Chromosomal microdeletion and microduplication syndromes are common genetic diseases.Technologies including fluorescence in situ hybridization , chromosomal microarray , real-time PCR, multiplex ligation-dependent probe amplification and high-throughput sequencing have been used to detect these diseases . The advantages and limitations of these technologies as well as their clinical applications in the detection of chromosomal microdeletion and microduplication syndromes are analyzed . (Chin J Lab Med, 2016, 39:407-409 )

Functional Science Lab.Of Jining Medical College has attempted to reform the management system,share the resource,improve the resource utilization,exceed the limits of science,modify the contents of experimental courses,innovate the teaching methods,pay attention to teacher training.Through longtime research and practice,we have gained the significant achievements.

Objective To evaluate the clinic value of multiple tumor markers plus PSA in diagnosing prostate cancer.Methods We collected serum samples of 140 prostate cancer patients with average age of 68 (48-82) years,104 benign prostate hyperplasia patients with average age of 70 (52-87) years,and 162 healthy people with average age of 38 (23-49) years.We had detected PSA levels and also the protein expressions of XAGE-1b,SSX-2,AM ACR and AKAP4.In healthy people,the ranges of the normal values with 95％ data range were determined.Multiple tumor markers and PSA were calculated their positive rate,specificity and sensitivity in diagnosing prostate cancer.We had randomly chosen one positive serum,and analyzed the 4 protein expressions by Western bolt.We detected the serum with the four markers plus PSA by Luminex medthod,then drew ROC curve and calculated AUC area according to the results.Results Among all those samples,PSA levels of 266 samples were under 4tμg/L,86 samples were between 4-10 μg/L,and 54 samples were above 10 μg/L.The positive rates of XAGE-1b,SSX-2,AMACR and AKAP4 in prostate cancer patients were 53.6％ (75/140),34.3％ (48/140),27.9％ (39/140),44.3％ (62/140) respectively.The AUC of XAGE-1b,SSX-2,AMACR,AKAP4 and PSA were 0.666,0.615,0.551,0.768,0.675 respectively.The AUC of their combination was 0.887; The specificity and sensitivity of single PSA detection and combination detection were 60.0％,46.2％ and 80.0％,82.2％.Among those whose PSA value was between 4-10 μg/L,the AUC of single PSA detection was 0.505,the specificity and sensitivity of single PSA detection were 43.2％ and 31.8％; the AUC of the combination detection was 0.803; their specificity and sensitivity were 83.7％ and 73.2％.Conclusions Compared with the single PSA detection,the combination of XAGE-1b,SSX-2,AMACR,AKAP4 and PSA has been greatly improved the specificity and sensitivity in prostate cancer detection.This tool still has significant value even in patients with PSA value between 4-10 μg/L.

Designing experimentation is the most important phase in function experimentation teaching,and a simulation process of science research.Students choose the topic freely,design schema and practice by themselves.Based on pathophysilolgy,the article has practiced functional designing experimentation among the students of clinical medicine in 2006 grade.Results indicated that the practice of designing experimentation is helpful for raising general diathesis and innovative ability of students,and it will be the focus of function experimentation innovation in future.

Hypoxia is the most common tumor microenvironment caused by rapid proliferation of tumor cells, and hypoxia-inducible factor (HIF) is the main transcription factor for tumor cells to adapt to hypoxia. Current research has found that HIF can interact with a variety of mesenchymal cells such as fibroblasts, endothelial cells and immune cells in the tumor microenvironment, leading to the transcription and expression of target genes in response to hypoxia, which ultimately promotes tumor angiogenesis, and induces physiological changes such as migration, invasion, and immune escape of tumor cells. However, the signaling pathways involved in the HIF regulatory mechanism are complex, and the mechanism of HIF in the tumor microenvironment need to be further investigated, also most HIF inhibitors are still in the preclinical research stage. This paper reviews the research progress on the effects of HIF on tumor mesenchymal stromal cells to provide a theoretical basis for the diagnosis, prevention and treatment of tumors targeting HIF.

