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Molecular autopsy

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https://www.readbyqxmd.com/read/28062563/pathology-of-neurodegenerative-diseases
#1
Brittany N Dugger, Dennis W Dickson
Neurodegenerative disorders are characterized by progressive loss of selectively vulnerable populations of neurons, which contrasts with select static neuronal loss because of metabolic or toxic disorders. Neurodegenerative diseases can be classified according to primary clinical features (e.g., dementia, parkinsonism, or motor neuron disease), anatomic distribution of neurodegeneration (e.g., frontotemporal degenerations, extrapyramidal disorders, or spinocerebellar degenerations), or principal molecular abnormality...
January 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28049543/the-level-of-free-circulating-mitochondrial-dna-in-blood-as-predictor-of-death-in-case-of-acute-coronary-syndrome
#2
Nikolay P Sudakov, Konstantin A Apartsin, Svetlana A Lepekhova, Sergey B Nikiforov, Alexander I Katyshev, Galina I Lifshits, Anna V Vybivantseva, Yuri M Konstantinov
BACKGROUND: The efficacy of treating acute myocardial ischemic damages depends, to a large extent, on the development of technologies for predicting their course and outcome. The aim of this paper was to explore whether it would be possible to consider the content of free circulating mitochondrial DNA as a danger-associated molecular pattern for assessing the probability of death from myocardial infarction. METHODS: We have analyzed the clinical outcomes based on discharge summaries and autopsy reports obtained in the course of the PROTOCOL observational trial...
January 3, 2017: European Journal of Medical Research
https://www.readbyqxmd.com/read/28045696/sudden-death-in-a-male-infant-due-to-histiocytoid-cardiomyopathy-an-autopsy-case-and-review-of-the-literature
#3
Hanbing Xie, Xueqin Chen, Ni Chen, Qiao Zhou
Histiocytoid cardiomyopathy (HC) is a very rare cardiac disorder that mainly affects female infants younger than 2 years. It may manifest as ventricular tachycardia or dilated cardiomyopathy and frequently causes sudden death. The most common grossly change is multifocal uneven thickening of the endocardium, presenting a yellowish color, with some area forming nodular appearance, and histologically featured by scattered clusters of histiocytoid myocytes under the endocardium. Here, we present a 19-month-old male infant who died of heart failure, and an autopsy was performed and confirmed the diagnosis of HC...
December 30, 2016: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28039370/hippocampal-%C3%AE-synuclein-in-dementia-with-lewy-bodies-contributes-to-memory-impairment-and-is-consistent-with-spread-of-pathology
#4
David H Adamowicz, Subhojit Roy, David P Salmon, Douglas R Galasko, Lawrence A Hansen, Eliezer Masliah, Fred H Gage
: Despite considerable research to uncover them, the anatomic and neuropathologic correlates of memory impairment in dementia with Lewy bodies (DLB) remain unclear. While some studies have implicated Lewy bodies in the neocortex, others have pointed to α-synuclein pathology in the hippocampus. We systematically examined hippocampal Lewy pathology and its distribution in hippocampal subfields in 95 clinically and neuropathologically characterized human cases of DLB, finding that α-synuclein pathology was highest in two hippocampal-related subregions: the CA2 subfield and the entorhinal cortex (EC)...
December 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28034880/polyclonal-secondary-fgfr2-mutations-drive-acquired-resistance-to-fgfr-inhibition-in-patients-with-fgfr2-fusion-positive-cholangiocarcinoma
#5
Lipika Goyal, Supriya K Saha, Leah Y Liu, Giulia Siravegna, Ignaty Leshchiner, Leanne G Ahronian, Jochen K Lennerz, Phuong Vu, Vikram Deshpande, Avinash Kambadakone, Benedetta Mussolin, Stephanie Reyes, Laura Henderson, Jiaoyuan Elisabeth Sun, Emily E Van Seventer, Joseph M Gurski, Sabrina Baltschukat, Barbara Schacher-Engstler, Louise Barys, Christelle Stamm, Pascal Furet, David P Ryan, James R Stone, A John Iafrate, Gad Getz, Diana Graus Porta, Ralph Tiedt, Alberto Bardelli, Dejan Juric, Ryan B Corcoran, Nabeel Bardeesy, Andrew X Zhu
Genetic alterations in the fibroblast growth factor receptor (FGFR) pathway are promising therapeutic targets in many cancers, including intrahepatic cholangiocarcinoma (ICC). The FGFR inhibitor BGJ398 displayed encouraging efficacy in patients with FGFR2 fusion-positive ICC in a phase II trial, but the durability of response was limited in some patients. Here, we report the molecular basis for acquired resistance to BGJ398 in three patients via integrative genomic characterization of cell-free circulating tumor DNA (cfDNA), primary tumors, and metastases...
December 29, 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27930701/natural-and-undetermined-sudden-death-value-of-post-mortem-genetic-investigation
#6
Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, Ramon Brugada
BACKGROUND: Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases. METHODS AND FINDINGS: Our cohort included a total of 789 consecutive cases (77...
