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Molecular autopsy

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https://www.readbyqxmd.com/read/29774203/small-rho-gtpases-and-the-effector-vipa-mediate-the-invasion-of-epithelial-cells-by-filamentous-legionella-pneumophila
#1
Akriti Prashar, María Eugenia Ortiz, Stefanie Lucarelli, Elizabeth Barker, Zohreh Tabatabeiyazdi, Feras Shamoun, Deepa Raju, Costin Antonescu, Cyril Guyard, Mauricio R Terebiznik
Legionella pneumophila (Lp) exhibits different morphologies with varying degrees of virulence. Despite their detection in environmental sources of outbreaks and in respiratory tract secretions and lung autopsies from patients, the filamentous morphotype of Lp remains poorly studied. We previously demonstrated that filamentous Lp invades lung epithelial cells (LECs) and replicates intracellularly in a Legionella containing vacuole. Filamentous Lp activates β1integrin and E-cadherin receptors at the surface of LECs leading to the formation of actin-rich cell membrane structures we termed hooks and membrane wraps...
2018: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29747822/ganglioside-mediated-assembly-of-amyloid-%C3%AE-protein-roles-in-alzheimer-s-disease
#2
Katsumi Matsuzaki, Koichi Kato, Katsuhiko Yanagisawa
Assembly and deposition of amyloid β-protein (Aβ) is an early and invariable pathological event of Alzheimer's disease (AD), a chronic neurodegenerative disease affecting the neurons in the brain of aging population. Thus, clarification of the molecular mechanism underlying Aβ assembly is crucial not only for understanding the pathogenesis of AD, but also for developing disease-modifying remedies. In 1995, ganglioside-bound Aβ (GAβ), with unique molecular characteristics, including its altered immunoreactivity and its conspicuous ability to accelerate Aβ assembly, was discovered in an autopsied brain showing early pathological changes of AD...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29746225/clinical-radiologic-pathologic-and-molecular-characteristics-of-long-term-survivors-of-diffuse-intrinsic-pontine-glioma-dipg-a-collaborative-report-from-the-international-and-european-society-for-pediatric-oncology-dipg-registries
#3
Lindsey M Hoffman, Sophie E M Veldhuijzen van Zanten, Niclas Colditz, Joshua Baugh, Brooklyn Chaney, Marion Hoffmann, Adam Lane, Christine Fuller, Lili Miles, Cynthia Hawkins, Ute Bartels, Eric Bouffet, Stewart Goldman, Sarah Leary, Nicholas K Foreman, Roger Packer, Katherine E Warren, Alberto Broniscer, Mark W Kieran, Jane Minturn, Melanie Comito, Emmett Broxson, Chie-Schin Shih, Soumen Khatua, Murali Chintagumpala, Anne Sophie Carret, Nancy Yanez Escorza, Timothy Hassall, David S Ziegler, Nicholas Gottardo, Hetal Dholaria, Renee Doughman, Martin Benesch, Rachid Drissi, Javad Nazarian, Nada Jabado, Nathalie Boddaert, Pascale Varlet, Géraldine Giraud, David Castel, Stephanie Puget, Chris Jones, Esther Hulleman, Piergiorgio Modena, Marzia Giagnacovo, Manila Antonelli, Torsten Pietsch, Gerrit H Gielen, David T W Jones, Dominik Sturm, Stefan M Pfister, Nicolas U Gerber, Michael A Grotzer, Elke Pfaff, André O von Bueren, Darren Hargrave, Guirish A Solanki, Filip Jadrijevic Cvrlje, Gertjan J L Kaspers, William P Vandertop, Jacques Grill, Simon Bailey, Veronica Biassoni, Maura Massimino, Raphaël Calmon, Esther Sanchez, Brigitte Bison, Monika Warmuth-Metz, James Leach, Blaise Jones, Dannis G van Vuurden, Christof M Kramm, Maryam Fouladi
Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with a median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, and histomolecular characteristics between short-term survivors (STSs) and long-term survivors (LTSs). Materials and Methods Data abstracted from registry databases included patients from North America, Australia, Germany, Austria, Switzerland, the Netherlands, Italy, France, the United Kingdom, and Croatia...
