In early stage after liver transplantation(LT), coagulation function of recipients stays in a fragile balance. Affected by a variety of complex mechanisms, blood is usually hypercoagulable. An imbalance between coagulation factors and physiological anticoagulants, elevated level of vWF, an occurrence of fibrinolysis inhibition and dosing of immunosuppressive agents cause a hypercoagulable state in an early stage after LT. Blood hypercoagulability may lead to such thrombotic complications as hepatic artery, portal vein and deep vein thromboses. Some studies have demonstrated that postoperative prophylactic anticoagulation has some effect in reducing the risks of early postoperative thrombosis. However, there is still a great lack of high-quality evidence. This review summarized the latest researches on early coagulation dysfunction, thrombosis and preventive anticoagulation after LT.

OBJECTIVE: To explore the genetic etiology of recurrent hydatidiform mole (RHM) and provide accurate guidance for reproduction. METHODS: Peripheral venous blood samples of the probands with RHM and members from 5 unrelated pedigrees were collected. Genomic DNA was extracted by using routine method, and whole exome sequencing was carried out to detect variants of RHM-associated genes including NLRP7 and KHDC3L. Sanger sequencing and real-time quantitative PCR (RT-qPCR) were used to validate the candidate variants and delineate their parental origin. RESULTS: Homozygous or compound heterozygous variants of the NLRP7 gene were identified in four patients from three pedigrees, which included a homozygous deletion of exon 1 to 4 of NLRP7 in patient P1 and her elder sister, compound heterozygous variants of NLRP7 c.939delG (p.Q314Sfs*6) pat and c.1533delG (p.N512Tfs*4) mat in patient P2, and compound heterozygous variants of NLRP7 c.2389_2390delTC (p.A798Qfs*6) pat and c.2165A>G (p.D722G) mat in patient P4. All variants were interpreted as pathogenic or likely pathogenic according to the American College of Medical and Genomics (ACMG) guidelines. Among these, NLRP7 exons 1 to 4 deletion, c.939delG (p.Q314Sfs*6), c.1533delG (p.N512Tfs*4) and c.2389_2390delTC (p.A798Qfs*6) were unreported previously. CONCLUSION Variants of the NLRP7 gene probably underlay autosomal recessive RHM in the three pedigrees, and definitive molecular diagnosis is beneficial for accurate genetic counseling. Above finding has also enriched the spectrum of the NLRP7 variants underlying RHM.
Adaptor Proteins, Signal Transducing/genetics* ; Aged ; China ; Female ; Homozygote ; Humans ; Hydatidiform Mole/pathology* ; Mutation ; Pedigree ; Pregnancy ; Sequence Deletion

Objective To investigate chromosome abnormality rate and related factors of spontaneous abortion in early pregnancy. Methods A total of 831 tissue samples of spontaneous abortion in early pregnancy were collected from June 2015 to August 2018 in the First Affiliated Hospital of Nanjing Medical University. Chromosomal copy number was analyzed by next generation sequencing (NGS). The relationships between chromosome abnormality and maternal age, in vitro fertilization?embryo transfer (IVF?ET) pregnancy, number of previous spontaneous abortions, history of live birth were analyzed by statistical methods. Results Among 831 tissue samples of spontaneous abortion in early pregnancy, 461 (55.5%, 461/831) were found to have chromosome abnormalities. Maternal age (OR=1.107, 95%CI: 1.070-1.145) and history of live birth ( OR=1.909, 95%CI : 1.182-3.083) were the positive correlative factors of chromosome abnormality. Times of previous spontaneous abortion (OR=0.807, 95%CI: 0.702-0.928) and IVF?ET pregnancy ( OR=0.554, 95%CI : 0.404-0.760) were the negative correlative factors of chromosome abnormality. Conclusions Chromosome abnormality is an important cause of spontaneous abortion in early pregnancy. The rate of chromosome abnormality increases with the increase of maternal age and the history of live birth, and decreases with the increase of number of previous spontaneous abortion and IVF?ET pregnancy.

