Objective To explore the value of prenatal diagnosis and sonographic features of Joubert syndrome and related disease (JSRD). Methods From April 2013 to August 2013, a fetal suspected hydrocephaly and the child of the same family were studied in Southern Medical University Afifliated Shenzhen Maternity&Child Healthcare Hospital. The fetal underwent ultrasonographic imaging, magnetic resonance imaging, genetic test and autopsy. The propositus underwent magnetic resonance imaging, genetic test and clinical test. The magnetic resonance imaging and ultrasonographic imaging features of the JSRD were analysed. Results (1) Ultrasound results:′cleft sign′was detected because of the fetus cerebellar vermis dysplasia. The width of left ventricle was 2.3 cm. (2) MRI results:Both the fetal and the propositus showed′molar tooth sign′and′cleft sign′. (3) Genetic test results:Both of them had the mutations of CC2D2A gene at chromosome 4p15.32. (4) Fetal autopsy results:fetal cerebellar vermis hypoplasia and cerebellar hemispheres moved closer to the midline. (5) Clinical test result:the propositus had poor audio-visual reaction, looked instability, poor head-eye coordination, upper eyelid lifting fatigue, mental retardation and ataxia. His mouth crooked when he was crying. (6) The electroencephalogram results:the EEG with abnormal 3-4 Hz coming from occipital cortex showed poor sleep background. Frontal area launched sharp wave frequently. It was more obvious on the right area. Conclusions It is easy to diagnose JSRD according to the′molar tooth sign′,′cleft sign′,′bat wing sign′and the clinical features. The′molar tooth sign′on prenatal MRI may prompt JSRD risk, but it is not speciifc. Prenatal ultrasonographic features of cerebellar vermis hypogenesis provide some clues for the diagnosis.

To investigate the effects of gensenoside Rg1 on expressions of phosphorylated tau protein (P-tau), protein phosphatase 2A (PP2A) and tau protein in Alzheimer's disease-like tau phosphorylation rat brain slices, and to explore the mechanisms of gensenoside Rg1 in inhibiting tau phosphorylation.

Objective To investigate the epidemiology and relevant risk factors of invasive fungal infection (IFI) in hospital old patients for non-respiratory tract. Methods Seventy-eight patients of IFI in non-respiratory tract were enrolled in this investigation. The incidence and risk factors of IFI were analyzed by prospective case-control study. Results In 78 old patients, 84 strains were isolated from different parts, and the most was Candida spp 82 strains (97.62%,82/84), followed by Candida albicans 55 strains (67.07%,55/82), Candida glabrata 13 strains ( 15.85%, 13/82), Candida krusei 6 strains (7.32%, 6/82), Candida tropicalis 4 strains (4.88% ,4/82), Candida parapsilosis 3 strains (3.66% ,3/82), Candida lusitaniae 1 strain ( 1.22%, 1/82). Aspergillus 2 strains (2.38%,2/84). Multivariate Logistic regression analysis showed that age, pathogen detection time, underlaying disease,glucocorticoids, immunosuppressants were the risk factors for IFI in non-respiratory tract. Conclusions Candida albicans is the main pathogens of Candida infections in old patients. To efficiently control the risk factors should be emphasized in old patients, including early diagnosis and treatment underlying diseases, appropriate use drugs, right to shorten hospital stay.

The aim was to investigate the effect of particle size on transfection efficiency of chitosan (CS)-based nanoparticles. Nanoparticles were synthesized through complex coacervation CS with plasmid DNA (pDNA). Three kinds of pDNA/CS nanoparticles with different sizes (250, 580 and 1300 nm) were prepared by altering the adding rate and the vortexing time. The particle size, zeta potential and the stability in cultural medium were evaluated by zetasizer. The association efficiency was determined by spectrofluorophotometer. The combination of chitosan with pDNA as well as the ability to protect pDNA from nuclease degradation was analyzed by gel electrophoresis. The transfection efficiency of pDNA/CS nanoparticles in HEK293 cells was investigated by flow cytometry. Using CS grafted fluorescein isothiocyanate as a fluorescent marker, the adsorption features of the nanoparticles were visualized by fluorescence microscopy and the cellular uptake percent was quantitated by flow cytometry. The internalization process of the nanoparticles was visualized by confocal laser scanning microscopy (CLSM) using nanoparticles of the size of 250 nm. Results showed that the three kinds of pDNA/CS nanoparticles had no differences in zeta potential, association efficiency, protection ability, stability and transfection efficiency in HEK293. The nanoparticles were all adsorbed on cell surface in the form of aggregates, and similar cellular uptake percent as well as quantities were observed 4 h post-incubation with HeLa cells. CLSM images showed that the aggregates below 2 microm could be internalized by endocytosis. These results suggest that the transfection efficiency of pDNA/CS nanoparticles does not depend on particle size in the range from 250 nm to 1300 nm.
Chitosan ; administration & dosage ; chemistry ; metabolism ; DNA ; administration & dosage ; Endocytosis ; Genetic Vectors ; HeLa Cells ; Humans ; Nanoparticles ; Particle Size ; Plasmids ; Transfection

