Critical reviews in clinical laboratory sciences最新文献

{"title":"General features, pathogenesis, and laboratory diagnostics of autoimmune encephalitis.","authors":"Stefano Masciocchi, Pietro Businaro, Silvia Scaranzin, Chiara Morandi, Diego Franciotta, Matteo Gastaldi","doi":"10.1080/10408363.2023.2247482","DOIUrl":"10.1080/10408363.2023.2247482","url":null,"abstract":"<p><p>Autoimmune encephalitis (AE) is a group of inflammatory conditions that can associate with the presence of antibodies directed to neuronal intracellular, or cell surface antigens. These disorders are increasingly recognized as an important differential diagnosis of infectious encephalitis and of other common neuropsychiatric conditions. Autoantibody diagnostics plays a pivotal role for accurate diagnosis of AE, which is of utmost importance for the prompt recognition and early treatment. Several AE subgroups can be identified, either according to the prominent clinical phenotype, presence of a concomitant tumor, or type of neuronal autoantibody, and recent diagnostic criteria have provided important insights into AE classification. Antibodies to neuronal intracellular antigens typically associate with paraneoplastic neurological syndromes and poor prognosis, whereas antibodies to synaptic/neuronal cell surface antigens characterize many AE subtypes that associate with tumors less frequently, and that are often immunotherapy-responsive. In addition to the general features of AE, we review current knowledge on the pathogenic mechanisms underlying these disorders, focusing mainly on the potential role of neuronal antibodies in the most frequent conditions, and highlight current theories and controversies. Then, we dissect the crucial aspects of the laboratory diagnostics of neuronal antibodies, which represents an actual challenge for both pathologists and neurologists. Indeed, this diagnostics entails technical difficulties, along with particularly interesting novel features and pitfalls. The novelties especially apply to the wide range of assays used, including specific tissue-based and cell-based assays. These assays can be developed in-house, usually in specialized laboratories, or are commercially available. They are widely used in clinical immunology and in clinical chemistry laboratories, with relevant differences in analytic performance. Indeed, several data indicate that in-house assays could perform better than commercial kits, notwithstanding that the former are based on non-standardized protocols. Moreover, they need expertise and laboratory facilities usually unavailable in clinical chemistry laboratories. Together with the data of the literature, we critically evaluate the analytical performance of the in-house vs commercial kit-based approach. Finally, we propose an algorithm aimed at integrating the present strategies of the laboratory diagnostics in AE for the best clinical management of patients with these disorders.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"45-69"},"PeriodicalIF":10.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41125113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishing optimal cutoff values for high-sensitivity cardiac troponin algorithms in risk stratification of acute myocardial infarction.","authors":"Li Liu, Kent Lewandrowski","doi":"10.1080/10408363.2023.2235426","DOIUrl":"10.1080/10408363.2023.2235426","url":null,"abstract":"<p><p>Acute myocardial infarction (AMI) is a leading cause of mortality globally, highlighting the need for timely and accurate diagnostic strategies. Cardiac troponin has been the biomarker of choice for detecting myocardial injury. A dynamic change in concentrations supports the diagnosis of AMI in the setting of evidence of acute myocardial ischemia. The new generation of high-sensitivity cardiac troponin (hs-cTn) assays has significantly improved analytical sensitivity but at the expense of decreased clinical specificity. As a result, sophisticated algorithms are required to differentiate AMI from non-AMI patients. Establishing optimal hs-cTn cutoffs for these algorithms to rule out and rule in AMI has been the subject of intensive investigations. These efforts have evolved from examining the utility of the hs-cTn 99th percentile upper reference limit, comparing the percentage versus absolute delta thresholds, and evaluating the performance of an early European Society of Cardiology-recommended 3 h algorithm, to the development of accelerated 1 h and 2 h algorithms that combine the admission hs-cTn concentrations and absolute delta cutoffs to rule out and rule in AMI. Specific cutoffs for individual confounding factors such as sex, age, and renal insufficiency have also been investigated. At the same time, concerns such as whether the small delta thresholds exceed the analytical and biological variations of hs-cTn assays and whether the algorithms developed in European study populations fit all other patient cohorts have been raised. In addition, the accelerated algorithms leave a substantial number of patients in a non-diagnostic observation zone. How to properly diagnose patients falling in this zone and those presenting with elevated baseline hs-cTn concentrations due to the presence of confounding factors or comorbidities remain open questions. Here we discuss the developments described above, focusing on criteria and underlying considerations for establishing optimal cutoffs. In-depth analyses are provided on the influence of biological variation, analytical imprecision, local AMI rate, and the timing of presentation on the performance metrics of the accelerated hs-cTn algorithms. Developing diagnostic strategies for patients who remain in the observation zone and those presenting with confounding factors are also reviewed.