2016: PloS One
https://www.readbyqxmd.com/read/27923814/mir-483-targeting-of-ctgf-suppresses-endothelial-to-mesenchymal-transition-therapeutic-implications-in-kawasaki-disease
#7
Ming He, Zhen Chen, Marcy Martin, Jin Zhang, Panjamaporn Sangwung, Brian Woo, Adriana Tremoulet, Chisato Shimizu, Mukesh K Jain, Jane C Burns, John Shyy
RATIONALE: Endothelial-to-mesenchymal transition (EndoMT) is implicated in myofibroblast-like cell-mediated damage to the coronary arterial wall in acute Kawasaki disease (KD) patients, as evidenced by positive staining for connective tissue growth factor (CTGF) and EndoMT markers in KD autopsy tissues. However, little is known about the molecular basis of EndoMT involved in KD. OBJECTIVE: We investigated the microRNA (miRNA) regulation of CTGF and the consequent EndoMT in KD pathogenesis...
December 6, 2016: Circulation Research
https://www.readbyqxmd.com/read/27897454/considerations-for-standardizing-predictive-molecular-pathology-for-cancer-prognosis
#8
Michelangelo Fiorentino, Marina Scarpelli, Antonio Lopez-Beltran, Liang Cheng, Rodolfo Montironi
Molecular tests that were once ancillary to the core business of cyto-histopathology are becoming the most relevant workload in pathology departments after histopathology/cytopathology and before autopsies. This has resulted from innovations in molecular biology techniques, which have developed at an incredibly fast pace. Areas covered: Most of the current widely used techniques in molecular pathology such as FISH, direct sequencing, pyrosequencing, and allele-specific PCR will be replaced by massive parallel sequencing that will not be considered next generation, but rather, will be considered to be current generation sequencing...
January 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27892518/brain-microbiota-disruption-within-inflammatory-demyelinating-lesions-in-multiple-sclerosis
#9
W G Branton, J Q Lu, M G Surette, R A Holt, J Lind, J D Laman, C Power
Microbial communities reside in healthy tissues but are often disrupted during disease. Bacterial genomes and proteins are detected in brains from humans, nonhuman primates, rodents and other species in the absence of neurological disease. We investigated the composition and abundance of microbiota in frozen and fixed autopsied brain samples from patients with multiple sclerosis (MS) and age- and sex-matched nonMS patients as controls, using neuropathological, molecular and bioinformatics tools. 16s rRNA sequencing revealed Proteobacteria to be the dominant phylum with restricted diversity in cerebral white matter (WM) from MS compared to nonMS patients...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27891566/sudden-death-associated-with-syndromic-craniosynostosis
#10
Alžbeta Ginelliová, Daniel Farkaš, Silvia Farkašová Iannaccone, Vlasta Vyhnálková, Peter Vasovčák
In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis...
December 2016: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/27879323/issues-and-challenges-in-diagnostic-sequencing-for-inherited-cardiac-conditions
#11
REVIEW
Roddy Walsh, Stuart A Cook
BACKGROUND: Inherited cardiac conditions are a relatively common group of Mendelian diseases associated with ill health and death, often in the young. Research into the genetic causes of these conditions has enabled confirmatory and predictive diagnostic sequencing to become an integral part of the clinical management of inherited cardiomyopathies, arrhythmias, aortopathies, and dyslipidemias. CONTENT: Currently, the principle benefit of clinical genetic testing is the cascade screening of family members of patients with a pathogenic variant, enabling targeted follow up of presymptomatic genotype-positive individuals and discharge of genotype-negative individuals to health...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/27877154/immununochemical-markers-of-the-amyloid-cascade-in-the-hippocampus-in-motor-neuron-diseases
#12
Ulises Gómez-Pinedo, Rocio N Villar-Quiles, Lucia Galán, Jordi A Matías-Guiu, Maria S Benito-Martin, Antonio Guerrero-Sola, Teresa Moreno-Ramos, Jorge Matías-Guiu
BACKGROUND: Several findings suggest that the amyloid precursor protein (APP) and the amyloid cascade may play a role in motor neuron disease (MND). OBJECTIVE: Considering that dementia is one of the most frequent non-motor symptoms in amyotrophic lateral sclerosis (ALS) and that hippocampus is one of the brain areas with greater presence of amyloid-related changes in neurodegenerative diseases, our aim was to analyze the molecular markers of the amyloid cascade of APP in pathology studies of the hippocampus of autopsied patients with ALS and ALS-frontotemporal dementia (FTD)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27875378/cushing-syndrome-in-carney-complex-clinical-pathologic-and-molecular-genetic-findings-in-the-17-affected-mayo-clinic-patients
#13
Kathleen M Lowe, William F Young, Charalampos Lyssikatos, Constantine A Stratakis, J Aidan Carney
Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder...
