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Elevated plasma concentration of cholesterol bound to LDL (LDL-C) is the predominant risk factor for cardiovascular (CV) diseases. An important number of clinical trials demonstrated that the use of statins to reduce LDL-C is beneficial in terms of prevention of CV events in the entire population. Over time, specific LDL-C targets to be achieved have been established to guarantee the best outcome for the patient from the therapeutic intervention. The fundamental role of the clinical laboratory in diagnosis and treatment monitoring of dyslipidemias, requires that harmonization in the different phases of the laboratory process be pursued and achieved in order to allow the correct management of patients. The harmonization process has been the subject of national and international recommendations over time; however, a further recommendation is essential, considering that some recent evidences testify to a sub-optimal adoption of the indications by a non-negligible number of laboratories, confirming the need to repeat training and information activities. Aim of this joint document is to analyze the importance of the therapeutic targets to be achieved and the critical elements of laboratory diagnostic related to dyslipidemia, in order to provide indications for the harmonization of the reporting of the lipid profile. According to these recommendations, the lipid parameters should be reported accompanied by the therapeutic goals differentiated by the risk categories for LDL-C and non-HDL-C and by the threshold values for the other parameters. The use of comparison terms like Reference values or Normal values in the laboratory report must be definitely abandoned. [ABSTRACT FROM AUTHOR]

In recent years, the increasing digitalization of health technologies and systems for collecting and storing health data has allowed for the creation of value from data and its use. However, this has led to the need to implement risk management regarding the protection and loss of health data. Observational studies, by nature, do not pose direct additional risks to the health of patients. However, the privacy of patients' needs to be preserved. This document, by presenting the obligations introduced by the current Regulation and delving into its impacts on governance, security, and management of health data, aims to provide technical-organizational measures to support the use of health data for research purposes in retrospective observational studies, particularly in laboratory medicine. It should be noted that this document is merely illustrative with reference to the cases analyzed and does not intend in any way to eliminate the evaluations of the Data Protection Officer (DPO) of the involved structures, as well as the necessary and timely risk assessment reserved for the Data Controller (DC). The document therefore aims to support the researcher in the task of providing the DPO and the DC with all the preliminary information regarding the study, in order to simplify and speed up the evaluation process. Accordingly, the document has been structured so that the researcher can benefit not only from information on the current legislation but also from informal tools such as dialogue windows with the lawyer and the analysis of real-world case studies. [ABSTRACT FROM AUTHOR]

The improved sensitivity of Next Generation Sequencing (NGS), in comparison to Sanger sequencing, results in increased identification of unusual findings. Typically, heterozygous germline variants are expected to be detected with NGS at a 50% read-frequency. However, NGS may identify clinically relevant variants at significantly different frequencies. Those in the 5.0-30% range are generally filtered out as low-quality data. Nevertheless, low-frequency variants could be truly present in DNA samples from peripheral blood, due to clonal hematopoiesis of indeterminate potential (CHIP) or constitutional mosaicism, where the variant is only present in a fraction of cells, as the result of a post-zygotic mutation during embryonic development. So, hereditary cancer analysis needs to be improved. Clinically relevant variants that result less than 30% in reads frequency, should be evaluated. Initially, sequencing artifacts and chimerism due to bone marrow transplantation should be excluded. Then, analyses on secondary normal tissues should be performed. If clinically relevant variants with low frequency are not confirmed except for blood, these mutations should be considered as CHIP events. Otherwise, if the analyses in non-transformed samples yield positive results, they would suggest the patients' constitutional mosaicisms. Testing parents and offspring could provide definitive proof that the low-frequency variants are germline heritable mosaicisms. These results would have a profound impact on mosaic patients' surveillance, prophylactic surgery, treatment options, and their family members risk assessment. [ABSTRACT FROM AUTHOR]

Introduction: monoclonal antibodies therapeutic (t-mAbs) are used in the treatment of multiple myeloma (MM). They are composed of IgG-k and may interfere with the patient's endogenous IgG-k monoclonal component (MC). The Hydrashift test (Sebia, Lisses, FR), the daratumumab immunofixation reflex test (DIRA test), is able to eliminate interference by t-mAbs. This work aims to determine how many DIRA tests were performed in the laboratory of the Department of Laboratory Medicine of Modena (Italy) and how the DIRA test has been used in our daily practice and its impact on the clinical management of the patient as well. Methods: the DIRA test was applied by the laboratory on patients selected on the basis of: their clinical history, of monoclonal components, comparison with previous electrophoresis, the characteristic pattern of the gamma zone, and evidence of an additional peak in the gamma zone. The data were extracted from the laboratory information system. Results: from August 2021 to December 2022 we performed the DIRA test on 240 samples for a total of 160 patients. 198 (82.5%) samples came from onco-haematological wards or day hospitals, the remaining 17.5% included samples from external sampling centers or non-onco-haematological. In 88 (55%) patients the DIRA test was positive. Conclusions: the use of the DIRA test allowed a correct diagnosis in 55% of the patients undergoing electrophoretic examination. DIRA is an inexpensive test, easily performed in any laboratory; however, an effective use of the test requires a close collaboration between haematologists and the laboratory. [ABSTRACT FROM AUTHOR]

