Cordula Haas, Jacqueline Neubauer, Andrea Patrizia Salzmann, Erin Hanson, Jack Ballantyne
The application of transcriptome analyses in forensic genetics has experienced tremendous growth and development in the past decade. The earliest studies and main applications were body fluid and tissue identification, using targeted RNA transcripts and a reverse transcription endpoint PCR method. A number of markers have been identified for the forensically most relevant body fluids and tissues and the method has been successfully used in casework. The introduction of Massively Parallel Sequencing (MPS) opened up new perspectives and opportunities to advance the field...
February 16, 2021: Forensic Science International. Genetics
Chutchai Piewbang, Sabrina Wahyu Wardhani, Jira Chanseanroj, Jakarwan Yostawonkul, Suwimon Boonrungsiman, Nattika Saengkrit, Piyaporn Kongmakee, Wijit Banlunara, Yong Poovorawan, Tanit Kasantikul, Somporn Techangamsuwan
Carnivore protoparvovirus-1 (CPPV-1), a viral species containing feline panleukopenia virus (FPV) and canine parvovirus (CPV) variants, are widely spread among domestic and wild carnivores causing systemic fatal diseases. Wild fishing cats (Prionailurus viverrinus), a globally vulnerable species, have been found dead. Postmortem examination of the carcasses revealed lesions in intestine, spleen and kidney. CPPV-1 antigen identification in these tissues, using polymerase chain reaction (PCR) and immunohistochemistry (IHC), supported the infection by the virus...
2021: PloS One
Yoichiro Takahashi, Kristen R Maynard, Madhavi Tippani, Andrew E Jaffe, Keri Martinowich, Joel E Kleinman, Daniel R Weinberger, Thomas M Hyde
Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with schizophrenia risk. Integration of RNA-sequencing data from postmortem human brains with these risk SNPs identified transcripts associated with increased schizophrenia susceptibility, including a class of exon 9-spliced isoforms of Sorting nexin-19 (SNX19d9 ) and an isoform of Arsenic methyltransferase (AS3MT) splicing out exons 2 and 3 (AS3MTd2d3 ). However, the biological function of these transcript variants is unclear...
March 1, 2021: Molecular Psychiatry
Supriya Ramesha, Sruti Rayaprolu, Christine A Bowen, Cynthia R Giver, Sara Bitarafan, Hai M Nguyen, Tianwen Gao, Michael J Chen, Ngozi Nwabueze, Eric B Dammer, Amanda K Engstrom, Hailian Xiao, Andrea Pennati, Nicholas T Seyfried, David J Katz, Jacques Galipeau, Heike Wulff, Edmund K Waller, Levi B Wood, Allan I Levey, Srikant Rangaraju
Kv1.3 potassium channels, expressed by proinflammatory central nervous system mononuclear phagocytes (CNS-MPs), are promising therapeutic targets for modulating neuroinflammation in Alzheimer's disease (AD). The molecular characteristics of Kv1.3-high CNS-MPs and their cellular origin from microglia or CNS-infiltrating monocytes are unclear. While Kv1.3 blockade reduces amyloid beta (Aβ) burden in mouse models, the downstream immune effects on molecular profiles of CNS-MPs remain unknown. We show that functional Kv1...
March 16, 2021: Proceedings of the National Academy of Sciences of the United States of America
David Jayne
The management of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) has come a long way from the first postmortem descriptions of the diseases in the 1930s and 1950s1 Pivotal phases have been the introduction of glucocorticoids (GC) and cyclophosphamide (CYC), the association with ANCA in the 1980s, and consensus classification and nomenclature systems from 1990 onwards2 .
March 1, 2021: Journal of Rheumatology
Antoinette O'Connor, Emily Abel, M R Fraser, Natalie S Ryan, Daniel A Jiménez, Carolin Koriath, Lucía Chávez-Gutiérrez, Olaf Ansorge, Catherine J Mummery, Tammaryn Lashley, Martin N Rossor, James M Polke, Simon Mead, Nick C Fox
Mutations in the Presenilin 1 (PSEN1) gene are the most common cause of autosomal dominant familial Alzheimer's disease. We report the clinical, imaging and postmortem findings of kindred carrying a novel duplication mutation (Ile168dup) in the PSEN1 gene. We interpret the pathogenicity of this novel variant and discuss the additional neurological features (pyramidal dysfunction, myoclonus and seizures) that accompanied cognitive decline. This report broadens the clinical phenotype of PSEN1 insertion mutations while also highlighting the importance of considering duplication, insertion and deletion mutations in cases of young onset dementia...
February 5, 2021: Neurobiology of Aging
Marianne L Seney, Jill Glausier, Etienne Sibille
Major depressive disorder (MDD) is a leading cause of disability, affecting more than 300 million people worldwide. We first review the well-known sex difference in incidence of MDD, with women being twice as likely to be diagnosed as men, and briefly summarize how the impact of MDD varies between men and women, with sex differences in symptoms, severity, and antidepressant drug response. We then attempt to deconstruct the biological bases for MDD and discuss implications for sex differences research. Next, we review findings from human postmortem studies, both from selected candidate gene studies and from well-powered, unbiased transcriptomics studies, which suggest distinct, and possibly opposite, molecular changes in the brains of depressed men and women...