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"1-22"},"PeriodicalIF":10.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9831929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New biomarkers in acute kidney injury.","authors":"Adam Rossiter, Ashley La, Jay L Koyner, Lui G Forni","doi":"10.1080/10408363.2023.2242481","DOIUrl":"10.1080/10408363.2023.2242481","url":null,"abstract":"<p><p>Acute kidney injury (AKI) is a commonly encountered clinical syndrome. Although it often complicates community acquired illness, it is more common in hospitalized patients, particularly those who are critically ill or who have undergone major surgery. Approximately 20% of hospitalized adult patients develop an AKI during their hospital care, and this rises to nearly 60% in the critically ill, depending on the population being considered. In general, AKI is more common in older adults, in those with preexisting chronic kidney disease and in those with known risk factors for AKI (including diabetes and hypertension). The development of AKI is associated with an increase in both mortality and morbidity, including the development of post-AKI chronic kidney disease. Currently, AKI is defined by a rise in serum creatinine from either a known or derived baseline value and/or oliguria or anuria. However, clinicians may fail to recognize the initial development of AKI because of a delay in the rise of serum creatinine or because of inaccurate urine output monitoring. This, in turn, delays any putative measures to treat AKI or to limit its degree. Consequently, efforts have focused on new biomarkers associated with AKI that may allow early recognition of this syndrome with the intent that this will translate into improved patient outcomes. Here we outline current biomarkers associated with AKI and explore their potential in aiding diagnosis, understanding the pathophysiology and directing therapy.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"23-44"},"PeriodicalIF":10.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10145574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathologist workload, burnout, and wellness: connecting the dots","authors":"Ziyad Khatab, Kattreen Hanna, Andrew Rofaeil, Catherine Wang, Raymond Maung, George M. Yousef","doi":"10.1080/10408363.2023.2285284","DOIUrl":"https://doi.org/10.1080/10408363.2023.2285284","url":null,"abstract":"No standard tool to measure pathologist workload currently exists. An accurate measure of workload is needed for determining the number of pathologists to be hired, distributing the workload fairly...","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"12 1","pages":""},"PeriodicalIF":10.0,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138743681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.","authors":"Giovanni Ponti, Carmine De Angelis, Rosamaria Ponti, Linda Pongetti, Lorena Losi, Alberto Sticchi, Aldo Tomasi, Tomris Ozben","doi":"10.1080/10408363.2023.2234488","DOIUrl":"10.1080/10408363.2023.2234488","url":null,"abstract":"<p><p>Hereditary familial tumors constitute 10-15% of all malignancies and present opportunities for the identification of therapeutic approaches against specific germline genetic defects. Hereditary breast and ovarian cancer (HBOC) syndrome, which is linked to the pathogenic mutations of the breast cancer 1 (<i>BRCA1</i>) and breast cancer 2 (<i>BRCA2</i>) genes, is an important research model for personalized therapeutic approaches for specific germline mutations. HBOC is characterized by multiple cases of breast and ovarian carcinoma in association with other tumors (prostate, pancreas and stomach carcinoma) within the same family branch, a young age of onset (<36 years), bilaterality and an autosomal dominant pattern of inheritance. Counseling, evaluation of the clinical criteria for the diagnosis of HBOC, and the performance of genetic testing allow for the identification of subjects with <i>BRCA1/2</i> mutations and provide crucial information for clinical and therapeutic management. The identification of a <i>BRCA</i> gene mutation has therapeutic implications for women with metastatic and non-metastatic breast cancer. In the therapeutic setting of <i>BRCA+</i> breast cancer, treatment with poly (ADP-ribose) polymerase (PARP) inhibitors, which keep cancer cells from repairing their damaged DNA and cause cell death, is remarkable. This review summarizes the evidence demonstrating the value of <i>BRCA1/2</i> status as a diagnostic and prognostic tool and as a predictive biomarker in the personalized approach to hereditary <i>BRCA</i> + cancers.