OBJECTIVE: Explore the relationship between the pathogenic mutations of SLC26A4 gene and inner ear malformation, and analyze the feasibility of genetic testing to help current diagnosis in part of children with sensorineural hearing loss. METHOD: 2094 cases of children were detected by SLC26A4 with the method of DNA sequence. CT phenotypes of those children were classified according to the method proposed by Sennaroglu. We analyzed the relationship between the pathogenic mutations of gene and the CT phenotypes. RESULT: (1) 685 cases of inner ear malformations were found in 2094 cases of children with sensorineural hearing loss by CT examination (371 cases of cochlea malformation were consisted of the follow types of malformation. Michel deformity was 6 cases, cochlea aplasia was 8 cases, common cavity deformity was 12 cases, incomplete partition type I was 27 cases, cochlea hypoplasia was 30 cases and Mondini malformation was 288 cases); Vestibular aqueduct was 265 cases; Vestibular/semicircular canal/internal auditory canal were 49 cases, normal was 1409 cases. (2) The DNA sequence results revealed that 465 cases carried pathogenic mutations (Bi-allelic mutations) of SLC26A4 gene, among which 135 cases were homozygous, 330 cases were compound heterozygous. (3) Pathogenic mutations of SLC26A4 gene detected 100% (465/465) in the group related to vestibular aqueduct malformation. CONCLUSION The results suggest that pathogenic mutation of SLC26A4 gene is closely related to the CT phenotype of vestibular aqueduct malformation. Detecting of pathogenic mutations for hearing loss is binging the possibility to identify children with inner malformations at an early stage. As a consequence, it will improve the current diagnosis and therapeutical option.
Alleles ; Child ; Cochlea ; Deafness ; Ear, Inner ; abnormalities ; Genetic Testing ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; Phenotype ; Semicircular Canals ; Sulfate Transporters ; Temporal Bone ; Vestibular Aqueduct ; Vestibule, Labyrinth

OBJECTIVE: Analyze the data of the patients with sensorineural hearing loss in China and study the classification and incidence of inner ear malformationsby the high-resolution computed tomography. METHOD: The investigation took a retrospective review of CT findings relating to the 2,747 cases of outpatients. The inner ear malformations diagnosed by CT were classified according to the methods proposed by Sennaroglu. RESULT: (1)843 cases of inner ear malformations were found in 2747 cases of patients with sensorineural hearing loss by CT examination. The incidence of inner ear malformation was 30.69%(843/2747). (2) The epidemiological information of 843 cases of inner ear malformation according to Sennaroglu's classification was as follows: cochlea was 52. 31%(441/843), simple vestibular aqueduct was 40.33%(340/843), simple vestibular/ semicircular canal/internal auditory canal were 7. 35%(62/843) of the group. (3) 441 cases of cochlea malformation were consisted of these types of malformation: Michel deformity was 1.13% (5/441), cochlear aplasia was 1. 81% (8/441), common cavity deformity was 3. 17% (14/441), incomplete partition type I was 8. 62% (38/441), cochlea hypoplasia was 9. 07% (40/441) and incomplete partition type II was 76. 19% (336/441) of the group. CONCLUSION The results suggested that 30. 69% cases of inner ear malformation can be found in patients with sensorineural hearing loss, which is more higher than reported by the high-resolution computed tomography. Sennaroglu's classification is instructively significant in investigating the status of inner ear malformations.
China ; Cochlea ; Ear, Inner ; abnormalities ; Hearing Loss, Sensorineural ; etiology ; Humans ; Outpatients ; Retrospective Studies ; Semicircular Canals ; Temporal Bone ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; Vestibule, Labyrinth

