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Molecular autopsy

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https://www.readbyqxmd.com/read/29317593/loneliness-5-years-ante-mortem-is-associated-with-disease-related-differential-gene-expression-in-postmortem-dorsolateral-prefrontal-cortex
#1
Turhan Canli, Lei Yu, Xiaoqing Yu, Hongyu Zhao, Debra Fleischman, Robert S Wilson, Philip L De Jager, David A Bennett
Subjective social isolation, loneliness, is associated with poor mental and physical health, but the underlying molecular mechanisms are poorly understood. Here we analyzed loneliness data collected on average 5 years ante-mortem and RNA gene expression at death in postmortem dorsolateral prefrontal cortex (DLPFC) from 181 participants in the Rush Memory and Aging Project (MAP), a longitudinal, prospective cohort study of common chronic conditions of aging. Our analytic protocol controlled for biographical variables (age, sex, education), psychological and health variables (depressive symptoms, interval between assessment and autopsy, slope of cognitive decline, AD pathology, presence of infarcts) and RNA integrity...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29305779/evidence-of-glucuronidation%C3%A2-of-the-glycation-product-lw-1-tentative-structure-and-implications-for-the-long-term-complications-of-diabetes
#2
David R Sell, Ina Nemet, Zhili Liang, Vincent M Monnier
LW-1 is a collagen-linked blue fluorophore whose skin levels increase with age, diabetes and end-stage renal disease (ESRD), and correlate with the long-term progression of microvascular disease and indices of subclinical cardiovascular disease in type 1 diabetes. The chemical structure of LW-1 is still elusive, but earlier NMR analyses showed it has a lysine residue in an aromatic ring coupled to a sugar molecule reminiscent of advanced glycation end-products (AGEs). We hypothesized and demonstrate here that the unknown sugar is a N-linked glucuronic acid...
January 5, 2018: Glycoconjugate Journal
https://www.readbyqxmd.com/read/29282774/adult-moyamoya-disease-associated-with-abundant-phosphorylated-tau-accumulation-in-the-brainstem-report-of-a-case-with-autopsy-findings
#3
Koichi Okamoto, Isao Naito, Toshio Fukuda, Keiji Suzuki, Masamitsu Takatama
We report the case of a 72-year-old Japanese woman with moyamoya disease (MMD). She experienced her first intracerebral hemorrhage (ICH) at the age of 32 years, and had nine ICHs and/or intraventricular hemorrhages during the following 40 years. Cerebral angiograms and vascular pathologies at autopsy confirmed that the patient suffered from MMD. Macroscopically, there were brown-colored changes in the subarachnoid space, mainly at the base of the brain and around the cerebellar hemispheres. Microscopically, hemosiderin deposits were observed mainly in the old hemorrhagic lesions and on the surface of the brainstem and cerebellum...
December 27, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29276596/applicability-of-long-term-electroencephalography-in-pre-mortem-diagnosis-of-creutzfeldt-jakob-disease-a-case-report
#4
Sanaz Attaripour Isfahani, Michelle Dougherty, Gediminas Peter Gliebus
Creutzfeldt-Jakob disease accounts for more than 90% of all sporadic prion disease cases. The molecular MM2 genotype has been divided into cortical and thalamic subtypes based on structures involved and is characterized clinically by progressive dementia without ataxia or typical electroencephalography changes. Proposed diagnostic criteria for MM2 cortical type sporadic Creutzfeldt-Jakob disease include progressive dementia, cortical hyper-intensity on diffusion-weighted magnetic resonance imaging, increased cerebrospinal fluid 14-3-3 protein level, and the exclusion of other types of dementia...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29274205/arthrogryposis-and-pterygia-as-lethal-end-manifestations-of-genetically-defined-congenital-myopathies
#5
Atif A Ahmed, Priya Skaria, Nicole P Safina, Isabelle Thiffault, Alex Kats, Eugenio Taboada, Sultan Habeebu, Carol Saunders
Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA...
