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101.
ZINC AND IMMUNE FUNCTION IN DOWN'S SYNDROME 总被引:2,自引:0,他引:2
B. BJÖRKSTÉN O. BÄCK K. H. GUSTAVSON G. HALLMANS B. HÄGGLÖF A. TÄRNVIK 《Acta paediatrica (Oslo, Norway : 1992)》1980,69(2):183-187
Abstract. Björkstén, B., Bäck, O., Gustavson, K. H., Hallmans, G., Hägglöf, B. and Tarnvik, A. (Departments of Clinical Bacteriology, Dermatology, Paediatrics and Pathology, University Hospital, Umeä, Sweden). Zinc and immune function in Down's syndrome. Acta Paediatr Scand, 69: 183, 1980.—Low levels of zinc in serum and high in blood clots were found in 12 patients with Down's syndrome (DS). They also had an immune deficiency characterized by depressed neutrophil chemotaxis, skin hypersensitivity and lymphocyte responsiveness to PHA in vitro . The patients received zinc sulphate, corresponding to 135 mg Zn++ daily. After treatment for 2 months' serum zinc levels had increased, neutrophil chemotactic responsiveness was normal in 11 of the 12 patients and there were improved lymphocyte responses to high doses of PHA in vitro . Delayed skin reactivity to DNCB was also improved in 10 of 11 patients after zinc therapy. Zinc deficiency may in part explain the increased susceptibility to infection in DS. 相似文献
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Christine Tyson Andrew J Sharp Monica Hrynchak Siu L Yong Edward J Hollox Peter Warburton John CK Barber 《European journal of human genetics : EJHG》2014,22(4):458-463
Copy number variants visible with the light microscope have been described as euchromatic variants (EVs) and EVs with extra G-light material at 8q21.2 have been reported only once before. We report four further patients with EVs of 8q21.2 ascertained for clinical (3) or reproductive reasons (1). Enhanced signal strength from two overlapping bacterial artificial chromosomes (BACs) and microarray analysis mapped the EV to a 284-kb interval in the reference genome. This interval consists of a sequence gap flanked by segmental duplications that contain the 12-kb components of one of the largest Variable Number Tandem Repeat arrays in the human genome. Using digital NanoString technology with a custom probe for the RNA exonuclease 1 homologue (S. cerevisiae)-like 1 (REXO1L1) gene within each 12-kb repeat, significantly enhanced diploid copy numbers of 270 and 265 were found in an EV family and a median diploid copy number of 166 copies in 216 controls. These 8q21.2 EVs are not thought to have clinical consequences as the phenotypes of the probands were inconsistent, those referred for reproductive reasons were otherwise phenotypically normal and the REXO1L1 gene has no known disease association. This EV was found in 4/3078 (1 in 770) consecutive referrals for chromosome analysis and needs to be distinguished from pathogenic imbalances of medial 8q. The REXO1L1 gene product is a marker of hepatitis C virus (HCV) infection and a possible association between REXO1L1 copy number and susceptibility to HCV infection, progression or response to treatment has not yet been excluded. 相似文献
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Omnia Elnawawy Andrew CK Lee Gerda Pohl 《The British journal of general practice》2014,64(623):e329-e335
Background
International medical volunteering has grown in recent decades. It has the potential to benefit and harm the volunteer and host countries; but there is a paucity of literature on the impacts of international medical volunteering and a need to find ways to optimise the benefits of such placements.Aim
In this study, one example of international medical volunteering was examined involving British GPs on short-term placements in Nepal. The intention was to explore the expectations and experiences of the local health workers, volunteers, and host organisation to try and understand what makes volunteer placements work.Design
Qualitative study of key informant interviews.Setting
Stakeholders of a short-term international medical volunteer (IMV) placement programme in Nepal.Method
Key informant interviews were carried out via face-to-face or telephone/internet interviews with five previous volunteers, three representatives from a non-governmental organisation providing placements, and five local health workers in Nepal who had had contact with the IMVs. Interviews were recorded, transcribed, and analysed using standard thematic framework approaches.Results
All the stakeholders had their own specific motives for participating in the IMV programme. The relationship between volunteers and the Nepalese health workers was complex and characterised by discrepant and occasionally unrealistic expectations. Managing these different expectations was challenging.Conclusion
Contextual issues and cultural differences are important considerations in medical volunteer programmes, and this study highlights the importance of robust preparation pre-placement for the volunteer and host to ensure positive outcomes. 相似文献110.
TB Chu CW Liao YC Huang YT Chang ASRJ Costa DD Ji T Nara A Tsubouchi Peter WS Chang WT Chiu CK Fan 《Iranian Journal of Parasitology》2012,7(1):67-72