Objective To explore the genetic mutation in neonates who failed to pass hearing screening.Methods A total of 111 cases of neonates who failed to pass hearing screening and were conifrmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted.GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed.Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) hadGJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) hadSLC26A4 gene mutation including 2 cases of IVS7-2A>G single heterozygous mutation, 3 cases of 1226G>A single heterozygous mutation, 2 cases of 2168A>G single heterozygous mutation, and 3 cases of IVS7-2A>G and 2168A>G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.

Objective To investigate the interventional effect of multidimensional strategy to reduce the incidence of neonatal ventilator-associated pneumonia.Methods The patients who were admitted to the NICU department and received mechanical ventilation (MV) for more than 48 hours from October 2012 to September 2014 were recruited. The control group received the experienced interventions from October 2012 to September 2013, neonates from October 2013 to September 2014 were recruited as the intervention group receiving multidimensional controlling strategy, including bundle care, education, pro-cess and outcome surveillance and feedback on the practices. The compliance of before-after implementation of interventions were quantitatively evaluated,and the rate of VAP was compared between the two groups.Results The compliance rate of hand hygiene and the qualiifed rate of sputum suction, oral care, drain condensation from ventilator circuit, semi-recumbent posi-tion, and preventing of stress-ulcers were increased 17.0%, 11.4%, 14.7%, 18.2%, 37.5% and 56.3% respectively after implemen-tation of multidimensional strategy, and had statistical difference (χ2=36.47-294.36,P<0.01). But the qualiifed rate of antibiotic use only was 66.1% in the post-VAP bundle phases, and showed no statistical difference before and after(P>0.05). The VAP rate was 41.7 cases per 1000 MV-days during control group and 19.7 cases per 1000 MV-days during intervention group, had statis-tical signiifcance (P<0.05). But the rate of ventilator application showed no statistical difference between two group (P>0.05). ConclusionThe multidimensional strategy can effectively prevent the incidence of VAP.

Objective To study the chemical kinetics characteristics in a new revised method with low usage amount of arsenic trioxide for determining urinary iodine by arsenite-ceric catalytic spectrophotometry using ammonium persulfate digestion,and to study the impact of operating bias in arsenite-ceric reaction temperature and reaction time on final results in this method.Methods The absorbances (A) of arsenite-ceric reaction of iodine standard series were measured at different reaction temperature and time,and the results were analyzed according to the chemical kinetics equation.The change values and half-life of A values of the new revised method and the current standard method were calculated.The chemical kinetics model of reaction system for this new revised method was deduced from experimental results.The calculation formula of result relative error for urinary iodine determination was deduced based on constants reaction temperature and reaction time and reaction rate constant factor.The result relative errors caused by operation deviation of reaction temperature or reaction time in the determination of urinary iodine were calculated.Results The usage amount of arsenious acid solution in the new revised method was only a quarter of usage amount of the current standard method(WS/T 107-2006).A values of each concentration of standard curve series at different reaction time t were obtained,the lnA to t mapping was a straight line,the linear correlation coefficients were-0.9995--0.9999.These results were in accord with the characteristic of chemical first-order reaction.Relationships between the reaction rate constant K and the reaction temperature T in the temperature range of 20-35 ℃ were well accord with Arrhenius equation.The A values and iodine concentrations (C) at various experimental temperatures showed good C =a + blnA linear relation,the absolute value of the linear correlation coefficient(｜ r ｜) ＞ 0.9990.After calculation and comparison of changes in the half-life of A values in the new revised method and in the original standard method at 20,25,30,35 ℃ reaction temperature,half-life of A values of 0-300 μg/L iodine standard series in the new revised method and in the original standard method were 191.0-11.4 min and 66.8-10.2 min at 25℃,respectively.Under the same conditions of 25 ℃ for 40 min,the gradient of A values of 0-300 μg/L iodine standard curve in the new revised method was similar to that of the original standard method(slope-133.7,-139.2,respectively).But differences between A values of standard curve and the reaction initial absorbance(A0) in the original standard method were 1.4 to 3.7 times those of the new revised method.A chemical kinetics model of reacting system for this method was established.A series of urinary iodine results relative error data were obtained when reaction temperature deviation was ± 1,± 0.5,± 0.3 ℃ or reaction time deviation was ± 1 min for sample test tubes.Data showed that relative errors of urinary iodine results caused by reaction temperature deviation or reaction time deviation in the new revised method were less than those of the original standard method.Conclusions The iodine-catalyzed arsenite-ceric reaction in the new revised method is a first-order reaction,when measuring 0-300 μg/L urinary iodine at 20-35 ℃,and 300-1200 μg/L urinary iodine at 20-30 ℃,the calibration relation of C =a + blnA is established when arsenite-ceric catalytic spectrophotometry is kept at a certain stable temperature and in certain stable reaction time.Compared with the original standard method,using the revised method with low usage amount of arsenic trioxide for measuring urinary iodine,the arsenite-ceric reaction rate is slow down.As a result,this method is easier to operate and has better precision and accuracy.

