Publications by authors named "P Gourzi"
Objective: Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and potentially fatal disease caused by the accumulation of insoluble transthyretin (TTR) amyloid fibrils in the heart. The symptoms of ATTR-CA are often non-specific, often leading to underdiagnosis. Early diagnosis and treatment have a significant impact on disease progression and mortality.
View Article and Find Full Text PDFSolid organ transplant (SOT) recipients have a higher risk of suffering from severe Coronavirus (COVID-19) compared to the general population. Studies have shown impaired immunogenicity of mRNA vaccines in this high-risk population; thus, SOT recipients have been prioritized globally for primary and booster doses. We analyzed 144 SOT recipients who had previously received two doses of BNT162b2 or mRNA1273 vaccine, and who were subsequently vaccinated with a booster dose of the mRNA1273 vaccine.
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- Homozygous truncating mutations in the desmoplakin gene (DSP) can lead to Carvajal syndrome, which is linked to heart issues and skin symptoms.
- A case study details a 13-year-old girl with severe heart problems caused by a new DSP mutation, but she did not show typical skin symptoms; her brother died from similar heart issues at 18.
- The findings suggest the extreme C-terminal region of the desmoplakin protein plays a crucial role in its function, highlighting its importance in heart health.
Chronic kidney disease patients, especially those on hemodialysis, are at the highest risk of a severe course and death from COVID-19. Moreover, they appear to have suboptimal response in both cellular and humoral immunity after vaccination. The present study investigated humoral and cellular response and safety after two doses of either of the two authorized mRNA vaccines in a cohort of 310 patients on maintenance dialysis.
View Article and Find Full Text PDFGene mutations in RBM20 have been identified in a minority of familial and sporadic dilated cardiomyopathy cases. Recent studies of carriers of RBM20 mutations not only highlight the aforementioned association with dilated cardiomyopathy but also indicate a link with increased incidence of ventricular arrhythmias. Herein we describe a case of 17-year-old female patient with dilated cardiomyopathy carrying a p.
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