keyword
MENU ▼
Read by QxMD icon Read
search

Molecular diagnostic methods

keyword
https://www.readbyqxmd.com/read/28438806/emerging-affinity-based-proteomic-technologies-for-large-scale-plasma-profiling-in-cardiovascular-disease
#1
REVIEW
J Gustav Smith, Robert E Gerszten
Plasma biomarkers that reflect molecular states of the cardiovascular system are central for clinical decision making. Routinely used plasma biomarkers include troponins, natriuretic peptides, and lipoprotein particles, yet interrogate only a modest subset of pathways relevant to cardiovascular disease. Systematic profiling of a larger portion of circulating plasma proteins (the plasma proteome) will provide opportunities for unbiased discovery of novel markers to improve diagnostic or predictive accuracy. In addition, proteomic profiling may inform pathophysiological understanding and point to novel therapeutic targets...
April 25, 2017: Circulation
https://www.readbyqxmd.com/read/28438522/detection-of-leishmania-infantum-dna-in-conjunctival-swabs-of-cats-by-quantitative-real-time-pcr
#2
Julia Cristina Benassi, Graziella U Benvenga, Helena Lage Ferreira, Vanessa F Pereira, Lara B Keid, Rodrigo Soares, Tricia Maria Ferreira de Sousa Oliveira
Although some studies have investigated the potential role of cats as a reservoir for Leishmania, their role in the epidemiology of visceral leishmaniasis (VL) is still poorly understood. Molecular diagnostic techniques are an important tool in VL diagnosis, and PCR shows high sensitivity and specificity for Leishmania spp. detection. Quantitative real-time PCR (qPCR) is a method that permits quantitative analysis of a large number of samples, resulting in more sensitive, accurate, and reproducible measurements of specific DNA present in the sample...
April 21, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28438193/pathos-a-decision-support-system-for-reporting-high-throughput-sequencing-of-cancers-in-clinical-diagnostic-laboratories
#3
Kenneth D Doig, Andrew Fellowes, Anthony H Bell, Andrei Seleznev, David Ma, Jason Ellul, Jason Li, Maria A Doyle, Ella R Thompson, Amit Kumar, Luis Lara, Ravikiran Vedururu, Gareth Reid, Thomas Conway, Anthony T Papenfuss, Stephen B Fox
BACKGROUND: The increasing affordability of DNA sequencing has allowed it to be widely deployed in pathology laboratories. However, this has exposed many issues with the analysis and reporting of variants for clinical diagnostic use. Implementing a high-throughput sequencing (NGS) clinical reporting system requires a diverse combination of capabilities, statistical methods to identify variants, global variant databases, a validated bioinformatics pipeline, an auditable laboratory workflow, reproducible clinical assays and quality control monitoring throughout...
April 24, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28438095/arcobacter-an-emerging-food-borne-zoonotic-pathogen-its-public-health-concerns-and-advances-in-diagnosis-and-control-a-comprehensive-review
#4
Thadiyam Puram Ramees, Kuldeep Dhama, Kumaragurubaran Karthik, Ramswaroop Singh Rathore, Ashok Kumar, Mani Saminathan, Ruchi Tiwari, Yashpal Singh Malik, Raj Kumar Singh
Arcobacter has emerged as an important food-borne zoonotic pathogen, causing sometimes serious infections in humans and animals. Newer species of Arcobacter are being incessantly emerging (presently 25 species have been identified) with novel information on the evolutionary mechanisms and genetic diversity among different Arcobacter species. These have been reported from chickens, domestic animals (cattle, pigs, sheep, horses, dogs), reptiles (lizards, snakes and chelonians), meat (poultry, pork, goat, lamb, beef, rabbit), vegetables and from humans in different countries...
