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Molecular Diagnosis

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https://www.readbyqxmd.com/read/28550721/clinical-performance-of-the-veris-hcv-assay-for-hepatitis-c-virus-rna-quantification
#1
Laure Izquierdo, Corinne Prégermain, Corinne Hottelet, Gwenaëlle Decombe, Anne-Marie Roque-Afonso
BACKGROUND: Diagnosis of hepatitis C virus (HCV) infection and treatment monitoring rely on detection/quantification of HCV RNA and real-time polymerase chain reaction (PCR) techniques are expected to equivalently quantify the different HCV genotypes. OBJECTIVE: The clinical performance of the VERIS HCV assay for HCV RNA quantification was compared to that of the Abbott RealTime HCV assay. STUDY DESIGN: Qualitative concordance and quantitative comparison were evaluated on a first panel of 286 clinical samples containing HCV genotypes 1-6...
May 18, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28550611/-18-f-fluorodeoxyglucose-positron-emission-tomography-in-the-diagnosis-of-malignancy-in-patients-with-paraneoplastic-neurological-syndrome-a-systematic-review-and-meta-analysis
#2
REVIEW
Ana María García Vicente, Roberto C Delgado-Bolton, Mariano Amo-Salas, Jesús López-Fidalgo, Ana Paula Caresia Aróztegui, José Ramón García Garzón, Javier Orcajo Rincón, María José García Velloso, María de Arcocha Torres, Soledad Alvárez Ruíz
PURPOSE: The detection of occult cancer in patients suspected of having a paraneoplastic neurological syndrome (PNS) poses a diagnostic challenge. The aim of our study was to perform a systematic review and meta-analysis to assess the diagnostic performance of FDG PET for the detection of occult malignant disease responsible for PNS. METHODS: A systematic review of the literature (MEDLINE, EMBASE, Cochrane, and DARE) was undertaken to identify studies published in any language...
May 27, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28550479/biomolecular-diagnosis-of-myotonic-dystrophy-type-2-a-challenging-approach
#3
REVIEW
Giovanni Meola, Fiammetta Biasini, Rea Valaperta, Elena Costa, Rosanna Cardani
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians...
May 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28550032/a-predictive-score-for-thrombosis-associated-with-breast-colorectal-lung-or-ovarian-cancer-the-prospective-compass-cancer-associated-thrombosis-study
#4
Grigoris T Gerotziafas, Ali Taher, Hikmat Abdel-Razeq, Essam AboElnazar, Alex C Spyropoulos, Salem El Shemmari, Annette K Larsen, Ismail Elalamy
BACKGROUND: The stratification of outpatients on chemotherapy for breast, colorectal, lung, and ovarian cancers at risk of venous thromboembolism (VTE) remains an unmet clinical need. The derivation of a risk assessment model (RAM) for VTE in these patients was the aim of the study "Prospective Comparison of Methods for thromboembolic risk assessment with clinical Perceptions and AwareneSS in real life patients-Cancer Associated Thrombosis" (COMPASS-CAT). PATIENTS AND METHODS: The derivation cohort consisted of 1,023 outpatients...
May 26, 2017: Oncologist
https://www.readbyqxmd.com/read/28549927/molecular-classification-of-adult-diffuse-gliomas-conflicting-idh1-idh2-atrx-and-1p-19q-results
#5
Leomar Y Ballester, Jason T Huse, Guilin Tang, Gregory N Fuller
Until recently, the diagnosis of brain tumors was primarily based on microscopic examination of hematoxylin and eosin (H&E) stained tissue sections. The updated World Health Organization (WHO) classification of tumours of the central nervous system (CNS) incorporates genetic alterations into the classification system, with the goal of creating more homogenous disease categories with greater prognostic value. Hence, under the new classification system the diagnosis of diffuse gliomas incorporates the evaluation of mutations in the IDH1 and IDH2 genes and simultaneous deletion of chromosomes 1p and 19...
