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https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#1
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102850/japanese-encephalitis-virus-induces-human-neural-stem-progenitor-cell-death-by-elevating-grp78-phb-and-hnrnpc-through-er-stress
#2
Sriparna Mukherjee, Noopur Singh, Nabonita Sengupta, Mahar Fatima, Pankaj Seth, Anita Mahadevan, Susarla Krishna Shankar, Arindam Bhattacharyya, Anirban Basu
Japanese encephalitis virus (JEV), which is a causative agent of sporadic encephalitis, harbours itself inside the neural stem/progenitor cells. It is a well-known fact that JEV infects neural stem/progenitor cells and decreases their proliferation capacity. With mass spectrometry-based quantitative proteomic study, it is possible to reveal the impact of virus on the stem cells at protein level. Our aim was to perceive the stem cell proteomic response upon viral challenge. We performed a two-dimensional gel electrophoresis-based proteomic study of the human neural stem cells (hNS1 cell line) post JEV infection and found that 13 proteins were differentially expressed...
January 19, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28097291/evaluation-of-segmentation-of-the-superficial-and-deep-vascular-layers-of-the-retina-by-optical-coherence-tomography-angiography-instruments-in-normal-eyes
#3
Richard F Spaide, Christine A Curcio
Importance: Correct attribution of vascular features in optical coherence tomography (OCT) angiography depends on accurate segmentation of retinal layers. Objective: To evaluate the segmentation of retinal layers among 3 OCT angiography instruments in the central macula, an area where the superficial and deep vascular plexuses terminate. Design, Setting, and Participants: A retrospective review of a representative OCT angiogram from 1 patient and an evaluation of the vascular pattern in an autopsied eye were conducted at a community retina practice at a university laboratory...
January 12, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28095959/general-aviation-pilots-over-70-years-old
#4
Alpo Vuorio, Saryani Asmayawati, Bruce Budowle, Robin Griffiths, Timo Strandberg, Jaana Kuoppala, Antti Sajantila
BACKGROUND: Currently it is not unusual for general aviation pilots in the United States to continue to fly beyond the age of 70, even into their 80s and 90s. Pilots have regular examinations according to protocols which do not specify special or additional requirements for pilots over 70 yr of age. Additionally, the third class medical reforms passed by the U.S. Senate on 15 July 2016 could potentially result in even less stringent medical certification requirements for general aviation pilots...
February 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28095921/papillary-fibroelastoma-of-the-aortic-valve-presenting-with-chronic-angina-and-acute-stroke-a-case-report
#5
Fan Zhang, Ziqiang Zhu, Gautham K Upadhya, Jiankun Tong, Vlad Gotlieb, Abdullah Khan, Rakesh P Gupta
BACKGROUND: Papillary fibroelastomas are rare, benign cardiac tumors that are often found on cardiac valvular surfaces. Most are incidental discoveries during surgery or autopsy. The clinical presentation of fibroelastoma varies widely, ranging from clinically asymptomatic to severe thromboembolic events. CASE PRESENTATION: We report a case of 65-year-old white man diagnosed with scattered, bilateral acute cerebral hemisphere infarcts with a history of chronic angina...
January 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28094603/lethal-mechanisms-in-gastric-volvulus
#6
Kimberley J Omond, Roger W Byard
A 55-year-old wheelchair-bound woman with severe cerebral palsy was found at autopsy to have marked distention of the stomach due to a volvulus. The stomach was viable, and filled with air and fluid and had pushed the left dome of the diaphragm upwards causing marked compression of the left lung with a mediastinal shift to the right (including the heart). There was no evidence of gastric perforation, ischaemic necrosis or peritonitis. Removal of the organ block revealed marked kyphoscoliosis. Histology confirmed the viability of the stomach and biochemistry showed no dehydration...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28093693/a-simple-post-mortem-room-angiography-method-for-the-investigation-of-traumatic-basal-subarachnoid-hemorrhage
#7
Christopher P Johnson, Mike Murphy, George A Johnson, Stephen M Wills, Jonathan E Medcalf
Identifying the site of vascular bleeding in fatal cases of traumatic basal subarachnoid hemorrhage (TBSAH) is important, but can be very difficult to achieve when there is extensive blood clot in the posterior cranial fossa. Post mortem angiography in these circumstances has been reported previously but with mixed results, and is rarely used in current practice within the United Kingdom. We have developed a simple and effective post mortem angiography method, using fluoroscopy and clear modern contrast medium, suitable for use in the autopsy room...
