keyword
MENU ▼
Read by QxMD icon Read
search

Autopsy

keyword
https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#1
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749249/an-autopsy-verified-case-of-steroid-responsive-encephalopathy-with-convulsion-and-a-false-positive-result-from-the-real-time-quaking-induced-conversion-assay
#2
Yuichi Hayashi, Yasushi Iwasaki, Nobuaki Yoshikura, Takahiko Asano, Maya Mimuro, Akio Kimura, Katsuya Satoh, Tetsuyuki Kitamoto, Mari Yoshida, Takashi Inuzuka
We report an autopsy-verified case of steroid-responsive encephalopathy with convulsion and a false-positive result from the real-time quaking-induced conversion (RT-QUIC) assay. A 61-year-old Japanese man presented with acute onset of consciousness disturbance, and convulsions, but without a past medical or family history of progressive dementia, epilepsy, or prion disease. Brain diffusion and fluid-attenuated inverted recovery MR images revealed edematous cortical hyper-intensity, which diminished after the acute phase...
July 27, 2017: Prion
https://www.readbyqxmd.com/read/28748650/autopsy-findings-in-epg5-related-vici-syndrome-with-antenatal-onset
#3
Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel, Heinz Jungbluth
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748482/morphological-analysis-of-biocompatibility-of-autologous-bone-marrow-mononuclear-cells-with-synthetic-polyethylene-terephthalate-scaffold
#4
I V Gilevich, I S Polyakov, V A Porkhanov, V P Chekhonin
We studied the properties of a tissue-engineered trachea consisting of a polyethylene terephthalate scaffold populated with autologous bone marrow mononuclear cells. The tissue-engineered constructs were obtained before surgery, during the postoperative period, and during autopsy. Cytomorphological analysis during the postoperative period showed the presence of mesenchymal stem cells on the inner surface of the implant on day 3 after surgery and cells of the respiratory epithelium on day 10-14. In autopsy samples, single epithelial cells, endothelial cells, and basal cells were found...
July 26, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28748016/-hepatic-hematoma-in-neonates-about-a-case
#5
Hanae Harchaoui, Bousayna Iraqi, Houria Knouni, Youness Taboz, Hasnae Benkirane, Hassan Aguenaou, Amina Barkat
Hepatic hematoma is a condition of unrecognized origin which can become extremely serious and whose diagnosis is often made during perinatal autopsy. It is often characterised by nonspecific clinical manifestations and a long delay before biological presentation.The diagnosis is essentially based on ultrasound and treatment is often conservative.We here report a case of a full-term newborn with asymptomatic hepatic haematoma due to obstetrical trauma.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28747015/nardilysin-is-a-promising-biomarker-for-the-early-diagnosis-of-acute-coronary-syndrome
#6
Po-Min Chen, Mikiko Ohno, Takaki Hiwasa, Kiyoto Nishi, Sayaka Saijo, Jiro Sakamoto, Yusuke Morita, Shintaro Matsuda, Shin Watanabe, Yasuhide Kuwabara, Koh Ono, Masao Imai, Katsumi Inoue, Tatsuya Murai, Tsukasa Inada, Masaru Tanaka, Toru Kita, Takeshi Kimura, Eiichiro Nishi
BACKGROUND: Biomarkers for detection of transient myocardial ischemia in patients with unstable angina (UA) or for very early diagnosis of acute myocardial infarction (AMI) are not currently available. METHODS AND RESULTS: We performed two sequential screenings of autoantibodies elevated shortly after the onset of acute coronary syndrome (ACS), and focused on metalloendopeptidase nardilysin (NRDC) among 19 identified candidate antigens. In a retrospective analysis among 93 ACS and 117 non-ACS patients, the serum level of NRDC was significantly increased in patients with ACS compared with that in patients with non-ACS (2073...
September 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28746322/approximation-of-height-of-an-individual-using-somatometry-of-human-male-skull
#7
J Acharya, B S K Shetty, R Shrestha, T Kanchan
INTRODUCTION: Numerous population specific studies conducted on skeletal remains have aimed to standardize the identification process. Known for ethnic and sexual variations, skull bone can also assist the identification process by estimating stature of the individual. The present study focuses on estimation of stature from skull bone using uni-variate and multi-variate regression models in south Indian population. METHODS: Stature and maximum cranial length, maximum cranial breadth, bi-pterion breadth, parietal cord and upper facial breadth were measured in wet skulls of 113 males, autopsied at Government Hospital of Kudla, Karnataka...
April 2017: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/28745206/sudden-unexplained-cardiac-deaths-in-young-adults-a-call-for-multidisciplinary-approach
#8
Bartosz Hudzik, Michal Hudzik, Andrzej Lekston, Mariusz Gasior
The investigation of death in young (<35 years), previously fit individuals, calls for a detailed autopsy with emphasis placed upon the examination of the heart. In most instances, the cause of cardiac death can be identified during autopsy. However, a large percentage of sudden deaths remain unexplained even after comprehensive medicolegal investigation, including autopsy, and are labelled as autopsy-negative sudden unexplained cardiac death (SUD). Still, when you look to the law, an autopsy, a much needed truth-finding-instrument, usually is not mandatory and is left up to the discretion of various medical or legal authorities, which when making a decision, balance various, often conflicting interests of the state and society on the one hand and of the deceased and his family on the other...
