To unravel the genetic mechanisms of disease and physiological traits, it requires comprehensive sequencing analysis of large sample size in Chinese populations. Here, we report the primary results of the Chinese Academy of Sciences Precision Medicine Initiative (CASPMI) project launched by the Chinese Academy of Sciences, including the de novo assembly of a northern Han reference genome (NH1.0) and whole genome analyses of 597 healthy people coming from most areas in China. Given the two existing reference genomes for Han Chinese (YH and HX1) were both from the south, we constructed NH1.0, a new reference genome from a northern individual, by combining the sequencing strategies of PacBio, 10× Genomics, and Bionano mapping. Using this integrated approach, we obtained an N50 scaffold size of 46.63 Mb for the NH1.0 genome and performed a comparative genome analysis of NH1.0 with YH and HX1. In order to generate a genomic variation map of Chinese populations, we performed the whole-genome sequencing of 597 participants and identified 24.85 million (M) single nucleotide variants (SNVs), 3.85 M small indels, and 106,382 structural variations. In the association analysis with collected phenotypes, we found that the T allele of rs1549293 in KAT8 significantly correlated with the waist circumference in northern Han males. Moreover, significant genetic diversity in MTHFR, TCN2, FADS1, and FADS2, which associate with circulating folate, vitamin B12, or lipid metabolism, was observed between northerners and southerners. Especially, for the homocysteine-increasing allele of rs1801133 (MTHFR 677T), we hypothesize that there exists a "comfort" zone for a high frequency of 677T between latitudes of 35-45 degree North. Taken together, our results provide a high-quality northern Han reference genome and novel population-specific data sets of genetic variants for use in the personalized and precision medicine.

Objective:To explore the effect and mechanism of pilose antler different components on the bone tissue of ovariectomized osteoporosis model rats and ascertain the material basis of pilose antler. Method:fifty-six SD rats were divided randomly into seven groups:normal group,model group,Xianling Gubao group(468 mg·kg^-1),Bujiale group(80 mg·kg^-1),polysaccharide group(50 mg·kg^-1),polypeptides group(175 mg·kg^-1),polysaccharide and polypeptide mixture group(50 mg·kg^-1+175 mg·kg^-1). Osteoporosis mode was established through ovary resection of female rats,meanwhile,the rats were given different components of pilose antler for consecutively 12 weeks. Subsequently, using absorptiometry to measure the rats' bone mass density. The activities of bone alkaline phosphatase(BALP),osteocalcin (OT),bone morphogenetic protein2(BMP-2),Smad1,Smad5,Runt-related transcription factor 2 (RUNX2) were detected by enzyme-linked immuno sorbent assay (ELISA). The expression of BMP-2,Smad1,Smad5,Runx2 protein was examined by Western blot and Real-time polymerase chain reaction (Real-time PCR). Morphological assay for bone tissue were detected by htoxylin eosin(HE) staining. Result:After 12 weeks, Compared with the normal group, the osteoporosis model group showed significantly decrease in bone mineral density(P<0.05), and bone BALP,OT,BMP-2,Smad1,Smad5, Runx2 content(P<0.05), the mRNA and protein expression of BMP-2,Smad1, Smad5, Runx2 in bone were significantly decrease(P<0.05). Bone tissue was destroyed. Compared with the osteoporosis model group,different components of pilose antler could significantly improve the activities of BALP,OT,BMP-2,Smad1, Smad5, Runx2 and bone mineral density in bone,and up-regulate the mRNA and protein expression of BMP-2,Smad1,Smad5,Runx2.Bone structure is repaired. Conclusion:Pilose antler different components has therapeutic effect on ovariectomized osteoporosis model rats.The mechanism may be related to up-regulat the expression of BMP-2/Smad1,Smad5/Runx2 signal pathways.

