Pericardial NT-Pro-BNP and GDF-15 as Biomarkers of Atrial Fibrillation and Atrial Matrix Remodeling in Aortic Stenosis

Aims: This study aimed to evaluate the association of GDF-15 and NT-pro-BNP in two different biological matrices with AF in severe aortic stenosis patients undergoing aortic valve replacement surgery (AVR), its association with atrial matrix remodeling, as well as with 30-day postoperative outcomes. Main Methods: One hundred and twenty-six patients between 2009 and 2019 with severe aortic stenosis undergoing AVR surgery in a tertiary hospital were assessed. Key Findings: pericardial fluid GDF-15 and pericardial fluid and serum NT-pro-BNP were increased in AF patients with aortic stenosis. COL1A1 and COL3A1 gene expression increased when pericardial fluid NT-pro-BNP values were higher. TIMP4 was positively correlated with pericardial fluid GDF-15. Significance: GDF-15 and NT-pro-BNP in the pericardial fluid are biomarkers of atrial fibrillation in aortic stenosis and correlate with atrial matrix remodeling. AKI is predicted by both serum and pericardial fluid GDF-15.

Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

The role of collagen protein genes in the development of pelvic floor dysfunction in women

Коллагеновые волокна играют существенную роль в формировании связочного аппарата тазового дна. Однако, проведенные ранее исследования не дают точного ответа о роли полиморфных вариантов генов коллагена в дисфункции тазового дна. Целью настоящего исследования было определить ассоциацию однонуклеотидных полиморфизмов rs1800012 гена COL1A1, rs1800255 и rs1801184 гена COL3A1, rs2236479 гена COL18A1 и их сочетаний c пролапсом тазовых органов (ПТО) и стрессовым недержанием мочи (НМ). Группу исследования составили 150 пациенток с ПТО и/или НМ. В группу контроля вошли 100 пациенток без тазовой дисфункции. Пациентки были сопоставимы по возрасту и внешним факторам риска. Ассоциаций между полиморфизмами rs1800012 гена COL1A1, rs1800255 и rs1801184 гена COL3A1, rs2236479 гена COL18A1 и тазовой дисфункцией выявлено не было. Collagen fibers play a significant role in the formation of the ligamentous apparatus of the pelvic floor. However, previous studies do not give an exact answer about the role of polymorphic variants of collagen genes on pelvic floor dysfunction. The aim of this study was to determine the association of single nucleotide polymorphisms rs1800012 of the COL1A1 gene, rs1800255 and rs1801184 of the COL3A1 gene, rs2236479 of the COL18A1 gene and their combinations with pelvic organ prolapse (POP) and stress urinary incontinence (SUI). The study group consisted of 150 patients with POP and/or SUI. The control group included 100 patients without pelvic dysfunction. Patients were comparable in age and external risk factors.All patients received a buccal epithelium for analysis. Sequencing was carried out by the Sanger method. Association between the rs1800012 polymorphisms of the COL1A1 gene, rs1800255 and rs1801184 of the COL3A1 gene, rs2236479 of the COL18A1 gene and pelvic dysfunction were not detected.