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Molecular diagnostics

Paula Marrano, Mary Shago, Gino R Somers, Paul S Thorner
Osteogenic sarcoma (OS) is the most common malignant bone tumor in children and adolescents. Despite advances in molecular genetic characterization of pediatric and adult tumors, the diagnosis of OS still depends almost entirely on light microscopy. The lack of consistent genetic changes in OS has greatly hindered the development of any diagnostic molecular test. Recently, whole-genome sequencing has shown that ~50% of cases of OS have a translocation involving the TP53 gene with breakpoints confined to the first intron...
March 14, 2018: American Journal of Surgical Pathology
Jennifer Karmouch, Alexandros Protonotarios, Petros Syrris
PURPOSE OF REVIEW: To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM...
March 14, 2018: Current Opinion in Cardiology
Peng Chen, Xiaohu Liu, Garima Goyal, Nhung Thi Tran, James Chin Shing Ho, Yi Wang, Daniel Aili, Bo Liedberg
Localized surface plasmon resonance (LSPR) constitutes a versatile technique for biodetection exploiting the sensitivity of plasmonic nanostructures to small changes in refractive index. The optical shift in the LSPR band caused by molecular in-teractions in the vicinity of the nanostructures are typically < 5 nm and can readily be detected using a spectrophotometer. Widespread use of LSPR based sensors require cost effective devices and would benefit from sensing schemes that enables use of very simple spectrophotometers or even naked eye detection...
March 15, 2018: Analytical Chemistry
Kelly Aubertin, Vincent Quoc Trinh, Michael Jermyn, Paul Baksic, Andrée-Anne Grosset, Joannie Desroches, Karl St-Arnaud, Mirela Birlea, Maria Claudia Vladoiu, Mathieu Latour, Roula Albadine, Fred Saad, Frédéric Leblond, Dominique Trudel
OBJECTIVE: To test if Raman spectroscopy is an appropriate tool for the diagnosis and possibly the grading of prostate cancer. PATIENTS & METHODS: Between 20 and 50 Raman spectra were acquired on 32 fresh and non-processed post-prostatectomy specimens using a macroscopic hand-held Raman spectroscopy probe. Each measured area was characterized and categorized following histopathological criterions like tissue type (extra-prostatic or prostatic), tissue malignancy (benign or malignant), cancer grade (Grade Groups (GG) 1-5), and tissue glandular level...
March 15, 2018: BJU International
Dafina Ilijazi, Mohammad Abufaraj, Melanie R Hassler, Iris E Ertl, David D'Andrea, Shahrokh F Shariat
Bladder cancer (BCa) is the fifth most frequently diagnosed cancer worldwide and is, in fact, the most expensive cancer on a per-patient to treat basis. There is a critical need to implement new tests into clinical practice to improve the quality of clinical care, decrease unnecessary invasive therapies and ultimately save costs. Currently, no molecular or genetic biomarker has been widely integrated into daily clinical practice. However, major milestones have been achieved in our understanding of the molecular alterations in BCa that will provide the basis for integrating molecular and genetic biomarkers into clinical decision making to guide management...
March 15, 2018: Expert Review of Molecular Diagnostics
Jinzhao Song, Vikram Pandian, Michael G Mauk, Haim H Bau, Sara Cherry, Laurence C Tisi, Changchun Liu
Rapid and quantitative molecular diagnostics in the field, at home, and at remote clinics is essential for evidence-based disease management, control, and prevention. Conventional molecular diagnostics requires extensive sample preparation, complex instruments, and skilled personnel, restricting its use to centralized laboratories. To overcome these limitations, we designed a simple, inexpensive, hand-held, smartphone-based mobile detection platform, dubbed "smart-connected cup" (SCC), for rapid, connected and quantitative molecular diagnostics...
March 15, 2018: Analytical Chemistry
Karl Payne, Rachel Spruce, Andrew Beggs, Neil Sharma, Anthony Kong, Timothy Martin, Satyesh Parmar, Prav Praveen, Paul Nankivell, Hisham Mehanna
The use of circulating biochemical molecular markers in head and neck cancer holds the promise of improved diagnostics, treatment planning, and posttreatment surveillance. In this review, we provide an introduction for the head and neck surgeon of the basic science, current evidence, and future applications of circulating tumor DNA (ctDNA) as a biomarker and liquid biopsy to detect tumor genetic heterogeneity in patients with head and neck squamous cell carcinoma (HNSCC).
March 15, 2018: Head & Neck
Hong Truong, Leonard G Gomella, Mathew L Thakur, Edouard J Trabulsi
PURPOSE: Current approaches to prostate cancer screening and diagnosis are plagued with limitations in diagnostic accuracy. There is a compelling need for biomolecular imaging that will not only detect prostate cancer early but also distinguish prostate cancer from benign lesions accurately. In this topic paper, we review evidence that supports further investigation of VPAC1-targeted PET/CT imaging in the primary diagnosis of prostate cancer. METHODS: A non-systematic review of Medline/PubMed was performed...
