Next-generation sequencing (NGS) technologies have improved as well as the costs have gradually decreased in the detections of genetic diseases. This article describes the principle, platform, and data analysis of NGS and the application of NGS technologies to the molecular diagnosis of hereditary hearing loss (HL). The use of NGS technologies makes the discovery of HL genes more feasible than ever. And the data obtained by NGS used in genetic counseling for clinical practice may assist in defining genetic profiles of HL individuals and expedite the pace of personalized medical care.
Hearing Loss, Sensorineural ; diagnosis ; genetics ; High-Throughput Nucleotide Sequencing ; Humans

Objective To evaluate the effect of abdominal fat ratio (AFR,abdominal fat volume to total abdominal volume)at the umbilical level on hepatic CT enhancement in humans.Methods We analyzed data in 87 patients (40 women and 47 men)by Pearson correlation and linear regression analysis to assess the association of patient age and AFR with adjusted maximal hepatic enhancement (aMHE,maximal hepatic enhancement divided by the dose of iodine divided by body weight)by sex.Results aMHE was positively correlated with AFR for both men and women (r=0.48 and 0.46,respectively,both P <0.01)but not patient age.Conclusion Pa-tients with more abdominal fat seem to require relatively less amount of contrast media to get the CT enhanced degree of liver similar to those with less fat.

Objective To investigate the molecular epidemiology of GJB2 mutations as a causative effect of prelingual deafness in northwestern China. Methods The medical history of 274 deaf-mute students was collected. Blood samples were obtained from them with informed consent. GJB2 gene sequences of genomic DNAs were amplified by polymerase chain reaction (PCR) with a pair of primers, and bidirectional sequencing of PCR products was performed and analyzed with DNAStar Software. Results A total number of 274 deaf-mute students were diagnosed as non-syndromic hearing impairment, and profound prelingual deafness. Two kinds of polymorphism, seven pathologic mutations and one novel mutation were revealed in the GJB2 screenings of them, and 79G→A and 341A→G were polymorphism with high frequency. Conclusion GJB2 gene mutation is the causative gene in the prelingual deafness with a high incidence of 10.95% in northwestern China. Based on the investigation, it is clear that screening of GJB2 gene mutation should play a significant role in early diagnosis of deaf-mutism in this region.

OBJECTIVE: To study the hospital infections caused by ESBLs-producing Escherichia coli and Kalispell.METHODS: Bacterial drug resistance of 460 stains of ESBLs-producing Escherichia coli and Kalispell pneumonia and the application of antibiotics in our hospital in 2005 were analyzed retrospectively.RESULTS: The infections caused by ESBLs-producing Escherichia coli and Kalispell pneumonia were more often found in department of respiratory diseases,ICU and neurosurgery patients,which were treated empirically predominantly with levofloxacin,followed by cefoperazone/sulbactam,but were treated mostly by carbapenems,levofloxacin,cefoperazone/sulbactam after the drug susceptibility test results were obtained.The drug combination was characterized predominantly by combined use of two kinds,at most 6 kinds in combination.CONCLUSION: In most of the cases the medication for infections caused by ESBLs-producing Escherichia coli and Kalispell pneumonia is effective and reasonable.However,in a few cases the application of antibiotics is irrational and nonstandard,which should be given fully attention.

Serum Cardiac troponin Ⅰ (cTn Ⅰ) and lactic acid were measured in 128 neonatal patients with hypoxic-ischemic encephalopathy and 38 healthy neonates (control group). Serum cTn Ⅰ and lactic acid levels were higher in neonates with hypoxic-ischemic encephalopathy than those in healthy neonates (P < 0. 05 ); and the differences of these values were also statistically significant between the serious patients and the mild patients (P<0.05). Serum cTn Ⅰ and lactic acid are two sensitive markers for degree of myocardial injury and hypoxia in neonatal patients with hypoxic-ischemic encephalopathy.

Objective This study aims to investigate the mutation spectrum and frequency of GJB2 , mtDNA12SrRNA,and SLC26A4 genes in Hui people,Tibetan,Tu nationality,and Mongolian patients with non-syndromic hearing loss in Qinghai province.Methods Peripheral blood samples were obtained from a total of 211 minority patients with nonsyndromic hearing loss in Qinghai province to extract genomic DNA.Three genes of GJB2,mitochondrialDNA12SrRNA,and SLC26A4 were screened for mutations in our study cohort using SNPscan technology.Results Among these 211 patients,5 Tu patients and 1 Mongolian patient were found to carry the ho-moplasmic mtDNAA1555G mutation.The GJB2 mutations detection rates were 11.38%,4.55%,5.88%,and 10%in Hui people,Tibetan,Tu nationality,and Mongolian patients,respectively.No statistically significant differences in the GJB2 mutations detection rates were found among all four ethnicities (P>0.05).c.235delC was the most prevalent mutation in both Tu patients and Mongolian patients.The allele frequency was 2.94% and 5%,respec-tively.While for Hui patients,c.299 300delAT was the most prevalent mutation with the allele frequency of 4.47%.The mutations detection rates of SLC26A4 were 6.5%,4.55%and 2.94%in Hui people,Tibetan,and Tu nationality patients,respectively.No statistically significant differences in the SLC26A4 mutations detection rates were found among all three ethnicities (P>0.05).c.235delC was the most prevalent mutation in Hui patients,the allele frequency was 2.44%.While for Tibetan patients,c.1226G>A was the most prevalent mutation with allele frequency of 2.27%.Conclusion A total of 10.9% of deaf patients have inherited hearing impairment caused by GJB2,SLC26A4,and mtDNAA1555G mutations.The mutation spectrum of GJB2 and SLC26A4 genes has the eth-nic specificity in nonsyndromic hearing loss patients of minority ethnicities in Qinghai province.

