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 observe the effect of ATF6 on the apoptosis and proliferation of podocytes induced by palmitic acid (PA). Methods Podocytes were stimulated with different doses of PA for 24 h. The expression of cleaved-caspase3 was detected by Western blotting. The podocyte apoptosis was analyzed by flow cytometry (FCM), and the expression of ATF6 was tested by Western blotting and immunofluorescence staining. After the transfection of adenovirus siRNA against ATF6, the proliferation, the cell cycle and apoptosis of potocytes stimulated with PA were tested by MTT or FCM. Results The levels of cleaved - caspase3 and ATF6 of podocytes stimulated with PA were significantly increased by a dose-dependent manner compared with the control group (P<0.05). The apoptosis of podocytes stimulated with PA was increased (P<0.05). Compared with the podocytes stimulated with PA, the apoptosis of podocytes transfected by adenovirus siRNA against ATF6 with PA stimulation was significantly reduced (P<0.05). The proliferation of podocytes transfected by adenovirus siRNA against ATF6 and stimulated with PA, however, was obviously increased compared with the podocytes stimulated with PA (P<0.05). Conclusion ATF6 mediated the apoptosis of podocytes induced by palmitate acid.

DTC is a common type of endocrine carcinoma.There are various imaging modalities for the diagnosis of DTC,such as ultrasound,contrast enhanced CT,MRI,131I whole body scintigraphy.18F-FDG PET/CT is widely used in many kinds of malignant tumors.This review concentrates on the clinical application of 18F-FDG PET/CT in DTC.

Objective:To investigate the role of vitamin D-induced autophagy in macrophages against Mycobacterium tuberculosis(Mtb).Methods:Induce U937 cells to differentiate into macrophages with phagocytic capacity by phorbol 12-myristate 13-acetate(PMA).The cells were randomly divided into negative control group,vitamin D group,autophagy inhibitor(3-MA)+vitamin D group,positive control(rapamycin)group.Infect all groups with Mtb for 6 hours.In the 4th day after infection,the mRNA expressions of autophagy-related genes ATG5, Beclin-1 and LL-37, LC3B were determined by semi-quantitative RT-PCR.LC3B-Ⅱ+and/or Mycobacterium tuberculosis antigen 85A+( Ag85A+)-cells were counted by flow cytometry.Results:Compared with the control groups, the mRNA expressions of ATG5,Beclin-1,LL-37 and LC3B were enhanced(P<0.01),the numbers of LC3B-Ⅱ+-cells increased,the numbers of Ag85A+-cells decreased, and the numbers of LC3B-Ⅱ+-Ag85A--cells increased ( vitamin D group 38.0% vs negative control group1.08%).Compared with the vitamin D group,the mRNA expressions of ATG5,Beclin-1 and LC3B were suppressed in the autophagy inhibitor(3-MA)+Vitamin D group,the mRNA expressions of LL-37 were reduced,and 3-MA inhibited the expression of LC3B-Ⅱ in cells with inhibition of LC3B-Ⅱ+-Ag85A--cells increase as well.Conclusion: Vitamin D can induce macrophage autophagy and further contribute to scavenging Mycobacterium tuberculosis.

Objective:To investigate whether enamel matrix proteins (EMPs) has osteoinductive property. Methods: EMPs and propylene glycol alginate (PGA) in the size of 2 mm3 were placed into calf muscle of 8 SD rats on experiment side. PGA was placed on control side. The rats were sacrificed four weeks after operation. The calf samples were examined by histological observation.Result:Bone-like and/or cartilage-like tissues was not observed in all the operated calf muscles. Conclusion:EMPs are not osteoinductive.

Objective To explore the efficient method in detection of DMD/BMD patients.Methods 18 deletion-prone exon fragments of DMD gene were amplified via molecular cloning. They were used as probes and were spotted on the slides treated with APES and poly-lysine together by manual operation to make microarray. In addition, fragments of ?-actin were used as positive contrast and those of pUC 19/EcoR I were used as negative. 30 DMD/BMD patients were detected for deletion in DMD gene with the microarray and 5 healthy people were done as normal control. Parts of the results were compared with PCR method.Results Different exon fragment deletion of DMD/BMD gene was detected in 21 patients by DNA microarray, and 10 of them were confirmed by PCR analysis.Conclusion DNA microarray assay is a convenient ,accurate and sensitive method in diagnosis of DMD/BMD patient.

