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Molecular autopsy

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https://www.readbyqxmd.com/read/28509313/decreased-expression-of-survivin-2b-in-human-pituitary-adenomas-a-preliminary-study
#1
Joanna Waligorska-Stachura, Nadia Sawicka-Gutaj, Maciej Zabel, Wlodzimierz Liebert, Pawel Gut, Agata Czarnywojtek, Marek Ruchala
INTRODUCTION: We aimed to investigate survivin and its splice variants DEx3 and 2B expressions in pituitary adenomas and normal pituitary glands using immunohistochemistry. MATERIAL AND METHODS: The study group consisted of eight pituitary adenomas: five of non-functional tumors, two of GH-secreting tumors, and one PRL-secreting tumor. Eight healthy pituitary tissue samples obtained after autopsy served as controls. RESULTS: Survivin expression was found in 87...
2017: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/28500751/radiological-biomarkers-for-diagnosis-in-psp-where-are-we-and-where-do-we-need-to-be
#2
REVIEW
Jennifer L Whitwell, Günter U Höglinger, Angelo Antonini, Yvette Bordelon, Adam L Boxer, Carlo Colosimo, Thilo van Eimeren, Lawrence I Golbe, Jan Kassubek, Carolin Kurz, Irene Litvan, Alexander Pantelyat, Gil Rabinovici, Gesine Respondek, Axel Rominger, James B Rowe, Maria Stamelou, Keith A Josephs
BACKGROUND: PSP is a pathologically defined neurodegenerative tauopathy with a variety of clinical presentations including typical Richardson's syndrome and other variant PSP syndromes. Our aim was to critically evaluate the degree to which structural, functional and molecular neuroimaging metrics fulfill criteria for diagnostic biomarkers of PSP. METHODS: We queried the PubMed, Cochrane, Medline, and PSYCInfo databases for original research articles published in English using postmortem diagnosis or NINDS-SPSP criteria as the diagnostic standard from 1996-2016...
May 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28499219/oxidant-and-anti-oxidant-status-in-common-brain-tumors-correlation-to-tp53-and-human-biliverdin-reductase
#3
Pinar Atukeren, Sena Oner, Oguz Baran, Rahsan Kemerdere, Bulent Eren, Ufuk Cakatay, Taner Tanriverdi
OBJECTIVE: To assess oxidant and antioxidant status in patients with common brain tumors; namely meningiomas, low-grade gliomas (LGG) and high-grade gliomas (HGG) and to compare with normal brain tissues. PATIENTS AND METHODS: Almost nine biomarkers were measured in 59 brain tumors obtained during surgery and 15 normal brain tissues that were collected during autopsy. Results were compared between two groups. RESULTS: In general, protein oxidation and lipid peroxidation increased while antioxidant capacity decreased significantly in tumors compared to the controls (p<0...
May 3, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28497716/polyglucosan-bodies-in-placental-extravillious-trophoblast-for-the-diagnosis-of-fatal-perinatal-neuromuscular-type-glycogen-storage-disease-type-iv
#4
Weiming Yu, Marie-Anne Brundler, James R Wright
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28470179/autoimmune-channelopathies-as-a-novel-mechanism-in-cardiac-arrhythmias
#5
REVIEW
Pietro Enea Lazzerini, Pier Leopoldo Capecchi, Franco Laghi-Pasini, Mohamed Boutjdir
Cardiac arrhythmias confer a considerable burden of morbidity and mortality in industrialized countries. Although coronary artery disease and heart failure are the prevalent causes of cardiac arrest, in 5-15% of patients, structural abnormalities at autopsy are absent. In a proportion of these patients, mutations in genes encoding cardiac ion channels are documented (inherited channelopathies), but, to date, the molecular autopsy is negative in nearly 70% of patients. Emerging evidence indicates that autoimmunity is involved in the pathogenesis of cardiac arrhythmias...
May 4, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28469501/an-autopsy-case-of-sudden-unexpected-death-of-a-young-adult-in-a-hot-bath-molecular-analysis-using-next-generation-dna-sequencing
#6
Yukiko Hata, Koshi Kinoshita, Naoki Nishida
We report a case of sudden unexpected death of a young woman who was found in a bathtub of hot water. The autopsy concluded that all possible causes of sudden loss of consciousness, except cardiac origin, could be excluded. However, the heart did not show any obvious pathological changes. We used next-generation DNA sequencing (NGS) to examine 73 genes and detected 3 rare, potentially pathogenic variants with minor allele frequencies ⩽1.0%. The pathogenicity of these variants was evaluated using 8 in silico predictive algorithms, and SCN5A_p...
2017: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/28456839/hypothermia-provokes-hemorrhaging-in-various-core-muscle-groups-how-many-of-them-could-we-have-missed
#7
Lenka Zátopková, Petr Hejna, Cristian Palmiere, Grzegorz Teresiński, Martin Janík
The postmortem diagnosis of hypothermia remains problematic even in the era of molecular and digital diagnostic advances. Gross hemorrhages in iliopsoas muscles have been regarded as a helpful diagnostic sign in hypothermia fatalities; nevertheless, they have received marginal attention since their original description. The present study attempts to fill that void by examining occurrence, localization, and diagnostic significance of the bleeding into the core muscles as evidence of death due to hypothermia in a series comprising 51 consecutive hypothermia autopsy cases...
April 29, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28450386/update-on-congenital-heart-disease-and-sudden-infant-perinatal-death-from-history-to-future-trends
#8
REVIEW
Giulia Ottaviani, L Maximilian Buja
During the 20th century, expert pathologists contributed an in-depth characterisation of the anatomical pathology and associated pathophysiology of congenital heart disease (CHD). Starting in the 1970s, the reported CHD birth prevalence has been increasing, owing to advances in diagnostic methods. Over the years, surgical treatments have been associated with an enormous reduction of CHD mortality. Advances also have been made in understanding the developmental biology and molecular pathogenesis of CHD. In developed countries, sudden infant death syndrome (SIDS) is the most frequent form of death during the first year of life, with a death rate of 0...
April 27, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28449774/utility-of-post-mortem-genetic-testing-in-cases-of-sudden-arrhythmic-death-syndrome
#9
Najim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, Efstathios Papatheodorou, James S Ware, Michael Papadakis, Rafik Tadros, Della Cole, Jonathan R Skinner, Jackie Crawford, Donald R Love, Chee J Pua, Bee Y Soh, Jaydutt D Bhalshankar, Risha Govind, Jacob Tfelt-Hansen, Bo G Winkel, Christian van der Werf, Yanushi D Wijeyeratne, Greg Mellor, Jan Till, Marta C Cohen, Maria Tome-Esteban, Sanjay Sharma, Arthur A M Wilde, Stuart A Cook, Connie R Bezzina, Mary N Sheppard, Elijah R Behr
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes...
May 2, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28434940/prospective-isolation-and-comparison-of-human-germinal-matrix-and%C3%A2-glioblastoma-egfr-populations-with-stem-cell-properties
#10
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...
May 9, 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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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