A profile on the Synovasure Alpha Defensin Test for the detection of periprosthetic infections.
Authors: Senneville E, Robineau O, Loiez C, de Saint Vincent B, Dartus J, Migaud H Abstract INTRODUCTION: Clinicians have waited a long time for a "universal" marker that may help them distinguish infected from non-infected total joint arthroplasties when doubts persist after using classical clinical and biological signs of infection. In recent years, synovial fluid biomarkers including leukocyte esterase, alpha-defensins, and CRP have shown promising results for the diagnosis of periprosthetic joint infections (PJIs). AREAS COVERED: This review provides an overview of the rational and the use of the ...
Source: Expert Review of Molecular Diagnostics - July 16, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Improving genetic diagnostics of skeletal muscle channelopathies.
Authors: Vivekanandam V, Männikkö R, Matthews E, Hanna MG Abstract INTRODUCTION: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk. Improved genetic methodology and understanding of phenotypes have improved diagnostic accuracy and yield. AREAS COVERED: We discuss diagnostic advances since the advent of next-generation sequencing and the role of whole exome and genome sequencing. Advances in genotype-phenotype-functional correlations have improved understanding of inheritance and phenotypes. W...
Source: Expert Review of Molecular Diagnostics - July 14, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Alpha-Gal Syndrome: challenges to understanding sensitization and clinical reactions to alpha-gal.
Authors: de la Fuente J, Cabezas-Cruz A, Pacheco I Abstract INTRODUCTION: The α-Gal syndrome (AGS) is a type of allergy characterized by an IgE antibody response against the carbohydrate Galα1-3Galβ1-4GlcNAc-R (α-Gal). Tick bites are recognized as the most important cause of anti-α-Gal IgE antibody increase in humans. Several risk factors have been associated with the development of AGS, but their integration into a standardized disease diagnosis has proven challenging. AREAS COVERED: Herein we discuss the current AGS diagnosis based on anti-α-Gal IgE titers and propose an alg...
Source: Expert Review of Molecular Diagnostics - July 7, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

A profile of the GenePOC Carba assay for the detection and differentiation of gene sequences associated with carbapenem-non-susceptibility.
Authors: Lucena Baeza L, Hamprecht A Abstract The novel GenePOC/Revogene Carba C assay (GenePOC, Québec, Canada; now Meridian Bioscience, Cincinnati, OH, USA) is a CE-IVD marked, FDA-approved qualitative in vitro diagnostic test for the detection of genes associated with carbapenem-non-susceptibility. Colonies of Enterobacterales can be directly tested without prior DNA isolation. The test consists of a fluorescent-based real-time PCR assay that runs on the centripetal microfluidic revogene platform, providing results within 70 minutes. The assay was evaluated in two studies comprising a total of 294 molecu...
Source: Expert Review of Molecular Diagnostics - June 24, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Incorporating traditional and emerging biomarkers in the clinical management of metastatic colorectal cancer: an update.
Authors: Baraibar I, Ros J, Mulet N, Salvà F, Argilés G, Martini G, Cuadra JL, Sardo E, Ciardiello D, Tabernero J, Élez E Abstract INTRODUCTION: Molecular profiling has led to significantly longer survival in metastatic colorectal cancer (mCRC) patients. Clinical guidelines recommend testing for KRAS/NRAS, BRAF and MSI status, and new biomarkers such as HER2 amplification and NTRK fusions have emerged more recently in refractory CRC, supported by overwhelming clinical relevance. These biomarkers can guide treatment management to improve clinical outcomes in these patients. AREAS COVERED: Pr...
Source: Expert Review of Molecular Diagnostics - June 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

An overview of current and emerging diagnostic, staging and prognostic markers for prostate cancer.
Authors: Brönimann S, Pradere B, Karakiewicz P, Abufaraj M, Briganti A, Shariat SF Abstract Introduction This manuscript aims to give an overview of current diagnostic, staging and prognostic markers for prostate cancer (PCa) and discuss emerging approaches. The widespread use of PSA for early detection led to improved survival but at the cost of over-diagnosis, often associated with over-treatment and its adverse events. There is thus an unmet need for new markers to sustainably improve the diagnosis and risk assessment, thereby providing a more accurate treatment decision for each individual patient. Areas c...
