Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS

In conclusion, we have confirmed in our cohort of patients, the strong association between FHR1 deficiency and aHUS with anti-FH autoantibodies. Through an innovative approach based on the comparison with “supercontrols” carrying the homozygous CFHR1 deletion, identified by screening a large number of healthy adult subjects, we have documented that patients with anti-FHs aHUS are enriched in complement gene LPVs. This observation indicates that the pathogenesis of anti-FHs aHUS is complex and multiple “hits” are required for its clinical manifestation. We also document that the CFH H3 and the CD46GGAAC haplotypes are not associated with anti-FHs aHUS, whereas these haplotypes are enriched in aHUS patients without anti-FHs, which highlights the differences in the genetic basis of the two forms of the disease. Finally, we confirm the role of common infections as environmental factors that contribute to the development of anti-FHs aHUS in genetically predisposed individuals. The latter finding fits with the sharp peak of disease onset during scholar-age. Further studies are needed to fully elucidate the genetic and environmental factors underlying anti-FHs aHUS and to establish whether the combination of anti-FHs with LPVs or other risk factors influences the course of the disease and the response to therapies. Ethics Statement All subjects provided informed written consent in accordance with the Declaration of Helsinki. The study was approved by the Et...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

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Conclusion: Surgical treatment of left ventricular reconstruction in candidates for heart transplantation is effective, efficient, and safe, providing adequate survival.
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract Objective: The main goal of our study was to assess the impact of vascular procedures on the activity of hemostatic and fibrinolytic pathways. Methods: We enrolled 38 patients with ≥ 45 years old undergoing surgery for abdominal aortic aneurysm or peripheral artery disease under general or regional anesthesia and who were hospitalized at least one night after the procedure. Patients undergoing carotid artery surgery and those who had acute bypass graft thrombosis, cancer, renal failure defined as estimated glomerular filtration rate
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract Acute kidney injury (AKI) is a common and severe complication after cardiac surgery. Currently, a series of novel biomarkers have favored the assessment of AKI after cardiac surgery in addition to the conventional indicators. The biomartkers, such as urinary liver fatty acid binding protein (L-FABP), urinary neutrophil gelatinase-associated lipocalin (NGAL), serum L-FABP, heart-type FABP, kidney injury molecule 1 (KIM-1), and interleukin-18 were found to be significantly higher in patients who developed AKI after cardiac surgery than those who did not. Apart from urinary interleukin-18, the novel biomarkers have b...
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor ...
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor ...
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor ...
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor ...
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor ...
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Abstract We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor ...
Source: Revista Brasileira de Cirurgia Cardiovascular - Category: Cardiovascular & Thoracic Surgery Source Type: research
Authors: Kant R, Khapre M, Singh A PMID: 31325284 [PubMed - in process]
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
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