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Molecular autopsy

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https://www.readbyqxmd.com/read/28704380/molecular-investigation-by-whole-exome-sequencing-revealed-a-high-proportion-of-pathogenic-variants-among-thai-victims-of-sudden-unexpected-death-syndrome
#1
Bhoom Suktitipat, Sakda Sathirareuangchai, Ekkapong Roothumnong, Wanna Thongnoppakhun, Purin Wangkiratikant, Nutchavadee Vorasan, Rungroj Krittayaphong, Manop Pithukpakorn, Warangkna Boonyapisit
INTRODUCTION: Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims. MATERIALS AND METHODS: A detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28700993/the-impact-of-oxidative-stress-factors-on-the-viability-senescence-and-methylation-status-of-olfactory-bulb-derived-glial-cells-isolated-from-human-cadaver-donors
#2
Krzysztof Marycz, Katarzyna Kornicka, Jakub Grzesiak, Krzysztof A Tomaszewski, Dariusz Szarek, Paweł Kopacz
The olfactory bulb (OB) is a unique structure in the central nervous system that retains the ability to create new neuronal connections. Glial cells isolated from the OB have been recently considered as a novel and promising tool to establish an effective therapy for central nervous system injuries. Due to the hindered access to autologous tissue for cell isolation, an allogeneic source of tissues obtained postmortem has been proposed. In this study, we focused on the morphological and molecular characteristics of human OB-derived glial cells isolated postmortem, at different time points after a donor's death...
July 13, 2017: Cells, Tissues, Organs
https://www.readbyqxmd.com/read/28692683/contribution-of-molecular-analysis-to-the-typification-of-the-non-functioning-pituitary-adenomas
#3
Laura Sanchez-Tejada, Ruth Sanchez-Ortiga, Cristina Lamas, Rosa Camara, Pedro Riesgo, Carmen Fajardo, Francisco Ignacio Aranda, Antonio Pico
AIM: The WHO Classification of Tumours of Endocrine Organs considers the inmunohistochemical characterization of pituitary adenomas (PA) as mandatory for patient diagnosis. Recent advances in the knowledge of the molecular patterns of these tumours could complement this classification with gene expression profiling. METHODS: Within the context of the Spanish Molecular Registry of Pituitary Adenomas (REMAH), a multicentre clinical-basic research project, we analysed the molecular phenotype of 142 PAs with complete IHC and clinical information...
2017: PloS One
https://www.readbyqxmd.com/read/28677371/neuropathological-characteristics-of-the-brain-in-two-patients-with-slc19a3-mutations-related-to-the-biotin-thiamine-responsive-basal-ganglia-disease
#4
Maciej Pronicki, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Dariusz Rokicki, Elżbieta Ciara, Joanna Trubicka, Katarzyna Iwanicka-Pronicka, Magdalena Pajdowska, Marek Migdał, Wieslawa A Grajkowska
<i>Biotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine transporter gene. Nowadays, a potentially effective treatment is known, therefore the early diagnosis is mandatory. The aim of the paper was to assess the contribution of neuropathological and magnetic resonance imaging (MRI) studies to a proper diagnosis. We present the brain study of two Polish patients with SLC19A3 mutations, including (1) an infant with an intriguing "walnut" appearance of the brain autopsied many years before the discovery of the SLC19A3 defect, and (2) a one-year-old patient with clinical features of Leigh syndrome...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28641541/-stress-is-80-years-old-from-hans-selye-original-paper-in-1936-to-recent-advances-in-gi-ulceration
#5
Sandor Szabo, Masashi Yoshida, Janos Filakovszky, Gyorgy Juhasz
The first scientific publication on 'general adaption syndrome', or as we know today 'biologic stress' has been published in Nature in 1936 by the 29-year old Hans Selye. His results in that short publication that contained no references or illustrations, were based on experiments in rats that were exposed to severe insults/stressors, but his idea about a 'nonspecific bodily response' originated from his observations of sick patients whom he had seen as a medical students and young clinician. Autopsy of stressed rats revealed three major, grossly visible changes: hyperemia and enlargement of the adrenals, atrophy of the thymus and lymph nodes as well as hemorrhagic gastric erosions/ulcers (the "stress triad")...
June 22, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28631109/increasing-the-reach-of-forensic-genetics-with-massively-parallel-sequencing
#6
REVIEW
Bruce Budowle, Sarah E Schmedes, Frank R Wendt
The field of forensic genetics has made great strides in the analysis of biological evidence related to criminal and civil matters. More so, the discipline has set a standard of performance and quality in the forensic sciences. The advent of massively parallel sequencing will allow the field to expand its capabilities substantially. This review describes the salient features of massively parallel sequencing and how it can impact forensic genetics. The features of this technology offer increased number and types of genetic markers that can be analyzed, higher throughput of samples, and the capability of targeting different organisms, all by one unifying methodology...
