To investigate a huge family with autosomal dominant hereditary non syndromic hearing loss. In this family, sixty six of 113 family members and 8 spouses have been conducted physical examination, pure tone audiometry, immittance testing and auditory brainstem response testing (ABR). The results indicated that 37 of 66 tested family members have sensorineural hearing loss in various degrees. No associated visible abnormalities in other systems were found in this family. The mode of inheritance of this family should be autosomal dominant according to its pedigree. The full collections of both blood samples and physiological hearing assessments of this family have provided the solid basis for future study on identifying disease causing gene.

Objective To identify the possible mutations other than A1555G in mitochondrial 12S and 16S rRNA genes that responsible for aminoglycoside-induced deafness, and to provide the basis for genetic diagnosis for this disease. Methods A total of twenty-seven blood samples were obtained from five families with aminoglycoside-induced deafness for screening the A1555G mutation and other possible mutations by PCR- Alw26 I digestion and sequence analysis. Results All samples examined in four families (A, C, D and E) carried the same homoplasmic A1555G mutation, but no A1555G mutation was found in family B. Sequencing of the DNA samples from this family displayed a rare insertion of "AA" at nucleotide 2227 in 16S rRNA gene. Conclusions Our findings suggested that the 1555 G mutation was not the only genetic defect associated with aminoglycoside-induced deafness since we did not find the A1555G mutation in one family, in which the typical maternal inheritance pattern of the aminoglycoside-induced deafness was seen. It is not enough to identify prospectively patients who are likely to be hypersensitive to aminoglycoside ototoxicity by screening A1555G mutation only. Other possible mutations in mitochondrial DNA that associated with aminoglycoside -induced deafness should be tested also.

Aiming at the problem of high-quality image reconstruction from projection data at sparse angular views, we proposed an improved fast iterative reconstruction algorithm based on the minimization of selective image total variation (TV). The new reconstruction scheme consists of two components. Firstly, the algebraic reconstruction technique (ART) algorithm was adopted to reconstruct image that met the identity and non-negativity of projection data, and then, secondly, the selective TV minimization was used to modify the above image. Two phases were alternated until it met the convergence criteria. In order to further speed up the convergence of the algorithm, we applied a fast convergence technology in the iterative process. Experiments on simulated Shepp-Logan phantom were carried out. The results demonstrated that the new method not only improved image reconstruction quality and protected the edge of the image characteristics, but also improved the convergence speed of the iterative reconstruction significantly.
Algorithms ; Image Processing, Computer-Assisted ; Phantoms, Imaging ; Tomography, X-Ray Computed

The involvement of astrocytes and correlation between neuronal injury and astrocyte response were studied. Blockingmiddle cerebral artery and reperfusing o. 5～48 h, H-E staining, immunoccytochemistry single-and double-labeling, dotble label-ing combined with TUNEL and GFAP immunocytochemistry were used to investigate neuronal injury and astrocyte response.The is chemic area peaked at 24 h of reperfusion. The neurons presented irreversible degeneration at 6 h of reperfusion. At24 h,ischemic area in the preoptic area developed into infarcted area; astrocytes exhibited differential morphological features: reactive,malnourished and degenerative changes. At 48 h of reperfusion, the number of astrocytes began to go up. The astrocytes in is-chemic area didn't proliferate within 48 h. By contrast, a few astrocytes underwent apoptosis. In conclusion, these data indicatethat the reaction of astrocytes is closely connected with the extent of neuronal injuries. The reactive astrocytes imply that astro-cytes positively respond to the neuronal injuries, which might play a role in promoting neuronal survival.

