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Molecular diagnostic methods

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
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
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
Cong Chen, Tao Yan, Liguo Liu, Jianmin Wang, Qi Jin
Tuberculosis (TB) is a major comorbidity in HIV patients as well as a serious co-epidemic. Traditional detection methods are not effective or sensitive for the detection of Mycobacterium tuberculosis at the early stage. TB has become a major cause of lethal on HIV patients. We employed isobaric tags for relative and absolute quantitation (iTRAQ) technology to identify the different host responses in HIV-noTB and HIV-TB patients' sera. Given the diversity of HIV subtypes, which results in a variety of host responses in different human populations, we focused on the Chinese patients...
2018: Frontiers in Microbiology
Alona Zer, Jean Claude Cutz, Harman Sekhon, David M Hwang, Christina Sit, Manjula Maganti, Mike Sung, Matthew Binnie, Anthony Brade, Tae Bong Chung, Suzanne Kamel-Reid, Paul Narinder, Ming S Tsao, Tom Waddell, Gilda da Cunha Santos, Milan Patel, Ron F Carter, Natasha B Leighl
BACKGROUND: Molecular testing in advanced lung cancer is standard in guiding treatment selection. However, population-wide implementation of testing remains a challenge. We developed a knowledge translation intervention to improve understanding among diagnostic specialists about molecular testing and appropriate diagnostic sampling in lung cancer. METHODS: Specialty-specific education programs were developed from existing literature and input from Canadian leaders in lung pathology, respirology, interventional radiology, thoracic surgery, radiation and medical oncology...
March 10, 2018: Journal of Thoracic Oncology
Mehrdad Zeinalian, Morteza Hashemzadeh-Chaleshtori, Rasoul Salehi, Mohammad Hassan Emami
Microsatellite instability (MSI) is a molecular hallmark for some colorectal cancers (CRCs) in which short tandem repeats are prone to mutations along with DNA sequences. It is due to DNA-mismatch-repair system deficiency because of a germline/somatic mutation in mismatch-repair (MMR) genes. The germline mutations lead to Lynch syndrome (LS) while epigenetic gene silencing results in sporadic CRC tumors. We discuss in our paper the most important clinical aspects of MSI testing in CRCs. We reviewed the most reliable relevant studies and clinical trials according to their high-quality methods, particularly within two recent decades...
2018: Advanced Biomedical Research
Lina Xu, Giles Tetteh, Jana Lipkova, Yu Zhao, Hongwei Li, Patrick Christ, Marie Piraud, Andreas Buck, Kuangyu Shi, Bjoern H Menze
The identification of bone lesions is crucial in the diagnostic assessment of multiple myeloma (MM).68 Ga-Pentixafor PET/CT can capture the abnormal molecular expression of CXCR-4 in addition to anatomical changes. However, whole-body detection of dozens of lesions on hybrid imaging is tedious and error prone. It is even more difficult to identify lesions with a large heterogeneity. This study employed deep learning methods to automatically combine characteristics of PET and CT for whole-body MM bone lesion detection in a 3D manner...
2018: Contrast Media & Molecular Imaging
Takayuki Arai, Miki Fuse, Yusuke Goto, Kanya Kaga, Akira Kurozumi, Yasutaka Yamada, Sho Sugawara, Atsushi Okato, Tomohiko Ichikawa, Tomonori Yamanishi, Naohiko Seki
Interstitial cystitis (IC), also known as bladder pain syndrome, is a chronic inflammatory disease that affects the bladder. The symptoms of IC vary, including feeling an urgent need for immediate urination and of needing to urinate often, as well as bladder or pelvic pain. Despite its high incidence, no molecular diagnostic methods are available for IC, and the molecular pathogenesis is unknown. microRNAs (miRNA) can regulate expression of RNA transcripts in cells and aberrant expression of miRNAs is associated with several human diseases...
