Links between accuracy and effectiveness of laboratory medicine equipment: use of the EUnetHTA core model to compare two analyzers by measuring HbA1c.

Objectives: In the field of Laboratory Medicine, the evolution of knowledge and the innovation of technologies are the basis of analytical and diagnostic progress, leading to the development of new solutions based on innovative technologies. However, these advances must be accompanied by evidence of appropriateness, diagnostic effectiveness, and organizational efficiency, considering the test's first impact on patient outcomes.

Methods: The Health Technology Assessment (HTA) is a valid management tool to support Laboratory Medicine professionals in assessing technologies and which is the most appropriate to adopt.

Value-Based Health Care Implementation: The Case Study of mTBI Biomarkers.

Traumatic brain injury is a significant global health issue, affecting approximately 69 million people annually. Early diagnosis is crucial for effective management, and biomarkers provide a promising approach to identifying traumatic brain injury in various settings. This study investigates the perceived usefulness of biomarker testing in two distinct contexts: emergency departments and sports settings.

Effects of Structurally Different Tertiary Amines on the Properties of Quaternized Anionic Exchange Membranes Potentially Applicable for Water Electrolysis.

In this work, two structurally different monoamines (trimethylamine [TMA] and N-methylpiperidine [N-MPip]) are used for the amination of a g-VBC-15 graft copolymer, obtained by the functionalization of a mechanically robust, commercially available styrene-butadiene block copolymer (SB) with vinylbenzyl chloride (VBC) via solution free-radical polymerization. Results demonstrate that g-VBC-15-based membranes quaternized with TMA have superior electrochemical performance than N-MPip counterparts; while, the mechanical properties are good and only slightly inferior to those of N-MPip. Therefore, TMA is the selected monoamine to be alternatively mixed with two polyamines (tetramethyl-1,3-propanediamine [TMPDA] and N,N,N',N'',N''-pentamethyldiethylenetriamine [PMDETA]) into different proportions, in order to modulate the average functionality of the amination mixture in terms of number of amine functional groups available for the quaternization reaction of the membranes.

Melanocortin-1 receptor (MC1R): a review for dermatologists.

Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin.

Advance in Genomics of Rare Genetic Diseases.

Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [...

Multimodal Detection and Targeting of Biopsy-Proven Myocardial Inflammation in Genetic Cardiomyopathies: A Pilot Report.

The authors present a clinical report focused on the overlap between myocarditis and genetic cardiomyopathies of the dilated and arrhythmogenic spectrum. Our cohort was composed of 25 patients undergoing extensive baseline characterization and prospective reassessment by a dedicated multidisciplinary disease unit during a median follow-up of 69 months. We showed that the use of multimodal imaging allowed both discrimination of specific genotypes and identification of myocardial inflammation proven using endomyocardial biopsy.

The total testing process harmonization: the case study of SARS-CoV-2 serological tests.

The total testing process harmonization is central to laboratory medicine, leading to the laboratory test's effectiveness. In this opinion paper the five phases of the TTP are analyzed, describing, and summarizing the critical issues that emerged in each phase of the TTP with the SARS-CoV-2 serological tests that have affected their effectiveness. Testing and screening the population was essential for defining seropositivity and, thus, driving public health policies in the management of the COVID-19 pandemic.

Sponge-like Cryogels from Liquid-Liquid Phase Separation: Structure, Porosity, and Diffusional Gel Properties.

Macroporous gels find application in several scientific fields, ranging from art restoration to wastewater filtration or cell entrapment. In this work, two-component sponge-like cryogels are challenged to assess their cleaning performances and to investigate how pores size and connectivity affect physico-chemical properties. The gels were obtained through a freeze-thaw process, exploiting a spontaneous polymer-polymer phase-separation occurring in the pre-gel solution.

Electrocardiogram Changes in the Postictal Phase of Epileptic Seizure: Results from a Prospective Study.

Background: The brain and heart are strictly linked and the electrical physiologies of these organs share common pathways and genes. Epilepsy patients have a higher prevalence of electrocardiogram (ECG) abnormalities compared to healthy people. Furthermore, the relationship between epilepsy, genetic arrhythmic diseases and sudden death is well known.

Functional Characterisation of the Rare p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.

Brugada syndrome (BrS) is an inherited autosomal dominant cardiac channelopathy. Pathogenic rare mutations in the gene, encoding the alpha-subunit of the voltage-dependent cardiac Na channel protein (Nav1.5), are identified in 20% of BrS patients, affecting the correct function of the channel.

Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench.

Over recent years, preclinical and clinical evidence has implicated myocardial inflammation (M-Infl) in the pathophysiology and phenotypes of traditionally genetic cardiomyopathies. M-Infl resembling myocarditis on imaging and histology occurs frequently as a clinical manifestation of classically genetic cardiac diseases, including dilated and arrhythmogenic cardiomyopathy. The emerging role of M-Infl in disease pathophysiology is leading to the identification of druggable targets for molecular treatment of the inflammatory process and a new paradigm in the field of cardiomyopathies.

Gonadotropin-Releasing Hormone (GnRH)/GnRH Receptors and Their Role in the Treatment of Endometriosis.

Endometriosis, defined as the development of endometrial tissue outside of the uterine cavity, is a common gynecological disorder. The prevalence of pelvic endometriosis approaches 6%-10% in the general female population, and in women with pain, infertility, or both, the frequency is 35%-50%. The gold standard recommended process for diagnosing endometriosis is laparoscopy, an invasive surgical procedure, with or without histologic verification.

