Publications by authors named "Amendola L"

In rheumatoid arthritis (RA), the risk of cardiovascular death is 50% higher compared to the general population. This increased risk is partly due to the systemic inflammation characteristic of RA and changes in the lipoprotein profiles. This study investigated plasma lipid levels, lipid ratios, and the composition and functionality of high-density lipoprotein (HDL) in control individuals and RA subjects based on the disease's inflammatory score (DAS28).

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  • The ongoing GUARDIAN study aims to evaluate the feasibility and acceptability of genome sequencing as an addition to traditional newborn screening across diverse racial and ethnic groups in New York City.
  • As of the interim analysis covering 4,000 newborns, 72% of approached families consented to participate, reflecting a representative sample of various racial and ethnic demographics.
  • The study primarily assessed the screen-positive rate, enrollment rate, and successful sequencing completion, with a large majority of families opting to screen for both early-onset genetic conditions and additional neurodevelopmental disorders.
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This proof-of-concept study aimed to assess the diagnostic potential of gas chromatography-mass spectrometry (GC-MS) in profiling volatile organic compounds (VOCs) from exhaled breath as a diagnostic tool for the chronic coronary syndrome (CCS). Exhaled air was collected from patients undergoing invasive coronary angiography (ICA), with all samples obtained prior to ICA. Post hoc, patients were divided into groups based on coronary lesion severity and indications for revascularization.

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Laboratory mice are typically housed in "shoebox" cages with limited opportunities to engage in natural behaviour. Temporary access to environments with increased space and complexity (playpens) may improve mouse welfare. Previous work by our group has shown that mice are motivated to access and use these environments, but it is unknown how other aspects of welfare are impacted.

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Purpose: Research that includes diverse patient populations is necessary to optimize implementation of telehealth.

Methods: As part of a Clinical Sequencing Evidence-Generating Research Consortium cross-site study, we assessed satisfaction with mode of return of results (RoR) delivery across a diverse sample of participants receiving genetic testing results in person vs telemedicine (TM).

Results: Ninety-eight percent of participants were satisfied with their mode of results delivery.

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  • The study addresses the limitations of current genetic testing for cardiovascular disease (CVD) by introducing a comprehensive clinical genome test with semi-automated interpretation.
  • The test assesses various genetic factors, including monogenic conditions, polygenic risk scores, and pharmacogenomics, using data from a broad genomic database.
  • Findings suggest that this approach can effectively identify genetic risks for CVD, providing valuable information for patients and potentially enabling broader public health applications.
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Genomic sequencing is poised to expand newborn screening for treatable childhood-onset disorders. Over 30 international research studies and companies are exploring its use, collectively aiming to screen more than 500,000 infants. A key challenge is determining which genes to include in screening.

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Currently, there are no widely accepted recommendations in the genomics field guiding the return of incidental findings (IFs), defined here as unexpected results that are unrelated to the indication for testing. Consequently, reporting policies for IFs among laboratories offering genomic testing are variable and may lack transparency. Herein we describe a framework developed to guide the evaluation and return of IFs encountered in probands undergoing clinical genome sequencing (cGS).

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  • * Macrophages pre-treated with AGE-albumin released higher levels of inflammatory cytokines (TNF, IL-6, IL-1beta) compared to those treated with control albumin, with notable increases persisting for up to 24 hours.
  • * The p65 subunit of nuclear factor kappa B (NFKB) shows prolonged activation in AGE-treated macrophages, suggesting that targeting this pathway could help manage inflammation-related complications.
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Scalable models for result disclosure are needed to ensure large-scale access to genomics services. Research evaluating alternatives to genetic counseling suggests effectiveness; however, it is unknown whether these findings are generalizable across populations. We assessed whether a letter is non-inferior to telephone genetic counseling to inform participants with no personal or family history of cancer of their normal results.

