Critical reviews in clinical laboratory sciences最新文献

{"title":"Newborn screening of mucopolysaccharidosis type I.","authors":"Alberto B Burlina,&nbsp;Vincenza Gragnaniello","doi":"10.1080/10408363.2021.2021846","DOIUrl":"https://doi.org/10.1080/10408363.2021.2021846","url":null,"abstract":"<p><p>Mucopolysaccharidosis type I (MPS I), a lysosomal storage disease caused by a deficiency of α-L-iduronidase, leads to storage of the glycosaminoglycans, dermatan sulfate and heparan sulfate. Available therapies include enzyme replacement and hematopoietic stem cell transplantation. In the last two decades, newborn screening (NBS) has focused on early identification of the disorder, allowing early intervention and avoiding irreversible manifestations. Techniques developed and optimized for MPS I NBS include tandem mass-spectrometry, digital microfluidics, and glycosaminoglycan quantification. Several pilot studies have been conducted and screening programs have been implemented worldwide. NBS for MPS I has been established in Taiwan, the United States, Brazil, Mexico, and several European countries. All these programs measure α-L-iduronidase enzyme activity in dried blood spots, although there are differences in the analytical strategies employed. Screening algorithms based on published studies are discussed. However, some limitations remain: one is the high rate of false-positive results due to frequent pseudodeficiency alleles, which has been partially solved using post-analytical tools and second-tier tests; another involves the management of infants with late-onset forms or variants of uncertain significance. Nonetheless, the risk-benefit ratio is favorable. Furthermore, long-term follow-up of patients detected by neonatal screening will improve our knowledge of the natural history of the disease and inform better management.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 4","pages":"257-277"},"PeriodicalIF":10.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39827097","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":"Von Willebrand factor and disease: a review for laboratory professionals.","authors":"Neil S Harris,&nbsp;J Peter Pelletier,&nbsp;Maximo J Marin,&nbsp;William E Winter","doi":"10.1080/10408363.2021.2014781","DOIUrl":"https://doi.org/10.1080/10408363.2021.2014781","url":null,"abstract":"<p><p>Given that von Willebrand disease (VWD) is one of the most common bleeding disorders, the diagnosis or the exclusion is essential in the workup of individuals that have unexplained bleeding. For the clinical laboratory, the challenge is highlighted by the variable presentations of this disorder and the multiple assays that are available from different vendors. This review will give a brief overview of primary hemostasis with a detailed explanation of the biosynthesis, structure, and mechanics of von Willebrand factor (VWF). The final sections will focus on the distinguishing characteristics of the different types of VWD and the array of clinical laboratory tests currently available to assist in the diagnosis.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 4","pages":"241-256"},"PeriodicalIF":10.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39770798","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":"Nucleic acid-based electrochemical biosensors for rapid clinical diagnosis: advances, challenges, and opportunities.","authors":"Abu Hashem,&nbsp;M A Motalib Hossain,&nbsp;Ab Rahman Marlinda,&nbsp;Mohammad Al Mamun,&nbsp;Suresh Sagadevan,&nbsp;Zohreh Shahnavaz,&nbsp;Khanom Simarani,&nbsp;Mohd Rafie Johan","doi":"10.1080/10408363.2021.1997898","DOIUrl":"https://doi.org/10.1080/10408363.2021.1997898","url":null,"abstract":"<p><p>Clinical diagnostic tests should be quick, reliable, simple to perform, and affordable for diagnosis and treatment of diseases. In this regard, owing to their novel properties, biosensors have attracted the attention of scientists as well as end-users. They are efficient, stable, and relatively cheap. Biosensors have broad applications in medical diagnosis, including point-of-care (POC) monitoring, forensics, and biomedical research. The electrochemical nucleic acid (NA) biosensor, the latest invention in this field, combines the sensitivity of electroanalytical methods with the inherent bioselectivity of deoxyribonucleic acid (DNA) and ribonucleic acid (RNA). The NA biosensor exploits the affinity of single-stranded DNA/RNA for its complementary strand and is used to detect complementary sequences of NA based on hybridization. After the NA component in the sensor detects the analyte, a catalytic reaction or binding event that generates an electrical signal in the transducer ensues. Since 2000, much progress has been made in this field, but there are still numerous challenges. This critical review describes the advances, challenges, and prospects of NA-based electrochemical biosensors for clinical diagnosis. It includes the basic principles, classification, sensing enhancement strategies, and applications of biosensors as well as their advantages, limitations, and future prospects, and thus it should be useful to academics as well as industry in the improvement and application of EC NA biosensors.