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Molecular autopsy

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https://www.readbyqxmd.com/read/29129073/stage-dependence-cell-origin-independence-and-prognostic-capacity-of-serum-glycan-fucosylation-%C3%AE-1-4-branching-%C3%AE-1-6-branching-and-%C3%AE-2-6-sialylation-in-cancer
#1
Shadi Ferdosi, Douglas S Rehder, Paul Maranian, Erik P Castle, Thai H Ho, Harvey I Pass, Daniel W Cramer, Karen S Anderson, Lei Fu, David E C Cole, Tao Le, Xifeng Wu, Chad R Borges
Glycans represent a promising but only marginally accessed source of cancer markers. We previously reported the development of a molecularly bottom-up approach to plasma/serum (P/S) glycomics based on glycan linkage analysis that captures features such as α2-6 sialylation, β1-6 branching, and core fucosylation as single analytical signals. Based on the behavior of P/S glycans established to date, we hypothesized that the alteration of P/S glycans observed in cancer would be independent of the tissue in which the tumor originated yet exhibit stage dependence that varied little between cancers classified on the basis of tumor origin...
November 12, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#2
REVIEW
Susanne A Schneider, Roy N Alcalay
Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3)...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29115304/tumour-heterogeneity-and-resistance-to-cancer-therapies
#3
REVIEW
Ibiayi Dagogo-Jack, Alice T Shaw
Cancer is a dynamic disease. During the course of disease, cancers generally become more heterogeneous. As a result of this heterogeneity, the bulk tumour might include a diverse collection of cells harbouring distinct molecular signatures with differential levels of sensitivity to treatment. This heterogeneity might result in a non-uniform distribution of genetically distinct tumour-cell subpopulations across and within disease sites (spatial heterogeneity) or temporal variations in the molecular makeup of cancer cells (temporal heterogeneity)...
November 8, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/29078160/a-review-of-the-optimisation-of-the-use-of-formalin-fixed-paraffin-embedded-tissue-for-molecular-analysis-in-a-forensic-post-mortem-setting
#4
REVIEW
Kate Megan Reid, Sairita Maistry, Raj Ramesar, Laura Jane Heathfield
Molecular analyses in a post-mortem setting are becoming increasingly common, particularly in cases of sudden unexplained death, with the aim of identifying genetic mutations which may be responsible for causing death. In retrospective investigations, the access to suitable autopsy biological samples may be limited, and often formalin fixed paraffin embedded (FFPE) tissue is the only sample available. The preservation of tissue in formalin is known to damage DNA through crosslinking activity. This results in the extraction of severely fragmented DNA of variable yields, which subsequently reduces the ability to perform downstream molecular analyses...
October 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29070574/cell-adhesion-molecule-1-cadm1-shedding-induces-apoptosis-of-renal-epithelial-cells-and-exacerbates-human-nephropathies
#5
Takashi Kato, Man Hagiyama, Yasutoshi Takashima, Azusa Yoneshige, Akihiko Ito
Chronic kidney disease (CKD) is an important problem throughout the world, associated with the increase of blood urea nitrogen (BUN) and serum creatinine (sCre), and renal tubular injuries. It is crucial to elucidate the molecular mechanisms of renal injuries in order to identify the new therapeutics and early diagnostic methods. We focused on cell adhesion molecule-1 (CADM1) protein. CADM1, its isoform SP4, is expressed in the epithelial cells of various tissues including renal distal tubules, localized on the lateral cell membrane, mediates cell-cell adhesion via trans-homophilic binding, and interacts with various proteins...