Reimbursement model may have a significant impact on the behaviour of healthcare providers about the overall cost and resulting quality of care. In this light, there is increasing interest in exploring models that align improved patient outcomes and cost-effective care. Healthcare systems and payers are looking at alternative payment models, such as bundled payments or value-based reimbursement, aimed to promote better patient outcomes and overall value of care rather than just the amount of services provided. These alternative models may be more effective in promoting cost-effective and high-quality laboratory testing associating financial incentives with patient health outcomes. In this review, alternative reimbursement models in Laboratory Medicine are examined in order to develop a wider agenda for evaluating the effects of laboratory investigations and to provide a more objective and effective evaluation of the economic value and the impact on patient outcomes of laboratory testing. Value-Based Healthcare is a healthcare delivery model aimed to provide the best possible patient outcomes related to the cost of care. It is fundamental to develop further models based on Value-Based Payment Models, supporting the value of care rather than the volume of services provided; this way, it will be possible to demonstrate the key role of effective diagnostic information of Laboratory Medicine. It seems fundamental to develop a Value-Based Laboratory system, merging the "production process cost evaluations" with assessed outcomes related to the cost and value of laboratory test delivered, with the aim to promote a Value-Based Healthcare and Value-Based Reimbursement in Laboratory Medicine [ABSTRACT FROM AUTHOR]

The protein concentration in urine is a valuable parameter in assessing kidney function. Usually, blood proteins do not pass through the renal filter in healthy subjects; proteinuria, which can sometimes be detected as a simple, occasional laboratory finding, is a relatively common condition of which those affected are unaware. Epidemiologically, it is a condition that involves almost 10% of the population worldwide. The mechanisms underlying the release of proteins by the kidneys are different: a newly detected proteinuria may precede the onset of renal disease or systemic diseases, and the physician must appropriately evaluate it. This paper provides a hint of epidemiology, some notes of pathophysiology, an overview of the types of proteinuria, a rundown on laboratory techniques and a brief, certainly not exhaustive, review of some non-oncological pathologies associated with proteinuria. The aim is to show the extent to which proteinuria can play a decisive role in the patient's overall assessment. The urine protein test, a basic, non-invasive test, easy to perform by any laboratory, even the most poorly equipped, is a fundamental indicator of a subject's health status in combination with other markers. Thus, it confirms once again the crucial role of the laboratory in providing the physician with necessary diagnostic and prognostic data that is easy to perform, inexpensive and yet of great benefit for the patient management. [ABSTRACT FROM AUTHOR]

Many studies have demonstrated the crucial pathophysiological and clinical relevance to evaluate cardiac specific biomarkers (natriuretic peptides and cardiac troponins) for the diagnosis and risk prediction of cardiovascular diseases in the general population and in patients with cardiovascular diseases as well. However, some important pathophysiological aspects still need to be better clarified, such as the possible influence of the sex hormones on the circulating concentrations of cardiac biomarkers and therefore on the interpretation of changes in their circulating levels in healthy subjects and in patients with cardiovascular disease. The primary purpose of this document is to discuss the pathophysiological and clinical relevance of sex- and/or gender-related differences in circulating levels of cardiac biomarkers. In the first part of this document, the pathophysiological mechanisms related to age, sex, gonadal development and function (including pregnancy) will be discussed. In the second part, the pharmacological effects of sex hormone therapy will be discussed. Sex hormones can be prescribed to patients of both sexes as replacement therapy, for prevention or treatment. However, many transgender persons undergo treatment with gender-affirming hormone therapy in order to help aligning their physical traits and gender identity. Accordingly, the possible effect of sex steroid hormone administration on the circulating levels of cardiac-specific biomarkers will be discussed. The most recent studies confirm the pathophysiological hypothesis that the androgenic steroid hormones (particularly testosterone) are generally associated with higher levels of cardiac troponins. On the other hand, the administration of estrogenic steroid hormones (particularly estradiol) can stimulate the production and release of cardiac natriuretic hormones from cardiomyocytes. [ABSTRACT FROM AUTHOR]

The purpose of this paper is to discuss in detail the analytical features and clinical relevance of the high-sensitivity cardiac troponin I (hs-cTnI) POCT methods in patients suspected of having NSTEMI, especially taking into consideration the possible application of the recommendations reported by the international guidelines in the clinical practice. In the first part, we will describe the analytical performance and clinical results of the new POCT methods for the measurement of hs-cTnI, in comparison with those of hs-cTnI methods used in clinical laboratories with the most common automated analytical platforms, and those of non high-sensitivity POCT. In the second part, we will discuss the 2023 recommendations of the IFCC Committee on the Clinical Application of Cardiac Biomarkers (IFCC C-CB) document, with the aim to provide some useful recommendations on educational paths to implement the use of POCT hs-cTnI methods in clinical practice. In the last part, we will describe some possible technological developments of POCT hs-cTnI methods, with the goal to bring these tests even "closer" to the patient and/or to continuously monitor the circulating biomarker levels. [ABSTRACT FROM AUTHOR]