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 compare the short-term clinical effect of the foam sclerotherapy combined with Melilotus Extract Tablets vs foam sclerotherapy alone in treating varicose veins of the lower extremities.Methods A retrospective cohort study was carried out in 120 cases receiving foam sclerotherapy in the Invasive Technology Department of Panyu District Central Hospital.Seventy-two patients in trial group wore graduated compression stockings and received oral use of Melilotus Extract Tablets after the operation,while 48 cases in the control group only wore graduated compression stockings after the operation.The follow-up for the two groups lasted for 3 months.We recorded the relief of symptoms (pain,soreness and distention) and physical signs (edema,hyperpigmentation,ulcer) after the operation.The grading levels of clinical-etiology-anatomic-pathophysiologic classification system (CEAP) for lower limb venous disease,venous clinical severity scores (VCSS) and disease quality-of-life questionnaire CIVIQ scores were observed before and after the operation.Results (1) Three months after the operation,the illness state of the two groups was improved to certain degree,and the differences of CEAP grading levels were insignificant(P ＞ 0.05).(2) VCSS and CIVIQ scores of the two groups were improved after the operation (P ＜ 0.01 compared with those before the operation),and the trial group had better effect on improving CIVIQ scores than the control group (P ＜ 0.01).(3) The successful rate of the trial group was 88.89％,and that of the control group was 81.25％,the difference being insignificant (P ＞ 0.05).(4) Time for obvious relief of lower limb symptom in the trial group was shorter than that in the control group (P ＜ 0.05),but the time for hyperpigmentation and ulcer disappearing as well as the medical expenses in the trial group did not differ from those in the control group (P ＞ 0.05).Conclusion Foam sclerotherapy combined with Melilotus Extract Tablets is effective,safe and economical for the treatment of varicose veins of the lower extremities,and its efficacy is superior to foam sclerotherapy alone.

Objective To investigate the effect of video-assisted thoracoscopic surgery( VATS) in thoracic disease,and the feasibility to carry out VATS for basic hospital. Methods The data of VATS treatment were collected to compare the differences between study group and control group,and evaluate the the feasibility to carry out VATS for basic hospital. Results The operation time was (100. 75±22. 72) min, blood loss was (54. 27±26. 21) mL,postoperative drainage was (920. 67±171. 99) mL. The postoperative complications were fewer,post-operative hospital stay was shorter,incision time was shorter(P=0. 000) and pain scores was lower(P=0. 000) in study group than that in control group. Basic hospital has the capacity to conduct this technical. Conclusion VATS is feasible to carry out in basic hospital.

Objective To investigate the clinical operating skills of the ultrasound-guided percutaneous transhepatic bile duct puncture drainage(PTCD),and improve the success rate.Methods 60 cases of tumor-induced obstructive jaundice underwent ultrasound-guided percutaneous transhepatic bile duct puncture drainage were retrospectively analyzed and summarized.Results 60 cases were all punctureed successfully,and the success rate was 100％.A puncture needle patients which was successfully accounted for 88％ (53 cases).No obvious puncture complications were found.Conclusion Preoperative fully prepared for surgery the appropriate action can improve the ultrasoundguided percutaneous bile duct through the success rate of bypass,there is helpfal to reduce the puncture complications.

ObjectiveTo investigate the effectiveness and feasibility of intraoperaive recurrent laryngeal nerve(RLN) monitoring via lateral cricoarytenoid muscle(LCA) compound muscle action potential (CMAP) monitoring by bipolar electrode implanting. MethodsSeventy-four cases were evenly divided into nerve monitoring group and non-monitoring group,NIM-Response 2.0 was applied into monitoring group for intraoperative nerve monitoring.A bipolar electrode was inserted into LCA to record CMAP,stimulating electrode intermittently stimulated exposed or unexposed recurrent laryngeal nerve to monitor the RLN function during cervical operation under the block anaesthesia of cervical plexus. ResultsThere were no statistically significant differences (P ＞ 0.05 ) in postoperative hospitalization days (5.14 ± 1.44 days,5.05 ± 1.31 days),operation time ( 125.54 ±42.23 min,107.30 ± 39.36 min) between monitoring group and the control group.Thirty-two RLNs were mapped their anatomical course with the NIM-Response 2.0 assistance before exposure,and 25 RLNs were anatomically exposed.The stimulating threshold between unexposed RLN (2.23 ± 0.57 mA) and exposed RLN ( 0.44 ± 0.20 mA) were statistically different ( P ＜ 0.01 ),but the evoked EMG amplitude(307.98 ± 253.47 μV,234.36 ± 142.18 μV) were not statistically different (P ＞ 0.05 ).With the NIM-Response 2.0 assistance the course of the unexposed RLNs detected were consistent to the course of the RLNs when exposed completely.ConclusionsIt is a effective and feasible method to monitor the RLN function by recording the CMAP of lateral cricoarytenoid muscle(LCA) via bipolar electrode implanted into LCA under block anaesthesia of the cervical plexus.