Effects of FSH on Endothelial Function (FEND)
Change in Flow Mediated DilationPurpose of the study will be to evaluate the effects of the s.c. administration of 300 IU of FSH in 16 healthy males. The endothelial function will be evaluated by the measurement with ecographic approach of the flow mediated dilation (FMD) of the brachial artery. The FMD will be measured before and 6, 12, 24 or 48 hours after FSH or placebo adiministration in the same subjects studied 2 weeks apart. The results will help to clarify whether perturbation of FSH, similar to the one observed in women after the menopause, affect endothelial function.
The Impact of Post Stenting Balloon Dilatation on Coronary Microcirculation in STEMI Patients Undergoing...
ST-elevation Myocardial Infarction (STEMI)This study aims to assess the impact of NC balloon post-dilatation on coronary microcirculation in patients with ST segment elevation myocardial infarction (STEMI) undergoing primary percutaneous coronary intervention (PPCI).
Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic...
New Phenotype (Combining Premature White HairPolycystic Kidney Disease1 moreThis study involves a single family, including 1 patient, father, mother and sister. The patient presented with a new phenotype associating premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia. Samples were taken in order to identify the origin of the symptomatology highlighted in the index case. In addition, it was observed that mice invalidated for bcl-2, normal at birth and indistinguishable from control mice, showed, after one week, a phenotype similar to that observed in this patient. The overlap between the patient's main clinical signs (lymphopenia, white hair and polycystic renal disease) and the manifestations presented by the invalidated murine model for BCL2 suggests that its phenotype may be secondary to a Bcl-2 expression defect.
Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease...
Marfan SyndromePrimary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls). / Frequency of orthostatic headaches / Frequency of low back pain due to orthostasis / Frequency of low back pain during Vasalva maneuvers / Frequency of lumbar claudication / Frequency of root claudication Secondary outcomes are to compare activity limitations, quality of life and intensity of low back and radicular pain between Marfan patients with dural sac ectasia (cases) and those without (controls). / Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) / Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) / Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations) / Physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable ) / Mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)
Thoracic Aortic Dilatation Syndromes
Thoracic Aorta DilatationMarfan SyndromeAortic dilatation syndromes are comprised by a group of different syndromes, of which Marfan syndrome is the best described. Many of the aorta dilatation associated syndromes are heritable connective tissue disorders but some patients do not have any other phenotypical symptoms than aorta dilatation. The genetic variation in thoracic aorta dilatation is still unknown. This study aims on genetic evaluation of patients with thoracic aorta dilatation. Furthermore the study will focus on a registry angel trying to evaluate prevalence, mortality, morbidity and socioeconomically status of Marfan syndrome patients. This part will rely on registry data obtained from unique Danish registries.
Vascular Function, Insulin Sensitivity, and Vitamin D
Insulin SensitivityFlow-mediated Dilation1 moreThe overall objectives of this study are to examine the relationships between circulating vitamin D, insulin sensitivity, and multiple indices of vascular function and to examine whether vitamin D deficiency in African Americans (AA) and White Hispanics (WH) is responsible for ethnic differences in insulin sensitivity and hypertension in AA, WH and European Americans (EA), as well as mechanisms underlying the association between insulin resistance and blood pressure. We hypothesize that 1) serum 25(OH)D is associated with insulin sensitivity and vascular functioning, independent of adiposity, 2) lower insulin sensitivity and vascular functioning in AA and WH relative to EA is due to lower circulating 25(OH)D in AA, and 3) the relationship between insulin resistance and vascular dysfunction is mediated by 25(OH)D. Acronyms: African American (AA), European American (EA), White Hispanics (WH), Serum 25-hydroxy vitamin D (25()H)D, Body mass index (BMI), Alabama (AL).
Whole Exome Sequencing in Coronary Artery Ectasia
Coronary EctasiaCoronary AneurysmThe goal of this observational study is to assess the role of the whole exome sequencing (WES) application in patients with giant coronary artery ectasia (CAE) with a high-risk of genetic background. The main question it aims to answer are: the assessment of role of WES in CAE the detection of novel pathogenic mutations associated with CAE development
Vitamin D, Insulin Sensitivity, and Vascular Associations in Adolescents
Insulin SensitivityFlow-mediated Dilation1 moreThe overall objectives of this study are to examine the relationships between circulating vitamin D, insulin sensitivity, and multiple indices of vascular function and to examine whether vitamin D deficiency in AA is responsible for ethnic differences in insulin sensitivity and hypertension in AA and EA, as well as mechanisms underlying the association between insulin resistance and blood pressure. We hypothesize that 1) serum 25(OH)D is associated with insulin sensitivity and vascular functioning, independent of adiposity, 2) lower insulin sensitivity and vascular functioning in AA relative to EA is due to lower circulating 25(OH)D in AA, and 3) the relationship between insulin resistance and vascular dysfunction is mediated by 25(OH)D. Acronyms: African American (AA), European American (EA), Serum 25-hydroxy vitamin D (25()H)D, Body mass index (BMI), Alabama (AL).
Intrastromal Corneal Ring for Ectasia After Refractive Surgery (Anel)
EctasiaTo evaluate the clinical outcomes of intrastromal corneal ring segment (ICRS) implantation to correct keratoconus on eyes with prior refractive surgery.
Smoking Cessation in a Cohort HIV+ Rio de Janeiro, Brazil.
Smoking CessationBrachial Flow Mediated Dilatation1 moreThe study was carried out within a large, urban prospective cohort of PLHIV at the Instituto Nacional de Infectologia Evandro Chagas (INI). Located in Rio de Janeiro, Brazil, INI is a national public referral center for PLWHA receiving primary care since 1998. From December 2019, adults who had attitudes toward quitting smoking and had no contraindications to study pharmacotherapy were enrolled by active site searching