May 23, 2017: Human Pathology
https://www.readbyqxmd.com/read/28549769/variations-in-the-cerebrospinal-fluid-proteome-following-traumatic-brain-injury-and-subarachnoid-hemorrhage
#6
David E Connor, Ganta V Chaitanya, Prashant Chittiboina, Paul McCarthy, L Keith Scott, Lisa Schrott, Alireza Minagar, Anil Nanda, J Steven Alexander
BACKGROUND: Proteomic analysis of cerebrospinal fluid (CSF) has shown great promise in identifying potential markers of injury in neurodegenerative diseases [1-13]. Here we compared CSF proteomes in healthy individuals, with patients diagnosed with traumatic brain injury (TBI) and subarachnoid hemorrhage (SAH) in order to characterize molecular biomarkers which might identify these different clinical states and describe different molecular mechanisms active in each disease state. METHODS: Patients presenting to the Neurosurgery service at the Louisiana State University Hospital-Shreveport with an admitting diagnosis of TBI or SAH were prospectively enrolled...
May 13, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28549417/switch-in-kras-mutational-status-during-an-unusual-course-of-disease-in-a-patient-with-advanced-pancreatic-adenocarcinoma-implications-for-translational-research
#7
Sibylle Baechmann, Steffen Ormanns, Michael Haas, Stephan Kruger, Anna Remold, Dominik Paul Modest, Thomas Kirchner, Andreas Jung, Jens Werner, Volker Heinemann, Stefan Boeck
BACKGROUND: Despite the introduction of novel effective treatment regimens like gemcitabine plus nab-paclitaxel and FOLFIRINOX, pancreatic ductal adenocarcinoma (PDAC) remains one of the most aggressive epithelial tumors. Among the genetic alterations frequently found in PDAC, mutations in the KRAS gene might play a prognostic role regarding overall survival and may also have the potential to predict the efficacy of anti-EGFR treatment. CASE PRESENTATION: We report the clinical case of a 69 year old Caucasian female that was diagnosed with histologically confirmed locally advanced PDAC with lymph node involvement in August 2010...
May 26, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28549385/identification-and-imaging-of-leukemia-cells-using-dual-aptamer-functionalized-graphene-oxide-complex
#8
Amirhossein Bahreyni, Rezvan Yazdian-Robati, Mohammad Ramezani, Mehdi Rasouli, Morteza Alinezhad Nameghi, Mona Alibolandi, Khalil Abnous, Seyed Mohammad Taghdisi
Acute lymphoblastic leukemia is the most common malignancy in children. Patient improvement completely depends on the diagnosis of acute lymphoblastic leukemia. So there is a great demand for diagnosis of acute lymphoblastic leukemia. In this study, a novel assay based on dual-aptamer (Sgc8c and ATP aptamers)-functionalized graphene oxide (DAFGO) complex was designed for the identification of Molt-4 cells (human acute lymphoblastic leukemia T-cell). This assay relies on the internalization of DAFGO complex into Molt-4 cells, but not into U266 cells, using Sgc8c aptamer as molecular recognition probe, and release of FAM-labeled ATP aptamer from the complex in the presence of high amounts of ATP in lysosome, leading to a strong fluorescence emission...
January 1, 2017: Journal of Biomaterials Applications
https://www.readbyqxmd.com/read/28549105/outbreak-of-pneumocystis-jirovecii-infection-among-heart-transplant-recipients-molecular-investigation-and-management-of-an-inter-human-transmission
#9
William Vindrios, Nicolas Argy, Solène Le Gal, François-Xavier Lescure, Laurent Massias, Minh Patrick Le, Michel Wolff, Yazdan Yazdanpanah, Gilles Nevez, Sandrine Houze, Richard Dorent, Jean-Christophe Lucet
Background: An outbreak of Pneumocystis jirovecii pneumonia (PCP) occurred among heart transplant recipients (HTR) at the outpatient clinic of a university hospital, from March to September 2015. Clinical, therapeutic, biological and molecular data were analyzed to determine its origin and control the outbreak. Methods: Clinical and biological data regarding all HTR followed in the outpatient clinic were collected. PCP diagnosis was based on microscopy and real-time PCR...