May 10, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29725820/cadasil-brain-vessels-show-a-htra1-loss-of-function-profile
#4
Andreas Zellner, Eva Scharrer, Thomas Arzberger, Chio Oka, Valérie Domenga-Denier, Anne Joutel, Stefan F Lichtenthaler, Stephan A Müller, Martin Dichgans, Christof Haffner
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and a phenotypically similar recessive condition (CARASIL) have emerged as important genetic model diseases for studying the molecular pathomechanisms of cerebral small vessel disease (SVD). CADASIL, the most frequent and intensely explored monogenic SVD, is characterized by a severe pathology in the cerebral vasculature including the mutation-induced aggregation of the Notch3 extracellular domain (Notch3ECD ) and the formation of protein deposits of insufficiently determined composition in vessel walls...
May 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29720959/role-of-neuroimaging-as-a-biomarker-for-neurodegenerative-diseases
#5
REVIEW
Soichiro Shimizu, Daisuke Hirose, Hirokuni Hatanaka, Naoto Takenoshita, Yoshitsugu Kaneko, Yusuke Ogawa, Hirofumi Sakurai, Haruo Hanyu
It has recently been recognized that neurodegenerative diseases are caused by common cellular and molecular mechanisms including protein aggregation and inclusion body formation. Each type of neurodegenerative disease is characterized by the specific protein that aggregates. In these days, the pathway involved in protein aggregation has been elucidated. These are leading to approaches toward disease-modifying therapies. Neurodegenerative diseases are fundamentally diagnosed pathologically. Therefore, autopsy is essential for a definitive diagnosis of a neurodegenerative disease...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29713389/establishing-post-mortem-criteria-for-the-metabolic-syndrome-an-autopsy-based-cross-sectional-study
#6
Martin Roest Christensen, Anne Bugge, Mariam Elmegaard Malik, Jørgen Lange Thomsen, Niels Lynnerup, Jørgen Rungby, Jytte Banner
Background: Individuals who suffer from mental illness are more prone to obesity and related co-morbidities, including the metabolic syndrome. Autopsies provide an outstanding platform for the macroscopic, microscopic and molecular-biological investigation of diseases. Autopsy-based findings may assist in the investigation of the metabolic syndrome. To utilise the vast information that an autopsy encompasses to elucidate the pathophysiology behind the syndrome further, we aimed to both develop and evaluate a method for the post mortem definition of the metabolic syndrome...
2018: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29710713/rapidly-progressive-alzheimer-s-disease-contributions-to-clinical-pathological-definition-and-diagnosis
#7
Samir Abu-Rumeileh, Sabina Capellari, Piero Parchi
Rapidly progressive Alzheimer's disease (rpAD) has recently been recognized as a clinical disease subtype characterized by rapidly progressive cognitive decline and/or short disease duration, and the possible occurrence of early focal neurological signs. Consistently, rpAD represents a relatively frequent alternative diagnosis among cases referred as possible or probable Creutzfeldt-Jakob disease (CJD) to surveillance centers for prion disease worldwide. Indeed, the early clinical differential diagnosis between the two disorders can be challenging given the partial overlap in clinical features and cerebrospinal fluid (CSF) levels of the protein surrogate markers 14-3-3 and total-tau...
April 25, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29672598/long-qt-molecular-autopsy-in-sudden-unexplained-death-in-the-young-1-40-years-old-lessons-learnt-from-an-eight-year-experience-in-new-zealand
#8
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner
BACKGROUND: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand. METHODS: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families. RESULTS: During the study period, 365 SUDY cases were referred for molecular autopsy. 128 cases (35%) underwent LQTS genetic testing. 31 likely pathogenic variants were identified in 27 cases (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1 (2/31, 7%), KCNJ2 (1/31, 3%)...
2018: PloS One
https://www.readbyqxmd.com/read/29670956/development-of-dna-aptamers-targeting-low-molecular-weight-amyloid-%C3%AE-peptide-aggregates-in-vitro
#9
Madhuri Chakravarthy, Hadi AlShamaileh, He Huang, Rudi K Tannenberg, Suxiang Chen, Simon Worrall, Peter R Dodd, Rakesh N Veedu
We have developed a novel functional nucleic acid aptamer to amyloid-β peptide 1-40 (Aβ1-40) and investigated its potential to detect Aβ peptide fragments in neuropathologically confirmed Alzheimer brain hippocampus tissues samples. Our results demonstrate that the aptamer candidate RNV95 could detect tetrameric/pentameric low-molecular-weight Aβ aggregates in autopsy hippocampal tissue from two neuropathologically confirmed Alzheimer disease cases. Although these are preliminary observations, detailed investigations are under way...