June 19, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28621319/foxa2-is-a-sensitive-and-specific-marker-for-small-cell-neuroendocrine-carcinoma-of-the-prostate
#7
Jung Wook Park, John K Lee, Owen N Witte, Jiaoti Huang
The median survival of patients with small cell neuroendocrine carcinoma is significantly shorter than that of patients with classic acinar-type adenocarcinoma. Small cell neuroendocrine carcinoma is traditionally diagnosed based on histologic features because expression of current immunohistochemical markers is inconsistent. This is a challenging diagnosis even for expert pathologists and particularly so for pathologists who do not specialize in prostate cancer. New biomarkers to aid in the diagnosis of small cell neuroendocrine carcinoma are therefore urgently needed...
June 16, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28600177/compound-heterozygous-kcnq1-mutations-a300t-p535t-in-a-child-with-sudden-unexplained-death-insights-into-possible-molecular-mechanisms-based-on-protein-modeling
#8
Erika Antúnez-Argüelles, Arturo Rojo-Domínguez, Ana Leticia Arregui-Mena, Leonor Jacobo-Albavera, Manlio Fabio Márquez, Pedro Iturralde-Torres, María Teresa Villarreal-Molina
Sudden death in a child is a devastating event with important medical implications for surviving relatives. Because it may be the first manifestation of unknown inherited cardiac disease, molecular autopsy can be helpful to determine the cause of death and identify at risk family members. The aim of the study was to perform a molecular autopsy in a seven year-old girl with sudden unexplained death, to find evidence supporting the possible pathogenicity of mutations identified in inherited cardiac disease genes, and to clinically and genetically assess first-degree relatives...
June 6, 2017: Gene
https://www.readbyqxmd.com/read/28570160/acute-respiratory-distress-syndrome-and-diffuse-alveolar-damage-new-insights-on-a-complex-relationship
#9
Pablo Cardinal-Fernández, José A Lorente, Aída Ballén-Barragán, Gustavo Matute-Bello
Acute respiratory distress syndrome (ARDS) is a major clinical problem with high morbidity and mortality. Diffuse alveolar damage (DAD) is considered the histological hallmark for the acute phase of ARDS. DAD is characterized by an acute phase with edema, hyaline membranes, and inflammation, followed by an organizing phase with alveolar septal fibrosis and type II pneumocyte hyperplasia. Given the difficulties in obtaining a biopsy in patients with ARDS, the presence of DAD is not required to make the diagnosis...
June 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28566242/clinical-and-genetic-diagnosis-of-nonischemic-sudden-cardiac-death
#10
Juan Jiménez-Jáimez, Vicente Alcalde Martínez, Miriam Jiménez Fernández, Francisco Bermúdez Jiménez, María Del Mar Rodríguez Vázquez Del Rey, Francesca Perin, José Manuel Oyonarte Ramírez, Silvia López Fernández, Inmaculada de la Torre, Rocío García Orta, Mercedes González Molina, Elisa María Cabrerizo, Beatriz Álvarez Abril, Miguel Álvarez, Rosa Macías Ruiz, Concepción Correa, Luis Tercedor
INTRODUCTION AND OBJECTIVES: Nonischemic sudden cardiac death (SCD) is predominantly caused by cardiomyopathies and channelopathies. There are many diagnostic tests, including some complex techniques. Our aim was to analyze the diagnostic yield of a systematic diagnostic protocol in a specialized unit. METHODS: The study included 56 families with at least 1 index case of SCD (resuscitated or not). Survivors were studied with electrocardiogram, advanced cardiac imaging, exercise testing, familial study, genetic testing and, in some cases, pharmacological testing...
May 26, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28532586/the-role-of-genetics-in-primary-ventricular-fibrillation-inherited-channelopathies-and-cardiomyopathies
#11
Lia Crotti, Maria-Christina Kotta
Sudden cardiac death (SCD) has a strong familial component; however, our understanding of its genetic basis varies significantly according to the underlying causes. When coronary artery disease is involved, the predisposing genetic background is complex and despite some interesting findings it remains largely unknown. Quite different is the case of monogenic structural and non-structural heart diseases, in which a number of disease-causing genes have been established and are being used in clinical practice...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28509313/decreased-expression-of-survivin-2b-in-human-pituitary-adenomas-a-preliminary-study
#12
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
#13
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
PSP is a pathologically defined neurodegenerative tauopathy with a variety of clinical presentations including typical Richardson's syndrome and other variant PSP syndromes. A large body of neuroimaging research has been conducted over the past two decades, with many studies proposing different structural MRI and molecular PET/SPECT biomarkers for PSP. These include measures of brainstem, cortical and striatal atrophy, diffusion weighted and diffusion tensor imaging abnormalities, [18F] fluorodeoxyglucose PET hypometabolism, reductions in striatal dopamine imaging and, most recently, PET imaging with ligands that bind to tau...
July 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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