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Molecular diagnostics

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https://www.readbyqxmd.com/read/28646744/systematic-biobanking-novel-imaging-techniques-and-advanced-molecular-analysis-for-precise-tumor-diagnosis-and-therapy-the-polish-mobit-project
#1
Jacek Niklinski, Adam Kretowski, Marcin Moniuszko, Joanna Reszec, Anna Michalska-Falkowska, Magdalena Niemira, Michal Ciborowski, Radoslaw Charkiewicz, Dorota Jurgilewicz, Miroslaw Kozlowski, Rodryg Ramlau, Cezary Piwkowski, Miroslaw Kwasniewski, Monika Kaczmarek, Andrzej Ciereszko, Tomasz Wasniewski, Robert Mroz, Wojciech Naumnik, Ewa Sierko, Magdalena Paczkowska, Joanna Kisluk, Anetta Sulewska, Adam Cybulski, Zenon Mariak, Boguslaw Kedra, Jacek Szamatowicz, Paweł Kurzawa, Lukasz Minarowski, Angelika Edyta Charkiewicz, Barbara Mroczko, Jolanta Malyszko, Christian Manegold, Lothar Pilz, Heike Allgayer, Mohammed L Abba, Hartmut Juhl, Frauke Koch
Personalized and precision medicine is gaining recognition due to the limitations by standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored and individualized treatment for patients based on their clinical characteristics and genetic signatures as well as novel imaging techniques. Advances in whole genome sequencing have led to identification of genes involved in a variety of diseases. Moreover, biomarkers indicating severity of disease or susceptibility to treatment are increasingly being characterized...
June 21, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28645742/gastrointestinal-stromal-tumors-gist-presenting-in-the-liver-diagnostic-prognostic-and-therapeutic-issues
#2
Natacha Joyon, Jérôme Dumortier, Aude Aline-Fardin, Caroline Caramella, Pierre-Jean Valette, Jean-Yves Blay, Jean-Yves Scoazec, Peggy Dartigues
CONTEXT: Extra-gastrointestinal stromal tumors (E-GIST) presenting in the liver are exceedingly rare and raise difficult diagnostic and therapeutic challenges. METHODS: We report on two cases of liver E-GIST with different clinical presentations. We describe their clinical and imaging features, their histopathological and molecular characteristics, their treatment and their course. RESULTS: The first case was that of a 56-year-old male presenting with a 10-cm liver mass; the initial diagnosis, made in 1986 from a biopsy sample, was leiomyosarcoma; liver transplantation was performed in 1987; no extra-hepatic tumor was found; the course was uneventful until 1999, when tumor recurrence was diagnosed along the initial biopsy route; after reevaluation of available material, the definitive pathological diagnosis was GIST; imatinib treatment resulted in major response; the patient died of end-stage kidney disease 22 years after the initial diagnosis and 9 years after tumor recurrence...
June 20, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28644958/translating-cancer-epigenomics-into-the-clinic-focus-on-lung-cancer
#3
REVIEW
Josep Mari-Alexandre, Angel Diaz-Lagares, Maria Villalba, Oscar Juan, Ana B Crujeiras, Alfonso Calvo, Juan Sandoval
Epigenetic deregulation is increasingly being recognized as a hallmark of cancer. Recent studies have identified many new epigenetic biomarkers, some of which are being introduced into clinical practice for diagnosis, molecular classification, prognosis or prediction of response to therapies. O-6-methylguanine-DNA methyltransferase gene is the most clinically advanced epigenetic biomarker as it predicts the response to temozolomide and carmustine in gliomas. Therefore, epigenomics may represent a novel and promising tool for precision medicine, and in particular, the detection of epigenomic biomarkers in liquid biopsies will be of great interest for monitoring diseases in patients...
June 2, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28644686/cervical-adenocarcinoma-diagnosis-of-human-papillomavirus-positive-and-human-papillomavirus-negative-tumors
#4
Edyta C Pirog
CONTEXT: - Cervical adenocarcinomas span a diverse group of tumors with several distinct histologic tumor types, which include endocervical, endometrioid, intestinal, villoglandular, gastric, signet ring, serous, clear cell, and mesonephric. Diagnosis of cervical adenocarcinoma, especially early diagnosis, poses a significant challenge. OBJECTIVE: - To review the pathogenesis, diagnostic criteria, immunohistochemical markers, and differential diagnosis of various subtypes of human papillomavirus (HPV)-positive and HPV-negative cervical adenocarcinomas...
