Copy number variations in the human genome,one of the causes of complex diseases and genetic diseases,can lead to genomic disorders.As these diseases are difficult to diagnose,it is significantly meaningful to conduct genetic researches and molecular diagnosis.Chromosomal microarray can be used to detect copy number variations on a genome-wide scale.With the advantage of high throughput and resolution,chromosomal microarray is perceived as an important means of identifying copy number variations in genomic disorders.As technology advancements of chromosomal microarray and accumulations of clinical experiences,chromosomal microarray has played a significant role in etiological diagnosis of multiple malformations,mental retardation and autism.

Objective To investigate the significance of detection of Serum anti‐Helicobacter pylori(HP)and pepsinogen(PG) in patients with reflux esophagitis(RE) .Methods 118 RE patients (RE group) ,60 patients with other other gastropathy (other gas‐tropathy group) and 60 healthy subjects (healthy group) were detected serum HP antibodies ,PG levels ,compared serum PGⅠ ,PGⅡ level ,PGR and HP antibody positive rate between the RE group ,the other gastropathy group and the healthy group ,between the patients at different pathological degrees of the RE group .Results The levels of PG Ⅰ ,PGR and HP antibody positive rate of the RE group were lower than those of the other gastropathy group and the healthy group ,the healthy group was lower than the other gastropathy group ,the difference was statistically significant (P<0 .05) ,and compared with the control group ,there was no signifi‐cant difference in serum PG Ⅱ levels (P>0 .05);The serum PGⅠ level ,PGR and HP antibody positive rate of patients in grade A , B of the RE group were lower than those of the patients in grade C ,D (P<0 .05) ,the difference was statistically significant ,and there was no statistical significance in serum PG Ⅱ levels of the patients in grade C ,D (P>0 .05) .Conclusion The serum PGⅠlevel ,PGR and HP antibody positive rate of the patients with RE decrease ,HP infection is a protective mechanism of RE ,the dis‐ease exacerbates with the infection decreases ,detection of serum HP antibody and the level of PG has important clinical value in the diagnosis and prognosis of RE .

Objective To investigate the clinical value of NT‐proBNP and cTnI detection in the diagnosis and treatment of con‐gestiveheartfailure.Methods 198patientswithcardiovascularwereastheresearchobjects,95caseswithHFwereasHFgroup, 103 caseswithout HF were as control group ,compared left ventricular ejection fraction (LVEF) and serum NT‐proBNP ,cTnI levels of patients ,and compared LVEF ,serum NT‐proBNP ,cTnI levels of patients with different cardiac functions ,analysed the correla‐tion between serum NT‐proBNP ,cTnI levels and LVEF in patients with HF ,and analysed the diagnosic value of NT‐proBNP ,cTnI combined detection and single detection on HF .Results LVEF and serum NT‐proBNP ,cTnI levels of the HF group were higher than those of the control group(P<0 .05) ,LVEF of the HFgroup decreased significantly when cardiac function classification in‐creased ,serum NT‐proBNP ,cTnI levels increased significantly ,there were statistically significant differences in the indices between the three groups(P<0 .05) ,serum NT‐proBNP ,cTnI was inversely related to the level of LVEF (r= -0 .536 ,-0 .328 ,P<0 .05);proBNP ,the specificity ,positive predictive value and accuracy in the diagnosis of HF byproBNP 、cTnI combined detection improved obviously than the single detection ,compared with cTnI the specificity ,accuracy rate ,there was difference significant(χ2 =4 .595 , 21 .648 ,P=0 .032 ,0 .000) .Conclusion It has important clinical value Serum NT‐proBNP ,cTnI levels detection for the diagnosis and judgment of HF .

Objective To investigate the change of apoptosis and drug resistance after multiple thermotherapy On the HepG2 Cell. Methods After HepG2 cell were treaded by ten repeated cycles of exposure at 43 degree C for 80 minutes twice a day，the sensibility of HepG2 cell to Adfiamyein was analyzed by MTr assay.The apoptosis Was detected by kit，and the expression of Bcl-2 or Bax protein and mRNA were detected by immunohistochemical method and RT-PCR respective.Results The drug resistance to Adfiamycin Was gained by HepG2 cell after multiple thermotherapy.The rate of apoptosis was decreased，the expression of Bcl一2 protein and mRNA Was strengthened，and the ratio of Bcl-2/Bax increased.Conclusions The resistance of heated HepG2 cell to chemotherapeutics Was related with the decreased rate of apoptosis，overexpression of Bcl-2 protein and mRNA，and increased ratio of Bcl-2/Bax.