Source: Expert Review of Molecular Diagnostics - June 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Is There Any Correlation Among MKK4 ('Mitogen-activated protein kinase kinase 4') Expression, Clinicopathological Features & KRAS / NRAS mutation in Colorectal Cancer.
CONCLUSION: MKK4 expression inversely correlates with survival outcomes. Patients with KRAS/NRAS wild-type, left-sided tumors with WIR had longer OS. PMID: 32552144 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - June 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Imaging challenges following newer treatment options: Are companion diagnostics required in neurooncology?
Authors: Galldiks N, Lohmann P, Langen KJ PMID: 32552245 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - June 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Enumeration and molecular characterization of circulating tumor cells as an innovative tool for companion diagnostics in breast cancer.
Authors: Harigopal M, Kowalski D, Vosoughi A Abstract INTRODUCTIO: n: Circulating tumor cells (CTC) and more recently, CTC clusters are implicated as a fundamental mechanism by which tumor cells break away from the primary site and travel to distant sites. Enumeration of CTC and CTC clusters represents a new approach to prognosis, prediction, and response to therapy in patients with early and metastatic breast cancer. Several recent studies have shown the predictive importance of monitoring CTCs levels in progression-free and overall survival in breast cancer patients. This review will focus on CTC enumeration and ...
Source: Expert Review of Molecular Diagnostics - June 19, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Food allergy severity predictions based on cellular in vitro tests.
Authors: Buyuktiryaki B, Santos AF Abstract INTRODUCTION: Food allergy is increasing in prevalence and the severity of allergic reactions is unpredictable. Identifying food allergic patients at high risk of severe reactions would allow us to offer a personalized and improved management for these patients. AREAS COVERED: We review the evidence for using the levels of specific IgE, the nature of the allergen and the use of cellular tests to identify patients at high-risk of developing severe allergic reactions to foods. EXPERT OPINION: The evidence about whether the quantity of allergen-specific IgE reflects ...
Source: Expert Review of Molecular Diagnostics - June 17, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Molecular analysis of the destruction of articular joint tissues by Raman spectroscopy.
Authors: Casal-Beiroa P, González P, Blanco FJ, Magalhães J Abstract INTRODUCTION: Osteoarthritis (OA) is a highly heterogenous disease influenced by different molecular, anatomic and physiologic imbalances. Some of the bottlenecks for enhanced diagnosis and therapeutic assessment are the lack of validated biomarkers and early diagnosis tools. In this narrative review, we analyze the potential of Raman spectroscopy (RS) as a label-free optical tool for the characterization of articular joint tissues and its application as a diagnosis tool for OA. AREAS COVERED: Raman spectra produce a unique "...
Source: Expert Review of Molecular Diagnostics - June 17, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Role of artificial intelligence and vibrational spectroscopy in cancer diagnostics.
In this report, these aspects are being outlined by using breast cancer as a specific example. Expert opinion: A pathway showing to combine vibrational spectroscopy with AI and ML has immense potential in predicting various stages of different disease processes, in particular, in cancer diagnosis, staging and designing treatment. This will result in improved patient care pathways. PMID: 32544359 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - June 17, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The value of biomarker-guided antibiotic therapy.
Authors: Haag E, Molitor A, Gregoriano C, Müller B, Schuetz P Abstract INTRODUCTION: There is an increasing interest to individualize patient management and decisions regarding antibiotic treatment. Biomarkers may provide relevant information for this purpose. AREAS COVERED: Despite a growing number of clinical trials investigating several biomarkers there remain open questions regarding best type of biomarker, timing or frequency of testing and optimal cut-offs among others. The most promising results in regard to diagnosis of bacterial infection and therapy monitoring are found for procalcitonin (PCT), a...
Source: Expert Review of Molecular Diagnostics - June 14, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Advances in tissue-based imaging: impact on oncology research and clinical practice.
Authors: Rahman A, Jahangir C, Lynch SM, Alattar N, Aura C, Russell N, Lanigan F, Gallagher WM Abstract INTRODUCTION: Tissue-based imaging has emerged as a critical tool in translational cancer research and is rapidly gaining traction within a clinical context. Significant progress has been made in the digital pathology arena, particularly in respect of brightfield and fluorescent imaging. Critically, the cellular context of molecular alterations occurring at DNA, RNA, or protein level within tumor tissue is now being more fully appreciated. Moreover, the emergence of novel multi-marker imaging approaches can now p...