April 19, 2018: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/29670795/pulmonary-vasculitis-and-a-horseshoe-kidney-in-noonan-syndrome
#10
Surasak Puvabanditsin, Rosanna Abellar, Adaora Madubuko, Rajeev Mehta, Lauren Walzer
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11 . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29629646/fibroblastic-osteosarcoma-with-epithelioid-and-squamous-differentiation-in-a-dog
#11
Tiffany L Jenkins, Dalen Agnew, Daniel R Rissi
A fibroblastic osteosarcoma with epithelioid and squamous differentiation in the distal femur of a 9-y-old spayed female Greyhound dog is described. Grossly, the tumor consisted of a pale-white, firm-to-hard mass that replaced the medullary and cortical areas of the distal end of the right femur. Histologically, the mass was composed predominantly of spindle cells admixed with areas of mineralized and non-mineralized osteoid matrix that were surrounded by stellate osteoblasts and scattered multinucleate giant cells, consistent with the diagnosis of a fibroblastic osteosarcoma...
April 1, 2018: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29622161/elevated-cardiac-troponin-t-in-patients-with-skeletal-myopathies
#12
Johannes Schmid, Laura Liesinger, Ruth Birner-Gruenberger, Tatjana Stojakovic, Hubert Scharnagl, Benjamin Dieplinger, Martin Asslaber, Roman Radl, Meinrad Beer, Malgorzata Polacin, Johannes Mair, Dieter Szolar, Andrea Berghold, Stefan Quasthoff, Josepha S Binder, Peter P Rainer
BACKGROUND: Cardiac troponins are often elevated in patients with skeletal muscle disease who have no evidence of cardiac disease. OBJECTIVES: The goal of this study was to characterize cardiac troponin concentrations in patients with myopathies and derive insights regarding the source of elevated troponin T measurements. METHODS: Cardiac troponin T (cTnT) and cardiac troponin I (cTnI) concentrations were determined by using high sensitivity assays in 74 patients with hereditary and acquired skeletal myopathies...
April 10, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29619916/descriptions-of-two-new-cases-of-rocky-mountain-spotted-fever-in-panama-and-coincident-infection-with-rickettsia-rickettsii-in-rhipicephalus-sanguineus-s-l-in-an-urban-locality-of-panama-city-panama
#13
A Martínez-Caballero, B Moreno, C González, G Martínez, M Adames, J V Pachar, J B Varela-Petrucelli, J Martínez-Mandiche, J A Suárez, L Domínguez, Y Zaldívar, S Bermúdez
The clinical and pathologic characterisation of two fatal cases of tick-borne rickettsiosis in rural (El Valle) and urban (City of Panama) Panama are described. Clinical and autopsy findings were non-specific, but the molecular analysis was used to identify Rickettsia rickettsii in both cases. No ticks were collected in El Valle, while in the urban case, R. rickettsii was detected in Rhipicephalus sanguineus s.l., representing the first molecular finding in this tick in Panama and Central America.
April 5, 2018: Epidemiology and Infection
https://www.readbyqxmd.com/read/29599906/dynamic-changes-during-the-treatment-of-pancreatic-cancer
#14
Robert A Wolff, Andrea Wang-Gillam, Hector Alvarez, Hervé Tiriac, Dannielle Engle, Shurong Hou, Abigail F Groff, Anthony San Lucas, Vincent Bernard, Kelvin Allenson, Jonathan Castillo, Dong Kim, Feven Mulu, Jonathan Huang, Bret Stephens, Ignacio I Wistuba, Matthew Katz, Gauri Varadhachary, YoungKyu Park, James Hicks, Arul Chinnaiyan, Louis Scampavia, Timothy Spicer, Chiara Gerhardinger, Anirban Maitra, David Tuveson, John Rinn, Gregory Lizee, Cassian Yee, Arnold J Levine
This manuscript follows a single patient with pancreatic adenocarcinoma for a five year period, detailing the clinical record, pathology, the dynamic evolution of molecular and cellular alterations as well as the responses to treatments with chemotherapies, targeted therapies and immunotherapies. DNA and RNA samples from biopsies and blood identified a dynamic set of changes in allelic imbalances and copy number variations in response to therapies. Organoid cultures established from biopsies over time were employed for extensive drug testing to determine if this approach was feasible for treatments...