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The Watch List (WL) is a monitoring program under the European Water Framework Directive (WFD) to obtain high-quality Union-wide monitoring data on potential water pollutants for which scarce monitoring data or data of insufficient quality are available. The main purpose of the WL data collection is to determine if the substances pose a risk to the aquatic environment at EU level and subsequently to decide whether a threshold, the Environmental Quality Standards (EQS) should be set for them and, potentially to be listed as priority substance in the WFD. The first WL was established in 2015 and contained 10 individual or groups of substances while the 4th WL was launched in 2022.

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Objective: Tumor-infiltrating lymphocytes are detectable in up to 75% of triple-negative breast cancer. The composition of these infiltrates may influence prognosis and is not known regarding regulatory or effector lymphocytes. The objectives of this study were to describe and quantify the composition of the tumor-infiltrating lymphocytes before and after chemotherapy (neoadjuvant chemotherapy) and to evaluate their association with complete pathological response and overall survival.

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Purpose: Although the role of CHEK2 germline pathogenic variants in cancer predisposition is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited.

Methods: An international workgroup developed guidance on clinical management of CHEK2 heterozygotes informed by peer-reviewed publications from PubMed.

Results: Although CHEK2 is considered a moderate penetrance gene, cancer risks may be considered as a continuous variable, which are influenced by family history and other modifiers.

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Purpose: With increasing utilization of genetic testing, sharing genetic information can become part of general family health communication while providing biological relatives with important information about their own genetic risk. Importantly, little is known about motivations for and barriers to family communication of genetic information in historically underserved populations.

Methods: Using mixed methods, we explored patient experiences with family communication in a study population of English- and Spanish-speaking adults aged 18 to 49 years, enriched for participants from historically underserved backgrounds.

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Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

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This study aimed to evaluate feasibility, acceptability, reliability, and validity of the existing four-item Shared Decision Making (SDM) Process Scale for use in evaluating genetic testing decisions. Patients from a large hereditary cancer genetics practice were invited to participate in a two-part survey after completing pre-test genetic counseling. The online survey included the SDM Process Scale and the SURE scale, a measure of decisional conflict.

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Purpose: The use of dual mobility cups in total hip arthroplasty has gained popularity in light of the fact it enables to reduce dislocation through increased jumping distance (JD) and impingement-free arc of movement. Modular Dual Mobility Cup (modular DMC) systems have been recently introduced to enable the use of dual mobility cups with standard metal-backed shells. The objective of this study was twofold: calculate the JD for each modular DMC system and conduct a systematic literature review to report clinical outcomes and reasons for failure of this construct.

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Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease Clinical Validity framework in our interpretation and reporting workflow for a clinical genome sequencing (cGS) test for individuals with rare and undiagnosed genetic diseases. This "reactive" gene curation is completed upon identification of candidate variants during active case analysis and within the test turn-around time by focusing on the most impactful evidence and taking advantage of the broad applicability of the framework to cover a wide range of disease areas.

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Purpose: The purpose of the study was to investigate the outcome of dual-mobility cup (DM) compared with a standard cup (SC) in primary total hip arthroplasty (THA) in the long-term follow-up based on a regional Italian joint registry (RIPO).

Methods: The Registry of Prosthetic Orthopaedic Implant (RIPO) was consulted, looking for all primary THAs implanted from 2000 to 2019. Three thousand seven hundred ten were dual-mobility cup (DM) total hip arthroplasties (THA) and 85.

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Here we document how rats separate their living space into different functional regions. Five groups of four female Sprague Dawley rats were housed in caging systems that consisted of two standard cages connected by a tube. Both cages were provided with the same amount of bedding and nesting materials, but only one contained food and water.

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Purpose: Effective approaches to communicate genomic information are needed to ensure equitable care. In a randomized controlled superiority trial, we tested a novel practice model that aims to make genetic counseling inclusive, by making the communication accessible, relational, and actionable (ARIA).

Methods: In total, 696 English- and Spanish-speaking patients aged 18 to 49 years, enriched for individuals from historically underserved backgrounds, were randomized in 1:1 ratio to ARIA or usual care.

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Individual variation in responses to commonly used tests of anxiety and spatial memory is often reported. While this variation is frequently considered to be 'noise', evidence suggests that it is, at least partially, related to consistent individual differences in behavioral responses (i.e.

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