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Molecular autopsy

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https://www.readbyqxmd.com/read/28434940/prospective-isolation-and-comparison-of-human-germinal-matrix-and%C3%A2-glioblastoma-egfr-populations-with-stem-cell-properties
#1
Jessica Tome-Garcia, Rut Tejero, German Nudelman, Raymund L Yong, Robert Sebra, Huaien Wang, Mary Fowkes, Margret Magid, Martin Walsh, Violeta Silva-Vargas, Elena Zaslavsky, Roland H Friedel, Fiona Doetsch, Nadejda M Tsankova
Characterization of non-neoplastic and malignant human stem cell populations in their native state can provide new insights into gliomagenesis. Here we developed a purification strategy to directly isolate EGFR(+/-) populations from human germinal matrix (GM) and adult subventricular zone autopsy tissues, and from de novo glioblastoma (GBM) resections, enriching for cells capable of binding EGF ligand ((LB)EGFR(+)), and uniquely compared their functional and molecular properties. (LB)EGFR(+) populations in both GM and GBM encompassed all sphere-forming cells and displayed proliferative stem cell properties in vitro...
April 19, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28429735/phylogenetic-analysis-of-metastatic-progression-in-breast-cancer-using-somatic-mutations-and-copy-number-aberrations
#2
David Brown, Dominiek Smeets, Borbála Székely, Denis Larsimont, A Marcell Szász, Pierre-Yves Adnet, Françoise Rothé, Ghizlane Rouas, Zsófia I Nagy, Zsófia Faragó, Anna-Mária Tőkés, Magdolna Dank, Gyöngyvér Szentmártoni, Nóra Udvarhelyi, Gabriele Zoppoli, Lajos Pusztai, Martine Piccart, Janina Kulka, Diether Lambrechts, Christos Sotiriou, Christine Desmedt
Several studies using genome-wide molecular techniques have reported various degrees of genetic heterogeneity between primary tumours and their distant metastases. However, it has been difficult to discern patterns of dissemination owing to the limited number of patients and available metastases. Here, we use phylogenetic techniques on data generated using whole-exome sequencing and copy number profiling of primary and multiple-matched metastatic tumours from ten autopsied patients to infer the evolutionary history of breast cancer progression...
April 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28391405/postmortem-genetic-testing-should-be-recommended-in-sudden-cardiac-death-cases-due-to-thoracic-aortic-dissection
#3
Marina Gago-Díaz, Eva Ramos-Luis, Silvia Zoppis, Esther Zorio, Pilar Molina, Aitana Braza-Boïls, Juan Giner, Beatriz Sobrino, Jorge Amigo, Alejandro Blanco-Verea, Ángel Carracedo, María Brion
BACKGROUND: Acute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases...
April 8, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28381766/recent-advances-in-fluorescent-angioscopy-for-molecular-imaging-of-human-atherosclerotic-coronary-plaque
#4
Yasumi Uchida
PURPOSE OF REVIEW: In vivo imaging of the native substances, including lipoproteins, that comprise human atherosclerotic plaques is currently beyond the scope of any available imaging techniques. Color and near-infrared fluorescent angioscopy (CFA and NIRFA, respectively) systems have been recently developed for molecular imaging of lipoproteins within the human coronary arterial wall ex vivo and/or in vivo. The author reviews recent findings on lipoprotein deposition in human coronary plaques obtained by these imaging techniques...
April 4, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28371920/diffuse-intrinsic-pontine-gliomas-current-management-and-new-biologic-insights-is-there-a-glimmer-of-hope
#5
Kenneth J Cohen, Nada Jabado, Jacques Grill
Diffuse intrinsic pontine glioma (DIPG) has proven to be one of the most challenging of all pediatric cancers. Owing to a historical reticence to obtain tumor tissue for study, and based on an erroneous assumption that the biology of DIPG would mirror that of supratentorial high-grade astrocytomas, innumerable studies have been undertaken-all of which have had a negligible impact on the natural history of this disease. More recently, improvements in neurosurgical techniques have allowed for the safe upfront biopsy of DIPG, which, together with a wider use of autopsy tissue, has led to an evolving understanding of the biology of this tumor...
