journal
MENU ▼
Read by QxMD icon Read
search

Expert Review of Molecular Diagnostics

journal
https://www.readbyqxmd.com/read/29039978/preimplantation-genetic-testing-current-challenges-and-future-prospects
#1
Anver Kuliev, Svetlana Rechitsky
Preimplantation genetic testing (PGT) is now a widely applied procedure in genetic practices and ART, with more than one third of ART Centers in US already utilizing PGT technology. Its indications have also been significantly extended to include common late-onset disorders and non-genetic conditions, such as testing for HLA match. Areas covered: This is a critical review of the developments in PGT, with emphasis on their outstanding limitations and directions for the future research and practice in the area of PGT...
October 17, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29034791/point-of-care-testing-in-the-pharmacy-how-is-the-field-evolving
#2
Donald G Klepser, Michael E Klepser
No abstract text is available yet for this article.
October 16, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29032709/putative-predictors-of-efficacy-for-immune-checkpoint-inhibitors-in-non-small-cell-lung-cancer-facing-the-complexity-of-the-immune-system
#3
Giulia Grizzi, Mario Caccese, Anastasios Gkountakos, Luisa Carbognin, Giampaolo Tortora, Emilio Bria, Sara Pilotto
In non-small-cell lung cancer (NSCLC) the recent introduction of immunotherapy in daily clinical practice produced a wave of enthusiasm, however, this was rapidly moderated by the evidence that only some patients could experience a relevant clinical benefit. Therefore, a great effort from the scientific community has been dedicated to the identification and validation of reliable biomarkers able to drive the activity of immunotherapeutic agents. Areas covered. This analysis aims to review the main findings about predictive biomarkers for immunotherapy in lung cancer, retracing the history of PD-L1 and focusing on a series of innovative candidates, such as mutational load, immune cells populations and microbiome...
October 14, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28945154/the-clinical-implications-of-molecular-monitoring-and-analyses-of-inherited-retinal-diseases
#4
Oscar F Chacón-Camacho, Leopoldo A García-Montaño, Juan C Zenteno
Retinal dystrophies (RDs) are the most common cause of inherited blindness and one of the most genetically heterogeneous human diseases. RDs arise from mutations in genes involved in development and function of photoreceptors or other retinal cells. Identification of the genetic defect causing RD allows accurate diagnosis, prognosis, and counseling in affected patients. Molecular diagnosis is a tremendous challenge in RDs due to their locus and phenotypic heterogeneity. As conventional DNA sequencing approaches are impractical in such situation, Next Generation Sequencing (NGS)-based protocols are needed to identify RD-causing mutations...
October 5, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28965426/implementation-of-antimicrobial-peptides-for-sample-preparation-prior-to-nucleic-acid-amplification-in-point-of-care-settings
#5
Katrin Krõlov, Julia Uusna, Tiia Grellier, Liis Andresen, Jekaterina Jevtuševskaja, Indrek Tulp, Ülo Langel
OBJECTIVES: A variety of sample preparation techniques are used prior to nucleic acid amplification. However, their efficiency is not always sufficient and nucleic acid purification remains the preferred method for template preparation. Purification is difficult and costly to apply in point-of-care (POC) settings and there is a strong need for more robust, rapid, and efficient biological sample preparation techniques in molecular diagnostics. METHODS: Here, the authors applied antimicrobial peptides (AMPs) for urine sample preparation prior to isothermal loop-mediated amplification (LAMP)...
October 2, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28954554/circulating-tumor-dna-as-a-biomarker-to-guide-therapy-in-post-operative-locally-advanced-rectal-cancer-the-best-option
#6
Jeanne Tie, Christine Semira, Peter Gibbs
No abstract text is available yet for this article.
September 28, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28952822/recent-advances-in-the-molecular-diagnosis-of-polycystic-kidney-disease
#7
Carsten Bergmann
Polycystic kidney disease (PKD) is clinically and genetically heterogeneous and constitutes the most common heritable kidney disease. The majority of patients are affected by the autosomal dominant form (ADPKD) which generally is an adult-onset multisystem disorder. By contrast, the rarer recessive form ARPKD usually already manifests perinatally or in childhood. In some patients ADPKD and ARPKD can phenotypically overlap with early manifestation in ADPKD and only late onset in ARPKD. Progressive fibrocystic renal changes are often accompanied by severe hepatobiliary changes or other extrarenal abnormalities...
