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Molecular Diagnosis

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https://www.readbyqxmd.com/read/28213975/lab-in-a-tube-real-time-molecular-point-of-care-diagnostics-for-influenza-a-and-b-using-the-cobas%C3%A2-liat%C3%A2-system
#1
Willem Jg Melchers, Judith Kuijpers, Joanna Sickler, Janette Rahamat-Langendoen
BACKGROUND: Rapid diagnosis of influenza A and B is important for direct treatment decisions in patient care and for the reduction of in-hospital transmissions. The new real-time PCR based molecular point-of-care (POC) assay, the cobas(®) Influenza A/B test on the cobas(®) Liat® System (cobas(®) Liat® Influenza A/B assay), generated a PCR result in less than 20 minutes, was evaluated for the detection of influenza A and B. METHOD OF THE STUDY: 121 retrospectively collected respiratory specimens, previously analyzed with a routine influenza A/B test (Diagenode) were tested using the cobas(®) Liat® Influenza A/B assay...
February 18, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28213135/genetic-variants-in-the-peripheral-auditory-system-significantly-affect-adult-cochlear-implant-performance
#2
A Eliot Shearer, Robert W Eppsteiner, Kathy Frees, Viral Tejani, Christina M Sloan-Heggen, Carolyn Brown, Paul Abbas, Camille Dunn, Marlan R Hansen, Bruce J Gantz, Richard J H Smith
BACKGROUND: Cochlear implantation is an effective habilitation modality for adults with significant hearing loss. However, post-implant performance is variable. A portion of this variance in outcome can be attributed to clinical factors. Recent physiological studies suggest that the health of the spiral ganglion also impacts post-operative cochlear implant outcomes. The goal of this study was to determine whether genetic factors affecting spiral ganglion neurons may be associated with cochlear implant performance...
February 14, 2017: Hearing Research
https://www.readbyqxmd.com/read/28212654/diversity-and-distribution-of-avian-malaria-and-related-haemosporidian-parasites-in-captive-birds-from-a-brazilian%C3%A2-megalopolis
#3
Carolina Romeiro Fernandes Chagas, Gediminas Valkiūnas, Lilian de Oliveira Guimarães, Eliana Ferreira Monteiro, Fernanda Junqueira Vaz Guida, Roseli França Simões, Priscila Thihara Rodrigues, Expedito José de Albuquerque Luna, Karin Kirchgatter
BACKGROUND: The role of zoos in conservation programmes has increased significantly in last decades, and the health of captive animals is essential to guarantee success of such programmes. However, zoo birds suffer from parasitic infections, which often are caused by malaria parasites and related haemosporidians. Studies determining the occurrence and diversity of these parasites, aiming better understanding infection influence on fitness of captive birds, are limited. METHODS: In 2011-2015, the prevalence and diversity of Plasmodium spp...
February 17, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28212608/transcriptomic-dynamics-of-breast-cancer-progression-in-the-mmtv-pymt-mouse-model
#4
Ying Cai, Ruben Nogales-Cadenas, Quanwei Zhang, Jhih-Rong Lin, Wen Zhang, Kelly O'Brien, Cristina Montagna, Zhengdong D Zhang
BACKGROUND: Malignant breast cancer with complex molecular mechanisms of progression and metastasis remains a leading cause of death in women. To improve diagnosis and drug development, it is critical to identify panels of genes and molecular pathways involved in tumor progression and malignant transition. Using the PyMT mouse, a genetically engineered mouse model that has been widely used to study human breast cancer, we profiled and analyzed gene expression from four distinct stages of tumor progression (hyperplasia, adenoma/MIN, early carcinoma and late carcinoma) during which malignant transition occurs...
