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Molecular diagnostics

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https://www.readbyqxmd.com/read/29792512/use-of-t2mr-in-invasive-candidiasis-with-and-without-candidemia
#1
Ioannis M Zacharioudakis, Fainareti N Zervou, Eleftherios Mylonakis
The mortality associated with invasive candidiasis remains unacceptably high. The T2 magnetic resonance (T2MR) assay is a novel US FDA-approved molecular diagnostic assay for the diagnosis of candidemia that can rapidly detect the five most commonly isolated Candida spp. In clinical trials, T2MR has exhibited good clinical sensitivity and specificity. Potential benefits from the adoption of T2MR technology in the diagnostic and therapeutic algorithms for invasive candidiasis can arise from timely diagnosis of disease, increased case detection, tailored therapy and decrease in empiric antifungal treatment...
May 24, 2018: Future Microbiology
https://www.readbyqxmd.com/read/29792326/common-principles-of-molecular-electronics-and-nanoscale-electrochemistry
#2
Paulo Roberto Bueno
The merging of nanoscale electronics and electrochemistry can potentially modernize the way electronic devices are currently engineered or constructed. It is well known that the greatest challenges will involve not only miniaturizing and improving the performance of mobile devices, but also manufacturing reliable electrical vehicles, and engineering more efficient solar panels and energy storage systems. These are just a few examples of how technological innovation is dependent on both electrochemical and electronic elements...
May 24, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29792263/an-update-on-the-use-of-immunohistochemistry-and-molecular-pathology-in-the-diagnosis-of-pre-invasive-and-malignant-lesions-in-gynecological-oncology
#3
REVIEW
Emmanouil Kalampokas, Fiona Payne, Mahalakshmi Gurumurthy
OBJECTIVE: One of the most common challenges in everyday clinical practice of gynecological oncology is to identify the type and the primary origin of a tumor. This is a crucial step in the management, treatment, prognosis, and survival of patients suffering from a gynecological malignancy. Immunohistochemistry has been widely adopted over the last three decades in pathology laboratories all over the world. Recent advances in our understanding of the differentiation of gynecological tumors based on immunohistochemical expression have resulted in use of immunohistochemistry as a major diagnostic tool in gynecology, for precise tumor classification...
May 21, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29791949/the-global-neurological-burden-of-tuberculosis
#4
Kiran Thakur, Mitashee Das, Kelly E Dooley, Amita Gupta
Central nervous system (CNS) involvement of tuberculosis (TB) is the most severe manifestation of TB and accounts for approximately 5 to 10% of all extrapulmonary TB (EPTB) cases and approximately 1% of all TB cases. TB meningitis (TBM) is the most common form of CNS TB, though other forms occur, often in conjunction with TBM, including intracranial tuberculomas, tuberculous brain abscesses, and spinal tubercular arachnoiditis. CNS TB often presents with nonspecific clinical features that mimic symptoms of other neurological conditions, often making diagnosis difficult...
April 2018: Seminars in Neurology
https://www.readbyqxmd.com/read/29791546/rapid-molecular-test-for-tuberculosis-impact-of-its-routine-use-at-a-referral-hospital
#5
Marilda Casela, Silvânia Maria Andrade Cerqueira, Thais de Oliveira Casela, Mariana Araújo Pereira, Samanta Queiroz Dos Santos, Franco Andres Del Pozo, Songeli Menezes Freire, Eliana Dias Matos
OBJECTIVE: To evaluate the impact of the use of the molecular test for Mycobacterium tuberculosis and its resistance to rifampin (Xpert MTB/RIF), under routine conditions, at a referral hospital in the Brazilian state of Bahia. METHODS: This was a descriptive study using the database of the Mycobacteriology Laboratory of the Octávio Mangabeira Specialized Hospital, in the city of Salvador, and georeferencing software. We evaluated 3,877 sputum samples collected from symptomatic respiratory patients, under routine conditions, between June of 2014 and March of 2015...
