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Didem Torun Gülhis Deda Mehmet Ertem Zümrüt Uysal Erkan Yılmaz Nejat Akar 《Molecular biology reports》2013,40(9):5465-5468
Protein C inhibitor is a heparin dependent serine protease inhibitor found in human plasma, urine and other body fluids. It was originally identified as an inhibitor of activated protein C. Stroke is an important cause of morbidity and mortality in the pediatric age group. In this study we analyzed the protein C inhibitor gene mutations in Turkish pediatric stroke patients. We found a missense mutation of G to A at nucleotide 6760 in exon 2, resulting in a transition serine to asparagine (p.Ser188Asp) and in a child and his father and also we found same alteration in exon 2 in an another pediatric stroke case following bone marrow transplantation. 相似文献
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Bagrey MM Ngwira Phillimon Tambala A Maria Perez Cameron Bowie David H Molyneux 《Filaria journal》2007,6(1):1-7
Background
Papua New Guinea is the only endemic country in the Western Pacific Region that has not yet introduced a countrywide programme to eliminate lymphatic filariasis. However, on Misima Island in Milne Bay Province, government and private sectors have collaborated to implement a pilot elimination programme. Although interim evaluation indicated that the programme has been parasitologically successful, an appreciation that sustainable health gains depend on understanding and accommodating local beliefs prompted this qualitative study.Methods
We investigated Misima community members knowledge and attitudes about lymphatic filariasis and the elimination programme. A combination of focus groups and key informant interviews were used to explore participants perceptions of health; knowledge of the aetiology and symptoms of filariasis, elephantiasis and hydrocele; attitudes towards the disease and mass drug distribution; and the social structure and decision-making protocols within the villages.Results
Focus group discussions proved inferior to key informant interviews for gathering rich data. Study participants did not consider lymphatic filariasis ("pom") a major health problem but were generally positive about mass drug administration campaigns. A variety of conditions were frequently and incorrectly attributed to filariasis. Participants expressed the belief that individuals infected with filariasis always had visible manifestations of disease. A common misconception was that taking drugs during campaigns provided long-term immunity against disease. The role of mosquito vectors in transmission was not generally appreciated and certain clinical presentations, particularly hydrocele, were associated with supernatural forces. Multiple adverse events were associated with mass drug administration campaigns and most study participants mentioned community members who did not participate in campaigns.Conclusion
Important issues requiring educational intervention and elimination activity modification in the Misima region were identified during this study. Research outcomes should assist Papua New Guinea in developing and implementing a national elimination strategy and inform discussions regarding the appropriateness of current elimination strategies. 相似文献106.
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Koç A Bahce M Sanal HT Uludag A Kozan S Torun D Ustunsoz B Guran S 《Genetic counseling (Geneva, Switzerland)》2011,22(2):129-134
A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome. 相似文献
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Mirjafari H Farragher TM Verstappen SM Yates A Bunn D Marshall T Lunt M Symmons DP Bruce IN 《Arthritis research & therapy》2011,13(5):R159
Introduction
Cardiovascular disease (CVD) is the leading cause of death in patients with inflammatory polyarthritis (IP), especially in seropositive disease. In established rheumatoid arthritis (RA), insulin resistance (IR) is increased and associated with CVD. We investigated factors associated with IR in an inception cohort of patients with early IP. 相似文献109.
Torun Ekblad Anna Orlova Joachim Feldwisch Anders Wennborg Amelie Eriksson Karlström Vladimir Tolmachev 《Bioorganic & medicinal chemistry letters》2009,19(14):3912-3914
Affibody molecules represent a novel class of affinity proteins with a high potential as tracers for radionuclide molecular imaging. In this comparative structure–property study, a series of Affibody molecules with the 99mTc-chelators maGGG, maSSS, or maESE attached to the ε-amine of the internally positioned K49 was prepared by peptide synthesis, for comparison to molecules with similar chelators positioned at the N-terminus. The conjugates were labeled with 99mTc and evaluated in vitro and in vivo. It was found that both composition and position of the chelating moiety influence the label stability, biodistribution and targeting properties of HER2-binding Affibody molecules. 相似文献
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