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Wilsons disease

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https://www.readbyqxmd.com/read/28108637/tomm40-523-variant-and-cognitive-decline-in-older-persons-with-apoe-%C3%AE%C2%B53-3-genotype
#1
Lei Yu, Michael W Lutz, Robert S Wilson, Daniel K Burns, Allen D Roses, Ann M Saunders, Chris Gaiteri, Philip L De Jager, Lisa L Barnes, David A Bennett
OBJECTIVE: To interrogate a poly-T variant (rs10524523, '523) in TOMM40, a gene adjacent to the APOE gene on chromosome 19, in older persons with APOE ε3/3 homozygosity for association with cognitive decline, the clinical hallmark of Alzheimer disease (AD). METHODS: Data came from participants in 2 cohort studies of aging and dementia who underwent annual clinical evaluations for up to 21 years. APOE and TOMM40'523 genotypes were determined from DNA from blood or brain samples...
January 20, 2017: Neurology
https://www.readbyqxmd.com/read/28108129/cardiovascular-impact-in-patients-undergoing-maintenance-hemodialysis-clinical-management-considerations
#2
REVIEW
Srisakul Chirakarnjanakorn, Sankar D Navaneethan, Gary S Francis, W H Wilson Tang
Patients undergoing maintenance hemodialysis develop both structural and functional cardiovascular abnormalities. Despite improvement of dialysis technology, cardiovascular mortality of this population remains high. The pathophysiological mechanisms of these changes are complex and not well understood. It has been postulated that several non-traditional, uremic-related risk factors, especially the long-term uremic state, which may affect the cardiovascular system. There are many cardiovascular changes that occur in chronic kidney disease including left ventricular hypertrophy, myocardial fibrosis, microvascular disease, accelerated atherosclerosis and arteriosclerosis...
January 4, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28107887/associations-between-positive-emotional-well-being-and-stress-induced-myocardial-ischemia-well-being-scores-predict-exercise-induced-ischemia
#3
Jacob P Feigal, Stephen H Boyle, Zainab Samad, Eric J Velazquez, Jennifer L Wilson, Richard C Becker, Redford B Williams, Cynthia M Kuhn, Thomas L Ortel, Joseph G Rogers, Christopher M O'Connor, Wei Jiang
OBJECTIVE: Depressive symptoms have been associated with myocardial ischemia induced by mental (MSIMI) and exercise (ESIMI) stress in clinically stable ischemic heart disease (IHD) patients, but the association between positive emotions and inducible ischemia is less well characterized. The objective of this study was to examine the associations between ratings of well-being and stress-induced ischemia. METHODS: Subjects were adult patients with documented IHD underwent mental and exercise stress testing for the Responses of Myocardial Ischemia to Escitalopram Treatment (REMIT) trial...
February 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28106732/familial-lung-cancer-a-brief-history-from-the-earliest-work-to-the-most-recent-studies
#4
REVIEW
Anthony M Musolf, Claire L Simpson, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y Kupert, Marshall W Anderson, Ann G Schwartz, Susan M Pinney, Christopher I Amos, Joan E Bailey-Wilson
Lung cancer is the deadliest cancer in the United States, killing roughly one of four cancer patients in 2016. While it is well-established that lung cancer is caused primarily by environmental effects (particularly tobacco smoking), there is evidence for genetic susceptibility. Lung cancer has been shown to aggregate in families, and segregation analyses have hypothesized a major susceptibility locus for the disease. Genetic association studies have provided strong evidence for common risk variants of small-to-moderate effect...
January 17, 2017: Genes
https://www.readbyqxmd.com/read/28105634/does-radiologic-response-correlate-to-pathologic-response-in-patients-undergoing-neoadjuvant-therapy-for-borderline-resectable-pancreatic-malignancy
#5
Brent T Xia, Baojin Fu, Jiang Wang, Young Kim, S Ameen Ahmad, Vikrom K Dhar, Nick C Levinsky, Dennis J Hanseman, David A Habib, Gregory C Wilson, Milton Smith, Olugbenga O Olowokure, Jordan Kharofa, Ali H Al Humaidi, Kyuran A Choe, Daniel E Abbott, Syed A Ahmad
BACKGROUND AND OBJECTIVES: In patients with borderline resectable pancreas cancers, clinicians frequently consider radiographic response as the primary driver of whether patients should be offered surgical intervention following neoadjuvant therapy (NT). We sought to determine any correlation between radiographic and pathologic response rates following NT. METHODS: Between 2005 and 2015, 38 patients at a tertiary care referral center underwent NT followed by pancreaticoduodenectomy for borderline resectable pancreas cancer...
