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Molecular Diagnosis

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https://www.readbyqxmd.com/read/29342273/hypermethylation-of-eif4e-promoter-is-associated-with-early-onset-of-gastric-cancer
#1
Yuqiu Ge, Qin Wu, Gaoxiang Ma, Wei Shao, Hanting Liu, Qiang Zhang, Junyi Xin, Yao Xue, Mulong Du, Qinghong Zhao, Meilin Wang, Haiyan Chu, Zhengdong Zhang
Although gastric cancer (GC) in young adults (≤ 45 years) accounts for fewer than 10% of newly diagnosed cases, the young patients are more likely to have advanced disease at presentation compared with elderly patients. Previous studies have identified that the DNA methylation of genomes are different during aging. Our study aimed to explore the association between DNA methylation and the onset of GC. We applied Illumina HumanMethylation450 BeadChip to examine methylation expression profiles and compared methylation expression patterns in five early onset GC patients and seven elderly patients...
January 12, 2018: Carcinogenesis
https://www.readbyqxmd.com/read/29342162/comparison-of-diagnostic-methods-to-detect-histoplasma-capsulatum-in-serum-and-blood-samples-from-aids-patients
#2
Katia Cristina Dantas, Roseli Santos de Freitas, Marcos Vinicius da Silva, Paulo Ricardo Criado, Olinda do Carmo Luiz, Adriana Pardini Vicentini
BACKGROUND: Although early and rapid detection of histoplasmosis is essential to prevent morbidity and mortality, few diagnostic tools are available in resource-limited areas, especially where it is endemic and HIV/AIDS is also epidemic. Thus, we compared conventional and molecular methods to detect Histoplasma capsulatum in sera and blood from HIV/AIDS patients. METHODOLOGY: We collected a total of 40 samples from control volunteers and patients suspected of histoplasmosis, some of whom were also infected with other pathogens...
2018: PloS One
https://www.readbyqxmd.com/read/29341979/wilson-s-disease-in-children-a-position-paper-by-the-european-society-for-paediatric-gastroenterology-hepatology-and-nutrition-committee
#3
Piotr Socha, Wojciech Janczyk, Anil Dhawan, Ulrich Baumann, Lorenzo D'Antiga, Stuart Tanner, Raffaele Iorio, Pietro Vajro, Roderick Houwen, Björn Fischler, Antal Dezsofi, Nedim Hadzic, Loreto Hierro, Jörg Jahnel, Valérie McLin, Valerio Nobili, Francoise Smets, Henkjan J Verkade, Dominique Debray
BACKGROUND: Clinical presentations of Wilson's disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, while neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24h-urinary copper excretion. Final diagnosis of WD can be established using a diagnostic scoring system based on symptoms, biochemical tests assessing copper metabolism and molecular analysis of mutations in the ATP7B gene...
October 26, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29341496/association-of-genetic-variants-in-the-interleukin-18-gene-promoter-with-risk-of-hepatocellular-carcinoma-and-metastasis-in-patients-with-hepatitis-c-virus-infection
#4
Noha M Bakr, Ashraf Awad, Emad A Moustafa
Hepatocellular carcinoma (HCC) is a primary malignancy of the liver, characterized by high vascularization and rapid tumor progression. The current case-control study aimed to analyze the influence of -607C/A and -137G/C polymorphisms in the interleukin-18 (IL-18) promoter on the risk of HCC occurrence and metastasis in Egyptian patients infected with hepatitis C virus (HCV). Both genetic variations were genotyped in 279 subjects including HCV patients with and without HCC and unrelated healthy subjects, using the allele-specific polymerase chain reaction (AS-PCR) method...