Objective: To investigate chromosome abnormality rate and related factors of spontaneous abortion in early pregnancy. Methods: A total of 831 tissue samples of spontaneous abortion in early pregnancy were collected from June 2015 to August 2018 in the First Affiliated Hospital of Nanjing Medical University. Chromosomal copy number was analyzed by next generation sequencing (NGS). The relationships between chromosome abnormality and maternal age, in vitro fertilization-embryo transfer (IVF-ET) pregnancy, number of previous spontaneous abortions, history of live birth were analyzed by statistical methods. Results: Among 831 tissue samples of spontaneous abortion in early pregnancy, 461 (55.5%, 461/831) were found to have chromosome abnormalities. Maternal age (OR=1.107, 95%CI: 1.070- 1.145) and history of live birth (OR=1.909, 95%CI: 1.182-3.083) were the positive correlative factors of chromosome abnormality. Times of previous spontaneous abortion (OR=0.807, 95%CI: 0.702-0.928) and IVF-ET pregnancy (OR=0.554, 95%CI: 0.404-0.760) were the negative correlative factors of chromosome abnormality. Conclusions Chromosome abnormality is an important cause of spontaneous abortion in early pregnancy. The rate of chromosome abnormality increases with the increase of maternal age and the history of live birth, and decreases with the increase of number of previous spontaneous abortion and IVF-ET pregnancy.

Objective To explore a more minimally invasive and economical treatment for atrial septal defect (ASD) through comparing the efficacy and safety in percutaneous transcatheter closure of atrial septal defect procedure,guided by transthoracic echocardiography(TTE) and transesophageal echocardiography(TEE).Methods From March 2014 to September 2017,197 patients with ASD who were feasible to treated with percutaneous transcatheter closure procedure evaluated by preoperative ~ were recruited.TTE showed ASD belonged to secundum(central type) with a maximal diameter range from 2 mm to 35mm,including 82 cases of the ASD without aortic rim.There were 106 patients(47males and 59 females including 37 ASD without aortic rim) with a mean age of 14.2 years(6 months-59 years) old and a mean body weight of 29.5(8.5-64.0)kg were performed percutaneous transcatheter closure of ASD guided by TEE under general anesthesia and endotracheal intubation,and 91 patients(41males and 50 females with 45 ASD without aortic rim inside) with a mean age of 13.8 years(9 months-65 years) old and a mean body weight of 30.4 (9.5-61.0)kg were treated with the percutaneous transcatheter procedure guided by TTE when patients in waking state of local anesthesia(general anesthesia were adopted in patients under 12 years old without intubation).The size of the occluder was selected on the basis of the maximal diameter plus 2-6mm.All 197 cases intraoperation and postoperation data were collected,including complications 、operation time 、operation room stay time and total cost.Results 1 patients in 106 cases of the the TEE group were transferred to small incision on the chest performing transthoracic transcatheter closure of ASD because the difficult stuck of the occluder.3 patients in TEE group transferred to repair under cardiopulmonary bypass(CPB) via small incision on the chest because the difficult stuck of the occluder even in using transthoracic transcatheter closure way.86 patiens in TTE group successfully treated with percutaneous transcatheter closure,and there were 5 failed cases including 2 patients who transferred to TEE guided because of the poor imaging of TTE,another 2 cases treated with transthoracic transcatheter closure of ASD because the difficult stuck of the occluder,and 1 patient performed ASD repair procedure under CPB via small incision on the chest because of the huge ASD without aortic rim and difficult stuck of the occluder.All the 197 patients were cured and discharge from hospital,and there were no complications.There was no significant difference in age,weight,and maximum diameter of ASD between TEE group and TTE group (P ＞ 0.05).Follow-ups were conducted by TTE at month 3 post-operation,and all 197 cases performed no residual shunt of ASD,there were no difference between 2 group.The stay time in the operation room was(68.2 ± 17.3) min in group TEE and (34.7 ± 16.8) min in group TTE,there was obviously shortened the stay time in operation room(P ＜0.01).The total cost of the TTE group was(24.2 ± 2.1) thousand yuan,and the group TEE was(29.3 ± 1.4) thousand yuan,and the cost was significantly reduced in TTE group (P ＜ 0.01).Conclusion The treatment of percutaneous transcatheter closure of ASD guided by TTE is effective and safe,and the feature of more non-invasive and socioeconomic benefits show a broad application prospect.