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"640-650"},"PeriodicalIF":10.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9836657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"It's in the blood: a review of the hematological system in SARS-CoV-2-associated COVID-19.","authors":"James V Harte, Caroline Coleman-Vaughan, Maeve P Crowley, Vitaliy Mykytiv","doi":"10.1080/10408363.2023.2232010","DOIUrl":"10.1080/10408363.2023.2232010","url":null,"abstract":"<p><p>The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to an unprecedented global healthcare crisis. While SARS-CoV-2-associated COVID-19 affects primarily the respiratory system, patients with COVID-19 frequently develop extrapulmonary manifestations. Notably, changes in the hematological system, including lymphocytopenia, neutrophilia and significant abnormalities of hemostatic markers, were observed early in the pandemic. Hematological manifestations have since been recognized as important parameters in the pathophysiology of SARS-CoV-2 and in the management of patients with COVID-19. In this narrative review, we summarize the state-of-the-art regarding the hematological and hemostatic abnormalities observed in patients with SARS-CoV-2-associated COVID-19, as well as the current understanding of the hematological system in the pathophysiology of acute and chronic SARS-CoV-2-associated COVID-19.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"595-624"},"PeriodicalIF":10.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10132275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laboratory investigation and diagnosis of thrombotic thrombocytopenic purpura.","authors":"Konstantinos Dimopoulos, Armando Tripodi, Jens P Goetze","doi":"10.1080/10408363.2023.2232039","DOIUrl":"10.1080/10408363.2023.2232039","url":null,"abstract":"<p><p>Thrombotic thrombocytopenic purpura (TTP) is a rare and potentially fatal disease for which rapid diagnosis is crucial for patient outcomes. Deficient activity (< 10%) of the liver enzyme, ADAMTS13, is the pathophysiological hallmark of TTP, and measurement of the enzyme activity can establish the diagnosis of TTP with high accuracy. Thus, along with the clinical history, appropriate laboratory assessment of a suspected case of TTP is essential for diagnosis and treatment. Here, we present a review of the available laboratory tests that can assist clinicians in establishing the diagnosis of TTP, with special focus on ADAMTS13 assays, including the measurement of the antigen and activity, and detection of autoantibodies to ADAMTS13.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"625-639"},"PeriodicalIF":10.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9778741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pre-analytical conditions and implementation of quality control steps in liquid biopsy analysis.","authors":"Aliki Ntzifa, Evi Lianidou","doi":"10.1080/10408363.2023.2230290","DOIUrl":"10.1080/10408363.2023.2230290","url":null,"abstract":"<p><p>Over the last decade, great advancements have been made in the field of liquid biopsy through extensive research and the development of new technologies that facilitate the use of liquid biopsy for cancer patients. This is shown by the numerous liquid biopsy tests that gained clearance by the US Food and Drug Administration (FDA) in recent years. Liquid biopsy has significantly altered cancer treatment by providing clinicians with powerful and immediate information about therapeutic decisions. However, the clinical integration of liquid biopsy is still challenging and there are many critical factors to consider prior to its implementation into routine clinical practice. Lack of standardization due to technical challenges and the definition of the clinical utility of specific assays further complicates the establishment of Standard Operating Procedures (SOPs) in liquid biopsy. Harmonization of laboratories to established guidelines is of major importance to overcome inter-lab variabilities observed. Quality control assessment in diagnostic laboratories that offer liquid biopsy testing will ensure that clinicians can base their therapeutic decisions on robust results. The regular participation of laboratories in external quality assessment schemes for liquid biopsy testing aims to promptly pinpoint deficiencies and efficiently educate laboratories to improve their quality of services. Accreditation of liquid biopsy diagnostic laboratories based on the ISO15189 standard in Europe or by CLIA/CAP accreditation procedures in the US is the best way to achieve the adaptation of liquid biopsy into the clinical setting by assuring reliable results for the clinicians and their cancer patients. Nowadays, various organizations from academia, industry, and regulatory agencies collaborate to set a framework that will include all procedures from the pre-analytical phase and the analytical process to the final interpretation of results. In this review, we underline several challenges in the analysis of circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) concerning standardization of protocols, quality control assessment, harmonization of laboratories, and compliance to specific guidelines that need to be thoroughly considered before liquid biopsy enters the clinic.