ABSTRACT
Background Congenital aniridia is a rare bilateral hereditary ophthalmopathy which impact panocular.Researches showed that congenital aniridia can be caused by different mutation locus of PAX6 genes,and the mutations are multifarious.Objective This study was to detect and anaiyze the mutations of a Chinese family with congenital aniridia by using targeted sequence capture sequencing and direct Sanger sequencing.Methods This study was approved by Ethic Committee of the First Affiliated Hospital of Zhengzhou University and followed Declaration of Helsinki.Written informed consent was obtained from subjects or their custodians before any related medical examination.A cross-sectional study was performed.A Chinese congenital aniridia family was included at the First Affiliated Hospital of Zhengzhou University in March,2016.All the family members received systemic medical examinations including nervous system and oral glucose tolerance test and then the ocular examinations were carried out.The periphery blood of 10 ml was collected from the members for genomic DNA extraction.Targeted sequence capture sequencing was performed on the DNA of proband to screen out the suspicious mutant locus.The mutation was verified by comparing the Sanger direct sequencing results from all family members.Results A total of 3 generations of 9 members were included in this congenital aniridia pedigree,and the Ⅰ 1 was dead without eye abnormality.Three patients (Ⅱ2 and her children Ⅲ1,Ⅲ2) and 5 normal family members were determined,showing an autosomal dominant inheritance pattern.No abnormal signs were found in nervous system and oral glucose tolerance test in the families.The reduce of visual acuity,ocular hypertension (21 mmHg),absence of biocular iris,opacification of corneal stroma,horizontal nystagmus,hapoplasia of fovea were found in all the sufferers.In addition,the ptosis of the left eye,congenital cataract of the right eye in Ⅱ 2 patient as well as biocular cataract and subluxation of lenses also were exhibited.The c.183C＞A mutation of the PAX6 gene was screened out to be a possible pathogenic mutation.The result of Sanger direct sequencing in the families verified a co-segregation of this mutation with mutant phenotypes.Conclusions PAX6 gene c.183C ＞A,a rare mutation in Chinese population,is a virulence mutation site in this aniridia family.
ABSTRACT
Objective To investigate the effects of electroacupuncture (EA) on spatial learning and memory ability, long-term potentiation (LTP) and synaptophysin (Syp) levels in the dentate gyrus of the hippocampus.Methods Forty Sprague-Dawley rats were randomly divided into a sham-operated control group, a model group, an EA group and a medication group. A rat model of vascular dementia (VD) was established by repeated ischemia and reperfusion after pretreatment with sodium nitroprusside. EA was applied to the rat homologues of the human "Baihui" (GV20) and "Dazhui" (DU14) acupoints of the rats in the EA group for 20 min, once daily for 10 d.Morris water maze tests were conducted for evaluating the rats,learning and memory ability. LTP in the hippocampal dentate gyrus was recorded as an electrophysiological index for evaluating learning and memory. Antigenic Syp produced in hippocampal tissue was examined with immunohistochemical assays. Results In comparison the with model group, escape latency (EL) shortened and target-platform crossing times increased significantly in the EA and medication groups. After high frequency stimulation the population spike (PS) latency shortened in the EA group compared with the model group, and the excitatory postsynaptic potential (EPSP) slope and PS amplitude increased.All of these differences were statistically significant. Syp positive cells also increased significantly in the EA-treated rats. Conclusions EA can increase Syp expression and improve the learning and memory ability of rats with this model of VD. EA could facilitate the induction and maintenance of LTP in the dentate gyrus of the hippocampus through influencing synaptic transmission.
ABSTRACT
OBJECTIVE To investigate deep fungal hospital infection and methods of its decreasing. METHODS Case histories of near 3 years of hospitalized patients from Jan 2002 to Dec 2004 were analyzed according to Diagnosis Standard of Nosocomical Infection under the items,such as the patients,age,underlying disease,sample,strain,and species distribution. RESULTS There were 360 fungus strains belonged to 15 species in all samples;the patients age was 14-94 with 20 kinds of various underlying diseases;the fungi included Candida albicans,and C.tropicalis,accounted for 61.1% and 17.2%,respectively;the samples were sputum,urine,vaginal secretion,BLA,throat swab and pus,which were 42.2%,21.1%,13.9%,8.4%,5.8%,and 3.6%,respectively;the respiratory department,ICU,and urology department were mainly involved. CONCLUSIONS To prevent fungal infection, measures such as hospital′s environment and management including reasonable use of antibiotics play a great role in monitoring hospital fungal infection and its epidemiology.