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Inclusion body

Rishibha Sachdev, Karin Kappes-Horn, Lydia Paulsen, Yvonne Duernberger, Catharina Pleschka, Philip Denner, Bishwajit Kundu, Jens Reimann, Ina Vorberg
Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disorder in the elderly with no defined etiology or effective therapy. Endoplasmic reticulum stress and deposition of myostatin, a secreted negative regulator of muscle growth, have been implicated in disease pathology. The myostatin signaling pathway has emerged as a major target for symptomatic treatment of muscle atrophy. Here, we systematically analyzed the maturation and secretion of myostatin precursor MstnPP and its metabolites in a human muscle cell line...
March 15, 2018: Molecular Neurobiology
Charlotte E Teunissen, Markus Otto, Sebastiaan Engelborghs, Sanna-Kaisa Herukka, Sylvain Lehmann, Piotr Lewczuk, Alberto Lleó, Armand Perret-Liaudet, Hayrettin Tumani, Martin R Turner, Marcel M Verbeek, Jens Wiltfang, Henrik Zetterberg, Lucilla Parnetti, Kaj Blennow
Body fluid biomarkers have great potential for different clinical purposes, including diagnosis, prognosis, patient stratification and treatment effect monitoring. This is exemplified by current use of several excellent biomarkers, such as the Alzheimer's disease cerebrospinal fluid (CSF) biomarkers, anti-neuromyelitis optica antibodies and blood neurofilament light. We still, however, have a strong need for additional biomarkers and several gaps in their development and implementation should be filled. Examples of such gaps are i) limited knowledge of the causes of neurological diseases, and thus hypotheses about the best biomarkers to detect subclinical stages of these diseases; ii) the limited success translating discoveries obtained by e...
March 15, 2018: Alzheimer's Research & Therapy
Mio Noma, Muneaki Matsubara, Chiho Tokunaga, Tomomi Nakajima, Bryan James Mathis, Hiroaki Sakamoto, Yuji Hiramatsu
BACKGROUND: Although pulmonary artery banding (PAB) is a common palliative procedure for pediatric heart malformation, there are concerns of pressure overload and concomitant immune reactions in the right ventricle causing postsurgical complications such as pericardial effusion. At this time, no clear guidelines as to potential risk factors or procedural contraindications have been widely disseminated. Therefore, a study was undertaken to examine wide-ranging factors to find potential biomarkers for postsurgical pericardial effusion formation risk...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman, Qin Sun
Disclaimer: These ACMG Standards are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests, or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jeffrey Earl Gotts, Lauren F Chun, Jason Abbott, Xiaohui Fang, Naoki Takasaki, Stephen L Nishimura, Matthew L Springer, Suzaynn F Schick, Carolyn S Calfee, Michael A Matthay
Evidence is accumulating that exposure to cigarette smoke (CS) increases the risk of developing Acute Respiratory Distress Syndrome (ARDS). S. pneumoniae is the most common cause of bacterial pneumonia, which in turn is the leading cause of ARDS. Chronic smokers have increased rates of pneumococcal colonization and develop more severe pneumococcal pneumonia than nonsmokers, yet mechanistic connections between CS exposure, bacterial pneumonia, and ARDS pathogenesis remain relatively unexplored. We exposed mice to 3 weeks of moderate whole-body CS or air, followed by intranasal inoculation with an invasive serotype of S...
March 15, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
Giuliano Tosello, Maria Regina Torloni, Bruna S Mota, Teresa Neeman, Rachel Riera
BACKGROUND: Metastatic breast cancer is not a curable disease, but women with metastatic disease are living longer. Surgery to remove the primary tumour is associated with an increased survival in other types of metastatic cancer. Breast surgery is not standard treatment for metastatic disease, however several recent retrospective studies have suggested that breast surgery could increase the women's survival. These studies have methodological limitations including selection bias. A systematic review mapping all randomised controlled trials addressing the benefits and potential harms of breast surgery is ideal to answer this question...
March 15, 2018: Cochrane Database of Systematic Reviews
Sara Ekmark-Lewén, Veronica Lindström, Astrid Gumucio, Elisabeth Ihse, Anish Behere, Philipp J Kahle, Eva Nordström, Maria Eriksson, Anna Erlandsson, Joakim Bergström, Martin Ingelsson
Introduction: Intraneuronal inclusions of alpha-synuclein are commonly found in the brain of patients with Parkinson's disease and other α-synucleinopathies. The correlation between alpha-synuclein pathology and symptoms has been studied in various animal models. In (Thy-1)-h[A30P] alpha-synuclein transgenic mice, behavioral and motor abnormalities were reported from 12 and 15 months, respectively. The aim of this study was to investigate whether these mice also display symptoms at earlier time points...
