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Wilson's disease

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https://www.readbyqxmd.com/read/29054853/british-thoracic-society-guidelines-for-the-management-of-non-tuberculous-mycobacterial-pulmonary-disease-ntm-pd
#1
Charles S Haworth, John Banks, Toby Capstick, Andrew J Fisher, Thomas Gorsuch, Ian F Laurenson, Andrew Leitch, Michael R Loebinger, Heather J Milburn, Mark Nightingale, Peter Ormerod, Delane Shingadia, David Smith, Nuala Whitehead, Robert Wilson, R Andres Floto
No abstract text is available yet for this article.
November 2017: Thorax
https://www.readbyqxmd.com/read/29053178/utility-of-genetics-for-risk-stratification-in-pediatric-hypertrophic-cardiomyopathy
#2
J Mathew, L Zahavich, M Lafreniere-Roula, J Wilson, K George, L Benson, S Bowdin, S Mital
Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life-threatening events. We assessed if affected gene and variant burden predict outcomes. Patients <18 years old with primary HCM with a pathogenic variant or variant of uncertain significance in cardiomyopathy genes were included. Association of gene and variant number and type with freedom from major adverse cardiac events (MACE) i.e. ICD insertion, myectomy, aborted SCD, transplantation or death, was assessed by Cox regression...
October 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29051913/patients-with-dementia-are-easy-victims-to-predators
#3
R C Hamdy, J V Lewis, R Copeland, A Depelteau, A Kinser, T Kendall-Wilson, K Whalen
Patients with dementia, especially Alzheimer's disease and particularly those in early stages, are susceptible to become victims of predators: Their agnosia (see Case 1) prevents them from detecting and accurately interpreting subtle signals that otherwise would have alerted them that they are about to fall for a scam. Furthermore, their judgment is impaired very early in the disease process, often before other symptoms manifest themselves and usually before a diagnosis is made. Patients with early stages of dementia are therefore prime targets for unscrupulous predators, and it behooves caregivers and health care professionals to ensure the integrity of these patients...
January 2017: Gerontology & Geriatric Medicine
https://www.readbyqxmd.com/read/29050651/-movement-disorders-an-update
#4
M Béreau, C Tranchant
Movement disorders (tremor, chorea, dystonia, tics, and myoclonus) are related to basal ganglia and/or interconnected brain areas dysfunction. Clinical examination is a key point in order to characterize the abnormal movement and identify associated signs that can guide etiological approach. Iatrogenic diseases will be systematically ruled out before conducting additional investigations (brain MRI, electrophysiological studies). Wilson disease, but also other treatable metabolic and/or genetic diseases, and auto-immune diseases will be systematically considered...
October 16, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29048517/vertebral-compression-fracture-after-spine-stereotactic-body-radiation-therapy-a-review-of-the-pathophysiology-and-risk-factors
#5
Salman Faruqi, Chia-Lin Tseng, Cari Whyne, Majed Alghamdi, Jefferson Wilson, Sten Myrehaug, Hany Soliman, Young Lee, Pejman Maralani, Victor Yang, Charles Fisher, Arjun Sahgal
BACKGROUND: Vertebral compression fracture (VCF) is a challenging and not infrequent complication observed following spine stereotactic body radiation therapy (SBRT). OBJECTIVE: To summarize the data from the multiple studies that have been published, addressing the risk and predictive factors for VCF post-SBRT. METHODS: A systematic literature review was conducted. Studies were selected if they specifically addressed risk factors for post-SBRT VCF in their analyses...
October 18, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29047347/the-dynamics-of-smoking-related-disturbed-methylation-a-two-time-point-study-of-methylation-change-in-smokers-non-smokers-and-former-smokers
#6
Rory Wilson, Simone Wahl, Liliane Pfeiffer, Cavin K Ward-Caviness, Sonja Kunze, Anja Kretschmer, Eva Reischl, Annette Peters, Christian Gieger, Melanie Waldenberger
BACKGROUND: The evidence for epigenome-wide associations between smoking and DNA methylation continues to grow through cross-sectional studies. However, few large-scale investigations have explored the associations using observations for individuals at multiple time-points. Here, through the use of the Illumina 450K BeadChip and data collected at two time-points separated by approximately 7 years, we investigate changes in methylation over time associated with quitting smoking or remaining a former smoker, and those associated with continued smoking...