Objective To investigate the correlation between regional cerebral oxygen saturation (rSO2) value and the prognosis of comatose patients in the intensive care unit (ICU).Methods From January 2013 to September 2014, a total of 64 comatose patients admitted in the department of ICU were enrolled.The patients were divided into two groups : consciousness group (n =25) and coma group (n =39).The level of the Glasgow coma scale (GCS), APACHE Ⅱ score and Full Outline of UnResponsiveness score (FOUR) of patients were monitored.The rSO2 was measured by Somanetics INVOS 5100 monitor.Results The differences in levels of FOUR and GCS at admission and GCS at discharge between the two groups were statistically significant (P ＜ 0.05).In the consciousness group, the levels of GCS、 FOUR and rSO2 were higher compared with the coma group (P ＜ 0.05).ROC curve analysis revealed that the areas under the curve of GCS, FOUR and rSO2 for predicting prognosis were 0.823 (0.718-0.928), 0.820 (0.728-0.912) and 0.924 (0.863-0.985) respectively.Conclusions The rSO2 was useful for estimating the prognosis of comatose patients in general ICU.

OBJECTIVE Study the role of mycoplasma infection and expression of Ki67 protein in the pathogenesis, development and prognosis of laryngeal carcinoma. METHODS Immunohistochemistry method was used to study 145 specimens of laryngeal carcinoma tissues, 25 specimens of precarcinoma tissues, 31 specimens of vocal cord polyps and 15 specimens of normal tissues adjacent to laryngeal carcinoma. RESULTS ①The positive rates of PD4 and Ki67 were 45.52%(66/145) and 82.76 % (120/145) in laryngeal carcinoma tissue, 16.00 % (4/25) and 32.00 % (8/25) in precarcinoma tissue, 12.90 % (4/31) and 22.58 % (7/31) in vocal cords polyps, 6.67 % (1/15) and 0 (0/15) in normal tissues adjacent to laryngeal carcinoma. ②The positive rates of PD4 and Ki67 were higher in the advanced laryngeal carcinoma cases than that in the early laryngeal carcinoma cases. The positive rates of PD4 and Ki67 were higher in laryngeal carcinoma cases with cervical metastasis than that laryngeal carcinoma cases without cervical metastasis(P

Objective To evaluate the effects of therapeutic hypothermia on both neurological status and survival rate in patients after cardiac arrest.Methods The data were searched from MEDLINE,PubMed,EMBASE,Cochrane Library,Wanfang database,CNKI and CBM.The randomized and controlled trials were selected for evaluating the main outcomes of neurological status and survival rate in patients after cardiac arrest.Meta-analysis was carried out by using Review Manger 5.0 software.The results were expressed in risk ratio (RR) for dichotomous outcomes data with 95％ confidence intervals (CI),and P ＜ 0.05 was considered to be significant.Results Eight randomized controlled clinical trials with a total of 1 512 patients met our inclusion criteria.The overall risk ratio of favorable neurological status was 1.34 (95％ CI:1.01-1.78,P ＜0.05) and of survival rate was 1.09 (95％ CI:0.98-1.20,P ＞0.05) with therapeutic hypothermia compared with controls,however,when the applications of conventional cooling trials were analyzed,the risk ratio was 1.51 (95％ CI:1.22-1.87,P ＜0.01) and 1.36 (95％CI:1.13 -1.63,P ＜ 0.01),respectively.Conclusions Patients treated with therapeutic hypothermia after cardiac arrest had more favorable neurological status compared with the controls.There was no benefit of therapeutic hypothermia to survival rate identified.Compare with conventional cooling methods,the therapeutic hypothermia could improve neurological status and survival rate in patients after cardiac arrest.

AIM: To illustrate the expression of hypermethylation p15 gene in 53 non-Hodgkin’s lymphoma (NHL). METHODS: The methylation of p15 gene in 53 cases of non-Hodgkin’s lymphoma was detected by using methylation-specific PCR (MSP) technique. RESULTS: 18.9% (10/53) in NHL were methylation in p15 gene. p15 gene was frequently in high malignant NHL patients (27.3%) compared with in low malignant patients (0%). CONCLUSION: The result suggested that the hypermethylation of p15 may play an important role in non-Hodgkin’s lymphoma.

