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Am J Med Genet B Neuropsychiatr Genet 2018 Dec 6. Epub 2018 Dec 6.

Centre for Pattern Recognition and Data Analytics (PRaDA), Deakin University, Geelong, Australia.

Autism spectrum disorder (ASD) is a markedly heterogeneous condition with a varied phenotypic presentation. Its high concordance among siblings, as well as its clear association with specific genetic disorders, both point to a strong genetic etiology. However, the molecular basis of ASD is still poorly understood, although recent studies point to the existence of sex-specific ASD pathophysiologies and biomarkers. Read More

Forensic Sci Med Pathol 2018 Dec 5. Epub 2018 Dec 5.

Department of Biological Sciences, Florida International University, Miami, FL, USA.

Death does not occur instantaneously and organs do not decompose at the same rate or in the same way. Nulligravid human uteri and prostate glands are the last internal organs to deteriorate during decomposition; however, the reason for this very important observation is still enigmatic. Recent studies have elucidated that the composition and abundance of microbes in the human thanatomicrobiome (microbiome of death) varies by organ and changes as a function of time and temperature. Read More

Respirol Case Rep 2019 Feb 28;7(2):e00390. Epub 2018 Nov 28.

Respiratory Department Universiti Kebangsaan Malaysia Medical Centre Kuala Lumpur Malaysia.

Pleural anthracosis is rare and, in most cases, is diagnosed incidentally or at autopsy. We report a 67-year-old man with pleural anthracosis. He was initially referred for possible tuberculous pleural effusion and had recurrent admissions for symptomatic pleural effusion, which increased with each subsequent episode. Read More

Sci Transl Med 2018 Dec;10(470)

Neurimmune AG, 8952 Schlieren, Switzerland.

Mutations in the gene encoding superoxide dismutase 1 (SOD1) lead to misfolding and aggregation of SOD1 and cause familial amyotrophic lateral sclerosis (FALS). However, the implications of wild-type SOD1 misfolding in sporadic forms of ALS (SALS) remain unclear. By screening human memory B cells from a large cohort of healthy elderly subjects, we generated a recombinant human monoclonal antibody (α-miSOD1) that selectively bound to misfolded SOD1, but not to physiological SOD1 dimers. Read More

Sci Transl Med 2018 Dec;10(470)

Center for Infection and Inflammation Imaging Research, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Tuberculous meningitis (TBM) is a devastating form of tuberculosis (TB), and key TB antimicrobials, including rifampin, have restricted brain penetration. A lack of reliable data on intralesional drug biodistribution in infected tissues has limited pharmacokinetic (PK) modeling efforts to optimize TBM treatments. Current methods to measure intralesional drug distribution rely on tissue resection, which is difficult in humans and generally limited to a single time point even in animals. Read More

J Immunol 2018 Dec 5. Epub 2018 Dec 5.

Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY 10016.

Given that diseases associated with anti-SSA/Ro autoantibodies, such as systemic lupus erythematosus and Sjögren syndrome, are linked with an upregulation of IFN and type I IFN-stimulated genes, including sialic acid-binding Ig-like lectin 1 (Siglec-1), a receptor on monocytes/macrophages, recent attention has focused on a potential role for IFN and IFN-stimulated genes in the pathogenesis of congenital heart block (CHB). Accordingly, three approaches were leveraged to address the association of IFN, IFN-stimulated genes, and the phenotype of macrophages in affected fetal cardiac tissue: 1) cultured healthy human macrophages transfected with hY3, an anti-SSA/Ro-associated ssRNA, 2) RNA isolated from freshly sorted human leukocytes/macrophages after Langendorff perfusion of three fetal hearts dying with CHB and three healthy gestational age-matched hearts, and 3) autopsy tissue from three additional human CHB hearts and one healthy heart. TLR ligation of macrophages with hY3 led to the upregulation of a panel of IFN transcripts, including SIGLEC1, a result corroborated using quantitative PCR. Read More

BMC Womens Health 2018 Dec 5;18(1):198. Epub 2018 Dec 5.