Objective To investigate the effects of risk factors on non thyroidal Illness syndrome (NTIS) in elderly inpatients.Methods A total of 819 elderly inpatients who met inclusion criteria were consecutively recruited in thiscross-sectional study.Physicalmeasurements and mini nutritional assessment using the mini nutritional assessment-short form (MNA-SF) score were conducted.A serum levels of thyroid stimulating hormone (TSH),free triiodothyronine (FT3),free thyroxine (FT4),brain natriuretic peptide (BNP) and C-reactive protein (CRP) were examined.Data were analyzed with multivariatelogistic regression.Results The significant differences were found between NTIS group (n=145) versus control group (n=674)inage (78.5±8.1) years vs.(75.1±8.6) years(t=5.422,P＜0.01),in body mass index (23.0 ±3.8) kg/m2 vs.(24.1±3.6) kg/m2,in MNA-SF score 11.2±2.3 vs.12.3± 1.8(t=-3.315,6.754,P＜0.01),in level of serum albumin (36.0±4.5) g/L vs.(38.4±3.6) g/L (t=-6.977,P＜0.01),in triglyceride level (1.3± 0.9) mmol/L vs.(1.5±1.0) mmol/L(t=-3.039,P＜0.01),inCRP (Z=-8.857,P＜0.01)),and in BNP (t=6.331,P＜0.01).Logistic regression analysis revealed that age＞ =80 years (OR=2.433,95％CI:1.357 4.361),malnutrition (OR=1.946,95％CI:1.261-3.001),renal insufficiency (eG FR＜60 ml/min,OR =2.131,95％ CI:1.367-3.322),and high level of CRP (10 mg/L and 50 mg/L:OR=3.446,95％CI:2.117-5.611;over 50 mg/L:OR =10.029,95％CI:4.693-21.432,all P＜0.01)) were risk factors for NTIS.Conclusions Non-thyroidal illness syndrome in elderly inpatients is correlated with advanced age,renal insufficiency,malnutrition and stress,which are the independent risk factors.

Objective To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles.Chromosomal analysis was performed by array-CGH technology combined with whole genome amplification.Single embryo transfer was performed in all transfer cycles.Live birth rate was calculated as the main clinical outcomes. Results The embryo diagnosis rate of PGD/PGS by array-CGH were 96.9%-99.1%. In PGD biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were 50.0%(58/116) and 37.2%(58/156) in cleavage-stage-biopsy group, 67.5%(85/126) and 51.8%(85/164) in trophectoderm-biopsy group (both P<0.01). In PGS biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were the same as 34.8%(8/23) in cleavage-stage-biopsy group, the same as 42.1%(16/38) in trophectoderm-biopsy group (both P>0.05). Conclusions High diagnosis rate and idea live birth rate are achieved in PGD/PGS cycles based on array-CGH technology.The live birth rate of trophectoderm-biopsy group is significantly higher than that of cleavage-stage-biopsy group in PGD cycles;the efficiency of trophectoderm-biopsy is better.

Objective we assessed our institutional outcomes of hybrid treatment for aortic arch disease with supra-aortic debranching and endovascular stent graft repair.Methods From March 2016 to November 2016,6 patients underwent Hybrid total aortic arch repair:1 had aortic arch pseudoaneurysm;1 had type Ⅲ aortic dissection;4 had aortic arch aneurysm because of hypotension,of whom 1 with aneurysm prerupture and 1 with Aortic intramural hematoma.Supra-aortic vessels were involved and high-risk for traditional operations in all patients.Bifurcated artificial vessels were used,main vessel was end-to-side anastomosed with ascending aorta.Branching vessel were end-to-end anastomosed with right innominate artery and left subclavian artery,end-to-side anastomosed with left common carotid artery.Then,stent graft was implanted into ascending aorta and aortic arch.All patients were followed postoperatively,with regularly contrast computed tomography angiogram (CTA) and echocardiography(discharge,three months,six months,and yearly).Results Hybrid procedure with supra-aortic debranching and endovascular stent graft repair were completed in all patients,technical success rate was 100％.There were no perioperative obvious morbidity and mortality,follow-up period were 2-9 months.1 patients had stroke during follow-up period,condition improved after treatment.Supra-aortic vessels were patency and there were no endoleak in all patients.There were no recurrent aortic disease during follow-up period.Conclusion Hybrid aortic arch replacement can be performed with good postoperative and early results in high-risk patients for traditional open repair.