Source: Expert Review of Molecular Diagnostics - June 10, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Endocrine fibroblast growth factors as potential biomarkers for chronic kidney disease.
Authors: Kondo Y, Komaba H, Fukagawa M Abstract INTRODUCTION: Among the family of fibroblast growth factors (FGFs), FGF19, FGF21, and FGF23 act as circulating hormones and are called endocrine FGFs. FGF19 and FGF21 regulate bile acid and energy homeostasis, respectively, whereas FGF23 regulates vitamin D and phosphate homeostasis. Accumulating evidence suggests that FGF23 plays a critical role in disturbed mineral metabolisms, left ventricular hypertrophy, immunosuppression, inflammation, among others in patients with chronic kidney disease (CKD), highlighting the potential both as a biomarker and a therapeutic tar...
Source: Expert Review of Molecular Diagnostics - June 10, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Liquid biopsy markers for stroke diagnosis.
Authors: Wijerathne H, Witek MA, Baird AE, Soper SA Abstract INTRODUCTION: There is a short time window (4.5 h) for the effective treatment of acute ischemic stroke (AIS), which uses recombinant tissue plasminogen activator (rt-PA). Unfortunately, this short therapeutic timeframe is a contributing factor to the relatively small number of patients (~7%) that receive rt-PA. While neuroimaging is the major diagnostic for AIS, more timely decisions could be made using a molecular diagnostic. AREAS COVERED: In this review, we survey neuroimaging techniques used to diagnose stroke and their limitations. We also highl...
Source: Expert Review of Molecular Diagnostics - June 7, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Point-by-point progress: gonorrhea point of care tests.
Authors: Gaydos C, Melendez JH Abstract INTRODUCTION: Point-of-care (POC) tests for Neisseria gonorrhoeae (Ng) are urgently needed to control the gonorrhea epidemic, so patients can receive immediate diagnoses and treatment. While the advent of nucleic acid amplification tests (NAATs) have improved the accuracy of Ng identification, very few POC assays are able to provide results of such tests at the clinical visit. Additionally, antimicrobial resistance (AMR) presents a unique treatment challenge for NG. AREAS COVERED: This review notes that older POC tests have lower sensitivity for Ng, compared to the curren...
Source: Expert Review of Molecular Diagnostics - June 7, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Common mutations of interest for the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
Authors: Perrone B, Conforti FL Abstract INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease predominantly affecting upper and lower motor neurons. Diagnosis of this devastating pathology is very difficult because the high degree of clinical heterogeneity with which it occurs and until now, no truly effective treatment exists. Areas covered: Molecular diagnosis may be a valuable tool for dissecting out ALS complex heterogeneity and for identifying new molecular mechanisms underlying the characteristic selective degeneration and death of motor neurons. To date, pathogenic variant...
Source: Expert Review of Molecular Diagnostics - June 6, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Cystatin C as a biomarker of chronic kidney disease: latest developments.
Authors: Benoit SW, Ciccia EA, Devarajan P Abstract INTRODUCTION: Chronic kidney disease (CKD) is common, occurring in over 10% of individuals globally, and is increasing in prevalence. The limitations of traditional biomarkers of renal dysfunction, such as serum creatinine, have been well demonstrated in the literature. Therefore, augmenting clinical assessment with newer biomarkers, such as serum cystatin C, has the potential to improve disease monitoring and patient care. AREAS COVERED: The present paper assesses the utility and limitations of serum cystatin C as a biomarker for CKD in light of the current l...
Source: Expert Review of Molecular Diagnostics - May 27, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Spectroscopy as a tool for detection and monitoring of Corona Virus (COVID-19).
Authors: Khan RS, Rehman IU PMID: 32378969 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - May 8, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Companion and complementary diagnostics: an important treatment decision tool in precision medicine.
Authors: Jørgensen JT PMID: 32342707 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - April 30, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Challenges in the clinical implementation of precision medicine companion diagnostics.
Authors: Keeling P, Clark J, Finucane S Abstract Introduction: The pace of biomarker discovery has increased exponentially over the last few years, ushering in an era of precision medicine (PM) with a growing arsenal of treatments tailored to specific patient populations. To accurately identify patients, companion diagnostics (CDx) are developed and launched alongside these treatments. However, even with a timely launch of therapies and CDx tests, patients are not guaranteed optimal access to these tests because of the inefficiencies embedded within the clinical diagnostic testing landscape supporting PM.Areas cove...
