Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective:To investigate the association between levator hiatus area, pelvic organ prolapse quantification (POP-Q) examination and prolapse symptoms.Methods:The prospective multicenter study enrolled 996 female patients between January 2017 and January 2019. All enrolled patients underwent a standard clinical interview, POP-Q examination and transperineal ultrasound examination. Volume data of pelvic floor ultrasound examinations were obtained at rest, during contraction and during maximal Valsalva maneuver. The association between levator hiatus area, POP-Q examination and prolapse symptoms was analyzed. The performance of levator hiatus area on maximal Valsalva for assessing significant POP(POP-Q stage≥2) and prolapse symptoms were also evaluated.Results:There were significant differences of levator hiatus area at rest, during contraction and during maximal Valsalva among patients with different POP-Q stages (all P<0.001). Levator hiatus area during maximal Valsalva showed the highest correlation with abdominal dragging sensation ( r=0.277, P<0.001). The area under the ROC curve (AUC) of levator hiatus area during maximal Valsalva for significant POP (POP-Q stage≥2) was significantly higher than that for prolapse symptoms (AUC: 0.77 vs 0.69, P<0.001). Conclusions:Levator hiatus area on transperineal has moderate correlation with POP-Q examination and their association is stronger than the correlation between ultrasound findings and prolapse symptoms.

Objective:To investigate the feasibility of transperineal ultrasound in quantitative assessment of posterior compartment prolapse among Chinese women.Methods:The prospective multicenter study enrolled 485 women between January 2017 and January 2019. All patients underwent a standard clinical interview, pelvic organ prolapse quantification (POP-Q) examination and transperineal ultrasound examination. Volume data of transperineal ultrasound examinations were obtained at rest and in maximal Valsalva maneuver.Results:The higher POP-Q stage of posterior compartment, the lower rectal ampulla position in maximal Valsalva maneuver (POP-Q stage=0 vs POP-Q stage=1, P<0.001; POP-Q stage=1 vs POP-Q stage≥2, P<0.001), and the greater rectal ampulla hypermobility (POP-Q stage=0 vs POP-Q stage=1, P<0.001; POP-Q stage=1 vs POP-Q stage≥ 2, P=0.007). The rectal ampulla position at rest and in maximal Valsalva maneuver and rectocele depth were correlated with prolapse symptoms ( r=-0.200, P<0.001; r=-0.252, P<0.001; r=0.086, P=0.045). The corresponding cut-off values of rectal ampulla position in maximal Valsalva in diagnosing posterior compartment prolapse (POP-Q stage ≥1) and clinical significant posterior compartment prolapse (POP-Q stage ≥2) were 7.32 mm below the symphysis pubis and 12 mm below the symphysis pubis, respectively, with the area under the ROC curve as 0.75 and 0.85, respectively. Conclusions:The ultrasonic measurements by transperineal ultrasound is significantly associated with POP-Q examination in posterior compartment, and it is demonstrated as a useful tool in quantitative assessment of the severity of posterior compartment prolapse.