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 3","pages":"156-177"},"PeriodicalIF":10.0,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39935252","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":"The molecular structure and biological functions of RNA methylation, with special emphasis on the roles of RNA methylation in autoimmune diseases.","authors":"Wanwan Zhou,&nbsp;Xiao Wang,&nbsp;Jun Chang,&nbsp;Chenglong Cheng,&nbsp;Chenggui Miao","doi":"10.1080/10408363.2021.2002256","DOIUrl":"https://doi.org/10.1080/10408363.2021.2002256","url":null,"abstract":"<p><p>Autoimmune diseases such as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and systemic vasculitis are caused by the body's immune response to autoantigens. The pathogenesis of autoimmune diseases is complex. RNA methylation is known to play a key role in disease progression as it regulates almost all aspects of RNA processing, including RNA nuclear export, translation, splicing, and noncoding RNA processing. This review summarizes the mechanisms, molecular structures of RNA methylations and their roles in biological functions. Similar to the roles of RNA methylation in cancers, RNA methylation in RA and SLE involves \"writers\" that deposit methyl groups to form N6-methyladenosine (m6A) and 5-methylcytosine (m5C), \"erasers\" that remove these modifications, and \"readers\" that further affect mRNA splicing, export, translation, and degradation. Recent advances in detection methods have identified N1-methyladenosine (m1A), N6,2-O-dimethyladenosine (m6Am), and 7-methylguanosine (m7G) RNA modifications, and their roles in RA and SLE need to be further studied. The relationship between RNA methylation and other autoimmune diseases has not been reported, and the roles and mechanisms of RNA modifications in these diseases need to be explored in the future.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 3","pages":"203-218"},"PeriodicalIF":10.0,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39622210","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":"Cardiovascular benefit of SGLT2 inhibitors.","authors":"Reza Mohebi,&nbsp;James L Januzzi","doi":"10.1080/10408363.2021.1993439","DOIUrl":"https://doi.org/10.1080/10408363.2021.1993439","url":null,"abstract":"<p><p>Patients with type 2 diabetes mellitus (T2D) are at increased risk of cardiovascular (CV) disease. Sodium glucose cotransporter 2 (SGLT2) inhibitors, also known as gliflozins, are a class of medications used to treat T2D by preventing the reabsorption of glucose filtered through the kidney and thereby facilitating glucose excretion in the urine. Over the past 5 years, many cardiovascular outcome trials (CVOTs) have evaluated the safety and efficacy of SGLT2 inhibitors in preventing CV events. The results of 7 CVOTs have provided solid evidence that the use of SGLT2 in patients with T2D and at high CV risk significantly reduced the risk of death from CV causes. Moreover, in patient with heart failure with reduced ejection fraction, regardless of the presence or absence of T2D, SGLT2 inhibitors use significantly reduced the risk of worsening heart failure and death from CV causes. Although the exact mechanism of the cardiorenal benefit of SGLT2 inhibitors is still unknown, studies have shown that the beneficial effect of these drugs cannot be exclusively explained by their glucose lowering effect, and several possible mechanisms have been proposed. This review will explore the changing role of SGLT2 inhibitors from a diabetes drug to clinical practice guideline-supported therapy for the prevention and treatment of CV diseases, including heart failure.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 3","pages":"142-155"},"PeriodicalIF":10.0,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39629590","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":"Using a systematic approach to strategic innovation in laboratory medicine to bring about change.","authors":"Deirdre L Church,&nbsp;Christopher Naugler","doi":"10.1080/10408363.2021.1997899","DOIUrl":"https://doi.org/10.1080/10408363.2021.1997899","url":null,"abstract":"<p><p>There is a growing mismatch with regard to demand, supply, and affordability in healthcare systems in developed countries. Innovation is required to address this, but roadmaps for innovation in laboratory medicine are largely lacking. Advances in process and instrument digitization are driving a revolution in medical laboratory practice but changes are not strategically focused on improved patient care. Laboratory services therefore largely remain transactional so that customer access and experience are suboptimal, especially for vulnerable populations. Laboratory medicine must be integrated back into clinical care pathways, thereby