Publications by authors named "Degiannis D"

Article Synopsis
  • 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.
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Several lines of evidence suggest that binding SARS-CoV-2 antibodies such as anti-SARS-CoV-2 RBD IgG (anti-RBD) and neutralising antibodies (NA) are correlates of protection against SARS-CoV-2, and the correlation of anti-RBD and NA is very high. The effectiveness (VE) of BNT162b2 in preventing SARS-CoV-2 infection wanes over time, and this reduction is mainly associated with waning immunity, suggesting that the kinetics of antibodies reduction might be of interest to predict VE. In a study of 97 health care workers (HCWs) vaccinated with the BNT162b2 vaccine, we assessed the kinetics of anti-RBD 30-250 days after vaccination using 388 individually matched plasma samples.

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Due to their higher risk of developing life-threatening COVID-19 disease, solid organ transplant (SOT) recipients have been prioritized in the vaccination programs of many countries. However, there is increasing evidence of reduced immunogenicity to SARS-CοV-2 vaccination. The present study investigated humoral response, safety, and effectiveness after the two mRNA vaccines in 455 SOT recipients.

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Ventricular assist devices (VADs) have been associated with the development of anti-HLA antibodies ('allosensitization'), but data on devices providing biventricular support in adults are limited. We sought to characterize differences in anti-HLA antibody formation in adult patients receiving left- (LVAD) versus biventricular- (BiVAD) assist devices as bridge to transplantation (BTT) by retrospectively reviewing the records of adult patients who have undergone VAD implantation at our institution. We assessed 82 patients supported with a pulsatile-flow paracorporeal BiVAD and compared them with 40 patients receiving LVAD till 2018.

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BNT162b2 has proven to be highly effective, but there is a paucity of data regarding immunogenicity factors and comparison between response to vaccination and natural infection. This study included 871 vaccinated healthcare workers (HCW) and 181 patients with natural infection. Immunogenicity was assessed by measuring anti-SARS-CoV-2 against the RBD domain of the spike protein (anti-RBD).

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Gene 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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Article Synopsis
  • Mutations in the KCNE2 gene are linked to serious heart conditions like atrial fibrillation, long QT syndrome, and Brugada syndrome, as well as sudden cardiac death.
  • The case discussed involves a patient with Brugada syndrome who has a specific variant in the KCNE2 gene, identified as NM_172201.2:c.161 T > C, leading to a change in the protein.
  • The increased activity (gain of function) of the Ito current is suggested as a reason for the characteristic Brugada ECG appearance in this patient.
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Catecholaminergic polymorphic ventricular tachycardia (CPVT) and Long-QT syndrome (LQTS) are two distinct entities with similar clinical presentation and management but different clinical course. In this study, we present two family members presented with aborted sudden cardiac death (SCD) that was attributed to CPVT. The CPVT may be underrecognized in SCD victims and a diagnosis of "atypical LQTS" may warrant consideration of CPVT and analysis of RyR2 if the standard cardiac channel gene screen for LQTS is negative.

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Vitamin-K antagonists (VKAs) have remained the mainstay of oral anticoagulant therapy for the treatment and prevention of thromboembolism. The management of treatment with VKAs is challenging due to their narrow therapeutic index and the wide interindividual variation in response to therapy. Variants of the and the gene account for 30-50% of the variability in dosing requirements, and it has been proposed that genotyping of these loci could facilitate management of VKA therapy and minimize risk of overanticoagulation, even in very low doses.

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Background: Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.

Case Presentation: Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutation: NM_000363.4:c.

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Objective: We present the genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM).

Methods: The proband and his relatives underwent full cardiological assessment. Genetic analysis of the proband was performed with the use of next-generation sequencing technology.

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Background: The influence of biomarkers in human lifespan has been investigated but with no clear results yet.

Materials And Methods: Lipids, Uric Acid (UA), Adiponectin (ADIPOQ), Insulin-like Growth Factor (IGF-1), cholesteryl ester transfer protein (CETP) and angiotensin-converting enzyme (ACE) proteins, as well as , , () and -gene polymorphisms were evaluated in 149 Greek individuals. The Long-Lived Families (LON) (n=84) comprised of 3 generations: long-lived aged ≥90 years (P), offspring (FL1) and their grandchildren (FL2), while the Short-Lived Families (EAD) (n=65) where both parents died <75 years, comprised of 2 generations: middle-aged (FD1) and children (FD2).

