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 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 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 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 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.

Background and purpose: Paclitaxel is believed to be efficient in treating malignant ascites in gastric cancer. However, researches are still needed to get more evidence. The aim of this study was to discuss the efficacy and safety of the treatment of malignant ascites in gastric cancer with paclitaxel. Methods: Six cases of late phase gastric cancer patients were enrolled into the study, paclitaxel 60 mg/m~2 and 1 500-2 000 mL natural solution were administered via intraperitoneal injection, qw, for a of total 2-4 weeks. Efficacy and toxicity were determined according to WHO criteria. Results: Five (5/6) had complete response, and one (1/6) with partial response. The malignant ascites recession time was 0.5-10 months, overall survival time 2-10 months, 4 cases suffered grade Ⅰ-Ⅲabdominal pain, 4 cases grade Ⅰ leucopenia, 3 cases grade Ⅰ hair loss, 1 case grade Ⅰ liver injury (with past history of hepatitis). Conclusion: Paclitaxel is effective and relatively safe to treat malignant ascites of gastric cancer.

Objective To observe the effects of family cognitive training on patients with vascular cognitive impairment but without dementia.Methods Sixty patients with non-dementia type vascular cognitive impairment were divided at random into a group which received family cognitive training (30 cases) and a control group (30 cases).The 2 groups all took routine drugs and exercise.The family cognitive training group received cognitive training additionally.Before treatment and after 1 and 6 months of treatment,all of the patients of both groups were assessed using the mini-mental state examination (MMSE),the Montreal cognitive assessment (MoCA) and the modified Barthel index (MBI).Results After 1 month of treatment there was no significant difference between the 2 groups in any of the assessments.After6 months the scores on each item of the MMSE,MoCA and MBI had improved significantly more in the family cognitive training group than in the control group.Conclusion Family cognitive training is effective in treating non-dementia type vascular cognitive impairment.It can delay disease progression and improve cognitive function and ability in the activities of daily living.

Objective To compare the advantages and disadvantages of SNPscan and Sanger sequence which are both used to detect the common deafness gene mutations in non-syndromic hearing loss (NSHL) in Gansu Province.Methods Peripheral blood samples were obtained from Dongxiang, Yugu and Baoan people with moderately severe to profound sensorineural hearing loss in Gansu province to extract genomic DNA.SNPscan was used to detect the 115 mutations in the common pathogenic GJB2 gene, SLC26A4 gene and mtDNA gene.Results We used the SNPscan to screen the mutation of GJB2 gene,mtDNA A1555G and mtDNA C1494T, SLC26A4 gene of sensorinural deafness patients from Gansu Province.The mutation rate of these three genes was 23.18% (35/151), and the mutation rate of Dongxiang, Yugu, Baoan was 21.31% (26/122), 54.54% (6/11), 16.67% (3/18), respectively.Compared with the Sanger sequence, the results were statistically insignificant(P>0.05).The detection rates in the three genes of SNPscan were 11.26% (17/151), 1.32% (2/151) and 0.66% (1/151),respectively , and the detection rates of Sanger sequence were 9.93% (15/151), 1.32% (2/151) and 0.66% (1/151) ,respectively.The results of the two methods were compared.The results were statistically insignificant (P>0.05).Time, cost and flux, SNPscan method is superior to Sanger sequencing.Conclusion Compared with the Sanger sequence, SNPscan is more lighter in workload, less time-consuming, higher-throughput, lower cost, and can get more meaningful mutations and reduce the false negative rates.