Noonan syndrome(NS) is a congenital genetic disease characterized by distinctive facial features,short stature,chest deformity,congenital heart disease,and other comorbidities.This article reviewed the research history of NS,the clinical manifestations and their relationship with genotype,the diagnosis and treatment.

Objective To explore the radiation of the interventional diagnosis and treatment devices in some hospital of Hubei province to the circumstances and staffs.Methods The radiation shielding in the radiological workplace of the hospital was analyzed,and an evaluation model system was established based on dose equivalent level so as to estimate the shielding thickness of DSA machine room and the exposure dose to the staff.Results The designed shielding thickness of DSA machine room roof was tower than the theoretical one,while the designed thicknesses of other shields were higher than the theoretical ones,and the theoretical values of the east wall and roof in the DSA machine room were all higher than the limits of the national standards.The exposure doses to different parts and annual effective dose were all lower than the national limits.Conclusion The allocation of DSA machine room has to be optimized,and the staff gains satisfactory protection against radiation.

PURPOSE: It was reported that gene locus for generalized epilepsy with febrile seizures plus(GEFS+) exist in chromosome 19q13.1, and has relationship with a 387 C G mutation in the SCN1B gene. This study is to determine whether there is the 387 C G mutation in the children with GEFS+ and simple febrile seizures(FS). METHODS: The sample group consisted of 16 patients with GEFS+ and 10 patients with FS who were diagnosed by our department of pediatrics from Jan. 1998 to Dec. 1999. The control group consisted of 15 children who do not have seizure disorders. Genomic DNA was extracted from peripheral blood and a segment of the SCN1B exon 3 was amplified by PCR technique. Purified PCR products were treated with restriction enzyme, Hin P1. The restriction pattern was analyzed by sequencing analysis. RESULTS: Sixty nine%(11 of 16) patients with GEFS+ had family history for epilepsy, and epilepsy phonotypes were generalized tonic-clonic seizures in 82%(13 of 16), on the other hand 12%(2 of 16) and 6%(1 of 16) had absences and atonic seizures respectively. EEG findings showed generalized spike and wave in the all patients with GEFS+. in this study, however we could not observe a 387 C-->G mitation of the SCN1B in the children with GEFS+ and febrile seizures. CONCLUSION: The gene for GEFS+ may have a heterogenetic characteristics, and there may be racial differences in mutation frequency. Expanded studies involving large number of different families are required.
Child ; DNA ; Electroencephalography ; Epilepsy ; Epilepsy, Generalized* ; Exons ; Hand ; Humans ; Mutation Rate ; Pediatrics ; Polymerase Chain Reaction ; Seizures ; Seizures, Febrile*

AlM:To discuss the feasibility of microcoria optometry in screening for children ametropia. METHODS: Totally 217 school - age children were selected, included 94 first-grade students ( 6 ~ 8 years old) and 123 fourth-grade students ( 9 ~12 years old ) . Refractive diopter was measured with automatic refractor RM-8000 to evaluate the accuracy of micocoria optometry in screening ametropia.RESULTS: After cycloplegia, both the mean sphere diopter and cylinder diopter in grade one students changed significantly (P<0. 05), the mean sphere diopter in grade four students changed significantly (P<0. 05), while the mean cylinder diopter had no statistical difference ( P>0. 05 ) in grade four students. Different refractive type: before and after mydriasis spherical myopia, spherical equivalent difference was 0. 263 ± 0. 618 and 0.216±0.653D, with statistical significance (P<0.01);ln hyperopia group, spherical myopia, spherical equivalent difference was 0. 947±0. 946 and 1. 039±0. 984D, with statistical significance ( P = 0. 000 ). The lenticular difference between the two groups were not statistically different ( P > 0. 05 ). Choosing small pupil computer optometry for ≤- 1. 00D, ≥- 0. 50D child myopia or hyperopia could get more accurate value of diagnostic cutoffs, Youden index was 0. 672 and 0. 580. CONCLUSlON: Microcoria optometry can be as a effective method of screening of children with ametropia, but if for optometry, school-age children must accept mydriasis.