September 27, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28930482/diagnostic-and-prognostic-cytogenetics-of-chronic-myeloid-leukaemia-an-update
#8
Matteo Molica, Fulvio Massaro, Massimo Breccia
Despite the advent of molecular assessment, banding cytogenetics and fluorescence in situ hybridization (FISH) still have a significant role in diagnostic and prognostic approaches to chronic myeloid leukaemia (CML). Area covered: At diagnosis and during treatment with tyrosine kinase inhibitors (TKIs), cytogenetics is used to detect the Philadelphia chromosome, with its typical translocation t(9;22)(q34;q11.2), and any additional or other chromosomal aberrations (ACAs and OCAs) that may arise in 5-10% of cases, the latter associated to transformation of the disease in blast phases...
September 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28927305/discovery-and-application-of-immune-biomarkers-for-hematological-malignancies
#9
Dimitrios Zafeiris, Jayakumar Vadakekolathu, Sarah Wagner, Alan Graham Pockley, Graham Roy Ball, Sergio Rutella
Hematological malignancies originate and progress in primary and secondary lymphoid organs, where they establish a uniquely immune-suppressive tumour microenvironment. Although high-throughput transcriptomic and proteomic approaches are being employed to interrogate immune surveillance and escape mechanisms in patients with solid tumours, and to identify actionable targets for immunotherapy, our knowledge of the immunological landscape of hematological malignancies, as well as our understanding of the molecular circuits that underpin the establishment of immune tolerance, is not comprehensive...
September 25, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28937839/tza-a-novel-assay-for-measuring-the-latent-hiv-1-reservoir
#10
Phalguni Gupta, Anwesha Sanyal, Robbie B Mailliard
No abstract text is available yet for this article.
September 22, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28931314/the-diagnostic-potential-of-mutation-detection-from-single-circulating-tumor-cells-in-cancer-patients
#11
Francesca Salvianti, Pamela Pinzani
Circulating tumor cells (CTCs) have gained importance in the oncology field as biomarkers of tumor development. The most relevant observation that emerged from the recent studies on CTCs is their heterogeneity, which can be investigated by new technologies for single cell analysis. Areas covered: This review considers the most recent advances (limited to the last two years) in the mutational analysis of single CTCs with a critical point of view on the technical challenges still to be faced and the steps needed to reach a standardization of the procedures able to translate these new approaches into clinical practice...
September 22, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28920498/an-update-on-biomarker-discovery-and-use-in-axial-spondyloarthritis
#12
Walter P Maksymowych
Evaluation of diagnosis, disease activity, and risk for joint damage all represent important unmet clinical needs in the management of axial spondyloarthritis that have been explored using biomarkers. Areas covered: This review used the search terms biomarkers, ankylosing spondylitis, spondyloarthritis, spondyloarthropathy, pathogenesis, genetics, diagnostic tools, prognosis, to explore advances in biomarker development relevant to unmet clinical needs. Expert commentary: Despite major advances in the identification of genetic risk markers, HLA-B*27 remains the only marker with clinical utility for diagnostic purposes...
September 22, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28891364/an-update-on-pcr-use-for-minimal-residual-disease-monitoring-in-acute-lymphoblastic-leukemia
#13
Vittorio Nunes, Gianni Cazzaniga, A Biondi
Acute lymphoblastic leukemia (ALL) is the first neoplasm where the assessment of early response to therapy by minimal residual disease (MRD) monitoring has proven to be a fundamental tool for guiding therapeutic choices. In recent years, thanks to real-time quantitative PCR (qPCR), MRD monitoring has further achieved higher levels of sensitivity and standardization. However, some outstanding issues still remain to be addressed and emerging technologies hold the promise of improving MRD detection in ALL patients...