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"573-594"},"PeriodicalIF":10.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9888738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lipoprotein(a): a genetically determined risk factor for Cardiovascular disease.","authors":"Santica M Marcovina","doi":"10.1080/10408363.2023.2229915","DOIUrl":"10.1080/10408363.2023.2229915","url":null,"abstract":"<p><p>Lipoprotein(a) is a complex lipoprotein with unique characteristics distinguishing it from all the other apolipoprotein B-containing lipoprotein particles. Its lipid composition and the presence of a single molecule of apolipoprotein B per particle, render lipoprotein(a) similar to low-density lipoproteins. However, the presence of a unique, carbohydrate-rich protein termed apolipoprotein(a), linked by a covalent bond to apolipoprotein B imparts unique characteristics to lipoprotein(a) distinguishing it from all the other lipoproteins. Apolipoprotein(a) is highly polymorphic in size ranging in molecular weight from <300 KDa to >800 kDa. Both the size polymorphism and the concentration of lipoprotein(a) in plasma are genetically determined and unlike other lipoproteins, plasma concentration is minimally impacted by lifestyle modifications or lipid-lowering drugs. Many studies involving hundreds of thousands of individuals have provided strong evidence that elevated lipoprotein(a) is genetically determined and a causal risk factor for atherosclerotic cardiovascular disease. The concentration attained in adulthood is already present in children at around 5 years of age and therefore, those with elevated lipoprotein(a) are prematurely exposed to a high risk of cardiovascular disease. Despite the large number of guidelines and consensus statements on the management of lipoprotein(a) in atherosclerotic cardiovascular disease published in the last decade, lipoprotein(a) is still seldom measured in clinical settings. In this review, we provide an overview of the most important features that characterize lipoprotein(a), its role in cardiovascular disease, and the importance of adding the measurement of lipoprotein(a) for screening adults and youths to identify those at increased risk of atherosclerotic cardiovascular disease due to their elevated plasma concentration of lipoprotein(a).</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"560-572"},"PeriodicalIF":10.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10155004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in internal quality control.","authors":"Tze Ping Loh,&nbsp;Chun Yee Lim,&nbsp;Sunil Kumar Sethi,&nbsp;Rui Zhen Tan,&nbsp;Corey Markus","doi":"10.1080/10408363.2023.2209174","DOIUrl":"10.1080/10408363.2023.2209174","url":null,"abstract":"<p><p>Quality control practices in the modern laboratory are the result of significant advances over the many years of the profession. Major advance in conventional internal quality control has undergone a philosophical shift from a focus solely on the statistical assessment of the probability of error identification to more recent thinking on the capability of the measurement procedure (e.g. sigma metrics), and most recently, the risk of harm to the patient (the probability of patient results being affected by an error or the number of patient results with unacceptable analytical quality). Nonetheless, conventional internal quality control strategies still face significant limitations, such as the lack of (proven) commutability of the material with patient samples, the frequency of episodic testing, and the impact of operational and financial costs, that cannot be overcome by statistical advances. In contrast, patient-based quality control has seen significant developments including algorithms that improve the detection of specific errors, parameter optimization approaches, systematic validation protocols, and advanced algorithms that require very low numbers of patient results while retaining sensitive error detection. Patient-based quality control will continue to improve with the development of new algorithms that reduce biological noise and improve analytical error detection. Patient-based quality control provides continuous and commutable information about the measurement procedure that cannot be easily replicated by conventional internal quality control. Most importantly, the use of patient-based quality control helps laboratories to improve their appreciation of the clinical impact of the laboratory results produced, bringing them closer to the patients.Laboratories are encouraged to implement patient-based quality control processes to overcome the limitations of conventional internal quality control practices. Regulatory changes to recognize the capability of patient-based quality approaches, as well as laboratory informatics advances, are required for this tool to be adopted more widely.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"502-517"},"PeriodicalIF":10.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9847932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}