May 26, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28549036/the-role-of-molecular-techniques-for-the-detection-of-mycobacterium-tuberculosis-complex-in-paraffin-embedded-biopsies
#10
Zaira Moure, Josep Castellví, Adrián Sánchez-Montalvá, Tomás Pumarola, M Teresa Tórtola
INTRODUCTION: Extrapulmonary tuberculosis (EPTB) is increasingly frequent in developed countries. When it is not clinically suspected, samples are not collected for culture and the only material available is a tissue paraffin block. OBJECTIVE: The aim of this study was to evaluate FluoroType MTB (FT-MTB) and GenoType MTBDRplus methods for the detection of Mycobaterium tuberculosis complex in paraffin-embedded biopsies comparing the results to tuberculosis diagnosis...
May 25, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28548594/immediate-ex-vivo-diagnosis-of-pituitary-adenomas-using-confocal-reflectance-microscopy-a-proof-of-principle-study
#11
Michael A Mooney, Joseph Georges, Mohammedhassan Izady Yazdanabadi, Katherine Y Goehring, William L White, Andrew S Little, Mark C Preul, Stephen W Coons, Peter Nakaji, Jennifer M Eschbacher
OBJECTIVE The objective of this study was to evaluate the feasibility of using confocal reflectance microscopy (CRM) ex vivo to differentiate adenoma from normal pituitary gland in surgical biopsy specimens. CRM allows for rapid, label-free evaluation of biopsy specimens with cellular resolution while avoiding some limitations of frozen section analysis. METHODS Biopsy specimens from 11 patients with suspected pituitary adenomas were transported directly to the pathology department. Samples were immediately positioned and visualized with CRM using a confocal microscope located in the same area of the pathology department where frozen sections are prepared...
May 26, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28547982/clinicopathological-study-of-5-cases-of-renal-cell-carcinoma-with-t-6-11-p21-q12
#12
Naoto Kuroda, Kenji Yorita, Naomi Sasaki, Akira Ishihara, Keiko Matsuura, Tsutomu Daa, Shintaro Mori, Aya Sasaki, Shuji Mikami, Kazuto Shigematsu, Yoji Nagashima
Renal cell carcinoma (RCC) with t(6;11)(p21;q12) has been incorporated into the recent WHO classification. We performed a clinicopathological study of 5 cases with such a tumor. The patients consisted of 4 males and 1 female. The age of patients ranged from 17 to 57 years with a mean age of 38.6 years. Tumor sizes ranged from 2.8 to 11 cm with a mean value of 6.5 cm. Despite immunotherapy and molecular-targeted therapy, one patient died of the disease 28 months after the surgery. Grossly, the cut surface of this tumor showed grayish white color in at least the focal area of all tumors...
2017: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
https://www.readbyqxmd.com/read/28547652/histone-h3-k27m-mutations-in-adult-cerebellar-high-grade-gliomas
#13
Satoshi Nakata, Sumihito Nobusawa, Tatsuya Yamazaki, Tadashi Osawa, Keishi Horiguchi, Yasuhiro Hashiba, Hiroyuki Yaoita, Nozomi Matsumura, Hayato Ikota, Junko Hirato, Yuhei Yoshimoto, Hideaki Yokoo
Adult cerebellar high-grade gliomas (HGG) are rare and their molecular basis has not been fully elucidated. Although a diffuse midline glioma H3 K27M-mutant, a recently characterized variant of HGG, was reported to occasionally occur in the cerebellum, adult cases were rarely tested for this mutation; only five mutant cases have been reported to date. It currently remains unknown whether H3 K27M-mutant cerebellar gliomas share common histological features or have a uniformly dismal prognosis. In the present study, we assessed the prevalence of histone H3 K27M mutations in ten adult cerebellar HGG, identifying two H3F3A-mutant cases...
May 25, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28546993/nationwide-genetic-analysis-for-molecularly-unresolved-cystic-fibrosis-patients-in-a-multiethnic-society-implications-for-preconception-carrier-screening
#14
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem, Amihood Singer
BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#15
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546232/genetic-defects-in-pediatric-onset-adrenal-insufficiency-in-japan
#16
Naoko Amano, Satoshi Narumi, Mie Hayashi, Masaki Takagi, Kazuhide Imai, Toshirou Nakamura, Rumi Hachiya, Goro Sasaki, Keiko Homma, Tomohiro Ishii, Tomonobu Hasegawa
CONTEXT: Most patients with pediatric-onset primary adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, can be diagnosed by measuring the urine or serum levels of steroid metabolites. However, the etiology is often difficult to determine in a subset of patients lacking characteristic biochemical findings. OBJECTIVE: To assess the frequency of genetic defects in Japanese children with biochemically uncharacterized PAI, and characterize the phenotypes of mutation-carrying patients...