March 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29592955/characterizing-the-human-hippocampus-in-aging-and-alzheimer-s-disease-using-a-computational-atlas-derived-from-ex-vivo-mri-and-histology
#15
Daniel H Adler, Laura E M Wisse, Ranjit Ittyerah, John B Pluta, Song-Lin Ding, Long Xie, Jiancong Wang, Salmon Kadivar, John L Robinson, Theresa Schuck, John Q Trojanowski, Murray Grossman, John A Detre, Mark A Elliott, Jon B Toledo, Weixia Liu, Stephen Pickup, Michael I Miller, Sandhitsu R Das, David A Wolk, Paul A Yushkevich
Although the hippocampus is one of the most studied structures in the human brain, limited quantitative data exist on its 3D organization, anatomical variability, and effects of disease on its subregions. Histological studies provide restricted reference information due to their 2D nature. In this paper, high-resolution (∼200 × 200 × 200 μm3 ) ex vivo MRI scans of 31 human hippocampal specimens are combined using a groupwise diffeomorphic registration approach into a 3D probabilistic atlas that captures average anatomy and anatomic variability of hippocampal subfields...
April 17, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29569990/molecular-neuroimaging-in-primary-progressive-aphasia-with-predominant-agraphia
#16
Rene L Utianski, Joseph R Duffy, Rodolfo Savica, Jennifer L Whitwell, Mary M Machulda, Keith A Josephs
A 62-year-old male presented with progressive isolated writing and spelling difficulties. Neurological, neuropsychological, speech, and language evaluations identified only minimal additional abnormalities. The presenting characteristics did not meet criteria for any particular variant of primary progressive aphasia; his clinical presentation is best described as primary progressive aphasia, with a predominant, almost pure agraphia. Brain MRI showed asymmetric, bilateral parenchymal volume loss, with left hippocampal atrophy...
March 23, 2018: Neurocase
https://www.readbyqxmd.com/read/29555971/molecular-autopsy-provides-evidence-for-widespread-ribosome-phased-mrna-fragmentation
#17
Tatsuaki Kurosaki, Lynne E Maquat
No abstract text is available yet for this article.
March 19, 2018: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/29538658/fdg-pet-in-tau-negative-amnestic-dementia-resembles-that-of-autopsy-proven-hippocampal-sclerosis
#18
Hugo Botha, William G Mantyh, Melissa E Murray, David S Knopman, Scott A Przybelski, Heather J Wiste, Jonathan Graff-Radford, Keith A Josephs, Christopher G Schwarz, Walter K Kremers, Bradley F Boeve, Ronald C Petersen, Mary M Machulda, Joseph E Parisi, Dennis W Dickson, Val Lowe, Clifford R Jack, David T Jones
See Gordon (doi:10.1093/brain/awy052) for a scientific commentary on this article.Predicting underlying pathology based on clinical presentation has historically proven difficult, especially in older cohorts. Age-related hippocampal sclerosis may account for a significant proportion of elderly participants with amnestic dementia. Advances in molecular neuroimaging have allowed for detailed biomarker-based phenotyping, but in the absence of antemortem markers of hippocampal sclerosis, cases of mixed pathology remain problematic...
April 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29515400/lactic-acidosis-in-prostate-cancer-consider-the-warburg-effect
#19
Johannes C van der Mijn, Mathijs J Kuiper, Carl E H Siegert, Annabeth E Wassenaar, Carel J M van Noesel, Aernout C Ogilvie
Lactic acidosis is a commonly observed clinical condition that is associated with a poor prognosis, especially in malignancies. We describe a case of an 81-year-old patient who presented with symptoms of tachypnea and general discomfort. Arterial blood gas analysis showed a high anion gap acidosis with a lactate level of 9.5 mmol/L with respiratory compensation. CT scanning showed no signs of pulmonary embolism or other causes of impaired tissue oxygenation. Despite treatment with sodium bicarbonate, the patient developed an adrenalin-resistant cardiac arrest, most likely caused by the acidosis...
September 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/29505875/the-smaller-heparin-fragments-bind-non-specifically-through-the-iapp-sequence-an-in-silico-study
#20
Shreyasi Asthana, Mousumi Sahu, Parth Sarathi Nayak, Bibekanand Mallick, Suman Jha
The diminishing β-cell mass of pancreas in type II diabetes mellitus (TIIDM) is intricately linked with high fibrillation propensity of islet amyloid polypeptide (IAPP, aka amylin). IAPP is one of the most amyloidogenic peptide secreted by pancreatic β-cells. In the autopsy of TIIDM patients, IAPP rich amyloid plaques are found containing different components of extracellular matrix (ECM), including heparin. For a positively charged IAPP, interaction with heparin which has accessible high density negatively charged functional groups is anticipated to moderate the fibrillation kinetics...
July 1, 2018: International Journal of Biological Macromolecules
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