Objective To develop and verify a method for determination of residual host cell DNA in recombinant human interferon α2b substances, which is used for the quality control of the product.Methods The residual host cell DNA was extracted by wako DNA extractor kit and determined by SYBRGreen based q-PCR using standard DNA as control.The residual host cell DNA was analyzed according to the standard curve.The developed method was verified by primer specifity, results accuracy and precision and used for determination of 3 batches of interferon substances. Results The minimum quantitative limit of residual host cell DNA by the developed method was 12 fg/μL, while the linear range was 12 fg/μL-120 ng/μL, with a correlation coefficient (r) of 0.998.The designed primers were specific to the DNA templates.The recovery rates of spiked samples with different DNA quantity were between 50%-200%.The residual host cell DNA determined by this method were not more than the limit, which were complied with the requirements for residual host cell DNA in Chinese Pharmacopeia ( volume III,2010 edition and 2015 edition) .Conclusion The wako DNA extractor kit could successfully solved the technical difficulties of sample pretreatment during residual DNA assay.The q-PCR method was simple, rapid and accurate for quantitation of residual host cell DNA in interferon substances.

Objective: To evaluate the efficacy and safety of tirofiban infusion to infarct related vessels on patients with ST segment elevation myocardial infarction (STEMI) during emergency percutaneous coronary intervention (PCI). Methods: From Jan 2013 to Jun 2014, a total of 30 STEMI patients were enrolled as tirofiban group (tirofiban 500μg was infused to infarct related vessels during emergency PCI), and received intravenous drip of tirofiban 0.1 μg•kg-1•min-1 for 24h after stent implantation; another 31 STEMI patients were regarded as pure stenting group during the same period and they received direct stent implantation during emergency PCI. Computer-assisted Quantitative Blush Evaluator (QuBE) score, left ventricular ejection fraction (LVEF) during hospitalization and after six-month follow-up and incidence rate of major adverse cardiovascular events were compared and analyzed between two groups. Results: There were no significant difference in baseline data between two groups, P>0.05. Compared with pure stenting group, after six months, there were significant rise in QuBE score [(10.88±5.03) scores vs. (14.70±6.69) scores] and LVEF [(57.19±4.59)% vs. (59.80±5.34)%], and significant reduction in incidence rate of MACE (35.5% vs. 10.0%) in tirofiban group, P<0.05 all. Conclusion: Tirofiban application in infarct related vessels during emergency PCI in STEMI patients can effectively and safely improve myocardial microcirculation perfusion level and it is worth extending.

Objective To compare the safety of dopamine ( DA) and norepinephrine ( NE) in hypovolemic shock , and the impact on the stability of blood pressure and haemodynamics .Methods Eighty two patients with hypovolemic shock were given fluid resuscitation . All the patients were divided into two groups including DA group (n=41) and NE group(n=41).Recovery of blood pressure, hemody-namic parameters were observed at different time point , and the complications and mortality of two groups were recorded .Results Blood pressure of all the patients returned to normal in 15min after the medication, and became stable after 30min.There was no significant difference in the blood pressure in both groups except that of 15min.Compared with T0, There were higher in the numerous of CVP , CI, ELWI, ITBI.The ELWL at T2 in DA group was higher than that of NE group , while there was no significant difference in the other time points between the two groups(P>0.05).After treatment for 24 h, blood oxygen saturation, urine volume in two groups were significantly increased, blood lactic acid markedly reduced , but lactic acid in NE group was obviously lower than that in DA group (P<0.05).Com-pared with DA group, the incidence of arrhythmia cordis , 2-week mortality in NE group were significantly reduced (P<0.05), while the acute kidney injury in two group was not statistically different (P>0.05).Conclusion The effect of NE and DA in maintaining the stability of blood pressure and hemodynamic are equivalent , and NE did not increase the risk of acute kidney injury , but can effectively improve tissue perfusion , reduce arrhythmia and case fatality rate , improve clinical outcomes .