July 26, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28745014/the-hidden-burden-of-influenza-a-review-of-the-extra-pulmonary-complications-of-influenza-infection
#9
REVIEW
Subhashini A Sellers, Robert Hagan, Frederick Hayden, William A Fischer
Severe influenza infection represents a leading cause of global morbidity and mortality. Although influenza is primarily considered a viral infection that results in pathology limited to the respiratory system, clinical reports suggest that influenza infection is frequently associated with a number of clinical syndromes that involve organ systems outside the respiratory tract. A comprehensive Medline literature review of articles pertaining to extra-pulmonary complications of influenza infection, using organ-specific search terms, yielded 234 articles including case reports, epidemiologic investigations, and autopsy studies that were reviewed to determine the clinical involvement of other organs...
July 26, 2017: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/28744070/mri-features-in-dengue-encephalitis-a-case-series-in-south-indian-tertiary-care-hospital
#10
Brijesh K Soni, Debasheesh S R Das, R A George, R Aggarwal, R Sivasankar
Dengue virus, a RNA virus of family Flaviviradae is considered non-neurotropic. Increasing studies and case reports reveal neurological manifestations of dengue virus. In our case series, we have evaluated magnetic resonance imaging (MRI) findings of 3 patients with dengue fever diagnosed by positive dengue NS1 antigen with neurological symptoms, which revealed nonspecific imaging features of dengue encephalitis in two cases and dengue meningoencephalitis in one case. Autopsy findings are also correlated in 2 patients who succumbed to their disease...
April 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28743702/progressive-dispersion-of-azole-resistance-in-aspergillus-fumigatus-fatal-invasive-aspergillosis-in-a-patient-with-acute-myeloid-leukemia-infected-with-an-a-fumigatus-strain-with-a-cyp51a-tr46-y121f-m172i-t289a-allele
#11
Susann Rößler, Oliver Bader, Friedrich Stölzel, Ulrich Sommer, Birgit Spiess, Stephan Geibel, Dieter Buchheidt, Uwe Groß, Gustavo Baretton, Enno Jacobs, Luis Ostrosky-Zeichner
Patients with hematologic malignancies as well as allogeneic hematopoietic stem cell transplantation (HSCT) patients are at high risk for invasive aspergillosis. Here, we report a culture- and autopsy-proven fatal invasive aspergillosis in an allogeneic HSTC patient which he developed despite posaconazole prophylaxis. The agent was determined to be an azole-resistant Aspergillus fumigatus strain bearing the cyp51A mutation combination TR46 Y121F M172I T289A. At increasing frequency, the azole resistance of A...
August 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28743126/frontal-cortex-and-hippocampal-%C3%AE-secretase-activating-protein-levels-in-prodromal-alzheimer-disease
#12
Sylvia E Perez, Muhammad Nadeem, Michael H Malek-Ahmadi, Bin He, Elliott J Mufson
BACKGROUND: β-Amyloid (Aβ) is the product of concerted cleavage of the amyloid precursor protein (APP) by β- and γ-secretases. However, the molecular mechanisms that regulate this process are not well understood. Recently, evidence was reported that γ-secretase activating protein (GSAP, 16 kDa), derived from a larger precursor protein (98 kDa), plays a role in Aβ metabolism through a mechanism involving its interaction with both γ-secretase and APP. However, a detailed evaluation of GSAP protein levels and their association with clinical and neuropathological variables are lacking during the clinical progression of Alzheimer disease (AD)...
July 26, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28742269/unilateral-lung-agenesis-aplasia-or-hypoplasia-which-one-is-it
#13
Khristopher M Nguyen, Snehal Vala, Sarah Milla, Lokesh Guglani
Congenital lung malformations can lead to symptoms in the immediate newborn period or early childhood, but may also be diagnosed incidentally on routine imaging or autopsy, especially if the individual has remained asymptomatic. We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis.
July 25, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28741114/-fetal-autopsies-relic-or-still-a%C3%A2-gold-standard
#14
J Andruszkow, W Weichert, T Braunschweig, R Knüchel-Clarke, F Erlmeier
BACKGROUND: Fetal autopsy rates are decreasing in Western countries although post-mortem examinations render important information for the parents concerning the cause of abortion and risk of recurrence in future pregnancies. OBJECTIVE: The intention of the presented study was to analyze the development of fetal autopsies in Germany during the last decade and to review accessible information obtained by fetal autopsy. MATERIAL AND METHODS: Reports of fetal autopsies conducted in two German university Institutes of pathology between 2005 and 2014 were evaluated retrospectively...
