OBJECTIVE: To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect. METHODS: Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result. RESULTS: Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication. CONCLUSION Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling.

BACKGROUND: Lung cancer rates among women in rural Xuanwei and Fuyuan counties in eastern Yunnan province, China, are among the highest in the world, even though almost all women are non-smokers, and they tend to develop lung cancer at a younger age than other locations by roughly 5 yr-10 yr. This study investigated the survival of lung cancer patients among female never-smokers. METHODS: The female never-smokers, who had lived for many years in Xuanwei and Fuyuan counties, with lung cancer newly-diagnosed between July 2006 to March 2010, were followed up through the end of 2016. Age-standardized relative survival for all cases was calculated using local life table. The Kaplan-Meier method and Log-rank test were used to analyze the relationship between the variables and the prognosis in univariate analysis. Cox regression analysis was employed in the multivariate analysis. RESULTS: Among 1,250 total subjects, 1,075 died and the remaining 175 were censored during the follow-up, with a median follow-up period of 69 months (95%CI: 61.9-76.0). Overall, the mean age was (54.8 ±10.9) yr, with variable clinical stages: 3.5% of cases were stage I, 8.7% stage II, 20.7% stage III, 29.7% stage IV, and 37.4% stage unknown. The 645 patients(51.6%) with cyto-histological diagnosis contains 303 with Squamous cell carcinoma, and 231 with adenocarcinoma, 24 with small cell, 43 with other specified type and 39 with unknown histological type. Only 215 (17.2%) patients received surgery, 487 (39.0%) were treated without surgery, and 548 (43.8%) did not receive any specific anticancer therapy. The 5-year observed survival rate and age-standardized relative survival were 8.9% (95%CI: 7.0-10.6), and 10.1% (95%CI: 3.7-20.5) respectively, with a median survival of 13.2 months. The 5-year survival rates were 41.1% for stage I, 22.4% for stage II, 5.3% for stage III, 1.3% for stage IV, 11.2% for missing stage, 17.9% for adenocarcinoma, and 5.6% for squamous cell carcinoma respectively. Surgery significantly improved 5-year survival rate compared with non-surgery (34.8% vs 3.2%, P<0.001). The patients with non-treatment, aged 65 years and older, living in rural areas and farmer with low socioeconomic status had poorer survival, whereas the patients treated in provincial hospitals and chest X-ray screening had better survival. Cox multivariate analysis further showed that stage of tumor-node-metastasis (TNM), treatment status, hospital-level, and X-ray screening were factors correlated with survival. CONCLUSIONS Patients with lung cancer among female never-smokers in Xuanwei and Fuyuan experience poorer survival, because they are less likely to be diagnosed at early stage, as well as less likely to receive surgery and comprehensive treatment. Furthermore low socioeconomic status and poor health security are also responsible for the low survival.

OBJECTIVETo diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice.

METHODSConventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid.

RESULTSThe karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome.

CONCLUSIONA rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.

Adult ; Amniotic Fluid ; cytology ; Aneuploidy ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Eye Abnormalities ; genetics ; Female ; Humans ; Isochromosomes ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Tetraploidy

Objective: To verify the safety and efficacy of IONTRIS particle therapy system (IONTRIS) in clinical implementation. Methods: Between 6.2014 and 8.2014, a total of 35 patients were enrolled into this trial: 31 males and 4 females with a median age of 69 yrs (range 39-80). Ten patients had locally recurrent head and neck tumors after surgery, 4 cases with thoracic malignancies, 1 case with hepatocellular carcinoma, 1 case with retroperitoneal sarcoma, and 19 cases with non-metastatic prostate carcinomas. Phantom dose verification was mandatory for each field before the start of radiation. Results: Twenty-two patients received carbon ion and 13 had proton irradiation. With a median follow-up time of 1 year, all patients were alive. Among the 16 patients with head and neck, thoracic, and abdominal/pelvic tumors, 2, 1, 12, and 1 cases developed complete response, partial response, stable disease, or disease progression, respectively. Progression-free survival rate was 93.8% (15/16). Among the 19 patients with prostate cancer, biological-recurrence free survival was 100%. Particle therapy was well tolerated in all 35 patients. Twenty-five patients (71.4%) experienced 33 grade 1 acute adverse effects, which subsided at 1 year follow-up. Six (17.1%) patients developed grade 1 late adverse effects. No significant change in ECOG or body weight was observed. Conclusions IONTRIS is safe and effective for clinical use. However, long term follow-up is needed to observe the late toxicity and long term result.