Objective To explore the clinicopathological characteristics in young women with breast cancer.Methods The clinicopathological data of 201 cases of breast cancer with age below 35 years from Apr.1997 to Apr.2010 in Anyang Tumor Hospital were retrospectively analyzed and compared with those of 251 cases of breast cancer patients selected randomly with age more than 60 years during the same period.All these cases had undergone surgical treatment and been confirmed by pathologist.Results In the young group,the percentage of patients with the course of disease less than six months was higher than that of the old-aged group [82.09 ％ (165/201),72.11％ (181/251)] (x2 =6.19,P ＜ 0.05).The incidence of the tumor size ≤ 2 cm in the young group was less than that of the old-aged group [19.90 ％ (40/201),30.28 ％ (76/ 251)] (x2 =6.302,P ＜ 0.05).The incidence rate of metastasis of lymph nodes in the young group was less than that of the old-aged group [63.68 ％ (128/201),54.19 ％ (136/251)] (x2 =4.145,P ＜ 0.05).The incidence rate of stage 0～ Ⅰ in the young group was more than that of the old-aged group [11.94 ％ (24/201),17.53 ％ (44/251)] (x2 =2.729,P ＞ 0.05).Conclusion The tumor size in the young group is larger than that in the old-aged group,pTNM classification in the young group is later than that in the latter group and the incidence rate of metastasis of lymph nodes in the young group is higher than that in the latter group.In young patients with breast cancer the percentage of tumors with advanced tumor stage and poor prognosis are more than that in elder breast cancer patients.In addition,these young patients have lower awareness to mammary adenocarcinoma.Young ladies should examine breast cancer by themselves and go to hospital for regular inspections in order to discovere,diagnose and treat cancer earlier.

Objective To assess right ventricular (RV) regional and global volume and systolic function in patients with right coronary artery disease by real time three-dimensional echocardiography(RT-3DE).Methods RT-3DE images were acquired in 20 normal controls (Group A),30 patients with right coronary artery stenosis(Group B) and 10 patients with RV myocardial infarction(Group C).Volumetric RT-3DE images were analyzed by use of TomTec software,which provided regional (inflow,body and outflow) and global end diastolic volume(EDV),end systolic volume(ESV),stroke volume(SV) and ejection fraction(EF).RT-3DE quantitative data were analyzed to test repeatability.Results Compared with group A and group B,EDV and ESV of body and global were larger in group C;ESV of inflow and outflow were larger (P ＜0.05).EDV of group C was larger than group B(P ＜0.05).Compared with group A and group B,the EF of inflow,outflow and global in group C were lower(P ＜0.05).The EF of body in group C were lower than group B(P ＜0.05).There was no significant difference in regional and global volume and EF between group A and group B(P ＞0.05).The intra-observer and inter-observer's variability was low and consistency was high.Conclusions In patients with RV myocardial infarction,RV regional and global volumes were enlarged and systolic function was impaired.Evaluating right ventricular regional and global volume and function in patients with right coronary artery disease by RT-3DE has high repeatability.

ObjectiveTo investigate bronchial provocation test (BPT) and small airway function in children with cough variant asthma (CVA).MethodsA total of 353 children with chronic cough whose mean age was (7.45±2.58) years from three hospitals of Pudong district were enrolled during May 2012 and February 2014. Conventional pulmonary function tests, BPT and questionnaire survey were performed and the difference in pulmonary function was analyzed between children with positive BPT and negative BPT.ResultsIn 353 children with chronic cough, there were 200 children (56.66%) diagnosed as CVA with posi-tive BPT. Compared with BPT negative group, the percentages of nighttime cough and severe dry cough in BPT positive group were signiifcantly higher while the percentages of morning/daytime cough and wet cough were signiifcantly lower (P<0.01). Fur-thermore, the rates of history of atopic dermatitis and rhinitis in BPT positive group were signiifcantly higher than those in BPT negative group (P<0.01). Forced expiratory lfow at 75% relfecting the small airway function was signiifcantly lower in BPT posi-tive group than that in BPT negative group (P=0.032).ConclusionsBronchial hyperresponsiveness and decreased small airway function are the important pathological features of CVA. BPT and spirometry have clinical signiifcances in the CVA diagnosis and the analysis of cause of chronic cough.

The genus Xestospongia is one of the most widespread genera of sponges, containing abundant secondary metatolites with novel structures and potent bioactivities. The main structure types of secondary metatolites found in this genus are alkaloids, quinines, terpens, steroids, lipids, polyketones, etc. These metatolites exhibit a variety of bioactivities, such as cytotoxic, antibacterial and antiviral activities. This paper reviews the progress in the chemistry and pharmacological activities of the second metabolities from sponges of Xestospongia, especially for recent five years, with the aim for further research.