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https://www.readbyqxmd.com/read/29778908/mammalian-target-of-rapamycin-complex-2-signaling-in-obese-women-changes-after-bariatric-surgery
#1
Marcela Augusta de Souza Pinhel, Carolina Ferreira Nicoletti, Natalia Yumi Noronha, Bruno Affonso Parenti de Oliveira, Cristiana Cortes-Oliveira, Wilson Salgado, Wilson Araujo da Silva, Doroteia Rossi Silva Souza, Julio Sergio Marchini, Carla Barbosa Nonino
OBJECTIVES: After bariatric surgery, modifications to signaling pathway networks including those of the metabolic regulator called mammalian or mechanistic target of rapamycin (mTOR) may lead to molecular alterations related to energy source availability, systemic nutrients, and catabolic and anabolic cellular processes. This study aimed to identify gene expression changes with regard to the mTOR complex 2 subunit signaling pathway in obese patients before and after bariatric surgery...
March 21, 2018: Nutrition
https://www.readbyqxmd.com/read/29778900/hereditary-sensory-neuropathy-type-1-associated-deoxysphingolipids-cause-neurotoxicity-acute-calcium-handling-abnormalities-and-mitochondrial-dysfunction-in-vitro
#2
Emma R Wilson, Umaiyal Kugathasan, Andrey Y Abramov, Alex J Clark, David L H Bennett, Mary M Reilly, Linda Greensmith, Bernadett Kalmar
Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT). SPT catalyzes the first step of de novo sphingolipid synthesis. Mutations in SPT result in a change in enzyme substrate specificity, which causes the production of atypical deoxysphinganine and deoxymethylsphinganine, rather than the normal enzyme product, sphinganine. Levels of these abnormal compounds are elevated in blood of HSN-1 patients and this is thought to cause the peripheral motor and sensory nerve damage that is characteristic of the disease, by a largely unresolved mechanism...
May 17, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29778365/cerebral-microbleeds-and-intracranial-haemorrhage-risk-in-patients-anticoagulated-for-atrial-fibrillation-after-acute-ischaemic-stroke-or-transient-ischaemic-attack-cromis-2-a-multicentre-observational-cohort-study
#3
Duncan Wilson, Gareth Ambler, Clare Shakeshaft, Martin M Brown, Andreas Charidimou, Rustam Al-Shahi Salman, Gregory Y H Lip, Hannah Cohen, Gargi Banerjee, Henry Houlden, Mark J White, Tarek A Yousry, Kirsty Harkness, Enrico Flossmann, Nigel Smyth, Louise J Shaw, Elizabeth Warburton, Keith W Muir, Hans Rolf Jäger, David J Werring
BACKGROUND: Cerebral microbleeds are a potential neuroimaging biomarker of cerebral small vessel diseases that are prone to intracranial bleeding. We aimed to determine whether presence of cerebral microbleeds can identify patients at high risk of symptomatic intracranial haemorrhage when anticoagulated for atrial fibrillation after recent ischaemic stroke or transient ischaemic attack. METHODS: Our observational, multicentre, prospective inception cohort study recruited adults aged 18 years or older from 79 hospitals in the UK and one in the Netherlands with atrial fibrillation and recent acute ischaemic stroke or transient ischaemic attack, treated with a vitamin K antagonist or direct oral anticoagulant, and followed up for 24 months using general practitioner and patient postal questionnaires, telephone interviews, hospital visits, and National Health Service digital data on hospital admissions or death...
June 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29775825/binding-capacity-of-mannose-binding-lectin-mbl-is-associated-with-the-severity-of-chronic-chagas-cardiomyopathy
#4
Elisa de A N Azevedo, Silvana Barreto, Raul Emídio de Lima, Romero Henrique Teixeira, George Diniz, Wilson Oliveira, Maria da Glória A M Cavalcanti, Yara M Gomes, Patrícia M M de F Moura, Clarice N L Morais
Chagas disease (CD) is a global problem. Currently, it affects approximately 15 million individuals in Latin America. It is well know that the human immune response is related to different clinical manifestations. Mannose binding lectin (MBL) plays an important role in innate immunity, and it mediates the phagocytosis and complement-mediated destruction of pathogens. The binding capacity is enhanced by the oligomerization of MBL. In this study, we evaluated the serum concentration and the binding capacity of MBL in patients with chronic chagasic cardiomyopathy...
May 15, 2018: Parasitology International
https://www.readbyqxmd.com/read/29772817/computational-convolution-of-seldi-data-for-the-diagnosis-of-alzheimer-s-disease
#5
Destiny E O Anyaiwe, Gautam B Singh, George D Wilson, Timothy J Geddes
Alzheimer's disease is rapidly becoming an endemic for people over the age of 65. A vital path towards reversing this ominous trend is the building of reliable diagnostic devices for definite and early diagnoses in lieu of the longitudinal, usually inconclusive and non-generalize-able methods currently in use. In this article, we present a survey of methods for mining pools of mass spectrometer saliva data in relation to diagnosing Alzheimer's disease. The computational methods provides new approaches for appropriately gleaning latent information from mass spectra data...
