Publications by authors named "Porcari A"
Cardiac amyloidosis: when to suspect and how to confirm.
J Cardiovasc Med (Hagerstown)
February 2025
Diagnosing cardiac amyloidosis (CA) is challenging because of its phenotypic heterogeneity, multiorgan involvement requiring interaction among experts in different specialties and subspecialties, lack of a single noninvasive diagnostic tool, and still limited awareness in the medical community. Missing or delaying the diagnosis of CA may profoundly impact on patients' outcomes, as potentially life-saving treatments may be omitted or delayed. The suspicion of CA should arise when "red flags" for this condition are present, together with increased left ventricular wall thickness.
View Article and Find Full Text PDFImportance: Patients with transthyretin (ATTR) cardiac amyloid infiltration are increasingly diagnosed at earlier disease stages with no heart failure (HF) symptoms and a wide range of cardiac amyloid infiltration.
Objective: To characterize the clinical phenotype and natural history of asymptomatic patients with ATTR cardiac amyloid infiltration.
Design, Setting, And Participants: This cohort study analyzed data of all patients at 12 international centers for amyloidosis from January 1, 2008, through December 31, 2023.
Metabolomic analysis of the changes in plasma metabolites in obesity along with physical activity interaction may contribute to disease diagnosis and treatment. We sought to make a comprehensive assessment of the plasma metabolite profile of subjects with a lean ( = 20, BMI = 22.3) or overweight/obese ( = 29, BMI = 29) body mass index (BMI) and low ( = 33, IPAQ = 842) or high ( = 16, IPAQ = 6935) index of physical activity questionnaire (IPAQ), using an untargeted metabolomic approach.
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- The study analyzed changes in electrocardiographic (ECG) characteristics in patients with different types of cardiac amyloidosis (AL, ATTRv, and ATTRwt) and looked at their predictive value for patient outcomes.
- In a large sample of 356 patients, it was found that those with ATTRwt had more conduction issues, while AL patients exhibited more signs of low QRS voltage and T wave inversion.
- Overall, the ECG abnormalities progressed similarly in all subtypes, but a longer QRS duration at baseline was associated with worse survival, indicating it could be a potential marker for advanced disease.
The effectiveness of indirect Intravascular laser irradiation of blood (ILIB) is not fully understood. In this study, we provided a novel experiment that employs metabolomics to investigate the effects of ILIB in women. Twenty-eight volunteers underwent indirect ILIB and had their plasma collected before and after this procedure.
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- The field of omics, particularly transcriptomics, proteomics, and metabolomics, has advanced significantly due to high-throughput technologies, allowing detailed study of biological systems.
- Analyzing omics data separately limits understanding, making the integration of these data sets crucial for comprehensive research in bioinformatics.
- This article reviews various integration strategies, including co-expression analysis and machine learning techniques, to help researchers uncover complex patterns and interactions in biological systems.
Central nervous system (CNS) tumors are the second most frequent type of neoplasm in childhood and adolescence, after leukemia. Despite the incorporation of molecular classification and improvement of protocols combining chemotherapy, surgery, and radiotherapy, CNS tumors are still the most lethal neoplasm in this age group. Mass spectrometry imaging (MSI) is a powerful tool to map the distribution of molecular species in tissue sections.
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- The understanding of cardiac amyloidosis has significantly evolved in the past decade, leading to better diagnostic and treatment methods.
- This complex disease requires collaboration among various medical specialists to ensure timely diagnosis, risk assessment, and effective management.
- The inter-society consensus document aims to standardize diagnostic approaches in Italy and address clinical challenges for healthcare providers working with patients suspected of having cardiac amyloidosis.
Importance: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive cardiomyopathy that commonly presents with concomitant chronic kidney disease. Chronic kidney dysfunction is associated with worse outcomes, but the prognostic value of changes in kidney function over time has yet to be defined.
Objective: To assess the prognostic importance of a decline in estimated glomerular filtration rate (eGFR) in a large cohort of patients with ATTR-CM.
Metformin is an antihyperglycemic used to treat type 2 diabetes mellitus (T2DM). Patients with T2DM are at increased risk of cardiovascular disease. We explored the association between metformin use and cardiovascular magnetic resonance (CMR) derived stress myocardial blood flow (MBF), myocardial perfusion reserve (MPR) and major adverse cardiovascular events (MACE; all cause death, MI, stroke, heart failure hospitalisation and coronary revascularisation) in patients with T2DM.
View Article and Find Full Text PDFAims: Cardiac amyloidosis (CA) is characterized by deposition of amyloid fibrils within the extracellular space, causing disarray of the myocardial structure and capillary architecture. This study aims to characterize the prevalence of microvascular obstruction (MVO) in patients with CA and to assess the association between MVO and prognosis.
Methods And Results: The study population comprised 800 patients, of which 400 had light-chain CA (AL-CA) and 400 had transthyretin CA (ATTR-CA).
Introduction: Colorectal cancer (CRC) is the third most incident and the second most lethal malignant tumor. Despite the recognized association between obesity and CRC, further clarification is necessary regarding the lipids that are overexpressed during the development of CRC. In this scenario, the combination of metabolomics and a three-dimensional (3D) co-culture model involving CRC tumor cells and lipids can enhance the knowledge of energy metabolism modifications at the cross-talk between colorectal cancer and adipocytes.