Objective To evaluate the clinical value of holographic image navigation in urological laparoscopic and robotic surgery.Methods The data of patients were reviewed retrospectively for whom accepted holographic image navigation laparoscopic and robotic surgery from Jan.2019 to Dec.2019 in Beijing United Family Hospital and other 18 medical centers,including 78 cases of renal tumor,2 cases of bladder cancer,2 cases of adrenal gland tumor,1 cases of renal cyst,1 case of prostate cancer,1 case of sweat gland carcinoma with lymph node metastasis,1 case of pelvic metastasis after radical cystectomy.All the patients underwent operations.In the laparoscopic surgery group,there were 27 cases of partial nephrectomy,1 case of radical prostatectomy,2 cases of radical cystectomy and 2 cases of adrenalectomy.In the da Vinci robotic surgery group of 54 cases,there were 51 cases of partial nephrectomy,1 case of retroperitoneal lymph node dissection,1 case of retroperitoneal bilateral renal cyst deroofing and 1 case of resection of pelvic metastasis.There were 41 partial nephrectomy patients with available clinical data for statistic,with a median age of 53.5 years (range 24-76),including 26 males and 15 females.The median R.E.N.A.L score was 7.8 (range 4-11).Before the operation,the engineers established the holographic image based on the contrast CT images and reports.The surgeon applied the holographic image for preoperative planning.During the operation,the navigation was achieved by real time fusing holographic images with the laparoscopic surgery images in the screen.Results All the procedures had been complete uneventfully.The holographic images helped surgeon in understanding the visual three-dimension structure and relation of vessels supplying tumor or resection tissue,lymph nodes and nerves.By manipulating the holographic images extracorporeally,the fused image guide surgeons about location vessel,lymph node and other important structure and then facilitate the delicate dissection.For the 41 cases with available clinical data including 23 cases of robotic-assisted partial nephrectomy and 18 cases of laparoscopic nephrectomy,the median operation time was 140 (range 50-225) min,the median warm ischemia time was 23 (range 14-60) min,the median blood loss was 80(range 5-1 200) ml.In the robotic surgery group,the median operation time was 140 (range 50-215)min,the median warm i schemia time was 21 (range 17-40)min,the median blood loss was 150(range 30-1 200)ml.In the laparoscopic surgery group,the median operation time was 160(range 80-225)min,the median warm ischemia time was 25 (range 14-60)min,the median blood loss was 50 (range 5-1 200) ml.All the patients had no adjacent organ injury during operation.There were 2 cases with Clavien Ⅱ complications.One required transfusion and the other one suffered hematoma post-operation.However,the tumors were located in the renal hilus for these 2 cases and the R.E.N.A.L scores were both 11.Conclusions Holographic image navigation can help location and recognize important anatomic structures during the surgical procedures..This technique will reduce the tissue injury,decrease the complications and improve the success rate of surgery.

The value of the left atrial volume tracking (LAVT) method in the evaluation of left atrial (LA) function in patients with diabetes mellitus (DM) was examined in this study. Fifty-eight DM patients as DM group and 40 healthy people as normal control group were enrolled in this study. EUB-6500 echocardiographic imaging system with LAVT was applied to display and analyze the LA volume curve imaging on LV apical two and four chamber views. The maximal LA volume at end-systole (LAV(max)), LA volume at the onset of ECG-P wave (LAV(p)), the minimal LA volume at end-diastole (LAV(min)) from the LA volume curve were acquired and recorded. All values above were standardized by body surface area (BSA). Then the passive, active and total LA volume (LAVIpass, LAVIact, LAVItotal) and empting rate (%LAVIpass, %LAVIact, %LAVItotal), effective passive and active empting rate (%eLAVIpass, %eLAVIact), and the proportionality of passive empting volume and active empting volume were calculated. The LAVIp, LAVIact, LAVItotal, %LAVIact, %LAVItotal and %eLAVIact were significantly higher in the DM group than those in the control group, whereas the LAVIpass, %LAVIpass, %eLAVIpass and LAVIpass/act were lower (all P<0.05). For the LA volume change in DM, the active empting volume was enhanced at end-diastole. It was concluded that LAVT is a potentially useful tool to evaluate the function of LA.
Adult ; Aged ; Atrial Function, Left ; physiology ; Case-Control Studies ; Diabetes Mellitus, Type 2 ; physiopathology ; Echocardiography, Doppler ; methods ; Female ; Heart Atria ; diagnostic imaging ; pathology ; Humans ; Male ; Middle Aged ; Organ Size

Objective To measure the financial burden incurred by hypertension to urban patients in Beijing, Nanjing and Hangzhou cities. Methods Two communities were sampled from the three cities randomly, and 300 hypertension patients were sampled randomly from hypertension control files in each community for questionnaire survey. Results Health expenditure of the families with hypertension patients accounts for 14. 4% of the family's income, and 18. 2% of the family's expenditure, a ratio far beyond the national average (10.6 %). However, the majority of them report the burden as affordable.The basic medical insurance for urban residents helps alleviate the financial burden of hypertension patients and the extent of such burden has a close bearing on the outcome of hypertension treatment and prevention. Conclusion Effective community-based blood-pressure monitoring and control system is key to reducing the financial burden of hypertension. The reimbursement policy for hypertensive patients within the basic medical insurance is expected to be further improved.

