Publications by authors named "G. D'Alfonso"

Background: Heart failure with preserved ejection fraction (HFpEF) is a heterogeneous entity including patients with different phenotypes of near normal, normal, and supernormal left ventricular (LV) function.

Objectives: To assess the value of resting LV elastance (also known as force) with transthoracic echocardiography (TTE) to identify HFpEF phenotypes.

Methods: In a prospective, observational, multicenter study, 2380 HFpEF patients were recruited from July 2016 to May 2024.

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Medullary thyroid carcinoma (MTC), a rare neuroendocrine tumor comprising 3-5% of thyroid cancers, arises from calcitonin-producing parafollicular C cells. Despite aggressive behavior, surgery remains the primary curative treatment, with limited efficacy reported for radiotherapy and chemotherapy. Recent efforts have explored the pathogenetic mechanisms of MTC, identifying it as a highly vascularized neoplasm overexpressing pro-angiogenic factors.

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Background/objectives: Axonal Charcot-Marie-Tooth disease type 2 (CMT2) accounts for 24% of Hereditary Motor/Sensory Peripheral Neuropathies. CMT2 type GG, due to four distinct heterozygous mutations in the Golgi brefeldin A resistant guanine nucleotide exchange factor 1 () gene (OMIM 606483), was described in seven cases from four unrelated families with autosomal dominant inheritance. It is characterized by slowly progressive distal muscle weakness and atrophy, primarily affecting the lower limbs.

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Background: The introduction of transcatheter procedures has focused on patient expectations for treatments with a less invasive approach and faster recovery. The aim of this study was to assess the short- and medium-term results in patients who underwent trans-axillary mitral valve repair with application of the ultra-fast-track protocol.

Methods: Data from 431 patients undergoing isolated trans-axillary mitral valve repair or associated with tricuspid valve treatment between January 2018 and December 2023 were prospectively collected.

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Background: Inducible laryngeal obstruction (ILO, also called vocal cord dysfunction) can be difficult to distinguish clinically from asthma. Limited studies have explored the use of respiratory oscillometry to detect changes unique to ILO, but more study is needed to determine if routine oscillometry can differentiate these two clinical entities.

Objective: Determine if impedance variables measured on routine oscillometry over tidal breathing vary between individuals with asthma and ILO.

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Article Synopsis
  • Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system, with unpredictable disability progression, and dopamine is linked to both its pathogenesis and treatment.
  • The study focused on Caucasian patients with relapsing-remitting MS, assessing disease progression through the Multiple Sclerosis Severity Score while exploring the impact of specific single nucleotide polymorphisms (SNPs) in dopaminergic receptor genes.
  • Results indicated that patients with particular genotypes (G/G for rs6280 and rs1800828 SNPs) had significantly higher severity scores, suggesting that these genetic markers could help understand MS progression and inform personalized treatment strategies.
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Following a new approach, we prepared a nanoink with two separate photothermally responsive absorption bands. One is the localized surface plasmon resonance (LSPR) absorption of gold nanoparticles (AuNP, d=17 nm), the second is the absorption band of two cyanine (Cy) dyes, Cy7-C6 or Cy7-C11, grafted to the AuNP surface through thiolated bridges of different lengths: the close proximity to the Au surface induces full quenching of the Cy fluorescence, resulting in thermal relaxation on irradiation. Attempts to full coat AuNP with the lipophilic Cy7-C6 and Cy7-C11 lead to precipitation from aqueous solutions.

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Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein () are associated with 2-5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular mechanisms (e.g.

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The mass of the top quark is measured in 36.3 of LHC proton-proton collision data collected with the CMS detector at . The measurement uses a sample of top quark pair candidate events containing one isolated electron or muon and at least four jets in the final state.

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A search for decays to invisible particles of Higgs bosons produced in association with a top-antitop quark pair or a vector boson, which both decay to a fully hadronic final state, has been performed using proton-proton collision data collected at by the CMS experiment at the LHC, corresponding to an integrated luminosity of 138. The 95% confidence level upper limit set on the branching fraction of the 125 Higgs boson to invisible particles, , is 0.54 (0.

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Article Synopsis
  • Left atrial myopathy is common in chronic coronary syndromes and can be triggered by stress, especially in patients with atrial fibrillation.
  • A study involving 3042 patients assessed left atrial volume and function at rest and during stress, showing that left atrial volume index increased and LA strain decreased as patients progressed from sinus rhythm to permanent atrial fibrillation.
  • The findings highlighted that both paroxysmal and permanent AF are linked to greater left atrial dilation and dysfunction, which correlates with more instances of stress-induced ischemia and pulmonary congestion.
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A search for the standard model Higgs boson decaying to a charm quark-antiquark pair, H→cc[over ¯], produced in association with a leptonically decaying V (W or Z) boson is presented. The search is performed with proton-proton collisions at sqrt[s]=13  TeV collected by the CMS experiment, corresponding to an integrated luminosity of 138  fb^{-1}. Novel charm jet identification and analysis methods using machine learning techniques are employed.

