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Molecular Diagnosis

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https://www.readbyqxmd.com/read/29792972/association-between-early-confirmatory-testing-and-the-adoption-of-active-surveillance-for-men-with-favorable-risk-prostate-cancer
#1
Deborah R Kaye, Ji Qi, Todd M Morgan, Susan Linsell, Brian R Lane, James E Montie, Michael L Cher, David C Miller
OBJECTIVE: To examine the relationship between the use and results of early confirmatory testing and persistence on active surveillance (AS). METHODS: We identified all men in the MUSIC registry diagnosed with favorable-risk prostate cancer from 01/2016-02/2017. We next examined trends in the use of early confirmatory test(s), defined as repeat biopsy, prostate MRI and/or molecular classifiers obtained within 6-months of the initial cancer diagnosis, in patients with favorable-risk prostate cancer...
May 21, 2018: Urology
https://www.readbyqxmd.com/read/29792895/pharmacogenomics-of-drug-induced-liver-injury-dili-molecular-biology-to-clinical-applications
#2
REVIEW
Kalaiyarasi Kaliyaperumal, Jane I Grove, Robin M Delahay, William J H Griffiths, Adam Duckworth, Guruprasad P Aithal
A number of drug-specific and host-related factors contribute to the development of drug-induced liver injury (DILI). Investigations focused on genetic susceptibility to DILI have advanced our understanding of the pathogenesis of this rare, yet potentially life-threatening adverse reaction. Candidate gene studies involving well-characterized patients with DILI and drug-exposed controls have identified single nucleotide polymorphisms (SNPs) affecting the metabolism and clearance of specific drugs and hence, influencing individual's susceptibility to DILI...
May 21, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29792762/genetic-profiling-in-acute-myeloid-leukemia-a-path-to-predicting-treatment-outcome
#3
Giuseppe Visani, Federica Loscocco, Alessandro Isidori, Pier Paolo Piccaluga
Despite substantial progresses in acute myeloid leukemia (AML) diagnosis and treatment, at least half of patient will eventually die for the disease. In the last decades, the use of genetic and genomic approaches allowed the identification of patients with higher risk of recurrence after and/or resistance to CHT. However, though many novel drugs have been proposed and tested, only little clinical improvements have been made concerning the treatment of the so called 'high risk' patients. Areas covered: In this article, the authors, based on their own experience and the most updated literature, review the basic knowledge of AML prognostication and treatment prediction developed throughout genetic and genomic profiling, and focus on the use of gene expression profiling as a promising predictive tool...
May 24, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29792512/use-of-t2mr-in-invasive-candidiasis-with-and-without-candidemia
#4
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/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#5
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
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
#6
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
#7
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/29791902/the-molecular-pathology-of-myelodysplastic-syndrome
#8
Torsten Haferlach
The diagnosis and classification of myelodysplastic syndromes (MDS) are based on cytomorphology and cytogenetics (WHO classification). Prognosis is best defined by the Revised International Prognostic Scoring System (IPSS-R). In recent years, an increasing number of molecular aberrations have been discovered. They are already included in the classification (e.g., SF3B1) and, more importantly, have emerged as valuable markers for better classification, particularly for defining risk groups. Mutations in genes such as SF3B1 and IDH1/2 have already had an impact on targeted treatment approaches in MDS...
May 23, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29791171/-diagnosis-of-mody-brief-overview-for-clinical-practice
#9
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/29790810/a-review-of-novel-technologies-and-techniques-associated-with-identification-of-bloodstream-infection-aetiologies-and-rapid-antimicrobial-genotypic-and-quantitative-phenotypic-determination
#10
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/29790787/colorectal-liver-metastases-a-pathologist-s-guide-to-creating-an-informative-report-and-improving-patient-care
#11
Mariana Moreno Prats, Eizaburo Sasatomi, Heather L Stevenson
CONTEXT: - In this era of minimally invasive procedures for diagnosis, prognosis, and treatment, pathologists are at the forefront of analyzing specimens and are expected to make more specific diagnoses, providing additional information from the material they receive. OBJECTIVE: - To familiarize pathologists with the essential components of surgical pathology reports for colorectal liver metastases (CRLM) resections. DATA SOURCES: - Colorectal cancer is the third most common cancer in the world and the liver is the most frequent site of metastases...
May 23, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29790681/multiple-primary-lung-cancer-a-literature-review
#12
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/29790651/epitheliocystis-in-fish-an-emerging-aquaculture-disease-with-a-global-impact
#13
REVIEW
Makeely Isabel Blandford, Alyce Taylor-Brown, Thomas A Schlacher, Barbara Nowak, Adam Polkinghorne
Epitheliocystis is a skin and gill disease in fish caused by pathogenic intracellular bacteria. The disease has been reported in at least 90 species of marine and freshwater fish in both the southern and northern hemispheres. It affects a number of commercially important aquaculture species, including salmon, kingfish and bream. In infected fish, cysts typically develop in the gill epithelia, promoting the fusion of gill lamellae. Infections can lead to respiratory distress and death, particularly in cultured and juvenile fish with cases rarely reported in wild fish...
