Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations in a Chinese family with Usher syndrome type II.</p><p><b>METHODS</b>Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls.</p><p><b>RESULTS</b>The patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database.</p><p><b>CONCLUSION</b>The novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.</p>

Mutational analysis of GJB2 gene in a Chinese family with nonsyndromic hearing loss / 重庆医学

Objective To analyze the clinical and genetic features of a Chinese family with nonsyndromic hearing loss ,and to find deafness‐causing mutations in the GJB2 gene .Methods After a detailed history and clinical examination ,genomic DNA was ex‐tracted from peripheral blood for the proband and their family members .Two exons of the GJB2 gene was amplified by polymerase chain reaction ,and the PCR products were subjected to automatic DNA sequencing .Finally ,the mutation analysis was performed by SeqMan software of DNASTAR to compare BLAST .Results All patients in this family had late‐onset and progressive hearing loss and ultimately involved all frequencies .Six SNP polymorphisms were found in this pedigree ,which were previously reported world‐wide ,c .79G > A(p .Val27Ile) ,c .341G > A(p .Glu114Gly) ,were also identified in this family .Four single nucleotide polymorphisms (SNPs) were firstly identified in the GJB2 3′‐UTR ,including g .4159T > C ,g .5142G/T ,g .5227G/A ,g .5352T /C .Two SNPs .Con‐clusion Mutation in exons of GJB2 gene was excluded as a pathogenic cause for nonsyndromic hearing loss in this family .

Selecting solvent and solubilizer for puerarin nasal drops by solubility and irritation / 中国中药杂志

In order to test the equilibrium solubility of puerarin in different solvents and solubilizer,cilia toxicity and irritation of these excipient, the balance method, toad in the ciliary body toxicity and rat nasal mucosa irritation were used respectively. Results showed that puerarin solubility was 56.44 g x L(-1) in combined solvent of 30% PEG200 and 10% Kolliphor HS 15. With normal saline solution as negative control and sodium deoxycholate as positive control, the effects of 30% PEG200, 30% PEG 400, 10% Kolliphor HS 15 and combination of 30% of PEG200 and 10% Kolliphor HS 15 on toad palate cilium were observed and cilia movement duration was recorded. The results indicated that there was no significant difference in cilia movement duration among 30% PEG200, 10% Kolliphor HS 15 and normal saline group. The rats long-term nasal mucous membrane irritation of 30% PEG 400, 10% Kolliphor HS 15, which had no cilia toxicity, was studied, with normal saline solution as negative control. There were no significant difference revealed on rat nasal mucosa epithelial thickness among 30% PEG 400, 10% Kolliphor HS 15 and normal saline. Above researches showed 30% PEG 400, 10% Kolliphor HS 15 was ideal for solubility of puerarin nasal drops and showed a lower cilia toxicity and irritation, and can be used as the solvent and solubilizer of puerarin nasal drops.

Studies on release behavior of sustained release tablets of extracts of Gardenia by antioxidant activity / 中国中药杂志

Using sustained release tablets of gardenia extract as model drug and DPPH radical scavenging capacity as antioxidant index, the feasibility of using pharmacodynamics index was explored to evaluate sustained release tablets. Applying the established quantifiable method of DPPH radical scavenging to the dissolved liquid of model drug, release profiles and biological effects profiles were drawn, and their correlation was discussed. A good correlation was observed by linear regression and f2 actor, suggesting that the indicator could be used to evaluate sustained release tabletsofextracts of gardenia in which iridoids were mainly involved.

Analysis of the fracture processes in all-ceramic crowns by finite element analysis / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To analyze the effects of core material and design on the fracture mechanism of veneered all-ceramic crowns.</p><p><b>METHODS</b>The fracture process of 6 veneered alumina or zirconia crowns with different core design (well-distributed core, not well distributed core, and core with cervical ring) under load was analyzed by RFPA'2D finite element analysis software.</p><p><b>RESULTS</b>All the six tested crowns fractured due to tension failure, and the crack started at the porcelain in the cusp and spread along the interface between core and porcelain. Under the conditions of this test, the break was only related to the porcelain and not the core, and the crack of porcelain took place earlier in zirconia crowns than in alumina crowns. Minimum stress distribution in cervical ring core design crown and maximum stress distribution in not well distributed core design crown could be seen at the neck area.</p><p><b>CONCLUSIONS</b>Zirconia crowns presented greater stress at the interface between core and porcelain than alumina crowns. The not well distributed core design did not increase the rise of break. The neck area was the weak area with tensile stress concentration in the cervical ring core design.</p>

Development of hip joint simulators / 中国医疗器械杂志

Currently, hip replacement is an effective treatment for some hip joint diseases. The friction and wear of a prothesis in the human body are the main causes for the failure of joint arthroplasty. It is, therefore, very important to simulate the working conditions of a hip prosthesis in order to get an optimal design and successful clinical applications. This article summarizes wear testing methods of hip prostheses and the developing status of their simulators. Three key aspects of the simulators, i.e., the structures, motions and lubrications, are analyzed in detail. At the end, the developing trend of the simulators are discussed.