Objective To introduce the initial application experience of SUTURE (suture-undertent and underside-reposition-enhancement) technique in robotic-assisted radical prostatectomy and discuss its safety and effectiveness.Methods The surgeon has performed 64 cases of Robotic-assisted radical prostatectomy between November 2016 to April 2017.The mean age was (66.6 ± 1.6) years (53-81 years);median PSA was 15.29 ng/ml(1.41-152.53 ng/ml),tumor stage was T1cN0M0-T3bN0M0.The patients were diagnosed by ultrasound-guide prostate biopsy.The number of cores was 6-15,average Gleason score was 7.3 points (6-10 pionts).ECT and MR were used to assess local stage and bone metastasis.The tPSA and urine recovery (urine pad test) was followed-up regularly.SUTURE technique consists of two parts,control the DVC effectively by retain the puboprostatic ligaments and puboprostatic ligaments reconstruction.Result All cases were successfully completed without complication,the average operation time was 95 min (66-150 min);bleeding (106 ± 15) ml(50-300 ml).All the catheters were released 14 days after surgery.Postoperative pathological staging was pT2aN0-pT3bN1,25 cases of capsule invasion,12 cases with seminal vesicle invasion,37 cases with nerve invasion.Average Gleason score was 7.2 points (6-10 points).The median tPSA detected 4 weeks after surgery was 0.047 ng/ml(0.007-12.050 ng/ml).The follow-up time was 1-6 months.The rate of urine control in 1 month and 3 month were 40.8％ (20/49) and 75.8％ (25/33).Conclusions By using SUTURE technique we can control thedorsal vascular complexstrictly,and complete the puboprostatic ligaments reconstruction by stitch it to the anterior vesicourethral.The SUTRUE is a safe and effective systematic DVC controlling technique,and the early urinary control rate is satisfactory.

Objective To observe the clinical effect of mechanical perfusion preservation kidney transplantation in donor after cardiac death (DCD),and to explore the effect of mechanical perfusion preservation of DCD on renal function recovery.Methods The clinical data of 186 patients undergoing DCD kidney transplantation from January 2012 to December 2016 were retrospectively analyzed.Sixty-eight DCD donor's kidneys were preserved by LifePortpreservation (low temperature mechanical perfusion group),118 DCD donor's kidneys were preserved by static low temperature preservation (static low temperature preservation group).The renal function recovery,the incidence of primary non-function,delayed graft function and infection,and the survival rate of patients and renal grafts were analyzed.Results There was no significant difference between the two groups in gender,age,hemodialysis ratio,dialysis time,BMI,warm ischemia time and cold ischemia time (P＞0.05).There was significant difference in creatinine value between the two groups at 1st week (P＜0.05),but there was no significant difference in creatinine at 3rd,6th,12th,24th and 36th month (P＞0.05).There was significant difference in the incidence of DGF between two groups (P＜0.05),but no significant difference in the incidence rate of PNF,AR and infection,and the survival rate of patient and renal graft between two groups (P＞0.05).There was no significant difference in 1-and 3-year survival rate of the recipients and transplanted kidney between the two groups (P＞0.05).Conclusion LifePort can significantly reduce the incidence of DGF as compared with static cold preservation.The resistance index and perfusion flow of the LifePort have important significance to assess the renal quality.

OBJECTIVETo investigate the antioxidative effect and mechanism of luteolin on rat cardiomyocytes and isolated hearts followed by simulated ischemia/reperfusion (SI/R) injury.

METHODSThe left ventricular cardiomyocytes and the isolated hearts from adult rats were subjected to SI/R injury. The experiment groups included control, SI/R, luteolin + SI/R (Lut + SI/R), vitamin E (Vit E) + SI/R, and LY294002 + luteolin + SI/R (LY + Lut + SI/R) groups. Cell viability, shortening amplitude, lactate dehydrogenase (LDH) release, superoxide dismutase (SOD) activity, the production of reactive oxygen species (ROS) and malondialdehyde (MDA), expression levels of Akt, phosphorylated Akt, NOX2 (gp91phox), NOX2 mRNA, mitogen-activated protein kinase (p38 MAPK) and phosphorylated p38MAPK were all measured after 3-h simulated ischemia and 2-h simulated reperfusion procedure in cardiomyocytes. Vit E was used as a standard control. The contractile function of isolated hearts was further observed after they were subjected to 30-min global ischemia and 120-min reperfusion.

RESULTSPretreatment with 8-μmol/L luteolin substantially increased cell viability and shortening amplitude, while reducing evidence of oxidative stress-induced damage in the cells. In addition, the expression of NOX2, NOX2 mRNA and phosphorylation of p38MAPK were all downregulated. Furthermore, pretreatment with 40-μmol/L luteolin improved the recovery of myocardial contractile function following SI/R-induced injury, and luteolin markedly increased phosphorylation of Akt. However, all of the above effects were partially inhibited by the phosphatidylinositol 3-kinase (PI3K) inhibitor, LY294002.

