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世界核心医学期刊文摘（儿科学分册） 2005年第8期1卷 26-27页

作者： Shooner K.A. rope A.F. hopkin r.j. D.W. Benson 虎小毅 Cardiology ML 70 42 Children's Hospital Medical Center 3333 Burnet Ave Cincinnati OH 45229 - 3039 United States Dr.

Objectives: Cardiovascular malformations (CVMs) are reported to be common (～ 75% ) in patients with deletion 22q11.2 (del22q11) syndrome. To better underst and why deletions go unrecognized, we characterized the phenotype in deleted ind ividuals in two large kindreds with particular emphasis on the presence or absen ce of CVM. Study design: After the diagnosis of del22q11 in two unrelated proban ds with CVM, we sequentially evaluated family members with clinical evaluation a nd cytogenetic analysis. results: Del22q11 was identified in 13 individuals; all exhibited characteristic dysmorphic facial features, but a CVM was present in o nly 6 of 13 (46% ) individuals. Conclusions: We speculate that in the absence o f CVM, diagnosis of del22q11 is hampered by a failure to recognize extracardiac features of the del22q11 syndrome spectrum. The data highlight the need for prim ary care physicians and specialists to familiarize themselves with the extracard iac stigmata of del22q11 to ensure timely diagnosis in all family members.

关键词：家族遗传 q11 染色体缺失遗传学分析先证者表型特征接诊医师心血管畸形同质异形临床评估

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Inter-ethnic marriages and severity of coronary artery disease:A multicenter study of Arabian Gulf States

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World journal of Cardiology 2017年第4期9卷 371-377页

作者： Amin Daoulah Salem Al-kaabi Amir Lotfi Mushabab Al-Murayeh S Ali Nasseri Waleed Ahmed Salah N Al-Otaibi Mohamed N Alama Osama E Elkhateeb Amy j Plotkin Majed M Malak Khalid Alshali Mohamed Hamzi Saleh Al Khunein Mohammed Abufayyah Alawi A Alsheikh-Ali Cardiovascular Department King Faisal Specialist Hospital and Research Center Cardiology Department Zayed Military Hospital Division of Cardiology Baystate Medical CenterTufts University School of Medicine Cardiovascular Department Armed Forces Hospital Southern Region Politecnico di Torino Internal Medicine Department King Faisal Specialist Hospital and Research Center Cardiac Anesthesiology King Faisal Specialist Hospital AND Research Center Cardiology Department King Abdul Aziz University Hospital Cardiology Department King Abdullah Medical City in Holy Capital Department of Pathology Johns Hopkin University Internal Medicine Department King Abdul Aziz University Hospital Anesthesia Department Prince Sultan Military Medical City College of Medicine Mohammed Bin Rashid University of Medicine and Health Sciences Institute of Cardiac Sciences Sheikh Khalifa Medical City

AIM To assess the association of inter-ethnic vs intra-ethnic marriage with severity of coronary artery disease(CAD) in men undergoing *** We conducted a prospective multicenter,multi-ethnic,cross sectional observational study at five hospitals in Saudi Arabia and the United Arab Emirates,in which we used logistic regression analysis with and without adjustment for baseline differences. rESULTS Data were collected for 1068 enrolled patients undergoing coronary angiography for clinical indications during the period of April 1^(st),2013 to March 30^(th),2014. Ethnicities of spouses were available only for male patients. Of those enrolled,687 were married men and constituted the cohort for the present analysis. Intra-ethnic marriages were reported in 70% and inter-ethnic marriages in 30%. After adjusting for baseline differences,interethnic marriage was associated with lower odds of having significant CAD [adjusted odds ratio 0.52(95%CI:0.33,0.81)] or multi-vessel disease(MVD) [adjusted odds ratio 0.57(95%CI:0.37,0.86)]. The adjusted association with left main disease showed a similar trend,but was not statistically significant [adjusted odds ratio 0.74(95%CI:0.41,1.32)]. The association between interethnic marriage and the presence of significant CAD and MVD was not modified by number of concurrent wives(P interaction > 0.05 for both).CONCLUSION Among married men undergoing coronary angiography,inter-ethnic,as compared to intra-ethnic,marriage is associated with lower odds of significant CAD and MVD.

关键词： Arabian Gulf Inter-ethnic marriage Coronary artery disease Cardiac epidemiology Coronary angiography

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