Journals Expert Review of Molecular Dia...

Expert Review of Molecular Diagnostics
Rishabh Goyal, Molla M Wassie, Jean Winter, Timothy Jh Lathlean, Graeme P Young, Erin L Symonds
BACKGROUND: Early detection of pre-cancerous adenomas through screening can reduce colorectal cancer (CRC) incidence. Fecal immunochemical tests are commonly used, but have limited sensitivity for pre-cancerous lesions. Blood-based screening may improve test sensitivity. This systematic review and meta-analysis was conducted to evaluate the accuracy of blood-based biomarkers for detection of advanced pre-cancerous lesions. RESEARCH DESIGN AND METHODS: We present the accuracy of blood-based biomarkers for detection of advanced pre-cancerous lesions...
December 4, 2023: Expert Review of Molecular Diagnostics
Eleftheria Kodosaki, Henrik Zetterberg, Amanda Heslegrave
INTRODUCTION: In recent years exciting developments in disease modifying treatments for Alzheimer's disease (AD) have made accurate and timely diagnosis of this disease a priority. Blood biomarkers (BBMs) for amyloid pathology using improved immunoassay and mass spectrometry techniques have been an area of intense research for the last 10 years and are coming to the fore, as a real prospect to be used in the clinical diagnostics of the disease. AREAS COVERED: The following review will update and discuss blood biomarkers that will be most useful in diagnosing AD and the context necessary for their implementation...
November 29, 2023: Expert Review of Molecular Diagnostics
Alex Vicino, Raffaella Brugnoni, Lorenzo Maggi
INTRODUCTION: Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs). AREAS COVERED: SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs...
November 27, 2023: Expert Review of Molecular Diagnostics
Luca Filippi, Luca Urso, Viviana Frantellizzi, Katia Marzo, Maria Cristina Marzola, Orazio Schillaci, Laura Evangelista
INTRODUCTION: Poly-ADP-ribose-polymerase inhibitors (PARPi), which exploit the processes of so-called 'synthetic lethality,' have been successfully implemented in oncological practice. However, not all patients respond to PARPi, and there is an unmet need for noninvasive biomarkers suitable for patient selection and monitoring during PARPi therapy. AREAS COVERED: The first clinical applications of molecular imaging with positron emission tomography/computed tomography (PET/CT) with [18F]-FluorThanatrace ([18F]-FTT) and [18F]-PARPi, highly effective PARP-ligands, in patients with several malignancies, (head and neck, ovarian, prostate and breast cancer) are covered, with a particular focus on its potential for pre-treatment selection and follow-up...
November 27, 2023: Expert Review of Molecular Diagnostics
Claire Andrews, Eibhlin Conneally, Stephen E Langabeer
INTRODUCTION: Myeloproliferative neoplasms (MPN) are a heterogeneous group of clonal hematopoietic stem cell neoplasms characterized by the driver mutations JAK2, CALR, and MPL. These mutations cause constitutive activation of JAK-STAT signaling, which is central to pathogenesis of MPNs. Next-generation sequencing has further expanded the molecular landscape allowing for improved diagnostics, prognostication, and targeted therapy. AREAS COVERED: This review aims to address current understanding of the molecular diagnosis of MPN not only through improved awareness of the driver mutations but also the disease modifying mutations...
November 24, 2023: Expert Review of Molecular Diagnostics
Paola Parente, Federica Grillo, Alessandro Vanoli, Luca Mastracci, Matteo Fassan
No abstract text is available yet for this article.
November 23, 2023: Expert Review of Molecular Diagnostics
Paul Trubin, Marwan Azar
No abstract text is available yet for this article.
November 22, 2023: Expert Review of Molecular Diagnostics
Francesco Salvatore Iaquinta, Felice Rivellese, Costantino Pitzalis
INTRODUCTION: The extensive knowledge gained in the cellular and molecular mechanisms underlying Rheumatoid Arthritis (RA) pathogenesis has led to therapeutic advances. However, up to 10-20% of patients fail to respond to multiple therapeutic agents being classified as multi-drugresistant. A key challenge moving forward will be the implementation of synovial biopsies in clinical practice to facilitate the shift from the current trial-and-error strategy toward new forms of clinical trials...