June 23, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28643945/athens-based-meeting-to-discuss-the-paediatric-virology-crossroad-in-october-2017
#5
Ioannis N Mammas, Demetrios A Spandidos
Viral infections are common diseases and they are well-described in the Ancient Greek Hippocratic Corpus (1), together with a limited spectrum of diagnostic and treatment options. However, over the past two decades, several exciting developments in the fields of clinical virology and molecular medicine have expanded our knowledge on the pathogenesis of viral infections in neonates and children (2,3). Since 2015, the workshop on paediatric virology has tried enthusiastically to explore these advances and to investigate recent challenges in the prevention strategies, molecular diagnostics, multimodality imaging and therapeutics of paediatric viral infections (2-5)...
June 23, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28643489/comparison-of-the-luminex-xtag-respiratory-viral-panel-fast-v2-assay-with-anyplex-ii-rv16-detection-kit-and-advansure-rv-real-time-rt-pcr-assay-for-the-detection-of-respiratory-viruses
#6
Dae Hyun Ko, Hyun Soo Kim, Jungwon Hyun, Han Sung Kim, Jae Seok Kim, Kyoung Un Park, Wonkeun Song
BACKGROUND: The accurate and rapid identification of the causative viruses is important for the timely diagnosis and management of respiratory infections. Multiplex molecular diagnostic techniques have been widely adopted to detect respiratory viruses. We compared the results of a newly upgraded, multiplex, molecular bead-based respiratory viral panel (RVP) assay with the results of Anyplex II RV16 detection kit and AdvanSure RV real-time RT-PCR assay. METHODS: We tested 254 respiratory specimens and cultured viral strains using the Luminex xTAG RVP Fast v2 assay (Luminex Molecular Diagnostics, Canada) and Anyplex II RV16 detection kit and compared the results...
September 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28643107/-microscopic-hematuria-reasonable-and-risk-adapted-diagnostic-evaluation
#7
REVIEW
N Löbig, F Wezel, T Martini, B Schröppel, C Bolenz
BACKGROUND: Microscopic hematuria that is not explained by an obvious underlying condition is a frequent and often an incidental finding that commonly triggers urological or nephrological evaluation. Potential underlying conditions range from benign to severe malignant diseases of the kidneys and urinary tract. MATERIALS AND METHODS: A nonsystematic literature search was performed, focusing on potential urological and nephrological causes of hematuria. National and international guidelines were considered and diagnostic as well as follow-up strategies are discussed...
June 22, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28642977/molecular-characteristics-and-prevalence-of-small-ruminant-lentiviruses-in-goats-in-japan
#8
Saki Kokawa, Mami Oba, Teppei Hirata, Shiro Tamaki, Miki Omura, Shinobu Tsuchiaka, Makoto Nagai, Tsutomu Omatsu, Tetsuya Mizutani
Small ruminant lentiviruses (SRLVs), which comprise caprine arthritis-encephalitis virus (CAEV) and maedi-visna virus (MVV), are prevalent in goats and sheep worldwide, including in Japan. However, little is known about the molecular characteristics of goat lentiviruses in Japan. In this study, a molecular and phylogenetic analysis of the long gag region was performed. The phylogenic tree demonstrated that all samples belonged to SRLV subtype B1. Two clusters were identified, with one cluster distinct from previously reported strains of subtype B1...
June 22, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28642604/turning-the-tide-in-myelodysplastic-myeloproliferative-neoplasms
#9
REVIEW
Michael W N Deininger, Jeffrey W Tyner, Eric Solary
Myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) are aggressive myeloid malignancies recognized as a distinct category owing to their unique combination of dysplastic and proliferative features. Although current classification schemes still emphasize morphology and exclusionary criteria, disease-defining somatic mutations and/or germline predisposition alleles are increasingly incorporated into diagnostic algorithms. The developing picture suggests that phenotypes are driven mostly by epigenetic mechanisms that reflect a complex interplay between genotype, physiological processes such as ageing and interactions between malignant haematopoietic cells and the stromal microenvironment of the bone marrow...
June 23, 2017: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/28642172/egfr-t790m-ctdna-testing-platforms-and-their-role-as-companion-diagnostics-correlation-with-clinical-outcomes-to-egfr-tkis
#10
Zhiyong Liang, Ying Cheng, Yuan Chen, Yanping Hu, Wei-Ping Liu, You Lu, Jie Wang, Ye Wang, Gang Wu, Jian-Ming Ying, He-Long Zhang, Xu-Chao Zhang, Yi-Long Wu
Somatic mutation in the epidermal growth factor receptor (EGFR) predict clinical response to EGFR tyrosine kinase inhibitors in non-small cell lung cancer (NSCLC) and is a promising target for personalised medicine. EGFR mutations have prognostic value. Initially patients respond well to tyrosine kinase inhibitors but finally they would develop resistance and about 50% of this resistance can be attributed to the emergence of EGFR resistant mutation, T790M. This necessitates the need for genetic testing for clinical management of patients...
