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https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#1
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29679215/diagnostic-role-of-serum-tryptase-in-anaphylactic-deaths-in-forensic-medicine-a-systematic-review-and-meta-analysis
#2
REVIEW
Kai-Jian Sun, Jie-Tao He, Hong-Yan Huang, Ye Xue, Xiao-Li Xie, Qi Wang
Postmortem diagnosis of sudden death due to anaphylaxis can be very difficult due to the non-specific pathological findings in forensic practice. Postmortem serum tryptase has been used as an indicator of possible ante-mortem anaphylaxis. Though many previous studies have been conducted to explore the diagnostic significance of serum tryptase for lethal anaphylaxis, inconsistent results were documented. In this study, we made a retrospective study and presented a systematic review and meta-analysis that aims to summarize the diagnostic significance of postmortem serum tryptase in the deceased with and without anaphylactic shock and to calculate a cutoff value for future reference in the identification of deaths due to anaphylactic shock...
April 21, 2018: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29678647/post-mortem-retrieval-of-arterial-allografts-preliminary-results
#3
Dorian Verscheure, Julien Gaudric, Jérémie Jayet, Philippe Tresson, Mohamed Jarraya, Pierre Julia, Marc Coggia, Laurent Chiche, Fabien Koskas
OBJECTIVES: Cryopreserved arterial allografts are vascular substitutes used for arterial reconstructions in a septic field. Their use remains however limited by the shortage of donors. One of the possibilities to address this lack of grafts is to multiply the sources of retrieval. The objective of this preliminary study was the evaluation of the early clinical results and the microbiological safety of arterial grafts retrieved after death. MATERIAL AND METHODS: In addition to the standard conditions of arterial sampling the criteria of inclusion for postmortem retrieval comprised the refrigeration of the body of the donor within four hours following the death, a 24-hour time limit from the death, and the availability of an adapted place for retrieval (surgical unit or death chamber respecting the required aseptic conditions)...
April 17, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29677380/end-of-life-education-and-discussions-with-assisted-living-certified-nursing-assistants
#4
Wendy L Mohlman, Kara Dassel, Katherine P Supiano, Michael Caserta
In previous work, the current researchers examined attitudes and experiences of certified nursing assistants (CNAs) providing end-of-life (EOL) care in an assisted living facility (ALF). Results showed that 70% of participating CNAs felt unprepared to provide EOL care, largely due to not having received prior EOL care education within their schools or workplaces. Therefore, the goal of the current study was to implement and evaluate EOL and postmortem education to ALF CNAs. A focus group of 14 CNAs within an ALF was provided EOL education pertaining to the physiological and psychological changes observed in patients nearing EOL and postmortem care...
April 19, 2018: Journal of Gerontological Nursing
https://www.readbyqxmd.com/read/29676187/decrease-of-ryr2-in-the-prion-infected-cell-line-and-in-the-brains-of-the-scrapie-infected-mice-models-and-the-patients-of-human-prion-diseases
#5
Qi Shi, Jian-Le Li, Yue Ma, Li-Ping Gao, Kang Xiao, Jing Wang, Wei Zhou, Cao Chen, Yan-Jun Guo, Xiao-Ping Dong
The levels of ryanodine receptors (RyRs) are usually increased in the brains of human Alzheimer disease (AD) and AD animal models. To evaluate the underlying alteration of brain RyRs in prion disease, scrapie infected cell line SMB-S15 and its infected mice were tested. RyR2 specific Western blots revealed markedly decreased RyR2 levels both in the cells and in the brains of infected mice. Assays of the brain samples of other scrapie (agents 139A and ME7) infected mice collected at different time-points during incubation period showed time-dependent decreases of RyR2...
April 20, 2018: Prion
https://www.readbyqxmd.com/read/29676026/selective-inversion-recovery-quantitative-magnetization-transfer-brain-mri-at-7t-clinical-and-postmortem-validation-in-multiple-sclerosis
#6
Francesca Bagnato, Simon Hametner, Giulia Franco, Siddharama Pawate, Subramaniam Sriram, Hans Lassmann, John Gore, Seth E Smith, Richard Dortch
BACKGROUND AND PURPOSE: An imaging biomarker of myelin integrity is an unmet need in multiple sclerosis (MS). Selective inversion recovery (SIR) quantitative magnetization transfer imaging (qMT) provides assays of myelin content in the human brain. We previously translated the SIR method to 7T and incorporated a rapid turbo field echo (TFE) readout for whole-brain imaging within clinically acceptable scan times. We herein provide histological validation and test in vivo feasibility and applicability of the SIR-TFE protocol in MS...