CONCLUSIONSLuteolin prevents SI/R-induced myocardial damage by reducing oxidative stress-induced injury in isolated rat hearts and cardiomyocytes, and the cardioprotection induced by luteolin was partially mediated by the PI3K/Akt pathway.

OBJECTIVETo investigate the association between vitamin D receptor (VDR) gene Apa I polymorphism and the susceptibility to bone and joint tuberculosis in Chinese Han population.

METHODSBetween May, 2015 and June, 2016, 100 patients with bone and joint tuberculosis and 100 healthy volunteers were recruited concomitantly in Heyuan Hospital of Traditional Chinese Medicine. Vitamin D receptor gene Apa I polymorphisms in these subjects were analyzed using SNaPshot.

RESULTThe genotype frequencies of Apa I-AA, Apa I-Aa and Apa I-aa were 51%, 41%, and 8% in the case group and 33%, 55%, and 12% in the control group, respectively, showing significant differences between the two groups (P<0.05). The genotype of Apa I-AA was significantly higher in the case group with an odds ratio (OR) of 2.073 (95% CI: 1.142-3.763).

CONCLUSIONThe Apa I polymorphisms of the VDR gene are associated with the susceptibility to bone and joint tuberculosis in Chinese Han population, and individuals with a Apa I-AA genotype are at greater risks to develop bone and joint tuberculosis.

At present,although magnetic resonance imaging(MRI)is not a routine examination of esophageal cancer,the preliminary results of some studies have indicated that MRI may become an important alternative for esophageal cancer staging, radiotherapy target delineation, and efficacy assessment. This article mainly discusses the value of MRI in the staging and radiotherapy for esophageal cancer.

Adolescent ; Female ; Gaucher Disease ; diagnosis ; pathology ; Humans ; Lymphadenopathy ; diagnosis ; pathology ; Tomography, X-Ray Computed

Objective To evaluate the effect of living-related donor renal transplantation with mild renal arterial stenosis upon the early renal function and postoperative complications of the recipients. Methods Clinical data of 1 4 donors and recipients undergoing living-related donor renal transplantation with mild renal arterial stenosis and 50 donors and recipients receiving standard living donor renal transplantation from healthy relatives were retrospectively analyzed. The levels of serum creatinine (Scr ) in the donors were statistically compared between two groups. The serum levels of Scr at postoperative 1 ,3 and 6 months in the recipients were statistically compared between two groups. The survival rate of kidney graft,and the incidences of delayed graft function (DGF),acute rejection and pulmonary infection were compared between two groups. Results Postoperative Scr levels of the donors did not significantly differ between two groups(all P>0. 05 ). The Scr levels of the recipients at postoperative 1 ,3 and 6 months did not significantly differ between two groups (all P>0. 05 ). The survival rate of kidney graft,and the incidences of DGF,acute rejection and pulmonary infection in the recipients did not significantly differ between two groups (all P >0. 05 ). Conclusions Living-related donor renal transplantation with mild renal arterial stenosis exerts no significant effect upon renal function and postoperative complication in the recipients,who are eligible for the donors for renal transplantation.

Objective To summarize the diagnosis and treatment of localized malignant peritoneal mesothelioma(LMPM). Methods A total of 68 cases of LMPM were analyzed retrospectively,including 65 patients in the literature concerning LMPM published in Chinese medical journals be-fore October 2014 plus 3 cases of LMPM admitted in The First Hospital of China Medical University in the same period. Results Among the 68 cas-es,30 cases were male,38 cases were female,with a male to female ratio of 1:1.27. Mean age was 57.6 years. Major clinical manifestations includ-ed abdominal pain or discomfort(76.9%)and palpable abdominal masses(58.5%). Patients(41.7%)had the history of exposure to asbestos. Among the 48 cases(92.3%)that underwent CT examination,ascites was found in 16 cases,and hepatic metastasis was found in 11 cases. Most of the tumors were epithelial type(76.7%),with a mean diameter of 12.2 cm. The main therapeutic strategy was combination therapy of cytoreductive surgery with intraperitoneal hyperthemic chemotherapy. Conclusion LMPM is a rare malignant tumor that occurs predominantly in old people. Symptoms and imaging examinations are untypical. The diagnosis is dependent on pathological examination. Combining several laboratory tests could help the diagnosis. Combination therapy of cytoreductive surgery with intraperitoneal hyperthemic chemotherapy provides an adequate and efficient treatment for LMPM.