Source: Expert Review of Molecular Diagnostics - April 28, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

A CNN-aided method to predict glaucoma progression using DARC (Detection of Apoptosing Retinal Cells).
We describe here an automatic method of DARC spot detection which was developed using a CNN which was trained and tested on the control cohort of subjects in the Phase 2 DARC trial. The CNN algorithm was found to have a 97.0% accuracy, 91.1% sensitivity and 97.1% specificity to spot detection when compared to manual grading of 50% controls.Subsequently, the CNN algorithm was tested on glaucoma patients in the trial, using gold standard optical coherence tomography (OCT) global rates of progression (retinal nerve fibre layer at 3.5 ring) eighteen months after their assessment with DARC. Those patients with a significant (p
Source: Expert Review of Molecular Diagnostics - April 21, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Real-time RT-PCR in COVID-19 detection: issues affecting the results.
Authors: Tahamtan A, Ardebili A PMID: 32297805 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - April 18, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Bladder neoplasms and NF- κB: an unfathomed association.
Bladder neoplasms and NF-κB: an unfathomed association. Expert Rev Mol Diagn. 2020 Mar 31;: Authors: Jebaraj Walter CE, Durairajan S, Periyandavan K, Priya Doss C G, Davis G DJ, Vasanthi A HR, Johnson T, Zayed H Abstract Introduction: Bladder cancer is the second most common genitourinary tract cancer and is often recurrent and/or chemoresistant after tumor resection. Cigarette smoking, exposure to aromatic amines, and chronic infection/inflammation are bladder cancer risk factors. NF-κB is a transcription factor that plays a critical role in normal physiology and bladder cancer. Bladder ca...
Source: Expert Review of Molecular Diagnostics - April 2, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Correction.
Authors: PMID: 32223470 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - April 1, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Saliva as a diagnostic tool for dental caries, periodontal disease and cancer: is there a need for more biomarkers?
Authors: Buzalaf MAR, Ortiz AC, Carvalho TS, Fideles SOM, Araújo TT, Moraes SM, Buzalaf NR, Reis FN Abstract Introduction: A biomarker is a biological indicator of normal or pathogenic processes. Identification of biomarkers is useful for the prevention, diagnosis and prognosis of diseases as well as for monitoring the progression of pathological disorders. Several types of molecules present in biological fluids can act as biomarkers such as DNA, coding and non-coding RNA, lipids, metabolites, proteins and even microbes. In this context, saliva emerges as a useful diagnostic tool for the detection of biomark...
Source: Expert Review of Molecular Diagnostics - April 1, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Update on urine as a biomarker in cancer: a necessary review of an old story.
Authors: Zhang W, Zhang XJ, Chao SY, Chen SJ, Zhang ZJ, Zhao J, Lv YN, Yao JJ, Bai YY Abstract Introduction: Cancer causes thousands of deaths worldwide each year. Therefore, monitoring of health status and the early diagnosis of cancer using noninvasive assays, such as the analysis of molecular biomarkers in urine, is essential. However, effective biomarkers for early diagnosis of cancer have not been established in many types of cancer.Areas covered: In this review, we discuss recent findings with regard to the use of urine composition as a biomarker in eleven types of cancer. We also highlight the use of urine b...
Source: Expert Review of Molecular Diagnostics - March 29, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The potential of circulating exosomal RNA biomarkers in cancer.
Authors: Chu YL, Li H, Ng PLA, Kong ST, Zhang H, Lin Y, Tai WCS, Yu ACS, Yim AKY, Tsang HF, Cho WCS, Wong SCC Abstract Introduction: There are great potentials of using exosomal RNAs (exoRNA) as biomarkers in cancers. The isolation of exoRNA requires the use of ultracentrifugation to isolate cell-free RNA followed by detection using real-time PCR, microarray, next-generation sequencing or Nano-String nCounter system. The use of exoRNA enrichment panels have largely increased the detection sensitivity and specificity when compared to traditional diagnostic tests. Moreover, using exoRNA as biomarkers can assist the e...
Source: Expert Review of Molecular Diagnostics - March 21, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Is there a role for microRNAs in epilepsy diagnostics?