Purpose The mean pulmonary artery (MPAP) has been widely used as an important parameter to diagnose and evaluate pulmonary hypertension (PH).The purpose of this paper is to compare the efficacy of two methods in evaluating PH,including estimating pulmonary artery systolic pressure (PASP) using Doppler ultrasonography to measure tricuspid regurgitation (TR) velocity,and directly using the peak velocity of TR.Materiasl and Methods From January 2012 to June 2013,eighty patients with left-to-right shunt congenital heart diseases (CHD) planned for closure procedure in Tangdu Hospital of the Fourth Military Medical University and the General Hospital of Shenyang Military region were included in this prospective study,who underwent right heart catheterization to measure pulmonary artery pressure,and underwent Doppler ultrasonography to measure the peak velocity ofTR.Results Using catheter-measured MPAP of≥ 25 mmHg as diagnostic reference,the false positive rate was 62.96％,and the false negative rate 0％ when the estimated PASP of ＞30 mmHg determined by TR method was used to diagnose PH.There was high diagnostic agreement when peak velocity of TR was used to diagnose PH.When 320 cm/s and 340 crn/s were used as diagnostic cutoff values,false positive rates were 14.81％ and 7.41％,and false negative rates were 15.91％ and 20.45％,respectively.Conclusion In patients with left-to-right shunt CHD,peak velocity of TR measured on echocardiography can be used to diagnose PH which overcomes the high false positive rate in estimation method.It is more suitable to diagnose PH when the MPAP is used as the diagnostic criterion.

Reduction capacity ( RC ) is an important index to evaluate the redox ability of dissolved organic matter. In order to determine the RC, hydrophilic organic fractions ( HyI ) isolated from dissolved organic matter extracted from the uncomposted and composted samples were used as electron donators and mediators, and three kinds of irons were chosen as electron acceptors. The results showed that, the RC values from the composted sample were 15. 88, 13. 41 and 51. 45 mmol e -/mol C for the electron acceptors Fe2(SO4)3, Fe(NO3)3 and FeCit, respectively, which were higher than the corresponding values (13. 45, 11. 77 and 43. 16 mmol e-/mol C) from the uncomposted sample. The electron acceptor type shows a dramatic influence on the RC value of HyI. The RC value determined by FeCit was obviously higher than that measured using Fe2( SO4 ) 3 and Fe( NO3 ) 3 , and the microbial reducing capacity of the HyI was lower than the corresponding native reducing capacity. By analyzing the special absorbencies ( SUVA254 and SUVA280 ) , absorbance ratios ( A2/A3 and A4/A6 ) and integrated area from UV-vis spectra, it can be found that the RC was affected by aromatic degree, unsaturated conjugated structure, and molecular weight. Excitation-emission matrix spectra coupled with regional integration analysis showed that the relative content of humic-like substances ( humic-like acids and fulvic-like acids) was the main factor influencing the RC value of HyI. The results obtained can be used to characterize the redox properties of HyI, and reveal its role in the transformation and degradation of pollutants during composting.