Mothers and Babies Research Centre, Faculty of Health and Medicine, University of Newcastle, Newcastle, Australia.

Background: Despite efforts at curbing maternal morbidity and mortality, developing countries are still burdened with high rates of maternal morbidity and mortality. Ethiopia is not an exception and has one of the world's highest rates of maternal deaths. Reducing the huge burden of maternal mortality remains the single most serious challenge in Ethiopia. Read More

Int J Mol Sci 2018 Dec 4;19(12). Epub 2018 Dec 4.

Department of Neurology, Fukuoka University, Fukuoka 814-0180, Japan.

Parkinson's disease (PD) and atypical parkinsonian syndromes are age-dependent multifactorial neurodegenerative diseases, which are clinically characterized by bradykinesia, tremor, muscle rigidity and postural instability. Although these diseases share several common clinical phenotypes, their pathophysiological aspects vary among the disease categories. Extensive animal-based approaches, as well as postmortem studies, have provided important insights into the disease mechanisms and potential therapeutic targets. Read More

JAMA Neurol 2018 Dec 3. Epub 2018 Dec 3.

Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.

Importance: Neuronal and axonal destruction are hallmarks of neurodegenerative diseases, but it is difficult to estimate the extent and progress of the damage in the disease process.

Objective: To investigate cerebrospinal fluid (CSF) levels of neurofilament light (NFL) protein, a marker of neuroaxonal degeneration, in control participants and patients with dementia, motor neuron disease, and parkinsonian disorders (determined by clinical criteria and autopsy), and determine its association with longitudinal cognitive decline.

Design, Setting, And Participants: In this case-control study, we investigated NFL levels in CSF obtained from controls and patients with several neurodegenerative diseases. Read More

JAMA Neurol 2018 Dec 3. Epub 2018 Dec 3.

Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Lund, Sweden.

Importance: In Alzheimer disease (AD), tau filaments form neuronal inclusions in neurites (neuropil threads) and in somata (neurofibrillary tangles), and neurite tau pathology constitutes the most common pathology. Positron emission tomography (PET) ligands have been developed to detect in vivo tau pathology in AD. However, the association of AD tau pathology post mortem with in vivo tau PET retention has not been established. Read More

Clin Orthop Relat Res 2018 Nov 29. Epub 2018 Nov 29.

F. Schmaranzer, E. F. Liechti, M. Tannast, Department of Orthopaedic Surgery, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland L. Arendt, K. Nuss, B. von Rechenberg, M. Tannast, Musculoskeletal Research Unit (MSRU), Equine Hospital, Vetsuisse Faculty, University of Zürich, Zürich, Switzerland P. R. Kircher, Department of Small Animals, Division of Diagnostic Imaging, Vetsuisse Faculty, University of Zürich, Zürich, Switzerland.

Background: Biochemical MRI of hip cartilage such as delayed gadolinium-enhanced MRI of cartilage (dGEMRIC) and T2 mapping is increasingly used to judge cartilage quality in the assessment of femoroacetabular impingement (FAI). The current evidence is sparse about which of these techniques yields a stronger correlation with histologic cartilage degeneration because of the difficulty in validating biochemical MRI techniques against histology in the clinical setting. Recently, an experimental ovine FAI model was established that induces chondrolabral damage and offers a validated platform to address these limitations. Read More

Am J Forensic Med Pathol 2018 Nov 29. Epub 2018 Nov 29.

Department of Forensic Medicine, University of Helsinki, Helsinki, Finland.