Authors: Bauer S, Schütz V, Strzelczyk A, Rosenow F Abstract INTRODUCTION: Epilepsy is a disease group that encompasses numerous brain pathologies, all leading to spontaneous seizures. Several diagnostic needs in the area of epilepsy diagnostics remain unmet. MicroRNAs (miRNAs) have emerged as potential biomarkers of disease.Areas covered: We review clinical trials in epilepsy patients that investigated circulating miRNAs (CmiRNAs) as diagnostic biomarkers.Expert opinion: The surveyed trial results are highly discordant and do not confidently support the identification of definite diagnostic biomarkers yet. Im...
Source: Expert Review of Molecular Diagnostics - March 21, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Advances in quantitative immunohistochemistry and their contribution to breast cancer.
Authors: Yaghoobi V, Martinez-Morilla S, Liu Y, Charette L, Rimm DL, Harigopal M Abstract Introduction: Automated image analysis provides an objective, quantitative and reproducible method of measurement of biomarkers. Image quantification is particularly well suited for the analysis of tissue microarrays which has played a major pivotal role in the rapid assessment of molecular biomarkers. Data acquired from grinding up bulk tissue samples misses spatial information regarding cellular localization, therefore, methods that allow for spatial cell phenotyping at high resolution have proven to be valuable in many biom...
Source: Expert Review of Molecular Diagnostics - March 19, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Update on molecular companion diagnostics - a future in personalized medicine beyond Sanger sequencing.
Authors: Campbell MR Abstract Introduction: The merging of molecular diagnostics with personalized medicine has led to a surge in development of molecular-based companion diagnostics. Companion diagnostics, defined as "a medical device, often an in vitro device, which provides information that is essential for the safe and effective use of a corresponding drug or biological product", are key to the appropriate utilization of several pharmacotherapies; primarily in the area of oncology. Areas Covered: While most molecular companion diagnostics are targeted towards oncology, the potential to multiplex assay...
Source: Expert Review of Molecular Diagnostics - March 15, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

An evaluation of liposome-based diagnostics of pulmonary and extrapulmonary tuberculosis.
Authors: Tandel N, Joseph AZ, Joshi A, Shrama P, Mishra RP, Tyagi RK, Bisen PS Abstract Introduction: Tuberculosis (TB) is still one of the major global health threats and delayed diagnosis or misdiagnosis continues to fuel the global epidemic. The conventional diagnostic approaches have shortcomings that might hinder the process of diagnosis of the disease and ultimately affect the prognosis.Area Covered: We emphasize on the process of the synthesis of liposomes, its physicochemical properties affecting the formulation and their utilization in the field of molecular diagnostics for TB. The review also sheds a ligh...
Source: Expert Review of Molecular Diagnostics - March 12, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

An interview with Dr. Edward Abrahams on Companion and Complementary Diagnostics in the era of Personalised Medicine.
Authors: Abrahams E PMID: 32148107 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - March 11, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Emerging biomarkers in chronic lung allograft dysfunction.
We describe biomarkers presenting in bronchial alveolar lavage (BAL) as well as circulating in peripheral blood, both of which offer an appealing alternative to lung biopsy.Expert Opinion: Development of CLAD involves complex, multiple immune and non-immune mechanisms. Therefore, evaluation of potential CLAD biomarkers serves a dual purpose: clinically, the goal remains early detection and identification of patients at increased risk. Simultaneously, biomarkers offer insight into the different mechanisms involved in the pathophysiology of CLAD, leading to the development of possible interventions. The ultimate goal is the ...
Source: Expert Review of Molecular Diagnostics - March 8, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Urine as a biological modality for colorectal cancer detection.
Authors: Chandrapalan S, Arasaradnam RP Abstract Introduction: The increasing incidence of colorectal cancer (CRC) in young adults warrants early and preferably non-invasive diagnostic modalities. Although the current stool-based assays have had good performance indicators for CRC detection, the overall poor uptake remains a challenging issue. However, alternative blood and urine markers are emerging.Areas covered: This paper discusses the various urinary biomarkers available for the detection of CRC. The more commonly encountered drawbacks are the small number of studies and size of the study population. We discus...
Source: Expert Review of Molecular Diagnostics - March 6, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Evolution of approaches to identify melanoma missing heritability.
