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Objective To summarize the clinical and the molecular genetic characteristics of type DYT11 dystonia by analyzing the clinical data and pathogenic gene mutation of type DYT11 dystonia of a myoclonus-dystonia syndrome (MDS) family.Methods A MDS family enrolled in the General Hospital of the People's Liberation Army Rocket Force in January 2018 was retrospectively analyzed.The clinical data of 11 affected family members were collected and genetic testing of four affected family members (including the proband) of the MDS family was conducted using a panel of dystonia-associated genes.Results The affected family members showed great differences in clinical characteristics and obvious clinical heterogeneity.Four affected family members had myoclonus and dystonia,two affected family members only had myoclonus and five affected family members only had dystonia.The results of genetic testing showed that the proband,his father and his grandfather had a mutation (c.835_839delACAAA) in SGCE gene,which is autosomal dominant and belongs to type DYT11 dystonia.Conclusions MDS shows clinical heterogeneity.Gene screening is of great importance for the diagnosis and treatment of dystonia with myoclonus.
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Objective To investigate the correlation between opportunistic infections in patients with HIV /AIDS in Dali of Yunnan Province and CD +4 lymphocyte count,discover the incidence trend of opportunistic infections in patients with HIV /AIDS in Dali and instruct early diagnosis and treatment.Methods Choosing 454 cases of opportunistic infections in patients with HIV /AIDS in Infectious Disease Dali Prefectural Hospital were chosen,ana-lyze various opportunistic infections,examining CD +4 lymphocyte count and analyze the differences of opportunistic infections on CD +4 lymphocyte count.Results 454 cases opportunistic infections with HIV /AIDS,48.24% were HCV infections,38.72% of various tuberculosis consumption phthisis,28.41% of bacterial pneumonia and 25.77%of oral condida monilia infections,high rate of opportunistic infections when CD +4 lymphocyte count 350 /μL of 5.56%(χ2 =34.88,P <0.01);The high rate of opportunistic infections found on patients without the treatment of HAART(40.83%,U =9.05,P <0.01),comparing to 18.79% of those with the treatment.Conclusion The com-mon opportunistic infections in our area are HCV,various tuberculosis consumption phthisis,bacterial pneumonia and oral condida monilia infections;high rate of opportunistic infections happens when CD +4 lymphocyte count are low and lower rate on those with the treatment of HAART,offering an effective method on controlling opportunistic infections.
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This paper introduces the technical parameters,basic principle and investigation method of the multiparameter supervisor.The functions and implementation methods of its components are also presented.The supervisor can provide much physiological information of the patients to medical staffs.Thus,the level of medical supervision and analysis can be enhanced.The multiparameter supervision can be realized when the microcomputer system with PC-104construction is adopted to analyze the received signals and filter the interfering signals resulting from the random variations of frequency and amplitude.