Cytochrome p450 family 2, subfamily D, polypeptide 6 (CYP2D6) may be used to infer the metabolizer phenotype (MP) of an individual as poor, intermediate, extensive/normal, or ultrarapid. Metabolizer phenotypes may suggest idiosyncratic drug responses as contributing factors to cause and/or manner of death in postmortem investigations. Application of CYP2D6 has used long-range amplification of the locus and restriction enzyme digestion to detect single-nucleotide variants (SNVs) associated with MPs. Read More

Lancet Infect Dis 2018 Dec;18(12):1329-1349

Background: Although a preventable and treatable disease, tuberculosis causes more than a million deaths each year. As countries work towards achieving the Sustainable Development Goal (SDG) target to end the tuberculosis epidemic by 2030, robust assessments of the levels and trends of the burden of tuberculosis are crucial to inform policy and programme decision making. We assessed the levels and trends in the fatal and non-fatal burden of tuberculosis by drug resistance and HIV status for 195 countries and territories from 1990 to 2016. Read More

Lancet Neurol 2018 Dec 13;17(12):1061-1082. Epub 2018 Nov 13.

Background: Acute meningitis has a high case-fatality rate and survivors can have severe lifelong disability. We aimed to provide a comprehensive assessment of the levels and trends of global meningitis burden that could help to guide introduction, continuation, and ongoing development of vaccines and treatment programmes.

Methods: The Global Burden of Diseases, Injuries, and Risk Factors (GBD) 2016 study estimated meningitis burden due to one of four types of cause: pneumococcal, meningococcal, Haemophilus influenzae type b, and a residual category of other causes. Read More

Basic Clin Pharmacol Toxicol 2018 Dec 3. Epub 2018 Dec 3.

Laboratory of Neuropharmacology, Institut Universitari d'Investigació en Ciències de la Salut (IUNICS), University of the Balearic Islands (UIB), and Institut d'investigació Sanitària Illes Balears (IdISBa), Palma de Mallorca, Spain.

The biochemical abnormalities in transmembrane signal transduction mediated through G protein-coupled receptors (GPCRs) have been postulated as underlying pathophysiology of psychiatric diseases such as schizophrenia and mood disorders. In the present study, the experimental conditions of agonist-induced [ S]GTPγS binding in postmortem human brain membranes were optimized, and the responses induced by a series of agonists were pharmacologically characterized. The [ S]GTPγS binding assay was performed in postmortem human prefrontal cortical membranes by means of filtration techniques, and standardized as to GDP concentration, membrane protein content, MgCl and NaCl concentrations in assay buffer, incubation period, and effect of white matter contamination. Read More

J Pathol 2018 Dec 2. Epub 2018 Dec 2.

Department of Pathology, Amsterdam UMC, University of Amsterdam, Netherlands.

Extracellular traps generated by neutrophils contribute to thrombus progression in coronary atherosclerotic plaques. It is not known whether other inflammatory cell types in coronary atherosclerotic plaque or thrombus also release extracellular traps. We investigated their formation by macrophages, mast cells and eosinophils in human coronary atherosclerosis, and in relation to the age of thrombus of myocardial infarction patients. Read More

Ir J Med Sci 2018 Nov 30. Epub 2018 Nov 30.

Department of Neuropathology, Beaumont Hospital, Beaumont Road, Dublin 9, Ireland.

Introduction: Chronic traumatic encephalopathy (CTE) is a postmortem diagnosis. Consensus postmortem, but not antemortem, diagnostic criteria have been established. A key factor in these criteria is evidence of phosphorylated-tau (p-tau) around sulcal vessels in the cortex. Read More

Forensic Sci Med Pathol 2018 Dec 1. Epub 2018 Dec 1.

Institute of Forensic Medicine, University of Belgrade - School of Medicine, 31a Deligradska str., Belgrade, 11000, Serbia.

An accident occurred at a construction site and a 27-year-old worker was fatally injured. Equipped with personal protective equipment (helmet and a safety belt), he was standing on an 8-meter-high platform holding a large hose that was attached to a pipe connected to a concrete pump truck. Whilst in use the pipe broke and the hose sent the man flying with force, knocking down the platform railing. Read More

JCO Precis Oncol 2018 16;2018. Epub 2018 Jan 16.

Department of Medicine, University of California, San Francisco, USA.

Purpose: Desmoplastic stroma is a cardinal feature of primary pancreatic ductal adenocarcinoma (PDAC), but its effects on the biology, prognosis and therapeutic outcomes are not known. We developed an automated method to assess tumor stroma density (TSD) and investigated computed tomography (CT)-correlates of stroma in PDAC.