transforming services to be more responsive to end-user needs. Healthcare trends show that patients, physicians, and allied healthcare professionals will increasingly dictate what and how services are provided. Laboratories will be pressed to restructure to address these healthcare trends. Since the primary goal of ambulatory practice is to prevent expensive hospital admissions for patients with complex chronic diseases, specific services (e.g. ambulatory clinics, surgeries, deliveries, procedures) that could be safely provided in the community are moving out of acute care hospitals. This review addresses the existing barriers to innovation faced by medical/scientific and managerial services as well as outlines a systematic approach used by other industries to bring about transformative change. Enabling disruptive innovation that improves the clinical and economic effectiveness of laboratory practice is critical to sustain clinically relevant services as an essential cornerstone of patient care within the healthcare systems of developed countries.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 3","pages":"178-202"},"PeriodicalIF":10.0,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39854363","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":"Screening and diagnosis of inherited platelet disorders","authors":"Alex Bourguignon, S. Tasneem, C. Hayward","doi":"10.1080/10408363.2022.2049199","DOIUrl":"https://doi.org/10.1080/10408363.2022.2049199","url":null,"abstract":"Abstract Inherited platelet disorders are important conditions that often manifest with bleeding. These disorders have heterogeneous underlying pathologies. Some are syndromic disorders with non-blood phenotypic features, and others are associated with an increased predisposition to developing myelodysplasia and leukemia. Platelet disorders can present with thrombocytopenia, defects in platelet function, or both. As the underlying pathogenesis of inherited thrombocytopenias and platelet function disorders are quite diverse, their evaluation requires a thorough clinical assessment and specialized diagnostic tests, that often challenge diagnostic laboratories. At present, many of the commonly encountered, non-syndromic platelet disorders do not have a defined molecular cause. Nonetheless, significant progress has been made over the past few decades to improve the diagnostic evaluation of inherited platelet disorders, from the assessment of the bleeding history to improved standardization of light transmission aggregometry, which remains a “gold standard” test of platelet function. Some platelet disorder test findings are highly predictive of a bleeding disorder and some show association to symptoms of prolonged bleeding, surgical bleeding, and wound healing problems. Multiple assays can be required to diagnose common and rare platelet disorders, each requiring control of preanalytical, analytical, and post-analytical variables. The laboratory investigations of platelet disorders include evaluations of platelet counts, size, and morphology by light microscopy; assessments for aggregation defects; tests for dense granule deficiency; analyses of granule constituents and their release; platelet protein analysis by immunofluorescent staining or flow cytometry; tests of platelet procoagulant function; evaluations of platelet ultrastructure; high-throughput sequencing and other molecular diagnostic tests. The focus of this article is to review current methods for the diagnostic assessment of platelet function, with a focus on contemporary, best diagnostic laboratory practices, and relationships between clinical and laboratory findings.","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 1","pages":"405 - 444"},"PeriodicalIF":10.0,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44660216","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":"Oligoclonal bands: clinical utility and interpretation cues","authors":"S. Carta, D. Ferraro, S. Ferrari, C. Briani, S. Mariotto","doi":"10.1080/10408363.2022.2039591","DOIUrl":"https://doi.org/10.1080/10408363.2022.2039591","url":null,"abstract":"Abstract Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS), where they can be detected in > 90% of cases and support its diagnosis, although a specific causative agent inducing B cell activation has not yet been identified. The determination of intrathecal IgM, including IgM/lipid-specific IgM OCBs, on the other hand, seems to be of prognostic relevance and is associated with a more aggressive disease course. OCBs can also be present in other central nervous system (CNS) disorders, including antibody-mediated, inflammatory, infectious, and neurodegenerative conditions, as well as in both chronic and early disease stages, suggesting the occurrence of primary or concomitant immune-mediated processes. Finally, intrathecal humoral immune response can also occur, although rarely, in patients with peripheral neuropathies, particularly in those of inflammatory origin, as a possible