Hearing Loss, Sensorineural ; Humans ; Precision Medicine

DNA, Mitochondrial ; genetics ; Deafness ; chemically induced ; genetics ; Haplotypes ; Humans ; Mutation

Objective To observe the expression changes of matrix metalloproteinase 9(MMP-9),vascular endothelial growth factor(VEGF)in the esophageal squamous cell carcinomas,and to study the chinical significance. Methods The expression of MMP-9 and VEGF in 60 patients with esophageal carcinoma and 20 cases with adjacent normal mucosa were tested with immunohistochemical SP method. Results The positive rate of MMP-9,VEGF in the esophageal squamous cell carcinomas were 70%(42/60)and 80%(48/60),the positive rate of adjacent normal mucosa were 10%(2/20)and 20%(4/20).The positive rates of the two groups were compared,all the differences had statistical significance(P＜0.05); expressions of MMP-9,VEGF in the esophageal squamous cell carcinomas related to invasive depth of carcinoma and lymph node metastasis(P＜0.05).There were positive correlation(r=2.330,P＜0.05). Conclusion The higher expression of MMP-9 and VEGF in the esophageal squamous cell carcinomas played an important role in invasion and metastasis of esophagus squamous cancer.

Cochlear Implantation ; methods ; Cochlear Implants ; Humans ; Minimally Invasive Surgical Procedures

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 Celloidin sections of temporal bone were used to develop a serial stereo anatomical atlas of temporal bone by computer aided three dimensional(3-D) reconstruction and stereology. Methods Fifty sets of serial celloidin sections of temporal bone with reference points were prepared and 3-D morphology of structures in temporal bone was restored systemically by the technique of computer aided 3-D reconstruction. A system of stereo anatomical atlas of temporal bone with stereoscope was established. Results Totally 48 cases of reconstruction were accomplished for bony and membranous labyrinth, ossicles, tendons, facial nerve and its canal, round window membrane and niche, posterior ampullary nerve, endolymphatic sac, cochlear aqueduct, VII and VIIIth cranial nerve. The stereo picture pairs of these structures with the best representation were selected as the stereo anatomical atlas of temporal bone which showed the fine spatial morphology and relationship of the above structures. The stereo anatomical atlas was applied to guide ear surgery and to assist anatomic training of temporal bone. Conclusion The stereo anatomic atlas of temporal bone is an innovative powerful anatomic tool and has tremendous application futures in otology, or even in the whole medical science.

Objective To investigate the relationship between mitochondrial DNA gene mutations and the susceptibility to military noise,and to provide a criterion for screening the individuals susceptible to military noise through molecular biology diagnostic method.Methods An investigation of hearing loss was performed among a total of 1032 servicemen including 406 tankers and 626 artillerymen who have endured military noise in their military duty.A total of 122 blood samples were collected,of which 82 samples were collected from susceptible individuals(susceptible group) and 40 from tolerance individuals(tolerance group).DNA was then extracted from the leukocytes of blood samples.The gene fragments of mitochondrial DNA,which might associate with non-syndromal hearing loss,were amplified by polymerase chain reaction(PCR).The PCR products were analyzed by sequencing and contrasting.The gene mutations which were different from the standard sequences of mitochondrial genome were then compared between the susceptible and tolerance groups.Further auditory analysis was performed on those persons who had the gene mutations of hearing loss.Results The gene sequencing revealed there were definite differences in mitochondrial DNA between the susceptible and tolerance groups,and statistically significant difference was found in mitochondrial DNA COII gene T7684C and G7853A mutations between the two groups.Mitochondrial DNA gene mutations were found in the present study,such as A827G,T961insC(heterogeneity),T1005C,T1095C and G7444A,which were reported to be related to deafness in literature.Most of these mutations were detected from the samples of susceptible group,and the others from tolerance group.Conclusion The mitochondrial DNA COII gene T7684C and G7853A mutations might exist in those persons who are susceptible to military noise.

Objective: To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary hearing loss and genetic susceptibility to aminoglycoside ototoxicity. Early identification of pre-lingual hearing loss is very important for patient's language development, academic achievement, and social skill. Two common mutations, the 235delC in GJB2 gene and the mutation A1555G in mitochondrial DNA, are included in the newly developed screening panel for Chinese population. Methods: A molecular genetic assay, based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques, was developed to detect both mutations simultaneously. Results: This assay was able to detect both mutations from patient's samples, and pooled DNA tests, as well as suitable to detect mutation from the DNA extracted from dried blood spot and buccal swab. Conclusion: This assay could be a useful tool for newborn screening and carrier screening for the hereditary hearing loss for the Chinese population.

Congenital Abnormalities ; diagnosis ; genetics ; prevention & control ; Deafness ; diagnosis ; genetics ; prevention & control ; Genetic Testing ; Humans

Objective To analyze the genetic diversity of Psammosilene tunicoides,an endangered and endemic medicinal plant,in southwest China.Methods The genetic diversity of seven representational populations of P.tunicoides including 137 individuals had been investigated by amplified fragment length polymorphisms(AFLP)maker technique.Results The genetic diversity had been revealed as follow:the Nei's genetic diversity index(He),Shannon's information index(I),percentage of polymorphic loci(PPB)were 0.243 4?0.179 1,0.373 5?0.248 5,and 82.30%,respectively at the species level;and 0.091 8?0.161 0,0.140 2?0.236 2,and 30.48%,respectively at population level.The genetic differentiation index(Gst)was 0.624 6 and genetic differentiation coefficient by Shannon's diversity(Ist)was 0.624 6.The result of dendrogram of seven populations indicated that Lijiang and Gejiu of Yunnan populations shared the maximum genetic identity,though they distributed in a relatively great geographical distance;Kunming population of Yunnan had the greater genetic distance from other populations.Nine characteristic fingerprint bands that can distinguish the different populations had been acquired.Conclusion The genetic diversity of P.tunicoides is relatively higher at the species levels,while lower within population levels,and a significant degree of genetic differentiation occurrs among the populations.There is little relativity between the relationship of populations and geographical distance.The combination of characteristic fingerprint bands between intraspecies and populations provide important basis data for germplasm resources diagnostics and plant breeding by AFLP maker technique.