June 19, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28642141/added-diagnostic-value-and-impact-on-antimicrobial-therapy-of-16s-rrna-pcr-and-amplicon-sequencing-on-resected-heart-valves-in-infective-endocarditis-a-prospective-cohort-study
#11
Bart Peeters, Paul Herijgers, Kurt Beuselinck, Jan Verhaegen, Willy E Peetermans, Marie-Christine Herregods, Stefanie Desmet, Katrien Lagrou
OBJECTIVES: For adequate management and therapy of infective endocarditis (IE), identification of the causative pathogen is crucial but currently molecular testing results are not included in diagnostic criteria. The added diagnostic value and impact on antimicrobial therapy of 16S rRNA PCR and Amplicon Sequencing (16S rRNA PCR) performed on excised heart valves from IE patients was evaluated alongside with the effect of pre-operative antibiotics on the performance of blood culture (BC), valve culture (VC) and 16S rRNA PCR...
June 19, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28641501/hematological-characterizations-and-molecular-diagnostic-aspects-of-hb-wiangpapao-%C3%AE-44-ce2-pro%C3%A2-ser-%C3%AE-1-ccg-tcg-hba1-c-133c-t-a-new-%C3%AE-globin-variant-found-in-a-pregnant-thai-woman
#12
Sitthichai Panyasai, Sakorn Pornprasert
We report the hematological parameters and provide a rapid molecular analysis method for detection of Hb Wiangpapao [α44(CE2)Pro→Ser, CCG>TCG; HBA1: c.133C>T], a new α-globin variant found in a pregnant Thai woman. Her red cell indices were measured by an automated blood counter. The results were: red blood cell (RBC) count 4.03 × 10(12)/L, Hb 13.1 (g/dL), packed cell volume (PCV) 0.39 L/L, mean corpuscular volume (MCV) 97.0 fL, mean corpuscular hemoglobin (Hb) (MCH) 32.5 pg, mean corpuscular Hb concentration (MCHC) 33...
June 23, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28641396/geneticization-in-mim-omim%C3%A2-exploring-historic-and-epistemic-drivers-of-contemporary-understandings-of-genetic-disease
#13
Rachel A Ankeny
Prior to the genomic sequencing era, the bible for those working in clinical genetics was McKusick's Mendelian Inheritance in Man (MIM), which appeared in multiple editions between the 1960s and the late 1990s. This catalogue was organized according to general patterns of inheritance and focused on phenotypes. Beginning in the mid-1980s, it was replaced by Online Mendelian Inheritance in Man (OMIM®), a continuously updated catalogue documenting molecular relationships between genetic variation and phenotypic expression...
June 21, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/28640824/molecular-diagnosis-of-plasmodium-ovale-by-photo-induced-electron-transfer-fluorogenic-primers-pet-pcr
#14
David Akerele, Dragan Ljolje, Eldin Talundzic, Venkatachalam Udhayakumar, Naomi W Lucchi
Accurate diagnosis of malaria infections continues to be challenging and elusive, especially in the detection of submicroscopic infections. Developing new malaria diagnostic tools that are sensitive enough to detect low-level infections, user friendly, cost effective and capable of performing large scale diagnosis, remains critical. We have designed novel self-quenching photo-induced electron transfer (PET) fluorogenic primers for the detection of P. ovale by real-time PCR. In our study, a total of 173 clinical samples, consisting of different malaria species, were utilized to test this novel PET-PCR primer...
2017: PloS One
https://www.readbyqxmd.com/read/28640696/insights-from-molecular-profiling-of-adult-glioma
#15
Phedias Diamandis, Kenneth D Aldape
The comprehensive molecular profiling of cancer has resulted in new insights into the biology and classification of numerous tumor types. In the case of primary brain tumors that commonly affect adults, an emerging set of disease-defining biomarker sets is reshaping existing diagnostic entities that had previously been defined on the basis of their microscopic appearance. Substantial progress has been made in this regard for common primary brain tumors in adults, especially diffuse gliomas, where large-scale profiling efforts have led to the incorporation of highly prevalent molecular alterations that promote a biologically based classification as an adjunct to the traditional histopathologic approach...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28640577/laser-ablation-molecular-isotopic-spectrometry-for-molecules-formation-chemistry-in-fs-laser-ablated-plasmas
#16
Huaming Hou, Xianglei Mao, Vassilia Zorba, Richard E Russo
Recently, laser ablated molecular isotopic spectrometry (LAMIS) has expanded its capability to explore molecules formation mechanism in laser induced plasma in addition to isotope analysis. LAMIS is powerful tool for tracking the origination of atoms that involved in formation of investigated molecules by labeling atoms with its isotopic substitution. The evolutionary formation pathways of organic molecules, especially of C2 dimers and CN radicals, were frequently reported. However, very little is known about the formation pathways for metallic radicals and heterodimers in laser ablated plasma...