October 18, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29044416/disease-and-region-specificity-of-granulin-immunopositivities-in-alzheimer-disease-and-frontotemporal-lobar-degeneration
#7
Qinwen Mao, Dongyang Wang, Yanqing Li, Missia Kohler, Jayson Wilson, Zachary Parton, Bella Shmaltsuyeva, Demirkan Gursel, Rosa Rademakers, Sandra Weintraub, Marek-Marsel Mesulam, Haibin Xia, Eileen H Bigio
Heterozygous loss-of-function mutations in GRN, the progranulin gene, which result in progranulin (PGRN) protein haploinsufficiency, are a major cause of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP). PGRN is composed of seven and a half repeats of a highly conserved granulin motif that is cleaved to produce the granulin peptides A-G and paragranulin. To better understand the role of PGRN and granulin (Grn) peptides in the pathogenesis of neurodegeneration, we evaluated PGRN/Grn in brains of patients with Alzheimer disease, FTLD-TDP type A with or without GRN mutations, and normal individuals, using a panel of monoclonal antibodies against Grn peptides A-G...
November 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29040965/distribution-of-cancer-mortality-rates-by-province-in-south-africa
#8
Felix Made, Kerry Wilson, Ruxana Jina, Nonhlanhla Tlotleng, Samantha Jack, Vusi Ntlebi, Tahira Kootbodien
INTRODUCTION: Cancer mortality rates are expected to increase in developing countries. Cancer mortality rates by province remain largely unreported in South Africa. This study described the 2014 age standardised cancer mortality rates by province in South Africa, to provide insight for strategic interventions and advocacy. METHODS: 2014 deaths data were retrieved from Statistics South Africa. Deaths from cancer were extracted using 10th International Classification of Diseases (ICD) codes for cancer (C00-C97)...
October 14, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/29039931/profiling-cytidine-acetylation-with-specific-affinity-and-reactivity
#9
Wilson R Sinclair, Daniel Arango, Jonathan H Shrimp, Thomas T Zengeya, Justin M Thomas, David C Montgomery, Stephen D Fox, Thorkell Andresson, Shalini Oberdoerffer, Jordan L Meier
The human acetyltransferase NAT10 has recently been shown to catalyze formation of N4-acetylcytidine (ac4C), a minor nucleobase known to alter RNA structure and function. In order to better understand the role of RNA acetyltransferases in biology and disease, here we report the development and application of chemical methods to study ac4C. First, we demonstrate that ac4C can be conjugated to carrier proteins using optimized protocols. Next, we describe methods to access ac4C-containing RNAs, enabling the screening of anti-ac4C antibodies...
October 17, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29037207/trem2-deficiency-exacerbates-tau-pathology-through-dysregulated-kinase-signaling-in-a-mouse-model-of-tauopathy
#10
Shane M Bemiller, Tyler J McCray, Kevin Allan, Shane V Formica, Guixiang Xu, Gina Wilson, Olga N Kokiko-Cochran, Samuel D Crish, Cristian A Lasagna-Reeves, Richard M Ransohoff, Gary E Landreth, Bruce T Lamb
BACKGROUND: Genetic variants of the Triggering Receptor Expressed on Myeloid Cells-2 (TREM2) confer increased risk of developing late-onset Alzheimer's Disease (LOAD) and other neurodegenerative disorders. Recent studies provided insight into the multifaceted roles of TREM2 in regulating extracellular β-amyloid (Aβ) pathology, myeloid cell accumulation, and inflammation observed in AD, yet little is known regarding the role of TREM2 in regulating intracellular microtubule associated protein tau (MAPT; tau) pathology in neurodegenerative diseases and in AD, in particular...
October 16, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29036826/what-can-quantitative-gait-analysis-tell-us-about-dementia-and-its-subtypes-a-structured-review
#11
Ríona Mc Ardle, Rosie Morris, Joanna Wilson, Brook Galna, Alan J Thomas, Lynn Rochester
Distinguishing dementia subtypes can be difficult due to similarities in clinical presentation. There is increasing interest in discrete gait characteristics as markers to aid diagnostic algorithms in dementia. This structured review explores the differences in quantitative gait characteristics between dementia and healthy controls, and between four dementia subtypes under single-task conditions: Alzheimer's disease (AD), dementia with Lewy bodies and Parkinson's disease dementia, and vascular dementia. Twenty-six papers out of an initial 5,211 were reviewed and interpreted using a validated model of gait...
October 7, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29034814/entomophthoromycosis-and-mucormycosis-as-causes-of-pneumonia-in-vietnamese-potbellied-pigs
#12
Dawn E Evans, Atsushi Kawabata, Leslie D Wilson, Kenneth Kim, Shannon D Dehghanpir, Steve D Gaunt, Matt Welborn, Britton Grasperge, Marjorie S Gill
Two Vietnamese potbellied pigs ( Sus scrofa) had respiratory disease and, on autopsy, both pigs had large masses in the lungs and thoracic cavity. Microscopically, pulmonary and pleural masses contained large areas with hyphae surrounded by hypereosinophilic cellular debris rimmed by abundant eosinophils, lymphocytes, plasma cells, and histiocytes with occasional multinucleate giant cells. The hypereosinophilic debris usually formed tight cuffs, or "sleeves" around the hyphae, compatible with Splendore-Hoeppli-like material...