April 19, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29675860/pulmonary-pleomorphic-carcinoma-a-case-harboring-egfr-mutation-treated-with-egfr-tkis
#7
Ken Masuda, Takaaki Tokito, Koichi Azuma, Eriko Yanagida, Masayuki Nakamura, Yoshiko Naito, Norikazu Matsuo, Hidenobu Ishii, Kazuhiko Yamada, Jun Akiba, Tomoaki Hoshino
Pulmonary pleomorphic carcinoma (PPC) is a very rare type of primary lung cancer with an aggressive clinical course. Few reports have documented therapeutic options for PPC with EGFR mutations. Herein, we report a case of PPC with EGFR mutation treated with EGFR-tyrosine kinase inhibitors (TKIs). A 65-year-old Japanese woman was diagnosed with stage IV lung adenocarcinoma with L858R point mutation in exon 21. Despite treatment with erlotinib, the patient died after two weeks as a result of rapid disease progression...
April 19, 2018: Thoracic Cancer
https://www.readbyqxmd.com/read/29675823/impact-of-neurodegenerative-diseases-on-drug-binding-to-brain-tissues-from-animal-models-to-human-samples
#8
Ana Ugarte, David Corbacho, María S Aymerich, Ana García-Osta, Mar Cuadrado-Tejedor, Julen Oyarzabal
Drug efficacy in the central nervous system (CNS) requires an additional step after crossing the blood-brain barrier. Therapeutic agents must reach their targets in the brain to modulate them; thus, the free drug concentration hypothesis is a key parameter for in vivo pharmacology. Here, we report the impact of neurodegeneration (Alzheimer's disease (AD) and Parkinson's disease (PD) compared with healthy controls) on the binding of 10 known drugs to postmortem brain tissues from animal models and humans. Unbound drug fractions, for some drugs, are significantly different between healthy and injured brain tissues (AD or PD)...
April 19, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/29675496/macroscopic-features-of-the-kidneys-of-fetuses-and-newborns-in-preeclampsia-postmortem-observational-study
#9
Iryna Sorokina, Tetyana Ospanova, Mykhailo Myroshnychenko, Iryna Korneyko
Background: The state of the mother health is of great importance in the development of children renal pathology. Objective: To reveal macroscopic features of the fetuses and newborns kidneys of the mothers whose pregnancy was complicated by preeclampsia. Materials and Methods: The study involved the kidneys of 106 full-term fetuses and newborns of mothers with physiological pregnancy, complicated pregnancy by preeclampsia. During the autopsies, the shape, texture, surface, color were assessed in each kidney, and then its weight, length, width and thickness were measured...
February 2018: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/29673985/phylogenetic-uniqueness-of-mycobacterium-avium-subspecies-hominissuis-isolated-from-an-abnormal-pulmonary-bovine-case
#10
Shiomi Yoshida, Tsubasa Araki, Tomohito Asai, Kazunari Tsuyuguchi, Kentaro Arikawa, Tomotada Iwamoto, Chie Nakajima, Yasuhiko Suzuki, Kenji Ohya, Tokuma Yanai, Takayuki Wada, Taro Yamamoto
Mycobacterium avium subspecies hominissuis (MAH) is an important cause of infection in human pulmonary and swine intestinal cases. Although MAH is isolated from environmental sources frequently, infections of other animals have rarely been analysed. Recently, we detected granulomatous inflammation in bovine lung as an abnormal postmortem inspection case. To ascertain its genetic profile, we conducted a variable numbers of tandem repeats (VNTR) analysis and genomic characterization using deep sequencing. The VNTR type was a unique profile that differed from reported genotypes, but it was assigned within a broad genotypic complex of isolates from human patients and bathrooms...
