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Molecular autopsy

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https://www.readbyqxmd.com/read/28816001/plasma-and-cerebrospinal-fluid-tau-and-neurofilament-concentrations-in-rapidly-progressive-neurological-syndromes-a-neuropathology-based-cohort
#1
G G Kovacs, U Andreasson, V Liman, G Regelsberger, M I Lutz, K Danics, E Keller, H Zetterberg, K Blennow
BACKGROUND AND PURPOSE: Cerebrospinal fluid (CSF) tau and neurofilament light chain (NF-L) proteins have proved to be reliable biomarkers for neuronal damage; however, there is a strong need for blood-based tests. METHODS: The present study included 132 autopsy cases with rapidly progressive neurological syndromes, including Alzheimer disease (AD) (21), sporadic (65) and genetic (21) Creutzfeldt-Jakob disease (CJD), 25 cases with vascular, neoplastic and inflammatory alterations, and additionally 18 healthy control individuals...
August 16, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28808237/coding-and-small-non-coding-transcriptional-landscape-of-tuberous-sclerosis-complex-cortical-tubers-implications-for-pathophysiology-and-treatment
#2
James D Mills, Anand M Iyer, Jackelien van Scheppingen, Anika Bongaarts, Jasper J Anink, Bart Janssen, Till S Zimmer, Wim G Spliet, Peter C van Rijen, Floor E Jansen, Martha Feucht, Johannes A Hainfellner, Pavel Krsek, Josef Zamecnik, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Jansen, Lieven Lagae, Paolo Curatolo, David J Kwiatkowski, R Jeroen Pasterkamp, Ketharini Senthilkumar, Lars von Oerthel, Marco F Hoekman, Jan A Gorter, Peter B Crino, Angelika Mühlebner, Brendon P Scicluna, Eleonora Aronica
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC1 or TSC2 genes leading to constitutive activation of the mechanistic target of rapamycin complex 1 (mTORC1). TSC is associated with autism, intellectual disability and severe epilepsy. Cortical tubers are believed to represent the neuropathological substrates of these disabling manifestations in TSC. In the presented study we used high-throughput RNA sequencing in combination with systems-based computational approaches to investigate the complexity of the TSC molecular network...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28807990/investigating-the-genetic-causes-of-sudden-unexpected-death-in-children-through-targeted-next-generation-sequencing-analysis
#3
Laura J Dewar, Miguel Alcaide, Daniel Fornika, Luisa D'Amato, Sanam Shafaatalab, Charles M Stevens, Thambirajah Balachandra, Susan M Phillips, Shubhayan Sanatani, Ryan D Morin, Glen F Tibbits
BACKGROUND: Inherited arrhythmia syndromes are responsible for a significant portion of autopsy-negative sudden unexpected death (SUD) cases, but molecular autopsy used to identify potentially causal variants is not routinely included in SUD investigations. We collaborated with a medical examiner's office to assist in finding a diagnosis for their autopsy-negative child SUD cases. METHODS AND RESULTS: 191 child SUD cases (<5 years of age) were selected for analyses...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28792659/molecular-alterations-in-pediatric-brainstem-gliomas
#4
Mikaela Porkholm, Anna Raunio, Reetta Vainionpää, Tarja Salonen, Juha Hernesniemi, Leena Valanne, Jarno Satopää, Atte Karppinen, Minna Oinas, Olli Tynninen, Virve Pentikäinen, Sanna-Maria Kivivuori
BACKGROUND: Diffuse intrinsic pontine gliomas (DIPGs) have a dismal prognosis. Previously, diagnosis was based on a typical clinical presentation and magnetic resonance imaging findings. After the start of the era of biopsies, DIPGs bearing H3 K27 mutations have been reclassified into a novel entity, diffuse midline glioma, based on the presence of this molecular alteration. However, it is not well established how clinically diagnosed DIPG overlap with H3 K27-mutated diffuse midline gliomas, and whether rare long-term survivors also belong to this group...