October 25, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29053860/clinicopathological-correlations-in-behavioural-variant-frontotemporal-dementia
#6
David C Perry, Jesse A Brown, Katherine L Possin, Samir Datta, Andrew Trujillo, Anneliese Radke, Anna Karydas, John Kornak, Ana C Sias, Gil D Rabinovici, Maria Luisa Gorno-Tempini, Adam L Boxer, Mary De May, Katherine P Rankin, Virginia E Sturm, Suzee E Lee, Brandy R Matthews, Aimee W Kao, Keith A Vossel, Maria Carmela Tartaglia, Zachary A Miller, Sang Won Seo, Manu Sidhu, Stephanie E Gaus, Alissa L Nana, Jose Norberto S Vargas, Ji-Hye L Hwang, Rik Ossenkoppele, Alainna B Brown, Eric J Huang, Giovanni Coppola, Howard J Rosen, Daniel Geschwind, John Q Trojanowski, Lea T Grinberg, Joel H Kramer, Bruce L Miller, William W Seeley
Accurately predicting the underlying neuropathological diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting challenge for clinicians but will be critical for the success of disease-modifying therapies. We sought to improve pathological prediction by exploring clinicopathological correlations in a large bvFTD cohort. Among 438 patients in whom bvFTD was either the top or an alternative possible clinical diagnosis, 117 had available autopsy data, including 98 with a primary pathological diagnosis of frontotemporal lobar degeneration (FTLD), 15 with Alzheimer's disease, and four with amyotrophic lateral sclerosis who lacked neurodegenerative disease-related pathology outside of the motor system...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29016939/molecular-autopsy-of-sudden-unexplained-deaths-reveals-genetic-predispositions-for-cardiac-diseases-among-young-forensic-cases
#7
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting
Aims: Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD cases from a large German forensic department...
November 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28986455/genomic-triangulation-and-coverage-analysis-in-whole-exome-sequencing-based-molecular-autopsies
#8
Garrett W Shanks, David J Tester, Sneha Nishtala, Jared M Evans, Michael J Ackerman
BACKGROUND: WEMA (Whole-Exome Molecular Autopsy) and surveillance of cardiac channelopathy and cardiomyopathy genes represents the latest molecular autopsy for sudden death in the young (SDY). To date, the majority of WEMA has been performed on the SDY case only. METHODS AND RESULTS: We performed whole-exome sequencing and nucleotide-level coverage analysis on 28 SDY cases (18.4±7.8 years) and their parents to determine the inheritance patterns of ultrarare, nonsynonymous variants in 99 sudden death-susceptibility genes...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28977413/identification-of-the-synthetic-cannabinoid-1-4-cyanobutyl-n-2-phenylpropan-2-yl-1h-indazole-3-carboxamide-cumyl-4cn-binaca-in-plant-material-and-quantification-in-post-mortem-blood-samples
#9
Oya Yeter
In May 2016, a new type of synthetic indazole-3-carboxamide cannabinoid (CUMYL-4CN-BINACA) was detected in seized plant material submitted to the Istanbul Council of Forensic Medicine by the National Police Office. The major ingredient in this material was purified using preparative liquid chromatography, and its structure was identified using liquid chromatography-high-resolution mass spectrometry (LC-HR/MS), gas chromatography-electron ionization/mass spectrometry (GC-EI/MS), nuclear magnetic resonance (NMR) spectroscopy and Fourier transform-infrared spectroscopy (FT-IR)...
August 31, 2017: Journal of Analytical Toxicology
https://www.readbyqxmd.com/read/28971090/molecular-imaging-and-fusion-targeted-biopsy-of-the-prostate
#10
Baowei Fei, Peter T Nieh, Viraj A Master, Yun Zhang, Adeboye O Osunkoya, David M Schuster
PURPOSE: This paper provides a review on molecular imaging with positron emission tomography (PET) and magnetic resonance imaging (MRI) for prostate cancer detection and its applications in fusion targeted biopsy of the prostate. METHODS: Literature search was performed through the PubMed database using the keywords "prostate cancer", "MRI/ultrasound fusion", "molecular imaging", and "targeted biopsy". Estimates in autopsy studies indicate that 50% of men older than 50 years of age have prostate cancer...