April 16, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29673420/neurologic-complications-associated-with-transdermal-placement-of-intrathecal-catheters-in-sheep
#11
Gabrielle C Musk, Nolan J McDonnell, Mark Newman, Matthew W Kemp
A study using an ovine model of transdermal intrathecal catheterization was planned to investigate the neurotoxicity ofmagnesium sulfate. Nonpregnant Merino cross ewes (n = 8; age, 5 y; weight, 55.0 ± 6.5 kg) were anesthetized for placementof a lumbar intrathecal catheter. The study protocol defined a 5-d recovery period after introduction of the catheter before theadministration of test substances (2 mL of 0.9% saline or 50 or 150 mg MgSO4) followed by euthanasia 1 wk later. Although 3sheep successfully completed the study as planned, one of the remaining 5 sheep was withdrawn when the catheter was accidentally dislodged 2 d after anesthesia; another was withdrawn because of persistent neurologic deficits of the left hindlimb and intense pruritus during the first 24 h after placement of the catheter; and the remaining 3 animals experienced unacceptable complications within the first 4 h of administration of the test substance...
April 19, 2018: Comparative Medicine
https://www.readbyqxmd.com/read/29670079/upregulation-of-neuronal-astrocyte-elevated-gene-1-protects-nigral-dopaminergic-neurons-in-vivo
#12
Eunju Leem, Hyung-Jun Kim, Minji Choi, Sehwan Kim, Yong-Seok Oh, Kea Joo Lee, Young-Shik Choe, Jae-Young Um, Won-Ho Shin, Jae Yeong Jeong, Byung Kwan Jin, Dong Woon Kim, Catriona McLean, Paul B Fisher, Nikolai Kholodilov, Kwang Seok Ahn, Jae Man Lee, Un Ju Jung, Seok-Geun Lee, Sang Ryong Kim
The role of astrocyte elevated gene-1 (AEG-1) in nigral dopaminergic (DA) neurons has not been studied. Here we report that the expression of AEG-1 was significantly lower in DA neurons in the postmortem substantia nigra of patients with Parkinson's disease (PD) compared to age-matched controls. Similarly, decreased AEG-1 levels were found in the 6-hydroxydopamine (6-OHDA) mouse model of PD. An adeno-associated virus-induced increase in the expression of AEG-1 attenuated the 6-OHDA-triggered apoptotic death of nigral DA neurons...
April 18, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29667120/chromium-in-postmortem-material
#13
Danuta Dudek-Adamska, Teresa Lech, Tomasz Konopka, Paweł Kościelniak
Recently, considerable attention has been paid to the negative effects caused by the presence and constant increase in concentration of heavy metals in the environment, as well as to the determination of their content in human biological samples. In this paper, the concentration of chromium in samples of blood and internal organs collected at autopsy from 21 female and 39 male non-occupationally exposed subjects is presented. Elemental analysis was carried out by an electrothermal atomic absorption spectrometer after microwave-assisted acid digestion...
April 17, 2018: Biological Trace Element Research
https://www.readbyqxmd.com/read/29665752/histopathologic-findings-in-canine-pituitary-glands
#14
Margaret A Miller, David S Bruyette, J Catharine Scott-Moncrieff, Tina Jo Owen, José A Ramos-Vara, Hsin-Yi Weng, Andrea L Vanderpool, Annie V Chen, Linda G Martin, Deidre M DuSold, Sina Jahan
To optimize the histologic evaluation of hypophysectomy specimens, sections of 207 canine pituitary glands (196 postmortem, 11 hypophysectomy specimens) were reviewed. Adenohypophyseal proliferation was the most common (n = 79) lesion. Proliferative lesions were sparsely to densely granulated; the granules were usually basophilic to chromophobic and periodic acid-Schiff-positive. Adenohypophyseal proliferation was classified as hyperplasia (n = 40) if ≤2 mm diameter with intact reticulin network, as microadenoma (n = 22) for 1-5 mm homogeneous nodules with lost reticulin network, or as macroadenoma (n = 17) for larger tumors...
January 1, 2018: Veterinary Pathology
https://www.readbyqxmd.com/read/29665042/neural-tube-defects-in-embryonic-life-lessons-learned-from-340-early-pregnancy-failures
#15
David R Hartge, Michael Gembicki, Achim Rody, Jan Weichert
OBJECTIVES: The aim of this study was to evaluate the feasibility of sonographic assessment of the embryonic/fetal neural tube in nonviable pregnancies and to determine the defect incidence. METHODS: Prospective analysis of transvaginally acquired 3-dimensional (3D) multiplanar and 3D surface-rendered volume sets of 340 cases of missed abortion between March 2010 and September 2015 was performed. Data regarding karyotype and postmortem examination as well as demographic features and the outcomes of subsequent pregnancies were evaluated...