Vinylbenzyl Chloride/Styrene-Grafted SBS Copolymers via TEMPO-Mediated Polymerization for the Fabrication of Anion Exchange Membranes for Water Electrolysis.

In this work, a commercial SBS was functionalized with the 2,2,6,6-tetramethylpiperidin--oxyl stable radical (TEMPO) via free-radical activation initiated with benzoyl peroxide (BPO). The obtained macroinitiator was used to graft both vinylbenzyl chloride (VBC) and styrene/VBC random copolymer chains from SBS to create g-VBC-x and g-VBC-x--Sty-z graft copolymers, respectively. The controlled nature of the polymerization as well as the use of a solvent allowed us to reduce the extent of the formation of the unwanted, non-grafted (co)polymer, thereby facilitating the graft copolymer's purification.

Challenges of the Effectiveness of Traumatic Brain Injuries Biomarkers in the Sports-Related Context.

Traumatic brain injury affects 69 million people every year. One of the main limitations in managing TBI patients is the lack of univocal diagnostic criteria, including the absence of standardized assessment methods and guidelines. Computerized axial tomography is the first-choice examination, despite the limited prevalence of positivity; moreover, its performance is undesirable due to the risk of radiological exposure, prolonged stay in emergency departments, inefficient use of resources, high cost, and complexity.

A longitudinal analysis of humoral, T cellular response and influencing factors in a cohort of healthcare workers: Implications for personalized SARS-CoV-2 vaccination strategies.

Introduction: SARS-CoV-2 mRNA vaccinations elicit both virus-specific humoral and T-cell responses, but a complex interplay of different influencing factors, such as natural immunity, gender, and age, guarantees host protection. The present study aims to assess the immune dynamics of humoral, T-cell response, and influencing factors to stratify individual immunization status up to 10 months after Comirnaty-vaccine administration.

Methods: To this aim, we longitudinally evaluated the magnitude and kinetics of both humoral and T-cell responses by serological tests and enzyme-linked immunospot assay at 5 time points.

Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy.

Background: Predictors of major adverse cardiovascular events (MACE) in patients with undefined left ventricular arrhythmogenic cardiomyopathy (ULVACM) have not been described.

Objectives: The purpose of this study was to investigate the prognostic value of genetic testing and histology in a cohort of ULVACM patients.

Methods: We identified 313 patients with ULVACM defined by new-onset ventricular arrhythmia (VA), nonischemic pattern of late gadolinium enhancement limited to the left ventricle (LV), and no severe dilated cardiomyopathy (LV ejection fraction ≥40%) from a retrospective multicenter registry.

Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

Brugada syndrome (BrS) is an inherited autosomal dominant genetic disorder responsible for sudden cardiac death from malignant ventricular arrhythmia. The term "channelopathy" is nowadays used to classify BrS as a purely electrical disease, mainly occurring secondarily to loss-of-function mutations in the α subunit of the cardiac sodium channel protein Nav1.5.

Six months SARS-CoV-2 serology in a cohort of mRNA vaccinated subjects over 90 years old.

Ageing is associated with a progressive decline and remodelling of the immune system. Also, the efficacy of COVID-19 vaccines has been observed to depend on subjects' age. The post-vaccination data about patients aged > 90 years old is scarcely represented in the literature.

Unilateral Duplicated Collecting System Identified During Pelvic Lymphadenectomy: A Case Report and Literature Review.

Anatomic variations can be an additional challenge for any surgeon, especially in complicated surgical procedures, and they could lead to complications if not identified timely. We present a case report of an incidental intraoperative finding of unilateral duplicated ureter, identified during pelvic lymphadenectomy for a patient who underwent surgical treatment for ovarian cancer. Also, we include an update on this anatomic variation following the literature review.

Health technology assessment to employ COVID-19 serological tests as companion diagnostics in the vaccination campaign against SARS-CoV-2.

Objectives: In scenarios of vaccine scarcity or contexts of organizational complexity, it is necessary to define prioritization strategies for allocating vaccine doses in compliance with the criterion of equity and efficiency of health resources. In this context, the COVIDIAGNOSTIX project, based on the health technology assessment (HTA), assessed the role of SARS-CoV-2 serological tests as a companion diagnostic in the definition of the vaccination strategies for the vaccine administration. To guarantee evidence support for health policy choices, two different vaccine strategies were analyzed, one based on administering the vaccine booster dose to the entire population (VACCINE strategy) and the other based on allocation criteria (TEST&VACCINE strategy).

Evaluation of antibody titer kinetics and SARS-CoV-2 infections in a large cohort of healthcare professionals ten months after administration of the BNT162b2 vaccine.

Background: Real-world population studies have shown waning immunity, over time, after receiving the two doses of the BNT162b2 COVID-19 vaccine. Studies reporting the long-term humoral response are important to drive future vaccination strategies like the introduction of the booster dose. Yet, available literature on long follow-up periods is scarce.

Genetic background of mitral valve prolapse.

Mitral valve prolapse (MVP) has a prevalence of 2-3% among the population. It involves a heterogeneous group of patients with different expressions and according to the phenotype can be further divided into fibroelastic deficiency, which is mainly considered as a degeneration due to aging, and myxomatous disease, frequently associated with familiar clusters. Thus, MVP can be present in syndromic, when part of a well-defined syndrome, and non-syndromic forms.

Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.

Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/or ethnic backgrounds. The development of high-throughput technologies, such as next-generations sequencing, able to allow the study of large genomic regions in a time and cost-affordable way, has moved carrier screening toward a more comprehensive and extensive approach, i.