July 24, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28741057/the-role-of-angiography-in-the-congruence-of-cardiovascular-measurements-between-autopsy-and-postmortem-imaging
#15
Renaud Troxler, Costin Minoiu, Paul Vaucher, Katarzyna Michaud, Francesco Doenz, Kewin Ducrot, Silke Grabherr
INTRODUCTION: Postmortem CT angiography is the method of choice for the postmortem imaging investigations of the cardiovascular (CV) system. However, autopsy still remains the gold standard for CV measurement. Nevertheless, there are not any studies on CV measurements on the multi-phase postmortem angiography (MPMCTA) which includes comparisons with autopsy. Therefore, the aim of this study is to compare CV measurements between the native CT scan and the three phases of the MPMCTA to find out which of these modalities correlate the best with autopsy measurements...
July 24, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28740836/mycotic-aneurysm-with-aortoduodenal-fistula
#16
REVIEW
Bruno Kusznir Vitturi, Amanda Frias, Raphael Sementilli, Marcelo de Castro Jorge Racy, Roberto Augusto Caffaro, Geanete Pozzan
Firstly described in the 19th century by Sir William Osler, the mycotic aneurysm (MA) is a rare entity characterized by an abnormal arterial dilation, which is potentially fatal, and is associated with the infection of the vascular wall. Elderly patients are mostly involved, especially when risk factors like chronic diseases, immunosuppression, neoplasia, and arterial manipulation are associated. The authors report the case of a young male patient diagnosed with an aortic aneurysm of infectious origin in the presence of repeated negative blood cultures...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740835/severe-pulmonary-hypertension-due-to-combined-pulmonary-fibrosis-and-emphysema-another-cause-of-death-among-smokers
#17
REVIEW
André Carramenha de Góes Hirano, Eduardo Pelegrineti Targueta, Fernando Peixoto Ferraz de Campos, João Augusto Dos Santos Martines, Dafne Andrade, Silvana Maria Lovisolo, Aloisio Felipe-Silva
In 2005, the combined pulmonary fibrosis and emphysema (CPFE) was first defined as a distinct entity, which comprised centrilobular or paraseptal emphysema in the upper pulmonary lobes, and fibrosis in the lower lobes accompanied by reduced diffused capacity of the lungs for carbon monoxide (DLCO). Recently, the fibrosis associated with the connective tissue disease was also included in the diagnosis of CPFE, although the exposure to tobacco, coal, welding, agrochemical compounds, and tire manufacturing are the most frequent causative agents...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28739833/risk-factors-of-sudden-death-from-subarachnoid-hemorrhage
#18
Joni Valdemar Lindbohm, Jaakko Kaprio, Pekka Jousilahti, Veikko Salomaa, Miikka Korja
BACKGROUND AND PURPOSE: One in every 4 subarachnoid hemorrhage (SAH) patients dies suddenly outside hospital, but most SAH risk factor studies focus on hospitalized patients. We studied the differences in risk factors between hospitalized SAH and sudden-death SAH patients. METHODS: The population-based FINRISK study cohort of 65 521 individuals was followed up for 1.52 million person-years. The Cox proportional hazards model calculated hazard ratios (HRs), with all analyses adjusted for known SAH risk factors, marital status, and socioeconomic status...
July 24, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28739777/establishment-of-a-comprehensive-drug-overdose-fatality-surveillance-system-in-kentucky-to-inform-drug-overdose-prevention-policies-interventions-and-best-practices
#19
Sarah L Hargrove, Terry L Bunn, Svetla Slavova, Dana Quesinberry, Tracey Corey, William Ralston, Michael D Singleton, Van Ingram
BACKGROUND: According to the National Center for Health Statistics, Kentucky had the third highest drug overdose fatality rate in the nation in 2015 at 29.9 drug overdose fatalities per 100 000 population. OBJECTIVE: The elevated drug overdose fatality rate necessitated the development and implementation of a comprehensive multisource drug overdose fatality surveillance system (DOFSS). METHODS: DOFSS stakeholder work group members and data sources were identified, and memorandums of understanding were established...
July 24, 2017: Injury Prevention: Journal of the International Society for Child and Adolescent Injury Prevention
https://www.readbyqxmd.com/read/28739175/sudden-infant-death-from-neonate-carnitine-palmitoyl-transferase-ii-deficiency
#20
Si-Hao Du, Fu Zhang, Yan-Geng Yu, Chuan-Xiang Chen, Hui-Jun Wang, Dong-Ri Li
A full-term female baby born to parents who gave birth three years prior to a girl who survived only 31h postpartum died 36h after birth. An autopsy showed that the heart was markedly hypertrophic (32g). Microscopically, the myocardium, liver and kidney cells exhibited extensive vacuolar degeneration. Sudan III staining was positive in cardiac muscle, liver and kidney tissue. Tandem mass spectrometry analysis revealed that the deceased patient had a carnitine palmitoyl transferase II (CPT2) deficiency or a carnitine-acylcarnitine translocase deficiency...
June 27, 2017: Forensic Science International
keyword
keyword
3342
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"