Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation in a Chinese family affected with Charcot-Marie-Tooth disease(CMT).</p><p><b>METHODS</b>Clinical data of the family was collected, and genomic DNA was extracted from peripheral blood samples of the family members. Seventy-two candidate genes of the proband were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. The protein structure was predicted with PyMOL-1 software.</p><p><b>RESULTS</b>A homozygous missense mutation c.1894G>A(p.E632K) was identified in the exon 11 of the SH3TC2 gene in the proband. Heterozygous c.1894G>A mutation was also detected in the proband's father, mother and daughter, but not in the healthy family members and 300 normal controls. Retrieval of the NCBI, HGMD and 1000 genome databases has verified the c.1894G>A to be as a novel mutation. Computer simulation has suggested that the mutation has altered the 3D structure of the SH3TC2 protein.</p><p><b>CONCLUSION</b>The proband was diagnosed as CMT4C, for which the underlying gene was SH3TC2. This finding has expanded the spectrum of SH3TC2 mutation in association with CMT4C.</p>

The application of sodium hyaluronate combined with triamcinolone acetonide for osteoarthritis of knee joint / 中国医师进修杂志

Objective To compare the therapeutic effect of intraarticular injection with sodium hyaluronate (SH) and SH combined with triamcinolone acetonide for osteoarthritis (OA) of knee joint.Methods Eighty-two patients with OA of knee joint were divided into two groups by toss a coin from March 2010 to March 2011.Forty-two patients simplely accepted SH injection (SH group),40 patients accepted SH combined with triamcinolone acetonide (combination group).Intraarticular injection was taken once a week,a total of 5 times.Efficacy measurements included visual analog scale (VAS) for pain and safety.Results After treatment for 1 week,the measured value of VAS for up and down stairs in combination group was significantly lower than that in SH group [ (22.6 ± 6.1 ) mm vs.(63.9 ± 5.8 ) mm] (P ＜ 0.05 ).After treatment for 3,6 months,the measured value of VAS for up and down stairs in two groups had no significant difference [ (42.2 ± 6.6) mm vs.(41.1 ± 5.3) mm,(48.5 ± 5.5) mm vs.(49.3 ± 6.2) mm] (P ＞ 0.05).Function of the knee joint after treatment was better than before treatment in two groups.Adverse effects were minimal. Conclusions Intraarticular injection of SH and SH combined with triamcinolone acetonide OA of knee joint is a safe and effective method.SH combined with triamcinolone acetonide can improve the efficacy in early period.

Differential attachment, chemicals and trypsinization to purify olfactory ensheathing cells: Comparison with differential attachment or chemicals alone / 中国组织工程研究

BACKGROUND: Reports of culture condition of olfactory ensheathing cells (OECs) vary. And some methods have bad reproducibility, not appropriate for actual application.OBJECTIVE: To observe the effect of differential attachment, chemicals in combination with trypsin digestion to purify rat OECs in vitro and to compare the effect with differential attachment or chemicals alone.DESIGN, TIME AND SETTING: In vitro controlled observation of cytology was performed at the Laboratory of Department of Human Anatomy & Histology and Embryology, Fujian Medical University from June 2007 to June 2008.MATERIALS: A total of 8 SD rats, 2 days old, were provided by the Laboratory Animal Center of Fujian Medical University.METHODS: The OECs were dissociated from the postnatal rat olfactory bulbs under sterile condition, and seeded in poly-L-lysine-coated culture flask at a density of 4.0×10~8 /L for primary culture. The cells were divided into 4 groups: control group (not purified); chemicals group (5 μmol/L arabinose); differential attachement group (Nash differential attachement); combination group (Nash differential attachement to eliminate most of the fibroblasts, followed by arabinose; when the cells were confluent at 6 days, the cells were digested with 1.25 g/L trypsin for 1 minute until the processes were shrank, cells became round, with some cells floating).MAIN OUTCOME MEASURES: Morphological changes of the cultured OECs and NGFRp75 immunocytochemistry were observed.RESULTS: The OECs displayed a very characteristic morphological appearance. Most of OECs were bipolar or tripolar with long and slim processes. In the unpurified control group the rapidly proliferating fibroblasts were in the majority (60%) after 7 days in culture, and confluent at day 14. The OECs occupied the most in the other groups, and their appearance remained unchanged.The surviving bipolar or tripolar OECs were positive for NGFRp75. The purifity by chemicals and differential attacehment methods was low (75%), while the combination group was high (85%).CONCLUSION: The method of purifing OECs through a combination of differential attacehment, chemicals and trypsinization is effective.