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Objective: To carry out genetic testing for a family affected with distal hereditary motor neuronopathy V (dHMN V)., Methods: Potential mutations of the GARS and BSCL2 genes were analyzed with PCR and Sanger sequencing. Suspected mutation was verified among unaffected members of the family and 100 healthy controls. Prenatal diagnosis was provided based on the above results., Results: Sequencing analysis has identified a heterozygous c.269C>T (p.S90L) mutation in the BSCL2 gene, which resulted in replacement of Serine (TCG) to Leucine (TTG). The same mutation was found in all other 3 patients from the pedigree but not among unaffected members or the 100 healthy controls. By prenatal diagnosis, the fetus did not carry the above mutation., Conclusion: Pathogenic mutation of BSCL2 gene probably underlies the dHMN V in this pedigree, which enabled prenatal diagnosis for the proband.

Severe Acute Respiratory Syndrome (SARS) is a newly emerged, highly contagious disease. Health care workers remain the majority of total infections. The second SARS Medical Team of Peking University First Hospital was founded on May 1, 2003, which consist of 95 health care workers. During the working days in SARS wards and following isolation period no SARS cases were diagnosed. This investigation is aimed to give a detailed report on infection control precaution taken by this medical team. It was concluded that reasonable and strict infection control precaution help to reduce infection rate among health care workers, and careful supervision helped to achieve the reduction.

Objectives: To investigate the prevalence of SARS infection in medical workers and the efficacy of isolation precautions in the hospital., Methods: A retrospective analysis was employed to study the prevalence of SARS infection in medical workers who contacted with SARS patients directly. The data were analyzed with EPI statistic soft ware., Results: From March 15th, 2003 to May 18th, 2003, 224 patients with clinical confirmed SARS and 72 patients with clinical suspected SARS were presented in our hospital. The principle and system of the isolation precautions were established and implemented in our hospital. Seven hundreds and twenty medical workers including doctors, nurses and nurse-assistants were involved in the medical care of patients with SARS. Eighteen out of the 720 (2.43%) medical workers were infected with SARS, most of them were from the department of emergency, and the majority of infected medical workers were nurse-assistants. After the isolation precautions in hospital were established, the spreading of SARS in medical stuffs declined dramatically. The medical workers infected with SARS were 7.20% of SARS patients presented or hospitalized in our hospital. The infection rate was significantly lower than that of the average rate in our country., Conclusion: The isolation precautions taken in our hospital was effective.