May 17, 2018: High-throughput
https://www.readbyqxmd.com/read/29772801/ogt-o-glcnac-transferase-selectively-modifies-multiple-residues-unique-to-lamin-a
#6
Dan N Simon, Amanda Wriston, Qiong Fan, Jeffrey Shabanowitz, Alyssa Florwick, Tejas Dharmaraj, Sherket B Peterson, Yosef Gruenbaum, Cathrine R Carlson, Line M Grønning-Wang, Donald F Hunt, Katherine L Wilson
The LMNA gene encodes lamins A and C with key roles in nuclear structure, signaling, gene regulation, and genome integrity. Mutations in LMNA cause over 12 diseases ('laminopathies'). Lamins A and C are identical for their first 566 residues. However, they form separate filaments in vivo, with apparently distinct roles. We report that lamin A is β- O -linked N -acetylglucosamine- (O -GlcNAc)-modified in human hepatoma (Huh7) cells and in mouse liver. In vitro assays with purified O -GlcNAc transferase (OGT) enzyme showed robust O -GlcNAcylation of recombinant mature lamin A tails (residues 385⁻646), with no detectable modification of lamin B1, lamin C, or 'progerin' (Δ50) tails...
May 17, 2018: Cells
https://www.readbyqxmd.com/read/29771808/predicting-survival-after-cytoreductive-surgery-and-hyperthermic-intraperitoneal-chemotherapy-for-appendix-adenocarcinoma
#7
Omer Aziz, Ihab Jaradat, Bipasha Chakrabarty, Chelliah R Selvasekar, Paul E Fulford, Mark P Saunders, Andrew G Renehan, Malcolm S Wilson, Sarah T O'Dwyer
BACKGROUND: Appendix adenocarcinomas are rare tumors with propensity for peritoneal metastasis. Cytoreductive surgery with hyperthermic intraperitoneal chemotherapy is an established treatment with curative intent, but, to date, studies reporting survival have been heterogeneous with regard to their patient groups (including other tumor types), interventions (not all patients receiving intraperitoneal chemotherapy), and follow-up (varying surveillance protocols). OBJECTIVE: The aim of this study is to quantify the impact of this intervention on survival in a homogeneous group of patients with appendix adenocarcinoma receiving standardized treatment and follow-up, and to determine the impact of prognostic indicators on survival...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29771541/plasmodial-kinase-inhibitors-license-to-cure
#8
Diego Gonzalez Cabrera, André Horatscheck, Colin Rylott Wilson, Gregory S Basarab, Charles J Eyermann, Kelly Chibale
Advances in the genetics, function and stage-specificity of Plasmodium kinases has driven robust efforts to identify targets for the design of antimalarial therapies. Reverse genomics following phenotypic screening against Plasmodia or related parasites has uncovered vulnerable kinase targets including PI4K, PKG and GSK-3, an approach bolstered by access to human disease-directed kinase libraries. Alternatively, screening compound libraries against Plasmodium kinases has successfully led to inhibitors with antiplasmodial activity...
May 17, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29768622/single-nucleotide-polymorphisms-of-cytokine-related-genes-and-association-with-clinical-outcome-in-a-chagas-disease-case-control-study-from-brazil
#9
Lucia Elena Alvarado-Arnez, Angelica Martins Batista, Silvia Marinho Alves, Gloria Melo, Virgínia Maria Barros de Lorena, Cynthia C Cardoso, Isabela Resende Pereira, Cristina Carrazzone, Antonio G Pacheco, Wilson Oliveira, Milton Ozório Moraes, Joseli Lannes-Vieira
BACKGROUND: The severity of chronic chagasic cardiomyopathy (CCC), the most frequent clinical outcome of Chagas disease (CD), has been associated with cytokine-enriched heart tissue inflammation, and high serum levels of transforming growth factor (TGFβ), interferon-gamma (IFNγ), and tumour necrosis factor (TNF). Conversely, increased interleukin (IL)-10 serum concentrations have been associated with asymptomatic CD. Cytokines and cytokine-related gene polymorphisms may control cytokine expression and have been proposed to contribute to CCC outcomes...
May 14, 2018: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/29768321/anesthetic-management-of-cesarean-delivery-for-a-parturient-with-wilson-s-disease-a-case-report
#10
Yantong Wan, Xiaoqin Jiang, Xuemei Lin
RATIONALE: Wilson's disease (WD), or hepatolenticular degeneration, is an autosomal recessive disorder with a prevalence of 1:50,000 to 1:100,000 live births. PATIENT CONCERNS: A 26-year-old primipara with WD was admitted to our hospital, due to awaiting delivery. Her main symptoms were slightly higher total bile acid (TBA) and bilateral depressed edema of lower limbs. DIAGNOSIS: She was at 38 weeks and 4 days of gestation with a 15-year history of WD, controlled with penicillamine in the past and replaced by zinc preparations from three months before pregnancy...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766968/cortical-hyperintensities-a-rare-magnetic-resonance-imaging-finding-in-wilson-s-disease
#11
Rajesh Verma, Soumik Sarkar, Anirudda More
No abstract text is available yet for this article.
