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Molecular autopsy

Luca Fortunato, Sanghyun Jeong, Yiran Wang, Ali R Behzad, TorOve Leiknes
Fouling in membrane bioreactors (MBR) is acknowledged to be complex and unclear. An integrated characterization methodology was employed in this study to understand the fouling on a gravity-driven submerged MBR (GD-SMBR). It involved the use of different analytical tools, including optical coherence tomography (OCT), liquid chromatography with organic carbon detection (LC-OCD), total organic carbon (TOC), flow cytometer (FCM), adenosine triphosphate analysis (ATP) and scanning electron microscopy (SEM). The three-dimensional (3D) biomass morphology was acquired in a real-time through non-destructive and in situ OCT scanning of 75% of the total membrane surface directly in the tank...
October 1, 2016: Bioresource Technology
Ali Torkamani, Evan D Muse, Emily G Spencer, Manuel Rueda, Glenn N Wagner, Jonathan R Lucas, Eric J Topol
No abstract text is available yet for this article.
October 11, 2016: JAMA: the Journal of the American Medical Association
B S Van Deventer, S H Rossouw, L Du Toit-Prinsloo
BACKGROUND:  Sudden and unexpected death is well known to occur in infants, and although sudden deaths are less frequent after the first birthday, they still account for a significant proportion of childhood deaths. In 2009, 1.9% of the total deaths in the USA were childhood deaths. In South Africa (SA) this proportion was much higher at 11.85%. According to the law, sudden and unexpected deaths are generally investigated as unnatural deaths. Establishing an exact underlying anatomical cause of death will depend on available resources and can be difficult in a substantial proportion of cases...
September 6, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Liyong Zhang, David J Tester, Di Lang, Yili Chen, Jinxiang Zheng, Rui Gao, Robert F Corliss, Shuangbo Tang, John W Kyle, Chao Liu, Michael J Ackerman, Jonathan C Makielski, Jianding Cheng
OBJECTIVE: To look for previously unrecognized cardiac structural abnormalities and address the genetic cause for sudden unexplained nocturnal death syndrome (SUNDS). METHODS: Data for 148 SUNDS victims and 444 controls (matched 1:3 on sex, race, and age of death within 1 year) were collected from Sun Yat-sen University from January 1, 1998, to December 31, 2014, to search morphological changes. An additional 17 patients with Brugada syndrome (BrS) collected from January 1, 2006, to December 31, 2014, served as a comparative disease cohort...
October 1, 2016: Mayo Clinic Proceedings
Alina Sultanova, Maksims Cistjakovs, Sabine Gravelsina, Svetlana Chapenko, Silvija Roga, Egils Cunskis, Zaiga Nora-Krukle, Valerija Groma, Ildze Ventina, Modra Murovska
OBJECTIVES: Viral infections have been frequently cited as important environmental factors implicated in the onset of autoimmune thyroiditis (AIT). The aim of this study was to determine the involvement of HHV-6 infection in the development of autoimmune thyroiditis. METHODS: This study included 45 patients (42 female and 3 male; median age 47.00 IQR: 38.50-57.00) with histologically, laboratory and clinically confirmed autoimmune thyroiditis, as well as 30 autopsied subjects (26 women and 4 men; median age 58...
September 29, 2016: Clinical Microbiology and Infection
Yanushi D Wijeyeratne, Elijah R Behr
Approximately 4% of sudden cardiac deaths are unexplained [the sudden arrhythmic death syndrome (SADS)], and up to 6-10% of survivors of cardiac arrest do not have an identifiable cardiac abnormality after comprehensive clinical evaluation [idiopathic ventricular fibrillation (IVF)]. Genetic testing may be able to play a role in diagnostics and can be targeted to an underlying phenotype present in family members following clinical evaluation. Alternatively, post-mortem genetic testing (the "molecular autopsy") may diagnose the underlying cause if a clearly pathogenic rare variant is found...
August 31, 2016: Trends in Cardiovascular Medicine
Vadim Z Lankin, Alla K Tikhaze
We have provided an overview, based on the literature and our data. In accordance with the theory of D. Harman free radical processes cause damages that can accumulate and contribute to aging of the organism. Atherosclerosis and diabetes are developing for a long time so they are manifested predominantly in old age. We found an increase in the level of free radical peroxidation products and decrease in the activity of antioxidant enzymes in the tissues of animals with experimental atherosclerosis. Similar changes were found by in the blood of patients with atherosclerosis and aortic autopsy material with atherosclerotic lesions...