November 18, 2023: Expert Review of Molecular Diagnostics
Camilla Pereira da Silva, Diego Camuzi, Adriana Helena Deliveira Reis, Andressa Pereira Gonçalves, Jussara Mendonça Dos Santos, Filipe Brum Machado, Enrique Medina-Acosta, Sheila Coelho Soares-Lima, Cíntia Barros Santos-Rebouças
BACKGROUND: Fragile X syndrome (FXS) is primarily due to CGG repeat expansions in the FMR1 gene. FMR1 alleles are classified as normal (N), intermediate (I), premutation (PM), and full mutation (FM). FXS patients often carry an FM, but size mosaicism can occur. Additionally, loss of methylation boundary upstream of repeats results in de novo methylation spreading to FMR1 promoter in FXS patients. RESEARCH DESIGN AND METHODS: This pilot study investigated the methylation boundary and adjacent regions in 66 males with typical and atypical FXS aged 1 to 30 years (10...
November 16, 2023: Expert Review of Molecular Diagnostics
Zacharias Fasoulakis, Aggeliki Kolialexi, Danai Mavreli, Marianna Theodora
No abstract text is available yet for this article.
November 15, 2023: Expert Review of Molecular Diagnostics
Greig Joilin, Majid Hafezparast
No abstract text is available yet for this article.
November 14, 2023: Expert Review of Molecular Diagnostics
Ryouichi Tsunedomi, Yoshitaro Shindo, Masao Nakajima, Kiyoshi Yoshimura, Hiroaki Nagano
INTRODUCTION: Pancreatic cancer (PC) has an extremely poor prognosis, even with surgical resection and triplet chemotherapy treatment. Cancer immunotherapy has been recently approved for tumor-agnostic treatment with genome analysis, including in PC. However, it has limited efficacy. AREAS COVERED: In addition to the low tumor mutation burden, one of the difficulties of immunotherapy in PC is the presence of abundant stromal cells in its microenvironment. Among stromal cells, cancer-associated fibroblasts (CAFs) play a major role in immunotherapy resistance, and CAF-targeted therapies are currently under development, including those in combination with immunotherapies...
November 10, 2023: Expert Review of Molecular Diagnostics
Jan K Nowak, Rahul Kalla, Jack Satsangi
INTRODUCTION: Ulcerative colitis (UC) is a chronic illness requiring lifelong management that could be enhanced by personalizing care using biomarkers. AREAS COVERED: The main biomarker discovery modalities are reviewed, highlighting recent results across the spectrum of applications, including diagnostics (serum anti-αvβ6 antibodies achieving an area under the curve [AUC] = 0.99; serum oncostatin M AUC = 0.94), disease activity assessment (fecal calprotectin and serum trefoil factor 3: AUC > 0...
November 7, 2023: Expert Review of Molecular Diagnostics
Tim Kortlever, Willemijn de Klaver, Manon van der Vlugt, Gerrit Meijer, Evelien Dekker, Patrick Bossuyt
INTRODUCTION: Fecal Immunochemical Testing (FIT) is a central tool in colorectal cancer (CRC) screening. To improve the selection of individuals for colonoscopy, risk models combining FIT with additional CRC risk factors have been developed. This systematic review aims to provide an overview of the current noninvasive FIT-based risk models for CRC screening to facilitate future implementation. METHODS: We performed a systematic literature search for risk models that combined quantitative fecal hemoglobin with clinical data or noninvasive biomarkers, and that were intended for CRC screening...
November 6, 2023: Expert Review of Molecular Diagnostics
Yvonne Couch
INTRODUCTION: The hunt for new biomarkers - for the diagnosis of subcategories of disease, or for the monitoring of the efficacy of novel therapeutics - is an increasingly relevant challenge in the current era of precision medicine. In neurodegenerative research, the aim is to look for simple tools which can predict cognitive or motor decline early, and to determine whether these can also be used to test the efficacy of new interventions. Extracellular vesicles (EVs) are thought to play an important role in intercellular communication and have been shown to play a vital role in a number of diseases...