March 24, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28367253/milestones-in-pathology-from-histology-to-molecular-biology
#6
REVIEW
Leonhard Müllauer
Autopsy, histology and cytology have been and histology and cytology still are the main diagnostic tools in surgical pathology. During the last two decades molecular biology gradually has extended the diagnostic armamentarium. In tumor pathology molecular biology techniques are used to diagnose and subclassify tumors, predict response to therapies and identify therapeutic targets. Molecular pathology has evolved into a novel focus of clinical pathology and transforms the historically morphology based discipline...
2017: Memo
https://www.readbyqxmd.com/read/28363160/ion-channelopathies-associated-genetic-variants-as-the-culprit-for-sudden-unexplained-death
#7
REVIEW
Shouyu Wang, Lijuan Li, Ruiyang Tao, Yuzhen Gao
Forensic identification of sudden unexplained death (SUD) has always been a ticklish issue because it used to be defined as sudden death without a conclusive diagnosis after autopsy. However, benefiting from the developments in genome research, a growing body of evidence points to the importance of ion channelopathies associated genetic variants in the pathogenesis of SUD. Genetic diagnosis of the deceased is also a new trend in epidemiological studies, for it enables the undertaking for preventive approach in individuals with high risks...
March 21, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28333919/exome-sequencing-based-molecular-autopsy-of-formalin-fixed-paraffin-embedded-tissue-after-sudden-death
#8
Richard D Bagnall, Jodie Ingles, Laura Yeates, Samuel F Berkovic, Christopher Semsarian
PURPOSE: Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome sequencing-based molecular autopsy after sudden death in the young. METHODS: We collected clinical and postmortem information from patients with sudden death...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28325580/perinatal-death-investigations-what-is-current-practice
#9
REVIEW
J W Nijkamp, N J Sebire, K Bouman, F J Korteweg, J J H M Erwich, S J Gordijn
Perinatal death (PD) is a devastating obstetric complication. Determination of cause of death helps in understanding why and how it occurs, and it is an indispensable aid to parents wanting to understand why their baby died and to determine the recurrence risk and management in subsequent pregnancy. Consequently, a perinatal death requires adequate diagnostic investigation. An important first step in the analysis of PD is to identify the case circumstances, including relevant details regarding maternal history, obstetric history and current pregnancy (complications are evaluated and recorded)...
March 15, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28323918/elucidating-the-role-of-the-desmosome-protein-p53-apoptosis-effector-related-to-pmp-22-perp-in-growth-hormone-tumors
#10
Katja Kiseljak-Vassiliades, Taylor S Mills, Yu Zhang, Mei Xu, Kevin O Lillehei, B K Kleinschmidt-DeMasters, Margaret E Wierman
Purpose: Densely granulated (DG) and sparsely granulated (SG) growth hormone (GH) pituitary adenomas differ in biological behavior which may be correlated with their known differences in cytoplasmic keratin distribution and E-cadherin expression. We desired to explore candidate genes which might further explain this behavior. Methods: Exon expression microarray was performed on 21 GH tumors (10 SG and 11 DG) and 20 normal control pituitaries from autopsy. Results: Bioinformatic analyses confirmed a differential molecular signature between normal pituitary and GH tumors as well as between the GH tumor subtypes...
