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Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases

World Journal of Methodology 2014年第4期4卷 197-218页

作者： annita kolnagou Christina N Kontoghiorghe George J Kontoghiorghes Postgraduate Research Institute of Science Technology Environment and Medicine Limassol 3021 Cyprus

Thalassaemia major(TM) and Friedreich's ataxia(FA) are autosomal recessive inherited diseases related to the proteins haemoglobin and frataxin respectively. In both diseases abnormalities in iron metabolism is the main cause of iron toxicity leading to increased morbidity and mortality. Major efforts are directed towards the prevention of these diseases and also in their treatment using iron chelation therapy. Both TM and FA are endemic in Cyprus, where the frequency per total population of asymptomatic heterozygote carriers and patients is the highest worldwide. Cyprus has been a pioneering nation in preventing and nearly eliminating the birth of TM and FA patients by introducing an organized health structure, including prenatal and antenatal diagnosis. Effective iron chelation therapy, improved diagnostic methods and transfusion techniques as well as supportive therapy from other clinical specializations have improved the survival and quality of life of TM patients.Despite the tiresome clinical management regimes many TM patients are successful in their professional lives, have families with children and some are now living well into their fifties. The introduction of deferiprone led to the elimination of cardiac failure induced by iron overload toxicity, which was the major cause of mortality in TM. Effective combinations of deferiprone with deferoxamine in TM patients caused the fall of body iron to normal physiological ranges. In FA different mechanisms of iron metabolism and toxicity apply to that of TM, which can be targeted with specific iron chelation protocols. Preliminary findings from the introduction of deferiprone in FA patients have increased the hopes for improved and effective therapy in this untreatable condition. New and personalised treatments are proposed in TM and FA. Overall, advances in treatments and in particular of chelation therapy using deferiprone are transforming TM and FA from fatal to chronic conditions. The paradigm of Cyprus in the prevention and treatment of TM can be used for

关键词： Thalassaemia Friedreich ataxia Prenatal diagnosis Survival Chelation therapy Deferiprone Deferoxamine Cyprus

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Conservation genetics of a resident population of Greylag Goose(Anser anser) at the southernmost limit of the species' distribution in Europe

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Avian Research 2019年第1期10卷 53-62页

作者： Anastasios Bounas Giorgos Catsadorakis annita Logotheti Berend Voslamber Antonios Magoulas Dimitris Tsaparis Molecular Ecology and Conservation Genetics Lab Department of Biological Applications and TechnologyUniversity of Ioannina Society for the Protection of Prespa Sovon Dutch Centre for Field Ornithology Institute of Marine Biology Biotechnology and Aquaculture(IMBBC)Hellenic Centre for Marine Research(HCMR)

Background:Conservation of small and isolated populations can be challenging since they are prone to loss of genetic diversity due to random genetic drift and inbreeding.Therefore,information from the assessment of genetic diversity and structure are needed for conservation programs to determine the appropriate management strategy for the populations.We investigated the levels of genetic variability in a resident Greylag Goose(Anser anser) population,the southernmost breeding population of the species in Europe and the sole viable population of any goose species in Greece.Methods:A fragment of mtDNA Control Region and a panel of 11 microsatellite markers were used to search for any signs of genetic impoverishment and population substructure and to reveal the underlying processes through the identification of possible past demographic events.Results:The population was found to be monomorphic in the amplified fragment of the mitochondrial Control Region,with all individuals sharing a single private haplotype.Analyses showed a lack of any population substructure indicating a panmictic population.Although the population seems to have experienced a strong and recent genetic bottleneck and exhibits a small effective population size,we did not find evidence of either extremely low levels of genetic diversity or inbreeding depression.Conclusions:The recent demographic decline we detected and the combined influence of residency and anthropogenic factors have probably shaped the current genetic status.Our study population does not need emergency conservation actions but should be regarded as a discrete management unit.Future management strategies should focus on population and genetic monitoring and preventing further abundance declines that would increase the risk of genetic impoverishment.

关键词： Conservation Genetic variability Inbreeding Isolation Management units Microsatellites mtDNA Nonmigratory population

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张友宪欧洲写生系列作品

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航空港 2011年第3期 76-78页

作者： annita 法国欧亚文化教育交流促进会

画家简介:张友宪,南京人,别署二乾书屋主人。现为南京艺术学院美术学院院长、教授,硕士研究生导师,同时担任中国画人物、山水、花鸟硕士研究生的培养工作,著名中国画家。1989年在南京师范大学首次举办个人画展"张友宪聊斋人物画展";199... 详细信息

画家简介:张友宪,南京人,别署二乾书屋主人。现为南京艺术学院美术学院院长、教授,硕士研究生导师,同时担任中国画人物、山水、花鸟硕士研究生的培养工作,著名中国画家。1989年在南京师范大学首次举办个人画展"张友宪聊斋人物画展";1992年在上海美术馆举办第二次个人画展;1993年在江苏省美术馆举办"张友宪画展";1995年组织并参与南京艺术学院中国画教师作品系列展;1996年应邀赴厦门大学艺术学院授课并举办个人画展;1997年应邀参加江苏美术家赴德国画展;

关键词：系列作品江苏省美术馆上海美术馆中国画家个人画展美术学院院长教师作品巴比松硕士研究生

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