January 17, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28093680/the-international-diffuse-intrinsic-pontine-glioma-registry-an-infrastructure-to-accelerate-collaborative-research-for-an-orphan-disease
#8
Joshua Baugh, Ute Bartels, James Leach, Blaise Jones, Brooklyn Chaney, Katherine E Warren, Jenavieve Kirkendall, Renee Doughman, Cynthia Hawkins, Lili Miles, Christine Fuller, Tim Hassall, Eric Bouffet, Adam Lane, Darren Hargrave, Jacques Grill, Lindsey M Hoffman, Chris Jones, Alex Towbin, Sharon A Savage, Michelle Monje, Xiao-Nan Li, David S Ziegler, Sophie Veldhuijzen van Zanten, Christof M Kramm, Dannis G van Vuurden, Maryam Fouladi
Diffuse intrinsic pontine glioma (DIPG), a rare, often fatal childhood brain tumor, remains a major therapeutic challenge. In 2012, investigators, funded by the DIPG Collaborative (a philanthropic partnership among 29 private foundations), launched the International DIPG Registry (IDIPGR) to advance understanding of DIPG. Comprised of comprehensive deidentified but linked clinical, imaging, histopathological, and genomic repositories, the IDIPGR uses standardized case report forms for uniform data collection; serial imaging and histopathology are centrally reviewed by IDIPGR neuro-radiologists and neuro-pathologists, respectively...
January 16, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28091982/death-from-pulmonary-embolism-of-cyanoacrylate-glue-following-gastric-varix-endoscopic-injection
#9
Michael Philip Burke, Chris O'Donnell, Yeliena Baber
We present the case of a 25 year old woman with a complex past medical history including Crigler-Najjar syndrome (Type 1) with a liver transplant in 1993 and subsequent development of cirrhosis with portal hypertension in the transplanted liver. The deceased presented to hospital with hematemesis and investigations showed a large gastric varix. The varix was injected with cyanoacrylate glue. Within 30 min of injection the patient became acutely hypoxic. Urgent chest X-ray demonstrated radio opaque glue within the pulmonary arteries...
January 14, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28091758/-deaths-from-propofol-abuse-survey-of-institutes-of-forensic-medicine-in-germany-austria-and-switzerland
#10
C Maier, J Iwunna, M Tsokos, F Mußhoff
Previous references suggesting a high mortality of propofol addiction in medical personnel were mostly based on surveys of the heads of medical departments or case reports; therefore, a questionnaire was sent to 48 forensic medicine departments in Germany, Austria and Switzerland concerning the number of autopsies carried out between 2002-2112 on medical personnel with the suspicion of abuse of propofol or other analgesics. The response rate was 67%. In 16 out of the 32 responding departments 39 deaths (27 males) were observed with previous connections to anesthesiology, intensive care or emergency departments of which 22 were physicians, 13 nurses, 2 other personnel and 2 were unknown...
January 13, 2017: Der Anaesthesist
https://www.readbyqxmd.com/read/28091425/a-10-years-autopsy-based-study-of-maternal-mortality-in-lagos-state-university-teaching-hospital-lagos-nigeria
#11
F A Faduyile, S S Soyemi, F E Emiogun, J O Obafunwa
BACKGROUND: Maternal mortality is the death of a woman while pregnant or within 42 days of termination of pregnancy, irrespective of the duration and the site of the pregnancy. Nigeria is among the six countries that record over 50% of all maternal deaths in the world. There are few papers on autopsy based causes of maternal mortality. This paper is to present the causes of maternal mortality that had postmortem done in our center. MATERIALS AND METHODS: This is a 10-year retrospective study of all maternal deaths seen in our center from January 01, 2005 to December 31, 2014...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28090477/the-economic-cost-of-implementing-maternal-and-neonatal-death-review-in-a-district-of-bangladesh
#12
Animesh Biswas, Abdul Halim, Fazlur Rahman, Charli Eriksson, Koustuv Dalal
INTRODUCTION: Maternal and neonatal death review (MNDR) introduced in Bangladesh and initially piloted in a district during 2010. MNDR is able to capture each of the maternal, neonatal deaths and stillbirths from the community and government facilities (hospitals). This study aimed to estimate the cost required to implement MNDR in a district of Bangladesh during 2010-2012. MATERIALS AND METHODS: MNDR was implemented in Thakurgaon district in 2010 and later gradually extended until 2015...
