Publications by authors named "Matteo Porta"

Acute cholecystitis (AC) presents a significant burden in emergency surgical settings. Early laparoscopic cholecystectomy (ELC) is the standard of care for AC, yet its implementation varies. This study aims to assess the impact of preoperative waiting time (WT) on postoperative length of stay (LOS) in patients undergoing urgent cholecystectomy.

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The achievement of complete remission (CR) is crucial for acute myeloid leukemia (AML) patients undertaking curative therapy, but relapse often occurs within months, highlighting the need for strategies to prolong disease-free survival (DFS). Our phase III study compared the efficacy and safety of azacitidine (AZA) to best supportive care (BSC) in elderly AML patients who achieved CR following intensive induction and consolidation therapy. This ancillary study (QOL-ONE Trans-2) evaluated biological changes in bone marrow using Next-Generation Sequencing (NGS).

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Article Synopsis
  • Since 2017, combining targeted therapies with traditional chemotherapy has led to better outcomes for acute myeloid leukemia (AML) patients.
  • A study of 5,359 AML patients over 20 years used data from the HARMONY Alliance to analyze treatment outcomes during four 5-year periods from 1997 to 2016.
  • Results show significant improvements in 5-year survival rates and reduced 60-day mortality (from 13.0% to 4.7%), even across different genetic risk groups, indicating that the advancements in treatment have positively affected patient outcomes.
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Modern healthcare is experiencing a significant transformation, utilizing technology to improve patient outcomes and make processes more efficient. Breast cancer, being the most commonly diagnosed cancer in women globally, requires innovative approaches for effective management. Digital Therapeutics (DTx) and Clinical Decision Support Systems (CDSSs) have emerged as pivotal technologies, offering personalized, patient-centered care and optimizing clinical decision-making.

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Myelodysplastic syndromes/neoplasms (MDS) and acute myeloid leukaemia (AML) are neoplastic haematopoietic cell proliferations that are diagnosed and classified based on a combination of morphological, clinical and genetic features. Specifically, the percentage of myeloblasts in the blood and bone marrow is a key feature that has historically separated MDS from AML and, together with several other morphological parameters, defines distinct disease entities within MDS. Both MDS and AML have recurrent genetic abnormalities that are increasingly influencing their definitions and subclassification.

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Article Synopsis
  • The WHO and International Consensus Classification 2022 aim to improve diagnosis and treatment decisions for myelodysplastic syndromes, but disparities in their implementation exist.
  • A panel of experts used a data-driven method and the Delphi consensus process to align the two classifications, focusing on genomic features to create harmonized labels for distinct clusters.
  • Key findings identified nine genomic clusters, with the most significant linked to biallelic TP53 inactivation, and highlighted the inadequacy of traditional morphological assessments in capturing the complexity of these diseases.
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  • Myelodysplastic neoplasms/syndromes (MDS) are a diverse set of diseases marked by ineffective blood cell production.
  • Recent classification systems by the World Health Organization and the International Consensus have provided more detailed categorizations of MDS based on morphology and genetics.
  • A comprehensive and systematic approach is essential for the accurate diagnosis and classification of MDS, as outlined by the International Consortium for MDS (icMDS).
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Magnesium (Mg) is involved in essential cellular and physiological processes. Globally, inadequate consumption of Mg is widespread among populations, especially those who consume processed foods, and its homeostasis is impaired in obese individuals and type 2 diabetes patients. Since Mg deficiency triggers oxidative stress and chronic inflammation, common features of several frequent chronic non-communicable diseases, interest in this mineral is growing in clinical medicine as well as in biomedicine.

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Vacuoles, E1-enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is caused by mutations in the UBA1 gene in myeloid precursors, leading to systemic inflammatory manifestations. We present the case of a 75-year-old man presenting with fever, panniculitis, and macrocytic anemia testing repeatedly negative for UBA1 mutations in peripheral blood samples, but ultimately found positive on bone marrow mononuclear cell DNA. The man has been successfully treated with prednisone and methotrexate.

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Background: Appendicitis is the most frequent global abdominal surgical emergency. An ageing population, who often exhibit atypical symptoms and delayed presentations, challenge conventional diagnostic and treatment paradigms.

Objectives: This study aims to delineate disparities in presentation, management, and outcomes between elderly patients and younger adults suffering from acute appendicitis.

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Article Synopsis
  • Mutations in the TP53 gene, especially multihit alterations, are linked to worse clinical outcomes in patients with myelodysplastic syndrome (MDS).
  • This study analyzed TP53 abnormalities in 682 patients with MDS who had an isolated deletion of chromosome 5 (MDS-del(5q)), revealing that 24% had multihit mutations, indicating a greater risk for leukemic transformation.
  • The study found that the effect of monoallelic mutations varies with the variant allele frequency (VAF); lower VAF (<20%) behaved like wild-type TP53, while higher VAF (≥20%) showed outcomes similar to multihit mutations, highlighting the need for careful consideration of TP53 status in
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Background: The preplanned interim analysis of the COMMANDS trial showed greater efficacy of luspatercept than epoetin alfa for treating anaemia in erythropoiesis-stimulating agent (ESA)-naive patients with transfusion-dependent, lower-risk myelodysplastic syndromes. In this Article, we report the results of the primary analysis of the trial.

Methods: COMMANDS is a phase 3, open-label, randomised, controlled trial conducted at 142 sites in 26 countries.

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Introduction: Chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or mutation (MDS-RS/) differ in many clinical features, but share others, such as anemia. RS and mutation can also be found in CMML.