March 14, 2018: World Journal of Urology
Yanlu Xiong, Tao Wang, Mingxing Wang, Jinbo Zhao, Xiaofei Li, Zhipei Zhang, Yongsheng Zhou, Jiabao Liu, Lintao Jia, Yong Han
Objectives: Non-small cell lung cancer (NSCLC) is associated with high morbidity and mortality, leading the understanding the pathogenesis paramount. Recent studies suggest that long non-coding RNAs (lncRNAs) play an important role in NSCLC. We conducted a systematic review to examine the relationship between lncRNAs and NSCLC. Materials and Methods: We calculated hazard ratios (HRs) and 95% confidence intervals (CIs) to estimate overall survival (OS), and odds ratios (ORs) and 95% CIs to assess clinicopathological parameters...
February 16, 2018: Oncotarget
Boaz Palterer, Gianfranco Vitiello, Alessia Carraresi, Maria Grazia Giudizi, Daniele Cammelli, Paola Parronchi
Idiopathic inflammatory myopathies represent a heterogeneous group of autoimmune diseases with systemic involvement. Even though numerous specific autoantibodies have been recognized, they have not been included, with the only exception of anti-Jo-1, into the 2017 Classification Criteria, thus perpetuating a clinical-serologic gap. The lack of homogeneous grouping based on the antibody profile deeply impacts the diagnostic approach, therapeutic choices and prognostic stratification of these patients. This review is intended to highlight the comprehensive scenario regarding myositis-related autoantibodies, from the molecular characterization and biological significance to target antigens, from the detection tools, with a special focus on immunofluorescence patterns on HEp-2 cells, to their relative prevalence and ethnic diversity, from the clinical presentation to prognosis...
2018: Clinical and Molecular Allergy: CMA
Takashi Baba, J Larry Campbell, J C Yves Le Blanc, Paul R S Baker, Kazutaka Ikeda
We report a method for comprehensive structural characterization of lipids in animal tissues using a combination of differential Ion mobility spectrometry (DMS) with electron-impact excitation of ions from organics (EIEIO) mass spectrometry. Singly charged lipid ions in protonated or sodiated forms were dissociated by an electron beam having a kinetic energy of 10 eV in a branched radio-frequency ion trap. We established a comprehensive set of diagnostics to characterize structures of glycerophospholipids, sphingolipids, and acylglycerols, including glycosylated, plasmalogen, and ester forms...
March 14, 2018: Journal of Lipid Research
Marina Rovani Drummond, Bruno Grosselli Lania, Pedro Paulo Vissoto de Paiva Diniz, Rovilson Gilioli, Daniele Masselli Rodrigues Demolin, Diana Gerardi Scorpio, Edward B Breitschwerdt, Paulo Eduardo Neves Ferreira Velho
Bartonella spp. constitute bacteria of worldwide distribution that cause asymptomatic to fatal infections in animals and humans. The most common zoonotic species is Bartonella henselae , for which cats are the major natural reservoir host. To better understand Bartonella sp. diagnostic limitations, we determined the frequency of bloodstream infection in 112 cats by comparing and combining the results of multiple conventional and nested PCRs from blood and liquid culture samples. Using liquid culture conventional PCR, Bartonella sp...
March 14, 2018: Journal of Clinical Microbiology
Leila M Lopes-Bezerra, Hector M Mora-Montes, Yu Zhang, Gustavo Nino-Vega, Anderson Messias Rodrigues, Zoilo Pires de Camargo, Sybren de Hoog
The description of cryptic species with different pathogenic potentials has changed the perspectives on sporotrichosis. Sporothrix schenckii causes a benign chronic subcutaneous mycosis, Sporothrix brasiliensis is highly virulent, and Sporothrix globosa mainly causes fixed cutaneous lesions. Furthermore, S. brasiliensis is the prevalent species related to cat-transmitted sporotrichosis. Sources of infection, transmission, and distribution patterns also differ between species, and variability differs between species because of different degrees of clonality...
April 1, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
A Skiada, C Lass-Floerl, N Klimko, A Ibrahim, E Roilides, G Petrikkos
The diagnosis and treatment of mucormycosis are challenging. The incidence of the disease seems to be increasing. Hematological malignancies are the most common underlying disease in countries with high income and uncontrolled diabetes in developing countries. Clinical approach to diagnosis lacks sensitivity and specificity. Radiologically, multiple (≥10) nodules and pleural effusion are reportedly associated with pulmonary mucormycosis. Another finding on computerized tomography (CT) scan, which seems to indicate the presence of mucormycosis, is the reverse halo sign...