OBJECTIVE To evaluate the value of HPV-DNA test in the screening of cerical lesions.METHODS Patients with cervical lesions were detected by HPV-DNA test Papanicolaou(Pap) smear and pathological inspection,and the pathological results were regarded as gold standard.From the 178 positive cases,we compared the sensitivity of HPV-DNA test and Pap smear,and the HPV-DNA detection rate from patients with different histocytological classification.RESULTS All of 178 cases were positive in pathological inspection,the HPV-DNA test sensitivity was 85.4%,whereas Pap smear was 50.6%,the difference between HPV-DNA test and Pap smear was significant(P

Objective To investigate the clinical value of olfactory functional magnetic resonance imaging in early diagnosis of Alzheimer's disease (AD).Methods 43 patients with mild cognitive impairment were selected,in the same period,49 cases of patients with AD were selected as the AD patients group,and 53 normal populations were selected as the control group.The neuropsychological of all cases were assessed by using MMSE scale,MoCA scale and CDR Scale.Siemens 3.0T MRI machines were used according to event -related design approach for olfactory cor-tex conducted fMRI scans.The matlab7.0 and SPM8 data preprocessing tools were used to image analysis.The prima-ry olfactory cortex volumes and activation voxels numbers of the three groups were compared.The correlations of acti-vation voxels numbers and primary olfactory cortex volumes and neuropsychological scores were analyzed.Results The primary olfactory cortex volumes of the control group,patients with mild cognitive impairment and AD patients were (3 846 ±517)mm3 ,(2 863 ±367)mm3 and (2 214 ±283)mm3 ,respectively,pairwise comparison,the control group >mild cognitive impairment >AD patients,the differences were statistically significant (compared with the con-trol group,t =16.835 and 34.716,compared with mild cognitive impairment group,t =19.753,P <0.05).The acti-vation voxels numbers of the control group,patients with mild cognitive impairment and AD patients were (193 ±84), (104 ±52)and (51 ±27),pairwise comparison,the control group >mild cognitive impairment >AD patients,the differences were statistically significant (compared with the control group,t =47.916 and 72.954,compared with mild cognitive impairment group,t =37.382,P <0.05).Partial correlation analysis showed that the activation voxels num-bers of the three groups were positively correlated with primary olfactory cortex volume,MMSE score and MOCA score (r =0.397,0.462 and 0.494,all P <0.05).Conclusion Olfactory fMRI in patients with AD might reflect the changes in the entorhinal cortex caused by pathological changes.It could provide clues and information for the early diagnosis of AD.

Objective To analyze the image characteristics and clinical value of 18F-FDG PET/CT in patients with extranodal nasal type natural killer/T-cell lymphoma (ENKTL).Methods From January 2012 to March 2016,20 ENKTL patients (12 males,8 females;median age 53 years) who underwent whole-body 18F-FDG PET/CT were enrolled in this retrospective study.Eleven patients were newly diagnosed,and 9 were previously treated.Clinical data were collected for histopathology and bone marrow biopsy,laboratory results,PET/CT and radiological findings such as CT or MRI.The final diagnosis was based on histopathology and immunohistochemistry.Mann-Whitney u test was used to compare the SUVmax of newly diagnosed patients and patients with recurrence or disease progression after therapy.Spearman correlation analysis was used to explore the relation between diameter of tumor-invaded lymph nodes and SUVmax.Results ENKTL could be found in all parts of the body,but more frequently in the nasal cavity,nasopharynx and skin.All lesions showed high uptake of FDG on PET/CT.The SUVmax of newly diagnosed patients was significantly higher than that of patients (n=7) with recurrence or disease progression:6.5(4.3,10.4) vs 5.4(3.4,8.9);u=6 853.500,z=-2.039,P＜0.05).The diameter of tumor-invaded lymph nodes showed weakly positive correlation with SUVmax(rs =0.290,P＜0.01),suggesting that invasion of ENKTL might not be accurately evaluated by the size of lymph nodes.The staging by PET/CT was concordant with clinical final staging in 11 newly diagnosed patients,while the staging by CT or MRI was only correct in 6 patients.Conclusions PET/CT is superior to conventional imaging modalities in diagnosis and staging for patients with ENKTL.Since some lesions might be found in the limbs,limbs should be included in the scan field.

Objective To explore the effect of the simvastatin administration on the expression of connective tissue growth factor （CTGF） in fihrotic lungs of rats. Methods The cats were treated with single intratracheal instillation of bleomycin （BLM） or instillation of the same volume of normal saline （NS） as a control. The administration of simvastatin（20 mg/kg）began once a day immediately or 7 days later after intratracheal BLM instillation respectively with the same volume of NS was given as a vehicle control. The rats were killed on day 7,14 and 28 respectively. Pathological alteration of lung tissue was observed hy HE staining and Masson staining. Hydroxyproline（HYP）content in lung tissue was used to determine the severity of pulmonary fibrosis. The expression of CTGF in lung tissue was exanfined by immunohistochem- istry staining and photodeusitometry. Results Histopathological changes of pulmonary fibrosis emerged gradually after the instillation of BLM. The expression level of CTGF was increased in lungs of rats after intratracheal instillation of BLM, compared with the control. The administration of simvastatin immediately or 7 days after intratracheal instillation of BLM, attenuated the histopathological changes of bleomycin- induced puhnonary fibrosis and prevented the increased expression of CTGF in lung tissue on day 28. Conclusion The adntinistration of simvastatin, immediately or 7 days after intratracheal BLM instillation, prevented the up-regulation of CTGF in fibrotic lungs of rats, which ntight be one of the mechanisms of the anti-fihrosis of simvastatin in lungs.