Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Objective To investigate the effects of continuous nursing quality improvement on emergency care of parturient with preeclampsia.Methods The parturient with preeclampsia in the First Affiliated Hospital of the Medical University Of Anhui from January 2010 to December 2015 were chosen.The effects of continuous nursing quality improvement on the emergency care of those parturient were analyzed and the maternal and infant health outcomes and patient satisfaction were contrasted.Results The surgical complication rate of the observation group patients was significantly lower than that of the control group (P＜0.001).The overall health outcome of maternal and infant patients in the observation group was significantly better than that of the control group (P＜0.000) Patient satisfaction of the observation group was significantly higher than that of the control group (P＜0.000)Conclusion Continuous nursing quality improvement model can not only ensure the quality of eclampsia patient care but also keep on improving the care quality so as to improve maternal and infant health outcomes and patient satisfaction.

Objective The hearing and speech rehabilitation effects by hearing aid use and cochlear implanta‐tion in hearing -impaired children were compared .Methods A total of infants aged from 6 months to 3 years with severe hearing loss of prelingual nature were included .They were divided into 2 groups :group 1 (18 with hearing aids) and group 2 (14 with cochlear implantation) .There was no significant difference in the degree of hearing loss and age between the 2 groups .They received rehabilitation education of the same content for a year .Their unaided and aided thresholds were tested in sound field while the IT -MAIS was used for evaluating hearing ability of two groups before and after 3 ,6 ,9 ,and 12 months of hearing aid use and cochlear implantation .Results In both groups ,hearing were better in aided conditions than those of in unaided ,while those from the cochlear group were significantly improved at more frequencies than those of the hearing aid group .In general ,the longer use and train‐ing ,the better hearing improvement .The mean scores of auditory performance in the cochlear implantation group at 6 months were significantly higher in comparison with those at 3 months (P<0 .05) .There were significant differ‐ences in mean scores between the two groups at 6 ,9 ,12 months after fitting (P<0 .05) .The verbal ability scores ,hearing and speech rehabilitation levels in the cochlear group were higher than those of in the hearing aid group (P<0 .05) .Conclusion For severe hearing loss children ,cochlear implantation could produce more noticeable effects than hearing aids .

Objective To study the prognosis of infants with bronchiolitis by testing urine leukotriene E4 (LTE4) level and investigating atopy's influences. Methods Urine LTE4 was tested in 38 eases with mild bronchiolitis (47 in acute stage, 17 in convalescent stage), 9 severe bronchiolitis cases, 15 atopic cases, 25 control cases. Peripheral blood was used to determine eosinophils count (EC) in acute bronchiolitis cases. Results (1) The level of urine LTE4 is obviously higher in cases of acute group (62.11 ± 12.23 pmol/L) than that of control group (22.19±1.50 pmol/L) , and the convalescent group (34.86 ±5.75 pmol/L) (F = 132.42, P < 0.01) ;Urine LTE4 level of convalescent group is higher than that of the control group (P < 0.01). (2) Urine LTE4 level is significantly higher in severe group (98.04 ± 8.04 pmol/L) than that of mild group (59.16 ± 12.25 pmol/L) (t = 9.92, P < 0.01). (3) Urine LTE4 level of atopy positive (88.75 ± 10.45 pmol/L) infants with bronchiolitis is significantly higher than atopy negative infants (55.28 ± 11.44 pmol/L)(t = 8.63, P < 0.01). (4) There is no significant correlation between the levels of urine LTE4 and EC for acute bronchiolitis. Condusions The level of urine LTE4 in acute bronehiolitis patients increases and remains high in convalescent stage;Higher urine LTE4 level in severe bronchiolitis cases indicates that urine LTE4 level is related to the severity of the disease;cysteinylleukotrenes is an important mediator of inflammation that may influence the prognosis of atopy positive infants with bronchiolitis;EC is not a good index to present the airway inflammation of infants with bronehiolitis.