Objective To examine the effects of exogenously administered intermedin (IMD,adrenomedullin-2) on arterial blood pressure,cardiac function and the cardiovascular IMD receptor system in spontaneously hypertensive rats (SHRs) as well as to investigate the associated mechanisms.Methods Thirteen week-old male rats were divided in Wistar Kyoto (WKY) group (n =12),SHR group (n =12),IMD group (SHRs infused with IMD 1-47 500 ng/kg per hour,n =12),and ADM group (SHRs infused with adrenomedullin 500 ng/kg per hour,n =12).Results A two-week continuous administration of low dose IMD 1-47 via mini-osmotic pumps markedly reduced blood pressure,the maximal rates of increase and decrease of left-ventricle pressure development (LV ± dp/dtmax),left ventricular systolic pressure and heart rate in SHRs.Furthermore,IMD also inhibited protein over-expression of cardiovascular IMD receptors,myocardial Receptor Activity-Modifying Proteins (RAMP1 and RAMP2),aortic RAMP1,RAMP2,RAMP3,and calcitonin receptor-like receptor (CRLR);suppressed up-regulation of aortic RAMP1,RAMP2,RAMP3 and CRLR gene expression; and markedly elevated the mRNA abundance of myocardial atrial natriuretic peptide (ANP) and myocardial brain natriuretic peptide (BNP).Additionally,IMD 1-47 administration in SHRs increased aortic cAMP concentration and reduced myocardial cAMP concentration.Conclusion These findings support the speculation that IMD,as a cardiovascular active peptide,is involved in blood pressure reduction and cardiac function amelioration during hypertension.The mechanism underlying this effect may involve IMD binding of a receptor complex formed by RAMPs and CRLR,and consequential regulation of cAMP levels and other cardiovascular active factors,such as ANP and BNP.

Animals ; Dose-Response Relationship, Drug ; Male ; Mice ; Mice, Inbred Strains ; Nickel ; toxicity ; Oxidative Stress ; physiology ; Testis ; drug effects ; metabolism

Objective To evaluate the development of cerebral sulci and gyrus in fetuses with conotruncal defect(CTD) at the second and third trimester by ultrasound,and to improve clinician′s understanding of the cerebral cortical development in fetuses with CTD.Methods The study was conducted at Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medicial University from December 2015 to January 2017,enrolled 180 women with single fetus,among whom 60 fetuses with CTD and gestational age between 20 weeks to 33+6 weeks were diagnosed by echocardiographic examination.CTD included persistent truncus arteriosous,tetralogy of fallot,transpofition of the great arteries and double outlet of right ventricle.Evaluation indexes of cerebral sulci and gyrus included depth and angle of parietooccipital sulcus,width and depth of sylvian fissure,uncovered width of insular,uncovered insular ratio,depth of calcarine sulcus,head circumference;evaluation indexes of hemodynamics included umbilical artery resistance index,umbilical artery pulsation index,middle cerebral artery resistance index,middle cerebral artery pulsation index,the cerebral-to-placental resistance ratio and the cerebroplacental pulsation ratio.Above indexes were measured for statistical analysis.Results At the whole gestational age in the study,depth of parietooccipital sulcus and width of sylvian fissure in CTD fetuses were smaller than those in the control group,uncovered insular ratio was larger than that in the normal group(P<0.05);middle cerebral artery resistance index,middle cerebral artery pulsation index and the cerebroplacental pulsation ratio in CTD fetuses were lower than those of the control group (P<0.05).Conclusions The change of hemodynamics in fetuses with CTD may be one of the reasons that fetuses with CTD have cerebral cortical hypoevolutism.

OBJECTIVE: To investigate the development of early vocabulary capability in the prelingual deaf children after cochlear implantation (CI) , and to study the feasibility of current Chinese assessment procedures about language development for hearing-impaired children. METHOD: A total of 56 cases with severe-to-profound prelingual deaf children were participated in this study. The vocabulary development of CI children were evaluated by trained audiologists using the vocabulary assessment tools: Chinese communicative development inventory (CCDI) and mandarin expressive and receptive vocabulary test (MERVT). The questionnaire assessed by parents or guardians answered the questionnaire; vocabulary tests were evaluated by children accompanied with audiologists. Patients were assessed before operation and in 2 years after switch-on. RESULT: With the rehabilitation, early post-operative vocabulary development gradually improved. The vocabulary increased with an increase in the duration of CI use, and the receptive vocabulary developed earlier than the expressive ones. CONCLUSION After 2 years of CI use, the child partly developed the vocabulary capability. Children's vocabulary test, CCDI and MERVT test, is an important index to evaluate the development of children's language ability after cochlear implantation. Vocabulary test, together with auditory and speech perception assessment procedures, constitute a more complete auditory-speech-language evaluation system for Chinese children after cochlear implants.
Asian Continental Ancestry Group ; Child ; Cochlear Implantation ; Cochlear Implants ; Deafness ; therapy ; Follow-Up Studies ; Humans ; Language ; Language Development ; Language Tests ; Speech ; Vocabulary