January 8, 2021: Biological Psychiatry
Cyrus Ayubcha, Mateen Moghbel, Austin J Borja, Andrew Newberg, Thomas J Werner, Abass Alavi, Mona-Elisabeth Revheim
Tau proteins play a significant role in a variety of degenerative neurologic conditions. Postmortem neuropathology studies of victims of repeat and severe head trauma have defined a unique spatial expression of neurologic tauopathies in these individuals, known as chronic traumatic encephalopathy. Established and newly developed radiotracers are now being applied to head injury populations with the intent of diagnosis and disease monitoring. This review assesses the role of tau in head injury, the state of tau radiotracer development, and the potential clinical value of tau-PET as derived from head injury studies...
April 2021: PET Clinics
Selva Baltan, Safdar S Jawaid, Anthony M Chomyk, Grahame J Kidd, Jacqueline Chen, Harsha D Battapady, Ricky Chan, Ranjan Dutta, Bruce D Trapp
Cognitive dysfunction occurs in greater than 50% of individuals with multiple sclerosis (MS). Hippocampal demyelination is a prominent feature of postmortem MS brains and hippocampal atrophy correlates with cognitive decline in MS patients. Cellular and molecular mechanisms responsible for neuronal dysfunction in demyelinated hippocampi are not fully understood. Here we investigate a mouse model of hippocampal demyelination where twelve weeks of treatment with the oligodendrocyte toxin, cuprizone, demyelinates over 90% of the hippocampus and causes decreased memory/learning...
March 1, 2021: Acta Neuropathologica Communications
Ilaria Girolami, Desley Neil, Dorry Lidor Segev, Lucrezia Furian, Gianluigi Zaza, Ugo Boggi, Giovanni Gambaro, Tullia De Feo, Marilena Casartelli-Liviero, Massimo Cardillo, Letizia Lombardini, Laura Zampicinini, Antonietta D'Errico, Albino Eccher
BACKGROUND: clinical and imaging investigations allow a detailed assessment of an organ donor, but a quota of cancer still elude detection. Complete autopsy of donors is even less frequently performed, due to economic issues and increasing availability of high-quality imaging. The aim of this study is to gather evidence from the literature on donor malignancy discovered at autopsy following organ donation and to discuss the utility and limitations of autopsy practice in the field of transplantation...
February 20, 2021: Transplantation Reviews
Bin Yang, Xuejun Liu
Proteomics profiling disclosed the molecular mechanism underlying beef poor meat quality. This study aimed to identify protein markers indicating the quality of beef during postmortem storage at 4°C. Beef longissimus dorsi samples were stored at 4°C. The meat water holding capacity (WHC), pH value and moisture content were determined at different time points during the storage period. The iTRAQ MS/MS approach was used to determine the proteomics profiling at 0, 3.5 and 7 d during storage at 4°C. Bioinformatics analysis was performed to investigate the potential correlated proteins associated with meat quality...
2021: PloS One
Briana Mason, Corey Calhoun, Victoria Woytowicz, Latifa Pina, Roshninder Kanda, Curtis Dunn, Antonio Alves, S Tiffany Donaldson
Adolescent psychostimulant abuse has been on the rise over the past decade. This trend has demonstrable ramifications on adolescent behavior and brain morphology, increasing risk for development of addiction during adolescence and in later adulthood. Neuroimmune substrates are implicated in the etiology of substance use disorders. To add to this body of work, the current study was developed to explore the role of a chemokine receptor, CXC Chemokine Receptor 4 (CXCR4), in the development of amphetamine (AMPH) sensitization...
2021: PloS One
Alfredo Ramos-Miguel, Andrea A Jones, Vladislav A Petyuk, Vilte E Barakauskas, Alasdair M Barr, Sue E Leurgans, Philip L De Jager, Kaitlin B Casaletto, Julie A Schneider, David A Bennett, William G Honer
Age-related neuropathologies progressively impair cognitive abilities by damaging synaptic function. We aimed to identify key components within the presynaptic SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) machinery associated with cognitive performance and estimate their potential contribution to brain reserve in old age. We used targeted SRM proteomics to quantify amounts of 60 peptides, encoded in 30 different genes, in postmortem specimens of the prefrontal cortex from 1209 participants of two aging studies, with available antemortem cognitive evaluations and postmortem neuropathologic assessments...
March 1, 2021: Acta Neuropathologica
Stefania Merighi, Enrica Battistello, Ilaria Casetta, Daniela Gragnaniello, Tino Emanuele Poloni, Valentina Medici, Alice Cirrincione, Katia Varani, Fabrizio Vincenzi, Pier Andrea Borea, Stefania Gessi
BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative pathology covering about 70%of all cases of dementia. Adenosine, a ubiquitous nucleoside, plays a key role in neurodegeneration, through interaction with four receptor subtypes. The A2A receptor is upregulated in peripheral blood cells of patients affected by Parkinson's and Huntington's diseases, reflecting the same alteration found in brain tissues. However, whether these changes are also present in AD pathology has not been determined...