April 2018: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/29791171/-diagnosis-of-mody-brief-overview-for-clinical-practice
#6
Jana Urbanová, Ludmila Brunerová, Jan Brož
Maturity Onset Diabetes of the Young (MODY) comprises inherited forms of diabetes mellitus caused by the mutations in the genes involved in the development, differentiation and function of beta-cells. The majority of patients with MODY remains misdiagnosed and erroneously classified as type 1 or type 2 diabetic patients. Correct MODY diagnosis is, however, essential since it enables individualization of treatment, assessment of the prognosis and identification of diabetes among patient´s relatives. Clinical presentation of MODY is highly variable and it could resemble other types of diabetes, thus identification of MODY patients might be difficult...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29790871/phenotypic-expansion-illuminates-multilocus-pathogenic-variation
#7
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir, Sevcan Bozdogan, Gozde Yesil, Sedat Isikay, Donna Muzny, Richard A Gibbs, James R Lupski
PurposeMultilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a "known" disease gene.MethodsAnalyses focused on 106 patients, 19 for whom apparent phenotypic expansion was previously attributed to variation at known disease genes. We performed a retrospective computational reanalysis of whole-exome sequencing data using stringent Variant Call File filtering criteria to determine whether molecular diagnoses involving additional disease loci might explain the observed expanded phenotypes...
April 26, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29790810/a-review-of-novel-technologies-and-techniques-associated-with-identification-of-bloodstream-infection-aetiologies-and-rapid-antimicrobial-genotypic-and-quantitative-phenotypic-determination
#8
Stephen Poole, Stephen P Kidd, Kordo Saeed
Introduction The antimicrobial aspect of management of patients with blood stream infections (BSI) and sepsis is time critical. In an era of increasing antimicrobial resistance, rapid detection and identification of bacteria with antimicrobial susceptibility is crucial to direct therapy early in the course of illness. Molecular techniques offer a potential solution to this. Areas covered In the present review the authors have discussed a number of novel solutions utilising a variety of molecular techniques for pathogen detection, identification and antimicrobial susceptibility...
May 23, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29790681/multiple-primary-lung-cancer-a-literature-review
#9
REVIEW
Anna M Romaszko, Anna Doboszyńska
Nowadays, lung cancer is a leading cause of death in both men and women worldwide. There is no clear explanation for its mortality rate. However, it is already known that genetic and environmental factors as well as oncological treatment are involved. As the incidence of lung cancer soars, the number of patients diagnosed with multiple primary lung cancers (MPLC) is also rising. While differentiating between MPLC and intrapulmonary metastasis of lung cancer is important for treatment strategy and prognosis, it is also quite complicated, particularly in the cases with similar histologies...
April 19, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29790273/serological-cultural-and-molecular-evidence-of-brucella-melitensis-infection-in-goats-in-al-jabal-al-akhdar-sultanate-of-oman
#10
Yasmin ElTahir, Al Ghalya Al Toobi, Waleed Al-Marzooqi, Osman Mahgoub, Maryne Jay, Yannick Corde, Hadi Al Lawati, Shekar Bose, Abeer Al Hamrashdi, Kaadhia Al Kharousi, Nasseb Al-Saqri, Rudaina Al Busaidi, Eugene H Johnson
Brucellosis, one of the most common zoonotic diseases and has significant public health and economic importance worldwide. Few studies and reports have been performed to estimate the true prevalence of animal brucellosis in the Sultanate of Oman; however, no incidence of the disease was previously reported in Al Jabal Al Akhdar. The purpose of this study was to investigate the prevalence of brucellosis in goats in eight villages in Al Jebal Al Akhdar, Sultanate of Oman, namely: Al Aqaieb, Al Helailat, Al Ghilayil, Hail Al Hedap, Da'an Al Hamra, Shnoot, Al Qasha'e and Al Sarah, Al Jabal Al Akhdar in the Sultanate of Oman...