August 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28781784/prevalence-of-silent-breast-cancer-in-autopsy-specimens-as-studied-by-the-disease-being-held-by-image-guided-biopsies-the-pilot-study-and-literature-review
#5
Zacharoula Sidiropoulou, Ana Paula Vasconcelos, Cristiana Couceiro, Carlos Dos Santos, Ana Virginia Araújo, Inês Alegre, Claudia Santos, Filipa Costa, Vanessa Henriques, Carlos Neves, Fátima Cardoso, Pere Gascon
Breast cancer epidemiological patterns vary in European countries, which present different incidence rates. Data have suggested that the reduction in breast cancer mortality is not only due to the early detection of the disease, but is, in almost equal part, due to screening and to the advances that have been made in molecular medicine and the development of novel therapies. The aim of the present study is to quantify the actual number of cases of breast cancer present in both of the sexes by calculating the prevalence of silent breast cancer in corpses...
August 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28780180/neuropathology-of-parkinson-disease
#6
Dennis W Dickson
INTRODUCTION: Parkinson's disease (PD) is characterized by bradykinesia, rigidity, postural instability and tremor. Several pathologic processes can produce this syndrome, but neurodegeneration accompanied by neuronal inclusions composed of α-synuclein (Lewy bodies) is considered the typical pathologic correlate of PD. METHODS: The neuropathologic features of PD are reviewed based upon personal experience and review of the literature. Molecular pathology of PD is summarized from cell biological and animal studies...
August 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28776218/molecular-pathology-of-cerebral-tnf-%C3%AE-il-1%C3%AE-inos-and-nrf2-in-forensic-autopsy-cases-with-special-regard-to-deaths-due-to-environmental-hazards-and-intoxication
#7
Si-Hao Du, Xiao-Hui Tan, Rui Zhao, Dong Zhao, Ye Xue, Hui-Jun Wang, Xiao-Li Xie, Qi Wang
Deaths involved with environmental hazards and intoxication might present with minimal or nonspecific morphological features, which are insufficient to establish a diagnosis. The present study investigated the postmortem brain mRNA and immunohistochemical expressions of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), inducible nitric oxide synthase (iNOS) and nuclear factor erythroid-2-related factor-2 (Nrf2) in forensic cases. Relative mRNA quantification using Taqman real-time PCR assay demonstrated higher expression of IL-1β, TNF-α and iNOS, and lower expression of Nrf2 in methamphetamine intoxication and hyperthermia cases, higher expression of iNOS in phenobarbital intoxication cases, and higher expression of Nrf2 in phenobarbital intoxication and hypothermia cases...
August 3, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28765973/differential-expression-of-b-type-natriuretic-peptide-between-left-and-right-ventricles-with-particular-regard-to-sudden-cardiac-death
#8
Zhi-Peng Cao, Jia-Jia Xue, Yuan Zhang, Mei-Hui Tian, Ying Xiao, Yu-Qing Jia, Bao-Li Zhu
The aim of the present study was to investigate the differential expression of B‑type natriuretic peptide (BNP) between the left and right ventricle (RV) in sudden cardiac death (SCD). A total of 26 forensic autopsy cases of sudden death (survival time <30 min, postmortem interval <48 h or frozen within 6 h following death) in the present institute were examined. The cases consisted of acute ischemic heart disease (AIHD, n=15) with/without apparent myocardial necrosis as a sign of infarction (acute myocardial infarction, n=6; ischemic heart disease, IHD, n=9), and arrhythmogenic right ventricular cardiomyopathy (ARVC/D, n=5), in addition to traffic accidents and high falls without any pre existing heart disease as control (C, total n=6)...
August 2, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28752200/retrospective-analysis-of-769-cases-of-sudden-cardiac-death-from-2006-to-2015-a-forensic-experience-in-china
#9
Zijiao Ding, Mingzhen Yang, Yunyun Wang, Shifan Wu, Xingang Qiu, Qian Liu
Sudden cardiac death (SCD) is a major health challenge. The records of 769 autopsy cases of SCD examined at Tongji Medicolegal Expertise Center from January 2006 to December 2015 were retrospectively reviewed. The mean age of the cases was 46 years, excluding 27 victims in whom the exact age could not be confirmed. The highest incidence of SCD occurred among the 40- to 60-year-old group (45.0%). Male preponderance was observed in SCD cases (male: female ratio: 5.0:1), and this preponderance was even higher (8...