February 23, 2021: Journal of Alzheimer's Disease: JAD
Sephira G Ryman, Maya Yutsis, Lu Tian, Victor W Henderson, Thomas J Montine, David P Salmon, Douglas Galasko, Kathleen L Poston
BACKGROUND: Alzheimer's disease neuropathologic change (ADNC) may contribute to dementia in patients with Lewy body disease (LBD) pathology. OBJECTIVE: To examine how co-occurring ADNC impacts domain specific cognitive impairments at each pathologic stage (brainstem, limbic, cerebral cortical) of LBD. METHODS: 2,433 participants with antemortem longitudinal neuropsychological assessment and postmortem neuropathological assessment from the National Alzheimer's Coordinating Center's Uniform Data Set were characterized based on the evaluation of ADNC and LBD...
February 25, 2021: Journal of Alzheimer's Disease: JAD
Apameh Khatam-Lashgari, Mikkel Jon Henningsen, Kristine Boisen Olsen, Christina Jacobsen, Jane Preuss Hasselby, Bonnie Colville-Ebeling, Jytte Banner
Influenza virus and coronavirus pandemics regularly sweep the globe, at great cost of health and economy. Our aim was to conduct a PubMed search for autopsy studies on influenza and coronavirus to investigate the contribution of autopsies during pandemics, focussing on autopsy methods and procedures and the role of autopsy findings in pandemics. The retrieved autopsy studies generally relied on microscopy, polymerase chain reaction (PCR), immunostaining and electron microscopy. Most were small and reported on lung effects, including diffuse alveolar damage (DAD), pneumonia and tracheobronchitis...
March 1, 2021: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
Francesca N Delling, Sidney Aung, Eric Vittinghoff, Shiktij Dave, Lisa J Lim, Jeffrey E Olgin, Andrew Connolly, Ellen Moffatt, Zian H Tseng
OBJECTIVES: The goal of this study was to investigate the characteristics of mitral valve prolapse (MVP) in a post-mortem study of consecutive sudden cardiac deaths (SCDs) in subjects up to 90 years of age. BACKGROUND: Up to 2.3% of subjects with MVPs experience SCD, but by convention SCD is rarely confirmed by autopsy. In a post-mortem study of persons <40 years of age, 7% of SCDs were caused by MVP; bileaflet involvement, mitral annular disjunction (MAD), and replacement fibrosis were common...
February 19, 2021: JACC. Clinical Electrophysiology
Yu Wang, Guoliang Hu, Niu Liu, Man Wang, Rufeng Chen, Rui Zhu, Yuji Wang, Xinru Ren, Yinghui Wang, Wang Xu, Chengliang Luo, Jiangfeng Wang, Shuixiu Xia, Xiashui Xiu
Dermestidae generally appears on dry corpses and carcasses, especially if mummified or skeletonized. They are forensically important insect species for estimating longer postmortem intervals (PMI). As they develop, Dermestidae larvae undergo multiple larval ecdyses; however, a lack of guidelines for determining the larval instar limits their forensic application. Herein, we explored how temperature impacts the development of Dermestes tessellatocollis Motschulsky, 1860 (Coleoptera: Dermestidae). At seven constant temperatures (16, 19, 22, 25, 28, 31, and 34 °C), the developmental time from egg to adult was 163...
February 15, 2021: Forensic Science International
Rhona Norquay, Jayne Orr, Bob Norquay, Kathryn Amanda Ellis, John F Mee, Aaron Reeves, Sandra Scholes, Tim Geraghty
BACKGROUND: Perinatal mortality in beef calves impacts on profitability and animal welfare, but the incidence and causes in UK herds are not well known. METHODS: Data from 11 herds were analysed to establish the risk factors for and incidence of perinatal mortality (full-term calves born dead or died within 48 hours). To establish cause of death, 23 herds in total submitted dead calves for postmortem examination (nine herds submitted all calves, 14 herds submitted calves on an ad hoc basis) and the results were reviewed by a panel...
July 2020: Veterinary Record
M Font-I-Furnols, J García-Gudiño, M Izquierdo, A Brun, M Gispert, I Blanco-Penedo, F I Hernández-García
Castration is a common practice in Iberian pigs due to their advanced age and high weight at slaughter. Immunocastration (IC) is an alternative to surgical castration that influences carcass and cut fatness. These traits need to be evaluated invivo and postmortem. The aims of the present work were (a)to determine the relationship between ham composition measured with computed tomography (CT) and invivo ultrasound (US) and carcass fat thickness measurements, (b)to apply these technologies to early (EIP) and late (LIP) immunocastrated Iberian pigs in order to evaluate carcass fatness and ham tissue composition and (c)to assess meat quality on these animals and to find the relationships between meat quality traits (namely, intramuscular fat (IMF)) and fat depot thicknesses...
February 23, 2021: Animal
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