January 17, 2018: IUBMB Life
https://www.readbyqxmd.com/read/29341452/contribution-of-mlh1-constitutional-methylation-for-lynch-syndrome-diagnosis-in-patients-with-tumor-mlh1-downregulation
#5
Diana Pinto, Carla Pinto, Joana Guerra, Manuela Pinheiro, Rui Santos, Hege Marie Vedeld, Zeremariam Yohannes, Ana Peixoto, Catarina Santos, Pedro Pinto, Paula Lopes, Ragnhild Lothe, Guro Elisabeth Lind, Rui Henrique, Manuel R Teixeira
Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer (CRC) patients with abnormal expression of the MLH1 protein in their tumors. In a series of 38 patients who met clinical criteria for Lynch syndrome genetic testing, with loss of MLH1 expression in the tumor and with no germline mutations in the MLH1 gene (35/38) or with tumors presenting the BRAF p...
January 17, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29341343/small-heat-shock-protein-b3-hspb3-mutation-in-an-axonal-charcot-marie-tooth-disease-family
#6
Da Eun Nam, Soo Hyun Nam, Ah Jin Lee, Young Bin Hong, Byung-Ok Choi, Ki Wha Chung
HSPB3 gene encodes a small heat-shock protein 27-like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3 was reported as the putative underlying cause of distal hereditary motor neuropathy 2C (dHMN2C) in 2010. We identified a heterozygous mutation (c.352T>C, p.Tyr118His) in the HSPB3 from a Charcot-Marie-Tooth disease type 2 (CMT2) family by the method of targeted next generation sequencing. The mutation was located in the well conserved alpha-crystalline domain, and several in silico predictions indicated a pathogenic effect of the mutation...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29341227/pet-radiometals-for-antibody-labeling
#7
Eduardo Aluicio-Sarduy, Paul A Ellison, Todd E Barnhart, Weibo Cai, Robert Jerry Nickles, Jonathan W Engle
Recent advances in molecular characterization of tumors have made possible the emergence of new types of cancer therapies where the traditional cytotoxic drugs and nonspecific chemotherapy can be complemented with targeted molecular therapies. One of the main revolutionary treatments is the use of monoclonal antibodies (mAbs) that selectively target the disseminated tumor cells while sparing normal tissues. mAbs and related therapeutics can be efficiently radiolabeled with a wide range of radionuclides to facilitate preclinical and clinical studies...
January 17, 2018: Journal of Labelled Compounds & Radiopharmaceuticals
https://www.readbyqxmd.com/read/29341164/patient-derived-organoid-models-help-define-personalized-management-of-gastrointestinal-cancer
#8
REVIEW
M R Aberle, R A Burkhart, H Tiriac, S W M Olde Damink, C H C Dejong, D A Tuveson, R M van Dam
BACKGROUND: The prognosis of patients with different gastrointestinal cancers varies widely. Despite advances in treatment strategies, such as extensive resections and the addition of new drugs to chemotherapy regimens, conventional treatment strategies have failed to improve survival for many tumours. Although promising, the clinical application of molecularly guided personalized treatment has proven to be challenging. This narrative review focuses on the personalization of cancer therapy using patient-derived three-dimensional 'organoid' models...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29341144/role-of-micro-rnas-in-breast-cancer-surgery
#9
REVIEW
P McAnena, A Lowery, M J Kerin
BACKGROUND: The management of breast cancer has changed dramatically in the molecular era. Micro-RNAs can contribute to multiple facets of cancer surgery. METHODS: This narrative review, based on years of research on the role of micro-RNAs, focused on the potential of these small, robust RNAs to influence all aspects of breast cancer surgery. RESULTS: Micro-RNAs have a potential role as biomarkers in the diagnosis, prognosis and evaluation of response to therapy in breast cancer...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29341024/advanced-contrast-agents-for-multimodal-biomedical-imaging-based-on-nanotechnology
#10
Daniel Calle, Paloma Ballesteros, Sebastián Cerdán
Clinical imaging modalities have reached a prominent role in medical diagnosis and patient management in the last decades. Different image methodologies as Positron Emission Tomography, Single Photon Emission Tomography, X-Rays, or Magnetic Resonance Imaging are in continuous evolution to satisfy the increasing demands of current medical diagnosis. Progress in these methodologies has been favored by the parallel development of increasingly more powerful contrast agents. These are molecules that enhance the intrinsic contrast of the images in the tissues where they accumulate, revealing noninvasively the presence of characteristic molecular targets or differential physiopathological microenvironments...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29340983/18f-fdg-pet-ct-imaging-of-left-ventricular-assist-device-infection-a-retrospective-quantitative-intrapatient-analysis
#11
Philipp Kanapinn, Wolfgang Burchert, Hermann Körperich, Jan Körfer
BACKGROUND: Despite the use of 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT), diagnosis of a driveline infection in ventricular assist device (LVAD) recipients remains challenging. Our aim was to evaluate the potential of a baseline 18F-FDG PET/CT (prior to an infection) for the diagnosis of an LVAD-related infection. METHODS: We retrospectively selected all LVAD recipients who had undergone two consecutive whole-body 18F-FDG PET/CT examinations between January 2010 and December 2016...
