Guglielmina Pepe
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View article: Investigating pump harmonics generation in a SNAIL-based traveling wave parametric amplifier
Investigating pump harmonics generation in a SNAIL-based traveling wave parametric amplifier Open
Traveling wave parametric amplifiers (TWPAs) are extensively employed in experiments involving weak microwave signals for their highly desirable quantum-limited and broadband characteristics. However, TWPAs’ broadband nature comes with the…
View article: Single photon detection up to 2 µm in pair of parallel microstrips based on NbRe ultrathin films
Single photon detection up to 2 µm in pair of parallel microstrips based on NbRe ultrathin films Open
Superconducting microstrip single photon detectors (SMSPDs) are increasingly attracting the interest of the scientific community as a new platform for large area detectors with unprecedented advantaged in terms of fabrication. However, whi…
View article: Modeling flux tunability in Josephson Traveling Wave Parametric Amplifiers with an open-source frequency-domain simulator
Modeling flux tunability in Josephson Traveling Wave Parametric Amplifiers with an open-source frequency-domain simulator Open
Josephson Traveling Wave Parametric Amplifiers (JTWPAs) are integral parts of many experiments carried out in quantum technologies. Being composed of hundreds of Josephson junction-based unit cells, such devices exhibit complex nonlinear b…
View article: THE HF–ABCDE+FG APPROACH IN HEART FAILURE: A SIMPLIFIED DECISION– MAKING ALGORITHM FOR MANAGEMENT IN EMERGENCY DEPARTMENT
THE HF–ABCDE+FG APPROACH IN HEART FAILURE: A SIMPLIFIED DECISION– MAKING ALGORITHM FOR MANAGEMENT IN EMERGENCY DEPARTMENT Open
The–HF– ABCDE+FG protocol is an easy to memorize algorithm for diagnosis and treatment of Heart failure (HF) in the setting of Emergency Department (ED). The acronym “ABCDE” recalls the more famous ABCDE sequence proposed in Advanced Life …
View article: Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome
Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome Open
Loeys-Dietz syndrome (LDS) displays 5 types which are in differential diagnosis with Marfan syndrome (MFS) and other heritable rare connective tissue diseases (CTDs).
View article: Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnostic work-up of patients and families with (suspected) Heritable Thoracic Aortic Diseases (HTAD). A statement from the HTAD Working Group of VASCERN
Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnostic work-up of patients and families with (suspected) Heritable Thoracic Aortic Diseases (HTAD). A statement from the HTAD Working Group of VASCERN Open
Background Timely diagnosis of patients with Heritable Thoracic Aortic Diseases (HTAD) is essential to avoid (often fatal) aortic dissection. Experts of the HTAD rare disease working group of the European Reference Network of Rare Vascular…
View article: Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection
Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection Open
The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and “elusive”, as it generally grows asymptomatically prior to rupture, le…
View article: Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2
Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2 Open
Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and sy…
View article: Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach
Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach Open
Background: To develop a tool for assessing normalcy of the thoracic aorta (TA) by echocardiography, based on either a linear regression model (Z-score), or a machine learning technique, namely one-class support vector machine (OC-SVM) (Q-…
View article: Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice? Open
Next-generation sequencing (NGS)’s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by the European Society of Human Genetics. Factors of different nature produ…
View article: Lidar techniques for a SNSPD-based measurement
Lidar techniques for a SNSPD-based measurement Open
LIDAR, Light detection and ranging, is a remote measurement technique used to investigate the properties of the atmosphere. The detectors used in these measurements play a crucial role in the determination of the reached resolution, the ma…
View article: Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype Open
Background. Bicuspid aortic valve (BAV) is a common congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant pattern of inheritance with reduced penetrance and variable expressivi…
View article: Erratum: “RF assisted switching in magnetic Josephson junctions” [J. Appl. Phys. <b>123</b>, 133901 (2018)]
Erratum: “RF assisted switching in magnetic Josephson junctions” [J. Appl. Phys. <b>123</b>, 133901 (2018)] Open
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View article: Role of surgical setting and patients-related factors in predicting the occurrence of postoperative pulmonary complications after abdominal surgery.
Role of surgical setting and patients-related factors in predicting the occurrence of postoperative pulmonary complications after abdominal surgery. Open
Patients undergoing abdominal surgery in an urgent setting were exposed to a higher risk of PPCs compared to patients scheduled for elective procedures. Ariscat score fitted with PPCs prevalence and older patients were exposed to a higher …
View article: Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis
Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis Open
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable …
View article: Investigation of dark counts in innovative materials for superconducting nanowire single-photon detector applications
Investigation of dark counts in innovative materials for superconducting nanowire single-photon detector applications Open
The phenomenon of dark counts in nanostripes of different superconductor systems such as high-temperature superconducting YBa2Cu3O7-x and superconductor/ferromagnet hybrids consisting of either NbN/NiCu or YBa2Cu3O7- x/L0.7Sr0.3MnO3 bilaye…
View article: Fibrillins in Tendon
Fibrillins in Tendon Open
Tendons among connective tissue, mainly collagen, contain also elastic fibers (EF) made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon. Only in the last ye…
View article: Another piece in the puzzle of bicuspid aortic valve syndrome
Another piece in the puzzle of bicuspid aortic valve syndrome Open
Bicuspid aortic valve (BAV) is a syndrome whose natural history is determined by valvular impairment (congenital or acquired) and/or increased prevalence of aortic abnormalities ranging from reduced aortic elasticity to aortic dilatation/a…
View article: Marfan syndrome: current perspectives
Marfan syndrome: current perspectives Open
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to t…
View article: A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection Open
Thoracic aortic aneurysm/dissection (TAAD) is a potential lethal condition with a rising incidence. This condition may occur sporadically; nevertheless, it displays familial clustering in >20% of the cases. Family history confers a six- to…
View article: Y-Ba-Cu-O nanostripes for optical photon detection
Y-Ba-Cu-O nanostripes for optical photon detection Open
Nanowires of Y-Ba-Cu-O, with the thickness of 50 nm and the width ranging from 90 nm to 500 nm have been successfully grown on lanthanum aluminate substrates for photon detection experiments. The nanowires were up to 10-mu m long and forme…
View article: Bicuspid aortic valve syndrome and fibrillinopathies: potential impact on clinical approach
Bicuspid aortic valve syndrome and fibrillinopathies: potential impact on clinical approach Open
Bicuspid aortic valve (BAV) is a common heterogeneous disorder whose natural history is determined by hemodynamicvalvular impairment and/or increased prevalence of aortic abnormalities ranging from dilatation to aneurysm and dissection.BAV…
View article: Diagnostic performance of focused cardiac ultrasound performed by emergency physicians for the assessment of ascending aorta dilatation and aneurysm
Diagnostic performance of focused cardiac ultrasound performed by emergency physicians for the assessment of ascending aorta dilatation and aneurysm Open
Patients and methods This was a prospective single-centre cohort study of a convenience sample of patients that underwent CTA in the emergency department for suspected aortic pathology. FOCUS was performed before CTA and the maximum ascend…