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Association of D/D translocations with fetal wastage and aneuploidy. A report of four families.
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P M Fernhoff D N Singh J Hanson S Trusler C R Dumont A T Chen 《Journal of medical genetics》1976,13(5):389-393
Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data. 相似文献
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Rufina NB Ayogu Ngozi M Nnam Onyinye Ibemesi Franca Okechukwu 《African health sciences》2016,16(2):389-398
BackgroundUnder nutrition is a problem of severe magnitude in low income countries like Nigeria. Adolescent school children might also be vulnerable. The dearth of data hinders planning of school health and nutrition programmes for school children.ObjectiveTo determine the prevalence of stunting, thinness; vitamin A and iron deficiencies among adolescent students in Nsukka urban, Nigeria and to determine factors that are associated with these nutritional problems.MethodsA total of 400 participants were randomly selected from 717 students aged 12 – 18 years in 3 randomly selected secondary schools. Questionnaires, anthropometric measurements, and blood analyses were the data collection methods employed.ResultsThe prevalence of stunting was 33.3% and thinness 31.0%. Neither overweight nor obesity was observed. While 64.0% were anaemic; 44.0% had vitamin A deficiency (VAD). A total of 48.0% had both anaemia and stunting, 42% had VAD + thinness; while 40% had anaemia + VAD. Household income was a predictor of vitamin A status. Children from medium/high income households had higher odds of having VAD than those from low income households (AOR=0.14; 95% CI=0.031, 0.607; P=0.009). Household income (AOR=0.12; 95% CI=0.021, 0.671; P=0.016), and age (AOR=0.09; 95% CI=0.014, 0.587; P=0.012) were independent determinants of height-for-age status.ConclusionAmong urban adolescent students in Nigeria, stunting, thinness, anaemia and VAD were problems of public health significance. Age and household monthly income played major roles. 相似文献
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Morale,stress and coping strategies of staff working in the emergency department: A comparison of two different‐sized departments
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Mariko L. Bennett F. Chris Bennett Shane A. Liddelow Bahareh Ajami Jennifer L. Zamanian Nathaniel B. Fernhoff Sara B. Mulinyawe Christopher J. Bohlen Aykezar Adil Andrew Tucker Irving L. Weissman Edward F. Chang Gordon Li Gerald A. Grant Melanie G. Hayden Gephart Ben A. Barres 《Proceedings of the National Academy of Sciences of the United States of America》2016,113(12):E1738-E1746
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Retinoic acid embryopathy 总被引:61,自引:0,他引:61
E J Lammer D T Chen R M Hoar N D Agnish P J Benke J T Braun C J Curry P M Fernhoff A W Grix I T Lott 《The New England journal of medicine》1985,313(14):837-841
Retinoic acid, an analogue of vitamin A, is known to be teratogenic in laboratory animals and has recently been implicated in a few clinical case reports. To study the human teratogenicity of this agent, we investigated 154 human pregnancies with fetal exposure to isotretinoin, a retinoid prescribed for severe recalcitrant cystic acne. The outcomes were 95 elective abortions, 26 infants without major malformations, 12 spontaneous abortions, and 21 malformed infants. A subset of 36 of the 154 pregnancies was observed prospectively. The outcomes in this cohort were 8 spontaneous abortions, 23 normal infants, and 5 malformed infants. Exposure to isotretinoin was associated with an unusually high relative risk for a group of selected major malformations (relative risk = 25.6; 95 per cent confidence interval, 11.4 to 57.5). Among the 21 malformed infants we