October 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29034473/development-and-maturation-of-the-fibrous-components-of-the-arterial-roots-in-the-mouse-heart
#13
Rachel Richardson, Lorraine Eley, Charlotte Donald-Wilson, Jonathon Davis, Natasha Curley, Ahlam Alqahtani, Lindsay Murphy, Robert H Anderson, Deborah J Henderson, Bill Chaudhry
The arterial roots are important transitional regions of the heart, connecting the intrapericardial components of the aortic and pulmonary trunks with their ventricular outlets. They house the arterial (semilunar) valves and, in the case of the aorta, are the points of coronary arterial attachment. Moreover, because of the semilunar attachments of the valve leaflets, the arterial roots span the anatomic ventriculo-arterial junction. By virtue of this arrangement, the interleaflet triangles, despite being fibrous, are found on the ventricular aspect of the root and located within the left ventricular cavity...
October 15, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/29033779/a-patient-with-nafcillin-associated-drug-induced-liver-failure
#14
Qin Rao, Isaiah Schuster, Talal Seoud, Kevin Zarrabi, Nirvani Goolsarran
Nafcillin-induced acute liver injury is a rare and potentially fatal complication that has been known since the 1960s but inadequately studied. At this time, the only proven treatment is early discontinuation of the drug. Because of the high prevalence of nafcillin class antibiotic use in the United States, it is important for clinicians to have a high clinical suspicion for this diagnosis. We present a case of liver failure attributable to nafcillin use in a 68-year-old male with a history methicillin-sensitive Staphylococcus and L3/L4 osteomyelitis...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29032078/efficacy-and-safety-of-once-monthly-pasireotide-in-cushing-s-disease-a-12-month-clinical-trial
#15
André Lacroix, Feng Gu, Wilson Gallardo, Rosario Pivonello, Yerong Yu, Przemysław Witek, Marco Boscaro, Roberto Salvatori, Masanobu Yamada, Libuse Tauchmanova, Michael Roughton, Shoba Ravichandran, Stephan Petersenn, Beverly M K Biller, John Newell-Price
BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing long-acting intramuscular pasireotide in patients with Cushing's disease. METHODS: In this phase 3 clinical trial we recruited patients aged 18 years or older with persistent, recurrent, or de-novo (non-surgical candidates) Cushing's disease who had a mean urinary free cortisol (mUFC) concentration (from three 24 h samples) of 1·5-5·0 times the upper limit of normal (ULN), a normal or greater than normal morning plasma adrenocorticotropic hormone concentration, and a pituitary source of Cushing's syndrome, from 57 sites across 19 countries...
October 12, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29032069/woman-s-pre-conception-evaluation-genetic-and-fetal-risk-considerations-for-counselling-and-informed-choice
#16
REVIEW
R Douglas Wilson
OBJECTIVE: To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. OPTIONS: This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. OUTCOMES: This information may allow improved risk assessment for pre-conception counselling for individual patients and their families...
October 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29031088/probing-the-correlation-of-neuronal-loss-neurofibrillary-tangles-and-cell-death-markers-across-the-alzheimer-s-disease-braak-stages-a-quantitative-study-in-humans
#17
Panos Theofilas, Alexander J Ehrenberg, Austin Nguy, Julia M Thackrey, Sara Dunlop, Maria B Mejia, Ana T Alho, Renata Elaine Paraizo Leite, Roberta Diehl Rodriguez, Claudia K Suemoto, Camila F Nascimento, Marcus Chin, Daniel Medina-Cleghorn, Ana Maria Cuervo, Michelle Arkin, William W Seeley, Bruce L Miller, Ricardo Nitrini, Carlos Augusto Pasqualucci, Wilson Jacob Filho, Udo Rueb, John Neuhaus, Helmut Heinsen, Lea T Grinberg
Clarifying the mechanisms connecting neurofibrillary tangle (NFT) neurotoxicity to neuronal dysfunction in humans is likely to be pivotal for developing effective treatments for Alzheimer's disease (AD). To model the temporal progression of AD in humans, we used a collection of brains with controls and individuals from each Braak stage to quantitatively investigate the correlation between intraneuronal caspase activation or macroautophagy markers, NFT burden, and neuronal loss, in the dorsal raphe nucleus and locus coeruleus, the earliest vulnerable areas to NFT accumulation...