January 20, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28102486/atypical-teratoid-rhabdoid-tumor-in-the-first-year-of-life-the-canadian-atrt-registry-experience-and-review-of-the-literature
#6
Mary Fossey, Haocheng Li, Samina Afzal, Anne-Sophie Carret, David D Eisenstat, Adam Fleming, Juliette Hukin, Cynthia Hawkins, Nada Jabado, Donna Johnston, Tania Brown, Valerie Larouche, Katrin Scheinemann, Douglas Strother, Beverly Wilson, Shayna Zelcer, Annie Huang, Eric Bouffet, Lucie Lafay-Cousin
While 2/3 of patients with ATRT are less than 3 years at diagnosis, the literature suggests younger children present with more aggressive disease and poorer outcome. However, little data exist on characteristics and outcome of patients diagnosed with ATRT in the first year of life. In particular, it is unclear whether they access similar treatments as do older children. We compared the cohort of patients ≤12 months from the Canadian ATRT registry to all cases extracted from the literature reported between 1996 and 2014 to describe their clinical and treatment characteristics, and potential prognostic factors...
January 19, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28100680/th22-cells-form-a-distinct-th-lineage-from-th17-cells-in-vitro-with-unique-transcriptional-properties-and-tbet-dependent-th1-plasticity
#7
Maximilian W Plank, Gerard E Kaiko, Steven Maltby, Jessica Weaver, Hock L Tay, Wei Shen, Mark S Wilson, Scott K Durum, Paul S Foster
Th22 cells are a major source of IL-22 and have been found at sites of infection and in a range of inflammatory diseases. However, their molecular characteristics and functional roles remain largely unknown because of our inability to generate and isolate pure populations. We developed a novel Th22 differentiation assay and generated dual IL-22/IL-17A reporter mice to isolate and compare pure populations of cultured Th22 and Th17 cells. Il17a fate-mapping and transcriptional profiling provide evidence that these Th22 cells have never expressed IL-17A, suggesting that they are potentially a distinct cell lineage from Th17 cells under in vitro culture conditions...
January 18, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28099566/wilson-s-disease-the-60th-anniversary-of-walshe-s-article-on-treatment-with-penicillamine
#8
Hélio A G Teive, Egberto Reis Barbosa, Andrew J Lees
This historical review describes Professor Walshe's seminal contribution to the treatment of Wilson's disease on the 60th anniversary of his pioneering article on penicillamine, the first effective treatment for the condition.
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28097080/immunoglobulin-m-nephropathy-in-a-patient-with-wilson-s-disease
#9
Zain Ul Abideen, Zoya Sajjad, Asna Haroon Khan, Nadira Mamoon, Muhammad Bilal, Khaja Hameeduddin Mujtaba Quadri
Immunoglobulin M nephropathy (IgMN) is characterized by the deposition of immunoglobulin M in a dominant distribution in the renal glomeruli. Primary immunoglobulin M nephropathy is diagnosed after consistent light microscopy (LM), immunofluorescence (IF), electron microscopy (EM) results, and exclusion of known systemic disorders causing immunoglobulin M deposition in the glomeruli. The secondary disease has been reported with a few conditions though it has never been reported with any primary disease of the liver...
December 13, 2016: Curēus
https://www.readbyqxmd.com/read/28096696/tidal-breathing-patterns-derived-from-structured-light-plethysmography-in-copd-patients-compared-with-healthy-subjects
#10
Shayan Motamedi-Fakhr, Rachel C Wilson, Richard Iles
PURPOSE: Differences in tidal breathing patterns have been reported between patients with chronic obstructive pulmonary disease (COPD) and healthy individuals using traditional measurement techniques. This feasibility study examined whether structured light plethysmography (SLP) - a noncontact, light-based technique - could also detect differences in tidal breathing patterns between patients with COPD and healthy subjects. PATIENTS AND METHODS: A 5 min period of tidal (quiet) breathing was recorded in each patient with COPD (n=31) and each healthy subject (n=31), matched for age, body mass index, and sex...
2017: Medical Devices: Evidence and Research
https://www.readbyqxmd.com/read/28096483/the-gut-microbiome-of-the-vector-lutzomyia-longipalpis-is-essential-for-survival-of-leishmania-infantum
#11
Patrick H Kelly, Sarah M Bahr, Tiago D Serafim, Nadim J Ajami, Joseph F Petrosino, Claudio Meneses, John R Kirby, Jesus G Valenzuela, Shaden Kamhawi, Mary E Wilson
: The vector-borne disease leishmaniasis, caused by Leishmania species protozoa, is transmitted to humans by phlebotomine sand flies. Development of Leishmania to infective metacyclic promastigotes in the insect gut, a process termed metacyclogenesis, is an essential prerequisite for transmission. Based on the hypothesis that vector gut microbiota influence the development of virulent parasites, we sequenced midgut microbiomes in the sand fly Lutzomyia longipalpis with or without Leishmania infantum infection...
January 17, 2017: MBio
https://www.readbyqxmd.com/read/28096457/the-predictive-value-of-serum-s100a9-and-response-to-etanercept-is-not-confirmed-in-a-large-uk-rheumatoid-arthritis-cohort
#12
Samantha Louise Smith, Darren Plant, Stephen Eyre, Kimme Hyrich, Ann W Morgan, Anthony G Wilson, John D Isaacs, Anne Barton
OBJECTIVE: The aim was to correlate protein concentrations of S100A9 in pretreatment serum samples with response to the tumour-necrosis factor (TNF) inhibitor drugs etanercept in a large UK replication cohort. METHODS: Pretreatment serum samples from patients with RA (n = 236) about to commence treatment with etanercept had S100A9 serum concentration measured using an ELISA. Following the experimental procedure, S100A9 concentrations were analysed with respect to EULAR response...