February 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27829072/autopsy-prevalence-of-tuberculosis-and-other-potentially-treatable-infections-among-adults-with-advanced-hiv-enrolled-in-out-patient-care-in-south-africa
#14
Aaron S Karat, Tanvier Omar, Anne von Gottberg, Mpho Tlali, Violet N Chihota, Gavin J Churchyard, Katherine L Fielding, Suzanne Johnson, Neil A Martinson, Kerrigan McCarthy, Nicole Wolter, Emily B Wong, Salome Charalambous, Alison D Grant
BACKGROUND: Early mortality among HIV-positive adults starting antiretroviral therapy (ART) remains high in resource-limited settings, with tuberculosis (TB) the leading cause of death. However, current methods to estimate TB-related deaths are inadequate and most autopsy studies do not adequately represent those attending primary health clinics (PHCs). This study aimed to determine the autopsy prevalence of TB and other infections in adults enrolled at South African PHCs in the context of a pragmatic trial of empiric TB treatment ("TB Fast Track")...
2016: PloS One
https://www.readbyqxmd.com/read/27826014/generation-of-disease-specific-autopsy-confirmed-ipscs-lines-from-postmortem-isolated-peripheral-blood-mononuclear-cells
#15
Kinsley Belle, Francelethia S Shabazz, Karen Nuytemans, David A Davis, Aleena Ali, Juan L Young, William K Scott, Deborah C Mash, Jeffrey M Vance, Derek M Dykxhoorn
Understanding the molecular mechanisms that underlie neurodegenerative disorders has been hampered by a lack of readily available model systems that replicate the complexity of the human disease. Recent advances in stem cell technology have facilitated the derivation of patient-specific stem cells from a variety of differentiated cell types. These induced pluripotent stem cells (iPSCs) are attractive disease models since they can be grown and differentiated to produce large numbers of disease-relevant cell types...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27810088/the-promise-and-peril-of-precision-medicine-phenotyping-still-matters-most
#16
REVIEW
Jaeger P Ackerman, Daniel C Bartos, Jamie D Kapplinger, David J Tester, Brian P Delisle, Michael J Ackerman
We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to identify the true cause of a case of sudden death in the young. Surrogate genetic testing of a decedent's living brother identified a rare KCNQ1-V133I variant, which prompted an implantable cardioverter defibrillator and subsequent diagnosis of LQTS in other family members. Subsequently, this presumed LQT1 family came to our institution for further clinical evaluation and research-based investigations, including KCNQ1-V133I variant-specific analysis of the decedent, heterologous expression studies of KCNQ1-V133I, and a whole-exome molecular autopsy along with genomic triangulation using his unaffected parents' DNA...
October 8, 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27764040/123i-fp-cit-and-99mtc-hmpao-in-pathologically-confirmed-progressive-supranuclear-palsy
#17
Manuela Cristina Matesan, Saeed Elojeimy, Satoshi Minoshima
Molecular brain imaging I-FP-CIT SPECT is an important tool in evaluation of patients with parkinsonism. However, various neurodegenerative etiologies cannot be differentiated by I-FP-CIT SPECT alone. We present a case of progressive supranuclear palsy with abnormal I-FP-CIT SPECT and abnormal Tc-HMPAO SPECT depicted by quantitative analyses but unremarkable MRI 16 months after the onset of symptoms. Brain autopsy demonstrated presence of neuronal and glial tau pathology in both cortical and subcortical regions confirming the diagnosis of progressive supranuclear palsy...
December 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27761954/novel-insights-into-role-of-mir-320a-vdac1-axis-in-astrocyte-mediated-neuronal-damage-in-neuroaids
#18
Mahar Fatima, Bharat Prajapati, Kanza Saleem, Rina Kumari, Chitra Mohindar Singh Singal, Pankaj Seth
Astroglia are indispensable component of the tripartite synapse ensheathing innumerous soma and synapses. Its proximity to neurons aids the regulation of neuronal functions, health and survival through dynamic neuroglia crosstalk. Susceptibility of astrocyte to HIV-1 infection and subsequent latency culminates in compromised neuronal health. The viral protein HIV-1 transactivator of transcription (Tat) is neurotoxic. HIV-1 Tat is detected in brain of AIDS patients even in cases where viral load is non-detectable due to successful HAART therapy...
February 2017: Glia
https://www.readbyqxmd.com/read/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#19
REVIEW
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27741471/integrated-approach-to-characterize-fouling-on-a-flat-sheet-membrane-gravity-driven-submerged-membrane-bioreactor
#20
Luca Fortunato, Sanghyun Jeong, Yiran Wang, Ali R Behzad, TorOve Leiknes
Fouling in membrane bioreactors (MBR) is acknowledged to be complex and unclear. An integrated characterization methodology was employed in this study to understand the fouling on a gravity-driven submerged MBR (GD-SMBR). It involved the use of different analytical tools, including optical coherence tomography (OCT), liquid chromatography with organic carbon detection (LC-OCD), total organic carbon (TOC), flow cytometer (FCM), adenosine triphosphate analysis (ATP) and scanning electron microscopy (SEM). The three-dimensional (3D) biomass morphology was acquired in a real-time through non-destructive and in situ OCT scanning of 75% of the total membrane surface directly in the tank...
December 2016: Bioresource Technology
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