Patients And Methods: We collected PDAC samples from rapid autopsy and resection series and digitally annotated samples to quantify TSD. Read More

Ophthalmol Retina 2018 Sep 21;2(9):963-971. Epub 2018 Mar 21.

Department of Ophthalmology, Duke University, Durham, NC, 27710, USA.

Purpose: Bedside examination of premature infants at risk for retinopathy of prematurity (ROP) is predominantly performed with ophthalmoscopic viewing of the retina. While postmortem retinal microstructures have been studied at the vascular-avascular junction, a critical location for pathogenesis of ROP, to date this has not been possible . Here we present bedside, non-sedated cross-sectional imaging and analysis of retinal microstructures at the vascular-avascular junction in infants with ROP using handheld spectral-domain optical coherence tomography (SDOCT). Read More

Urol Case Rep 2019 Mar 15;23:6-9. Epub 2018 Nov 15.

Department of Pathology, Tokyo Metropolitan Geriatric Hospital, 35-2 Sakae-cho, Itabashi-ku, Tokyo, 173-0015, Japan.

J Pathol Inform 2018 29;9:36. Epub 2018 Oct 29.

Department of Pathology, Førde Central Hospital, Førde, Norway.

Background: Validation studies in digital pathology addressed so far diverse aspects of the routine work. We aimed to establish a complete remote digital pathology service.

Methods: Altogether 2295 routine cases (8640 slides) were reported in our studies on digital versus microscopic diagnostics, remote reporting, diagnostic time, fine-needle aspiration cytology (FNAC) clinics, frozen sections, and diagnostic sessions with residents. Read More

Med Mycol J 2018 ;59(4):E53-E62

Department of Pathology, Kitasato University School of Medicine.

Background And Methods: Our group has continuously studied the epidemiology of visceral mycoses (VM) among autopsy cases in Japan from 1989 to 2013.

Results: First, from a total of 11,149 autopsied cases, 571 (5.1%) cases of VM were observed in 2013. Read More

Neurol India 2018 Nov-Dec;66(6):1721-1725

Department of Pathology and Neurology, Command Hospital Air Force, Bengaluru, Karnataka, India.

Dengue viral infection with unusual presentations has been described in literature, but autopsy is rarely done and is only limited to some cases, based on the literature review. Here, we present the autopsy findings in three cases of dengue encephalitis. All the three patients clinically presented with signs of meningoencephalitis and were positive for dengue non-structural (NS) 1 antigen (Ag) in the serum and cerebrospinal fluid. Read More

J Forensic Leg Med 2018 Nov 26;61:89-91. Epub 2018 Nov 26.

Institute od Pathology, Faculty of Medicine, Slovak Medical University and Cytopathos Ltd., Limbova 12, 833 03 Bratislava, Slovakia. Electronic address:

The incidence of sudden death caused by undiagnosed primary intracranial neoplasm in young adults is extremely low. The aim of the work is to present a case report of the sudden death of a 24-year-old woman. The autopsy has revealed enlargement of sella turcica with an intrasellar tumorous mass extending into the adjacent basal parts of the brain. Read More

Mol Genet Metab 2018 Nov 13. Epub 2018 Nov 13.

Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, United States.

Background: Hematopoietic cell transplantation (HCT) is accepted therapy for severe mucopolysaccharidosis type I (MPS IH). With implementation of newborn screening (NBS) for MPS I in the US, HCT may now occur earlier than 1-2 years of age and it might be assumed that cardiac issues will be fewer. To examine this hypothesis, we reviewed our records for any MPS IH infant who underwent HCT at ≤6 months of age. Read More

J Neuroimmunol 2018 Nov 20;326:62-74. Epub 2018 Nov 20.