May 25, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28546131/lipoblasts-in-spindle-cell-and-pleomorphic-lipomas-a-close-scrutiny
#17
Michael Michal, Dmitry V Kazakov, Ladislav Hadravsky, Kvetoslava Michalova, Petr Grossmann, Petr Steiner, Tomas Vanecek, Valentina Renda, Saul Suster, Michal Michal
The presence and frequency of lipoblasts (LPB) in spindle cell lipomas (SCL) and pleomorphic lipomas (PL) has never been studied in detail on histologically, immunohistochemically and molecular genetically validated set of tumors. The authors investigated this feature by reviewing 91 cases of SCL and 38 PL. When more than three unequivocal LPB were found, the case was regarded as positive for the presence of LPB. All positive cases were then stained with CD34 and Retinoblastoma (Rb) protein antibodies and tested by FISH for MDM2 and CDK4 amplifications and the FUS gene rearrangements...
May 22, 2017: Human Pathology
https://www.readbyqxmd.com/read/28545919/molecular-diagnosis-of-salmonella-typhi-and-its-virulence-in-suspected-typhoid-blood-samples-through-nested-multiplex-pcr
#18
Solai Ramatchandirane Prabagaran, Vellingiri Kalaiselvi, Naganathan Chandramouleeswaran, Krishnan Nair Geetha Deepthi, Kootallur Narayanan Brahmadathan, Mariappa Mani
A nested multiplex polymerase chain reaction (PCR) based diagnosis was developed for the detection of virulent Salmonella typhi in the blood specimens from patients suspected for typhoid fever. After the Widal test, two pairs of primers were used for the detection of flagellin gene (fliC) of S. typhi. Among them, those positive for fliC alone were subjected to identification of genes in Via B operon of Salmonella Pathogenesity Island (SPI-7) where four primer pairs were used to detect tviA and tviB genes. Among 250 blood samples tested, 115 were positive by fliC PCR; 22 of these were negative for tviA and tviB...
May 22, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/28545823/novel-molecular-subgroups-for-clinical-classification-and-outcome-prediction-in-childhood-medulloblastoma-a-cohort-study
#19
Edward C Schwalbe, Janet C Lindsey, Sirintra Nakjang, Stephen Crosier, Amanda J Smith, Debbie Hicks, Gholamreza Rafiee, Rebecca M Hill, Alice Iliasova, Thomas Stone, Barry Pizer, Antony Michalski, Abhijit Joshi, Stephen B Wharton, Thomas S Jacques, Simon Bailey, Daniel Williamson, Steven C Clifford
BACKGROUND: International consensus recognises four medulloblastoma molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGrp3), and group 4 (MBGrp4), each defined by their characteristic genome-wide transcriptomic and DNA methylomic profiles. These subgroups have distinct clinicopathological and molecular features, and underpin current disease subclassification and initial subgroup-directed therapies that are underway in clinical trials. However, substantial biological heterogeneity and differences in survival are apparent within each subgroup, which remain to be resolved...
May 22, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28545465/an-increase-in-long-non-coding-rna-pandar-is-associated-with-poor-prognosis-in-clear-cell-renal-cell-carcinoma
#20
Yi Xu, Yanyue Tong, Jianyong Zhu, Zhangming Lei, Lijun Wan, Xiuwen Zhu, Feng Ye, Liping Xie
BACKGROUND: Nearly 30% of clear cell renal cell carcinoma (ccRCC) patients present with metastasis at the time of diagnosis, and the prognosis for these patients is poor. Therefore, novel potential prognostic biomarkers and therapeutic targets for ccRCC could be helpful. Emerging evidence indicates that lncRNAs play important roles in cancer tumorigenesis and could be used as potential biomarkers or therapeutic targets. PANDAR (promoter of CDKN1A antisense DNA damage activated RNA) is a relatively novel lncRNA that plays an important role in the development of multiple cancers...
May 25, 2017: BMC Cancer
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