February 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28322283/susceptibility-to-neurofibrillary-tangles-role-of-the-ptprd-locus-and-limited-pleiotropy-with-other-neuropathologies
#11
L B Chibnik, C C White, S Mukherjee, T Raj, L Yu, E B Larson, T J Montine, C D Keene, J Sonnen, J A Schneider, P K Crane, J M Shulman, D A Bennett, P L De Jager
Tauopathies, including Alzheimer's disease (AD) and other neurodegenerative conditions, are defined by a pathological hallmark: neurofibrillary tangles (NFTs). NFT accumulation is thought to be closely linked to cognitive decline in AD. Here, we perform a genome-wide association study for NFT pathologic burden and report the association of the PTPRD locus (rs560380, P=3.8 × 10(-8)) in 909 prospective autopsies. The association is replicated in an independent data set of 369 autopsies. The association of PTPRD with NFT is not dependent on the accumulation of amyloid pathology...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28319253/heat-shock-protein-expression-in-cerebral-x-linked-adrenoleukodystrophy-reveals-astrocyte-stress-prior-to-myelin-loss
#12
Anna Lena Görtz, Laura A N Peferoen, Wouter H Gerritsen, Johannes M van Noort, Marianna Bugiani, Sandra Amor
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a genetic white matter disorder in which demyelination occurs due to accumulation of very long chain fatty acids. Inflammation in the brain white matter is a hallmark of the pathology of cerebral X-ALD, but the underlying pathogenic mechanisms are still largely unknown. In other inflammatory demyelinating disorders such as multiple sclerosis, the expression of heat shock proteins (HSPs) in combination with interferon-γ (IFN-γ) has been suggested to play a prominent role in the initiation of demyelination and inflammation...
March 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28315694/incorporation-of-autopsy-case-based-learning-into-phd-graduate-education-a-novel-approach-to-bridging-the-bench-to-bedside-gap
#13
Erin G Brooks, Joanne M Thornton, Erik A Ranheim, Zsuzsanna Fabry
Given the current rapid expansion of biological knowledge and the challenges of translating that knowledge into clinical practice, finding effective methods of teaching graduate students clinical medicine concepts has become even more critical. The utility of autopsy in medical student and resident education has been well-established. Multiple studies have reported it to be a helpful means of teaching anatomy, pathophysiology, clinical problem-solving skills, and medical diagnostic techniques. While various models of training Ph...
March 15, 2017: Human Pathology
https://www.readbyqxmd.com/read/28295973/cutaneous-phaeohyphomycosis-in-a-hematopoietic-stem-cell-transplant-patient-caused-by-alternaria-rosae-first-case-report
#14
Amy W Liu, Allen C Bateman, Adam Greenbaum, Kanishka Garvin, Jill Clarridge, Jonathan Grim
Alternaria species have been reported as a rare cause of fungal infection in organ and stem cell transplant recipients, but to date no reports have been published of infection in humans caused by Alternaria rosae. Here, we report cutaneous A. rosae infection in a 66-year-old farmer with a history of primary myelofibrosis who had undergone allogeneic unrelated donor hematopoietic stem cell transplantation. Forty-nine days post transplant, he presented with a nodule on the thumb with no findings suggestive of disseminated infection...
March 13, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28285370/metabolomics-and-neuroanatomical-evaluation-of-post-mortem-changes-in-the-hippocampus
#15
Carolina Gonzalez-Riano, Silvia Tapia-González, Antonia García, Alberto Muñoz, Javier DeFelipe, Coral Barbas
Understanding the human brain is the ultimate goal in neuroscience, but this is extremely challenging in part due to the fact that brain tissue obtained from autopsy is practically the only source of normal brain tissue and also since changes at different levels of biological organization (genetic, molecular, biochemical, anatomical) occur after death due to multiple mechanisms. Here we used metabolomic and anatomical techniques to study the possible relationship between post-mortem time (PT)-induced changes that may occur at both the metabolomics and anatomical levels in the same brains...