Department of Pharmacology, SPP School of Pharmacy & Technology Management, SVKM's NMIMS, V.L. Mehta Road, Vile Parle (W), Mumbai 400056, India. Electronic address:

Microglial activation is a distinguished attribute in many neurodegenerative diseases of aging. Compelling evidence suggests that neuroinflammation stimulated by microglia, the resident macrophage-like immune cells in the brain, play a contributing role in the pathogenesis of Alzheimer's disease (AD). Postmortem brain tissue of individuals with AD has credibly demonstrated that neuroinflammation is likely to be a key driver of the disease. Read More

J Surg Res 2019 Jan 22;233:453-458. Epub 2018 Sep 22.

Division of Trauma and Burns, Department of Surgery, Harborview Medical Center, University of Washington, Seattle, Washington. Electronic address:

Background: Despite a proven record of identifying injuries missed during clinical evaluation, the effect of autopsy on injury severity score (ISS) calculation is unknown. We hypothesized that autopsy data would alter final ISS and improve the accuracy of outcome data analyses.

Materials And Methods: All trauma deaths from January 2010 through June 2014 were reviewed. Read More

Ann Otol Rhinol Laryngol 2018 Dec 2:3489418814865. Epub 2018 Dec 2.

1 University of São Paulo, São Paulo, Brazil.

Objectives:: The clinical symptoms of Alzheimer's disease (AD) are preceded by a long asymptomatic period associated with "silent" deposition of aberrant paired helical filament (PHF)-tau and amyloid-beta proteins in brain tissue. Similar depositions have been reported within the olfactory epithelium (OE), a tissue that can be biopsied in vivo. The degree to which such biopsies are useful in identifying AD is controversial. Read More

Brain Sci 2018 Nov 29;8(12). Epub 2018 Nov 29.

Department of Anthropology, Social Sciences Building Rm. 210, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0532, USA.

Williams Syndrome (WS) is a neurodevelopmental disorder caused by a deletion of 25⁻28 genes on chromosome 7 and characterized by a specific behavioral phenotype, which includes hypersociability and anxiety. Here, we examined the density of neurons and glia in fourteen human brains in Brodmann area 25 (BA 25), in the ventromedial prefrontal cortex (vmPFC), using a postmortem sample of five adult and two infant WS brains and seven age-, sex- and hemisphere-matched typically developing control (TD) brains. We found decreased neuron density, which reached statistical significance in the supragranular layers, and increased glia density and glia to neuron ratio, which reached statistical significance in both supra- and infragranular layers. Read More

Rev Soc Bras Med Trop 2018 Nov-Dec;51(6):865-867

Fundação de Medicina Tropical Dr. Heitor Vieira Dourado, Manaus, AM, Brasil.

The involvement of Mycobacterium tuberculosis in the central nervous system (CNS) is an uncommon and devastating manifestation of tuberculosis. We report a case of disseminated tuberculosis presenting as meningoencephalitis, hypothalamic involvement with extension to the hypophysis, and secondary insipidus diabetes diagnosed at autopsy. Read More

Traffic Inj Prev 2018 Dec 5:1-6. Epub 2018 Dec 5.

a Department of Neurosurgery , Medical College of Wisconsin , Milwaukee , Wisconsin.

Objectives: Analyses of recent automotive accident data indicate an increased risk of injury for small female occupants compared to males in similar accidents. Females have been shown to be more susceptible to spinal injuries than males. To protect this more vulnerable population, advanced anthropomorphic test devices (ATDs) and computer human body models are being developed and require biofidelity curves for validation. Read More

Aging Cell 2018 Dec 4:e12866. Epub 2018 Dec 4.

Molecular Neurobiology Laboratory, Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, Massachusetts.

The orphan nuclear receptor Nurr1 (also known as NR4A2) is critical for the development and maintenance of midbrain dopaminergic neurons, and is associated with Parkinson's disease. However, an association between Nurr1 and Alzheimer's disease (AD)-related pathology has not previously been reported. Here, we provide evidence that Nurr1 is expressed in a neuron-specific manner in AD-related brain regions; specifically, it is selectively expressed in glutamatergic neurons in the subiculum and the cortex of both normal and AD brains. Read More

Int J Legal Med 2018 Dec 4. Epub 2018 Dec 4.