Authors: Dalmasso B, Ghiorzo P Abstract Introduction: Around 10% of melanoma patients have a positive family history of melanoma and/or related cancers. Although a germline pathogenic variant in a high-risk gene can be identified in up to 40% of these patients, the remaining part of melanoma heritability remains largely unexplained.Areas covered: The aim of this review is to provide an overview of the impact that new technologies and new research approaches had and are having on the finding more efficient ways to unravel the missing heritability in melanoma.Expert opinion:High-throughput sequencing technologies hav...
Source: Expert Review of Molecular Diagnostics - March 5, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Loop-mediated isothermal amplification methods for diagnosis of visceral leishmaniasis (kala-azar) - a systematic review.
Authors: Silva Nunes Bezerra G, Barbosa Júnior WL, Virgínia Batista Vieira A, Xavier AT, Sebastião da Costa Lima Júnior M, Maria Xavier E, Silva EDD, Cintra Leal N, Medeiros ZM Abstract Introduction: Visceral leishmaniasis (VL) is a life-threatening infection remaining as one of the most neglected tropical diseases around the world. Despite scientific advances, an accurate diagnosis of VL remains a challenge. Loop-mediated isothermal amplification (LAMP) has emerged as a promising diagnostic tool with the possibility of becoming a point-of-care test to guide VL diagnosis and treatment.Ar...
Source: Expert Review of Molecular Diagnostics - March 4, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Investigating lubricin and known cartilage-based biomarkers of osteoarthritis.
Authors: Ravalli S, Szychlinska MA, Lauretta G, Di Rosa M, Musumeci G Abstract Introduction: Osteoarthritis (OA) is a degenerative disease which primarily affects hyaline cartilage, leading to pain, stiffness and loss of mobility of the entire articulation. Diagnosis is commonly based on symptoms and radiographs, but there is a growing interest in detecting novel biomarkers, in serum, urine and synovial fluid, which can be predictors of disease onset and progression.Areas covered: This review provides an overview of the main biomarkers currently used in OA clinical practice, with a focus on lubricin, a surface glyc...
Source: Expert Review of Molecular Diagnostics - February 24, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Correction.
Authors: PMID: 32075449 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - February 23, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Regulatory perspectives on next-generation sequencing and complementary diagnostics in Japan.
Authors: Shimazawa R, Ikeda M Abstract Introduction: The 'one biomarker/one drug' scenario is unsustainable because cancer is a complex disorder that involves a number of molecular defects. In the past decade, major technological advances have lowered the overall cost and increased the efficiency of next-generation sequencing (NGS).Areas covered: We review recent regulations on NGS and complementary diagnostics in Japan, mainly focusing on high-quality studies that utilized these new diagnostic modalities and were published within the last 5 years. We highlight significant changes in regulation, and explain th...
Source: Expert Review of Molecular Diagnostics - February 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The path to biomarker-based diagnostic criteria for the spectrum of neurodegenerative diseases.
Authors: Baldacci F, Mazzucchi S, Della Vecchia A, Giampietri L, Giannini N, Maya KH, Ceravolo R, Siciliano G, Bonuccelli U, Elahi FM, Vergallo A, Lista S, Giorgi FS, Hampel H Abstract Introduction: The post-mortem examination still represents the reference standard for detecting the pathological nature of chronic neurodegenerative diseases (NDD). This approach displays intrinsic conceptual limitations since NDD represent a dynamic spectrum of partially overlapping phenotypes, shared pathomechanistic alterations that often give rise to mixed pathologies.Areas covered: We scrutinized the international clinical diagn...
Source: Expert Review of Molecular Diagnostics - February 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Molecular analysis of FMR1 alleles for fragile X syndrome diagnosis and patient stratification.
Authors: Kumari D, Usdin K PMID: 32067539 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - February 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Exosomal biomarkers for cancer diagnosis and patient monitoring.
Authors: Makler A, Asghar W Abstract Introduction: Current methods for diagnosing cancer can be invasive and costly. In recent years, extensive research has been conducted on using exosomes as biomarkers for cancer detection. Exosomes are 40-150 nm-sized extracellular vesicles released by all cell types, including tumor cells. Exosomes are stable in body fluids due to their lipid bilayer member and often contain DNA, RNA, and proteins. These exosomes can be harvested from blood, plasma, serum, urine or saliva and analyzed for tumor-relevant mutations. Thus, providing an alternative to current methods of tumor detec...