July 27, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#10
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28745206/sudden-unexplained-cardiac-deaths-in-young-adults-a-call-for-multidisciplinary-approach
#11
Bartosz Hudzik, Michal Hudzik, Andrzej Lekston, Mariusz Gasior
The investigation of death in young (<35 years), previously fit individuals, calls for a detailed autopsy with emphasis placed upon the examination of the heart. In most instances, the cause of cardiac death can be identified during autopsy. However, a large percentage of sudden deaths remain unexplained even after comprehensive medicolegal investigation, including autopsy, and are labelled as autopsy-negative sudden unexplained cardiac death (SUD). Still, when you look to the law, an autopsy, a much needed truth-finding-instrument, usually is not mandatory and is left up to the discretion of various medical or legal authorities, which when making a decision, balance various, often conflicting interests of the state and society on the one hand and of the deceased and his family on the other...
July 26, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28743126/frontal-cortex-and-hippocampal-%C3%AE-secretase-activating-protein-levels-in-prodromal-alzheimer-disease
#12
Sylvia E Perez, Muhammad Nadeem, Michael H Malek-Ahmadi, Bin He, Elliott J Mufson
BACKGROUND: β-Amyloid (Aβ) is the product of concerted cleavage of the amyloid precursor protein (APP) by β- and γ-secretases. However, the molecular mechanisms that regulate this process are not well understood. Recently, evidence was reported that γ-secretase activating protein (GSAP, 16 kDa), derived from a larger precursor protein (98 kDa), plays a role in Aβ metabolism through a mechanism involving its interaction with both γ-secretase and APP. However, a detailed evaluation of GSAP protein levels and their association with clinical and neuropathological variables are lacking during the clinical progression of Alzheimer disease (AD)...
July 26, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28731197/metastatic-gallbladder-carcinoma-in-meningioma-a-case-report
#13
Burak Eren, Feyza Karagoz Guzey, Ilker Gulec, Azmi Tufan
Metastases from tumors to systemic cancers are rare. The most common intracranial recipient tumor is meningioma. Metastasis from gallbladder cancer has been previously reported from only one patient during autopsy. We present the case of a 72-year-old woman who underwent surgery for right frontal skull base meningioma.The tumor was completely removed. Histological specimens showed gallbladder carcinomatous metastasis with diffuse neuroendocrine differentiation in meningothelial meningioma. The Ki-67 proliferation index of the meningioma was 3%...
June 2, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28729354/continuous-flow-lvad-support-causes-a-distinct-form-of-intestinal-angiodysplasia
#14
Jooeun Kang, Samson Hennessy-Strahs, Pawel Kwiatkowski, Christian Bermudez, Michael A Acker, Pavan Atluri, Patrick McConnell, Carlo R Bartoli
Rationale: The objective of this autopsy study was to determine whether abnormal gastrointestinal vascularity develops during continuous-flow LVAD support. Objective: Left ventricular assist device (LVAD) support causes pathologic degradation of von Willebrand factor (vWF) and bleeding from gastrointestinal angiodysplasia at an alarming rate. It has been speculated that LVAD support, itself may cause angiodysplasia. The relationship to abnormal vWF metabolism is unknown. We tested the hypothesis that abnormal gastrointestinal vascularity develops during continuous-flow LVAD support...
July 20, 2017: Circulation Research
https://www.readbyqxmd.com/read/28704380/molecular-investigation-by-whole-exome-sequencing-revealed-a-high-proportion-of-pathogenic-variants-among-thai-victims-of-sudden-unexpected-death-syndrome
#15
Bhoom Suktitipat, Sakda Sathirareuangchai, Ekkapong Roothumnong, Wanna Thongnoppakhun, Purin Wangkiratikant, Nutchavadee Vorasan, Rungroj Krittayaphong, Manop Pithukpakorn, Warangkna Boonyapisit
INTRODUCTION: Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims. MATERIALS AND METHODS: A detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28700993/the-impact-of-oxidative-stress-factors-on-the-viability-senescence-and-methylation-status-of-olfactory-bulb-derived-glial-cells-isolated-from-human-cadaver-donors
#16
Krzysztof Marycz, Katarzyna Kornicka, Jakub Grzesiak, Krzysztof A Tomaszewski, Dariusz Szarek, Paweł Kopacz
The olfactory bulb (OB) is a unique structure in the central nervous system that retains the ability to create new neuronal connections. Glial cells isolated from the OB have been recently considered as a novel and promising tool to establish an effective therapy for central nervous system injuries. Due to the hindered access to autologous tissue for cell isolation, an allogeneic source of tissues obtained postmortem has been proposed. In this study, we focused on the morphological and molecular characteristics of human OB-derived glial cells isolated postmortem, at different time points after a donor's death...