Institute of Legal Medicine, University Medical Center, Faculty of Medicine, University of Freiburg, Albertstraße 9, 79104, Freiburg, Germany.

A muzzle imprint mark is a highly diagnostic finding, which indicates a contact shot. In many cases, it also provides additional information on the type of the weapon used and on the way in which it was held at the time of firing. In semi-automatic pistols, some constructional elements constituting the muzzle plane move to the rear together with the slide, which may prevent them from causing a corresponding imprint close to the bullet entrance hole. Read More

Mov Disord Clin Pract 2018 Sep-Oct;5(5):519-522. Epub 2018 Oct 4.

Reta Lila Weston Institute of Neurological Studies Institute of Neurology, University College London London United Kingdom.

Introduction: We have performed a retrospective analysis of the frequency and relation to treatment of dopamine dysregulation syndrome (DDS) using the Queen Square Brain Bank (QSBB) database.

Methods: A search of the QSBB database for consecutive cases donated between 2005 and 2016 with a pathological diagnosis of Parkinson's disease was performed.

Results: DDS was present in 8. Read More

PeerJ 2018 27;6:e5909. Epub 2018 Nov 27.

Department of Geology, Bowling Green State University, Bowling Green, OH, United States of America.

The chambered shells of cephalopod mollusks, such as modern and fossil ammonoids, have the potential to float after death, which could result in significant postmortem transport of shells away from living habitats. Such transport would call into question these clades' documented biogeographic distributions and therefore the many (paleo)biological interpretations based on them. It is therefore imperative to better constrain the likelihood and extent of postmortem transport in modern and fossil cephalopods. Read More

Mater Sociomed 2018 Oct;30(3):189-192

Department of Neurosurgery, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Introduction: Cerebral arterial variations are commonly associated with cerebrovascular disease and should be considered during brain surgeries. Since some cerebrovascular diseases are seen in certain breeds, it seems that different distributions of cerebral arterial variations depend on race.

Aim: The aim of this study was to determine the random incidence of vascular anomalies of the circle of Willis in autopsy of the cadavers. Read More

Transl Psychiatry 2018 Dec 4;8(1):257. Epub 2018 Dec 4.

Department of Psychology, California National Primate Research Center, University of California-Davis, One Shields Avenue, Davis, CA, 95616, USA.

The prosocial hormone oxytocin (OXT) has become a new target for research on the etiology and treatment of autism spectrum disorder (ASD), a condition characterized by deficits in social function. However, it remains unknown whether there are alterations in OXT receptor (OXTR) levels in the ASD brain. This study quantified the density of OXTR and of the structurally related vasopressin 1a receptor (AVPR1a) in postmortem brain tissue from individuals with ASD and typically developing individuals. Read More

BMC Infect Dis 2018 Dec 4;18(1):620. Epub 2018 Dec 4.

Division of Infectious Diseases and Tropical Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkoknoi, Bangkok, 10700, Thailand.

Background: Gastrointestinal (GI) cryptococcosis is rarely reported. Most cases were diagnosed during evaluation of comorbid conditions, incidental findings, or postmortem. Here, we present a case of Crohn's disease with gastrointestinal cryptococcosis that resembled exacerbation of Crohn's disease. Read More

Med Sci Law 2018 Dec 4:25802418816283. Epub 2018 Dec 4.

Department of Forensic Medicine, ESIC Medical College, India.

This study formulated a regression equation to estimate the maximum overhead reach of a person using his/her height. Height and maximum overhead reach of participants aged 21-30 years were measured. A regression equation was formulated to find the relation between height and maximum overhead reach. Read More

Int J Mol Sci 2018 Nov 30;19(12). Epub 2018 Nov 30.

Department of Translational Research in Psychiatry, Max Planck Institute of Psychiatry, 80804 Munich, Germany.

