This paper comprehensively reviewed the practice and meanings of non-invasive prenatal test (NIPT) in China and discussed the ethical issues.NIPT,as a step of prenatal diagnosis,brought conflicting values and moral economic influences.Its widely application also imposes higher requirements on policy regulation and lead to some ethical issues,including whether the client really informed consent.Genetic counselling is also crucial before and after the test.However,the subjects,doctors and medical staff have not yet fully prepared.Furthermore,this technique is relatively simple and cheap,and its application relates to many aspects.It is necessary to discuss the influence at the early stage and put forward the ethical issues that need to be paid attention to.Therefore,life ethics expert participation is extremely important,and to some extent will leadfetal and maternal supervision,management and supervision to a new level,especially with the development of NIPT and the application of whole genome sequencing (WGS).

Objective:To study effects of neuroligin (NLG) on the proliferation and apoptosis in human neuroblastoma SH-SY5Y cells.Methods:The SH-SY5Y cells were cultured in vitro for 24 hours,and then transfected with NLG siRNA at dose of 50,100,200 μmol/L,respectively.MTT procedure was used to detect the cell proliferation,and expression levels of apoptosis gene including Bax or Bcl-2 and Bcl-xl were measured by RT-PCR.Results:Compared to control groups proliferation of SH-SY5Y cells were distinctly inhibited after NLG siRNA transfection accompany with a dose-dependent,which was caused by activation of apoptosis.Conclusions:NLG protect neuron by inhibiting apoptosis.

Objective To find out some trigger factors for the onset of acute childhood leukemia by examining seasonal distribution through a small cohort study in a single center.Methods The records of 688 childhood patients(age≤15 years)whom were initially diagnosed at Blood Disease Hospital of CAMS from October 2003 to June 2006,were retrospectively analyzed.Results In terms of time,our study provides modest support for sessonal peaks in summer and winter,or in Jan & Jun.Conclusion We initially realized the season tendency of the onset of acute childhood leukemia in some northern parts of China.which suggest that childhood acute leukemia is associated with the infection.

Objective To study the effects of low power laser irradiation in nasal cavity on cerebral blood flow and cerebral function in patients with brain infarction. Methods Thirty-nine patients with cerebral infarction were divided into a intravenous laser irradiation group and a laser irradiation in nasal cavity group. For the group of intravenous irradiation (ILIB group,18 cases), the patients lay on the bed with their heads fixed and were treated with intravenous laser irradiation for 30 min. Both before and after the therapy they received a SPECT cerebral perfusion imaging separately. For the group of laser irradiation in nasal cavity (LINC group,21 cases), the patients received laser irradiation in nasal cavity for 30 min and also SPECT cerebral perfusion imaging tests both before and after therapy. BFCR% model was used to quantify the blood flow of the focal and mirror regions. Results SPECT showed that there was significant improvement in perfusion of the entire brain and cerebral function in both ILIB and LINC groups after 30 minutes of treatment,each compared to those before treatment; the changes in the focal rCBF and cerebral function were much more obvious (P0.05). BFCR% in focal region was significantly higher than that in mirror region (P0.05). Conclusion Low power laser irradiation in nasal cavity can improve the focal rCBF and cerebral function of the patients with brain infarction, which is similar to that of the ILIB.

Objective To explore the safety and efficacy of policosanol in elder patients with high on-treatment platelet reactivity ( HPR) after drug-eluting stent ( DES) implantation. Methods This study was a prespecified subgroup analysis of the multicenter, randomized SPIRIT trial,in which there were a total of 169 elder patients (≥60 years old) with HPR. Among these patients, 30 patients were in group A ( given clopidogrel 75 mg/d for one year) , 75 patients in group B ( given clopidogrel 150 mg/d for 30 days followed by 75 mg/d until one year ) and 64 patients in group C ( given policosanol 40 mg/d for 6 month and clopidgrel 75 mg/d for one year ) . All patients were treated with aspirin at the same time. The primary endpoint was the reversion rate of HPR at 30 days (reversion was defined as platelet aggregation ﹤65%). The secondary endpoint was 2-year major adverse cardiac events ( MACE ) rate, which included cardiac death, non-fatal myocardial infarction and ischemic symptoms driven target vessel revascularization. The safety endpoint was any bleeding as defined by the Bleeding Academic Research Consortium ( BARC ) definition. Results At 30 days, the reversion rate of HPR in group C was numerically higher as compared with group A ( 42. 9% vs. 23. 3. 0%, P=0. 068 ) , and similar with group B ( 42. 9% vs. 49. 3%, P=0.447). MACE occurred in 4 (13.3%), 5(6.7%) and 3(4.7%) patients in group A, B and C respictively ( P=0. 352). Bleeding events in group A and group C were both markedly lower in comparison to group B (3. 3% vs. 17. 3% vs. 1. 6%, P=0. 001). At the 24-month follow-up, the MACE-free survival rates were not significantly different (95. 3% vs. 93. 3% vs. 86. 7%, P=0. 146). Conclusions For elder patients with HPR, policosanol reduced platelet reactivity to a similar extent in comparison of high maintenance dose of clopidogrel without increasing bleeding risk.

