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 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.

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.

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 explore the feasibility and safety of early ambulation in patients with acute deep ve-nous thrombosis. Methods The literatures about early ambulation for acute venous thrombosis were collected and the quality of the literature was evaluated by two investigators independently. Results Thirteen published studies were recruited for systematic review,including 10 RCTs and 3 CCTs. The meta-analysis showed that compared with bed rest,early ambulation did not increase the incidence of secondary pulmonary embolism in patients with acute DVT[early activity:22/1408;bed rest:34/1417;RR=0.62,95%CI(0.37,1.03),and the incidence of DVT progression [early activity:48/1523;bed rest:45/1525;RR=0.85,95%CI(0.58,1.24)]. There were no statistically significant differ-ences in mortality,swelling,and pain relief in acute DVT patients. Conclusion Early ambulation did not increase the incidence of thrombus progression and secondary pulmonary embolism in patients with acute DVT compared with bed rest. Besides,early ambulation cannot relieve symptoms of swelling and pain in DVT patients. However,it can relieve the acute pain of DVT patients with moderate to severe pain.

Objective To investigate the diagnostic value of UL-16 binding protein 2 (ULBP-2,macrophage inhibitory cytokine-1 (MIC-1) for pancreatic cancer.Methods The serum samples of 152pancreatic cancer patients,20 precursors of pancreatic cancer,91 chronic pancreatitis patients and 96 age/sexmatched healthy persons were collected.The serum ULBP-2 and MIC-1 levels were determined by using the ELISA kit and were compared with level of CA19-9.A receiver operating characteristic (ROC) curve was constructed to evaluate their diagnostic values for pancreatic cancer.Results The serum levels of ULBP-2 in patients with pancreatic cancer,precursors of pancreatic cancer,chronic pancreatitis and healthy persons were (219.9 ± 182.5),(62.6 ± 11.4),(68.4 ± 36.8),(76.5 ± 40.9) μg/L,the corresponding values of MIC 1 were (3521.3±3903.4),(973.6±589.0),(959.6±879.0),(427.6±317.0) μg/L,while the corresponding values of CA19-9 were (1448.8 ± 3707.0),(12.0 ± 9.3),(38.2 ± 139.0),(7.7 ± 5.0)kU/L.The parameters in pancreatic cancer patients were significantly higher than those in control group (x2 =40.628,71.662,45.505,15.827,36.433,63.494,26.264,73.427,49.088,P ＜ 0.01).The area under ROC curves(AUC) of ULBP-2,MIC-1,CA19-9 were 0.909,0.864,0.818,and ULBP-2 was superior to CA19-9 and MIC-1,however the combined measurement of three markers produced the highest diagnostic yield(AUC =0.982).For early stage pancreatic diseases (precursors to pancreatic cancer and IA stage pancreatic cancer),AUC of ULBP-2,MIC-1,CA19-9 were 0.506,0.837,0.684,MIC-1 was superior to ULBP-2 and CA19-9,however the combined measurement of MIC-1 and CA19-9 produced the highest diagnostic yield(AUC =0.897).Conclusions Serum ULBP-2,MIC-1 levels are significantly elevated in pancreatic cancer patients.The combined measurement of ULBP-2,MIC-1 and CA 19-9 can increase the diagnostic yield for pancreatic cancer.

Objective To study the clinical features and spirometry of children with chronic cough and positive findings by bronchial provocation test.Methods Four hundred and fifty children with chronic cough from 3 hospitals of Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong Medical University School of Medicine,Gong Li Hospital of Pudong New Area,Pudong Hospital,were enrolled in this study from December 2012 to December 2014,and among them,373 cases completed the questionnaires,spirometry and bronchial provocation test.The differences in clinical features and spirometry between the bronchial provocation test positive group and negative group were compared.And the further evaluation of their clinical value was performed.Results Two hundred and thirty-six cases of children with bronchial provocation tests positive showed much higher rate of dry [72.03％ (170/236 cases)] and night cough[58.90％ (139/236 cases)] than those in the negative group[27.00％ (37/137 cases),22.63％ (31/137cases)],and the differences were significant (x2 =71.154,45.973,all P ＜0.01).Children in positive group also had higher morbidity of eczema[52.12％ (123/236 cases)],allergic conjunctivitis [24.15％ (57/236 cases)] and inhaled allergy history[40.25％ (95/236 cases)] than those in negative group[32.85％ (45/137 cases),10.95％ (15/137cases),18.98％ (26/137 cases)],and there existed significant differences (x2 =13.006,9.701,17.904,all P ＜0.01).And they also had higher asthma heredity [18.22％ (43/236 cases)] than that in negative group [9.49％(13/137 cases)],and the difference was significant (x2 =5.179,P =0.023);with worse small airway function [50.85％ (120/137 cases) vs 36.50％ (50/137 cases)] (x2 =7.197,P =0.007).For further study,the sensitivity and specificity for dry cough were both high(72.03％ and 72.99％).For specificity,family history was the most highest one (90.51％),and night cough and allergic conjunctivitis were also high.Conclusions Pulmonary function tests to reflect small airway function abnormalities,combined with a family history of asthma and chronic cough in children related to eczema,allergic conjunctivitis,and inhalation allergy history clinical features,can better predict airway hyperresponsiveness.