The value of the left atrial volume tracking (LAVT) method in the evaluation of left atrial (LA) function in patients with diabetes mellitus (DM) was examined in this study. Fifty-eight DM patients as DM group and 40 healthy people as normal control group were enrolled in this study. EUB-6500 echocardiographic imaging system with LAVT was applied to display and analyze the LA volume curve imaging on LV apical two and four chamber views. The maximal LA volume at end-systole (LAV(max)), LA volume at the onset of ECG-P wave (LAV(p)), the minimal LA volume at end-diastole (LAV(min)) from the LA volume curve were acquired and recorded. All values above were standardized by body surface area (BSA). Then the passive, active and total LA volume (LAVIpass, LAVIact, LAVItotal) and empting rate (%LAVIpass, %LAVIact, %LAVItotal), effective passive and active empting rate (%eLAVIpass, %eLAVIact), and the proportionality of passive empting volume and active empting volume were calculated. The LAVIp, LAVIact, LAVItotal, %LAVIact, %LAVItotal and %eLAVIact were significantly higher in the DM group than those in the control group, whereas the LAVIpass, %LAVIpass, %eLAVIpass and LAVIpass/act were lower (all P<0.05). For the LA volume change in DM, the active empting volume was enhanced at end-diastole. It was concluded that LAVT is a potentially useful tool to evaluate the function of LA.

Left ventricular remodeling index (LVRI) was assessed in patients with hypertensive heart disease (HHD) and coronary artery disease (CAD) by real-time three-dimensional echocardiography (RT3DE). RT3DE data of 18 patients with HHD, 20 patients with CAD and 22 normal controls (NC) were acquired. Left ventricular end-diastolic volume (EDV) and left ventricular end-diastolic epicardial volume (EDVepi ) were detected by RT3DE and two-dimensional echocardiography Simpson biplane method (2DE). LVRI (left ventricular mass /EDV) was calculated and compared. The results showed that LVRI measurements detected by RT3DE and 2DE showed significant differences inter-groups (P<0.01). There was no significant difference in NC group (P>0.05), but significant difference in HHD and CAD intra-group (P<0.05). There was good positive correlations between LVRI detected by RT3DE and 2DE in NC and HHD groups (r=0.69, P<0.01; r=0.68, P<0.01), but no significant correlation in CAD group (r=0.30, P>0.05). It was concluded that LVRI derived from RT3DE as a new index for evaluating left ventricular remodeling can provide more superiority to LVRI derived from 2DE.
Cardiomegaly/etiology ; Cardiomegaly/pathology ; Cardiomegaly/*ultrasonography ; Coronary Artery Disease/pathology ; Coronary Artery Disease/*ultrasonography ; Echocardiography, Three-Dimensional/*methods ; Hypertension/*complications ; Hypertension/ultrasonography ; Ventricular Remodeling/*physiology

Left ventricular remodeling index (LVRI) was assessed in patients with hypertensive heart disease (HHD) and coronary artery disease (CAD) by real-time three-dimensional echocardi-ography (RT3DE).RT3DE data of 18 patients with HHD,20 patients with CAD and 22 normal con-trols (NC) were acquired.Left ventricular end-diastolic volume (EDV) and left ventricular end-diastolic epicardial volume (EDVepi) were detected by RT3DE and two-dimensional echocar-diography Simpson biplane method (2DE).LVRI (left ventricular mass/EDV) was calculated and compared.The results showed that LVRI measurements detected by RT3DE and 2DE showed sig-nificant differences inter-groups (P<0.01).There was no significant difference in NC group (P>0.05),but significant difference in HHD and CAD intra-group (P<0.05).There was good positive correla-tions between LVRI detected by RT3DE and 2DE in NC and HHD groups (r=0.69,P<0.01; r=0.68,P<0.01),but no significant correlation in CAD group (r=0.30,P>0.05).It was concluded that LVRI derived from RT3DE as a new index for evaluating left ventricular remodeling can provide more su-periority to LVRI derived from 2DE.