Objective To investigate therapeutic effect and mechanism of hyperbaric oxygen and ulinastatin respectively or combinatively used to treat acute necrotizing pancreatitis (ANP). Methods One hundred and twenty SD rats were divided into 6 groups randomly: group of normal control, group receiving sham operation, group of untreated acute necrotizing pancreatitis (ANP group), group of acute necrotizing pancreatitis treated with hyperbaric oxygen (HBO group), group of acute necrotizing pancreatitis treated with ulinastatin (ULT group), and group of acute necrotizing pancreatitis treated with combined hyperbaric oxygen and ulinastatin (HBO+ULT group). The rat model of acute necrotizing pancreatitis was established according to Aho HJ et al. Concentrations of amylase, TNF?, TXB-2 and 6-keto-PGF- 1? in blood were measured through ELISA or radioimmunoassay. Changes of pancreatic histopathology were investigated. SPSS 10.0 was used in statistical analysis. Results The concentrations of amylase, TNF?, TXB-2 in the ANP-treated groups were significantly lower than those of ANP group (P

Objective To investigate the expression change of ghtathione S-transferase π(GSTπ)protein and mRNA in the HepG2 cell after multiple thermotherapy.Methods HepG2 cells were treaded by ten repeated cycles of exposure at 43 degree C for 80 minutes twice a day，the sensibility of HepG2 cell to Adriamycin was analyzed by MTr assay，and the expression of QSTπprotein and mRNA were detected by immunohistochemical method and RT-PCR.Results The drug resistance to Adriamycin was gained by HepG2 cells after multiple thermotherapy，and the expression of GSTπ protein and mRNA wag strengthened.Conclusions The resistance of heated HepG2 cells to chemotherapeutics was concerned with overexpression of GSTπ protein and mRNA.

Objective To study the effect of hyperbaric oxygen(HBO) treatment on plasma endotoxin,sCD14 and plasma endotoxin inactivation capacity(EIC) in acute necrotizing pancreatitis(ANP) in rats and its possible mechanism.Methods SD rats were randomly divided into control group,sham operation group,ANP group and ANP+HBO group.Rat ANP models were made by retrograde injection of 3.5% sodium(taurocholate)(2.5mL/kg) into the pancreatic duct.Thirty minues after models had been made,ANP+HBO group was treated by hyperbaric oxygen for 2h.At 3h,6h,and 10h after establishment of rat models,the plasma endotoxin,sCD14,EIC,TXB_2 and 6-K-PGF_(1a) leves were determined in each group.Results At 3h and 6 h after rat models were established,the levels of endotoxin,sCD14,and TXB_2 in ANP+HBO group were significantly lower than those in ANP group(P

renal dysfunction.Logisitic regression showed that cardiovascular disease and hypoalbuminemia were correlated with perioperative death rate significantly. Conclusions Improving the perioperative management is very important for lowering the perioperative mortality in elderly patients with digestive tract disease.

Objective To investigate the Relationship between the CYP2C19 polymorphism and the efficacy of triple therapy with lansoprazole on Helicobacter pylori infection. Methods 125 elderly patients diagnosed with H.pylori infection were treated with triple therapy. Polymorphism of CYP2C19 was measured by AS-PCR. 105 young patients were selected as control group. The relationship between the polymorphism and eradication rate were analyzed. Results Among the 125 patients,eradication rate of extensive metabolizer group,internal metabolizer group and poor metabolizer groups was 85.29%,76%and 89.39%, respectively. There was no significant difference between groups (P > 0.05). Eradication rate showed no difference between experimental and control group either (P>0.05)(P>0.05). Conclusion The results suggests that the CYP2C19 polymorphism has no correlation with the eradication rate of Helicobacter pylori infection by triple therapy with lansoprazole in elderly patients.

OBJECTIVE: To study the expression of intedeukin-5 (IL-5) mRNA and protein in Nasal polyps and in the inferior turbinate, and to explore the relationship between the expression and the Clinical features. METHOD: Real time fluorescent quantitative PCR(RT-qPCR) and immunohistochemical staining were used to detect the expression of intedeukin-5 (IL-5) mRNA and protein in nasal polyps of 24 cases and in inferior turbinate of 15 cases. RESULT: The expression of IL-5 mRNA in Nasal polyps was 7.52 times higher than that in the inferior turbinate (P < 0.01). The expression rate of IL-5 protein in Nasal polyps was 79.17%, significantly higher than that in the inferior turbinate (26.67%) (chi2 = 10.52, P < 0.01). The differece of expression of IL-5 mRNA was not associated with the sexual distinction, unilateral or bilateral nasal polyps and primary or recurrent nasal polyps (P > 0.01), but was associated with the single or multiple nasal polyps, nasal polyps with or without allergic rhinitis and/or asthma. The differece of expression of IL-5 protein was not associated with the sexual distinction, unilateral or bilateral nasal polyps, primary or recurrent nasal polyps, nasal polyps with or without allergic rhinitis and/or asthma, but was associated with the single and multiple nasal polyps. CONCLUSION The high expression of IL-5 mRNA and protein is closely related with the formation edema and development of nasal polyps. Some clinical features of Nasal polyps related to the expression level of IL-5 in nasal polyps.
Female ; Humans ; Interleukin-5 ; genetics ; metabolism ; Male ; Nasal Polyps ; metabolism ; RNA, Messenger ; genetics ; Turbinates ; metabolism