Publications by authors named "Duilio Brugnoni"

Article Synopsis
  • The EN ISO 15189:2022 standard updates regulations for medical laboratories, replacing previous versions and aiming for better quality and competence.
  • The revision focuses on aligning with ISO/IEC 17025:2017, enhancing patient safety, and providing clearer guidelines while minimizing new requirements.
  • A guidance document from the EFLM Committee has been produced to help laboratories and accreditation bodies understand and implement these changes effectively.
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Plasma phosphorylated-tau217 (p-tau217) has been shown to be one of the most accurate diagnostic markers for Alzheimer's disease. No studies have compared the clinical performance of p-tau217 as assessed by the fully automated Lumipulse and single molecule array (SIMOA) AlZpath p-tau217. The study included 392 participants, 162 with Alzheimer's disease, 70 with other neurodegenerative diseases with CSF biomarkers and 160 healthy controls.

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Article Synopsis
  • Haemophagocytic lymphohistiocytosis (HLH) is a rare and severe immune system disorder characterized by excessive activation of immune cells, leading to tissue damage and potential multi-organ failure.
  • A study examined pediatric patients suspected of having HLH by analyzing bone marrow samples and various biomarkers, finding significant differences in blood levels of hemoglobin, fibrinogen, triglycerides, ferritin, and lactate dehydrogenase (LD) between HLH patients and controls.
  • The research concluded that blood biomarkers were more effective for diagnosing HLH than morphological evaluations, with specific cell types, particularly engorged red blood cells, showing the strongest diagnostic capabilities.
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Aim of the project was to evaluate the technical and clinical validity of plasma Lumipulse p-tau, Aβ42 and Aβ40 species and their correlation with CSF core Alzheimer's Disease (AD) markers; a method comparison with SIMOA was also performed. One-hundred-thirthy-three participants, namely 55 A+T+N+ AD, 28 Neurodegenerative disorders (NDD) and 50 controls were enrolled for the study. Lumipulse technical validity showed high stability for p-tau181, Aβ42, and Aβ40, with higher stability of p-tau to repeated freezing thaw cycles.

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Background: The COVID-19 pandemic has had a significant impact on the management and care of onco-hematological patients, particularly those with lymphoproliferative disorders who are at higher risk for COVID-19 associated bacterial and fungal superinfections.

Case Presentation: We present the successful treatment of a 44-year-old male patient with refractory mantle cell lymphoma treated with chimeric antigen receptor T (CAR-T) cell therapy, despite concurrent COVID-19 infection. The patient developed grade II cytokine release syndrome, requiring admission to the intensive care unit.

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Article Synopsis
  • Medical laboratories must document various activities to maintain service quality, leading to the generation of multiple documents, forms, and reports.
  • Each document's retention time must be specified, adhering to national laws or professional guidelines, with a defined retention schedule created when guidelines are lacking.
  • The EFLM Working Group offers recommendations for retention periods based on a risk-based approach (FMEA), aligning with ISO 15189:2022 for general quality management.
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Background: Plasma phosphorylated-tau217 (p-tau217) has been shown to be one of the most accurate diagnostic markers for Alzheimer's disease (AD). No studies have compared the clinical performance of p-tau217 as assessed by the fully automated Lumipulse and SIMOA ALZpath p-tau217.

Aim: To evaluate the diagnostic accuracy of Lumipulse and SIMOA plasma p-tau217 assays for AD.

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Article Synopsis
  • Elderly patients with severe COVID-19 showed reduced T-cell diversity and weaker immune responses compared to younger patients, highlighting age-related vulnerabilities in fighting the virus.
  • The study used advanced sequencing techniques to analyze T-cell responses in both COVID-19 patients and individuals with inborn errors of immunity who received an mRNA vaccine, revealing specific genetic associations affecting these responses.
  • Findings indicated that mRNA vaccines successfully enhanced the T-cell responses in individuals with immune deficiencies, suggesting their effectiveness even in populations that struggle to develop strong immune responses on their own.
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Background And Aims: The monitoring of yearly distributions of HbA measured has been indicated as a reliable indicator of worldwide standardization.

Materials And Methods: Measurements/year of HbA have been collected over three consecutive years in 15 Italian laboratories each using the same analytical method over three years period. HbA distributions, cleaned of replicated measurements, were compared by the overlapping area of the raw probability density functions expressed by coefficient eta (η), and by comparing the reference intervals for the central part of each distribution estimated by the indirect method refineR using the R package "refineR".

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We report a novel case of SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) mutation successfully treated with hematopoietic stem cell transplantation. The female patient presented delayed cord separation, chronic diarrhea, skin abscesses, skeletal dysmorphisms, and neutropenia with specific granule deficiency. Analysis of the transcriptomic profile of peripheral blood sorted mature and immature SMARCD2 neutrophils showed defective maturation process that associated with altered expression of genes related to specific, azurophilic, and gelatinase granules, such as LTF, CRISP3, PTX3, and CHI3L1.