February 2017: Clinical and Translational Imaging: Reviews in Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28970295/infectious-and-non-infectious-complications-in-primary-immunodeficiency-disorders-an-autopsy-study-from-north-india
#11
Kirti Gupta, Amit Rawat, Parimal Agrawal, Ankur Jindal, Ritambhra Nada, Biman Saikia, Koon Wing Chan, Yu Lung Lau, Ranjana Walker Minz, Surjit Singh
BACKGROUND: Primary immunodeficiency disorders (PID) include a wide spectrum of inherited disorders characterised by functional abnormalities of one or more components of the immune system. Recent updates from the genomic data have contributed significantly to its better understanding with identification of new entities. Diagnosis is always challenging due to their variable clinical presentation. With the evolution of molecular diagnosis, many of these children are being diagnosed early and offered appropriate therapy...
September 28, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28968605/expression-profiling-of-micrornas-in-the-inner-ear-of-elderly-people-by-real-time-pcr-quantification
#12
Kuwon Sekine, Tomohiro Matsumura, Toshihiro Takizawa, Yurika Kimura, Shiho Saito, Kyoko Shiiba, Susumu Shindo, Kimihiro Okubo, Tetsuo Ikezono
The molecular mechanisms underlying age-related hearing loss are unknown, and currently, there is no treatment for this condition. Recent studies have shown that microRNAs (miRNAs) and age-related diseases are intimately linked, suggesting that some miRNAs may present attractive therapeutic targets. In this study, we obtained 8 human temporal bones from 8 elderly subjects at brain autopsy in order to investigate the expression profile of miRNAs in the inner ear with miRNA arrays. A mean of 478 different miRNAs were expressed in the samples, of which 348 were commonly expressed in all 8 samples...
2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28954562/arthrogryposis-multiplex-congenita-in-utero-radiologic-and-pathologic-findings
#13
Priya Skaria, Amy Dahl, Atif Ahmed
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects approximately 1 in 3000 individuals, mostly reported in individuals of Asian, African and European descent with equal incidence in males and females. Arthrogryposis is associated with over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. The primary underlying mechanism is decreased fetal movement during development...
September 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28947983/deceptive-morphologic-and-epigenetic-heterogeneity-in-diffuse-intrinsic-pontine-glioma
#14
Marianna Bugiani, Sophie E M Veldhuijzen van Zanten, Viola Caretti, Pepijn Schellen, Eleonora Aronica, David P Noske, William P Vandertop, Gertjan J L Kaspers, Dannis G van Vuurden, Pieter Wesseling, Esther Hulleman
Historically, the diagnosis of diffuse intrinsic pontine glioma (DIPG) was based on typical imaging findings and clinical characteristics instead of pathology. However, the discovery of mutations in histone H3 variants, and the availability of tumor material for molecular analysis, has led to a paradigm shift in DIPG research and clinical practice. Using data from whole-brain autopsies in a series of nine DIPG patients with known histone mutational status, we here aim to review histopathological characteristics with special focus on intratumoral heterogeneity (ITH) and histone 3 K27 trimethylation (H3 K27me3)...
September 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28892480/estimating-global-regional-and-national-rotavirus-deaths-in-children-aged-5-years-current-approaches-new-analyses-and-proposed-improvements
#15
Andrew Clark, Robert Black, Jacqueline Tate, Anna Roose, Karen Kotloff, Diana Lam, William Blackwelder, Umesh Parashar, Claudio Lanata, Gagandeep Kang, Christopher Troeger, James Platts-Mills, Ali Mokdad, Colin Sanderson, Laura Lamberti, Myron Levine, Mathuram Santosham, Duncan Steele
BACKGROUND: Rotavirus is a leading cause of diarrhoeal mortality in children but there is considerable disagreement about how many deaths occur each year. METHODS AND FINDINGS: We compared CHERG, GBD and WHO/CDC estimates of age under 5 years (U5) rotavirus deaths at the global, regional and national level using a standard year (2013) and standard list of 186 countries. The global estimates were 157,398 (CHERG), 122,322 (GBD) and 215,757 (WHO/CDC). The three groups used different methods: (i) to select data points for rotavirus-positive proportions; (ii) to extrapolate data points to individual countries; (iii) to account for rotavirus vaccine coverage; (iv) to convert rotavirus-positive proportions to rotavirus attributable fractions; and (v) to calculate uncertainty ranges...