May 2018: Neurology India
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#12
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29763485/what-s-eating-you-ixodes-tick-and-related-diseases-part-2-diagnosis-and-treatment-of-regional-tick-borne-diseases
#13
Kelsey D Wilson, Dirk M Elston
The Ixodes tick is an important arthropod vector in the transmission of human disease. Although Lyme disease is the most prevalent zoonosis transmitted by Ixodes ticks, other less common diseases may be encountered, including human granulocytic anaplasmosis, babesiosis, Powassan virus infection, tick-borne encephalitis, Borrelia miyamotoi disease, and tick paralysis. In part 2 of this review, disease presentation, diagnosis, and treatment of these less commonly encountered tick-borne diseases are discussed.
April 2018: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29762107/musculoskeletal-manifestations-of-amyloidosis-a-focused-review
#14
Thomas X Nguyen, Abbas Naqvi, Terry L Thompson, Robert H Wilson
Amyloidosis is a poorly understood condition that can wreak havoc on numerous systems within the human body. In addition, this disease can present in multiple forms which each have their own unique physiology and subsequent effects. However, while the literature on the etiology and effect of amyloidosis on various organ systems is numerous, few have highlighted the musculoskeletal manifestations of this devastating disease. This review focuses on the recent research on amyloid deposition in the musculoskeletal system...
2018: Journal of Surgical Orthopaedic Advances
https://www.readbyqxmd.com/read/29761126/seronegative-antibody-mediated-neurology-after-immune-checkpoint-inhibitors
#15
Robert Wilson, David A Menassa, Alexander J Davies, Sophia Michael, Joanna Hester, Wilhelm Kuker, Graham P Collins, Judith Cossins, David Beeson, Neil Steven, Paul Maddison, Simon Rinaldi, Saiju Jacob, Sarosh R Irani
Checkpoint inhibitor medications have revolutionized oncology practice, but frequently induce immune-related adverse events. During autoimmune neurology practice over 20 months, we prospectively identified four patients with likely antibody-mediated neurological diseases after checkpoint inhibitors: longitudinally extensive transverse myelitis, Guillain-Barré syndrome, and myasthenia gravis. All patients shared three characteristics: symptoms commenced 4 weeks after drug administration, responses to conventional immunotherapies were excellent, and autoantibodies traditionally associated with their syndrome were absent...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761093/functional-characterization-of-novel-atp7b-variants-for-diagnosis-of-wilson-disease
#16
Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H Schmidt
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease. Methods: The medical history, clinical presentation, biochemical parameters, and the genetic analysis of ATP7B were determined...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29761003/the-asymmetry-of-neural-symptoms-in-wilson-s-disease-patients-detecting-by-diffusion-tensor-imaging-resting-state-functional-mri-and-susceptibility-weighted-imaging
#17
Xiang-Xue Zhou, Xun-Hua Li, Ding-Bang Chen, Chao Wu, Li Feng, Jian-Ping Chu, Zhi-Yun Yang, Xin-Bei Li, Haolin Qin, Gui-Dian Li, Hai-Wei Huang, Ying-Ying Liang, Xiu-Ling Liang
Objective: To investigate the cause of the motor asymmetry in Wilson's disease (WD) patients using functional MRI. Methods: Fifty patients with WD and 20 age-matched healthy controls were enrolled. Neurological symptoms were scored using the modified Young Scale. All study subjects underwent diffusion tensor imaging (DTI), susceptibility-weighted imaging (SWI), and resting-state functional MRI (rs-fMRI) of the brain. Six regions of interest (ROI) were chosen. Fiber volumes between ROIs on DTI, corrected phase (CP) values on SWI, amplitude of low-frequency fluctuation (ALFF), and regional homogeneity (REHO) values on rs-fMRI were determined...
May 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#18
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29759592/ccdc115-cdg-a-new-rare-and-misleading-inherited-cause-of-liver-disease
#19
Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel
Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement...
May 9, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29759558/the-influence-of-genetic-variation-on-late-toxicities-in-childhood-cancer-survivors-a-review
#20
REVIEW
E Clemens, A L F van der Kooi, L Broer, E van Dulmen-den Broeder, H Visscher, L Kremer, W Tissing, J Loonen, C M Ronckers, S M F Pluijm, S J C M M Neggers, O Zolk, T Langer, A Am Zehnhoff-Dinnesen, C L Wilson, M M Hudson, B Carleton, J S E Laven, A G Uitterlinden, M M van den Heuvel-Eibrink
INTRODUCTION: The variability in late toxicities among childhood cancer survivors (CCS) is only partially explained by treatment and baseline patient characteristics. Inter-individual variability in the association between treatment exposure and risk of late toxicity suggests that genetic variation possibly modifies this association. We reviewed the available literature on genetic susceptibility of late toxicity after childhood cancer treatment related to components of metabolic syndrome, bone mineral density, gonadal impairment and hearing impairment...
June 2018: Critical Reviews in Oncology/hematology
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