December 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29262299/atpase-n-ethylmaleimide-sensitive-fusion-protein-a-novel-key-player-for-causing-spontaneous-network-excitation-in-human-temporal-lobe-epilepsy
#6
Christina Herold, Hans-Jürgen Bidmon, Heinz W Pannek, Volkmar Hans, Ali Gorji, Erwin-Josef Speckmann, Karl Zilles
The molecular basis for onset, maintenance and propagation of excitation along neuronal networks in epilepsy is still poorly understood. Beside different neurotransmitter receptors that control signal transfer at the synapse, one key regulator involved in all of these processes is the ATPase N-ethylmaleimide-sensitive fusion protein (NSF). Therefore, we analyzed receptor subunits and NSF levels in tissues from the medial temporal gyrus of patients with pharmaco-resistant focal temporal lobe epilepsy resected during epilepsy surgery and autopsy controls...
December 17, 2017: Neuroscience
https://www.readbyqxmd.com/read/29232618/pediatric-medicolegal-autopsy-in-france-a-forensic-histopathological-approach
#7
Clémence Delteil, Lucile Tuchtan, Julia Torrents, Caroline Capuani, Marie-Dominique Piercecchi-Marti
The aim of postmortem medicolegal examination in pediatric death is primarily to establish the circumstances and causes of death and to exclude child abuse. In France, pediatric death is systematically documented by medicolegal or medical autopsy. In case of medicolegal autopsy, the complementary examinations, requested and financed by justice, are rarely limited to a histopathological examination. However in medical autopsies other tools are available to the pathologist as toxicology, biochemistry and molecular biology...
January 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29216801/first-report-of-prenatal-ascertainment-of-a-fetus-with-homozygous-loss-of-the-sox10-gene-and-phenotypic-correlation-by-autopsy-examination
#8
David P LeBel, Daynna J Wolff, Nicholas I Batalis, Tara Ellingham, Natalie Matics, Sanjay C Patwardhan, Iya Y Znoyko, Cynthia A Schandl
The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29198324/developing-chemotherapy-for-diffuse-pontine-intrinsic-gliomas-dipg
#9
REVIEW
Ho-Shin Gwak, Hyeon Jin Park
Prognosis of diffuse intrinsic pontine glioma (DIPG) is poor, with a median survival of 10 months after radiation. At present, chemotherapy has failed to show benefits over radiation. Advances in biotechnology have enabled the use of autopsy specimens for genomic analyses and molecular profiling of DIPG, which are quite different from those of supratentorial high grade glioma. Recently, combined treatments of cytotoxic agents with target inhibitors, based on biopsied tissue, are being examined in on-going trials...
December 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/29197601/ectopic-expression-of-pcsk9-by-smooth-muscle-cells-contributes-to-aortic-dissection
#10
Yasunori Iida, Hiroki Tanaka, Hideto Sano, Yuko Suzuki, Hideyuki Shimizu, Tetsumei Urano
BACKGROUND: Acute aortic dissection (AAD) is a common disease among the elderly. Although several risk factors of AAD have been reported, the molecular mechanism underlying AAD development remains to be elucidated. Proprotein convertase subtilisin/kexin type 9 (PCSK9) increases LDL-cholesterol levels in blood by preventing its clearance. Therefore, PCSK9 inhibition is a promising therapeutic approach to treating cardiovascular diseases. The objective of this study was to elucidate the role of PCSK9 in the pathogenesis of AAD...