April 25, 2017: Veterinary Quarterly
https://www.readbyqxmd.com/read/28433102/the-genetics-of-wilson-disease
#5
Irene J Chang, Si Houn Hahn
Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due to the marked heterogeneity in age of onset and clinical presentation, the diagnosis of Wilson disease remains challenging to physicians today. Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method, and concurrent biochemical testing improves diagnostic accuracy...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28428191/the-role-of-minimal-residual-disease-testing-in-myeloma-treatment-selection-and-drug-development-current-value-and-future-applications
#6
Kenneth C Anderson, Daniel Auclair, Gary J Kelloff, Caroline C Sigman, Herve Avet-Loiseau, Ann T Farrell, Nicole J Gormley, Shaji K Kumar, Ola Landgren, Nikhil C Munshi, Michele Cavo, Faith E Davies, Alessandra Di Bacco, Jennifer S Dickey, Steven I Gutman, Howard R Higley, Mohamad A Hussein, J Milburn Jessup, Ilan R Kirsch, Richard F Little, Robert D Loberg, Jens G Lohr, Lata Mukundan, James L Omel, Trevor J Pugh, Gregory H Reaman, Michael D Robbins, A Kate Sasser, Nancy Valente, Elena Zamagni
Treatment of myeloma has benefited from the introduction of more effective and better tolerated agents, improvements in supportive care, better understanding of disease biology, revision of diagnostic criteria, and new sensitive and specific tools for disease prognostication and management. Assessment of minimal residual disease (MRD) in response to therapy is one of these tools, as longer progression-free survival (PFS) is seen consistently among patients who have achieved MRD negativity. Current therapies lead to unprecedented frequency and depth of response, and next generation flow and sequencing methods to measure MRD in bone marrow are in use and being developed with sensitivities in the range of 10(-5)‒10(-6) cells...
April 20, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28427963/molecular-investigation-of-piroplasma-infection-in-white-yaks-bos-grunniens-in-gansu-province-china
#7
Sitong Li, Junlong Liu, Aihong Liu, Youquan Li, Shuqing Wang, Shufang Wang, Hong Yin, Jianxun Luo, Guiquan Guan
Piroplasmosis, including theileriosis and babesiosis, is a tick-borne haemoprotozoan disease responsible for huge economic losses to livestock industry. In China, the biology of piroplasms infective to cattle was well understood on the basis of pathogen isolations and molecular epidemiological surveys in the past few decades. But very limited information about the infection status of piroplasms in white yak (Bos grunniens), a semi-wild and endemic breed, has been recorded, so far. A total of 350 blood samples was collected from white yaks in 11 towns of Tianzhu Tibetan Autonomous County of Gansu province, China, during April to July 2015...
April 17, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28427796/molecular-methods-for-septicemia-diagnosis
#8
Francesc Marco
Septicemia remains a major cause of hospital mortality. Blood culture remains the best approach to identify the etiological microorganisms when a bloodstream infection is suspected but it takes long time because it relies on bacterial or fungal growth. The introduction in clinical microbiology laboratories of the matrix-assisted laser desorption ionization time-of-flight mass spectrometry technology, DNA hybridization, microarrays or rapid PCR-based test significantly reduce the time to results. Tests for direct detection in whole blood samples are highly desirable because of their potential to identify bloodstream pathogens without waiting for blood cultures to become positive...
April 17, 2017: Enfermedades Infecciosas y Microbiología Clínica
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#9
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28425520/an-innovative-chemical-strategy-for-pcr-free-genetic-detection-of-pathogens-by-an-integrated-electrochemical-biosensor
#10
S Petralia, E L Sciuto, M L Di Pietro, M Zimbone, M G Grimaldi, S Conoci
An innovative chemical strategy integrated in a miniaturized electrochemical device was developed for sensitive detection of a pathogen genome (HBV virus) without any amplification step. The results show a limit of detection comparable to the standard qRT-PCR method (20 copies per reaction), paving the way to future development of genetic PoC devices addressing automatized and low-cost molecular diagnostics.