Objective:To investigate the correlation of single nucleotide polymorphisms (SNPs) in the PRRC2A gene with the susceptibility to sporadic breast cancer among Han women in Jiangsu Province, China. Methods:Using the genotyping technique of matrix-assisted laser desorption-ionization time-of-flight mass spectrometry, we analyzed the polymorphisms of an SNP (chr6_31697494) in gene PRRC2A in 214 breast cancer patients and 212 healthy controls admitted to the Huaian Maternal and Child Health Care Hospital. The genotype frequencies were analyzed using a Chi-square test between the case and control groups. Unconditional lo-gistic regression analysis for calculating the odds ratio (OR) and 95%confidence interval (95%CI) was conducted by analyzing the cor-relation between the susceptibility to breast cancer and genotypes. Additional analysis was then performed based on the immunohisto-chemical results of the estrogen receptor (ER) and progesterone receptor (PR). Results:The genotype frequencies for chr6_31697494 between the case and control groups were not significantly different (P>0.05). Further analysis indicated that the genotype frequencies of the site were significantly different in the ER (+/-) groups or the PR (+/-) groups (P<0.05). Heterozygous genotype (chr6_31697494, CT) was related to the breast cancers with ER (+) and PR (+) (OR=0.40, 95%CI:0.33-0.47;OR=0.49, 95%CI:0.43-0.57, respectively). Conclusion:No significant difference was found between the polymorphism of chr6_31697494 in the PRRC2A gene and the suscepti-bility to breast cancer among Han women in Jiangsu Province. The heterozygous genotypes were associated with breast cancer tissues with ER (+) and PR (+).

OBJECTIVETo observe the effect of magnesium sulfate, Nifedipine Tablet (NT) combined Salvia Injection (SI) on endothelin-1 (ET-1), nitric oxide (NO), thromboxane A2(TXA2), prostacyclin I2(PG2), and hemorheology of preeclampsia patients.

METHODSTotally 704 preeclampsia patients were randomly assigned to the treatment group and the control group, 352 cases in each group. All patients were treated with magnesium sulfate combined NT (on the first day: slow intravenous injection of magnesium sulfate 5 g + intravenous dripping of magnesium sulfate injection 10 g + oral administration of NT 30 mg; on the second and third day, intravenous dripping of magnesium sulfate injection 10 g + oral administration of NT 30 mg), while those in the treatment group were dripped with SI additionally at 20 mL per day for 3 consecutive days. Before and after treatment plasma levels of endothelin-1 (ET-1), nitric oxide (NO), TXA2, PGi2, and hemorheology indicators [such as high blood viscosity (HBV), low blood viscosity (LBV), plasma viscosity (PV), erythrocyte rigidity index (ERI), fibrinogen (FIB)] of two groups were detected.

RESULTSCompared with the same group before treatment, serum levels of ET-1, TXA2, HBV, LBV, PV, ERI, and FIB decreased in the two groups after treatment (P <0. 05), but levels of NO and PG2 increased (P <0. 05). Compared with the control group in the same period, levels of ET-1, TXA2, HBV, LBV, PV, ERI, and FIB decreased in the treatment group after treatment (P <0. 05), but levels of NO and PGI2 increased (P <0. 05).

CONCLUSIONMagnesium sulfate, NT combined SI could effectively regulate the balance of ET-1/NO and TXA2/PGI2, and improve hemorheology of preeclampsia patients.

Drug Therapy, Combination ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Endothelin-1 ; metabolism ; Epoprostenol ; metabolism ; Female ; Hemorheology ; Humans ; Injections ; Magnesium Sulfate ; administration & dosage ; pharmacology ; therapeutic use ; Nifedipine ; administration & dosage ; pharmacology ; therapeutic use ; Nitric Oxide ; metabolism ; Pre-Eclampsia ; drug therapy ; Pregnancy ; Salvia ; Tablets ; Thromboxane A2 ; metabolism