Childhood-onset schizophrenia (COS) is a rare psychiatric disorder characterized by earlier onset, more severe course, and poorer outcome relative to adult-onset schizophrenia (AOS). Even though, clinical, neuroimaging, and genetic studies support that COS is continuous to AOS. Early neurodevelopmental deviations in COS are thought to be significantly mediated through poorly understood genetic risk factors that may also predispose to long-term outcome. Read More

Rev Prat 2017 Jun;67(6):668-672

service de médecine nucléaire institut Gustave- Roussy, université Paris-Saclay, Inserm U1018, Villejuif, France.

Epidemiology of thyroid cancer. There is an important increase in the frequency of thyroid cancer in France, even after taking into account population increase and aging. This increase is essentially due to overdiagnosis. Read More

J Forensic Sci 2018 Dec 4. Epub 2018 Dec 4.

Forensic Science SA, GPO Box 2790, Adelaide, 5001.

A 32-year-old woman collapsed following an intravenous injection of material that included crushed pharmaceutical tablets. Resuscitation was attempted but was unsuccessful. She had an extensive past medical history of complications resulting from intravenous drug use. Read More

Am J Med Genet A 2018 Dec 4. Epub 2018 Dec 4.

Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 10 patients have been described with mutations in PRMT7. Read More

Plast Reconstr Surg 2018 Nov;142(5):1209-1211

Santa Monica, Calif. From the David Geffen School of Medicine at University of California, Los Angeles.

Brain Pathol 2018 Dec 3. Epub 2018 Dec 3.

Department of Neurobiology and, Department of Neurology of the Second Affiliated Hospital, NHC and CAMS Key Laboratory of Medical Neurobiology, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310058, P.R. China.

Our previous studies showed that the transcription factor early growth response-1 (EGR1) may play a role in keeping the brain cholinergic function intact in the preclinical stages of Alzheimer's disease (AD). In order to elucidate the mechanisms involved, we first performed data mining on our previous microarray study on postmortem human prefrontal cortex (PFC) for the changes in the expression of EGR1 and acetylcholinesterase (AChE) and the relationship between them during the course of AD. The study contained 49 patients, ranging from non-demented controls (Braak stage 0) to late AD patients (Braak stage VI). Read More

Neuropathology 2018 Dec 3. Epub 2018 Dec 3.

Department of Pathology, Kurume University School of Medicine, Kurume, Japan.

Progressive multifocal leukoencephalopathy (PML) is a rare fatal demyelinating disease of the central nervous system caused by reactivation of the JC virus (JCV), which is named after the initials of the patient from whom the virus was first isolated. JCV is highly prevalent worldwide, infects humans in early childhood, and the infection persists throughout the course of life in latent form. The present paper deals with the second autopsy case report of rituximab-associated PML in Japan. Read More

Neuropathology 2018 Dec 3. Epub 2018 Dec 3.

Department of Neurology, Mifukai Vihara Hananosato Hospital, Hiroshima, Japan.

Amyotrophic lateral sclerosis (ALS) primarily affects upper and lower motor neurons. Phosphorylated trans-activation response DNA-binding protein of 43 kDa (TDP-43) inclusion bodies are reportedly a pathological hallmark of sporadic ALS. Here, we present an atypical case of sporadic ALS that progressed very slowly, persisted for 19 years, and clinically appeared to only affect the lower motor neurons; however, upper motor neuron degeneration was detected at autopsy. Read More

J Neurol 2018 Dec 3. Epub 2018 Dec 3.

Department of Neurology and Neurological Science, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences, 1-5-45 Yushima Bunkyo-ku, Tokyo, 113-8510, Japan.

Objective: In the present study, we analyzed the inflammatory profiles of brain tissues obtained from patients with progressive multifocal leukoencephalopathy (PML) due to John Cunningham (JC) virus infection to identify potential prognostic factors.

Methods: The study included seven patients (two men, five women) who had been pathologically diagnosed with PML, and all of whom were HIV negative. Fixed brain samples were analyzed via hematoxylin and eosin (HE) staining and Klüver-Barrera (KB) staining. Read More