normal tension glaucoma (NTG), and high tension glaucoma (HTG). METHODS: Normal, NTG and HTG subjects who met inclusion and exclusion criteria were evaluated retrospectively. One hundred seventy eyes of 170 patients (30 normal, 40 NTG, and 100 HTG) were enrolled. Complete ophthalmologic examination, HRT, OCT, and automated perimetry were evaluated. RESULTS: Disc area, cup area and cup/disc area ratio measured with HRT were significantly different between NTG and HTG (all p<0.05). Mean RNFL thickness measured by OCT with ascanning diameter of 3.4 mm was larger in NTG than HTG (84.97+/-24.20 micrometer vs. 73.53+/-27.17 micrometer, p=0.037). Four quadrant RNFL thickness measurements were not significantly different between NTG and HTG (all p>0.05). Mean deviation and corrected pattern standard deviation measured by automated perimetry was significantly correlated with mean and inferior RNFL thickness in both NTG and HTG (Pearson's r, p<0.05). Mean RNFL thickness/disc area ratio was significantly larger in HTG than NTG (35.21+/-18.92 vs. 31.30+/-10.91, p=0.004). CONCLUSIONS: These findings suggest that optic disc and RNFL damage pattern in NTG may be different from those of HTG.
Adult ; Aged ; Axons/*pathology ; *Diagnostic Techniques, Ophthalmological ; Female ; Glaucoma, Open-Angle/*diagnosis ; Humans ; Male ; Middle Aged ; Ocular Hypertension/diagnosis ; Optic Disk/*pathology ; Optic Nerve Diseases/*diagnosis ; Perimetry ; Retinal Ganglion Cells/*pathology ; Retrospective Studies ; *Tomography, Optical Coherence ; Visual Fields