November 29, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29186589/detergent-insoluble-proteins-and-inclusion-body-like-structures-immunoreactive-for-prkdc-dna-pk-dna-pkcs-ftl-nnt-and-aifm1-in-the-amygdala-of-cognitively-impaired-elderly-persons
#11
Jozsef Gal, Jing Chen, Yuriko Katsumata, David W Fardo, Wang-Xia Wang, Sergey Artiushin, Douglas Price, Sonya Anderson, Ela Patel, Haining Zhu, Peter T Nelson
Misfolded protein in the amygdala is a neuropathologic feature of Alzheimer disease and many other neurodegenerative disorders. We examined extracts from human amygdala (snap-frozen at autopsy) to investigate whether novel and as yet uncharacterized misfolded proteins would be detectable. Polypeptides from the detergent-insoluble, urea-soluble protein fractions of amygdala were interrogated using liquid chromatography-electrospray ionization-tandem mass spectrometry. Among the detergent-insoluble proteins identified in amygdala of demented subjects but not controls were Tau, TDP-43, Aβ, α-synuclein, and ApoE...
November 24, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29181379/molecular-autopsy-for-sudden-death-in-the-young-is-data-aggregation-the-key
#12
Manuel Rueda, Jennifer L Wagner, Tierney C Phillips, Sarah E Topol, Evan D Muse, Jonathan R Lucas, Glenn N Wagner, Eric J Topol, Ali Torkamani
The Scripps molecular autopsy study seeks to incorporate genetic testing into the postmortem examination of cases of sudden death in the young (<45 years old). Here, we describe the results from the first 2 years of the study, which consisted of whole exome sequencing (WES) of a cohort of 50 cases predominantly from San Diego County. Apart from the individual description of cases, we analyzed the data at the cohort-level, which brought new perspectives on the genetic causes of sudden death. We investigated the advantages and disadvantages of using WES compared to a gene panel for cardiac disease (usually the first genetic test used by medical examiners)...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29179967/-from-tumour-to-tumour-metastasis-of-invasive-ductal-breast-carcinoma-to-chromophobe-renal-cell-carcinoma
#13
Weimar Toro-Zambrano, Áurea Gómez-Durán, Antonio Félix Conde-Martin, Carlos Mayoral-Guisado, Antonio Ruiz-Guerrero, Alejandro Rubio-Fernández
The coexistence of two or more tumours in the same patient is unusual, but even rarer is the metastasis of one tumour to another. Most reports are based on evidence from autopsies; very few refer to surgical specimens. The most common primary tumour is pulmonary carcinoma and most frequent metastatic tumour is renal clear cell carcinoma. We present the case of a 54 year-old female with a past history of infiltrating ductal carcinoma of the breast with metastases in lung, lymph nodes and bone. Three months previously to her referral to us, she had developed a renal mass and underwent nephrectomy...
January 2017: Revista Española de Patología
https://www.readbyqxmd.com/read/29178443/the-past-present-and-future-challenges-in-epilepsy-related-and-sudden-deaths-and-biobanking
#14
Maria Thom, Maura Boldrini, Elizabeth Bundock, Mary N Sheppard, Orrin Devinsky
Awareness and research on epilepsy-related deaths (ERD), in particular Sudden Unexpected Death in Epilepsy (SUDEP), have exponentially increased over the last two decades. Most publications have focused on guidelines that inform clinicians dealing with these deaths, educating patients, potential risk factors and mechanisms. There is a relative paucity of information available for pathologists who conduct these autopsies regarding appropriate post-mortem practice and investigations. As we move from recognizing SUDEP as the most common form of ERD toward in-depth investigations into its causes and prevention, health professionals involved with these autopsies and post-mortem procedure must remain fully informed...
November 27, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29145787/pneumocystosis-in-dogs-meta-analysis-of-43-published-cases-including-clinical-signs-diagnostic-procedures-and-treatment
#15
Christiane Weissenbacher-Lang, Andrea Fuchs-Baumgartinger, Abigail Guija-De-Arespacochaga, Andrea Klang, Herbert Weissenböck, Frank Künzel
We evaluated 43 published cases of dogs with confirmed Pneumocystis infection regarding the value of clinical parameters indicating the presence of the disease as well as tools for the detection of the pathogen. The assessed parameters included clinical signs, laboratory findings, results of thoracic radiography, autopsy, histopathology, methods for the detection of Pneumocystis, as well as medical therapy. Pneumocystosis was diagnosed most often in certain breeds (Cavalier King Charles Spaniel, Miniature Dachshund) with a predisposition for impaired immunity...
