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Molecular autopsy

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https://www.readbyqxmd.com/read/27897454/considerations-for-standardizing-predictive-molecular-pathology-for-cancer-prognosis
#1
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 third 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...
November 29, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27892518/brain-microbiota-disruption-within-inflammatory-demyelinating-lesions-in-multiple-sclerosis
#2
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
#3
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...
November 28, 2016: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/27879323/issues-and-challenges-in-diagnostic-sequencing-for-inherited-cardiac-conditions
#4
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...
November 22, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27877154/immununochemical-markers-of-the-amyloid-cascade-in-the-hippocampus-in-motor-neuron-diseases
#5
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
#6
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...
November 21, 2016: 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
#7
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
#8
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...
November 4, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27810088/the-promise-and-peril-of-precision-medicine-phenotyping-still-matters-most
#9
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
#10
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...
October 18, 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
#11
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...
October 20, 2016: Glia
https://www.readbyqxmd.com/read/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#12
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
#13
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...
October 1, 2016: Bioresource Technology
https://www.readbyqxmd.com/read/27727376/molecular-autopsy-for-sudden-unexpected-death
#14
LETTER
Ali Torkamani, Evan D Muse, Emily G Spencer, Manuel Rueda, Glenn N Wagner, Jonathan R Lucas, Eric J Topol
No abstract text is available yet for this article.
October 11, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27725015/sudden-and-unexpected-childhood-deaths-investigated-at-the-pretoria-medico-legal-laboratory-south-africa-2007-2011
#15
B S Van Deventer, S H Rossouw, L Du Toit-Prinsloo
BACKGROUND:  Sudden and unexpected death is well known to occur in infants, and although sudden deaths are less frequent after the first birthday, they still account for a significant proportion of childhood deaths. In 2009, 1.9% of the total deaths in the USA were childhood deaths. In South Africa (SA) this proportion was much higher at 11.85%. According to the law, sudden and unexpected deaths are generally investigated as unnatural deaths. Establishing an exact underlying anatomical cause of death will depend on available resources and can be difficult in a substantial proportion of cases...
September 6, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27707468/does-sudden-unexplained-nocturnal-death-syndrome-remain-the-autopsy-negative-disorder-a-gross-microscopic-and-molecular-autopsy-investigation-in-southern-china
#16
Liyong Zhang, David J Tester, Di Lang, Yili Chen, Jinxiang Zheng, Rui Gao, Robert F Corliss, Shuangbo Tang, John W Kyle, Chao Liu, Michael J Ackerman, Jonathan C Makielski, Jianding Cheng
OBJECTIVE: To look for previously unrecognized cardiac structural abnormalities and address the genetic cause for sudden unexplained nocturnal death syndrome (SUNDS). METHODS: Data for 148 SUNDS victims and 444 controls (matched 1:3 on sex, race, and age of death within 1 year) were collected from Sun Yat-sen University from January 1, 1998, to December 31, 2014, to search morphological changes. An additional 17 patients with Brugada syndrome (BrS) collected from January 1, 2006, to December 31, 2014, served as a comparative disease cohort...
November 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27693656/association-of-active-human-herpesvirus-6-hhv-6-infection-with-autoimmune-thyroid-gland-diseases
#17
Alina Sultanova, Maksims Cistjakovs, Sabine Gravelsina, Svetlana Chapenko, Silvija Roga, Egils Cunskis, Zaiga Nora-Krukle, Valerija Groma, Ildze Ventina, Modra Murovska
OBJECTIVES: Viral infections have been frequently cited as important environmental factors implicated in the onset of autoimmune thyroiditis (AIT). The aim of this study was to determine the involvement of HHV-6 infection in the development of autoimmune thyroiditis. METHODS: This study included 45 patients (42 female and 3 male; median age 47.00 IQR: 38.50-57.00) with histologically, laboratory and clinically confirmed autoimmune thyroiditis, as well as 30 autopsied subjects (26 women and 4 men; median age 58...
September 29, 2016: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/27692676/sudden-death-and-cardiac-arrest-without-phenotype-the-utility-of-genetic-testing
#18
Yanushi D Wijeyeratne, Elijah R Behr
Approximately 4% of sudden cardiac deaths are unexplained [the sudden arrhythmic death syndrome (SADS)], and up to 6-10% of survivors of cardiac arrest do not have an identifiable cardiac abnormality after comprehensive clinical evaluation [idiopathic ventricular fibrillation (IVF)]. Genetic testing may be able to play a role in diagnostics and can be targeted to an underlying phenotype present in family members following clinical evaluation. Alternatively, post-mortem genetic testing (the "molecular autopsy") may diagnose the underlying cause if a clearly pathogenic rare variant is found...
August 31, 2016: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27677837/role-of-oxidative-stress-in-the-genesis-of-atherosclerosis-and-diabetes-mellitus-a-personal-look-back-on-50-years-of-research
#19
Vadim Z Lankin, Alla K Tikhaze
We have provided an overview, based on the literature and our data. In accordance with the theory of D. Harman free radical processes cause damages that can accumulate and contribute to aging of the organism. Atherosclerosis and diabetes are developing for a long time so they are manifested predominantly in old age. We found an increase in the level of free radical peroxidation products and decrease in the activity of antioxidant enzymes in the tissues of animals with experimental atherosclerosis. Similar changes were found by in the blood of patients with atherosclerosis and aortic autopsy material with atherosclerotic lesions...
September 26, 2016: Current Aging Science
https://www.readbyqxmd.com/read/27677309/protective-effects-of-reduced-dynamin-related-protein-1-against-amyloid-beta-induced-mitochondrial-dysfunction-and-synaptic-damage-in-alzheimer-s-disease
#20
Maria Manczak, Ramesh Kandimalla, David Fry, Hiromi Sesaki, P Hemachandra Reddy
The purpose of our study was to understand the protective effects of reduced expression of dynamin-related protein (Drp1) against amyloid beta (Aβ) induced mitochondrial and synaptic toxicities in Alzheimer's disease (AD) progression and pathogenesis. Our recent molecular and biochemical studies revealed that impaired mitochondrial dynamics - increased mitochondrial fragmentation and decreased fusion - in neurons from autopsy brains of AD patients and from transgenic AD mice and neurons expressing Aβ, suggesting that Aβ causes mitochondrial fragmentation in AD...
September 27, 2016: Human Molecular Genetics
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