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Expert Review of Molecular Diagnostics

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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
#1
Niccolò Candelise, Matthias Schmitz, Susana Margarida da Silva Correia, Aman 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...
August 18, 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
#2
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...
August 17, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28770636/an-update-on-diagnostic-and-prognostic-biomarkers-in-inflammatory-bowel-disease
#3
Andrew S Day, Steven T Leach, Daniel A Lemberg
Diagnosis of the chronic inflammatory bowel diseases relies upon initial recognition of an inflammatory condition, followed by definitive endoscopic, histological and radiological investigations. Various biomarkers are available to assist with initial elucidation of an inflammatory process: these also have important roles after diagnosis in monitoring and ongoing assessment of progress. Areas covered: Various inflammatory markers, serological tests and genetic analyses may be helpful in predicting the course of disease in the coming months...
August 10, 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
#4
Vijay K Singh, Harvey B Pollard
No abstract text is available yet for this article.
August 9, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28745539/congenital-heart-disease-and-genetic-syndromes-new-insights-into-molecular-mechanisms
#5
Giulio Calcagni, Marta Unolt, Maria Cristina Digilio, Anwar Baban, Paolo Versacci, Marco Tartaglia, Antonio Baldini, Bruno Marino
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs...
August 3, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28741392/recent-advances-in-the-development-and-use-of-molecular-tests-to-predict-antimicrobial-resistance-in-neisseria-gonorrhoeae
#6
Valentina Donà, Nicola Low, Daniel Golparian, Magnus Unemo
The number of genetic tests, mostly real-time PCRs, to detect antimicrobial resistance (AMR) determinants and predict AMR in Neisseria gonorrhoeae is increasing. Several of these assays are promising, but there are important shortcomings and few assays have been adequately validated and quality assured. Areas covered: Recent advances, focusing on publications since 2012, in the development and use of molecular tests to predict gonococcal AMR for surveillance and for clinical use, advantages and disadvantages of these tests and of molecular AMR prediction compared with phenotypic AMR testing, and future perspectives for effective use of molecular AMR tests for different purposes...
August 3, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28730919/an-update-on-biomarker-discovery-and-use-in-systemic-sclerosis
#7
Takashi Matsushita, Kazuhiko Takehara
Systemic sclerosis (SSc) is an autoimmune disease characterized by excessive extracellular matrix deposition in the skin and internal organs. Three major abnormalities, autoimmunity, vasculopathy, and fibrosis, are considered to play important roles in the pathophysiology of SSc. SSc is a heterogeneous disease with clinical features, disease progress, therapeutic response, and prognosis. Therefore, identification of biomarkers, which can predict the course of the disease, is required for the progress of clinical practice...
July 25, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28718351/exosomal-hsp60-a-potentially-useful-biomarker-for-diagnosis-assessing-prognosis-and-monitoring-response-to-treatment
#8
Celeste Caruso Bavisotto, Francesco Cappello, Alberto J L Macario, Everly Conway de Macario, Mariantonia Logozzi, Stefano Fais, Claudia Campanella
Cell-to-cell communication is imperative for life and it is mediated by sending and receiving information via the secretion and subsequent receptor-mediated detection of biological molecules. Exosomes (EXs) secreted from cells to the extracellular environment play an important role in intercellular communication in normal and pathological conditions. Areas covered: New evidence indicates that tumor cells-derived EXs contribute to cancer progression through the modulation of tumor microenvironment. The exosomal heat shock protein 60 (HSP60) is very likely a key player in intercellular cross-talk, particularly during the progress of diseases, such as cancer...
July 25, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28724316/molecular-diagnosis-of-autosomal-dominant-polycystic-kidney-disease
#9
Xuewen Song, Amirreza Haghighi, Ioan-Andrei Iliuta, York Pei
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5-10% of end-stage renal disease in developed countries. Mutations in PKD1 and PKD2 account for a majority of cases. Mutation screening of PKD1 is technically challenging largely due to the complexity resulting from duplication of its first 33 exons in six highly homologous pseudogenes (i.e. PKD1P1-P6). Protocol using locus-specific long-range and nested PCR has enabled comprehensive PKD1 mutation screening but is labor-intensive and costly...
July 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28707487/the-role-of-genetic-analysis-for-predicting-outcome-of-rheumatoid-arthritis
#10
Mamoonah Chaudhry, Anthony G Wilson
Rheumatoid Arthritis (RA) varies from a mild to a severe, unremitting illness characterized by uncontrolled inflammation with consequent damage to cartilage and bone of joints. Individualized therapeutic approaches based on likely outcome would facilitate a personalized therapeutic approach. Areas covered: Genetics is known to contribute a significant component of the variability in RA outcome, estimated at 45-60%. A number of candidate gene studies have been associated with variability in radiologically assessed joint damage; however a more comprehensive genome wide analysis is required to more fully characterize the genetic basis of RA severity...
July 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28689436/what-are-the-prospects-of-apolipoprotein-profiling-for-cardiovascular-disease
#11
Ferheen Baig, Manuel Mayr
No abstract text is available yet for this article.
July 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28641021/genetic-screening-birthright-or-earned-with-age
#12
Lonna Mollison, Jonathan S Berg
No abstract text is available yet for this article.
August 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28635333/molecular-biomarkers-to-guide-precision-medicine-in-localized-prostate-cancer
#13
Minke Smits, Niven Mehra, Michiel Sedelaar, Winald Gerritsen, Jack A Schalken
Major advances through tumor profiling technologies, that include next-generation sequencing, epigenetic, proteomic and transcriptomic methods, have been made in primary prostate cancer, providing novel biomarkers that may guide precision medicine in the near future. Areas covered: The authors provided an overview of novel molecular biomarkers in tissue, blood and urine that may be used as clinical tools to assess prognosis, improve selection criteria for active surveillance programs, and detect disease relapse early in localized prostate cancer...