March 12, 2018: Journal of Human Genetics
Wei Fang, Ziying Wang, Quanxin Li, Xiaojie Wang, Yan Zhang, Yu Sun, Wei Tang, Chunhong Ma, Jinpeng Sun, Ningjun Li, Fan Yi
Background G protein-coupled receptors (GPCRs) participate in a variety of physiologic functions, and several GPCRs have critical physiologic and pathophysiologic roles in the regulation of renal function. We investigated the role of Gpr97, a newly identified member of the adhesion GPCR family, in AKI. Methods AKI was induced by ischemia-reperfusion or cisplatin treatment in Gpr97-deficient mice. We assessed renal injury in these models and in patients with acute tubular necrosis by histologic examination, and we conducted microarray analysis and in vitro assays to determine the molecular mechanisms of Gpr97 function...
March 12, 2018: Journal of the American Society of Nephrology: JASN
James M Dolezal, Arie P Dash, Edward V Prochownik
BACKGROUND: Ribosomes, the organelles responsible for the translation of mRNA, are comprised of four rRNAs and ~ 80 ribosomal proteins (RPs). Although canonically assumed to be maintained in equivalent proportions, some RPs have been shown to possess differential expression across tissue types. Dysregulation of RP expression occurs in a variety of human diseases, notably in many cancers, and altered expression of some RPs correlates with different tumor phenotypes and patient survival...
March 12, 2018: BMC Cancer
Kellie A Fay, Daniel L Villeneuve, Joe Swintek, Stephen Edwards, Mark Nelms, Brett R Blackwell, Gerald T Ankley
The U.S. Environmental Protection Agency's ToxCast program has screened thousands of chemicals for biological activity, primarily using high-throughput in vitro bioassays. Adverse outcome pathways (AOPs) offer a means to link pathway-specific biological activities with potential apical effects relevant to risk assessors. Thus, efforts are underway to develop AOPs relevant to pathway-specific perturbations detected in ToxCast assays. Previous work identified a 'cytotoxic burst' (CTB) phenomenon wherein large numbers of the ToxCast assays begin to respond at or near test chemical concentrations that elicit cytotoxicity, and a statistical approach to defining the bounds of the CTB was developed...
February 24, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany
The detection of recurrent somatic chromosomal rearrangements is standard of care for most leukemia types. Even though karyotype analysis-a low-resolution genome-wide chromosome analysis-is still the gold standard, it often needs to be complemented with other methods to increase resolution. To evaluate the feasibility and applicability of mate pair whole genome sequencing (MP-WGS) to detect structural chromosomal rearrangements in the diagnostic setting, we sequenced ten bone marrow samples from leukemia patients with recurrent rearrangements...
2018: PloS One
Marcello Mancini, Paul Summers, Francesco Faita, Maurizia R Brunetto, Francesco Callea, Andrea De Nicola, Nicole Di Lascio, Fabio Farinati, Amalia Gastaldelli, Bruno Gridelli, Peppino Mirabelli, Emanuele Neri, Piero A Salvadori, Eleni Rebelos, Claudio Tiribelli, Luca Valenti, Marco Salvatore, Ferruccio Bonino
The rapidly growing field of functional, molecular and structural bio-imaging is providing an extraordinary new opportunity to overcome the limits of invasive liver biopsy and introduce a "digital biopsy" for in vivo study of liver pathophysiology. To foster the application of bio-imaging in clinical and translational research, there is a need to standardize the methods of both acquisition and the storage of the bio-images of the liver. It can be hoped that the combination of digital, liquid and histologic liver biopsies will provide an innovative synergistic tri-dimensional approach to identifying new aetiologies, diagnostic and prognostic biomarkers and therapeutic targets for the optimization of personalized therapy of liver diseases and liver cancer...
February 27, 2018: World Journal of Hepatology
Maria Cryskely Agra Batinga, Julia Teresa Ribeiro de Lima, Fabio Gregori, Jaqueline Assumpção Diniz, Kerstin Muner, Trícia M F S Oliveira, Helena Lage Ferreira, Rodrigo Martins Soares, Lara Borges Keid
Canine brucellosis is caused by Brucella canis, a gram negative and facultative intracellular bacterium that is commonly associated with reproductive failures in dogs. The accurate diagnosis of the infection relies on the use of serological tests associated with blood culturing to guarantee sensitivity. The polymerase chain reaction (PCR) can replace the culturing procedure for the direct diagnosis of the infection because of its speed, high specificity and sensitivity values; however, it depends on some laboratory infrastructure to be conducted...