May 23, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29790450/opisthotonos-and-unilateral-internal-hydrocephalus-associated-with-aberrant-migration-of-serratospiculum-sp-or-serratospiculoides-sp-in-a-prairie-falcon
#14
Arnaud J Van Wettere, Jaqueline P Kurz, Amanda Wilhelm, Jay Dee Ipsen
A juvenile, wild-caught prairie falcon ( Falco mexicanus) kept for falconry was presented to a veterinary hospital for intermittent opisthotonos and torticollis. Clinical examination, complete blood count, serum biochemistry panel, and fecal analysis were unremarkable. Clinical signs did not resolve, and the bird was euthanized 6 mo after the appearance of clinical signs. Autopsy revealed a mild, unilateral hydrocephalus and nematodes within the thoracic air sac. Histopathology demonstrated mild, unilateral hydrocephalus; scattered glial nodules; meningeal nematode sections; and meningeal and intraventricular embryonated eggs...
May 1, 2018: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29790357/-control-editing-of-the-genome-within-reach-or-already-in-our-hands
#15
Radim Brdička, Radoslav Omelka
Although different genome editing tools have been around for decades, the recent emergence of cheap, quick, and accessible CRISPR/Cas9 technology has led to a revolution in this field. The technique has the potential to transform medicine from curative into preventive using a gene therapy. An application of genome editing has proven to be effective for both genetic and non-genetic (e.g. infectious) diseases. However, cancer and rare diseases treatment is at the forefront of interest. Concurrently, the legal and ethical frameworks should be discussed, especially as the technology moves towards a modification of the germ cells or embryos...
2018: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/29789958/prosthetic-joint-infections-an-update
#16
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/29789650/use-of-dna-flow-cytometry-in-the-diagnosis-risk-stratification-and-management-of-gastric-epithelial-dysplasia
#17
Kwun Wah Wen, Peter S Rabinovitch, Danning Huang, Aras N Mattis, Gregory Y Lauwers, Won-Tak Choi
The natural history of gastric epithelial dysplasia and the consequential surveillance strategies are not well defined in the West. To date, the diagnosis relies on morphology, and no reliable adjunct methods, either immunohistochemical or molecular, have reproducibly been able to confirm the diagnosis and/or risk stratify gastric epithelial dysplasia. Yet, such a tool would be useful in confirming the diagnosis, and developing objective and rational surveillance guidelines. DNA flow cytometry was performed using formalin-fixed paraffin-embedded gastric tissue from 23 cases of high-grade dysplasia and 38 cases of low-grade dysplasia...
May 22, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29789537/detection-of-japanese-encephalitis-virus-rna-in-human-throat-samples-in-laos-a-pilot-study
#18
Tehmina Bharucha, Onanong Sengvilaipaseuth, Malee Seephonelee, Malavanh Vongsouvath, Manivanh Vongsouvath, Sayaphet Rattanavong, Géraldine Piorkowski, Marc Lecuit, Christopher Gorman, Jean-David Pommier, Paul N Newton, Xavier de Lamballerie, Audrey Dubot-Pérès
Japanese encephalitis virus (JEV) is the most commonly identified cause of acute encephalitis syndrome (AES) in Asia. The WHO recommended test is anti-JEV IgM-antibody-capture-enzyme-linked-immunosorbent-assay (JEV MAC-ELISA). However, data suggest this has low positive predictive value, with false positives related to other Flavivirus infections and vaccination. JEV RT-PCR in cerebrospinal fluid (CSF) and/or serum is highly specific, but is rarely positive; 0-25% of patients that fulfil the WHO definition of JE (clinical Acute Encephalitis Syndrome (AES) and JEV MAC-ELISA positive)...
May 22, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29789422/machine-learning-based-radiomics-for-molecular-subtyping-of-gliomas
#19
Chia-Feng Lu, Fei-Ting Hsu, Kevin Li-Chun Hsieh, Yu-Chieh Jill Kao, Sho-Jen Cheng, Justin Bo-Kai Hsu, Ping-Huei Tsai, Ray-Jade Chen, Chao-Ching Huang, Yun Yen, Cheng-Yu Chen
PURPOSE: The new classification announced by the World Health Organization in 2016 recognized five molecular subtypes of diffuse gliomas based on isocitrate dehydrogenase (IDH) and 1p/19q genotypes in addition to histological phenotypes. We aim to determine whether clinical magnetic resonance imaging (MRI) can stratify these molecular subtypes to benefit the diagnosis and monitoring of gliomas. EXPERIMENTAL DESIGN: The data from 456 subjects with gliomas were obtained from The Cancer Imaging Archive...
May 22, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29789419/detection-of-bladder-cancer-via-microfluidic-immunoassay-and-single-cell-dna-copy-number-alteration-analysis-of-captured-urinary-exfoliated-tumor-cells
#20
Anqi Chen, Guanghou Fu, Zhijie Xu, Yukun Sun, Xiaoyi Chen, Kok Suen Cheng, Kuang Hong Neoh, Zhewen Tang, Shifu Chen, Ming Liu, Tanxiao Huang, Yun Dai, Qibo Wang, Jing Jin, Baiye Jin, Ray P S Han
The increasing incidence of bladder cancer (BC) and its high rate of recurrence over a 5-year period necessitate the need for diagnosis and surveillance amelioration. Cystoscopy and urinary cytology are the current tools, and molecular techniques such as BTA stat, NMP22, survivin mRNA, and urovysion FISH have attracted attention, however, they suf-fer from insufficient sensitivity or specificity. We developed a novel microfluidic approach for harvesting intact urinary-exfoliated tumor cells (UETCs), either individually or in clus-ters, in a clean and segregated environment, which is crucial to minimize cross-contamination and misreads...
May 22, 2018: Cancer Research
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