August 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28604235/discovery-validation-and-optimization-of-cerebrospinal-fluid-biomarkers-for-use-in-parkinson-s-disease
#14
Lucia Farotti, Silvia Paciotti, Anna Tasegian, Paolo Eusebi, Lucilla Parnetti
Parkinson's disease (PD) is a complex and phenotypically heterogeneous neurodegenerative disease, for which the diagnosis is mainly based on clinical parameters (even if neuroimaging plays a role in diagnostic assessment); as a consequence, misdiagnosis is common, especially in early stages. Thus, there is an urgent need of having available biomarkers in order to achieve an early and accurate diagnosis. Since molecular changes in the brain are reliably and timely reflected in cerebrospinal fluid (CSF), CSF represents an ideal source for biomarkers of different pathophysiological processes characterizing the disease since its early phases...
August 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28598696/pathology-and-molecular-updates-in-tumors-of-the-prostate-towards-a-personalized-approach
#15
Silvia Gasparrini, Alessia Cimadamore, Roberta Mazzucchelli, Marina Scarpelli, Francesco Massari, Maria Rosaria Raspollini, Andrea B Galosi, Antonio Lopez-Beltran, Liang Cheng, Rodolfo Montironi
Treatment planning in patients with prostate neoplasms and prostate cancer (PCa) is generally based on the clinical and pathological molecular markers obtained from prostate needle biopsy and/or radical prostatectomy specimens. Area covered: Pathology of prostate neoplasms is evolving rapidly. Emerging trends include new additions to the 2016 World Health Organization (WHO) tumor classification as well as expanded diagnostic utility of biomarkers and molecular testing in tissue specimens, liquid biopsies and urinary samples, with the following purposes: diagnosis, prognosis and prediction...
August 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28598205/neurofilament-light-chain-protein-as-a-marker-of-neuronal-injury-review-of-its-use-in-hiv-1-infection-and-reference-values-for-hiv-negative-controls
#16
Aylin Yilmaz, Kaj Blennow, Lars Hagberg, Staffan Nilsson, Richard W Price, Judith Schouten, Serena Spudich, Jonathan Underwood, Henrik Zetterberg, Magnus Gisslén
Several CSF biomarkers of neuronal injury have been studied in people living with HIV. At this time, the most useful is the light subunit of the neurofilament protein (NFL). This major structural component of myelinated axons is essential to maintain axonal caliber and to facilitate effective nerve conduction. CSF concentrations of NFL provide a sensitive marker of CNS injury in a number of neurological diseases, including HIV-related neuronal injury. Areas Covered: In this review, the authors describe CSF NFL concentrations across the spectrum of HIV-infection, from its early acute phase to severe immunosuppression, with and without neurological conditions, and with and without antiretroviral treatment (n = 516)...
August 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28593790/molecular-diagnostics-for-hereditary-hearing-loss-in-children
#17
Manou Sommen, Wim Wuyts, Guy Van Camp
Hearing loss (HL) is the most common birth defect in industrialized countries with far-reaching social, psychological and cognitive implications. It is an extremely heterogeneous disease, complicating molecular testing. The introduction of next-generation sequencing (NGS) has resulted in great progress in diagnostics allowing to study all known HL genes in a single assay. The diagnostic yield is currently still limited, but has the potential to increase substantially. Areas covered: In this review the utility of NGS and the problems for comprehensive molecular testing for HL are evaluated and discussed...
August 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28548558/the-role-of-genetic-testing-in-epilepsy-diagnosis-and-management
#18
Yvonne G Weber, Saskia Biskup, Katherine L Helbig, Sarah Von Spiczak, Holger Lerche
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing...
August 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28602111/genetics-of-polycystic-ovary-syndrome
#19
Kateryna Mykhalchenko, Daria Lizneva, Tatiana Trofimova, Walidah Walker, Larisa Suturina, Michael P Diamond, Ricardo Azziz
Polycystic ovary syndrome (PCOS) is a hormonal and metabolic disorder affecting 5 to 20% of reproductive-aged women worldwide that results in androgen excess, menstrual dysfunction and oligo-ovulatory subfertility, with increased risks for type 2 diabetes, endometrial adenocarcinoma, and potentially vascular disease, among other morbidities. PCOS is a complex genetic trait with strong heritability accounting for as high as 70% of the development of the disorder. Areas covered: The authors summarize the historical and recent findings of genetic studies of PCOS, such as familial studies, twin studies, and molecular genetic studies, including the results of recent genome wide associated studies...
July 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28597695/micrornas-in-hpv-associated-cancers-small-players-with-big-consequences
#20
Sandeep Satapathy, Jyotsna Batra, Varinder Jeet, Erik W Thompson, C Punyadeera
MicroRNAs (miRs) are short (~20 nucleotides) non-coding ribonuecleic acids (ncRNAs) known to be involved in cellular processes such as proliferation, differentiation, immune response, pathogenicity and tumourigenesis, among many others. The regulatory mechanisms exerted by miRs have been implicated in many cancers, including Human Papillomavirus (HPV)-associated cancers. Areas covered: In this review, the authors discuss the involvement of miRs (-143, -375, -21, -200, -296 etc.) that have been shown to be dysregulated in HPV-associated cancers...
July 2017: Expert Review of Molecular Diagnostics
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