September 26, 2016: Current Aging Science
Maria Manczak, Ramesh Kandimalla, David Fry, Hiromi Sesaki, P Hemachandra Reddy
The purpose of our study was to understand the protective effects of reduced expression of dynamin-related protein (Drp1) against amyloid beta (Aβ) induced mitochondrial and synaptic toxicities in Alzheimer's disease (AD) progression and pathogenesis. Our recent molecular and biochemical studies revealed that impaired mitochondrial dynamics - increased mitochondrial fragmentation and decreased fusion - in neurons from autopsy brains of AD patients and from transgenic AD mice and neurons expressing Aβ, suggesting that Aβ causes mitochondrial fragmentation in AD...
September 27, 2016: Human Molecular Genetics
Yu Du, Hong-Nian Jin, Rui Zhao, Dong Zhao, Ye Xue, Bao-Li Zhu, Da-Wei Guan, Xiao-Li Xie, Qi Wang
Pulmonary edema is a common finding in fatal methamphetamine intoxication. However, the underlying mechanism remains poorly understood. This study investigated the molecular pathology of alveolar damage involving pulmonary edema in forensic autopsy cases. Seven candidate reference genes (RPL13A, YWHAZ, GUSB, SDHA, GAPDH, B2M, and ACTB) were evaluated in the lung by the geNorm module in qBase(plus) software. RPL13A, YWHAZ, and GUSB were identified as the most stable reference genes. Using these validated reference genes, intrapulmonary mRNA expressions of matrix metalloproteinases (MMPs), intercellular adhesion molecule-1 (ICAM-1), claudin-5 (CLDN-5), and aquaporins (AQPs) were examined...
September 21, 2016: Journal of Forensic Sciences
Liliang Li, Yuhua Li, Junyi Lin, Jieqing Jiang, Meng He, Daming Sun, Ziqin Zhao, Yiwen Shen, Aimin Xue
BACKGROUND It is not uncommon that only mild coronary artery stenosis is grossly revealed after a system autopsy. While coronary artery spasm (CAS) is the suspected mechanism of these deaths, no specific biomarker has been identified to suggest antemortem CAS. MATERIAL AND METHODS To evaluate the potential of using phosphorylated myosin light chain 2 (p-MLC2) as a diagnostic marker of antemortem CAS, human vascular smooth muscle cells (VSMCs) were cultured and treated with common vasoconstrictors, including prostaglandins F2α (PGF2α), acetylcholine (ACh), and 5-hydroxy tryptamine (5-HT)...
September 19, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Berje Shammassian, Sunil Manjila, Efrem Cox, Kaine Onwuzulike, Dehua Wang, Mark Rodgers, Duncan Stearns, Warren R Selman
Intracranial ectopic salivary gland rests within dural-based lesions are reported very infrequently in the literature. The authors report the unique case of a 12-year-old boy with a cerebellar medulloblastoma positive for sonic hedgehog (Shh) that contained intraaxial mature ectopic salivary gland rests. The patient underwent clinical and radiological monitoring postoperatively, until he died of disseminated disease. An autopsy showed no evidence of salivary glands within disseminated lesions. The intraaxial presence of salivary gland rests and concomitant Shh positivity of the described tumor point to a disorder in differentiation as opposed to ectopic developmental foci, which are uniformly dural based in the described literature...
September 16, 2016: Journal of Neurosurgery. Pediatrics
Hiroyuki Honda, Kosuke Matsuzono, Soichiro Fushimi, Kota Sato, Satoshi O Suzuki, Koji Abe, Toru Iwaki
Prion protein (PrP) has 2 glycosylated sites and a glycosylphosphatidylinositol (GPI) anchor on the C-terminal. Reports on genetic prion disease with GPI anchorless PrP are very limited. In this study, we characterized the molecular alterations of mutated PrP in a 37-year-old female autopsy case with a recently identified PRNP mutation involving a 2-bp deletion in codon 178 that results in a premature stop codon mutation in codon 203. Postmortem examination revealed numerous irregularly shaped coarse PrP deposits and multicentric plaques in the brain that were mainly comprised of C-terminal deleted abnormal PrP primarily derived from the mutant allele...
September 15, 2016: Journal of Neuropathology and Experimental Neurology
Rajeev B Ahuja, Priya Bansal, Gaurav S Pradhan, Manju Subberwal
INTRODUCTION: Morbidity and mortality from venous thrombo-embolism (VTE) remains a significant problem for trauma and medical patients and there are established guidelines for prophylaxis in these patients. However, the efficacy and safety of VTE prophylaxis in thermally injured patients continue to be elusive as it has never been studied in a prospective, randomized fashion. Selective use of VTE prophylaxis, for high risk patients, is practiced by some burn units even if objective evidence is lacking for majority of risk factors enunciated in burn patients...