consequence of blood-spinal nerve root barrier (BSNRB) damage. Isoelectric focusing (IEF) on agarose gels followed by immunoblotting is the technique recommended for OCB detection, analyzing paired undiluted CSF and serum samples. However, technical issues including blot, staining, and IEF reproducibility as well as operator-dependent pattern interpretations decrease reproducibility, causing misinterpretations of results, with significant diagnostic implications. These technical issues can lead to difficulties in distinguishing between negative results (type 1 pattern = absence of OCBs in serum and CSF and type 4 pattern = presence of identical OCBs in both serum and CSF) and results indicating intrathecal IgG synthesis (pattern 2 = presence of OCBs in CSF and type 3 = presence of OCBs in CSF and additional identical OCBs in both serum and CSF). Corrective measures and identification of specialized laboratories with expertise in the field are fundamental to applying this useful technique in clinical practice. In this context, recent research has focused on the automated assessment of CSF kappa free light Ig chains as a more sensitive, non-operator-dependent marker of intrathecal Ig synthesis. We herein review central and peripheral nervous system conditions associated with OCBs and discuss their relation with pathogenetic mechanisms.","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 1","pages":"391 - 404"},"PeriodicalIF":10.0,"publicationDate":"2022-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49616143","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":"Clinical utility of procalcitonin and its association with pathogenic microorganisms.","authors":"Hua-Guo Xu,&nbsp;Meng Tian,&nbsp;Shi-Yang Pan","doi":"10.1080/10408363.2021.1988047","DOIUrl":"https://doi.org/10.1080/10408363.2021.1988047","url":null,"abstract":"<p><p>In this review, we summarize the relationship of PCT with pathogens, evaluate the clinical utility of PCT in the diagnosis of clinical diseases, condition monitoring and evaluation, and guiding medical decision-making, and explore current knowledge on the mechanisms by which pathogens cause changes in PCT levels. The lipopolysaccharides of the microorganisms stimulate cytokine production in host cells, which in turn stimulates production of serum PCT. Pathogens have different virulence mechanisms that lead to variable host inflammatory responses, and differences in the specific signal transduction pathways result in variable serum PCT concentrations. The mechanisms of signal transduction have not been fully elucidated. Further studies are necessary to ascertain the PCT fluctuation range of each pathogen. PCT levels are helpful in distinguishing between certain pathogens, in deciding if antibiotics are indicated, and in monitoring response to antibiotics.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 2","pages":"93-111"},"PeriodicalIF":10.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39529078","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":"Biomarkers of disease in human nails: a comprehensive review.","authors":"Sarahi Jaramillo Ortiz,&nbsp;Michael Howsam,&nbsp;Elisabeth H van Aken,&nbsp;Joris R Delanghe,&nbsp;Eric Boulanger,&nbsp;Frédéric J Tessier","doi":"10.1080/10408363.2021.1991882","DOIUrl":"https://doi.org/10.1080/10408363.2021.1991882","url":null,"abstract":"<p><p>Diagnostic, monitoring, response, predictive, risk, and prognostic biomarkers of disease are all widely studied, for the most part in biological fluids or tissues, but there is steadily growing interest in alternative matrices such as nails. Here we comprehensively review studies dealing with molecular or elemental biomarkers of disease, as opposed to semiological, pharmacological, toxicological, or biomonitoring studies. Nails have a long history of use in medicine as indicators of pathological processes and have also been used extensively as a matrix for monitoring exposure to environmental pollution. Nail clippings are simple to collect noninvasively as well as to transport and store, and the matrix itself is relatively stable. Nails incorporate, and are influenced by, circulating molecules and elements over their several months of growth, and it is widely held that markers of biological processes will remain in the nail, even when their levels in blood have declined. Nails thus offer the possibility to not only look back into a subject's metabolic history but also to study biomarkers of processes that operate over a longer time scale such as the post-translational modification of proteins. Reports on ungual biomarkers of metabolic and endocrine diseases, cancer, and psychological and neurological disorders will be presented, and an overview of the sampling and analytical techniques provided.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":"59 2","pages":"125-141"},"PeriodicalIF":10.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39850040","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}