Objective To establish a method of sperm DNA extraction in mixed stain by using DNase-Ⅰ purificationcombined with alkaline lysis method in forensic science.Methods 79 mixed stain samples of criminal cases were collected.Sperm DNA was extracted using the purification of DNase-Ⅰ binding alkaline lysis method.16 STR loci were genotyped with fluorescent multiplex amplification system.The typing results were compared with that of extracted using two-step differential extraction procedure.Results Of all 79 mixed stain samples,64 samples were genotyped successfully by using DNase-Ⅰ purification combined with alkaline lysis method while 57 samples were genotyped successfully with two-step differential extraction procedure.There was significant difference between two methods(P=0.039).The purification of DNase-Ⅰ binding alkaline lysis method had a higher success rate and lower cost than that of two-step differential extraction procedure.Conclusion Purification of DNase-Ⅰ binding alkaline lysis method can increase the typing success rate of the mixed stain samples.The method is simple,rapid and easy to be automated,and suitable for forensic identification test.

Objective To determine the plasma concentration of cytarabine(Ara-C) in children with leukemia and obtain dynamics parameters, and investigate the relationship between the parameters and clinical effect in order to provide the basis for optimization of Ara-C application. Methods Using highperformance liquid chromatogram (HPLC) to determine the plasma concentration of Ara-C, its metabolite Ara-U and infusion rate in 37 children with acute leukemia, their therapeutic reaction, remission, treatment-related infection, side-effect and long-term treatment effect were analyzed in statistic. Results Ara-C by 1～2 g/m2 intravenous drop infusion for 2 hours, the peak plasma concentration time was 2 h and peak concentration were (14.37-84.44)μmol/L, and the median was (41.42±22.80)μmol/L. The median infusion rate was 869.57at 30 minutes after Ara-C drip completion, its average level was (253.40±81.49) μmol/L, over six-times than Ara-C peak concentration. The median continuous complete remission time in 37 children was 29.8 months (5.0～53.1 months), 3y-DFS was (90.63±5.15)%. The therapy-related infection rate was 56.8 %(21/37),including three children (8.1 %) suffered from severe infection, but there was no therapy-related death and no children were off the protocol due to poor tolerance. Conclusion As post-remission treatment, high-dose Ara-C would not cause cumulation in vivo in children with acute leukemia and side-effect were slight. Ara-C could improve the long-term continuous complete remission rate and clinical cure rate for children with leukemia. Therefore, it was worth to apply in clinical.

OBJECTIVE: To investigate the location, staging, clinical symptoms, imaging features, and surgical treatment of the congenital cholesteatoma of middle ear (CCME). METHOD: This was a retrospective review of 20 CCME cases. RESULT: Of 20 cases with CCME, 2 cases were classified as Postic stage I, 0 as stage II, 13 as stage III, 5 as stage IV. Conductive hearing loss was the most common clinical symptom. The mean preoperative PTA was 54.1 dB, and the mean ABG was 41.7 dB. One case underwent a modified mastoidectomy and a second-stage ossicular reconstruction; 2 cases experienced a radical mastoidectomy without ossicular reconsturction for extensive cholesteatoma; 5 cases underwent modified mastoidectomy and a one-stage tympanoplasty, with one case diagnosed as congenital malformation of ossicular chain (stapes hypoplasia); other 12 cases underwent a one-stage tympanoplasty. The cholesteatoma localized to the posterior-epitympanum or mesotympanum in all patients, mainly located in the incudostapedial joint. The mean postoperative PTA from 16 cases was 35.3 dB, and A-B gap was 20.2 dB. All patients were followed-up for at least 1 year after operation and recurrence was found in 2 cases. Three cases were accompanied with congenital malformation of ossicular chain. CONCLUSION CCME is a rare entity and diagnosis is usually delayed in clinical practice due to the silent nature of disease in its early stage. The prognosis of CCME mainly depended on the stage of the lesions.
Adolescent ; Adult ; Child ; Child, Preschool ; Cholesteatoma ; classification ; congenital ; pathology ; surgery ; Cholesteatoma, Middle Ear ; classification ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Male ; Retrospective Studies ; Young Adult

