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Unusual presentation of Loeys-Dietz syndrome:A case report of clinical findings and treatment challenges

World Journal of Clinical Cases 2022年第33期10卷 12247-12256页

作者： shely azrad-daniel Corina Cupa-Galvan Sion Farca-Soffer Fernando Perez-Zincer Maria Elena Lopez-Acosta Department of Internal Medicine Hospital Angeles LomasHuixquilucan 52763Mexico Department of Radiology Hospital Angeles LomasMexico 52763Mexico Department of Hematology Hospital Angeles LomasMexico 52763Mexico Department of Gastroenterology-Endoscopy Hospital Angeles LomasMexico 52763Mexico

BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic *** was recently described in 2005,and today at least six different subtypes have been *** presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any *** differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection *** SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal *** tomography revealed vascular tortuosity in almost every abdominal *** This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these *** diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.

关键词： Loeys-Dietz syndrome Pulmonary embolism Gastrointestinal bleeding Rare genetic disease Therapeutic angiography Unusual presentation Rare disease Case report

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Vascular Calcification： Current Genetics Underlying This Complex Phenomenon

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Chinese Medical Journal 2017年第9期130卷 1113-1121页

作者： Nonanzit Perez-Hernandez Gad Aptilon-Duque Ruben Blachman-Braun Gilberto Vargas-Alarcon Adrian Asael Rodriguez-Cortes shely azrad-Daniez Rosalinda Posadas-Sanchez Jose Manuel Rodriguez-Perez Department of Molecular Biology National Institute of Cardiology "lgnacio Chavez" Mexico Mexico City 14080 Mexico 2Department of Endocrinology National Institute of Cardiology "Ignacio Chavez" Mexico Mexico City 14080 Mexico

Objective： Vascular calcification is the consequence of the complex interaction between genetic, environmental, and vascular factors, which ultimately lead to the deposition of calcium in the tunica intima （atherosclerotic calcification） or tunica media （M6nckenberg＇s sclerosis）. Vascular calcification is also closely related to other pathologies, such as diabetes mellitus, dyslipidemia, and chronic kidney disease. It has been concluded that the degree of vascular calcification may vary from person to person, even if the associated pathologies and environmental factors are the same. Therefore, this suggests an important genetic contribution to the development of vascular calcification. This review aimed to find the most recent evidence about vascular calcification pathophysiology regarding the genetic aspects and molecular pathways. Data Sources： We conducted an exhaustive search in Scopus, EBSCO, and PubMed with the keywords ＂genetics and vascular calcification＂, ＂molecular pathways, genetic and vascular calcification＂ and included the main articles from January 1995 up to August 2016. We focused on the most recent evidence about vascular calcification pathophysiology regarding the genetic aspects and molecular pathways. Study Selection： The most valuable published original and review articles related to our objective were selected. Results： Vascular calcification is a multifactorial disease; thus, its pathophysiology cannot be explained by a single specific factor, rather than by the result of the association of several genetic variants, molecular pathway interactions, and environmental factors that promote its development. Conclusion： Although several molecular aspects of this mechanism have been elucidated, there is still a need for a better understanding of the factors that predispose to this disease.

关键词： Atherosclerosis Cardiovascular Risk Genetics Polymorphisms Vascular Calcification

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Single versus Dual Antiplatelet Therapy after CABG Surgery

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Open Journal of Thoracic Surgery 2013年第4期3卷 135-139页

作者： Ryan N. shely Gregory S. King Marintha R. Short Department of Pharmacy Services Saint Joseph Hospital Lexington USA.

Background: The optimal antiplatelet therapy regimen in the early post-operative CABG period is not well researched. Several studies have proven that use of clopidogrel and aspirin prior to surgery increases bleed risks, but very few studies have examined this therapy post-operatively. Due to the limited amount of data surrounding this topic, the goal of this study was to determine if single or dual antiplatelet therapy had better outcomes in those status-post CABG surgery. Methods: This was a retrospective, single center, cohort study performed at Saint Joseph Hospital in Lexington, Kentucky. Data was reviewed through the Society of Thoracic Surgeons (STS) database, pharmacy medication dispensing records, as well as manual chart review. The primary composite endpoint of the study consisted of in-hospital mortality, ischemic or thrombotic events, bleeding events, restenosis rates, and 30-day readmission rates. Results: The number of events with regard to the primary composite endpoint was 32 events with combination therapy and 39 events with aspirin monotherapy (p = 0.39). A greater decrease in hemoglobin and hematocrit was seen in the aspirin monotherapy group (p = 0.02 and p = 0.047). Patients with prior CVA or TIA were more commonly placed on combination therapy after surgery (p = 0.018). There were no differences in outcomes when type of antiplatelet therapy and type of CABG were analyzed. Conclusions: There was no difference seen between single versus dual antiplatelet therapy regarding the primary composite endpoint. There was an increase in bleeding events with aspirin monotherapy as defined by TIMI criteria as well as a statistically significant decrease in Hgb and HCT with aspirin monotherapy. Patients with previous CVA/TIA were more likely to receive combination therapy. The average number of vessels grafted per surgery was lower in the off-pump surgery cohort.

关键词： Coronary Artery Bypass Graft Surgery CABG Aspirin Clopidogrel Antiplatelet Therapy

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