April 20, 2017: Analyst
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#11
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28423635/quantification-of-her2-and-estrogen-receptor-heterogeneity-in-breast-cancer-by-single-molecule-rna-fluorescence-in-situ-hybridization
#12
Laura Annaratone, Michele Simonetti, Erik Wernersson, Caterina Marchiò, Silvano Garnerone, Maria Stella Scalzo, Magda Bienko, Roberto Chiarle, Anna Sapino, Nicola Crosetto
Intra-tumor heterogeneity is a pervasive property of human cancers that poses a major clinical challenge. Here, we describe the characterization, at the transcriptional level, of the intra-tumor topography of two prominent breast cancer biomarkers and drug targets, epidermal growth factor receptor 2 (HER2) and estrogen receptor 1 (ER) in 49 archival breast cancer samples. We developed a protocol for single-molecule RNA FISH in formalin-fixed, paraffin-embedded tissue sections (FFPE-smFISH), which enabled us to simultaneously detect and perform absolute quantification of HER2 and ER mature transcripts in single cells and multiple tumor regions...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422729/the-relevance-of-a-low-jak2v617f-allele-burden-in-clinical-practice-a-monocentric-study
#13
Margherita Perricone, Nicola Polverelli, Giovanni Martinelli, Lucia Catani, Emanuela Ottaviani, Elisa Zuffa, Eugenia Franchini, Arbana Dizdari, Dorian Forte, Elena Sabattini, Michele Cavo, Nicola Vianelli, Francesca Palandri
Since low JAK2V617F allele burden (AB) has been detected also in healthy subjects, its clinical interpretation may be challenging in patients with chronic myeloproliferative neoplasms (MPNs). We tested 1087 subjects for JAK2V617F mutation on suspicion of hematological malignancy. Only 497 (45.7%) patients were positive. Here we present clinical and laboratory parameters of a cohort of 35/497 patients with an AB ≤ 3%.Overall, 22/35 (62.9%) received a WHO-defined diagnosis of MPN and in 14/35 cases (40%) diagnosis was supported by bone marrow (BM) histology (''Histology-based'' diagnosis)...
March 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415989/evaluation-of-genotype-mtbdrplus-ver-2-0-line-probe-assay-for-the-detection-of-mdr-tb-in-smear-positive-and-negative-sputum-samples
#14
Abyot Meaza, Abebaw Kebede, Zelalem Yaregal, Zekarias Dagne, Shewki Moga, Bazezew Yenew, Getu Diriba, Helina Molalign, Mengistu Tadesse, Desalegn Adisse, Muluwork Getahun, Kassu Desta
BACKGROUND: Multi drug resistant tuberculosis (MDR-TB) poses formidable challenges to TB control due to its complex diagnostic and treatment challenges and often associated with a high rate of mortality. Accurate and rapid detection of MDR-TB is critical for timely initiation of treatment. Line Probe Assay (LPA) is a qualitative in vitro diagnostic test based on DNA-STRIP technology for the identification of the M. tuberculosis complex and its resistance to rifampicin (RMP) and/or isoniazid (INH)...
April 17, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28415685/identification-of-molecular-targets-for-esophageal-carcinoma-diagnosis-using-mirna-seq-and-rna-seq-data-from-the-cancer-genome-atlas-a-study-of-187-cases
#15
Jiang-Hui Zeng, Dan-Dan Xiong, Yu-Yan Pang, Yu Zhang, Rui-Xue Tang, Dian-Zhong Luo, Gang Chen
Esophageal carcinoma (ESCA) is one of the most common malignancies worldwide, and its pathogenesis is complex. In this study, we identified differentially expressed miRNAs (DEMs) and genes (DEGs) of ESCA from The Cancer Genome Atlas (TCGA) database. The diagnostic values of DEMs were determined by receiver operating characteristic (ROC) analyses and validated based on data from Gene Expression Omnibus (GEO). The top five DEMs with the best diagnostic values were selected, and their potential targets were predicted by various in silico methods...
March 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414187/metatropic-dysplasia-in-third-trimester-of-pregnancy-and-a-novel-causative-variant-in-the-trpv4-gene
#16
Sara Bargiacchi, Matteo Della Monica, Roberto Biagiotti, Elena Andreucci, Serena Ciabattoni, Paolo Poggi, Marco Di Maurizio, Claudio Defilippi, Ettore Cariati, Sabrina Giglio
Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomonic for a specific disorder. The diagnosis is often made just after birth or exitus. The prenatal diagnosis of osteochondrodysplasias is based predominantly upon fetal ultrasound findings and it focuses substantially on the possible lethality of the disorder, without always being able to find a specific name for the disorder...