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Danon disease is a rare X-linked cardiac and skeletal muscle disorder with multisystem clinical manifestations. Genetic defects at the lysosome-associated membrane 2 protein (LAMP2) are the cause of the disorder. Due to the rarity of the disease, there is limited progress in understanding the correlation between genotype and phenotype, and explaining the large variability of the clinical features of the disease.

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The purpose of the current study was to identify the potential association between Single Nucleotide Polymorphism (SNP) TGFβ1 +915 (C or G) in codon 25 and Primary Open Angle Glaucoma (POAG). Overall, 88 cases with POAG and a control group of 52 healthy individuals were recruited from the First Ophthalmology Department of Athens University. DNA was isolated from whole blood samples and genotype frequencies for the polymorphism rs1800471 (G915C, Arg25Pro) of the TGF-β1 gene were assessed.

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Objective: The present study is on line with our previous studies evaluating the influence of ATP-binding cassette transporter A1 () gene polymorphisms on the lipid variables of Greek student-nurses. The current study was undertaken to (1) estimate the influence of variant(s) such as rs2066715 (V825I), R219K, R1587K, I883M of gene on lipid variables and (2) evaluate the effect of all four polymorphisms on common demographic parameters.

Methods: The study population involved 432 unrelated nurses (86 men) who were genotyped for polymorphisms and correlated according to lipid variables [total cholesterol (TC), triglycerides (TGs), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and apolipoprotein (apo) A] and demographic parameters (age, gender, BMI, waist circumference).

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Cardiovascular events may occur even after complete revascularization in patients with coronary artery disease. We measured preoperative osteopontin (OPN) levels in 131 consecutive patients (66.5 ± 10 years old, 117 men and 14 women) with left ventricular ejection fraction of 50.

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Article Synopsis
  • - Calcific aortic valve stenosis (CAVS) is a common condition in individuals over 60, involving factors like lipid buildup and inflammation, leading researchers to explore various biomarkers for diagnosing and understanding the disease process.
  • - The study assessed tissue samples and serum biomarkers related to collagen turnover and calcification in 60 CAVS patients compared to 20 healthy controls, measuring factors like matrix metalloproteinases and inflammatory markers.
  • - Results showed significant correlations between tissue calcification and various biomarkers; patients with CAVS had lower levels of TIMP1, fetuin-A, and relaxin-2, while other biomarkers were elevated, indicating potential pathological mechanisms at play.
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Background: Hypertension, one of the most important risk factors for premature cardiovascular disease, is a major worldwide public health problem. Angiotensin-1-converting enzyme (ACE) and angiotensinogen (AGT) gene polymorphisms are thought to be associated with primary hypertension. In the present study, we examined the frequency of these gene polymorphisms in an adult population with and without essential hypertension.

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Objective. To evaluate the association of BNP and CRP with the development of postoperative atrial fibrillation following coronary artery bypass grafting surgery. Methods.

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Article Synopsis
  • Bloodstream infections (BSIs) are common complications in thoracic transplant patients, particularly soon after surgery when they are heavily immunosuppressed, making prompt pathogen identification crucial for survival.
  • This study analyzed 130 blood samples from 30 thoracic transplant recipients, comparing results from a multiplex real-time PCR test (SeptiFast) with traditional blood culture methods to detect infections.
  • SeptiFast not only matched the results of blood cultures in most cases but also identified additional microorganisms in several samples, significantly increasing the detection rate of BSIs and providing faster results, which enhances diagnosis and potential treatment strategies.
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Introduction: Recently new human leukocyte antigen (HLA) antibody screening methods have been shown to significantly improve thoracic transplantation outcomes. The best combination of assays for both allocation and monitoring is still under investigation. Herein, we evaluated the correlation and clinical relevance of three methodologies to detect donor-specific anti-HLA antibodies (DSA).

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