March 2018: Brain and Behavior
Janki Shah, Jonathon O Russell, Tina Waters, Alan H Kominsky, Douglas Trask
OBJECTIVES: Hypoglossal nerve stimulation (HNS) therapy is an emerging surgical treatment for select patients with obstructive sleep apnea (OSA). This study aims to compare outcomes in patients with moderate to severe OSA who underwent HNS surgery (Inspire Medical Systems) and those who underwent traditional airway reconstructive surgery, specifically uvulopalatopharyngoplasty (UPPP). METHODS: Patients who underwent HNS implantation (n = 20), all with moderate to severe OSA, inability to adhere to positive pressure therapy, and compliant with previously published inclusion criteria, were compared to a historical cohort that were intolerant of CPAP with similar inclusion criteria who all underwent UPPP (n = 20) with some also undergoing additional procedures such as septoplasty/turbinate reduction...
March 2, 2018: American Journal of Otolaryngology
Shelly Popowich, Ashish Gupta, Betty Chow-Lockerbie, Lisanework Ayalew, Neil Ambrose, Davor Ojkic, Thushari Gunawardana, Shanika Kurukulasuriya, Philip Willson, Suresh K Tikoo, Susantha Gomis
Historically, fowl adenovirus (FAdV) associated inclusion body hepatitis (IBH) was considered a secondary disease in broiler chickens associated with immunosuppression. However, we previously reported the occurrence of IBH as a primary disease in the broiler chicken industry in Canada as a result of infections with various FAdV serotypes. Therefore, the objectives of this study were to develop an immunization strategy in broiler breeders using live FAdV 11-1047 and FAdV8a-TR59 to confer homologous and heterologous protection in broiler progeny against IBH and to study the efficacy of natural exposure of naïve broiler breeders to a vaccine virus from live FAdV vaccinated birds as an immunization technique...
March 5, 2018: Research in Veterinary Science
Roshan Kumar, Raniki Kumari, Sanjay Kumar, Deepak Kumar Jangir, Tushar Kanti Maiti
α-Synuclein, a major constituent of proteinaceous inclusions named Lewy body, has been shown to be released and taken up by cells, which may facilitate its progressive pathological spreading and neuronal cell death in Parkinson's disease. However, the pathophysiological effect and signalling cascade initiated by extracellular α-synuclein in cellular milieu are not well understood. Herein we have investigated the perturbations induced by low molecular weight α-synuclein and different types of α-synuclein oligomers in the neuroblastoma SH-SY5Y cells...
March 14, 2018: Biomacromolecules
Mattia Laffranchi, Romina Berardelli, Riccardo Ronzoni, David A Lomas, Annamaria Fra
The most common genotype associated with severe α1-antitrypsin deficiency (AATD) is the Z homozygote. The Z variant (Glu342Lys) of α1-antitrypsin (AAT) undergoes a conformational change and is retained within the endoplasmic reticulum (ER) of hepatocytes leading to the formation of ordered polymeric chains and inclusion bodies. Accumulation of mutated protein predisposes to cirrhosis whilst plasma AAT deficiency leads to emphysema. Increased risk of liver and lung disease has also been reported in heterozygous subjects who carry Z in association with the milder S allele (Glu264Val) or even with wild-type M...
March 10, 2018: Human Molecular Genetics
Ivan Martinez-Valbuena, Irene Amat-Villegas, Rafael Valenti-Azcarate, Maria Del Mar Carmona-Abellan, Irene Marcilla, Maria-Teresa Tuñon, Maria-Rosario Luquin
Parkinson's disease patients experience a wide range of non-motor symptoms that may be provoked by deposits of phosphorylated α-synuclein in the peripheral nervous system. Pre-existing diabetes mellitus might be a risk factor for developing Parkinson's disease, and indeed, nearly 60% of Parkinson's disease patients are insulin resistant. Thus, we have investigated whether phosphorylated α-synuclein is deposited in pancreatic tissue of subjects with synucleinopathies. We studied pancreatic tissue from 39 subjects diagnosed with Parkinson's disease, Lewy body Dementia or incidental Lewy bodies disease, as well as that from 34 subjects with diabetes mellitus and a normal neuropathological examination, and 52 subjects with a normal neuropathological examination...
March 13, 2018: Acta Neuropathologica
Eric J Cotter, Charles P Hannon, Philip Locker, Annabelle Davey, Kevin C Wang, Nikhil N Verma, Brian J Cole
Background: Patient-reported outcome (PRO) surveys have become increasingly important in both improving patient care and assessing outcomes. Purpose/Hypothesis: The purpose of this study was to evaluate which variables are associated with compliance with completing PRO surveys in patients who have undergone anterior cruciate ligament reconstruction (ACLR). The authors hypothesized that older patient age and longer time since ACLR would be associated with lower completion rates of PRO surveys preoperatively and at postoperative time points...