Source: Expert Review of Molecular Diagnostics - February 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Prognostic and therapeutic molecular markers in the clinical management of esophageal cancer.
Authors: Zhou N, Hofstetter WL Abstract INTRODUCTION: Esophageal cancer is a deadly disease with high mortality. Treatment with chemotherapy, radiation, and surgery continues to leave many patients with disease progression and recurrence. Novel treatments are needed for this patient population. The development of molecular markers are important for identifying therapeutic targets, as well as prognosis.Areas covered:This review evaluates three molecular markers in esophageal cancer: HER2, PD-L1, and MSI. The fundamentals of these markers, diagnosis, and rates of occurrence in esophageal cancer are explored. The prog...
Source: Expert Review of Molecular Diagnostics - February 20, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing.
Authors: Campbell MR Abstract Introduction: Monogenic diabetes is a subset of diabetes characterized by the presence of single-gene mutations and includes neonatal diabetes mellitus and maturity-onset diabetes of the young. Due to the genetic etiology of monogenic diabetes, molecular genetic testing can be used for the diagnosis and classification.Areas Covered: In addition to first-generation molecular analyses, many large clinical laboratories are transitioning to multiplexed next-generation sequencing panels to simultaneously assess patients for several of the most common genetic mutations seen in monogenic diab...
Source: Expert Review of Molecular Diagnostics - February 15, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Clinical, genetic, and brain imaging predictors of risk for bipolar disorder in high-risk individuals.
Authors: Steardo L, Manchia M, Carpiniello B, Pisanu C, Steardo L, Squassina A Abstract Introduction: Early detection and intervention in bipolar disorder (BD) might reduce illness severity, slow its progression, and, in specific cases, even ward off the full-blown disorder. Therefore, identifying at-risk individuals and targeting them promptly before the illness onset is of the utmost importance. In the last decades, there has been a significant effort aimed at identifying genetic and molecular factors able to modulate risk and pharmacological outcomes.Areas covered: We performed a narrative review of articles aim...
Source: Expert Review of Molecular Diagnostics - February 15, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Hevea latex-associated allergies: piecing together the puzzle of the latex IgE reactivity profile.
Authors: Ebo DG, Bridts CH, Rihs HP Abstract INTRODUCTION: IgE-mediated Hevea latex allergy and associated food-allergies constitute a significant health issue with serious consequences of diagnostic error. Hence, there is need for more reliable confirmatory diagnostics.Areas covered: Here, we summarize the major limitations of conventional tests using native extracts and describe how piecing together the IgE reactivity profile can benefit correct diagnosis in difficult cases in whom conventional tests yield equivocal or negative results. A diagnostic algorithm integrating traditional sIgE and component resolved di...
Source: Expert Review of Molecular Diagnostics - February 15, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

A profile on the FoundationFocus CDxBRCA tests.
Authors: Ford L, Wolford JE, Brown SM, Randall LM Abstract Introduction: Poly(ADP-ribose) polymerase (PARP) inhibitors, including rucaparib, are the only targeted class of therapeutics approved for recurrent epithelial ovarian carcinoma with a predictive biomarker. Currently, three different PARP inhibitors are approved for either the treatment of ovarian cancer or maintenance of remission following chemotherapy. The Foundation Focus CDxBRCA is an FDA-cleared next-generation sequencing tumor tissue assay that detects somatic and sometimes germline mutations in BRCA1 and BRCA2 genes.Areas covered: The authors discus...
Source: Expert Review of Molecular Diagnostics - February 8, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Companion and complementary diagnostics for infectious diseases.
Authors: Dailey PJ, Elbeik T, Holodniy M Abstract Introduction: Companion diagnostics (CDx) are important in oncology therapeutic decision-making, but specific regulatory approved CDx for infectious disease treatment are officially lacking. While not approved as CDx, several ID diagnostics are used as CDx. The diagnostics community, manufacturers, and regulatory agencies have made major efforts to ensure that diagnostics for new antimicrobials are available at or near release of new agents.Areas covered: This review highlights the status of Complementary and companion diagnostic (c/CDx) in the infectious disease li...
Source: Expert Review of Molecular Diagnostics - February 8, 2020 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research