February 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28212372/molecular-biology-of-gastroesophageal-cancers-opportunities-and-challenges
#5
Shaheer Khan, Sameh Mikhail, Joanne Xiu, Mohamed E Salem
Gastroesophageal (GE) malignancies make up a significant and growing segment of newly diagnosed cancers. Approximately 80% of patients who have GE cancers die within 5 years of diagnosis, which means that effective treatments for these malignancies need to be found. Currently, targeted therapies have a minimal role in this disease group. Intensive study of the molecular biology of GE cancers is a relatively new and ongoing venture, but it has already led to a significant increase in our understanding of these malignancies...
January 2017: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/28212271/carbon-nanotubes-as-an-effective-opportunity-for-cancer-diagnosis-and-treatment
#6
REVIEW
Alessandro Sanginario, Beatrice Miccoli, Danilo Demarchi
Despite the current progresses of modern medicine, the resistance of malignant tumors to present medical treatments points to the necessity of developing new therapeutic approaches. In recent years, numerous studies have focused their attention on the promising use of nanomaterials, like iron oxide nanowires, zinc oxide or mesoporous silica nanoparticles, for cancer and metastasis treatment with the advantage of operating directly at the bio-molecular scale. Among them, carbon nanotubes emerged as valid candidates not only for drug delivery, but also as a valuable tool in cancer imaging and physical ablation...
February 15, 2017: Biosensors
https://www.readbyqxmd.com/read/28212175/advances-in-epilepsy-gene-discovery-and-implications-for-epilepsy-diagnosis-and-treatment
#7
Joseph D Symonds, Sameer M Zuberi, Michael R Johnson
PURPOSE OF REVIEW: Epilepsy genetics is shifting from the academic pursuit of gene discovery to a clinical discipline based on molecular diagnosis and stratified medicine. We consider the latest developments in epilepsy genetics and review how gene discovery in epilepsy is influencing the clinical classification of epilepsy and informing new therapeutic approaches and drug discovery. RECENT FINDINGS: Recent studies highlighting the importance of mutation in GABA receptors, NMDA receptors, potassium channels, G-protein coupled receptors, mammalian target of rapamycin pathway and chromatin remodeling are discussed...
February 15, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28212155/molecular-markers-in-lung-cancer-role-of-ebus
#8
Semra Bilaçeroğlu
PURPOSE OF REVIEW: As demonstrated by the recent therapeutic advances in nonsmall cell lung cancer (NSCLC), a personalized approach can considerably reduce its mortality. RECENT FINDINGS: Molecular tests identifying genetic mutations in NSCLC have led to a shift towards more effective and personalized therapies targeted to these alterations. Adequate tissue is required for diagnosing, subcharacterizing, and genotyping NSCLC by morphological, immunohistochemical, and molecular techniques...
February 16, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28211342/key-issues-in-hymenoptera-venom-allergy-an-update
#9
REVIEW
T Alfaya Arias, V Soriano Gómis, T Soto Mera, A Vega Castro, J M Vega Gutiérrez, A Alonso Llamazares, D Antolín Amérigo, F J Carballada Gonzalez, C Dominguez Noche, D Gutierrez Fernandez, L Marques Amat, A Martinez Arcediano, M Martinez San Ireneo, A Moreno Ancillo, Y Puente Crespo, B Ruiz Leon, L Sánchez Morillas
In this review, the Hymenoptera Allergy Committee of the SEAIC analyzes the most recent scientific literature addressing problems related to the diagnosis of hymenoptera allergy and to management of venom immunotherapy. Molecular diagnosis and molecular risk profiles are the key areas addressed. The appearance of new species of hymenoptera that are potentially allergenic in Spain and the associated diagnostic and therapeutic problems are also described. Finally, we analyze the issue of mast cell activation syndrome closely related to hymenoptera allergy, which has become a new diagnostic challenge for allergists given its high prevalence in patients with venom anaphylaxis...