found a characteristic pattern of malformation involving craniofacial, cardiac, thymic, and central nervous system structures. The malformations included microtia/anotia (15 infants), micrognathia (6), cleft palate (3), conotruncal heart defects and aortic-arch abnormalities (8), thymic defects (7), retinal or optic-nerve abnormalities (4), and central nervous system malformations (18). The pattern of malformation closely resembled that produced in animal studies of retinoid teratogenesis. It is possible that a major mechanism of isotretinoin teratogenesis is a deleterious effect on cephalic neural-crest cell activity that results in the observed craniofacial, cardiac, and thymic malformations. 相似文献
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目的:制备大鼠在体缺血再灌注模型,观察缺血预处理程序中心肌环磷酸腺苷含量及环磷酸腺苷依赖蛋白激酶活性的变化。方法:实验于2005-03/2006-10在解放军沈阳军区总医院医学实验动物中心和全军心血管研究所实验室完成。实验分组:选用健康雌性SD大鼠36只,根据预适应程序分为第1,2,3次缺血,第1,2,3次再灌注,每一时间点6只大鼠。实验过程:用手术套管法造成左冠状动脉主干缺血及再灌注。所有实验动物在实验程序结束后,取出心脏迅速置液氮保存备用。实验评估:用放射免疫法测环磷酸腺苷水平,生化法测环磷酸腺苷依赖蛋白激酶活性变化。结果:36只大鼠均进入结果分析。①环磷酸腺苷含量:第1次再灌注组低于第1次缺血组[(0.325±0.015),(0.395±0.024)pmol/g,t=6.06,P<0.001],第2次再灌注组低于第2次缺血组[(0.523±0.017),(0.708±0.067)pmol/g,t=6.56,P<0.001],第3次再灌注组低于第3次缺血组[(0.567±0.031),(0.712±0.038)pmol/g,t=7.24,P<0.001]。②环磷酸腺苷依赖蛋白激酶活性:第1次再灌注组低于第1次缺血组[(10.115±1.000),(16.351±0.849)pkat/g,t=11.12,P<0.001],第2次再灌注组低于第2次缺血组[(11.877±2.213),(14.869±0.619)pkat/g,t=3.31,P<0.01],第3次再灌注组低于第3次缺血组[(11.745±0.987),(14.766±0.329)pkat/g,t=7.09,P<0.001]。③缺血预处理程序中心肌环磷酸腺苷含量及环磷酸腺苷依赖蛋白激酶活性随缺血及再灌注呈周期性波动。在5min缺血预处理时表现为明显增高,而在间隔的再灌注程序中恰呈相反改变,有明显下降的趋势。结论:环磷酸腺苷及环磷酸腺苷依赖蛋白激酶的周期性波动变化可能是激发心肌缺血预处理的机制之一,环磷酸腺苷可能在预处理保护作用中起一些作用。 相似文献
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Exchange transfusion in neutropenic septicemic neonates: effect on granulocyte functions 总被引:1,自引:0,他引:1
NB Mathur BKM Subramanian VK Sharma RK Puri 《Acta paediatrica (Oslo, Norway : 1992)》1993,82(12):939-943
Depletion neutropenia caused by overwhelming bacterial infection is associated with fatal outcome and is an objective indicator of the severity of sepsis. Studies on controlled evaluation of exchange transfusion in the management of severe neonatal sepsis have not considered neutropenia as an inclusion critcrion, and randomized, controlled trials on evaluation of ncutrophil functions after exchange transfusion are scarce. This prompted us to carry out the present study. Septicemic neonates were enrolled if they had neutropenia and were randomized to undergo exchange transfusion (study group, n = 20) or not (controls, n= 10). Granulocyte functions were assessed using the nitro blue tetrazolium (NBT) reduction test and the staphylococcicidal index. Blood was drawn for granulocyte function tests once from controls and donors, and before, immediately after and 6 h after exchange transfusion in the study group. Mortality was 35% in the study group and 70% in controls. Gram-negative organisms accounted for 80%, in the study group and 90% in controls. Mean total leukocyte count and neutrophil count increased significantly immediately after exchange transfusion and 6 h later. Absolute band count decreased significantly immediately after exchange transfusion and incrcased 6 h later. NBT reduction in septicemic neonates in the study group, as wclras in controls. was significantly decreascd as compared to donor cells. NBT reduction improved significantly immediately after exchange transfusion and 6 h later. The valucs of the perccntage of viable staphylococci recovered from neutrophils also improved significantly immediately after exchange transfusion and 6 h later. We conclude that exchange transfusion with fresh whole blood in severe neonatal septicemia with neutropenia improves survival, increases the neutrophil count and cnhances neutrophil function. 相似文献
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