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101.
Helen Fogarty Muskan Sardana Luke Sheridan Phoebe Chieng Sarah Kelly Noel Ngwenya Ciara Sheehan Kieran Morris Emma Tuohy 《Trasfusione del sangue》2023,21(1):13
BackgroundMinority blood donation, especially from individuals of African ethnicity, is a focus for many countries with diverse populations. As the need for antigen-negative RBC transfusions for patients with Sickle Cell Disease (SCD) continues to grow, inclusion of more African blood donors is essential to ensure this demand is met.Materials and methodsThis study aims to explore barriers and motivators to blood donation and awareness of SCD among potential donors of diverse ethnic backgrounds in Ireland. Following ethical approval, patients attending the National Sickle Cell Disease and Thalassemia service at St James’s Hospital were invited to share an online anonymous survey within their local communities to achieve snowball-sampling.Results387 respondents completed the survey, including 311 non-donors (median age 25 years, 67% female). Ethnic backgrounds included: African or African-Irish (59%), White or Caucasian (25%), Asian (8%), Hispanic or Latino (3%), Middle Eastern (3%), Multiracial or Biracial (2%). The most commonly identified barrier overall was lack of information on blood donation. African respondents were significantly more likely to report lack of information and malaria-related barriers than Caucasians. Motivators also varied across ethnic groups, with African respondents more likely to donate to help someone within their own community or for religious motivators. Awareness of SCD was higher among African respondents.DiscussionWhile some barriers to blood donation are shared across all ethnic groups including lack of information, notable differences exist between Caucasian and African respondents. Specific actions to recruit and retain African blood donors should focus on these key areas. 相似文献
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Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency 总被引:4,自引:2,他引:2
Dupuis L; Leon-Del-Rio A; Leclerc D; Campeau E; Sweetman L; Saudubray JM; Herman G; Gibson KM; Gravel RA 《Human molecular genetics》1996,5(7):1011-1016
Holocarboxylase synthetase (HCS) catalyses the biotinylation of the four
biotin-dependent carboxylases found in humans. A deficiency in HCS results
in biotin-responsive multiple carboxylase deficiency (MCD). We have
identified six different point mutations in the HCS gene in nine patients
with MCD. Two of the mutations are frequent among the MCD patients
analyzed. Four of the mutations cluster in the putative biotin- binding
domain as deduced from the corresponding Escherichia coli enzyme and
consistent with an explanation for biotin-responsiveness based on altered
affinity for biotin. The two others may define an additional domain
involved in biotin-binding or biotin-mediated stabilization of the protein.
相似文献
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Pseudoaneurysms complicating organ transplantation: roles of CT, duplex sonography, and angiography 总被引:2,自引:0,他引:2
Tobben PJ; Zajko AB; Sumkin JH; Bowen A; Fuhrman CR; Skolnick ML; Bron KM; Esquivel CO; Starzl TE 《Radiology》1988,169(1):65-70
In a retrospective study of proved pseudoaneurysms (PAs) in 15 patients with transplanted organs (11 liver, three kidney, one pancreas), the results of computed tomography (CT), duplex sonography, and angiography were reviewed. Of the 15 cases of PA, eight occurred at the arterial anastomosis and seven were nonanastomotic. Three of the eight anastomotic PAs were caused by infection. Of the seven nonanastomotic PAs, four were caused by percutaneous biopsy, two were caused by infection, and one was of undetermined cause. In nine (60%) of the 15 patients the PAs were incidentally detected at imaging studies performed for other reasons. Diagnosis requires a high degree of suspicion. CT was performed in nine cases and duplex sonography in ten. The diagnosis of PA was made with CT in six (67%) patients and with duplex sonography in five (50%). CT and duplex sonography could not enable diagnosis when the PA was small, when the arterial anastomosis was not included in the field of study, or when enhancement with intravenously administered contract material was suboptimal. Angiography depicted the PAs in all 15 patients. In three liver transplant recipients with gastrointestinal tract bleeding, the causative PAs were detected only with angiography. 相似文献
109.
OBJECTIVE: To assess the reported association between field trisomy 13 and maternal pre-eclampsia. DESIGN: A retrospective case-control study. SUBJECTS: Twenty-five women who gave birth to trisomy 13 infants in southwest England between 1971 and 1989; 38 women who gave birth to trisomy 18 infants in the same region over the same time and 50 women with normal karyotype infants matched for age, parity, and date of delivery with the trisomy 13 group. MAIN OUTCOME MEASURES: The medical records of all the women in the three groups were analysed for evidence of pre-eclampsia. Four different thresholds of pre-eclampsia were used. The incidence of pre-eclampsia was compared between the three study groups and analysed separately for primigravid and multigravid women. RESULTS: The incidence of pre-eclampsia in pregnancies complicated by trisomy 13 was significantly higher than the incidence in the trisomy 18 and the normal karyotype control groups. This association was more pronounced in primigravid pregnancies. CONCLUSIONS: This, the largest survey of trisomy 13 and pre-eclampsia to date, suggests an association between the two conditions. It also supports the argument for a fetal factor in the pathogenesis of pre-eclampsia. We speculate on how genes encoded on chromosome 13 may be responsible. 相似文献
110.