January 16, 2018: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/29340881/circulating-free-dna-integrity-and-concentration-as-independent-prognostic-markers-in-metastatic-breast-cancer
#12
Jie Cheng, Tim Holland-Letz, Markus Wallwiener, Harald Surowy, Katarina Cuk, Sarah Schott, Andreas Trumpp, Klaus Pantel, Christof Sohn, Andreas Schneeweiss, Barbara Burwinkel
PURPOSE: Non-invasive blood-based molecular markers have been investigated for cancer diagnosis and prognosis. Circulating free or cell-free DNA (cfDNA) variables have been shown to be putative markers in breast cancer prognosis. METHODS: Here, we investigated the potential prognostic ability of cfDNA concentration and cfDNA integrity (cfDI) in a study cohort of 268 patients by quantitative PCR. We compared cfDNA concentration and cfDI at baseline and after one cycle of therapy in metastatic breast cancer (MBC) patients...
January 16, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29340742/-wilson-disease
#13
D Huster
Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29340020/eya2-promotes-lung-cancer-cell-proliferation-by-downregulating-the-expression-of-pten
#14
Zhaoming Li, Ran Qiu, Xia Qiu, Tian Tian
Lung cancer is the leading cause of cancer-related death worldwide. Despite advances have been made in diagnosis and therapeutic strategies, the prognosis of lung cancer is still very poor. Eyes absent transcriptional cofactor EYA2 has been shown to promote lung cancer cell growth, however, the underlying molecular mechanism is still not fully understood. In the present study, we found that EYA2 was up-regulated in lung cancer, and EYA2 led to increased cell proliferation by inhibiting Phosphatase and tensin homologue (PTEN) expression via modulation of miR-93...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339835/obtaining-high-quality-transcriptome-data-from-formalin-fixed-paraffin-embedded-diagnostic-prostate-tumor-specimens
#15
Liesel M FitzGerald, Chol-Hee Jung, Ee Ming Wong, JiHoon E Joo, Jodee A Gould, Vivien Vasic, Julie K Bassett, Neil O'Callaghan, Tim Nottle, John Pedersen, Graham G Giles, Melissa C Southey
Prognostic genomic biomarkers that can be measured at diagnosis to aid choice of treatment options are unavailable for most common cancers. This is due in part to the poor quality and quantity of available diagnostic specimens for discovery research and to limitations in genomic technologies. Recent technical advances now enable high-density molecular analyses using suboptimal biological specimens. Here we describe the optimization of a transcriptome-specific protocol for use with formalin-fixed, paraffin-embedded (FFPE) diagnostic prostate cancer (PrCa) specimens...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29339179/primary-diffuse-leptomeningeal-atypical-teratoid-rhabdoid-tumor-diagnosed-by-cerebrospinal-fluid-cytology-case-report-with-molecular-genetic-analysis
#16
Ran Tomomasa, Satoshi Nakata, Sumihito Nobusawa, Keishi Horiguchi, Nozomi Matsumura, Hayato Ikota, Junko Hirato, Yuhei Yoshimoto, Hideaki Yokoo
Atypical teratoid/rhabdoid tumors (AT/RT) are rare malignant neoplasms that mainly affect infants and young children, and are typically located in the cerebellar hemispheres. These tumors are histologically characterized by varying proportions of rhabdoid cells, and nuclear INI1 immunonegativity. Here, we report a case of a 15-year-old male with primary diffuse leptomeningeal AT/RT. The patient had symptoms similar to those of meningitis. Magnetic resonance imaging revealed leptomeningeal thickening. Cytological examination using cerebrospinal fluid was repeatedly performed and revealed rhabdoid cells with loss of INI1 reactivity, and shortly after, the diagnosis of AT/RT was confirmed by tissue biopsy...