OBJECTIVE: To study the clinical value of polysomnography (PSG) and ApneaGraph (AG200) in the diagnosis evaluation of obstructive sleep apnea hypopnea syndrome (OSAHS). METHOD: From January to December in 2012, 67 OSAHS patients diagnosed by PSG were examined by AG200. The apnea hypopnea index (AHI), hypopnea index (HI), apnea index (AI), the lowest oxygen saturation (LSaO2) was were detected and the results were analyzed statistically. RESULT: Significant differences were observed in AI, AHI, LSaO2 between AG200 and PSG (P < 0.05, respectively). No statistically significant difference was found in HI. The differences in HI between AG200 and PSG were not significant (P > 0.05). AHI, HI and LSaO2 was were significantly correlated between AG200 and PSG (r = 0.870, 0.743, 0.374, 0.716, P < 0.01). CONCLUSION AG200 could not replace PSG but could identify the level of upper airway obstruction.
Female ; Humans ; Male ; Polysomnography ; methods ; Sleep Apnea, Obstructive ; diagnosis ; physiopathology

Objective:To investigate the risk factors affecting the prognosis of patients with extremely severe burns.Methods:Totally 46 patients with extremely severe burn in the dust explosion of aluminum powder in Kunshan, Jiangsu province on August 2, 2014 were included in this study. The patients were divided into the survival group and death group according to the prognosis of the patients. The patients' age, sex, burn degree, white blood cell, and lactic acid at admission, lactic acid at 48 h, creatinine, albumin, urine volume, blood calcium, acute physiology and chronic health score system II (APACHE II) and SOFA scores, and 90 d mortality were collected. COX regression analysis was used to analyze the possible relationship between the indicators of the two groups and the prognosis.Results:There were no significant differences in white blood cell at admission, creatinine, albumin, urine volume, SOFA score, and APACHE II score in the survival group compared with those in the death group (all P>0.05) and burn degree, the levels of lactic acid at admission, lactic acid at 48 h and blood calcium were significantly different (all P<0.05). Multivariate regression analysis showed that age, albumin and lactic acid at 48 h were independent predictors of death in patients with severe burn ( P<0.05), and these are independent outcome predictors of patients with severe burns ( P<0.05). Conclusions:Age, albumin level and lactic acid at 48 h are independent risk factors affecting the prognosis of patients with severe burns.

Objective To observe the impact of mild hypothermia (MH)on the reactive oxygen species (ROS)and expression of cacpase-3mRNA and light chain 3 (LC3,a subunit of immunoglobulin)in hippocampus nerve cells of rats after cardiopulmonary resuscitation (CPR).Methods A total of 65 healthy male Sprague Dawley (SD)adult rats were randomly (random number)divided into 2 groups:blank control group (n =5)and CPR group (n =60).Cardiac arrest (CA)was induced in rats of CPR group by asphyxia.The survival rats after CPR were randomly (random number)divided into 2 groups:normothermia CPR group (NT)and hypothermia CPR group (HT).Homeothermia of 37 ℃ was maintained in NT group after restoration of spontaneous circulation (ROSC),and hypothermal intervention to 32 ℃ was carried out in HT group for 4 hours immediately after ROSC.Both NT group and HT group were then randomly divided to 2 subgroups 12 hours and 24 hours after ROSC (NT-12,NT-24,HT-12,HT-24 subgroups).During observation,the neurological deficit (NDS)of rats was scored,then the bilateral hippocampi were obtained from rats'head,and monoplast suspension of fresh hippocampus tissue was made immediately to determine the level of intracellular ROS by flow cytometry.Transmission electron microscope was used to observe the ultrastructure changes of cellular nucleus and mitochondria.Reverse transcription-polymerase chain reaction (RT-PCR)was used to determine the expression of caspase-3mRNA and Western-blotting (WB)was used to determine the level of LC3 in frozen hippocampus tissue.Measured data were analyzed with paired sample T test and One-Way ANOVA.Results Of 60 rats with CA,44 were successfully resuscitated (73%)and 33 survived until the end of the experiment (55%).The NDSs of rats in NT and HT groups were significantly reduced in comparison with BC group (F=8.107,P<0.05),while the NDSs of rats in HT-12 subgroup and HT-24 subgroup were significantly increased in comparison with NDSs of rats in NT-12 subgroup and NT-24 subgroup,respectively (t=9.692,P<0.01;t=14.374,P<0.01 ).The ROS in hippocampus nerve cells of rats in NT group and HT group were significantly increased compared to BC group (F=16.824,P<0.05 ),whereas the ROS in HT-12 and HT-24 subgroups were significantly reduced compared to ROS in NT-12 and NT-24 subgroups,respectively (t =9.836,P<0.01;t =7.499,P<0.01).The expressions of caspase-3 mRNA in hippocampus nerve cells of rats in NT and HT groups were significantly increased compared to BC group (F=24.527,P<0.05),while the expressions of caspase-3 mRNA in rats of HT-12 and HT-24 subgroups were significantly reduced compared to NT-12 and NT-24 subgroups,respectively (t =6.935,P <0.01;t =4.317,P <0.01 ).The level of LC3B-II/I in hippocampus nerve cells of rats in NT and HT groups were significantly increased compared to BC group (F=6.584,P<0.05),while the levels of LC3B-II/I in rats of HT-12 and HT-24 subgroups were significantly reduced compared to NT-12 and NT-24 subgroups,respectively (t=10.836,P<0.001;t=2.653,P=0.02).Ultrastructure damage of nucleus and mitochondria in NT group was more evident compared to BC group,and eumorphism of nucleus and mitochondria were maintained in rats of HT group compared to NT group.Conclusions The mild hypothermia reduced the injury of nerve cells and improved the neurological function of rats survived from cardiac arrest likely by reducing ROS production of nerve cells and inhibition the expression of caspase-3mRNA and lowering the level of LC3 leading to reducing cellular apoptosis and massive autophagy in rats survived from cardiac arrest after CPR.