March 7, 2018: Molecular and Cellular Probes
Marta Kierzkowska, Piotr Pędzisz, Ireneusz Babiak, Jakub Janowicz, Mateusz Kulig, Anna Majewska, Anna Sawicka-Grzelak, Grażyna Młynarczyk
Most Clostridium species are part of saprophytic microflora in humans and animals; however, some are well-known human pathogens. We presented the challenges in identifying the Clostridium species isolated from a patient with an infected open dislocation of the proximal interphalangeal joint of the fourth digit of the right hand. The clinical materials were intraoperative samples collected from a patient diagnosed with an injury-related infection, with soft tissue loss and tendon sheath involvement. The available biochemical, molecular, and genetic techniques were used in identifying the isolated bacteria...
March 9, 2018: Folia Microbiologica
Ephraim E Parent, David M Schuster
Positron emission tomography (PET) is a functional imaging method that can exploit various aspects of tumor biology to enable greater detection of prostate cancer than can be provided by morphologic imaging alone. Anti-1-amino-3-[18 F]-flurocyclobutane-1-carboxylic acid (18 F-fluciclovine) is a non-naturally occurring amino acid PET radiotracer that is recently United States Food and Drug Administration approved for detection of suspected recurrent prostate cancer. The tumor imaging features of this radiotracer mirror the upregulation of transmembrane amino acid transport that occurs in prostate cancer due to increased amino acid metabolism for energy and protein synthesis...
March 9, 2018: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
Amer Al-Jawabreh, Kamal Dumaidi, Suheir Ereqat, Abdelmajeed Nasereddin, Kifaya Azmi, Hanan Al-Jawabreh, Nahed Al-Laham, Ziad Abdeen
In human cutaneous leishmaniasis (CL), the success of positive diagnoses and species identifications depends, primarily, on how biopsies are taken and then processed and examined. The efficiency of three methods of taking skin biopsies from suspect cases of CL was compared using the classical methods of microscopy of stained smears, in vitro culture of tissue aspirate, and internal transcribed spacer region 1 (ITS1)-polymerase chain reaction in diagnosing positive cases and identifying the species of Leishmania causing them...
March 6, 2018: Acta Tropica
M Bonin-Andresen, B Smiljanovic, B Stuhlmüller, T Sörensen, A Grützkau, T Häupl
Big data analysis raises the expectation that computerized algorithms may extract new knowledge from otherwise unmanageable vast data sets. What are the algorithms behind the big data discussion? In principle, high throughput technologies in molecular research already introduced big data and the development and application of analysis tools into the field of rheumatology some 15 years ago. This includes especially omics technologies, such as genomics, transcriptomics and cytomics. Some basic methods of data analysis are provided along with the technology, however, functional analysis and interpretation requires adaptation of existing or development of new software tools...
March 8, 2018: Zeitschrift Für Rheumatologie
Silvia Migliari, Antonino Sammartano, Maura Scarlattei, Giulio Serreli, Caterina Ghetti, Carla Cidda, Giorgio Baldari, Ornella Ortenzia, Livia Ruffini
Background : Prostate-specific membrane antigen (PSMA) has gained high attention as a useful biomarker in the imaging evaluation of prostate cancer with positron emission tomography (PET) during recent years. [68 Ga]-labeled Glu-urea-Lys(Ahx)-HBED-CC ([68 Ga]-PSMA-HBED-CC) is a novel PSMA inhibitor radiotracer which has demonstrated its suitability in detecting prostate cancer. Preparation conditions may influence the quality and in vivo behavior of this tracer, and no standard procedure for the quality control (QC) is available...
October 31, 2017: ACS Omega
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