April 1, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
Lara Danziger-Isakov, William J Steinbach, Grant Paulsen, Flor M Munoz, Leigh R Sweet, Michael Green, Marian G Michaels, Janet A Englund, Alastair Murray, Natasha Halasa, Daniel E Dulek, Rebecca Pellett Madan, Betsy C Herold, Brian T Fisher
Background: Respiratory virus infection (RVI) in pediatric solid organ transplant (SOT) recipients poses a significant risk; however, the epidemiology and effects of an RVI after pediatric SOT in the era of current molecular diagnostic assays are unclear. Methods: A retrospective observational cohort of pediatric SOT recipients (January 2010 to June 2013) was assembled from 9 US pediatric transplant centers. Charts were reviewed for RVI events associated with hospitalization within 1 year after the transplant...
March 10, 2018: Journal of the Pediatric Infectious Diseases Society
Yasmine Ghantous, Juliana L Schussel, Mariana Brait
PURPOSE OF REVIEW: The present review aims to describe the epigenetic alterations observed in oral cancer linked to the exposure to alcohol and/or tobacco. RECENT FINDINGS: Recent findings emphasize the importance of epigenetics in oral cancer progression and in how risk factors (as tobacco and alcohol) affect the basal epigenetic profiles. Deeper techniques and detailed approaches allowed the perception that individual CG changes and even subtle changes may represent important epigenetic alterations resulting in expression changes and other carcinogenic consequences...
March 13, 2018: Current Opinion in Oncology
Maryam Ramezany, Iraj Sharifi, Zahra Babaei, Pooya Ghasemi Nejad Almani, Amireh Heshmatkhah, Alireza Keyhani, Mohammad Reza Aflatoonian, Mohammad Ali Mohammadi, Fatemeh Sharifi, Mehdi Bamorovat
This study aimed to explore geographic distribution and molecular characterization of cutaneous leishmaniasis (CL) species by amplifying two popular markers in kinetoplast DNA and internal transcribed spacer 1 loci by nested-PCR, and characterized by sequencing and phylogenetic analyses. Findings demonstrated that two species co-existed in the province: L. tropica (88.5%) and L. major (11.5%). All gender and age groups were equally infected, although males, 21-30 years old, exhibited a significantly higher infection...
March 14, 2018: Pathogens and Global Health
Ping Hu, Fengchang Qiao, Yan Wang, Lulu Meng, Xiuqing Ji, Chunyu Luo, Tianhui Xu, Ran Zhou, Jingjing Zhang, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Dong Liang, Zhengfeng Xu
OBJECTIVES: This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) in prenatal diagnosis of congenital heart defects (CHDs) and for investigating the possible genetic etiology of prenatal CHD cases. METHODS: Forty-four fetuses with CHDs and normal molecular karyotypes underwent targeted NGS in this study. Fetal genomic DNA was directly extracted from amniotic fluid cells in each prenatal case. A customized targeted NGS panel containing 77 CHD-associated genes was designed to detect variants in the coding regions and the splicing sites of these genes...
March 13, 2018: Ultrasound in Obstetrics & Gynecology
Elinor Goshen, Leonid Beilin, Eli Stern, Tal Kenig, Ronen Goldkorn, Simona Ben-Haim
BACKGROUND: The performance of a prototype novel digital single-photon emission computed tomography (SPECT) camera with multiple pixelated CZT detectors and high sensitivity collimators (Digital SPECT; Valiance X12 prototype, Molecular Dynamics) was evaluated in various clinical settings. Images obtained in the prototype system were compared to images from an analog camera fitted with high-resolution collimators. Clinical feasibility, image quality, and diagnostic performance of the prototype were evaluated in 36 SPECT studies in 35 patients including bone (n = 21), brain (n = 5), lung perfusion (n = 3), and parathyroid (n = 3) and one study each of sentinel node and labeled white blood cells...
March 14, 2018: EJNMMI Physics
Barbara Albiger, Joana Revez, Katrin Claire Leitmeyer, Marc J Struelens
In an era of global health threats caused by epidemics of infectious diseases and rising multidrug resistance, microbiology laboratories provide essential scientific evidence for risk assessment, prevention, and control. Microbiology has been at the core of European infectious disease surveillance networks for decades. Since 2010, these networks have been coordinated by the European Centre for Disease Prevention and Control (ECDC). Activities delivered in these networks include harmonization of laboratory diagnostic, antimicrobial susceptibility and molecular typing methods, multicentre method validation, technical capacity mapping, training of laboratory staff, and continuing quality assessment of laboratory testing...
2018: Frontiers in Public Health
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