Simultaneous determination of seven bioactive compounds and pharmacokinetics in rat plasma after oral administration of Yindan Xinnaotong Ruanjiaonang by UPLC-MS/MS / 中国中药杂志

To estabish ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method for simultaneous determination of quercetin(QCT), isorhamnetin(ISR), kaempferol(KMF), ginkgolide A(GA), ginkgolide B(GB), ginkgolide C(GC) and bilobalide(BB) in rat plasma and investigate the pharmacokinetic process of seven compounds after oral administration of Yindan Xinnaotong Ruanjiaonang, The results indicated that all calibrations curves showed good linearity (r≥0.997 1). RSD of intra-day and inter-day precisions were all within 11%. The matrix effects and extraction recovery were in the range of 93.28%-103.6% and 72.43%-95.77% respectively. The peak concentration (Cmax) of QCT, ISR, KMF, GA, GB, GC and BB were (45.02±11.28), (49.90±13.82), (27.85±8.38), (76.31±18.19), (76.54±15.43), (35.35±10.28), (48.70±12.34) μg•L⁻¹, respectively. The peak time (tmax) of seven constituents were (0.33±0.11), (0.50±0.23), (0.33±0.14), (0.75±0.29), (1.0±0.35), (1.5±0.23), (0.75±0.50) h, respectively. UPLC-MS/MS method established in this research was proved to be so rapid and sensitive that it can be applied to the pharmacokinetic study of seven bioactive constituents in Yindan Xinnaotong Ruanjiaonang.

Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>X-linked hearing impairment is clinically and genetically a heterogeneous disease. Although many disorders manifest with hearing loss, a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment. In the present study, we have performed a clinical and genetic analysis of a Chinese family with X-linked non-syndromic hearing loss, with emphasis on audiological findings and genomic mapping.</p><p><b>METHODS</b>The clinical features of Family JX01 were evaluated by physical and audiometric examination in eighteen family members. Mutation screening of POU3F4 was identified by polymerase chain reaction (PCR) amplification and sequencing. Molecular evaluation consisted of X-chromosome wide genotyping by microsatellite makers (STR), followed by analyzing using MLINK computer program.</p><p><b>RESULTS</b>Five affected males demonstrated bilateral, symmetrical sensorineural and profound hearing loss. The hearing impairment started prelingual. The female carriers did not have any complain of hearing loss, however, two of them were tested with milder loss with high frequency. No causative mutations in POU3F4 gene were detected by DNA sequencing. Linkage analysis indicated that the responsible gene was linked to locus DXS1227 (maximum lod score = 2.04 at theta = 0).</p><p><b>CONCLUSIONS</b>The affected males in Family JX01 have profound prelingual sensorineural hearing impairment. In addition, two female carriers showed mild to moderate hearing losses. However, none of females complained of any hearing loss. Analysis of hereditary deafness in this family mapped most compatibly to the Xq27.2.</p>

Three-dimensional CT imaging in the treatment of children's developmental dislocation of hip / 中国骨伤

<p><b>OBJECTIVE</b>To investigate the value of 3-dimensional CT in the treatment of developmental dislocation of hip (DDH).</p><p><b>METHODS</b>From 2003.6 to 2007.6, the femoral neck anteversion (FNA) and morphology of acetebulum in 53 patients with DDH (61 hips) were studied by three-dimensional CT imaging. Among the patients, 12 patients were male and 41 patients were female, ranging in age from 3 to 16 years (mean 5.6 years). Thirty-four patients had dislocation in left hip joint, 11 patients had dislocation in right hip joints, and 8 patients had double dislocations. The patients were treated with Pemberton or Chiari acetabuloplasty and femoral osteotomy. After operation all the cases were obeserved by 3-dimensional CT again. The femoral neck anteversions were measured and the shapes of new acetabulum were observed.</p><p><b>RESULTS</b>Among 61 hips of DDH, the maximum femoral neck anteversion was 90 degrees. The minimum was 35 degrees and the average was (45.6 +/- 11.4) degrees. Among 45 normal hips, the average femoral neck anteversion was (23.5 +/- 10. 2) degrees. The acetabulum were dysplastic according with what were found in the operation. After operation the femoral neck anteversions decreased and averaged (15.6 +/- 5.8) degrees. The femoral head containment improved.</p><p><b>CONCLUSION</b>The advantages of 3D CT scan includes manifestation of acetebular morphology, correct measurement of femoral neck anteversion and evaluation of operative procedure and efficacy. The 3-dimensional CT method is deserved to use widely in the treatment of developmental dislocation of hip in children.</p>

Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Waardenburg syndrome type I (WS1) is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese. In order to explore the genetic background of Chinese WS1 patients, a mutation screening of PAX3 gene was carried out in four WS1 pedigrees.</p><p><b>METHODS</b>A questionnaire survey and comprehensive clinical examination were conducted in four Chinese pedigrees of WS1. Genomic DNA from each patient and their family members was extracted and exons of PAX3 were amplified by PCR. PCR fragments were ethanol-purified and sequenced in both directions on an ABI_Prism 3100 DNA sequencer with the BigDye Terminator Cycle Sequencing Ready Reaction Kit. The sequences were obtained and aligned to the wild type sequence of PAX3 with the GeneTool program.</p><p><b>RESULTS</b>Two nonsense PAX3 mutations have been found in the study population. One is heterozygous for a novel nonsense mutation S209X. The other is heterozygous for a previously reported mutation in European population R223X. Both mutations create stop codons leading to truncation of the PAX3 protein.</p><p><b>CONCLUSIONS</b>This is the first demonstration of PAX3 mutations in Chinese WS1 patients and one of the few examples of an identical mutation of PAX3 occurred in different populations.</p>

Audiological and vestibular evaluation of new coagulation factor C homology mutation carriers in a Chinese family / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical features of audiological and vestibular function in a Chinese family with late onset autosomal dominant nonsyndromic sensorineural hearing loss.</p><p><b>METHODS</b>Comprehensive audiological and vestibular evaluation including pure tone audiometry, auditory brainstem response (ABR), electrocochleogram (EcochG), oculomotor testing, caloric tests, rotational testing, computerized dynamic posturography and vestibular evoked myogenic potentials (VEMP) were conducted to identify the hearing and vestibular impairment.</p><p><b>RESULTS</b>All affected family members shared sensorineural hearing loss with full penetrance starting between the second and fifth decade of life as a high frequency loss which progresses to a severe to profound loss at the sixth to seventh decade. The extensive vestibular evaluation indicated that all affected members performed normally in computerized dynamic posturography and caloric testing. Impairment of the saccular otolith in all of six affected members was suggested by results of the VEMP test. The velocity step test generated abnormal time constants and sinusoidal oscillation test generated abnormal gains and phase in affected members indicated that horizontal canal vestibular hyporeflexia in history. All affected subjects examined in this family showed completely normal ocular motor responses in oculomotor testing, including smooth pursuit, optokinetic nystagmus, gaze and saccade.</p><p><b>CONCLUSIONS</b>The predominant feature of the Chinese DFNA9 family was that all the affected subjects harboring COCH mutation in the vWFA2 domain didn't suffer the vestibular symptoms during their life time and comprehensive vestibular assessment revealed only subtle vestibular hypofunction in affected members of this family. There is a genotype-phenotype correlation in DFNA9.</p>

Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To determine the prevalence of a common GJB2 mutation in a big Chinese population of deaf children and the features of its distribution in regions all over the nation and to provide epidemiology data and expertise for genetic testing of deafness in China.</p><p><b>METHODS</b>The DNA samples of NSHI patients and normal controls were collected from different typical areas of China. The method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with ApaI was used to determine the genotype of GJB2 235 site.</p><p><b>RESULTS</b>Totally 16.3% of patients carried at least one 235 delC mutant allele. Among them, 7.8% was homozygous and 8.5% was heterozygous. The prevalence of GJB2 235delC mutation in China was evident, and the significant difference of 235delC mutation frequency was found in sub-population from different areas and different ethnic groups.</p><p><b>CONCLUSIONS</b>Based upon the result of this screening as stated, Chinese NSHI patients appear to have 235delC frequency and the number of GJB2 related deafness was estimated to be huge. The testing of GJB2 235delC mutation would play an important role in genetic diagnosis and screening in China. As high as 15% of patients could be diagnosed as GJB2 caused deafness (bi-allelic mutation) only by means of this simple, fast and economic assay. In addition, patients were negative for 235delC mutation would be candidates for further mutational analysis of GJB2 or other deafness related genes.</p>

Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To establish the method of clinic genetic testing for common deaf genes such as mtDNA nt1555, GJB2 gene and SLC26A4 (Pendrin's syndrome gene, PDS) gene.</p><p><b>METHODS</b>Three hundred and sixty seven sporadic patients with hearing loss from out-patient department of General Hospital of Chinese People's Liberation Army, 60 patients with history of maternal inherited hearing loss from 27 family, 20 congenital deaf patients from special educational school for deaf and dumb, 3 deaf patients with enlarged vestibular aqueduct (EVA) confirmed by CT scan, 50 control individuals with normal bone conductive hearing were analyzed. The genetic testing kit for mtDNA A1555G mutation was used to detect mtDNA A1555G mutation. The whole gene sequencing were accomplished in 20 congenital deaf patients. In 3 patients with EVA, fragments covering all exons of PDS gene were analyzed by denatured high productive liquid chromatogram and special exons were sequenced when DHPLC showed abnormal wave patterns of amplicons covering these exons.</p><p><b>RESULTS</b>Fifty nine patients from 26 family and 5 sporadic patients were found to carry mtDNA A1555G mutation. Among 20 congenital deaf patients, 2 cases were found to have homozygous GJB2 235 del C mutation, 1 case had compound 235del C and 299-300 del AT mutation. Other 2 cases carried heterozygous 109 A-G mutation. Among 3 patients with EVA, 1 case was found to have heterozygous PDS G316X mutation and other 2 cases had homozygous 919-2 A-G mutation. CONCLUSIONS Genetic testing for deafness is feasible procedure with remarkable clinic significance.</p>