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Molecular autopsy

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28845389/ebv-driven-natural-killer-cell-disease-of-the-central-nervous-system-presenting-as-subacute-cognitive-decline
#7
Francesca M Brett, Richard Flavin, Daphne Chen, Teresa Loftus, Seamus Looby, Allan McCarthy, Cillian de Gascun, Elaine S Jaffe, Nurul Nor, Mohsen Javadpour, Dominick McCabe
Brain biopsy in patients presenting with subacute encephalopathyis never straightforward and only undertaken when a 'treatable condition' is a realistic possibility. This 63 year old right handed, immunocompetent Caucasian woman presented with an 8 month history of rapidly progressive right-sided hearing impairment, a 4 month history of intermittent headaches, tinnitus, 'dizziness', dysphagia, nausea and vomiting, with the subsequent evolution of progressive gait ataxia and a subacute global encephalopathy...
November 2017: Human Pathology (New York)
https://www.readbyqxmd.com/read/28843747/arrhythmogenic-right-ventricular-cardiomyopathy-arvc-in-a-young-female-athlete-at-36-weeks-gestation-a-case-report
#8
Hae Yoon Grace Choung, Monika Vyas, Daniel Jacoby, Brian West
A 26year old east African professional athlete presented to the obstetric clinic for a routine visit at 36 weeks gestation. She had a history of Right Ventricular Outflow Tract - Ventricular Tachycardia (RVOT-VT) with an episode of cardiac arrest in the past, and had been treated with ablation 4 years earlier. Her current visit was uneventful, her pregnancy progressing normally. Following the visit she went to a local restaurant where she suffered a cardiac arrest that was unresponsive to therapy. Chest compressions were continued from the time of her collapse until an emergency caesarian section was performed, delivering a healthy female infant...
July 25, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28842750/-requirements-of-neurologists-for-autopsies
#9
REVIEW
W J Schulz-Schaeffer, U Dillmann, K Faßbender, A Wrede
BACKGROUND: In assuring the quality of the healthcare system, it is the intention of healthcare politics to raise the number of clinical autopsies. OBJECTIVE: What are the requirements of clinical neurologists for neuroautopsies and how can the post-mortem examiner cope with these requests? METHODS: Discussion on how the questions that arise with the most relevant neurological disease groups can be solved by post-mortem examination. RESULTS: The diagnostics of inflammatory, inflammatory demyelinating and demyelinating brain diseases, neurodegenerative diseases and neuromuscular diseases as well as central nervous system tumors necessitate the removal of specific brain regions, specific examination techniques, immunohistochemical investigations or specific samples taken for biochemical, molecular pathological or genetic investigations according to international published consensus criteria...
August 25, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28816001/plasma-and-cerebrospinal-fluid-tau-and-neurofilament-concentrations-in-rapidly-progressive-neurological-syndromes-a-neuropathology-based-cohort
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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)...
October 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
#18
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
#19
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
#20
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
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