December 9, 2016: Journal of Public Health Research
https://www.readbyqxmd.com/read/28090290/shared-gene-expression-patterns-in-mesenchymal-progenitors-derived-from-lung-and-epidermis-in-pulmonary-arterial-hypertension-identifying-key-pathways-in-pulmonary-vascular-disease
#13
Christa Gaskill, Shennea Marriott, Sidd Pratap, Swapna Menon, Lora K Hedges, Joshua P Fessel, Jonathan A Kropski, DeWayne Ames, Lisa Wheeler, James E Loyd, Anna R Hemnes, Dennis R Roop, Dwight J Klemm, Eric D Austin, Susan M Majka
Rapid access to lung-derived cells from stable subjects is a major challenge in the pulmonary hypertension field, given the relative contraindication of lung biopsy. In these studies, we sought to demonstrate the importance of evaluating a cell type that actively participates in disease processes, as well as the potential to translate these findings to vascular beds in other nonlung tissues, in this instance perivascular skin mesenchymal cells (MCs). We utilized posttransplant or autopsy lung explant-derived cells (ABCG2-expressing mesenchymal progenitor cells [MPCs], fibroblasts) and skin-derived MCs to test the hypothesis that perivascular ABCG2 MPCs derived from pulmonary arterial hypertension (PAH) patient lung and skin would express a gene profile reflective of ongoing vascular dysfunction...
December 2016: Pulmonary Circulation
https://www.readbyqxmd.com/read/28090043/pheochromocytoma-multisystem-crisis-behaving-like-interstitial-pneumonia-an-autopsy-case
#14
Yohta Nomoto, Kiyoshi Kawano, Naoki Fujisawa, Keiko Yoshida, Tomoko Yamashita, Naoki Makita, Hiroaki Takeshita, Kimio Kamimori, Shiro Yanagi, Minoru Yoshiyama
Pheochromocytoma multisystem crisis is a rare and life-threatening disease that is associated with numerous symptoms and which is also difficult to diagnose. We herein report an autopsy case of a 61-year-old man who died due to pheochromocytoma multisystem crisis. The patient complained of vomiting and breathlessness. Computed tomography showed a shadow-like region with a similar appearance to interstitial pneumonia. The patient was diagnosed with takotsubo cardiomyopathy induced by severe lung disease based on the results of echocardiography and coronary angiography...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28089344/heparan-sulfate-storage-in-the-cardiac-conduction-system-triggers-atrioventricular-block
#15
Rie Kato, Hiroaki Miyahara, Tatsuya Kawano, Atsuko Matsuzuka, Kimiko Noda, Tatsuro Izumi
OBJECTIVE: To elucidate the novel biological functions of heparan sulfate (HS) by clinic-pathologically studying a patient with paroxysmal atrioventricular (AV) block. PATIENT: A long-surviving male patient with Sanfilippo syndrome type A presented with paroxysmal AV block at age 33years. He then survived another 2.5years after the onset of paroxysmal AV block and pacemaker implantation. METHODS AND RESULTS: His cardiac histopathological examination at autopsy showed HS storage in the cardiac conduction system (CCS), especially in the atrioventricular node (AVN)-His bundle branches...