OBJECTIVE: Using simultaneous multi-gene mutation screening to survey the molecular epidemiological basis of 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region, we can identify the causes of their deafness,and verify the new method for simultaneous multi-gene mutation screening. METHOD: Three hundred and fifty-five patients with severe non-syndromic deafness from Inner Mongolia Autonomous regior were included in the study. The SNPscan technology was used for screening the 115 spots mutations in three common deafness-related genes(GJB2, SLC26A4, MT-12S rRNA) of patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region. RESULT: In 355 patients, there were 89 cases of deafness caused by mutatior (25.07%). 53 patients with the GJB2 mutations were found(14.93%), including 24 cases of homozygous mutations (6.76%), 29 patients (8.17%) of compound heterozygous mutations, and 3 cases (0.85%) of single heterozygous mutations. 33 patients with the SLC26A4 mutations were found (9.30%), including 15 cases of homozygous mutations (4.23%),18 patients (5.07%) of compound heterozygous mutations, and 5 cases (1.41%) of single heterozygous mutations. mtDNA12S rRNA A1555G mutation was found in 6 patients (1.69%). mtDNA12S rRNA 1494C>T mutation was not found. CONCLUSION SNPscan technology allows accurate, rapid and cost-effective diagnostic screening in patients with hearing loss for etiology investigation. The SNPscan technology can serve as a good diagnostic tool for large-scale genetic testing for hereditary deafness and should be widely applied.
China ; Connexins ; DNA Mutational Analysis ; methods ; Deafness ; genetics ; Genetic Testing ; methods ; Heterozygote ; Homozygote ; Humans ; Mutation ; Polymorphism, Single Nucleotide ; RNA, Ribosomal

Random amplified microsatellite polymorphism (RAMP) markers were used to access the genetic diversity among 112 samples of nine populations of Dendrobium officinale Kimura et Migo. Using 16 informative primers, 123 bands were amplified and 86 (69.92%) were polymorphic. The polymorphic bands from three to eight could be detected for each RAMP primer, with a mean of 5, indicating abundant genetic diversity among populations. Genetic similarity coefficients ranged from 0.250 to 0.813. UPGMA dendrogram illustrated 9 populations clustered into 3 groups, and the cluster pattern showed correlation with the locations of the D. officinale populations. These results were supported by the previous conclusions that were achieved by other molecular markers, and RAMP is proved to be effective for evaluating the genetic diversity of wild populations of Dendrobium officinale.

This study was aimed to analyze four diagnostic methods of AIDS patients with HAART complicated with anemia and hyperlipidemia. Characteristics of traditional Chinese medicine (TCM) and common pathogenesis were discussed in this article. This study was supported by Key Project of the National Eleventh-Five Year Research Program of China. This study was conducted through the retrospective analysis. This analysis was made on the four diagnostic methods of AIDS patients with HAART treatment. The results showed that the most frequent symptoms of AIDS patients with anemia or hyperlipidemia are fatigue, facial abnormalities, taste abnormalities, forgetfulness, backache, weakness of back, loss of appetite, insomnia. And the frequent tongue and pulse are white tough coating, pale tongue and fine pulse. The most frequent symptoms of the anemia group are facial abnormalities, backache, dizziness, palpitations, shortness of breath, pale complexion, abnormal state of mind, abnormal sweating, tinnitus, cold hands and feet, spontaneous sweating, white tongue coating, tooth-printed tongue, thin tongue coating and weak pulse (P < 0.05). The most frequent symptom of hyperlipidemia are lassitude, weakness, loss of appetite, abdominal distension, moisture tongue, thick and greasy tongue coating, slippery pulse. It was concluded that syndromes of AIDS patients on ARV complicated with anemia and hyperlipidemia are mainly deficient pattern, which affects the spleen, heart, liver and kidney. The most frequent syndrome type with anemia patients is blood deficiency, which is followed by spleen-kidney deficiency syndrome, liver-kidney deficiency syndrome. The most frequent syndrome type with hyperlipidemia patients is spleen qi deficiency and kidney essence deficiency, which are closely related to the spleen and kidney.