2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28211264/genetics-diagnosis-and-clinical-features-of-congenital-hypodysfibrinogenaemia-a-systematic-literature-review-and-report-of-a-novel-mutation
#10
A Casini, T Brungs, C Lavenu-Bombled, R Vilar, M Neerman-Arbez, P de Moerloose
BACKGROUND: Hypodysfibrinogenaemia is a rare disease characterised by decreased levels of a dysfunctional fibrinogen. It shares features with both hypo- and dysfibrinogenaemia, although with specific molecular patterns and clinical phenotypes. OBJECTIVES: To better define the genetics, the diagnosis and the clinical features of hypodysfibrinogenaemia. PATIENTS/METHODS: A systematic literature search led to 167 records. After removal of duplicates, abstract screening and full-text reviewing, 56 molecular and/or clinical studies were analysed, including a novel FGB missense mutation in a woman with a mild bleeding phenotype...
February 16, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#11
Pulukool Sandhya, Shamsudheen Karuthedath Vellarikkal, Aswin Nair, Rowmika Ravi, John Mathew, Rijith Jayarajan, Anoop Kumar, Ankit Verma, Ambily Sivadas, Debashish Danda, Sridhar Sivasubbu, Vinod Scaria
Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c...
February 17, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#12
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28211215/zkscan1-gene-and-its-related-circular-rna-circzkscan1-both-inhibit-hepatocellular-carcinoma-cell-growth-migration-and-invasion-but-through-different-signaling-pathways
#13
Zhicheng Yao, Jingyan Luo, Kunpeng Hu, Jizong Lin, He Huang, Qiangliang Wang, Peng Zhang, Zhiyong Xiong, Zejian Huang, Chonghua He, Bo Liu, Yang Yang
There is increasing evidence that circular RNAs (circRNAs) are involved in cancer development, but the regulation and function of human circRNAs remain largely unknown. In this study, we demonstrated that ZKSCAN1, a zinc finger family gene, is expressed in both linear and circular (circZKSCAN1) forms of RNA in human hepatocellular carcinoma (HCC) tissues and cell lines. Here, we analyzed a cohort of 102 patients and found that expression of both ZKSCAN1 mRNA and circZKSCAN1 was significantly lower (P<0.05) in the HCC samples compared with that in matched adjacent non-tumorous tissues by reverse transcription PCR (RT-PCR)...
February 16, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28211079/gata3-expression-in-triple-negative-breast-cancers
#14
David J Byrne, Siddhartha Deb, Elena A Takano, Stephen B Fox
AIMS: GATA-binding protein 3 (GATA3) is a well-studied transcription factor found to be essential in the development of luminal breast epithelium and has been identified in a variety of tumour types including breast and urotheilial carcinomas making it a useful immunohistochemistry marker in the diagnosis of both primary and metastatic disease. METHODS AND RESULTS: We investigated GATA3 protein expression in a 106 primary triple negative breast carcinomas (100 basal-like, 6 non-basal-like) using Cell Marque mouse monoclonal anti-GATA3 (L50-823)...
February 17, 2017: Histopathology
https://www.readbyqxmd.com/read/28210245/pcr-inhibition-of-a-quantitative-pcr-for-detection-of-mycobacterium-avium-subspecies-paratuberculosis-dna-in-feces-diagnostic-implications-and-potential-solutions
#15
Kamal R Acharya, Navneet K Dhand, Richard J Whittington, Karren M Plain
Molecular tests such as polymerase chain reaction (PCR) are increasingly being applied for the diagnosis of Johne's disease, a chronic intestinal infection of ruminants caused by Mycobacterium avium subspecies paratuberculosis (MAP). Feces, as the primary test sample, presents challenges in terms of effective DNA isolation, with potential for PCR inhibition and ultimately for reduced analytical and diagnostic sensitivity. However, limited evidence is available regarding the magnitude and diagnostic implications of PCR inhibition for the detection of MAP in feces...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28209905/diagnostic-value-of-18-f-fdg-pet-ct-versus-mri-in-the-setting-of-antibody-specific-autoimmune-encephalitis
#16
Lilja B Solnes, Krystyna M Jones, Steven P Rowe, Puskar Pattanayak, Abhinav Nalluri, Arun Venkatesan, John C Probasco, Mehrbod Som Javadi
Introduction: Diagnosis of autoimmune encephalitis presents some challenges in the clinical setting due to varied clinical presentations and delay in obtaining antibody panel results. We examined the role of neuroimaging in the setting of autoimmune encephalitides comparing the utility (18)F-FDG PET/CT versus conventional brain imaging with MRI. Methods: A retrospective study was performed assessing the positivity rate of MRI versus (18)F-FDG PET/CT during the initial work-up of 23 patients proven to have antibody positive autoimmune encephalitis...