Methods: We compared CMML with and without RS/ and MDS-RS/ considering the criteria established by the 2022 World Health Organization classification.

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Article Synopsis
  • Myelodysplastic syndromes (MDS) are blood disorders marked by irregularities in myeloid cells and low blood cell counts, often caused by genetic mutations, though classification has mostly focused on cell appearance.
  • A study analyzing genomic data from over 3,200 MDS patients identified 16 distinct molecular subtypes, revealing varied clinical outcomes, with the majority of patients (86%) fitting into specific genetic groups linked to different survival rates.
  • The findings suggest that understanding these genetically defined subgroups can enhance MDS classification and inform future treatment strategies, emphasizing the importance of genetic insight in managing the disease.
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Purpose: Rare cancers constitute over 20% of human neoplasms, often affecting patients with unmet medical needs. The development of effective classification and prognostication systems is crucial to improve the decision-making process and drive innovative treatment strategies. We have created and implemented MOSAIC, an artificial intelligence (AI)-based framework designed for multimodal analysis, classification, and personalized prognostic assessment in rare cancers.

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Notable treatment advances have been made in recent years for patients with myelodysplastic syndromes/neoplasms (MDS), and several new drugs are under development. For example, the emerging availability of oral MDS therapies holds the promise of improving patients' health-related quality of life (HRQoL). Within this rapidly evolving landscape, the inclusion of HRQoL and other patient-reported outcomes (PROs) is critical to inform the benefit/risk assessment of new therapies or to assess whether patients live longer and better, for what will likely remain a largely incurable disease.

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  • Advancements in understanding myelodysplastic neoplasms (MDS) have revealed important cellular and molecular factors that influence disease progression, highlighting the significance of immune dysregulation in the bone marrow during MDS evolution.
  • Despite these advancements, immunotherapy for MDS has lagged due to a lack of effective immune classifications for patient stratification and no widely accepted immune panels for clinical use.
  • To address these challenges, the i4MDS consortium proposes standardized immune monitoring approaches, including flow cytometry panels and cytokine assays, aiming to improve patient stratification and develop predictive markers for treatment response in MDS.
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Purpose: Decision about the optimal timing of a treatment procedure in patients with hematologic neoplasms is critical, especially for cellular therapies (most including allogeneic hematopoietic stem-cell transplantation [HSCT]). In the absence of evidence from randomized trials, real-world observational data become beneficial to study the effect of the treatment timing. In this study, a framework to estimate the expected outcome after an intervention in a time-to-event scenario is developed, with the aim of optimizing the timing in a personalized manner.

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Article Synopsis
  • Allogeneic hematopoietic stem-cell transplantation is the only curative option for patients with myelodysplastic syndromes, and the timing of this treatment is crucial for maximizing benefits and minimizing risks.
  • A decision support system was developed to identify the optimal timing for HSCT based on clinical and genomic data from a large study of over 7,000 patients, comparing outcomes using the Molecular International Prognostic Scoring System (IPSS-M) against traditional scoring methods.
  • The findings suggest that patients with lower risk can benefit from delaying transplantation, while those at higher risk should undergo it immediately, indicating that the IPSS-M strategy significantly improves life expectancy and supports personalized treatment plans.
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  • Mutations in the UBA1 gene, which are linked to VEXAS syndrome, have been found in patients with myelodysplastic syndromes (MDS), with a study identifying 7% of a cohort having specific UBA1 mutations.
  • An additional sequencing analysis of a larger group revealed 1% with other potentially harmful variants, and all 40 identified patients with likely/pathogenic mutations were male with various MDS subtypes.
  • Most patients with UBA1 mutations exhibited symptoms consistent with VEXAS syndrome, suggesting that routine screening for UBA1 mutations should be considered in MDS management.
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Disease classification of complex and heterogenous diseases, such as acute myeloid leukaemia (AML), is continuously updated to define diagnoses, appropriate treatments, and assist research and education. Recent availability of molecular profiling techniques further benefits the classification of AML. The World Health Organization (WHO) classification of haematolymphoid tumours and the International Consensus Classification of myeloid neoplasms and acute leukaemia from 2022 are two updated versions of the WHO 2016 classification.

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  • Most new drug approvals rely on large randomized clinical trials (RCTs), but results can vary even among similar trials, making it hard to apply findings broadly.
  • There is a gap between conclusions drawn from RCTs and those based on real-world data (RWD), which reflects actual patient experiences outside of controlled settings.
  • The use of real-world evidence (RWE) from RWD, especially when enhanced by artificial intelligence, is gaining traction in haematology and could help support regulatory decisions alongside traditional trial data.
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  • Onco-hematological studies use statistical mixture models, like Hierarchical Dirichlet Mixture Models (HDMM), to improve the classification of blood cancers through a focus on molecular biology and personalized medicine.
  • The research proposes two methods to characterize HDMM components—computing multinomial parameters or using Multivariate Fisher's Non-Central Hypergeometric (MFNCH) distributions—and demonstrates the effectiveness of the MFNCH approach in patient assignment to these components.
  • Results from both simulated and real Acute Myeloid Leukemia data show that the MFNCH-based method can outperform or match the traditional multinomial-based method while maintaining a balance between complexity and clinical relevance.
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Breastfeeding is the gold standard in infant nutrition and continuous researches aim to optimize infant formula composition as the best alternative available. Human milk lipid content provides more than 50% of energy requirements for infants together with essential vitamins, polyunsaturated fatty acids, and other bioactive components. While fatty acids and vitamins human milk content has been extensively studied and, when needed those have been added to infant formulas, less is known about polyunsaturated fatty acids functional derivatives and other bioactive components.

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