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Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the αIIbβ3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21-23. Although platelet count and platelet volume (and morphology) are normal in classic(More)
Characterized by mucocutaneous bleeding arising from a lack of platelet aggregation to physiologic stimuli, Glanzmann thrombasthenia (GT) is the archetype-inherited disorder of platelets. Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, αIIbβ3, an integrin coded by the(More)
Treatment of the bleeding syndrome in Glanzmann thrombasthenia (GT) is often complicated by naturally occurring isoantibodies directed against the αIIbβ3 integrin that cause the removal of or render ineffective transfused donor platelets. Such antibodies are produced after transfusion or pregnancy when the patient's immune system comes into contact with(More)
OBJECTIVES The aim of this study was to assess and validate 2-dimensional (2D) strain for the detection of ischemia during dobutamine stress echocardiography (DSE). BACKGROUND Evaluation of abnormalities of left ventricular (LV) function from wall thickening during DSE is unsatisfactory and requires a high level of expertise. METHODS In 10 open-chest(More)
Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput sequencing using cluster analyses based on improved and standardised deep, multi-system phenotyping of cases. We report a new approach in which the clinical and(More)
BACKGROUND The aim of this study was to evaluate the capacity and reproducibility of three-dimensional echocardiographic (3DE) strain parameters in the assessment of global left ventricular (LV) systolic function. METHODS A total of 128 subjects with differing LV ejection fractions were investigated using two-dimensional echocardiographic (2DE) and 3DE(More)
mRNA of the P2u purinoceptor (or nucleotide receptor) is detected both by polymerase chain reaction or Northern blot analyses in cultured aortic smooth muscle cells. When added to the culture medium of these cells, UTP, a specific ligand of the P2u receptor, induces an increased expression of both immediate-early and delayed-early cell cycle-dependent(More)
The nature of an inherited platelet disorder was investigated in three siblings affected by severe bleeding. Using whole-exome sequencing, we identified the culprit mutation (cG742T) in the RAS guanyl-releasing protein-2 (RASGRP2) gene coding for calcium- and DAG-regulated guanine exchange factor-1 (CalDAG-GEFI). Platelets from individuals carrying the(More)
OBJECTIVES This study was designed to analyze the results of fibrinolytic treatment (FT) in a large single-center group of patients with prosthetic heart valve thrombosis (PHVT). BACKGROUND Fibrinolytic treatment of PHVT represents an alternative to surgery, but is still controversial because of the risk of embolism. METHODS A total of 110 consecutive(More)
BACKGROUND Isolated atrial fibrillation (AF) is associated with mild enlargement of the left atrium (LA) and left ventricular (LV) diastolic dysfunction. The impact of ablation of isolated AF on left chamber size and function is unclear, and whether diastolic dysfunction is the cause or the consequence of AF remains unknown. The objective of this(More)