May 23, 2018: Veterinary Medicine and Science
https://www.readbyqxmd.com/read/29789958/prosthetic-joint-infections-an-update
#11
REVIEW
C L Abad, A Haleem
PURPOSE OF REVIEW: Prosthetic joint infection (PJI) is a rare but serious complication that is frequently misdiagnosed. We aimed to highlight the nuances of PJI diagnosis and antimicrobial therapies and provide clarity in key areas of management. RECENT FINDINGS: Current research in PJI centers on a potential role for diagnostic biomarkers, molecular techniques, and implant sonication to reduce culture-negativity rates. The optimal duration of antimicrobial therapy remains controversial...
May 22, 2018: Current Infectious Disease Reports
https://www.readbyqxmd.com/read/29789446/validation-of-ion-torrent-tm-inherited-disease-panel-with-the-pgm-tm-sequencing-platform-for-rapid-and-comprehensive-mutation-detection
#12
Abeer E Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R Al-Mubarak, Nada A Al Tassan
Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehensive, quick, and precise interrogation of many genetic variations. As a result, these technologies have become a valuable tool for gene discovery and for clinical diagnostics. The AmpliSeq Inherited Disease Panel (IDP) consists of 328 genes underlying more than 700 inherited diseases...
May 22, 2018: Genes
https://www.readbyqxmd.com/read/29788743/novel-insights-into-transcriptional-dysregulation-in-colorectal-cancer
#13
Y Feodorova, D Tashkova, I Koev, A Todorov, G Kostov, K Simitchiev, V Belovejdov, R Dimov, V Sarafian
Colorectal cancer (CRC) is a leading cause of cancer-related mortality worldwide. Although CRC has been comprehensively characterized at the molecular level, the tumor heterogeneity hinders the identification of reliable diagnostic, prognostic and predictive biomarkers. Molecular stratification of CRC is based on prevalent gene mutations and transcription profiles but its significance for clinical practice remains obscure. Indeed, activating mutations in the genes KRAS, NRAS and BRAF are the only predictive biomarkers for anti-EGFR antibody therapy routinely tested the clinic for advanced stages of CRC...
March 14, 2018: Neoplasma
https://www.readbyqxmd.com/read/29788324/the-application-of-coi-gene-for-species-identification-of-forensically-important-muscid-flies-diptera-muscidae
#14
Lipin Ren, Wei Chen, Yanjie Shang, Fanming Meng, Lagabaiyila Zha, Yong Wang, Yadong Guo
Muscid Flies (Diptera: Muscidae) are of great forensic importance due to their wide distribution, ubiquitous and synanthropic nature. They are frequently neglected as they tend to arrive at the corpses later than the flesh flies and blow flies. Moreover, the lack of species-level identification also hinders investigation of medicolegal purposes. To overcome the difficulty of morphological identification, molecular method has gained relevance. Cytochrome c oxidase subunit I (COI) gene has been widely utilized...
May 17, 2018: Journal of Medical Entomology
https://www.readbyqxmd.com/read/29788237/diagnostic-yield-of-next-generation-sequencing-in-very-early-onset-inflammatory-bowel-diseases-a-multicenter-study
#15
Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux-Laucat, Eva Lévy, Marie-Claude Stolzenberg, Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fischer, Capucine Picard, Marina Aloi, Jorge Amil Dias, Mongi Ben Hariz, Anne Bourrier, Christian Breuer, Anne Breton, Jiri Bronski, Stephan Buderus, Mara Cananzi, Stéphanie Coopman, Clara Crémilleux, Alain Dabadie, Clémentine Dumant-Forest, Odul Egritas Gurkan, Alexandre Fabre, Aude Fischer, Marta German Diaz, Yago Gonzalez-Lama, Olivier Goulet, Graziella Guariso, Neslihan Gurcan, Matjaz Homan, Jean-Pierre Hugot, Eric Jeziorski, Evi Karanika, Alain Lachaux, Peter Lewindon, Rosa Lima, Fernando Magro, Janos Major, Georgia Malamut, Emmanuel Mas, Istvan Mattyus, Luisa M Mearin, Jan Melek, Victor Manuel Navas-Lopez, Anders Paerregaard, Cecile Pelatan, Bénédicte Pigneur, Isabel Pinto Pais, Julie Rebeuh, Claudio Romano, Nadia Siala, Caterina Strisciuglio, Michela Tempia-Caliera, Patrick Tounian, Dan Turner, Vaidotas Urbonas, Stéphanie Willot, Frank M Ruemmele, Nadine Cerf-Bensussan
Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases (VEO-IBD). The present study aimed at defining how next-generation sequencing (NGS) methods can be used to improve identification of known molecular diagnosis and adapt treatment. Methods: 207 children were recruited in 45 Paediatric centres through an international collaborative network (ESPGHAN GENIUS working group) with a clinical presentation of severe VEO-IBD (n=185) or an anamnesis suggestive of a monogenic disorder (n=22)...