Objective To verify the safety and efficacy of IONTRIS particle therapy system ( IONTRIS) in clinical implementation. Methods Between 6.2014 and 8.2014, a total of 35 patients were enrolled into this trial:31 males and 4 females with a median age of 69 yrs ( range 39?80) . Ten patients had locally recurrent head and neck tumors after surgery, 4 cases with thoracic malignancies, 1 case with hepatocellular carcinoma, 1 case with retroperitoneal sarcoma, and 19 cases with non?metastatic prostate carcinomas. Phantom dose verification was mandatory for each field before the start of radiation. Results Twenty?two patients received carbon ion and 13 had proton irradiation. With a median follow?up time of 1 year, all patients were alive. Among the 16 patients with head and neck, thoracic, and abdominal/pelvic tumors, 2, 1, 12, and 1 cases developed complete response, partial response, stable disease, or disease progression, respectively. Progression?free survival rate was 93.8％ (15/16). Among the 19 patients with prostate cancer, biological?recurrence free survival was 100％. Particle therapy was well tolerated in all 35 patients. Twenty?five patients (71.4％) experienced 33 grade 1 acute adverse effects, which subsided at 1 year follow?up. Six ( 17.1％) patients developed grade 1 late adverse effects. No significant change in ECOG or body weight was observed. Conclusions IONTRIS is safe and effective for clinical use. However, long term follow?up is needed to observe the late toxicity and long term result.

Objective To verify the safety and efficacy of IONTRIS particle therapy system ( IONTRIS) in clinical implementation. Methods Between 6.2014 and 8.2014, a total of 35 patients were enrolled into this trial:31 males and 4 females with a median age of 69 yrs ( range 39?80) . Ten patients had locally recurrent head and neck tumors after surgery, 4 cases with thoracic malignancies, 1 case with hepatocellular carcinoma, 1 case with retroperitoneal sarcoma, and 19 cases with non?metastatic prostate carcinomas. Phantom dose verification was mandatory for each field before the start of radiation. Results Twenty?two patients received carbon ion and 13 had proton irradiation. With a median follow?up time of 1 year, all patients were alive. Among the 16 patients with head and neck, thoracic, and abdominal/pelvic tumors, 2, 1, 12, and 1 cases developed complete response, partial response, stable disease, or disease progression, respectively. Progression?free survival rate was 93.8％ (15/16). Among the 19 patients with prostate cancer, biological?recurrence free survival was 100％. Particle therapy was well tolerated in all 35 patients. Twenty?five patients (71.4％) experienced 33 grade 1 acute adverse effects, which subsided at 1 year follow?up. Six ( 17.1％) patients developed grade 1 late adverse effects. No significant change in ECOG or body weight was observed. Conclusions IONTRIS is safe and effective for clinical use. However, long term follow?up is needed to observe the late toxicity and long term result.

Background and purpose:Adenosine triphosphate-binding cassette superfamily G member 2 (ABCG2), which has been found over-expressed in a variety of cancer cells, takes part in the drug resistance of cancer through effux of anticancer drugs. The purpose of this study was to investigate the mechanisms of human glioblastoma cells sensitivity to pyropheophorbide-a methyl ester (MPPa)-mediated photodynamic therapy (PDT) eradicating tumour cells and its relationship to ABCG2.Methods:U87 and A172 glioma cell lines in the logarithmic growth phase were selected and exposed to the treatment of MPPa-PDT and MPPa-PDT+fumitremorgin C (FTC) respectively. The cell viability was measured with the use of CCK-8 assay. The expression of ABCG2 was detected by Western blot. The intracellular contents of MPPa in each group without illumination were tested by lfow cytometry. Flow cytometry with AnnexinⅤ-FITC/PI double staining was used to detect the cell apoptotic rate. DCFH-DA staining was used to assess the generation of intracellular reactive oxygen species (ROS).Results:The MPPa-mediated PDT could eradicate A172 and U87 cancer cells in an energy-dependent manner. The light energy density in A172 was 8 times of that in U87 when the cell viability reached median lethal dose after MPPa-mediated PDT. The high expression of ABCG2 in A172 cells affected the accumulation of intracellular MPPa. Inhibition of ABCG2, not only could enhance the eradicating effect of MPPa-PDT on A172 cells, but also could increase the yield of ROS triggered by MPPa-PDT and the accumulation of intracellular MPPa.Conclusion:The human glioblastoma cell line A172 is insensitive to MPPa-mediated PDT. The mechanism may relate to ABCG2, which decreases the MPPa content in cancer cells through effux of MPPa, resulting in decline of cytotoxicity.

