Background: Behçet's disease is an inflammatory condition, caused by vasculitis of big and small veins and arteries in which, although vascular inflammation is the basis of disease, cardiac involvement is rare. We present a rare case of a man, affected by Behçet's disease, with pulmonary embolism due to a floating thrombus in the right ventricle.
Case Summary: We report a case of a 36-year-old man admitted to emergency department due to dyspnoea and haemoptysis. He had already been diagnosed with Behçet's disease, and he was in therapy with low doses of azathioprine and prednisone from three months. Thorax CT scan detected pulmonary embolism with pulmonary infraction. No evidence of deep vein thrombosis was found. The echocardiogram pointed out a floating mass of at least 30 mm in the right ventricle. Cardiac magnetic resonance confirmed the diagnosis of right ventricle thrombosis. On the hypothesis of an inflammatory genesis of the thrombosis, immunosuppressive drugs and anticoagulation with vitamin K antagonist were prescribed. The patient underwent echocardiograms every 3 weeks, and the mass disappeared 5 months later.
Discussion: Behçet's disease is a systemic inflammatory disorder that often affects vessels and rarely the heart. Thrombosis can be the only clinical feature of primary or relapsing events with also atypical origin site. Thrombosis suggests a high inflammatory status that needs to be balanced with the right immunosuppressive therapy, associated to anticoagulation.
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http://dx.doi.org/10.1093/ehjcr/ytae467 | DOI Listing |
Alzheimers Dement
December 2024
GSK R&D, Stevenage, Hertfordshire, United Kingdom.
Background: Genetic variants in GRN, the gene encoding progranulin, are causal for or are associated with the risk of multiple neurodegenerative diseases. Modulating progranulin has been considered as a therapeutic strategy for neurodegenerative diseases including Frontotemporal Dementia (FTD) and Alzheimer's Disease (AD). Here, we integrated genetics with proteomic data to determine the causal human evidence for the therapeutic benefit of modulating progranulin in AD.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of North Carolina Gillings School of Global Public Health, Chapel Hill, NC, USA.
Background: Pharmacoepidemiologic studies assessing drug effectiveness for Alzheimer's disease and related dementias (ADRD) are increasingly popular given the critical need for effective therapies for ADRD. To meet the urgent need for robust dementia ascertainment from real-world data, we aimed to develop a novel algorithm for identifying incident and prevalent dementia in claims.
Method: We developed algorithm candidates by different timing/frequency of dementia diagnosis/treatment to identify dementia from inpatient/outpatient/prescription claims for 6,515 and 3,997 participants from Visits 5 (2011-2013; mean age 75.
Background: The autophagy lysosomal pathway (ALP) and the ubiquitin-proteasome system (UPS) are key proteostasis mechanisms in cells, which are dysfunctional in AD and linked to protein aggregation and neuronal death. Autophagy is over activated in Alzheimer's disease brain whereas UPS is severely impaired. Activating autophagy has received most attention, however recent evidence suggests that UPS can clear aggregate proteins and a potential therapeutic target for AD and protein misfolding diseases.
View Article and Find Full Text PDFBackground: Availability of amyloid modifying therapies will dramatically increase the need for disclosure of Alzheimer's disease (AD) related genetic and/or biomarker test results. The 21st Century Cares Act requires the immediate return of most medical test results, including AD biomarkers. A shortage of genetic counselors and dementia specialists already exists, thus driving the need for scalable methods to responsibly communicate test results.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of Kentucky Sanders-Brown Center on Aging, Lexington, KY, USA.
Background: The presence of multiple comorbid pathologic features in late-onset dementia has been well documented across cohort studies that incorporate autopsy evaluation. It is likely that such mixed pathology potentially confounds the results of interventional trials that are designed to target a solitary pathophysiologic mechanism in Alzheimer's disease and related dementias (ADRD).
Method: The UK ADRC autopsy database was screened for participants who had previously engaged in therapeutic interventional trials for Alzheimer's disease, vascular cognitive impairment, dementia, and/or ADRD prevention trials from 2005 to the present.
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