November 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29129073/stage-dependence-cell-origin-independence-and-prognostic-capacity-of-serum-glycan-fucosylation-%C3%AE-1-4-branching-%C3%AE-1-6-branching-and-%C3%AE-2-6-sialylation-in-cancer
#16
Shadi Ferdosi, Douglas S Rehder, Paul Maranian, Erik P Castle, Thai H Ho, Harvey I Pass, Daniel W Cramer, Karen S Anderson, Lei Fu, David E C Cole, Tao Le, Xifeng Wu, Chad R Borges
Glycans represent a promising but only marginally accessed source of cancer markers. We previously reported the development of a molecularly bottom-up approach to plasma and serum (P/S) glycomics based on glycan linkage analysis that captures features such as α2-6 sialylation, β1-6 branching, and core fucosylation as single analytical signals. Based on the behavior of P/S glycans established to date, we hypothesized that the alteration of P/S glycans observed in cancer would be independent of the tissue in which the tumor originated yet exhibit stage dependence that varied little between cancers classified on the basis of tumor origin...
November 21, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#17
REVIEW
Susanne A Schneider, Roy N Alcalay
Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3)...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29115304/tumour-heterogeneity-and-resistance-to-cancer-therapies
#18
REVIEW
Ibiayi Dagogo-Jack, Alice T Shaw
Cancer is a dynamic disease. During the course of disease, cancers generally become more heterogeneous. As a result of this heterogeneity, the bulk tumour might include a diverse collection of cells harbouring distinct molecular signatures with differential levels of sensitivity to treatment. This heterogeneity might result in a non-uniform distribution of genetically distinct tumour-cell subpopulations across and within disease sites (spatial heterogeneity) or temporal variations in the molecular makeup of cancer cells (temporal heterogeneity)...
November 8, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/29078160/a-review-of-the-optimisation-of-the-use-of-formalin-fixed-paraffin-embedded-tissue-for-molecular-analysis-in-a-forensic-post-mortem-setting
#19
REVIEW
Kate Megan Reid, Sairita Maistry, Raj Ramesar, Laura Jane Heathfield
Molecular analyses in a post-mortem setting are becoming increasingly common, particularly in cases of sudden unexplained death, with the aim of identifying genetic mutations which may be responsible for causing death. In retrospective investigations, the access to suitable autopsy biological samples may be limited, and often formalin fixed paraffin embedded (FFPE) tissue is the only sample available. The preservation of tissue in formalin is known to damage DNA through crosslinking activity. This results in the extraction of severely fragmented DNA of variable yields, which subsequently reduces the ability to perform downstream molecular analyses...
October 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29070574/cell-adhesion-molecule-1-cadm1-shedding-induces-apoptosis-of-renal-epithelial-cells-and-exacerbates-human-nephropathies
#20
Takashi Kato, Man Hagiyama, Yasutoshi Takashima, Azusa Yoneshige, Akihiko Ito
Chronic kidney disease (CKD) is an important problem throughout the world, associated with the increase of blood urea nitrogen (BUN) and serum creatinine (sCre), and renal tubular injuries. It is crucial to elucidate the molecular mechanisms of renal injuries in order to identify the new therapeutics and early diagnostic methods. We focused on cell adhesion molecule-1 (CADM1) protein. CADM1, its isoform SP4, is expressed in the epithelial cells of various tissues including renal distal tubules, localized on the lateral cell membrane, mediates cell-cell adhesion via trans-homophilic binding, and interacts with various proteins...
October 25, 2017: American Journal of Physiology. Renal Physiology
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