May 18, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29788016/aedes-communis-reactivity-is-associated-with-bee-venom-hypersensitivity-an-in-vitro-and-in-vivo-study
#16
Enrico Scala, Lia Pirrotta, Carina G Uasuf, Gianni Mistrello, Stefano Amato, Emma Cristina Guerra, Maria Locanto, Giorgia Meneguzzi, Mauro Giani, Lorenzo Cecchi, Damiano Abeni, Riccardo Asero
Mosquito bite is usually followed by a local reaction, but severe or systemic reaction may, in rare cases, occur. Allergic reactions to Aedes communis (Ac) may be underestimated due to the lack of reliable diagnostic tools. In this multicenter study, 205 individuals reporting large local reactions to Ac were enrolled and studied for cutaneous or IgE reactivity to Ac, Blattella germanica, Penaeus monodon, and Dermatophagoides pteronyssinus. Extract and molecular IgE reactivity to bees, wasps, hornets, and yellow jacket venoms were also studied in 119 patients with a clinical history of adverse reaction to Hymenoptera...
May 22, 2018: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29787889/diagnosis-of-bloodstream-infections-from-positive-blood-cultures-and-directly-from-blood-samples-recent-developments-in-molecular-approaches
#17
REVIEW
Nilay Peker, Natacha Couto, Bhanu Sinha, John W Rossen
BACKGROUND: Bloodstream infections are a major cause of death with increasing incidence and severity. Blood cultures are still the gold standard for microbiological diagnosis, but are rather slow. Molecular methods can be used as add-on complementary assays. They can be useful to speed up microbial identification and to predict antimicrobial susceptibility, applied to direct blood samples or positive blood cultures. AIM: To review recent developments in molecular based diagnostic platforms used for the identification of bloodstream infections, with a focus on assays performed directly on blood samples and positive blood cultures...
May 19, 2018: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/29787599/pathological-molecular-mechanism-of-symptomatic-late-onset-fuchs-endothelial-corneal-dystrophy-by-bioinformatic-analysis
#18
Zekai Cui, Qiaolang Zeng, Yonglong Guo, Shiwei Liu, Peiyuan Wang, Mengyuan Xie, Jiansu Chen
Fuchs endothelial corneal dystrophy (FECD) is a degenerative disease characterized by corneal endothelial decompensation. FECD causes corneal stromal and epithelial edema and progressively develops into bullous keratopathy, which can eventually lead to blindness. However, the exact pathogenesis is unknown. In this study, we performed an in-depth bioinformatic analysis of the dataset GSE74123 to determine the differentially expressed genes (DEGs) of symptomatic late-onset FECD compared with a normal control...
2018: PloS One
https://www.readbyqxmd.com/read/29787394/new-developments-in-the-genetic-diagnosis-of-short-stature
#19
Youn Hee Jee, Jeffrey Baron, Ola Nilsson
PURPOSE OF REVIEW: Genome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability to identify genetic causes of human disorders. The purpose of this review is to describe recent advances in the genetic causes of short stature. RECENT FINDINGS: In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, aggrecan, C-natriuretic peptide, C-type natriuretic peptide (CNP), NPR2 (CNP receptor), protein tyrosine phosphatase, non-receptor type 11(PTPN11) (and other rasopathies), Fibrillin 1 (FBN1), IHH and BMP2 have been identified in isolated growth disorders with or without other mild skeletal findings...
May 18, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29785639/development-of-a-molecular-diagnostic-test-for-retinitis-pigmentosa-in-the-japanese-population
#20
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
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