Immunosuppressive cells in the pancreatic cancer microenvironment play an important role in tumor development. Various immunosuppressive cytokines are secreted by these cells. Immunosuppressive cells may also influence the chemotherapeutic effect as well as promote drug resistance. Gemcitabine, albumin-bound paclitaxel, and other first-line chemotherapy agents not only suppress the proliferation of pancreatic cancer cells directly but also indirectly reinforce the anti-tumor effect of immune cells. However, chemo-therapeutic drugs may also induce immunosuppression, drug resistance, and tumor progression. In this review, we summarize the im-munosuppressive features of the pancreatic cancer microenvironment and its reciprocal relationship with chemotherapy, aiming to op-timize the current chemotherapy strategies from the perspective of the tumor immune microenvironment.

OBJECTIVETo analyze clinical features and mutation in MYH9 gene for a family featuring autosomal dominant May-Hegglin anomaly.

METHODSClinical and pathological features of all family members were analyzed. Blood samples were collected from the proband and other family members, and genomic DNA was extracted. Potential mutations of MYH9 gene exons 10, 25, 26, 30, 38 and 40 were screened with PCR and direct sequencing. After a mutation was identified in the proband, other affected members as well as healthy members from this family were analyzed with a pair of primers to amplify the mutant site. The PCR products were digested with Taq I enzyme and analyzed with agarose gel electrophoresis.

RESULTSAll affected members had bleeding tendency and typical features including giant platelets, thrombocytopenia and characteristic Dohle body-like leukocyte inclusions. A heterozygous missense mutation c.5521G>A (p.Glu1841Lys) in exon 38 of the MYH9 gene was identified in all affected members from this family.

CONCLUSIONThe variant, c.5521G>A (p.Glu1841Lys) of MYH9, has co-segregated with the phenotype in the family. The mutant site is a hot spot in Chinese population.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Exons ; Female ; Genes, Dominant ; Hearing Loss, Sensorineural ; Humans ; Male ; Molecular Motor Proteins ; genetics ; Mutation ; Myosin Heavy Chains ; genetics ; Pedigree ; Phenotype ; Thrombocytopenia ; diagnosis ; genetics

Objective: To investigate the efficacy and the prognostic factors of Chinese Academy of Medical Sciences 2005 (CAMS-2005) regimen in the treatment of pediatric acute myeloid leukemia (AML). Methods: Eighty-eight cases of newly-diagnosed AML patients, who were treated with the CAMS-2005 regimen from April 2005 to July 2009, were enrolled in this case observational study. Clinical characteristics, long-term prognosis and prognostic factors were analyzed retrospectively. Overall survival (OS) and event free survival (EFS) rates were estimated by the Kaplan-Meier method. Rates of survival between the groups were compared by the Log-rank test. Prognostic factors were evaluated by COX regression analysis. Results: A total of 82 cases were enrolled in this study, including 34 core binding factor(CBF)-AML patients and 48 non-CBF-AML patients. There were 45 males and 37 females. The median age at diagnosis was 8.0 (0.7-16.0) years. During the induction therapy, 3 patients (4%) developed treatment-related early-death, while 63 patients (77%) achieved complete remission (CR) and 53 patients (65%) achieved CR after 1 course. Twenty-one patients (33%) had relapsed disease. The CR rates of CBF-AML patients and non-CBF-AML patients were 91% (31/34) and 67% (32/48) (χ²=5.410, P=0.020) , while the relapse rates were 29% (9/31) and 38% (12/32) (χ²=0.508, P=0.476) . The 8-year OS and EFS rates of all 82 patients were 59%(48/82) and 51%(42/82). The 8-year OS rates of CBF-AML patients and non-CBF-AML patients were 74% (25/34) and 48%(23/48) (χ²=5.812, P=0.016), while the 8-year EFS rates of CBF-AML patients and non-CBF-AML patients were 71%(24/34) and 38%(18/48) (χ²=8.682, P=0.003). There were statistically significant differences between groups. The 8-year OS rates of patients who achieved CR after 1 course and other patients were 68% (36/53) and 46% (12/26) (χ²=9.606, P=0.002), while the 8-year EFS rates were 66% (35/53) and 27% (7/26) (χ²=19.471, P=0.000), the differences were all statistically significant. COX multivariate analysis showed that CBF-AML or non-CBF-AML and whether achieved CR after 1 course were independent prognostic factors of OS rates (relative risk: 2.538, 2.561) and EFS rates (relative risk: 3.050, 3.686) (P <0.05). Conclusions The efficacy of the CAMS-2005 regimen in the treatment of AML patients was well. CBF-AML or non-CBF-AML and whether achieved CR after 1 course were independent prognostic factors for pediatric AML patients.

