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

BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations. It was recently described in 2005, and today at least six different subtypes have been identified. Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities, with specific arterial tortuosity at any site. The differential diagnosis of LDS includes atypical Marfan syndrome, vascular Ehlers-Danlos syndrome, Shprintzen-Goldberg craniosynostosis, and familial aortic aneurysm and dissection syndrome. CASE 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 pain. Computed tomography revealed vascular tortuosity in almost every abdominal vein. CONCLUSION: 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 patients. Differential diagnosis, clinical presentation and treatment options for this syndrome are discussed in this article.

Vascular Calcification: Current Genetics Underlying This Complex Phenomenon.

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 (Mönckenberg'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.

Surgical Skills Training with Cryopreserved Rat Stomachs.

The objective of this study is to present a high-fidelity bench model of cryopreserved stomachs that can be used while learning surgical skills. Thirty stomachs were harvested from Wistar rats at the end of non-abdominal research studies. The stomachs were washed with cold saline solution and filled with hyaluronic acid solution. The organs were then placed into cryovials and cryopreserved at -30 °C for 60 days. The stomachs were thawed to room temperature on the day of the surgical skills practice and two full-thickness incisions were made. Reporting on their experiences, 22 participants (73.33%) felt that the cryopreserved stomach was identical to in vivo rat stomachs, 24 (80.00%) reported that the stomach was easy to handle, and 27 (90%) reported the tissue was non-friable. Moreover, 29 participants (96.6%) finished the suturing without tears and 100% recommended it as a biomaterial for surgical training. The cryopreserved stomach is a practical, reproducible, low-cost, and high-fidelity bench model that allows surgical fellows to learn how to handle a stomach and improve their surgical abilities before performing surgery on patients or laboratory animals.