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.

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.

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 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.

Objective To understand how serum DHEAS levels change with sex,age and stage of sexual maturation in children and adolescents and explore the relationship between adrenarche and pubertal maturatiotL Methods Serum samples from 120 healthy boys,198 healthy girls and 152 girls with idiopathic central precocious puberty (ICPP) were examined for DHEAS.Referenee ranges for healthy children and adolescents and statistical difierences between heahhy girls and ICPP girls were analyzed with respect to sex,age and stage of sexual maturation.Results Both healthy children and ICPP girls showed extremely low levels of serum DHEAS and they were not related to sex.age or tanner stages in the individuals below age of 6 years.Serum DHEAS levels were positively related to both age (above age of 6 years)and tanner stage in healthy groups(r=0.69 and 0.71 respectively,P＜0.01).After the onset of puberty,serum DHEAS levels appeared to be higher in boys than that in girls within the same tanner stage(P＜0.05).Within the individusis in the same age group with same sex.serum DHEAS levels increased along with pubertal development.While within the individuals in same tanner stage group with salne sex after puberty onset.serum DHEAS levels showed no significant difference among different age groups.For example.there was no difference in serum DHEAS levels of healthy girls in tanner stage Ⅲ among different age subgroups(age of8-9;age of 10-11,age of 12-13)and the mean vallie of serum DHEAS was 532.0-557.8μg/L(F=0.21,P=0.98).In different age subgroups above age of 6 years,Z scores for serum DHEAS in ICPP girls were highher than them healthy ones with advanced tanner stages(0.97us-0.1 and 1.39us-0.08,JP≤0.01)In different tanner stage subgroups.Z scores for serum DHEAS showed no difierence between healthy and ICPP girls despite apparent different age ranges(0.00 us-0.31-0.18,P＞0.05).Conclusions Serum DHEAS level increased along with both age (above 6 years) and tanner stage in healthy children and adolescents.There was no gender difference until the onset of puberty.It was demonstrated that adrenache and gonadarche were related to each other.Reference ranges for adolescents should be interpreted according to sex.age and tanner stage simultaneously.

Objective To review our experiences of diagnostic methods and surgical treatment of the left superior vena cava (LSVC) draining into the left atrium.Methods Nineteen patients with LSVC draining into the left atrium were diagnosed and treated surgically from February 1998 to January 2012.All the cases were combined with other congenital heart diseases including patent ductus arteriosus,ventricular septal defect,atrial septal defect,single atrium,triatriatum,partial endocardial cushion defect,anomalous pulmonary venous drainage,right ventricle outflow stenosis,pulmonary valve stenosis,tetralogy of Fallot,double outlet right ventricle,complete endocardial cushion defect,tricuspid atresia.The patients were diagnosed through different methods including echocartiographic examination,cardiac catheterization,computer tomography,and explored during the operation,even postoperatively.All were treated surgically with four techniques including simple ligation to the LSVC,including ligation during a redo procedure; intra atrial rerouting to drainage the flow from the LSVC to the right atrium,atrial septum reconstruction to make the outlet of the LSVC lying in the right side of the patched atrial septal,and bidirectional Glenn shunt to get a physiological result.Results No mortality postoperatively.All the cases were uneventful postoperatively.And the main postoperative course was related only to the main diagnosis of congenital heart disease,not to the left superior vena cava draining into the left atrium.The echo examination result was satisfied before the discharge.The early and long term follow-up(1-11 years) results are excellent,no arrhythmia,no cardiac deficits after echo examination,including stenosis obstruction and residual shunt.No death.Conclusion The diagnostic methods of the LSVC draining into the left atrium are difficult,the only way to make the diagnosis clearly enough before the operation is depending on improving of more and more comprehending to this rare cardiac anomaly,by the pediatric cardiologists,the sinologist,the intensive care unit,and the pediatric cardiae surgeons.The choice of different surgical treatment is depending on the diagnosis and the findings during the operations,and the results are excellent after a suitable choice made.

OBJECTIVETo explore the effect of Jingui Shenqi pill (JGSQP) with various concentrations at different time points on pituitary adrencorticotropic hormone (ACTH) gene expression level in Shen-Yang deficiency rats.

METHODSThe Shen-Yang deficiency rats were randomly divided into the model control group and the high, medium and low dosage of JGSQP groups. Reverse transcriptase polymerase chain reaction was used to observe the effect of JGSQP on the ACTH mRNA of pituitary tissue in rats treated at different time points (10 d, 20 d, 30 d).

RESULTSAs compared with that in the model group, the ACTH gene expression level was significantly higher in the high dose JGSQP group (P < 0.05), and the increment in the medium dosage group was significantly higher in comparing with that in the high and low dosage groups (P < 0.05 or P < 0.01).

CONCLUSIONThrough up-regulation on ACTH gene expression is possibly one of the mechanisms of JGSQP in treating Shen-Yang deficiency.