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Multijet events at large transverse momentum () are measured at using data recorded with the CMS detector at the LHC, corresponding to an integrated luminosity of . The multiplicity of jets with that are produced in association with a high- dijet system is measured in various ranges of the of the jet with the highest transverse momentum and as a function of the azimuthal angle difference between the two highest jets in the dijet system. The differential production cross sections are measured as a function of the transverse momenta of the four highest jets.

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The structure of nucleons is multidimensional and depends on the transverse momenta, spatial geometry, and polarization of the constituent partons. Such a structure can be studied using high-energy photons produced in ultraperipheral heavy-ion collisions. The first measurement of the azimuthal angular correlations of exclusively produced events with two jets in photon-lead interactions at large momentum transfer is presented, a process that is considered to be sensitive to the underlying nuclear gluon polarization.

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The production of Z bosons associated with jets is measured in collisions at with data recorded with the CMS experiment at the LHC corresponding to an integrated luminosity of 36.3. The multiplicity of jets with transverse momentum is measured for different regions of the Z boson's , from lower than 10 to higher than 100.

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Production cross sections of the standard model Higgs boson decaying to a pair of W bosons are measured in proton-proton collisions at a center-of-mass energy of 13. The analysis targets Higgs bosons produced via gluon fusion, vector boson fusion, and in association with a W or Z boson. Candidate events are required to have at least two charged leptons and moderate missing transverse momentum, targeting events with at least one leptonically decaying W boson originating from the Higgs boson.

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The double differential cross sections of the Drell-Yan lepton pair (, dielectron or dimuon) production are measured as functions of the invariant mass , transverse momentum , and . The observable, derived from angular measurements of the leptons and highly correlated with , is used to probe the low- region in a complementary way. Dilepton masses up to 1 are investigated.

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New sets of parameter tunes for two of the colour reconnection models, quantum chromodynamics-inspired and gluon-move, implemented in the pythia  8 event generator, are obtained based on the default CMS pythia  8 underlying-event tune, CP5. Measurements sensitive to the underlying event performed by the CMS experiment at centre-of-mass energies and 13, and by the CDF experiment at 1.96 are used to constrain the parameters of colour reconnection models and multiple-parton interactions simultaneously.

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A measurement of the jet mass distribution in hadronic decays of Lorentz-boosted top quarks is presented. The measurement is performed in the lepton + jets channel of top quark pair production () events, where the lepton is an electron or muon. The products of the hadronic top quark decay are reconstructed using a single large-radius jet with transverse momentum greater than 400.

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A search is reported for pairs of light Higgs bosons () produced in supersymmetric cascade decays in final states with small missing transverse momentum. A data set of LHC collisions collected with the CMS detector at and corresponding to an integrated luminosity of 138 is used. The search targets events where both bosons decay into pairs that are reconstructed as large-radius jets using substructure techniques.

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Article Synopsis
  • This study investigates how different genetic variants associated with amyotrophic lateral sclerosis (ALS) interact and affect the progression of the disease in patients.
  • 1,245 ALS patients and 766 matched controls were analyzed to determine the impact of specific genetic variants on survival rates.
  • The findings suggest that the presence of certain detrimental genetic variants leads to significantly shorter survival times in patients, with specific combinations of alleles resulting in notably decreased longevity.
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Unlabelled: Horyzons is a digital health intervention designed to support recovery in young people receiving specialized early intervention services for first-episode psychosis (FEP). Horyzons was developed in Australia and adapted for implementation in Canada based on input from clinicians and patients (Horyzons-Canada Phase 1) and subsequently pilot-tested with 20 young people with FEP (Horyzons-Canada Phase 2).

Objective: To understand the experiences of young adults with FEP who participated in the pilot study based on focus group data.

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Digital health innovations may help to improve access to psychosocial therapy and peer support; however, the existence of evidence-based digital health interventions for individuals recovering from a first-episode psychosis (FEP) remains limited. This study aims to investigate the feasibility, acceptability, safety, and pre-post outcomes of Horyzons-Canada (HoryzonsCa), a Canadian adaptation of a digital mental health intervention consisting of psychosocial interventions, online social networking, and clinical and peer support moderation. Using a convergent mixed-methods research design, we recruited participants from a specialized early intervention clinic for FEP in Montreal, Canada.

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