April 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28411822/label-free-and-sensitive-assay-for-deoxyribonuclease-i-activity-based-on-enzymatically-polymerized-superlong-poly-thymine-hosted-fluorescent-copper-nanoparticles
#17
Lan Luo, Fengzhou Xu, Hui Shi, Xiaoxiao He, Taiping Qing, Yanli Lei, Jinlu Tang, Dinggeng He, Kemin Wang
Deoxyribonuclease I (DNase I) is an important physiological indicator and diagnostic biomarker, but traditional methods for assessing its activity are time-consuming, laborious, and usually radioactive. Herein, by effectively combining the special functions of DNase I and terminal deoxynucleotidyl transferase (TdT), a simple, green, cost-effective, label-free and ultrasensitive assay for DNase I activity has been constructed based on superlong poly(thymine)-hosted copper nanoparticles (poly T-CuNPs). In this strategy, a 3'-phosphorylated DNA primer is designed to block TdT polymerization...
July 1, 2017: Talanta
https://www.readbyqxmd.com/read/28410425/the-cobas%C3%A2-hcv-gt-is-a-new-tool-that-accurately-identifies-hepatitis-c-virus-genotypes-for-clinical-practice
#18
COMPARATIVE STUDY
J A Fernández-Caballero, M Alvarez, N Chueca, A B Pérez, F García
OBJECTIVE: We aimed to evaluate the correct assignment of HCV genotype/subtypes 1a and 1b by cobas® HCV genotyping (GT) assay (Roche Molecular Diagnostics) compared with nonstructural protein 5B (NS5B) sequencing. PATIENTS AND METHODS: Clinical samples from 153 patients submitted for HCV genotyping were studied. After genotyping with the cobas® HCV GT, sequencing of a 387 bp fragment in the NS5B gene and phylogenetic analysis was employed to compare genotyping results...
2017: PloS One
https://www.readbyqxmd.com/read/28410288/the-utility-of-the-combination-of-a-spect-study-with-123i-fp-cit-of-dopamine-transporters-and-123i-mibg-myocardial-scintigraphy-in-differentiating-parkinson-disease-from-other-degenerative-parkinsonian-syndromes
#19
Naoto Uyama, Hideki Otsuka, Takayoshi Shinya, Yoichi Otomi, Masafumi Harada, Wataru Sako, Yuishin Izumi, Ryuji Kaji, Yuya Watanabe, Satoru Takashi, Yamato Kunikane
OBJECTIVE: Molecular imaging of nigrostriatal dopamine transporters (DAT) and sympathetic cardiac innervation with single-photon emission computed tomography (SPECT) are useful tools for differentiating idiopathic Parkinson disease (PD) from other degenerative parkinsonian syndromes (non-PD). Nevertheless, these modalities are often insufficient for achieving a definite diagnosis. The aims of this study were to evaluate the diagnostic accuracy of the combination of these tools. MATERIALS AND METHODS: The SPECT radiotracers [I]-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)-nortropane (FP-CIT) and meta-[I]-iodobenzylguanidine (MIBG) were used to research presynaptic dopaminergic projections (DAT SPECT) and myocardial adrenergic innervation (MIBG scintigraphy), respectively...
April 13, 2017: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/28405674/-new-developments-in-molecularbiological-diagnostic
#20
Christine Mannhalter
Today, we have access to excellent and advanced molecular methods that are already widely used. This requires rules to control the quality of the methods as well as the laboratory. Both aspects will be discussed in the article. Following the isolation of nucleic acids they are used for genotyping which allows to address several questions: diagnosis of inherited diseases, inherited predispositions, forensic analyses, identification and typing of bacteria or viruses, elucidation of evolutionary aspects. Importantly, it has to be realized that the type and heterogeneity of phenotypically relevant mutations determines the method used for testing...
April 13, 2017: Hämostaseologie
keyword
keyword
57027
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"