Point of care testing (POCT) identifies laboratory diagnostic tests conducted near the site of patient care, outside the laboratory, usually performed by healthcare personnel not professionally trained in laboratory medicine. When used appropriately, POCT could improve the patient's outcomes providing faster results and earlier therapeutic strategies. In the Province of Modena, a decentralized and multi-professional POCT diagnostic system consisting of 383 instruments was developed to integrate the clinical and diagnostic pathways supporting fast clinical decisions, to improve outcomes and to optimize the clinical patient pathways. POCT instruments were installed not only in emergency rooms of three hospitals but also in specific settings as the Community hospital (OSCO), oncological and emergency settings and neonatal intensive care. Furthermore, 264 glucometers were located in various departments of three hospitals. This system provides multiple advantages for: patients reducing waiting time and long-distance travelling from home, healthcare professionals improving skills, autonomy and responsibility, reducing workload and promoting collaboration, and the healthcare system giving continuity in the therapeutic and assistance pathways ensuring a high analytical quality and costs reduction. To implement a successful POCT network main factors are to be developed : a multidisciplinary team composed by physicians, nurses and laboratory technicians working together, the continuous training and education of operators and a close connectivity between POCTs and central laboratory. [ABSTRACT FROM AUTHOR]

Background: Nucleic Acid Amplification Test (NAAT) can detect the SARS-CoV-2 at low viral load, but the risk of isolating unnecessarily people who are no longer infectious may preclude its use as screening test. Immunoassay can be an alternative screening tool to detect viral antigens, thanks to their high throughput, feasibility and practicability. In this study, we compare the results obtained by a chemiluminescent immunoassay against the molecular test. Methods: 105 positive NAAT nasopharyngeal swabs (NPS) with threshold cycle (Ct) between 39 and 13, and 15 negative samples were analyzed with two different methods based on chemiluminescent technology (CLIA) targeted to nucleocapsid SARS-Cov-2 antigen: Maglumi (SNIBE diagnostic Shenzen, China), and Liaison XL (DiaSorin s.p.a., Saluggia, Italy). Results: all 15 negative NPS (Ct >40) were confirmed as negative with both CLIA assays; 31 positive NPS out of 105 positive (Ct ≤40) were confirmed positive on Maglumi and Liaison (29.5%). The agreement between the two immunoassays was 100%. Conclusions: as expected, CLIA tests demonstrated to be less sensitive to the viral presence than NAAT. In particular, Maglumi and Liaison can detect a positivity when the virus is detected at a Ct <25. The range between 24 and 25 Ct was a grey area, where NAAT and CLIA were not in perfect agreement. It seems that antigen tests reach satisfactory sensitivities when infected people are more likely to be contagious; this characteristic makes them a useful tool for screening the population, especially during the pandemic [ABSTRACT FROM AUTHOR]

We report the case of a diabetic woman from west Africa with a presumptive diagnosis of HbSS previously suggested in another laboratory. However, during analysis for HbA1c with a novel instrument for capillary electrophoresis capable of both HbA1c and hemoglobin variants analysis, we suspected and later confirmed (with a centralized molecular study) the presence of a double heterozigosity for a beta gene defect, namely HbS and Hereditary Persistence of Fetal Hemoglobin (HbS/HPFH). Our case highlights the importance of ruling out any possible interference affecting the HbA1c measurement that could compromise its interpretation, posing a risk for erroneous clinical management of diabetes mellitus. The availability of both high resolution HbA1c and hemoglobin variants analysis on the same instrument could lead to a rapid presumptive identification of previously unknown or misdiagnosed hemoglobinopathies. [ABSTRACT FROM AUTHOR]

In accordance with all the most recent international guidelines, the variation of circulating levels of cardiac troponins I and T, measured with high-sensitivity methods (hs-cTnI and hs-cTnT), should be used for the detection of acute myocardial injury. Recent experimental and clinical evidences have demonstrated that the evaluation of hs-cTnI and hs-cTnT variations is particularly relevant: for the differential diagnosis of Acute Coronary Syndromes in patients admitted to the Emergency Department (ED); for the evaluation of cardiovascular risk in patients undergoing major cardiac or non-cardiac surgery, and in asymptomatic subjects of the general population aged >55 years and with comorbidities; for the evaluation of cardiotoxicity caused by administration of some chemotherapy drugs in patients with malignant tumors. The aim of this document is to discuss the fundamental statistical and biological considerations on the intraindividual variability of hs-cTnI and hs-cTnT over time in the same individual. Firstly, it will be discussed in detail as the variations of circulating levels strictly depend not only on the analytical error of the method used but also on the intra-individual variability of the biomarker. Afterwards, the pathophysiological interpretation and the clinical relevance of the determination of the variability of the hs-cTnI and hs-cTnT values in patients with specific clinical conditions are discussed. Finally, the evaluation over time of the variation in circulating levels of hs-cTnI and hs-cTnT is proposed for a more accurate estimation of cardiovascular risk in asymptomatic subjects from the general population. [ABSTRACT FROM AUTHOR]