Objective    To compare video-assisted thoracic surgical technique (VATS) and conventional surgical technique (CSM) in mitral valve replacement (MVR). Methods    We retrospectively analyzed clinical data of 93 patients in our hospital with mitral valve replacement between January 2010 and January 2015. The patients were divided into two groups including a VATS group and a CSM group.There were 43 patients with 25 males and 18 females at age of 57.43±5.65 years in the VATS group, and 50 patients with 27 males and 23 females at age of 56.40±6.32 years in the CSM group.The clinical outcomes of the two groups were compared. Results    There was no mortality. Echocardiography was normal in both groups during 1-year follow-up. There was no significant difference between the two groups in the operative time, aortic clamping time, cardiopulmonary bypass (CPB) time, or ventilation time. As compared with the CSM group, the patients in the VATS group had a significantly lower complication rate, shorter chest incision length (5.23±1.36 cm vs. 18.21±3.89 cm), less blood transfusion (1.75±0.25 U vs. 3.15±1.50 U), less chest drainage (202.34±12.12 ml vs. 412.32±21.56 ml) and lower pain score (1.26±0.86 vs. 3.01±1.13), shorter time of postoperative hospital stay (8.20±2.36 d vs. 12.10±3.26 d). Conclusion    MVR under VATS is not only technically feasible, but also with excellent clinical results.

Objective To evaluate the effect of dexmedetomidine (DEX) on inflammatory responses in patients performed cardiac surgery with cardiopulmonary bypass (CPB) at perioperative period,and explore the influencing factors of postoperative cognitive dysfunction (POCD) in these patients.Methods Eighty patients scheduled for cardiac surgery with CPB at hospital from July 2013 to June 2014 were randomized into control group and DEX group (n=40).Before induction of anesthesia,DEX was administered to the patients from DEX group with a loading dose of 1 μg/kg followed by maintenance dose of 0.5 μg/ (kg·h),while the same dose of normal saline was administered to patients from control group.Before incision (T0),30 min after beginning of CBP (T1),30 min after end of CBP (T2),end of surgery (T3),24 h after end of surgery (T4) and 72 h after end of surgery (T5),venous blood samples from jugular bulb catheters were drawn,and serum concentrations of tumor necrosis factor α (TNF-αt),interleukin (IL)-6 and IL-10 were determined.One d before operation,3nd,7th,90th and 180th day after operation,the cognitive functions of patients were tested with mini-mental state examination (MMSE),digit span subtest (DSpan),digit symbol subtest (DSy) and trail making test (TMT).The DSpan contained digit span forward subtest (DSpan-F) and digit span reverse subtest (DSpan-R).Results The serum concentrations of TNF-α,IL-6 and IL-10 in two groups at T1,T2 and T3 were significantly higher than those at T0 (P＜0.05);the serum concentrations of TNF-α and IL-6 in DEX group were significantly lower than those in control group (P＜0.05),while that of IL-10 in DEX group was significantly higher than that in control group (P＜0.05).In the control group,all results excepted for TMT on the 3nd d after operation,MMSE and DSpan-R results on the 7th d after operation,and DSpan-R results on the 90th d after operation were significantly lower than those results one d before operation (P＜0.05);in the DEX group,MMSE and DSpan-R results on the 3nd d after operation were significantly lower than those results one d before operation (P＜0.05);MMSE and DSpan-R results on the 3nd and 7th d after operation,and DSpan-R results on the 90th d after operation in the DEX group were significantly higher than those in the control group (P＜0.05);TMT on the 3nd after operation in the DEX group was significantly lower than that in the control group (P＜0.05).The incidence rate of POCD in the DEX group on the 3nd and 7th d after operation (23.5％ and 14.7％) was significantly lower than that in the control group (46.9％ and 37.5％,P＜0.05).Conclusion DEX with a loading dose of 1 iμg/kg followed by maintenance dose of 0.5 μg/ (kg· h) can reduce the early incidence of POCD in cardiac surgery with cardiopulmonary bypass,but can not reduce the late incidence.