Objective To investigate the roles of cerebral metabolic rate for oxygen (CMRO2) monitoring in the evaluation of cerebral function after cardiopulmonary resuscitation (CPR) through transcranial doppler (TCD) and SjvO2. Methods In this prospective/retrospective analysis, we included 46 cases admitted to the general intensive care unit (GICU) of the Second Affiliated Hospital of Soochow University from January 2012 to December 2014. Upon admission, TCD and SjvO2 were performed,and the patients' characteristics were recorded. Based on the CPC score upon GICU discharge, the patients were divided into two groups with satisfactory cerebral function and poor cerebral function, respectively. Then the clinical symptoms, cerebral blood flow (CBF), a-vDO2, SjvO2 and CMRO2 were analyzed, followed by investigating their correlation with the prognosis of cerebral function. The measurement data that were normally distributed were presented by mean ± standard deviation. Student's t test was utilized for the inter-group comparison. Correlation analysis was performed. ROC was plotted, followed by evaluating roles of each index in the specificity and sensitivity of nervous prognosis. Results No statistical differences were noted in the gender, age, initial monitoring indicators, ICU duration and initial GCS between the two groups (P>0.05). The CA-ROSC time and APACHE II score in the satisfactory cerebral function group were significantly shorter than those of the poor cerebral function group (P<0.05). The SjvO2 in the satisfactory cerebral function group was significantly lower than that of the poor function group (67.33±10.30 vs. 76.89±13.08, t=-3.579, P<0.05). The Vs and Vd as revealed by TCD in the satisfactory function group were higher than those of the poor function group, together with the CBF. Significant decrease was noted in the PI and RI in the satisfactory function group compared with that of the poor function group (P<0.05). Besides, the CMRO2 and a-vDO2 in the satisfactory function group showed significant increase compared with those of the poor function group (P<0.05). ROC indicated that CMRO2, CBF, a-vDO2 and SjvO2 could be utilized for the evaluation of cerebral function, among which CMRO2 showed the highest accuracy for the cerebral function prognosis. Conclusions CMRO2, CBF, a-vDO2 and SjvO2 were associated with cerebral function prognosis. CMRO2 was the most appropriate parameter to evaluate the oxygen metabolism in brain tissues, which could evaluate the prognosis of cerebral function.