OBJECTIVETo investigate the risk factors for No.11p lymph node metastasis in advanced gastric cancer.

METHODSA retrospective analysis was executed of the clinical data of 204 patients who were subject to advanced gastric cancer and accepted radical gastrectomy in Tianjin Cancer Hospital from January 2007 to December of 2011. All of the patients were diagnosed as gastric adenocarcinoma and received No.11p lymph node dissection. The general information of the patients and the number of dissected and positive lymph nodes were recorded in detail. Univariate and multivariate analysis of clinicopathological factors influencing No.11p lymph metastasis were performed by chi-square test and binary Logistiic Discussion, respectively.

RESULTSThe No.11p lymph node metastasis rate is 14.3%(29/204) in the 204 patients. The univariate analysis showed that No.11p lymph metastasis was correlated with diameter of tumor, depth of invasion (T stage), lymph node metastasis (N stage) and TNM stage (χ(2)=5.106, χ(2)=5.368, χ(2)=25.911, P<0.05). The association between the metastasis of the regional lymph nodes No.1, No. 3, No. 4sb, No. 5, No. 7, No. 9 and No.11p was significant (χ(2)=4.228, χ(2)=10.655, χ(2)=17.954, χ(2)=11.087, χ(2)=15.142, χ(2)=16.727, all P<0.05). Multivariate analysis confirmed that lymph node N3 stage(OR=4.791, 95% CI:2.056-11.167), No.4sb(OR=3.498, 95% CI:1.157-10.578) and No.9(OR=4.006, 95% CI:1.359-11.805) were three independent risk factors of No.11p lymph node metastasis(all P<0.05).

CONCLUSIONThe No.11p lymph node dissection in radical gastrectomy conventionally is reasonable and necessary. Lymph node N3 stage and the metastasis of regional lymph No.4sb and No.9 are independent risk factors of the metastasis of No.11p lymph node.

Adenocarcinoma ; diagnosis ; pathology ; Chi-Square Distribution ; Gastrectomy ; Humans ; Lymph Node Excision ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; Multivariate Analysis ; Retrospective Studies ; Risk Factors ; Stomach Neoplasms ; diagnosis ; pathology

OBJECTIVETo investigate the lymph node metastasis pattern in pN1 stage gastric cancer patients and to analyze its risk factors.

METHODSClinicopathological data of 219 patients who underwent radical gastrectomy and were confirmed as pN1 stage gastric cancer between January 2013 and March 2016 were reviewed. All the patients underwent D2 or extended D2(D2+) lymphadenectomy. The overall metastatic rate was calculated. The risk factors associated with lymph node metastasis were analyzed. The pattern of skip lymph node metastasis and clinicopathological factors related to skip metastasis were analyzed.

RESULTSAmong 219 patients, 119 patients had only one metastatic lymph node, and 100 patients had two metastatic lymph nodes. The relatively higher sites of lymph node metastasis were station No.3[29.2%(64/219)], No.6[18.3%(40/219)] and No.4[11.4%(25/219)]. Compared to patients with tumor diameter ≤5 cm, metastatic rates of station No.3[39.4% (39/99) vs. 20.8%(25/120), P=0.003], No.4[16.2%(16/99) vs. 7.5%(9/120), P=0.045] and No.8[16.2%(16/99) vs. 6.7%(8/120), P=0.025] were significantly higher in those with tumor diameter >5 cm. Skip lymph node metastasis was detected in 56 cases(25.6%) and skip lymph node metastatic rate was significantly higher in patients with tumor diameter >5 cm [34.3%(34/99) vs. 18.3%(22/120), P=0.007]. Logistic regression analysis showed that the tumor size was an independent risk factor for the skip lymph node metastasis in pN1 stage gastric cancer (OR=1.982, 95%CI: 0.978 to 3.921, P=0.033).

CONCLUSIONSThe perigastric station No1 lymph node is the main site of early lymph node metastasis of pN1 stage gastric cancer. General pattern of lymph node metastasis is from proximus to distance, while quite a lot of skip lymph node metastases are observed. Tumor size is an important factor affecting the lymph node metastasis and bigger tumor may result in skip lymph node metastasis easily.