OBJECTIVE CYP2D is one of the most abundant subfamily of CYPs in the brain, especially in the cerebellum. Brain CYP2D is responsible for the metabolism of endogenous neurotransmitters such as tyramine and serotonin. Our previous studies have shown brain CYP2D can be regulated by exogenous and endogenous substances with tissue- specificity. The purpose of this study is to examine the effects of cerebral CYP2D on the mice behavior and the regulatory mechanism of brain CYP2D by growth hormone. METHODS Mice received the stereotaxic injection with CYP2D inhibitor quinine in deep cerebellar nuclei of cerebellum. The animals were tested with rotarod apparatus, balance beam, water maze, elevated plus maze and open field. The changes in CYP2D22, PPARαand PPARγ in brain regions and liver were assayed in male growth hormone receptor knockout mice, SH-SY5Y cells and HepG2 cells. RESULTS The inhibition of cerebellum CYP2D significantly affected the spatial learning and exploring ability of mice. Compared with WT mice, CYP2D expression was lower in brain regions from GHR(-/- ) male mice; however, hepatic CYP2D level was similar. Pulsatile GH decreased PPARα mRNA level, and increased mRNA levels of CYP2D6 and PPARα in SH- SY5Y cells. In HepG2 cells, pulsatile GH resulted in decreases in PPARα and PPARγ mRNA levels, but not CYP2D6. PPARα inhibitor induced CYP2D6 mRNA and protein by 1.32-fold and 1.43-fold in SH-SY5Y cells. PPARγ inhibitor decreased CYP2D6 mRNA and protein by 74.76% and 40.93%. PPARα agonist decreased the level of CYP2D22 mRNA in liver and cerebellum, while PPARγ agonist rosiglitazone resulted in diametrically increases. The luciferase assay showed that PPARγ actived the CYP2D6 gene promoter while PPARα inhibited its function. Pulsatile GH declined the binding of PPARα with CYP2D6 promoter by 40%, promoted the binding of PPARγ with CYP2D6 promoter by approximate 60%. The levels of brain and liver PPARα expression in male GHR(-/- ) mice is obviously higher than those in WT mice. The level of PPARγ in male GHR(-/- ) mice was decreased in the frontal cortex and hippocampus, while remained stable in the cerebellum and striatum; meanwhile, PPARγ was increased in the liver. CONCLUSION Brain CYP2D may be involved in learning and memory functions of central system. Masculine GH secretion altered the PPARs expression and the binding of PPARs to CYP2D promoter, leading to the elevated brain CYP2D in a tissue- specific manner. Growth hormone may specifically alter the metabolic and synthetic of important endogenous substances in the central nervous system (such as serotonin) through the specific regulation of brain CYP2D expression.

OBJECTIVETo investigate the therapeutic benefit of sequential interferon alpha-1b (IFNa-1b) in patients with hepatitis B e antigen (HBeAg)-positive chronic hepatitis B (CHB) who showed early complete response to telbivudine (LdT) treatment, and to explore the clinical value of serum hepatitis B surface antigen (HBsAg) for predicting sustained virological response (SVR).

METHODSTwenty HBeAg+ CHB patients who had shown a complete response to LdT therapy before treatment week 52 were divided into two treatment groups: one continued on the LdT treatment for an additional 6 months, and the other switched to IFNa-1b for 6 months. Each patient presented for follow-up examinations at 1, 2, 3, 6, 9, 12, 18, 24, 30 and 36 months after treatment cessation. Serum levels of alanine aminotransferase (ALT) and creatinine were detected by an automated biochemical analyzer. HBV DNA load was determined by real-time PCR. HBsAg and HBeAg levels were assessed by chemiluminescence.

RESULTSThe relapse rate was lower in the group treated with sequential IFN than in the group who continued LdT treatment (30% vs. 40%, P more than 0.05). The area under the receiver operating characteristic curve at week 24 (0.689) was significantly higher than at week 12 and week 48 (0.652 vs. 0.545, P less than 0.05). Decline in serum HBsAg levels at week 24 were predictive of SVR after treatment cessation. Patients showing a decrease more than 1000 IU/ml in serum HBsAg levels at week 24 had a significantly higher SVR rate than the patients who showed a decrease less than 1000 IU/ ml (90.9%(10/11) vs. 33.3%(3/9), P less than 0.05). At the end of treatment, patients showing a decrease less than 200 IU/ml of serum HBsAg levels had a significantly higher SVR rate than those showing more than 200 IU/ml (100% vs. 53.3%, P less than 0.05).

CONCLUSIONSequential IFNa-1b consolidation therapy does not reduce the rate of relapse after treatment cessation. However, patients with a decrease in serum HBsAg levels of more than 1000 IU/ml at treatment week 24 are more likely to achieve SVR.

Adult ; Female ; Hepatitis B Surface Antigens ; blood ; Hepatitis B e Antigens ; blood ; Hepatitis B, Chronic ; blood ; drug therapy ; Humans ; Interferon-alpha ; administration & dosage ; therapeutic use ; Male ; Middle Aged ; Recurrence ; Thymidine ; administration & dosage ; analogs & derivatives ; therapeutic use ; Treatment Outcome ; Viral Load ; Young Adult

OBJECTIVETo investigate the predictive value of CEA and CA19-9 in tumor progression, prognosis and neoadjuvant chemotherapy of advanced gastric cancer.