March 11, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28275243/the-microrna-expression-signature-of-small-cell-lung-cancer-tumor-suppressors-of-mir-27a-5p-and-mir-34b-3p-and-their-targeted-oncogenes
#16
Keiko Mizuno, Hiroko Mataki, Takayuki Arai, Atsushi Okato, Kazuto Kamikawaji, Tomohiro Kumamoto, Tsubasa Hiraki, Kazuhito Hatanaka, Hiromasa Inoue, Naohiko Seki
Small cell lung cancer (SCLC) constitutes approximately 15% of all diagnosed lung cancers. SCLC is a particularly lethal malignancy, as the 2-year survival rate after appropriate treatment is less than 5%. The patients with SCLC have not been received a benefit of the recently developed molecular targeted treatment. Therefore, a new treatment strategy is necessary for the patients. The molecular mechanisms underlying the aggressiveness of SCLC cells and their development of treatment-resistance are still ambiguous...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28272680/tert-expression-in-pituitary-adenomas
#17
Nuray Can, Mehmet Çelik, Buket Yilmaz Bülbül, Necdet Süt, Filiz Özyilmaz, Semra Aytürk, Sibel Guldiken, Nurtaç Sarikaş, Fulya Öz Puyan, Tülin Deniz Yalta, Ali Kemal Kutlu
OBJECTIVE: Although pituitary adenomas have benign histomorphological features, some of them may present in an aggressive manner. To predict the behaviour of these tumours, telomerase reverse transcriptase (TERT) activity in pituitary adenomas has been the subject of a few studies with contradictory results. This study aims to investigate whether immunohistochemical expression of TERT differs in neoplastic and nonneoplastic pituitary tissues and aims to investigate whether TERT expression is related to clinicopathological features of pituitary adenomas...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28257950/redescription-and-molecular-characterization-of-anoplocephala-manubriata-railliet-et-al-1914-cestoda-anoplocephalidae-from-a-sri-lankan-wild-elephant-elephas-maximus
#18
K U E Perera, Susiji Wickramasinghe, B V P Perera, K B A T Bandara, R P V J Rajapakse
The present work provides a detailed morphological and molecular description of Anoplocephala manubriata in elephants. Adult worms were recovered during an autopsy of a wild elephant in Elephant Transit Home, Udawalawe, Sri Lanka. Necropsy findings revealed a severe cestode infection in the small intestine. These tapeworms were tightly attached to the intestinal mucosae, resulted in hyperemic thickened intestinal mucosae, variable size irregular well-demarcated multifocal ulcerative regions sometimes covered with necrotic membranes and variable size, diffuse, well-demarcated raised nodular masses were evident in the small intestine...
February 28, 2017: Parasitology International
https://www.readbyqxmd.com/read/28252611/-on-the-problem-of-hiv-infection-in-the-objects-of-forensic-medical-expertise
#19
P L Ivanov, T V Timoshenko, E Yu Zemskova
The authors overview the current state of research in the field of diagnostics and identification of the signs suggesting the presence of HIV in the materials obtained from the human corpses undergoing forensic medical expertise at different stages of their post-mortem changes. Another objective of the present work was to evaluate the risk of HIV infection for the medical personnel involved in the autopsy studies taking into consideration the significance attached in different countries to the problem of anti-infectious protection of the staff of the state institutions of forensic medical expertise...
2017: Sudebno-meditsinskaia Ekspertiza
https://www.readbyqxmd.com/read/28249712/genetically-confirmed-thanatophoric-dysplasia-with-fibroblast-growth-factor-receptor-3-mutation
#20
Minsun Jung, Sung-Hye Park
Thanatophoric dysplasia (TD), the most common lethal skeletal dysplasia, is a de novo genetic disease caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. "Thanatophoric" means "dead bearing" in Greek. Because FGFR3 is the main modulator of bone maturation, typical features of TD include short extremities, curved femur, clover-leaf skull, small narrow chest, and platyspondyly. TD can be classified into two subgroups according to the morphologic findings, with prominent curved femur suggesting type I TD (TD 1) and with marked clover-leaf skull and relatively straight long bones, favoring type II TD (TD 2)...
February 27, 2017: Experimental and Molecular Pathology
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