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Article Synopsis
  • MIS-C is a serious condition in children linked to COVID-19 that leads to an overactive immune response.
  • A study analyzed 40 MIS-C patients, finding that they had high inflammatory markers and altered immune cell types during different phases of the disease.
  • Understanding the immune changes in MIS-C could guide better treatments for diseases caused by immune system dysfunction.
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Background: Minimal residual disease (MRD) monitoring is an important tool to optimally address post-transplant management of acute myeloid leukemia (AML) patients.

Methods: We retrospectively analyzed the impact of bone marrow CD34+ molecular chimerism and on the outcome of a consecutive series of 168 AML patients submitted to allogeneic stem cell transplantation.

Results: The cumulative incidence of relapse (CIR) was significantly lower in patients with donor chimerism on CD34+ cells ≥ 97.

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Objectives: Being COVID-19 convalescent plasma (CCP) a therapeutic option that can have a potential impact on the normalization of immunological parameters of COVID-19 affected patients, a detailed analysis of post-infusion immunological changes was conducted in CCP treated patients, aiming to identify possible predictive hallmarks of disease prognosis.

Methods: This prospective observational study describes a cohort of 28 patients who received CCP shortly after being hospitalized for COVID-19 and diagnosed for Acute Respiratory Distress Syndrome. All patients were subjected to a detailed flow cytometry based evaluation of immunological markers at baseline and on days +3 and +7 after transfusion.

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The development of chimeric antigen receptor (CAR)-T cell therapy has revolutionized the treatment of hematological diseases. However, approximately 60% of patients relapse after CAR-T cell therapy, and no clear cause for this failure has been identified. The objective of the Bio-CAR-T BS study (ClinicalTrials.

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It is now generally accepted that laboratory errors or inaccurate results are mainly due to deficiencies in the pre-analytical phase. In this report, we describe the case of a 64-year-old male affected by a relapsing follicular lymphoma, who has been treated with chemotherapy through a central venous catheter (CVC). Four different samples were collected alternatively through peripheral venipuncture and CVC sampling.

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Therapy-related myeloid neoplasm (t-MN) is a threatening complication of autologous stem cell transplantation (ASCT). Detecting clonal hematopoiesis (CH) mutations in cryopreserved cells before ASCT has been associated with a higher risk of t-MN, but the evolution of molecular abnormalities from pre-ASCT to t-MN, within the same patient, remains to be elucidated. We evaluated the mutational profile of 19 lymphoma/myeloma patients, at both pre-ASCT and t-MN diagnosis, using a targeted NGS approach; 26 non-developing t-MN control patients were also studied pre-ASCT.

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Clinicians trust medical laboratories to provide reliable results on which they rely for clinical decisions. Laboratories fulfil their responsibility for accurate and consistent results by utilizing an arsenal of approaches, ranging from validation and verification experiments to daily quality control procedures. All these procedures verify, on different moments, that the results of a certain examination procedure have analytical performance characteristics (APC) that meet analytical performance specifications (APS) set for a particular intended use.

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The ISO 15189:2012 standard section 5.9.1 requires laboratories to review results before release, considering quality control, previous results, and clinical information, if any, and to issue documented procedures about it.

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Immune and inflammatory responses to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) contribute to disease severity of coronavirus disease 2019 (COVID-19). However, the utility of specific immune-based biomarkers to predict clinical outcome remains elusive. Here, we analyzed levels of 66 soluble biomarkers in 175 Italian patients with COVID-19 ranging from mild/moderate to critical severity and assessed type I IFN-, type II IFN-, and NF-κB-dependent whole-blood transcriptional signatures.

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Background: Critically ill patients with coronavirus disease 2019 (COVID-19) have a profound hypercoagulable state and often develop coagulopathy which leads to organ failure and death. Because of a prolonged activated partial-thromboplastin time (aPTT), a relationship with anti-phospholipid antibodies (aPLs) has been proposed, but results are controversial. Functional assays for aPL (i.

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Coronavirus disease 2019 emergency has created an enormous stress on providers that have been transformed into coronavirus disease hospitals. This article presents the experience of the clinical laboratory of Spedali Civili in Brescia (a teaching hospital in Lombardy with over 1500 beds) in managing the crisis, and to offer practical considerations for laboratory testing for this cohort of patients. Our contribution is threefold: by comparing the demand for tests in two representative period before and within the crisis, we show the change in compositions of the analytes that other labs may expect; we present the new panels of tests that hospital staff can order with different advantage for wards and laboratory; and we show how to reorganize staff on the basis of changes mentioned above.

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