September 21, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28929824/size-and-methylation-mosaicism-in-males-with-fragile-x-syndrome
#14
Poonnada Jiraanont, Madhur Kumar, Hiu-Tung Tang, Glenda Espinal, Paul J Hagerman, Randi J Hagerman, Nuanchan Chutabhakdikul, Flora Tassone
OBJECTIVES: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous Time Resolved Fluorescence methodology respectively. RESULTS: DNA analysis showed atypical size- or methylation-mosaicism with both, full mutation and smaller (normal to premutation) alleles, as well as a combination of methylated and unmethylated alleles...
September 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28868924/is-instrument-free-molecular-detection-possible
#15
Haim H Bau, Changchun Liu, Michael Mauk, Jinzhao Song
No abstract text is available yet for this article.
September 8, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28817974/applications-of-the-real-time-quaking-induced-conversion-assay-in-diagnosis-prion-strain-typing-drug-pre-screening-and-other-amyloidopathies
#16
Niccolò Candelise, Matthias Schmitz, Susana Margarida Da Silva Correia, Amandeep Singh Arora, Anna Villar-Piqué, Saima Zafar, Franc Llorens, Maria Cramm, Inga Zerr
The development of in vitro protein misfolding amplification assays for the detection and analysis of abnormally folded proteins, such as proteinase K resistant prion protein (PrP(res)) was a major innovation in the prion field. In prion diseases, these types of assays imitate the pathological conversion of the cellular PrP (PrP(C)) into a proteinase resistant associated conformer or amyloid, called PrP(res). Areas covered: The most prominent protein misfolding amplification assays are the protein misfolding cyclic amplification (PMCA), which is based on sonication and the real-time quaking-induced conversion (RT-QuIC) technique based on shaking...
September 8, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28854829/profile-of-the-proaxsis-active-neutrophil-elastase-immunoassay-for-precision-medicine-in-chronic-respiratory-disease
#17
Holly R Keir, Christopher J Fong, Alison J Dicker, James D Chalmers
Neutrophil elastase (NE) is a 29kDa serine protease released from the azurophilic granules of neutrophils. It may be directly involved in the pathogenesis and disease progression in cystic fibrosis, bronchiectasis and COPD through the degradation of airway elastin and by impairing host defence. Areas covered: Measurement of NE activity has emerged as a promising biomarker strategy in inflammatory lung disease. The authors review studies where NE activity has been linked with clinical outcomes such as lung function decline, exacerbation frequency or other cross-sectional and longitudinal markers of disease severity...
September 7, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28875730/liquid-biopsy-for-brain-tumors
#18
Ganesh M Shankar, Leonora Balaj, Shannon L Stott, Brian Nahed, Bob S Carter
Minimally invasive methods will augment the clinical approach for establishing the diagnosis or monitoring treatment response of central nervous system tumors. Liquid biopsy by blood or cerebrospinal fluid sampling holds promise in this regard. Areas covered: In this literature review, the authors highlight recent studies describing the analysis of circulating tumor cells, cell free nucleic acids, and extracellular vesicles as strategies to accomplish liquid biopsy in glioblastoma and metastatic tumors. The authors then discuss the continued efforts to improve signal detection, standardize the liquid biopsy handling and preparation, develop platforms for clinical application, and establish a role for liquid biopsies in personalized medicine...
September 6, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28816567/how-close-are-we-to-implementing-a-genetic-risk-score-for-coronary-heart-disease
#19
Katherine Beaney, Fotios Drenos, Steve E Humphries
Genome-wide association meta-analysis have now identified more than 150 loci where common variants (SNPs) are significantly associated with coronary heart disease (CHD) and CHD end points. Areas covered: The authors review publications from their own laboratory and published recently where identified CHD risk SNPs are used in combination, and 'scaled' by their effect size, to create a 'weighted' Genetic risk Score (GRS), which, in combination with an individual's classical CHD risk factors, can be used to identify those at overall low, intermediate and high future risk...
September 4, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28792262/ionizing-radiation-induced-altered-microrna-expression-as-biomarkers-for-assessing-acute-radiation-injury
#20
Vijay K Singh, Harvey B Pollard
No abstract text is available yet for this article.
August 14, 2017: Expert Review of Molecular Diagnostics
journal
journal
39742
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"