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Blanton RE Salam EA Ehsan A King CH Goddard KA 《European journal of human genetics : EJHG》2005,13(5):660-668
A minority of individuals infected with the parasite Schistosoma mansoni develops hepatic fibrosis. HLA studies in Egypt and a candidate gene search in a Sudanese population indicate that the host's genetics contribute to disease susceptibility. In an Egyptian community, 32.7% of individuals 11 years and older had significant fibrosis by WHO ultrasound criteria. Linkage to 10 candidate genes was tested using 89 affected sibling pairs from 40 pedigrees in this community. The candidates included genes that initiate fibrosis, participate in collagen synthesis, or control collagen degradation. Two to four single-nucleotide polymorphisms (SNPs) were genotyped per locus, and 188 individuals were genotyped at 48 markers. Model-free modified Haseman-Elston analysis identified linkage to a SNP in the interferon gamma receptor locus (P=0.000001). There was also weak evidence for linkage to the interleukin 13-4 region and tissue growth factor beta 1. 相似文献
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Surana SP Doddamani S Swaminathan A Mehta MB Zeltser R Vatsia SK Makaryus AN 《Echocardiography (Mount Kisco, N.Y.)》2012,29(4):E102-E104
Approximately 1% of adults who undergo cardiac catheterization have coronary anomalies. Patients may present with chest pain, arrhythmias, presyncope, and sometimes sudden cardiac death. Multidetector computed tomography (MDCT) is an excellent tool for identifying coronary artery anomalies and defining their course and relationship to the great vessels and surrounding structures; its value is incremental to conventional angiography. We present a rare case of a coronary anomaly involving three separate ostia at the right sinus of Valsalva for the left and right coronary vessels. 相似文献
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Amgad N. Makaryus MD Smadar Kort MD David Rosman MD Sheel Vatsia MD Judy R. Mangion MD FACC FASE 《Journal of the American Society of Echocardiography》2003,16(12):1322-1325
We report the case of a 74-year-old woman with a history of hypertension, hypercholesterolemia, and pacemaker who presented to the hospital with new onset New York Heart Association class IV congestive heart failure. Transthoracic echocardiography revealed a markedly dilated right ventricle with normal right ventricular systolic function. There was moderate pulmonary hypertension with an estimated pulmonary artery systolic pressure of 60 mm Hg. Her echocardiogram 1 year earlier had demonstrated normal right ventricular size and systolic function, and no pulmonary hypertension. Additional transthoracic imaging with saline contrast study through a left peripheral vein demonstrated the presence of a dilated coronary sinus with a persistent left superior vena cava. Color Doppler demonstrated turbulent flow within the coronary sinus with evidence of significant left-to-right shunting. Cardiac catheterization revealed a massively dilated left main coronary artery aneurysm with an arteriovenous fistula into the left superior vena cava and coronary sinus. The calculated Qp/Qs was 2:1. The patient underwent 2 unsuccessful attempts at percutaneous intervention to occlude the arteriovenous fistula. She then underwent successful surgical closure of the coronary arteriovenous fistula. The important role of intraoperative transesophageal echocardiography in guiding this technically challenging surgical case is discussed. 相似文献
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Eman Maher Zahran Ahmed M. Sayed Miada F. Abdelwahab Amgad Albohy Basma S. Abdulrazik Ayman M. Ibrahim Gerhard Bringmann Usama Ramadan Abdelmohsen 《RSC advances》2021,11(57):36042
Cerebrosides are a group of metabolites belonging to the glycosphingolipids class of natural products. So far, 167 cerebrosides, compounds 1–167, have been isolated from diverse marine organisms or microorganisms. The as yet smaller number of compounds that have been studied more in depth proves a potential against challenging diseases, such as cancer, a range of viral and bacterial diseases, as well as inflammation. This review provides a comprehensive summary on this so far under-explored class of compounds, their chemical structures, bioactivities, and their marine sources, with a full coverage to the end of 2020. Today, the global pandemic concern, COVID-19, has claimed millions of death cases around the world, making the development of anti-SARS-CoV-2 drugs urgently needed for such a battle. Accordingly, selected examples from all subclasses of cerebrosides were virtually screened for potential inhibition of SARS-CoV-2 proteins that are crucially involved in the viral–host interaction, viral replication, or in disease progression. The results highlight five cerebrosides that could preferentially bind to the hACE2 protein, with binding scores between −7.1 and −7.6 kcal mol−1 and with the docking poses determined underneath the first α1-helix of the protein. Moreover, the molecular interaction determined by molecular dynamic (MD) simulation revealed that renieroside C1 (60) is more conveniently involved in key hydrophobic interactions with the best stability, least deviation, least ΔG (−6.9 kcal mol−1) and an RMSD value of 3.6 Å. Thus, the structural insights assure better binding affinity and favorable molecular interaction of renieroside C1 (60) towards the hACE2 protein, which plays a crucial role in the biology and pathogenesis of SARS-CoV-2.Cerebrosides are a group of metabolites belonging to the glycosphingolipids class of natural products. 相似文献