Search results for "ORAC"
showing 10 items of 1142 documents
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…
2016
International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…
Cardiovascular disease in aging: an overview on thoracic aortic aneurysm as an emerging inflammatory disease
2017
Medial degeneration associated with thoracic aortic aneurysm and acute aortic dissection was originally described by Erdheim as a noninflammatory lesion related to the loss of smooth muscle cells and elastic fibre fragmentation in the media. Recent evidences propose the strong role of a chronic immune/inflammatory process in aneurysm evocation and progression. The coexistence of inflammatory cells with markers of apoptotic vascular cell death in the media of ascending aorta with aneurysms and type A dissections raises the possibility that activated T cells and macrophages may contribute to the elimination of smooth muscle cells and degradation of the matrix. On the other hand, several infla…
First-in-Human Percutaneous Circumferential Annuloplasty for Secondary Tricuspid Regurgitation
2020
Transcatheter therapies to treat tricuspid regurgitation are being developed, but few have attempted the gold standard of surgical repair: ring annuloplasty. We describe the first-ever fully percutaneous implantation of a circumferential, semirigid annuloplasty ring to treat massive secondary tricuspid regurgitation. (Level of Difficulty: Advanced.)
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role…
2018
The causes of embryological developmental anomalies leading to laryngotracheoesophageal clefts (LTECs) are not known, but are proposed to be multifactorial, including genetic and environmental factors. Haploinsufficiency of the RERE gene might contribute to different phenotypes seen in individuals with 1p36 deletions. We describe a neonate of an obese mother, diagnosed with type IV LTEC and type III esophageal atresia (EA), in which a 1p36 deletion including the RERE gene was detected. On the second day of life, a right thoracotomy and extrapleural esophagus atresia repair were attempted. One week later, a right cervical approach was performed to separate the cervical esophagus from the tra…
Association between ribs shape and pulmonary function in patients with Osteogenesis Imperfecta
2019
Graphical abstract
Calcified Spinal Meningioma: A Lurking Danger
2017
Tumors of the spine with an intradural location have an incidence ranging from 3 to 10 per 100,000 persons per year, and intradural extramedullary tumors account for two thirds of all intraspinal neoplasms. Among these, spinal meningiomas account for 25%–46% of all spinal cord tumors. They develop from the arachnoid cells that differentiate from neural crest cells and, like cerebral meningioma, they have a slow-growing behavior. Although spinal meningiomas are not uncommon, calcified spinal meningioma is rare in spinal location. Calcified meningioma manifests with extensive matrix and tends to infiltrate the surrounding structures. It exhibits a growth pattern limited by an incompletely dev…
Impact of COVID-19 on the self-reported physical activity of people with complete thoracic spinal cord injury full-time manual wheelchair users
2021
Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Activitat física; Lesió medul·lar Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Actividad física; Lesión de la médula espinal Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Physical activity; Spinal cord injury Context The emergence of COVID-19 caused a new public health crisis, leading to major changes in daily life routines, often including physical activity (PA) levels. The main goal of this study was to analyze the differences in self-reported physical activity of people with complete spinal cord injuries between the time prior to the COVID-19 lockdown and the lockdown period itself. Methods A sample of 20 participants with complete thoracic spi…
Guía para la incorporación de la perspectiva de género en la docencia en Sociología, Economía y Ciencias Políticas
2019
Sociology has constructed a male worldview that entails a biased interpretation of social reality. For its part, the traditional economy has made invisible the dependence of the commercial sphere of the domestic sphere. And in the field of political science, we also find many gender biases in basic concepts such as justice, equality or citizenship. This article, based on the work done by the authors in the Guia per a una docència universitària amb perspectiva de gènere de Sociologia, Economia i Ciència Política, offers some proposals, teaching resources and consultation tools to introduce the gender perspective in teaching, knowledge transfer and research in these disciplines.
LAS TUMORACIONES CUTÁNEAS Y SU TRATAMIENTO
1995
Conducta médica frente a las tumoraciones cutáneas de la cara, y cuatro procedimientos quirúrgicos.
Medición de la tensión arterial: método auscultatorio
2010
A través de este método se mide la tensión arterial a partir de la ausculatción distal a la arteria comprimida por el esfigmomanómetro (con frecuencia la arteria humeral o braquial).