March 2018: Orthopaedic Journal of Sports Medicine
Monicca Leseyane, Peter Mandende, Mary Makgato, Madoda Cekiso
Background: Inclusive education requires that the framework within which education is delivered should be broad enough to accommodate equally the needs and circumstances of every learner in the society. This includes learners with disabilities like dyslexia who have been excluded from the formal education system. This article reports the findings of a qualitative study that explored and described the dyslexic learners' experiences with their peers and teachers in special and public schools in North-West Province of South Africa...
2018: African Journal of Disability
Matthew Tabinor, Emma Elphick, Michael Dudson, Chun Shing Kwok, Mark Lambie, Simon J Davies
Both overhydration and comorbidity predict mortality in end-stage kidney failure (ESKF) but it is not clear whether these are independent of one another. We undertook a systematic review of studies reporting outcomes in adult dialysis patients in which comorbidity and overhydration, quantified by whole body bioimpedance (BI), were reported. PubMed, EMBASE, PsychInfo and the Cochrane trial database were searched (1990-2017). Independent reviewers appraised studies including methodological quality (assessed using QUIPS)...
March 13, 2018: Scientific Reports
Jihong Lee, Sun Haeng Lee, Boram Lee, In Jun Yang, Gyu Tae Chang
BACKGROUND: The aim of this study was to investigate autism spectrum disorder (ASD) clinical practice patterns of Korean medicine doctors (KMDs) through questionnaire survey. METHODS: Questionnaires on Korean medicine (KM) treatment for ASD were distributed to 255 KMDs on December 5, 2016. The KMDs were psychiatrists, pediatricians, or general practitioners, who treated patients with ASD. The questionnaire covered items on treatment methods, aims of treatment, KM syndrome differentiation, diagnostic tools, and sociodemographic characteristics...
March 13, 2018: BMC Complementary and Alternative Medicine
Patrick J Lindsay, Danielle Buell, Damon C Scales
BACKGROUND: Mild therapeutic hypothermia (TH), or targeted temperature management, improves survival and neurological outcomes in patients after out-of-hospital cardiac arrest (OHCA). International guidelines strongly support initiating TH for all eligible individuals presenting with OHCA; however, the timing of cooling initiation remains uncertain. This systematic review and meta-analysis was conducted with all available randomised controlled trials (RCTs) included to explore the efficacy and safety of initiating pre-hospital TH in patients with OHCA...
March 13, 2018: Critical Care: the Official Journal of the Critical Care Forum
Shengwei Zhang, Qi Cheng, Chenxi Luo, Yali Qin, Mingzhou Chen
Human parainfluenza virus type 3 is one of the main causes of lower respiratory illness in newborns and infants. The role of the matrix protein (M) in viral budding is extensively studied, but the effect of M on viral replication remains to be determined. Using an HPIV3 minigenome assay, we found that M reduced HPIV3 mingenome-encoded reporter activity even though it had an unspecific effect on the expression of cellular genes. Furthermore, the inhibition effect of M on viral RNA synthesis was proven to be independent of its virus-like particles (VLPs)' release ability...
March 11, 2018: Viruses
Geneviève Huard, M Isabel Fiel, Jang Moon, Kishore Iyer, Thomas D Schiano
INTRODUCTION: Intestinal failure-associated liver disease (IFALD) occurs commonly in intestinal transplant (ITx) candidates receiving parenteral nutrition (PN). The aim of this study is to establish the prevalence and risk factors for advanced liver fibrosis in adults at the time of ITx. METHODS: Retrospective chart review of all ITx was performed in adults between January 2000 and May 2014. Advanced liver fibrosis was defined as stage 3 or stage 4 fibrosis. RESULTS: Fifty-three patients met the inclusion criteria...
March 13, 2018: JPEN. Journal of Parenteral and Enteral Nutrition
Nika Karimi, Marta Kelava, Perin Kothari, Nicole M Zimmerman, A Marc Gillinov, Andra E Duncan
BACKGROUND: Patients with obstructive sleep apnea (OSA) experience intermittent hypoxia, hypercarbia, and sympathetic activation during sleep, which increases risk for paroxysmal atrial fibrillation and other cardiac arrhythmias. Whether patients with OSA experience increased episodes of atrial fibrillation after cardiac surgery is unclear. We examined whether patients at increased risk for OSA, assessed by the STOP-BANG (snoring, tired during the day, observed stop breathing during sleep, high blood pressure, body mass index more than 35 kg/m, age more than 50 years, neck circumference more than 40 cm, and male gender) questionnaire, had a higher incidence of new-onset postoperative atrial fibrillation after cardiac surgery...
March 12, 2018: Anesthesia and Analgesia
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