January 12, 2018: Human Pathology
https://www.readbyqxmd.com/read/29338644/pulmonary-mucoepidermoid-carcinoma-diagnosis-and-treatment
#17
Neda Kalhor, Cesar A Moran
Primary mucoepidermoid carcinomas (MEC) of the lung are rare and represent a diagnostic challenge. MEC in the lung is under the umbrella of primary salivary gland type tumors of the lung. Areas Covered: In general, salivary gland type tumors are represented by malignant neoplasms that may range from low to intermediate to high-grade type of malignancy sharing similar histopathological features as those in salivary glands. The focus in this review will be on one tumor in particular - mucoepidermoid carcinoma...
January 17, 2018: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/29338615/assessment-of-canine-mast-cell-tumor-mortality-risk-based-on-clinical-histologic-immunohistochemical-and-molecular-features
#18
Rodrigo S Horta, Gleidice E Lavalle, Lidianne N Monteiro, Mayara C C Souza, Geovanni D Cassali, Roberto B Araújo
Mast cell tumor (MCT) is a frequent cutaneous neoplasm in dogs that is heterogeneous in clinical presentation and biological behavior, with a variable potential for recurrence and metastasis. Accurate prediction of clinical outcomes has been challenging. The study objective was to develop a system for classification of canine MCT according to the mortality risk based on individual assessment of clinical, histologic, immunohistochemical, and molecular features. The study included 149 dogs with a histologic diagnosis of cutaneous or subcutaneous MCT...
January 1, 2018: Veterinary Pathology
https://www.readbyqxmd.com/read/29338568/lactoferrin-plus-health-education-versus-total-dose-infusion-tdi-of-low-molecular-weight-lmw-iron-dextran-for-treating-iron-deficiency-anemia-ida-in-pregnancy-a-randomized-controlled-trial
#19
A M Darwish, Fouly Ha, W H Saied, E Farah
BACKGROUND: Iron deficiency anemia (IDA) is one of the most common medical disorder disturbing pregnancies particularly in low resources countries, and contributes significantly to morbidities and mortalities. Thus, early diagnosis and prompt management of IDA is highly recommended. AIM: To Test the efficacy and safety of oral lactoferrin plus health education provided by a nurse versus total dose infusion (TDI) of low-molecular weight (LMW) iron dextran for treating IDA in the second and third trimester of pregnancy...
January 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29338003/the-prevalence-of-autosomal-dominant-polycystic-kidney-disease-adpkd-a-meta-analysis-of-european-literature-and-prevalence-evaluation-in-the-italian-province-of-modena-suggest-that-adpkd-is-a-rare-and-underdiagnosed-condition
#20
Andrea Solazzo, Francesca Testa, Silvia Giovanella, Marco Busutti, Luciana Furci, Paola Carrera, Maurizio Ferrari, Giulia Ligabue, Giacomo Mori, Marco Leonelli, Gianni Cappelli, Riccardo Magistroni
BACKGROUND AND OBJECTIVES: ADPKD is erroneously perceived as a not rare condition, which is mainly due to the repeated citation of a mistaken interpretation of old epidemiological data, as reported in the Dalgaard's work (1957). Even if ADPKD is not a common condition, the correct prevalence of ADPKD in the general population is uncertain, with a wide range of estimations reported by different authors. In this work, we have performed a meta-analysis of available epidemiological data in the European literature...
2018: PloS One
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