September 12, 2016: Burns: Journal of the International Society for Burn Injuries
Masaki Takao, Nobuyoshi Hirose, Yasumichi Arai, Ban Mihara, Masaru Mimura
Supercentenarians (aged 110 years old or more) are extremely rare in the world population (the number of living supercentenarians is estimated as 47 in the world), and details about their neuropathological information are limited. Based on previous studies, centenarians (aged 100-109 years old) exhibit several types of neuropathological changes, such as Alzheimer's disease and Lewy body disease pathology, primary age-related tauopathy, TDP-43 pathology, and hippocampal sclerosis. In the present study, we provide results from neuropathological analyses of four supercentenarian autopsy cases using conventional and immunohistochemical analysis for neurodegenerative disorders...
2016: Acta Neuropathologica Communications
Antonio Osculati, Silvia Damiana Visonà, Francesco Ventura, Francesca Castelli, Luisa Andrello
BACKGROUND: Generally, rheumatic heart disease is, today, sporadic in developed countries, even though it continues to be a major health hazard in the developing ones. It is also a very rare cause of sudden unexpected death. We report a case of a 15-year-old boy who suddenly died at home. Since 3 days he had presented fever and chest pain. The family physician had diagnosed bronchitis and treated the boy with amoxicillin. METHODS: Seven hours after death, a forensic autopsy were performed ...
August 2016: Medicine (Baltimore)
Cira R T di Gioia, Carla Giordano, Bruna Cerbelli, Annalinda Pisano, Elena Perli, Enrico De Dominicis, Barbara Poscolieri, Vincenzo Palmieri, Costantino Ciallella, Paolo Zeppilli, Giulia d'Amati
Nonischemic Left Ventricular Scar (NLVS) is a pattern of myocardial injury characterized by midventricular and/or subepicardial gadolinium hyper enhancement at cardiac magnetic resonance, in absence of significant coronary artery disease. We aimed to evaluate the prevalence of NLVS in juvenile sudden cardiac death and to ascertain its aetiology at autopsy. We examined 281 consecutive cases of sudden death of subjects aged 1 to 35 years of age. NLVS was defined as a thin, grey rim of subepicardial and/or midmyocardial scar in the left ventricular free wall and/or the septum, in absence of significant stenosis of coronary arteries...
August 25, 2016: Human Pathology
Ravi Rajmohan, P Hemachandra Reddy
Amyloid-beta (Aβ) and hyperphosphorylated tau are hallmark lesions of Alzheimer's disease (AD). However, the loss of synapses and dysfunctions of neurotransmission are more directly tied to disease severity. The role of these lesions in the pathoetiological progression of the disease remains contested. Biochemical, cellular, molecular, and pathological studies provided several lines of evidence and improved our understanding of how Aβ and hyperphosphorylated tau accumulation may directly harm synapses and alter neurotransmission...
August 26, 2016: Journal of Alzheimer's Disease: JAD
Catherine A Matthews, Andrew Eschenroeder, Gopal Badlani, Robert Evans, Stephen J Walker
AIMS: Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood disease with no absolute diagnostic marker. A molecular-based tool (biomarker) for IC/BPS diagnosis would have immediate clinical utility. We have generated a bank of bladder biopsy tissue from IC/BPS patients and require a control group for comparative gene expression studies. The objective of this pilot study was to investigate the feasibility of cadaveric bladder specimens as a viable source of control tissue...
August 19, 2016: Neurourology and Urodynamics
Tomáš Jůza, Alena Jůzová, Tatiana Gajdošová
Echinococcosis (hydatidosis) is a rare severe tissue parasitosis. In the Czech Republic it is caused by two species of tapeworm: Echinococcus granulosus or Echinococcus multilocularis. The species differ in both their usual hosts during their life cycle as well as in the typical form of lesions in infested tissues. In both cases the liver is the most common primary infested organ.We describe an autopsy case of a massive hepatic parasitic lesion in an 81 year-old man. There were metastatic parasitic cysts in both lungs and the hepatic mass spread per continuitatem in the right adrenal gland...
2016: Ceskoslovenská Patologie
Nynke Hofman, Arthur A M Wilde
Ventricular arrhythmias without structural heart disease are responsible for ∼35% of patients who have sudden cardiac death before the age of 40 years. Molecular autopsy and/or cardiological investigation of nearby family members often reveals the diagnosis and genetic testing can be helpful in family screening and risk stratification in disease carriers. Extended gene panels can be screened in a short period of time at low cost. A multidisciplinary team of (genetically) specialized clinicians is necessary to judge all the available details and to decide on the significance of the variant and further strategies...
September 2016: Cardiac Electrophysiology Clinics
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