Adrenocorticotropic Hormone ; biosynthesis ; genetics ; Animals ; Drugs, Chinese Herbal ; pharmacology ; Hypothalamo-Hypophyseal System ; Kidney Diseases ; genetics ; metabolism ; Medicine, Chinese Traditional ; Pituitary Gland ; metabolism ; RNA, Messenger ; biosynthesis ; genetics ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Yang Deficiency ; genetics ; metabolism

Objective To explore the mutation of androgen receptor(AR)gene in a patient with 46,XY disorder of sex development(DSD)and to improve the diagnostic level and understanding of androgen insensitivity syndrome(AIS).Methods The clinical data of the child was analyzed,including physical examination,relevant laboratory examination,karyotype,pelvic B ultrasound,pelvic magnetic resonance imaging(MRI)and AR gene mutation.The peripheral blood of the child and his parents were drawn,and peripheral blood DNA was extracted.The polymerase chain reaction(PCR)-DNA sequencing method was used to amplify all exons of the AR gene in the child and his parents.Then,they were directly sequenced.Results A 7-years and 2-months old child who suffered from DSD,revealed physical examination that the child had normal female external genitalia,as the clitoris length was 2.0 cm×0.8 cm,with visible vaginal opening,and there were masses at bilateral inguinal region,with a size of 1.5 cm×0.8 cm.The results of human chorionic gonadotropin(HCG)stimulation test:testosterone was 0 nmol/L,androstenedione was 1.78 nmol/L,dihydrotestosterone was 0.07 nmol/L before HCG was injected;but testosterone was 4.69 nmol/L,androstenedione was 2.10 nmol/L,dihydrotestosterone was 0.33 nmol/L after HCG was injection.Sex chromosome analysis reported 46,XY karyotype.Pelvic B ultrasound revealed the absence of a uterus and ovaries and the presence of bilateral testes like gonad at each side of internal inguinal ring,with a size of 1.4 cm×1.0 cm×0.8 cm in the left,1.5 cm×0.7 cm×0.8 cm in the right;but the kidney,ureter,urinary bladder,adrenal gland and retroperitoneal for B ultrasound revealed no abnormality.Pelvic MRI(non-enhanced and enhanced)showed the presence of a blind ending vagina between rectum and urinary bladder(40 mm in depth)and the absence of uterus and ovarian tissue.DNA sequencing found one c.1685T>C heterozygous mutation(p.Ile562Thr)on exon 2 of AR gene in the child.But retrieving and summarzing documents of the domestic and foreign information databases and websites,the locus mutation of AR gene had never been reported.The structure prediction of the mutated protein(Polyohen2 and SIFT software)was significantly changed.By verifying the locus site of the parents of this child,it was found that his mother carried the same mutation,but his father was found to be normal.Conclusions A c.1685 T>C mutation(p.Ile562Thr)on exon 2 of AR gene is a novel mutation.Combined with the patient's clinical manifestations and computer prediction results,it may suggest that the novel mutation of AR gene can lead to the occurrence of AIS.

Objective To explore the safety of unilateral percutaneous kyphoplasty (PKP) in treating osteoporotic vertebral burst fracture.Methods All 25 osteoporotic vertebral burst fracture cases (25 fracture segments) treated from April 2014 to July 2015 were analyzed retrospectively.In 25 cases,there were 17 males and 16 females,aged from 58.0 to 88.0 years with a mean age of 76.6 years.All patients included in the study had preoperative thoracic or lumbar X-rays,CT reconstruction and MR fatsuppression sequence scan in order to definite fracture sites and the integrality of the posterior wall of fracture vertebral.The unilateral PKP were performed by the same operator.All patients included in the study had postoperative thoracic or lumbar X-rays,and CT reconstruction to observe the bone cement leakage.After patients were out of hospital,X-rays were done regularly.The types of bone leakage were recorded.The pre-and post-operational anterior and posterior wall and the kyphotic angle were measured by one doctor.Results The scores of VAS at the first day after operation and the end of follow up decreased compared with the pre-operative scores:(2.8 ± 1.2),(2.4 ± 1.6) scores vs.(6.4 ± 2.6) scores,and there were significant differences (P ＜ 0.05).The kyphotic angle at the first day after operation and the end of follow up decreased compared with the pre-operative,but there were no significant differences (P ＞ 0.05).The post-operative height of vertebral anterior wall increased at the first day after operation and the end of follow up compared with the pre-operative:(21.7 ± 5.0),(21.4 ± 4.1) mm vs.(20.3 ± 3.8)mm,and there were significant differences (P ＜ 0.05).The post-operative height of vertebral posterior wall increased at the first day after operation and the end of follow up compared with the pre-operative,but there were no significant differences (P ＞ 0.05).The above index at the first day after operation and the end of follow up had no significant differences (P ＞ 0.05).Conclusions The unilateral PKP in treating osteoporotic vertebral burst fracture is safe and reliable.Clear image display,skillful puncture techniques and suitable injection timing are necessary factors for a successful operation.

The efficacy of vertebroplasty and percutaneous kyphoplasty in treatment of osteoporotic compression fracture was widely recognized recently.But the complication of bone cement pulmonary embolism was severe and it can threaten life.In this article,the incidence,pathogenesy,risk factors,symptom,auxiliary examination,treatment and prevention of bone cement pulmonary embolism were reviewed.