METHODSClinical data of 322 patients with advanced gastric cancer(54 cases undergoing neoadjuvant chemotherapy) from the Affiliated Oncologic Hospital of Guangzhou Medical College were reviewed. Serum CEA and CA19-9 levels were detected by electrochemiluminescence immunoassay, while the expression of CEA and CA19-9 protein in 54 pairs of tumor tissues and matched biopsies neoadjuvant chemotherapy were determined by immunohistochemistry.

RESULTSThe expression levels of serum CEA and CA19-9 were closely related to tumor invasion, lymph node metastasis and TNM stage(all P<0.05). The 5-year cumulative survival rates of patients with serum CEA-positive and CA19-9-positive were 17.0% and 11.9%, compared with 34.6% and 34.8% of the patients with serum CEA-negative and CA19-9-negative respectively (both P<0.05). Neoadjuvant chemotherapy could down-regulate CEA and CA19-9 expressions in tumor tissues(P<0.05), while there was no significantly difference in serum level(P>0.05).

CONCLUSIONSThe expressions of serum CEA and CA19-9 are closely associated with tumor progression and prognosis in advanced gastric cancer. However, further study should be done to evaluate their value in selecting patients to receive neoadjuvant chemotherapy.

CA-19-9 Antigen ; blood ; Carcinoembryonic Antigen ; blood ; Humans ; Immunohistochemistry ; Lymphatic Metastasis ; Neoadjuvant Therapy ; Neoplasm Staging ; Prognosis ; Stomach Neoplasms ; diagnosis ; therapy ; Survival Rate

OBJECTIVEReceptor activity-modifying proteins (RAMPs) determine the ligand specificity of the calcitonin receptor-like receptor (CRLR); co-expression of RAMP1 and CRLR results in a calcitonin gene related peptide (CGRP) receptor, whereas the association of RAMP2 or RAMP3 with CRLR gives an adrenomedullin(ADM) receptor. As CGRP and ADM may play a beneficial role in heart failure, this study aimed at the question whether RAMPs mRNAs are changed in heart failure.

METHODSSemi-quantitative reverse transcription-PCR (RT-PCR) was used to detect and quantify the mRNAs of RAMP1 and RAMP3 in the atria of heart failing patients.

RESULTSIt was found that the expressions of RAMP1, RAMP2 and RAMP3 mRNAs increased with the worsening of heart function, but the expressions of RAMP1 and RAMP2 mRNA decreased at level IV of heart failure.

CONCLUSIONThe above results demonstrated in the atria of heart failure patients an up-regulation of CGRP receptor by an increase of RAMP1 in association with CRLR and an up-regulation of ADM receptor by an increase of RAMP2 expression in association with CRLR, thus suggesting that CGRP and ADM receptors be playing a functional role in compensating the chronic heart failure in human.

Adult ; Calcitonin Receptor-Like Protein ; Female ; Heart Atria ; metabolism ; Heart Failure ; genetics ; physiopathology ; Humans ; Intracellular Signaling Peptides and Proteins ; genetics ; physiology ; Male ; Membrane Proteins ; genetics ; physiology ; Receptor Activity-Modifying Protein 1 ; Receptor Activity-Modifying Protein 2 ; Receptor Activity-Modifying Protein 3 ; Receptor Activity-Modifying Proteins ; Receptors, Adrenomedullin ; Receptors, Calcitonin ; genetics ; physiology ; Receptors, Calcitonin Gene-Related Peptide ; genetics ; physiology ; Receptors, Peptide ; genetics ; physiology ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVETo investigate magnetic resonance imaging (MRI) characteristics of ovarian carcinosarcoma and the diagnostic value of MRI.

METHODSThe MRI features of ovarian carcinosarcoma and clinical data of 5 patients with ovarian carcinosarcoma were reviewed. All the lesions were confirmed by surgery and pathological examination.

RESULTSMRI of ovarian carcinosarcoma in the 5 cases all showed large tumor mass and heterogeneous high-intensity on T2-weighted images and low-intensity on T1-weighted images, with laminar or stripe-like enhancement. Hemorrhage and necrosis were also displayed in some lesions. In two cases, the tumors invaded the greater omentum, sigmoid colon and the body of the uterus, with regional lymph node involvement. Pelvic effusion was observed in all the cases with pelvic hematocele in 1 case.

CONCLUSIONMRI is useful in the detection and staging of ovarian carcinosarcoma.

Aged ; Carcinosarcoma ; diagnosis ; pathology ; Female ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Ovarian Neoplasms ; diagnosis ; pathology ; Retrospective Studies