2017: PloS One
https://www.readbyqxmd.com/read/28889247/guidelines-for-autopsy-investigation-of-sudden-cardiac-death-2017-update-from-the-association-for-european-cardiovascular-pathology
#16
Cristina Basso, Beatriz Aguilera, Jytte Banner, Stephan Cohle, Giulia d'Amati, Rosa Henriques de Gouveia, Cira di Gioia, Aurelie Fabre, Patrick J Gallagher, Ornella Leone, Joaquin Lucena, Lubov Mitrofanova, Pilar Molina, Sarah Parsons, Stefania Rizzo, Mary N Sheppard, Maria Paz Suárez Mier, S Kim Suvarna, Gaetano Thiene, Allard van der Wal, Aryan Vink, Katarzyna Michaud
Although sudden cardiac death (SCD) is one of the most important modes of death in Western countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed and the accurate diagnosis of the causes of SCD is now of particular importance. Pathologists are responsible for determining the precise cause and mechanism of sudden death but there is still considerable variation in the way in which they approach this increasingly complex task...
September 9, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28884794/pathology-evaluation-of-developmental-phenotypes-in-neonatal-and-juvenile-mice
#17
Brad Bolon, Susan Newbigging, Kelli L Boyd
Necropsy (or autopsy) is the post mortem dissection of an animal to examine and collect organs and tissues in order to understand the effects and causes of disease. The systematic harvesting of samples at necropsy is an essential step in defining the reason for an unexpected death and in characterizing the features (i.e., phenotype) of a newly discovered condition. Phenotypic evaluation of young (neonatal and juvenile) mice emphasizes morphologic (macroscopic and microscopic) techniques and biochemical (clinical chemistry, hematologic, and molecular) analyses...
September 8, 2017: Current Protocols in Mouse Biology
https://www.readbyqxmd.com/read/28881750/new-in-vivo-avatars-of-diffuse-intrinsic-pontine-gliomas-dipg-from-stereotactic-biopsies-performed-at-diagnosis
#18
Alexandre Plessier, Ludivine Le Dret, Pascale Varlet, Kévin Beccaria, Joëlle Lacombe, Sébastien Mériaux, Françoise Geffroy, Laurence Fiette, Patricia Flamant, Fabrice Chrétien, Thomas Blauwblomme, Stéphanie Puget, Jacques Grill, Marie-Anne Debily, David Castel
Diffuse Instrinsic Pontine Glioma is the most aggressive form of High Grade Gliomas in children. The lack of biological material and the absence of relevant models have hampered the development of new therapeutics. Their extensive infiltration of the brainstem renders any surgical resection impossible and until recently biopsies were considered not informative enough and therefore not recommended. Thus, most models were derived from autopsy material. We aimed to develop relevant in vivo DIPG models that mimic this specific disease and its molecular diversity from tumor material obtained at diagnosis...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28880023/sudden-infant-death-syndrome-and-inherited-cardiac-conditions
#19
REVIEW
Alban-Elouen Baruteau, David J Tester, Jamie D Kapplinger, Michael J Ackerman, Elijah R Behr
Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant mortality in developed countries, characterized by the death of infants for no obvious reason and without prior warning. The complex interaction of multiple factors in the pathogenesis of SIDS is illustrated by the 'triple risk hypothesis', which proposed that SIDS results from a convergence of three overlapping risk factors: a critical developmental period, an exogenous stressor, and underlying genetic and/or nongenetic vulnerability in the infant...
September 7, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28861035/molecular-disorganization-of-axons-adjacent-to-human-cortical-microinfarcts
#20
Hamza Coban, Spencer Tung, Bryan Yoo, Harry V Vinters, Jason D Hinman
Cortical microinfarcts (CMIs) are microscopically identified wedge-shaped ischemic lesions that occur at or near the cortical surface and result from occlusion of penetrating arterioles. These microscopic lesions can be observed with high-resolution magnetic resonance imaging in aging brains and in patients with cerebrovascular disease. Recent studies have suggested that strategically located microinfarcts strongly correlate with cognitive deficits, which can contribute to Alzheimer's disease as well as other forms of dementia...
2017: Frontiers in Neurology
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