November 2, 2023: Expert Review of Molecular Diagnostics
Mamadu Baldeh, Flavia K Bawa, Faiza U Bawah, Martin Chamai, Francis Dzabeng, Waleed M A Jebreel, Jean-Bertin B Kabuya, Shola K Molemodile Dele-Olowu, Erick Odoyo, Dimbintsoa Rakotomalala Robinson, Aubrey J Cunnington
INTRODUCTION: Point-of-care molecular diagnostics offer solutions to the limited diagnostic availability and accessibility in resource-limited settings. During the COVID-19 pandemic, molecular diagnostics became essential tools for accurate detection and monitoring of SARS-CoV-2. The unprecedented demand for molecular diagnostics presented challenges and catalyzed innovations which may provide lessons for the future selection of point-of-care molecular diagnostics. AREAS COVERED: We searched PubMed from January 2020-August 2023 to identify lessons learned from the COVID-19 pandemic which may impact the selection of point-of-care molecular diagnostics for future use in sub-Saharan Africa...
October 31, 2023: Expert Review of Molecular Diagnostics
Damiola Francesca, Alberti Laurent, Mansuet-Lupo Audrey, Damotte Diane, Hofman Véronique, Tixier Lucie, Penault-Llorca Fréderique, Rouquette Isabelle, Vignaud Jean Michel, Cazes Aurelie, Forest Fabien, Begueret Hugues, Gibault Laure, Badoual Cécile, Cayre Anne, Taranchon-Clermont Estelle, Duc Adeline, Mc Leer Anne, Lantuejoul Sylvie
BACKGROUND: ALK, ROS1 and RET rearrangements occur respectively in 5%, 2% and 1% non-small cell lung cancers (NSCLC). ALK and ROS1 fusion proteins detection by immunohistochemistry (IHC) has been validated for rapid patient screening, but ROS1 fusions need to be confirmed by another technique and no RET IHC test is available for clinical use. RESEARCH DESIGN AND METHODS: We report herein the usefulness of the HTG EdgeSeq Assay, an RNA extraction-free test combining a quantitative nuclease protection assay with NGS, for the detection of ALK, ROS1 and RET fusions from 'real-life' small NSCLC samples...
October 31, 2023: Expert Review of Molecular Diagnostics
Jianhua Gu, Feifan He, Gary M Clifford, Minjuan Li, Zhiyuan Fan, Xinqing Li, Shaoming Wang, Wenqiang Wei
INTRODUCTION: The present study aimed to provide pooled, updated estimates of the strength of the association between Helicobacter pylori ( H. pylori ) infection and gastric cancer (GC) development. METHODS: We searched PubMed, Embase, and Cochrane Library from 1990 to December 2021 to identify prospective studies, i.e. nested case-control or case-cohort studies. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were summarized to validate the relationship between H...
October 31, 2023: Expert Review of Molecular Diagnostics
Lorenzo Gaetani, Davide Chiasserini, Federico Paolini Paoletti, Giovanni Bellomo, Lucilla Parnetti
INTRODUCTION: Cerebrospinal fluid (CSF) biomarkers represent a well-established tool for diagnosing Alzheimer's disease (AD), independently from the clinical stage, by reflecting the presence of brain amyloidosis (A+) and tauopathy (T+). In front of this important achievement, so far, (i) CSF AD biomarkers have not yet been adopted for routine clinical use in all Centers dedicated to AD, mainly due to inter-lab variation and lack of internationally accepted cutoff values; (ii) we do need to add other biomarkers more suitable to correlate with the clinical stage and disease monitoring; (iii) we also need to detect the co-presence of other 'non-AD' pathologies...
October 30, 2023: Expert Review of Molecular Diagnostics
Lu Tang, Qing-Mei Liu, Shuang Zhang, Jun Zhou
BACKGROUND: Previous studies have shown that the differential expression of lncRNA NR2F1-AS1 is closely related to the prognosis of cancer, but the conclusion is still controversial. Therefore, we conducted a meta-analysis and bioinformatics analysis to explore the correlation between LncRNA NR2F1-AS1 and cancer prognosis. METHODS: From the beginning to 25 January 2023, we searched for correlational studies on PubMed, Embase, the Cochrane Library, and Web of Science...
October 30, 2023: Expert Review of Molecular Diagnostics
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