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Expert Review of Molecular Diagnostics

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https://www.readbyqxmd.com/read/28730919/an-update-on-biomarker-discovery-and-use-in-systemic-sclerosis
#1
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 21, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28724316/molecular-diagnosis-of-autosomal-dominant-polycystic-kidney-disease
#2
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/28718351/exosomal-hsp60-a-potentially-useful-biomarker-for-diagnosis-assessing-prognosis-and-monitoring-response-to-treatment
#3
Caruso Bavisotto, F Cappello, Ajl Macario, E Conway de Macario, M Logozzi, S Fais, C 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 18, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28707487/the-role-of-genetic-analysis-for-predicting-outcome-of-rheumatoid-arthritis
#4
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 14, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28689436/what-are-the-prospects-of-apolipoprotein-profiling-for-cardiovascular-disease
#5
Ferheen Baig, Manuel Mayr
No abstract text is available yet for this article.
July 10, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28480776/advances-in-the-role-of-cytogenetic-analysis-in-the-molecular-diagnosis-of-b-cell-lymphomas
#6
Béatrice Grange, Evelyne Callet-Bauchu, Gilles Salles, Pierre Sujobert
Cytogenetic abnormalities represent essential determinants of diagnosis and prognosis in B-cell lymphomas. Their theranostic value is increasingly significant with the development of targeted therapies, in order to adapt the treatment at diagnosis as well as when relapse occurs. Areas covered: As the significance of these biomarkers is influenced by the technology used to detect them, an overview describing the strength and weakness of conventional and emerging technologies is provided. This review also updates the diverse cytogenetic abnormalities found in B-cell lymphomas, emphasizing their value in treatment decision...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28468520/the-role-of-biomarkers-in-the-management-of-epithelial-ovarian-cancer
#7
Wei-Lei Yang, Zhen Lu, Robert C Bast
Despite advances in surgery and chemotherapy for ovarian cancer, 70% of women still succumb to the disease. Biomarkers have contributed to the management of ovarian cancer by monitoring response to treatment, detecting recurrence, distinguishing benign from malignant pelvic masses and attempting to detect disease at an earlier stage. Areas covered: This review focuses on recent advances in biomarkers and imaging for management of ovarian cancer with particular emphasis on early detection. Relevant literature has been reviewed and analyzed...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28459185/karyomapping-and-how-is-it-improving-preimplantation-genetics
#8
Rebecca L Gould, Darren K Griffin
Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different. Areas covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28460550/evaluating-the-use-of-pcr-for-diagnosing-invasive-aspergillosis
#9
Dieter Buchheidt, Mark Reinwald, Wolf-Karsten Hofmann, Tobias Boch, Birgit Spiess
Aspergillus species, primarily Aspergillus fumigatus, are still the most emerging fungal pathogens. Within recent years, novel molecular methods have been developed to improve the diagnosis of life-threatening invasive aspergillosis in high risk patients. Especially patients with malignant hematological diseases undergoing intensive chemotherapy are at risk and mortality rates are exceptionally high, in part due to difficulties and delays in establishing a microbiologic diagnosis. Early diagnosis and treatment are crucial for an adequate therapeutical management, but, however, are hardly achieved in the clinical setting because most of the current conventional diagnostic tools either lack specificity or acceptable sensitivity at the critical early phase of the infection...
May 10, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28423960/the-role-of-molecular-diagnostic-testing-in-the-management-of-thyroid-nodules
#10
Maureen D Moore, Suraj Panjwani, Katherine D Gray, Brendan M Finnerty, Rasa Zarnegar, Thomas J Fahey
Fine needle aspiration (FNA) with cytologic examination remains the standard of care for investigation of thyroid nodules. However, as many as 30% of FNA samples are cytologically indeterminate for malignancy, which confounds clinical management. To reduce the burden of repeat diagnostic testing and unnecessary surgery, there has been extensive investigation into molecular markers that can be detected on FNA specimens to more accurately stratify a patient's risk of malignancy. Areas covered: In this review, the authors discuss recent evidence and progress in molecular markers used in the diagnosis of thyroid cancer highlighting somatic gene alterations, molecular technologies and microRNA analysis...
April 28, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28425774/profile-of-the-triplex-assay-for-detection-of-chlamydia-gonorrhea-and-trichomonas-using-the-bd-max%C3%A2-system
#11
Barbara Van Der Pol
Chlamydia, gonorrhea and trichomonas are the most common curable STI. improved access to testing could reduce infection rates and prevent sequelae. nucleic acid amplification tests are the recommend class of diagnostic assay for these infections which are often asymptomatic. Areas covered: A description of the BD MAX™ System (MAX) and the BD MAX CT/GC/TV assay is provided along with data from a large US clinical trial. The capacity of the system for other tests and for lab developed assays is also described...
April 27, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28415895/the-value-of-liquid-biopsy-in-diagnosis-and-monitoring-of-diffuse-large-b-cell-lymphoma-recent-developments-and-future-potential
#12
Vincent Camus, Fabrice Jardin, Herve Tilly
Diffuse large B-cell lymphomas (DLBCL) represent a heterogeneous subset of non-Hodgkin lymphomas (NHL) that demonstrate many molecular alterations and somatic mutations, all of which are targets for the recent development of biomarkers that use various molecular biological techniques. These non-invasive emerging biomarkers will be used in the next few years to better monitor the response to immunochemotherapeutic treatments with the aim of completely eradicating the disease in order to cure it. Areas covered: In this review, the authors conducted a literature search to identify and summarize the major advances in liquid biopsy techniques for DLBCL that are useful for diagnosis and monitoring minimal residual disease (MRD)...
April 27, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28641021/genetic-screening-birthright-or-earned-with-age
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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