January 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28089298/gunshot-wound-trajectory-analysis-using-forensic-animation-to-establish-relative-positions-of-shooter-and-victim
#16
Aisling A Galligan, Craig Fries, Judy Melinek
Forensic pathologists who autopsy the victims of gun violence are often called upon to answer questions in both criminal and civil proceedings about the relative position of the shooter and the victim. In this case report of an officer-involved shooting incident, the statement of the police officer appeared to be in direct contradiction to the statements of other eyewitnesses, the evidence at the scene, and the final resting position of the decedent's body. Trajectory analysis of two gunshot wound pathways (only one of which was instantaneously incapacitating) was performed to assess the veracity of the officer's statement and forensic animation was used to create a court exhibit...
January 5, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28089245/diagnostic-accuracy-of-postmortem-imaging-vs-autopsy-a-systematic-review
#17
REVIEW
Anders Eriksson, Torfinn Gustafsson, Malin Höistad, Monica Hultcrantz, Stella Jacobson, Ingegerd Mejare, Anders Persson
Background Postmortem imaging has been used for more than a century as a complement to medico-legal autopsies. The technique has also emerged as a possible alternative to compensate for the continuous decline in the number of clinical autopsies. To evaluate the diagnostic accuracy of postmortem imaging for various types of findings, we performed this systematic literature review. Data sources The literature search was performed in the databases PubMed, Embase and Cochrane Library through January 7, 2015. Relevant publications were assessed for risk of bias using the QUADAS tool and were classified as low, moderate or high risk of bias according to pre-defined criteria...
December 7, 2016: European Journal of Radiology
https://www.readbyqxmd.com/read/28088193/invasive-cardiac-lipoma-a-case-report-and-review-of-literature
#18
Jason D'Souza, Rajesh Shah, Aamer Abbass, Jeremy R Burt, Aditya Goud, Chanukya Dahagam
BACKGROUND: Cardiac lipomas are rare benign tumors of the heart. They are usually asymptomatic and are thus most often diagnosed on autopsies. Symptoms, when present, depend upon the location within the heart. Typical locations are the endocardium of the right atrium and the left ventricle. Diagnostic modality of choice is cardiac MRI. Treatment guidelines have not yet been established due to the very low prevalence of these tumors and are thus guided by the patient's symptomatology. CASE PRESENTATION: We describe a case of an invasive cardiac lipoma, wherein the initial symptom of the patient was shortness of breath...
January 14, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28087828/tdp-43-pathology-and-memory-impairment-in-elders-without-pathologic-diagnoses-of-ad-or-ftld
#19
Sukriti Nag, Lei Yu, Robert S Wilson, Er-Yun Chen, David A Bennett, Julie A Schneider
OBJECTIVE: To investigate the association of TAR DNA-binding protein 43 (TDP-43) pathology with memory, other cognitive domains, and dementia in community-dwelling elders without pathologic diagnoses of Alzheimer disease (AD) or frontotemporal lobar degeneration (FTLD). METHODS: Of 1,058 autopsied participants, 343 (32.4%) did not have pathologic diagnoses of AD or FTLD. Diagnosis of dementia was based on clinical evaluation and cognitive performance tests, which were used to create summary measures of global cognition and of 5 cognitive domains...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28087177/lymphocytic-myocarditis-occurs-with-myocardial-infarction-and-coincides-with-increased-inflammation-hemorrhage-and-instability-in-coronary-artery-atherosclerotic-plaques
#20
Linde Woudstra, P Stefan Biesbroek, Reindert W Emmens, Stephane Heymans, Lynda J Juffermans, Albert C van Rossum, Hans W M Niessen, Paul A J Krijnen
OBJECTIVE: Although lymphocytic myocarditis (LM) clinically can mimic myocardial infarction (MI), they are regarded as distinct clinical entities. However, we observed a high prevalence (32%) of recent MI in patients diagnosed post-mortem with LM. To investigate if LM changes coronary atherosclerotic plaque, we analyzed in autopsied hearts the inflammatory infiltrate and stability in coronary atherosclerotic lesions in patients with LM and/or MI. METHODS: The three main coronary arteries were isolated at autopsy of patients with LM, with MI of 3-6h old, with LM and MI of 3-6h old (LM+MI) and controls...
January 7, 2017: International Journal of Cardiology
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