September 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29030599/genome-wide-meta-analysis-associates-hla-dqa1-drb1-and-lpa-and-lifestyle-factors-with-human-longevity
#18
Peter K Joshi, Nicola Pirastu, Katherine A Kentistou, Krista Fischer, Edith Hofer, Katharina E Schraut, David W Clark, Teresa Nutile, Catriona L K Barnes, Paul R H J Timmers, Xia Shen, Ilaria Gandin, Aaron F McDaid, Thomas Folkmann Hansen, Scott D Gordon, Franco Giulianini, Thibaud S Boutin, Abdel Abdellaoui, Wei Zhao, Carolina Medina-Gomez, Traci M Bartz, Stella Trompet, Leslie A Lange, Laura Raffield, Ashley van der Spek, Tessel E Galesloot, Petroula Proitsi, Lisa R Yanek, Lawrence F Bielak, Antony Payton, Federico Murgia, Maria Pina Concas, Ginevra Biino, Salman M Tajuddin, Ilkka Seppälä, Najaf Amin, Eric Boerwinkle, Anders D Børglum, Archie Campbell, Ellen W Demerath, Ilja Demuth, Jessica D Faul, Ian Ford, Alessandro Gialluisi, Martin Gögele, MariaElisa Graff, Aroon Hingorani, Jouke-Jan Hottenga, David M Hougaard, Mikko A Hurme, M Arfan Ikram, Marja Jylhä, Diana Kuh, Lannie Ligthart, Christina M Lill, Ulman Lindenberger, Thomas Lumley, Reedik Mägi, Pedro Marques-Vidal, Sarah E Medland, Lili Milani, Reka Nagy, William E R Ollier, Patricia A Peyser, Peter P Pramstaller, Paul M Ridker, Fernando Rivadeneira, Daniela Ruggiero, Yasaman Saba, Reinhold Schmidt, Helena Schmidt, P Eline Slagboom, Blair H Smith, Jennifer A Smith, Nona Sotoodehnia, Elisabeth Steinhagen-Thiessen, Frank J A van Rooij, André L Verbeek, Sita H Vermeulen, Peter Vollenweider, Yunpeng Wang, Thomas Werge, John B Whitfield, Alan B Zonderman, Terho Lehtimäki, Michele K Evans, Mario Pirastu, Christian Fuchsberger, Lars Bertram, Neil Pendleton, Sharon L R Kardia, Marina Ciullo, Diane M Becker, Andrew Wong, Bruce M Psaty, Cornelia M van Duijn, James G Wilson, J Wouter Jukema, Lambertus Kiemeney, André G Uitterlinden, Nora Franceschini, Kari E North, David R Weir, Andres Metspalu, Dorret I Boomsma, Caroline Hayward, Daniel Chasman, Nicholas G Martin, Naveed Sattar, Harry Campbell, Tōnu Esko, Zoltán Kutalik, James F Wilson
Genomic analysis of longevity offers the potential to illuminate the biology of human aging. Here, using genome-wide association meta-analysis of 606,059 parents' survival, we discover two regions associated with longevity (HLA-DQA1/DRB1 and LPA). We also validate previous suggestions that APOE, CHRNA3/5, CDKN2A/B, SH2B3 and FOXO3A influence longevity. Next we show that giving up smoking, educational attainment, openness to new experience and high-density lipoprotein (HDL) cholesterol levels are most positively genetically correlated with lifespan while susceptibility to coronary artery disease (CAD), cigarettes smoked per day, lung cancer, insulin resistance and body fat are most negatively correlated...
October 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/29026631/salmonella-typhimurium-gastroenteritis-leading-to-chronic-prosthetic-vascular-graft-infection
#19
Milo Cullinan, Michael Clarke, Tim Dallman, Steven Peart, Deborah Wilson, Daniel Weiand
Introduction. It is estimated up to 6 % of prosthetic vascular grafts become infected. Staphylococcus aureus is predominant in early infection and coagulase-negative staphylococci are predominant in late infections. Enterobacteriaceae cause 14-40 % of prosthetic vascular graft infections. This is, to our knowledge the first reported case of Salmonella gastroenteritis causing chronic prosthetic vascular graft infection (PVGI). Case presentation. A 57 years old lady presented with signs and symptoms of prosthetic vascular graft infection...
August 2017: JMM Case Reports
https://www.readbyqxmd.com/read/29025128/opioid-therapy-for-chronic-pain-overview-of-the-2017%C3%A2-us-department-of-veterans-affairs-and-us-department-of-defense-clinical-practice-guideline
#20
Jack M Rosenberg, Brandon M Bilka, Sara M Wilson, Christopher Spevak
Description: The US Department of Veterans Affairs (VA) and US Department of Defense (DoD) revised the 2010 clinical practice guideline (CPG) for the management of opioid therapy for chronic pain, considering the specific needs of the VA and DoD and new evidence regarding prescribing opioid medication for non-end-of-life-related chronic pain. This paper summarizes the major recommendations and compares them with the US Centers for Disease Control and Prevention (CDC) guideline for prescribing opioids...
September 1, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
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