February 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28209523/tb-iris-proteomic-analysis-of-in-vitro-pbmc-responses-to-mycobacterium-tuberculosis-and-response-modulation-by-dexamethasone
#17
Liam Bell, Janique M Peyper, Shaun Garnett, Rabecca Tadokera, Robert Wilkinson, Graeme Meintjes, Jonathan M Blackburn
Paradoxical tuberculosis-associated immune reconstitution inflammatory syndrome (TB-IRIS) occurs in 8-54% of South African patients undergoing treatment for tuberculosis/human immunodeficiency virus co-infection. Improved TB-IRIS molecular pathogenesis understanding would enhance risk stratification, diagnosis, prognostication, and treatment. We assessed how TB-IRIS status and dexamethasone influence leukocyte proteomic responses to Mycobacterium tuberculosis (Mtb). Patient blood was obtained three weeks post-anti-retroviral therapy initiation...
February 13, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28208686/identification-of-autophagy-related-genes-and-their-regulatory-mirnas-associated-with-celiac-disease-in-children
#18
Sergio Comincini, Federico Manai, Cristina Meazza, Sara Pagani, Carolina Martinelli, Noemi Pasqua, Gloria Pelizzo, Marco Biggiogera, Mauro Bozzola
Celiac disease (CD) is a severe genetic autoimmune disorder, affecting about one in 100 people, where the ingestion of gluten leads to damage in the small intestine. Diagnosing CD is quite complex and requires blood tests and intestinal biopsy examinations. Controversy exists regarding making the diagnosis without biopsy, due to the large spectrum of manifesting symptoms; furthermore, small-intestinal gastroscopy examinations have a relatively complex management in the pediatric population. To identify novel molecular markers useful to increase the sensitivity and specificity in the diagnosis of pediatric CD patients, the expression levels of two key autophagy executor genes (ATG7 and BECN1) and their regulatory validated miRNAs (miR-17 and miR-30a, respectively) were analyzed by relative quantitative real-time-PCR on a cohort of confirmed CD patients compared to age-related controls...
February 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28208072/identification-of-triosephosphate-isomerase-as-a-novel-allergen-in-octopus-fangsiao
#19
Yang Yang, Zhong-Wei Chen, Barry K Hurlburt, Gui-Ling Li, Yong-Xia Zhang, Dan-Xia Fei, Hai-Wang Shen, Min-Jie Cao, Guang-Ming Liu
Octopus is an important mollusk in human dietary for its nutritional value, however it also causes allergic reactions in humans. Major allergens from octopus have been identified, while the knowledge of novel allergens remains poor. In the present study, a novel allergen with molecular weight of 28kDa protein was purified from octopus (Octopus fangsiao) and identified as triosephosphate isomerase (TIM) by mass spectrometry. TIM aggregated beyond 45°C, and its IgE-binding activity was affected under extreme pH conditions due to the altered secondary structure...
February 13, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28206853/diagnostic-virology-and-patient-care-from-vaguely-interesting-to-vitally-important
#20
Sarah J Pitt, D Ian M Phillips
The existence of pathogenic viruses was inferred by experiments at the turn of the twentieth century. Key developments in detection of viruses, including electron microscopy and monolayer cell culture, were made in the middle of that century. However, in terms of patient care, the results from the virology laboratory often arrived the patient was 'better or dead'. The advent of molecular techniques, particularly polymerase chain reaction and more recently whole genome sequencing made timely and accurate diagnosis of viral infections feasible...
January 2017: British Journal of Biomedical Science
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