2017: Cells, Tissues, Organs
https://www.readbyqxmd.com/read/28692683/contribution-of-molecular-analysis-to-the-typification-of-the-non-functioning-pituitary-adenomas
#17
Laura Sanchez-Tejada, Ruth Sanchez-Ortiga, Cristina Lamas, Rosa Camara, Pedro Riesgo, Carmen Fajardo, Francisco Ignacio Aranda, Antonio Pico
AIM: The WHO Classification of Tumours of Endocrine Organs considers the inmunohistochemical characterization of pituitary adenomas (PA) as mandatory for patient diagnosis. Recent advances in the knowledge of the molecular patterns of these tumours could complement this classification with gene expression profiling. METHODS: Within the context of the Spanish Molecular Registry of Pituitary Adenomas (REMAH), a multicentre clinical-basic research project, we analysed the molecular phenotype of 142 PAs with complete IHC and clinical information...
2017: PloS One
https://www.readbyqxmd.com/read/28677371/neuropathological-characteristics-of-the-brain-in-two-patients-with-slc19a3-mutations-related-to-the-biotin-thiamine-responsive-basal-ganglia-disease
#18
Maciej Pronicki, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Dariusz Rokicki, Elżbieta Ciara, Joanna Trubicka, Katarzyna Iwanicka-Pronicka, Magdalena Pajdowska, Marek Migdał, Wieslawa A Grajkowska
<i>Biotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine transporter gene. Nowadays, a potentially effective treatment is known, therefore the early diagnosis is mandatory. The aim of the paper was to assess the contribution of neuropathological and magnetic resonance imaging (MRI) studies to a proper diagnosis. We present the brain study of two Polish patients with SLC19A3 mutations, including (1) an infant with an intriguing "walnut" appearance of the brain autopsied many years before the discovery of the SLC19A3 defect, and (2) a one-year-old patient with clinical features of Leigh syndrome...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28641541/-stress-is-80-years-old-from-hans-selye-original-paper-in-1936-to-recent-advances-in-gi-ulceration
#19
Sandor Szabo, Masashi Yoshida, Janos Filakovszky, Gyorgy Juhasz
The first scientific publication on 'general adaption syndrome', or as we know today 'biologic stress' has been published in Nature in 1936 by the 29-year old Hans Selye. His results in that short publication that contained no references or illustrations, were based on experiments in rats that were exposed to severe insults/stressors, but his idea about a 'nonspecific bodily response' originated from his observations of sick patients whom he had seen as a medical students and young clinician. Autopsy of stressed rats revealed three major, grossly visible changes: hyperemia and enlargement of the adrenals, atrophy of the thymus and lymph nodes as well as hemorrhagic gastric erosions/ulcers (the "stress triad")...
June 22, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28631109/increasing-the-reach-of-forensic-genetics-with-massively-parallel-sequencing
#20
REVIEW
Bruce Budowle, Sarah E Schmedes, Frank R Wendt
The field of forensic genetics has made great strides in the analysis of biological evidence related to criminal and civil matters. More so, the discipline has set a standard of performance and quality in the forensic sciences. The advent of massively parallel sequencing will allow the field to expand its capabilities substantially. This review describes the salient features of massively parallel sequencing and how it can impact forensic genetics. The features of this technology offer increased number and types of genetic markers that can be analyzed, higher throughput of samples, and the capability of targeting different organisms, all by one unifying methodology...
June 19, 2017: Forensic Science, Medicine, and Pathology
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