Objective To investigate the changes of cerebral blood flow and the level of brain injury in a rat model of deep hypothermia low flow(DHLF).Methods Twelve SD rats aged 3 weeks were randomly divided into sham group and model group.Regional cerebral blood flow(rCBF)of all rats was measured continuously during the operation by laser Doppler flowmetry,and the changes of rCBF were measured before temperature decreased,when the temperature decreased to(21.0±0.5)℃,0-5 minutes,25-30 minutes,55-60 minutes,115-120 minutes during DHLF and 0-5 minutes after DHLF operation.Another 60 SD rats aged 3 weeks were randomly divided into sham group and model group.Six rats of each group were sacrificed at 1,6,24,72 hours and 7 days after DHLF operation to detect the pathological changes of the brain and the neuronal apoptosis by HE staining and TUNEL assay.The neurological deficit score(NDS)was recorded at 24,72 hours and 7 days after operation for evaluating the neurologic functional outcome.ResultsWhen the temperature was decreased to(21.0±0.5)℃,the levels of rCBF of sham group and model group were significantly decreased to(41.1±4.2)% and(40.7±3.4)% of the baseline value,and the rCBF level of model group was further decreased to(15.7±3.5)% of the baseline value 0-15 minutes during DHLF(P ＜ 0.01),with no obvious changes in all the time intervals during DHLF.Compared with the sham group,the scores of NDS of model group were significant lower at 24 and 72 hours after operation(P ＜ 0.05 or 0.01).Besides,a significant pathological change of the brain tissue and a increased percentage of TUNEL-positive staining cells were observed in model group at 6,24,72 hours and 7 days after operation(P ＜ 0.01).Conclusions Rat model of DHLF is an ideal and reliable model of brain injury,for it is similar to DHLF procedure of clinical cardiac operation.

BACKGROUNDThe accuracy of clinical TNM staging correlates with appropriate treatment in patients with lung cancer. The aim of this study is to evaluate the agreement between clinical and surgical-pathological staging in patients with lung cancer and analyze its cause in detail.

METHODSOne hundred and fifty patients with lung cancer treated surgically from 2000 were enrolled randomly. Clinical and surgical-pathological staging of them were made respectively according to the International System for Staging Lung Cancer newly revised by UICC. Then concordance was determined between the two staging results with Kappa value, and difference in coincident rate was analyzed among subgroups of T staging.

RESULTSFor T staging, the agreement was excellent (Kappa value=0.729), however, the coincident rate of T3 or T4 was significantly lower than that in T1 or T2 group (P < 0.01). The agreement of N staging was poor (Kappa value=0.108), followed by a disappointed conformity of TNM staging (Kappa value=0.287).

CONCLUSIONSClinical T staging based on CT can indicate the location and size of primary tumor precisely. But the borderline may be difficult to estimate when tumor site is near chest wall or mediastinum, so some patients with clinical T4 still have chances to receive complete resection. The conformity of N staging is rather poor. The key point to improve the accuracy of clinical TNM staging should be to seek more reliable techniques for evaluating N status.

Objective:To explore the changes of cerebra flow in retroperitoneoscopic surgery.Methods: Twenty-two patients undergoing retroperitoneoscopic surgery were selected.We measured Vm、Delt and PI with transcranial Dopple(TCD),and measured endothelin(ET),neurol peptide Y(NPY),Calcitonin gene-related peptide(CGRP) in plasma before CO2 insufflation,after CO2 insufflation,and after CO2 deflation.Results:Vm and Delt increased significantly at 30 min after pneumoperitonenum,and reached the peak at 90 min after pneumoperitonenum.PI decreased significantly 90 min after pneumoperitonenum.The plasma concentrations of ET and NPY increased significantly 60 min after pneumoperitonenum. Conclusion:Cerebra flow changes significantly in patients undergoing retroperitoneoscopic surgery,which is correlated to the changes of plasma CO2 and vascular bioactive substances.