June 22, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28639854/rapid-on-site-evaluation-of-endobronchial-ultrasound-guided-transbronchial-needle-aspirations-for-the-diagnosis-of-lung-cancer-a-perspective-from-members-of-the-pulmonary-pathology-society
#17
Deepali Jain, Timothy Craig Allen, Dara L Aisner, Mary Beth Beasley, Philip T Cagle, Vera Luiza Capelozzi, Lida P Hariri, Sylvie Lantuejoul, Ross Miller, Mari Mino-Kenudson, Sara E Monaco, Andre Moreira, Kirtee Raparia, Natasha Rekhtman, Anja Christiane Roden, Sinchita Roy Chowdhuri, Gilda da Cunha Santos, Erik Thunnissen, Giancarlo Troncone, Marina Vivero
CONTEXT: - Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has emerged as a very useful tool in the field of diagnostic respiratory cytology. Rapid on-site evaluation (ROSE) of EBUS-TBNA not only has the potential to improve diagnostic yield of the procedure but also to triage samples for predictive molecular testing to guide personalized treatments for lung cancer. OBJECTIVE: - To provide an overview of the current status of the literature regarding ROSE of EBUS-TBNA in the diagnosis of lung cancer...
June 22, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28639650/mechanisms-of-h-and-co-loss-from-the-uracil-nucleobase-following-low-energy-electron-irradiation
#18
Mark A Fennimore, Tolga N V Karsili, Spiridoula Matsika
Ionising radiation in cells generates secondary low energy electrons (LEEs) which can induce biomolecular damage when incident upon a particular biomolecule. Notable biomolecules include those contained within double-stranded DNA and RNA helices, which upon exposure to LEEs, may form reactive intermediate products that show detriment to their specific structures and functions. Such damaging processes are understood to proceed via dissociative electron attachment (DEA). Using anion resonance stabilisation methods, coupled to state-of-the-art electronic structure methods, and reaction path mapping, the work presented herein highlights the detailed mechanisms associated with molecular elimination of CO and H from the uracil nucleobase following LEE irradiation - providing a rationale for earlier experiments...
June 22, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28639593/synaptic-roles-of-cyclin-dependent-kinase-5-its-implications-in-epilepsy
#19
REVIEW
Aparna Banerjee Dixit, Jyotirmoy Banerjee, Manjari Tripathi, Chitra Sarkar, P Sarat Chandra
There is an urgent need to understand the molecular mechanisms underlying epilepsy to find novel prognostic/diagnostic biomarkers to prevent epilepsy patients at risk. Cyclin-dependent kinase 5 (CDK5) is involved in multiple neuronal functions and plays a crucial role in maintaining homeostatic synaptic plasticity by regulating intracellular signalling cascades at synapses. CDK5 deregulation is shown to be associated with various neurodegenerative diseases such as Alzheimer's disease. The association between chronic loss of CDK5 and seizures has been reported in animal models of epilepsy...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28639284/soft-tissue-angiofibroma-clinicopathologic-immunohistochemical-and-molecular-analysis-of-14-cases
#20
Elise M Bekers, Patricia Jta Groenen, Marian Aj Verdijk, Winny L Raaijmakers-van Geloof, Paul Roepman, Robert Vink, Nathalie D B Gilhuijs, Joost M van Gorp, Judith Vmg Bovée, David H Creytens, Adrienne M Flanagan, Albert Jh Suurmeijer, Thomas Mentzel, Elsa Arbajian, Uta Flucke
Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies available. Fourteen lesions (6 females, 8 males; age range 7 - 67 years) of the lower extremities (12) and trunk (2) were investigated by immunohistochemistry, including for the first time NCOA2. NCOA2 was also tested in a control group of other spindle cell lesions. The known fusion-genes (AHRR-NCOA2 and GTF2I-NCOA2) were examined using RT-PCR in order to evaluate their diagnostic value...
June 22, 2017: Genes, Chromosomes & Cancer
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