Objective To investigate susceptibility and antibacterial activity of cationic porphyfin derivative mediated photodynamic antimicrobial chemotherapy (CPD-PACT) against Pseudomonas aeruginosa,to provide experimental evidence for its high efficiency antibacterial activity.Methods The impacts of culture environments on minimum inhibitory concentration (MIC) were measured by double dilution method.The formation of inhibition zone was determined by diffusion plate method.The postantibiotic effect was analyzed by colony forming units.The viability and morphology of Pseudomonas aeruginosa were observed by confocal laser scanning microscopy (CLSM).Results The inoculum size of bacterial had a certain effect on the MIC.The MIC values increased as the pH of medium rose.When the calf serum content of culture medium increased,the MIC rose in light reaction and dropped in dark reaction.The diameter of inhibition zone mainly depended on the laser energy density,but not the concentration of photosensitizer.Though CPD possessed strong antimicrobial activity and persistent suppression on bacterial growth,the surviving Pseudomonas aeruginosa would soon continue to proliferate after PACT.The fluorescence images captured by CLSM showed that CPD-PACT could destroy the membrane integrity,leak the cytoplasmic component,decrease the bacterial activity and finally lead Pseudomonas aeruginosa to death.Conclusions CPD has strong inhibitory activity and obvious postantibiotic effect on Pseudomonas aeruginosa,which is suitable to be developed as an drug candidate for PACT.

This study is to determine the preventive effect and mechanism of targeting IL-17A on pulmonary inflammation and fibrosis after acute lung injury. Mice were treated with anti-IL-17A antibody on the day 7 and sacrificed on the day 14 after bleomycin lung injury. The pulmonary inflammatory status and the deposition of collagen were measured by HE and Sirius stains staining. The contents of hydroxyproline and collagen were measured by using commercial kits. The survival rate of mice was calculated by Kaplan-Meier methods. The inflammatory cytokines in bronchoalveolar lavage fluid were measured by ELISA and the expressions of inflammation-related molecules were detected by Western blotting assay. Targeting of IL-17A could prevent the development of lung inflammation, decrease collagen deposition and the contents of hydroxyproline, and protect against the development of pulmonary fibrosis, which together led to an increase in the animal survival. Moreover, blocking IL-17A decreased the expression ofpro-fibrotic cytokines such as IL-17A, TGF-beta1 and IL-13; increased the expression of anti-fibrotic or anti-inflammatory factors such as IFN-gamma, COX-2, 5-LOX, 15-LOX. Indeed, IL-17A antagonism suppressed the activation of pro-inflammatory p65NF-kappaB but enhanced the activation of pro-resolving p50NF-kappaB. In conclusion, that blockade of IL-17A prevents the development of pulmonary fibrosis from acute lung injury, is because blocking IL-17A may prevent acute inflammation converting to chronic inflammation.

Objective A high performance liquid chromatographic (HPLC) method was established for the determination of glycerol in propofol medium and long chain fat emulsion injection.MethodsThe chromatographic conditions were as follows: Kromasil 100-5-NH2 column(4.6×250mm,5μm) with the column temperature was 40℃,acetonitrile-water(8515)as mobile phase with flow rate of 1.0mL/min.Glycerol was detected by refractive index (RI) detector at 40℃.ResultsThe linear range of glycerol was 455.3916-2276.9580μg/mL(r=0.9999,n=7),the average recovery rate was 99.5%,RSD was 0.6%(n=9),the limit of detection(LOD) was 121ng and the limit of quantification(LOQ)was 364ng.ConclusionThe method was simple, rapid, strong specifity and accurate with good reproducibility, which is suitable for the content determination of glycerol in propofol medium and long chain fat emulsion injection.