View Article and Find Full Text PDFAims: The contribution of SARS-CoV-2 infection on lung damage and the effect of vaccination on either containing the number of deaths or mitigating lung damage has not been systematically investigated.
Methods: Post-mortem analysis was performed among consecutive in-patients with COVID-19 deceased in the Province of Trieste (2020-2022). The outcomes of the study were (i) rates of in-hospital mortality, (ii) contribution of COVID-19 to death, (iii) histological extent of lung injury and (iv) impact of vaccination.
Article Synopsis
- The study investigates the connection between plasma metabolomic profiles and biopsychosocial factors in overweight/obese women with knee osteoarthritis (KOA), a condition that often coexists with obesity and muscle weakness.
- Involving 28 participants, the research assesses functional tests and various questionnaires to gather data on their biopsychosocial responses over two lab visits.
- The findings reveal 13 metabolic differences between control and KOA groups, with specific molecules showing correlations with pain and functional outcomes in KOA, suggesting the need for further research to fully understand these relationships.
Background: The introduction of a noninvasive diagnostic algorithm in 2016 led to increased awareness and recognition of cardiac amyloidosis (CA).
Objectives: The purpose of this study was to analyze the impact of the introduction of the noninvasive diagnostic algorithm on diagnosis and prognosis in a multicenter Italian CA cohort.
Methods: This was a retrospective analysis of 887 CA patients from 5 Italian Cardiomyopathies Referral Centers: 311 light-chain CA, 87 variant transthyretin (TTR)-related CA, 489 wild-type TTR-related CA.
Article Synopsis
- Cardiac amyloid infiltration significantly impacts survival in systemic light-chain (AL) amyloidosis, with guidelines suggesting early therapy changes for patients not responding well, regardless of cardiac amyloid severity.
- The study aimed to compare serum biomarkers, echocardiography, and cardiovascular magnetic resonance (CMR) with extracellular volume (ECV) mapping in understanding cardiac amyloid and its prognostic value.
- Findings revealed that ECV is a strong independent predictor of mortality, showing different relationships between the depth of hematological response and survival based on specific ECV thresholds over 1- and 6-month periods.
Background: Neoadjuvant chemotherapy (NACT) has arisen as a treatment option for breast cancer (BC). However, the response to NACT is still unpredictable and dependent on cancer subtype. Metabolomics is a tool for predicting biomarkers and chemotherapy response.
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- This study aims to enhance the NAC staging system for transthyretin cardiac amyloidosis (ATTR-CA) by adding a new stage to better identify patients at high risk of early death.
- A new stage 4 was introduced based on NT-proBNP levels (≥10,000 ng/L), and results from 2042 patients showed significantly higher mortality rates for this group compared to lower stages.
- The findings suggest that patients in stage 4 may need more intensive treatment strategies due to their elevated risk of early mortality, which could also inform clinical trial designs.
Article Synopsis
- The study aimed to explore the prevalence of transthyretin amyloidosis variant cardiomyopathy (ATTRv-CM) among relatives at risk, assess the effectiveness of repeated evaluations, and analyze first-line diagnostic methods like ECG and echocardiogram.
- Among 159 relatives evaluated, 25% were diagnosed with ATTRv-CM, and half of those diagnosed exhibited heart failure symptoms, showcasing a high negative predictive value for screening based on specific criteria.
- The findings emphasize the need for ongoing monitoring, as 13% of patients with ATTRv-CM showed no initial cardiac signs, suggesting regular follow-up testing is crucial for early detection and management.
Article Synopsis
- This study analyzed the effectiveness and tolerability of SGLT2 inhibitors in patients with transthyretin cardiomyopathy (ATTR-CM), a condition previously excluded from related clinical trials.
- Out of 2,356 ATTR-CM patients, 260 received SGLT2 inhibitors, and after matching for certain variables, it was found that SGLT2i treatment led to less deterioration in heart failure symptoms and better kidney function over time.
- The findings suggest that SGLT2i treatment not only had a low discontinuation rate but also significantly reduced the risks of all-cause mortality, cardiovascular mortality, and heart failure hospitalizations in these patients.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a relatively prevalent cause of morbidity and mortality. Over the recent years, development of disease-modifying treatments has enabled stabilization of the circulating transthyretin tetramer and suppression of its hepatic production, resulting in a remarkable improvement in survival of patients with ATTR-CM. Second-generation drugs for silencing are currently under investigation in randomized clinical trials.
View Article and Find Full Text PDFTransthyretin amyloid cardiomyopathy (ATTR-CM) is caused by the myocardial extracellular deposition of amyloid fibrils formed from the dissociation of TTR tetramer into monomers. The rate-limiting step in TTR amyloidogenesis is the dissociation of the TTR tetramer into monomers: Tafamidis is an effective TTR-stabilizer in its native homotetrameric structure. Tafamidis is a safe and effective drug in reducing symptoms, hospitalization and mortality in accurately selected patients affected by hereditary and wild-type transthyretin amyloid cardiomyopathy.
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