Objective: To describe the degree of poverty caused by diseases among farmers who have joined New Rural Cooperative Medical Scheme( NRCMS) in Anhui province, and analyze the ability of NRCMS to reduce health risk factors in Anhui province, in order to provide suggestions for improving the NRCMS strategy. Methods: This paper randomly selects three counties to conduct comparative analysis on the NRCMS strategic changes from the aspects of registration rates, funding levels and compensation ratios between 2013 and 2014, in order to analyze the ability of NRCMS to reduce health risk factors from the aspects of the rate of poverty caused by diseases, the resolving degree of poverty caused by diseases, the alleviation degree of poverty caused by diseases, etc. Results: The ability of NRCMS to reduce health risk factors in Anhui province has improved between 2013 and 2014 , but the improve-ment is limited. Conclusions:In order to reduce the incidence of poverty caused by diseases among the farmers, gov-ernment should reform the payment methods, control the outflow of patients and improve the multi-level security sys-tem, in order to gradually reduce the poverty caused by diseases among farmers.

Objective To evaluate application feasibility of Array CGH in genetic diagnosis of clinical complex chromosomal abnormalities.Methods Two patients of genetic counseling and two patients of prenatal diagnosis were selected from Xiamen Maternity & Child Health Care Hospital during the period of December 2010 to December 2011.Under aseptic conditions 2-4 ml peripheral blood was collected in EDTA and 2-3 ml Cord Blood was collected through cordocentesis after genetic counseling and preoperative examination.G-banded chromosome analysis and genome DNA extraction were carried out on the four cases.The whole genome of four cases were scanned and analyzed by Array CGH.The results of Array CGH were confirmed by FISH.Results Array CGH detected different kinds of duplications and deletions in several chromosomes.Most of these duplications and deletions were not detected by karyotype analysis.The results of Array CGH showed duplication of 4p16.3-4p15.31,deletion of 4p16.3 in the first case,duplication of Xp11.22-Xq11.1 in the second case,duplication of 4p16.3-4p15.32,deletion of 2q37.3 in the third case and duplication of 2q21.2-2q32.1,deletion of 2q14.3-2q21.1 in the fourth case.These duplications and deletions were confirmed by FISH.Conclusions Compared with conventional cytogenetic analysis,Array CGH can not only accurately detect micro deletion and micro duplication with high resolution and sensitivity but also identify breakpoints precisely.Array CGH can provide the basis for clinical genetic diagnosis.

Objective To investigate the current status of conventionai diagnostic/therapeutic gastrointestinal (GI) endoscopy (conventional gastroscopy/colonoscopy and endoscopic polypectomy,et al.) in mainland China.Methods The survey was conducted by a questionnaire sent via e-mail or telephone to the hospital-based GI endoscopy units,including three levels of hospitals (Third-Grade Hospital Classification in China).Results From May 2010 to November 2010,169/279 (60.6％)units were enrolled,which covered 28 provinces (90.3％) in mainland China.Among the 169hospitals,147(87.0％ ) hospitals performed GI endoscopy,and all the hospitals performed gastroscopy (100％).Furthermore,100％ of the tertiary hospitals,and 93.9％ (138/147) of the second-level hospitals performed colonoscopy,significantly higher than that of the first-level hospitals (25.0％)(x2 =60.9,P＜0.01).All the tertiary hospitals (100％),and 79.8％ (71/89) of the second-level hospitals perform endoscopic polypectomy,significantly higher than that of the first-level hospitals (16.7％,x2 =20.0,P＜0.01,P＜0.05).Among the 147 hospitals with the ability to perform GI endoscopy,74 hospitals (50.3％) performed endoscopic retrograde cholangiopancreatography (ERCP).Furthermore,76.1％ (35/46) of the tertiary hospitals performed ERCP,significantly higher than that of the second-level hospitals (43.8 ％,39/89) (x2 =12.7,P＜0.01),and none of the 12 first-level hospitals performed ERCP,endoscopic ultrosonography (EUS) or EVL/EVS(endoscopic oesophageal varices ligation/sclerotherapy).Conclusions The conventional diagnostic GI endoscopy (routine gastroscopy and colonoscopy) was popularized in the tertiary and the second-level hospitals,and there was still much to improve for the first-level hospitals.With regard to the conventional therapeutic endoscopics,ERCP and EVL/EVS were more popular in the tertiary hospitals,while the second-level hospitals have much to improve.