April 17, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29663736/platelets-lymphocytes-and-erythrocytes-from-alzheimer-s-disease-patients-the-quest-for-blood-cell-based-biomarkers
#16
Ryszard Pluta, Marzena Ułamek-Kozioł, Sławomir Januszewski, Stanisław J Czuczwar
In elderly population, Alzheimer's disease is a common neurodegenerative disorder and accounts for about 70% of all cases of dementia. The neurodegenerative processes of this disease start presumably 20 years ahead of the clinical beginning of the disorder. The postmortem histopathological examination, brains from Alzheimer's disease patients with characteristic features like amyloid plaques and neurofibrillary tangles, neuronal and synaptic disintegration confirm the final diagnosis of Alzheimer's disease...
2018: Folia Neuropathologica
https://www.readbyqxmd.com/read/29660990/novel-radiographic-assessment-of-the-cribriform-plate
#17
Kimia G Ganjaei, Zachary M Soler, Elliott D Mappus, Robert J Taylor, Mitchell L Worley, Jennifer K Mulligan, Jose L Mattos, Nicholas R Rowan, Guilherme J M Garcia, Judy R Dubno, Mark A Eckert, Lois J Matthews, Rodney J Schlosser
Background The cribriform plate (CP) is a common site of spontaneous cerebrospinal fluid (SCSF) leaks. Radiographic assessment of the anterior and lateral skull base has shown thinner bone in patients with SCSFs; however, prior assessment of the CP has required postmortem cadaver dissection. Objective To develop novel radiographic techniques to assess the anatomy of the CP. Methods Computed tomography (CT) scans were performed on cadaveric specimens. Bone density and anatomy of a predefined volume of interest of the posterior CP were assessed by two independent reviewers...
January 1, 2018: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/29660940/age-dependent-changes-to-sphingolipid-balance-in-the-human-hippocampus-are-gender-specific-and-may-sensitize-to-neurodegeneration
#18
Timothy A Couttas, Nupur Kain, Collin Tran, Zac Chatterton, John B Kwok, Anthony S Don
The greatest risk factor for developing Alzheimer's disease (AD) is aging. The major genetic risk factor for AD is the ɛ4 allele of the APOE gene, encoding the brain's major lipid transport protein, apolipoprotein E (ApoE). The research community is yet to decipher why the ApoE4 variant pre-disposes to AD, and how aging causes the disease. Studies have shown deregulated levels of sphingolipids, including decreased levels of the neuroprotective signaling lipid sphingosine 1-phosphate (S1P), and increased ceramide content, in brain tissue and serum of people with pre-clinical or very early AD...
April 11, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29660045/effect-of-dietary-supplementation-with-moringa-oleifera-leaf-on-performance-meat-quality-and-oxidative-stability-of-meat-in-broilers
#19
Yao-Ming Cui, Jing Wang, Wei Lu, Hai-Jun Zhang, Shu-Geng Wu, Guang-Hai Qi
The objective of this study was to evaluate the effects of dietary supplementation with Moringa oleifera leaf (MOL) on performance, carcass characteristics, meat quality, and oxidative stability of breast muscle in broilers. A total of 720 1-d-old male Arbor Acres birds were randomly divided into 6 dietary groups, which were fed a basal diet supplemented with 0, 1, 2, 5, 10, and 15% MOL, respectively. Each group had 6 replicates of 20 birds each. The feeding trial lasted for 42 d. The results showed dietary MOL supplementation linearly and quadratically decreased body weight and average daily gain (P < 0...
April 11, 2018: Poultry Science
https://www.readbyqxmd.com/read/29659922/chronology-of-the-intrapuparial-development-of-the-blowfly-chrysomya-albiceps-diptera-calliphoridae-application-in-forensic-entomology
#20
Mônica Salazar-Souza, Márcia S Couri, Valeria M Aguiar
Insects display different patterns of development, and blow flies have one of the most specialized patterns of intrapuparial development of all. In forensic entomology, pupae can be used as a tool to estimate the minimum postmortem time interval (minPMI). We analyzed the intrapuparial development of Chrysomya albiceps (Diptera: Caloricidade), whose larvae had been fed pig lungs and reared in a climate-controlled room at 28°C day/26°C night, 70 ± 10% RH, and 12 h of photophase and monitored daily. After the third-instar larvae abandoned their diet, the process of pupariation and pupation was monitored...
April 12, 2018: Journal of Medical Entomology
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