January 16, 2017: Rheumatology
https://www.readbyqxmd.com/read/28095376/review-of-decision-making-in-game-tasks-in-elderly-participants-with-alzheimer-disease-and-mild-cognitive-impairment
#13
Alaise Silva Santos de Siqueira, Juliana Emy Yokomizo, Wilson Jacob-Filho, Mônica Sanches Yassuda, Ivan Aprahamian
BACKGROUND: Changes in decision-making (DM) have recently been investigated in patients with Alzheimer disease (AD) or mild cognitive impairment (MCI). DM is highly relevant to everyday functioning and autonomy. It relies on several cognitive abilities, such as semantic and episodic memory, as well as aspects of executive functioning. We conducted a systematic review of DM in older adults with MCI and AD. SUMMARY: Only 5 studies whose main objective was to evaluate the DM performance were selected...
January 18, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28094084/incontinence-and-psychological-symptoms-in-individuals-with-mowat-wilson-syndrome
#14
Justine Niemczyk, Stewart Einfeld, David Mowat, Monika Equit, Catharina Wagner, Leopold Curfs, Alexander von Gontard
BACKGROUND: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR). Most individuals have a sociable demeanor, but one third show psychological problems. AIMS: The aim was to investigate incontinence and psychological problems in MWS. METHODS AND PROCEDURES: 26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18years) were recruited through a MWS support group...
January 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28090282/traceless-solid-phase-%C3%AE-hydroxytropolone-synthesis
#15
Michael P D'Erasmo, Takashi Masaoka, Jennifer A Wilson, Errol M Hunte, John A Beutler, Stuart F J Le Grice, Ryan P Murelli
α-Hydroxytropolones are established inhibitors of several therapeutically relevant binuclear metalloenzymes, and thus lead drug targets for various human diseases. We have leveraged a recently-disclosed three-component oxidopyrylium cycloaddition in the first solid-phase synthesis of α-hydroxytropolones. We also showed that, while minor impurities exist after cleavage and aqueous wash, the semi-crude products display activity in HIV RT-associated RNaseH enzymatic and cell-based assays consistent with pure molecules made in solution phase...
September 1, 2016: MedChemComm
https://www.readbyqxmd.com/read/28088491/toxicogenetic-study-of-persea-americana-fruit-pulp-oil-and-its-effect-on-genomic-instability
#16
Heloiza Diniz Nicolella, Francisco Rinaldi Neto, Mariana Beltrame Corrêa, Danillo Henrique Lopes, Edilaura Nunes Rondon, Luiz Felipe Ribeiro Dos Santos, Pollyanna Francielli de Oliveira, Jaqueline Lopes Damasceno, Nathália Oliveira Acésio, Izabel Cristina Casanova Turatti, Marcos Gomide Tozatti, Wilson Roberto Cunha, Ricardo Andrade Furtado, Denise Crispim Tavares
Persea americana Mill., commonly known as avocado, is a tree native to Central America that is widely used as a food source and for the treatment of diseases. This plant has various biological properties such as analgesic, anti-inflammatory and total cholesterol-lowering activity. In view of its pharmacological potential, we conducted a toxicogenetic study of the fruit pulp oil of P. americana (PAO) and investigated its influence on genotoxicity induced by methyl methanesulfonate (MMS) and doxorubicin. V79 cells and Swiss mice were used for the assays...
January 11, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28088355/kir-genes-and-hla-class-i-ligands-in-a-caucasian-brazilian-population-with-colorectal-cancer
#17
Pâmela Portela, Joice Merzoni, Juliana D Lindenau, Daniel C Damin, Timothy John Wilson, Rafael Roesler, Gilberto Schwartsmann, Luiz Mariana Fernando Jobim Jobim
Colorectal cancer (CRC) can occur anywhere in the colon or rectum and represents the third most common cancer in the world in both sexes. Natural killer cells (NK) are part of the innate immune system recognizing class I HLA molecules on target cells through their membrane receptors, called killer cell immunoglobulin-like receptors (KIR). The aim of our study was to evaluate the association between the KIR genes and HLA ligands in patients with colorectal cancer and healthy controls. We examined the polymorphism of 16 KIR genes and their HLA ligands in 154 caucasoid CRC patients and 216 controls...
January 11, 2017: Human Immunology
https://www.readbyqxmd.com/read/28088064/improved-cognition-while-cycling-in-parkinson-s-disease-patients-and-healthy-adults
#18
Audrey A Hazamy, Lori J P Altmann, Elizabeth Stegemöller, Dawn Bowers, Hyo Keun Lee, Jonathan Wilson, Michael S Okun, Chris J Hass
Persons with Parkinson's disease (PD) are typically more susceptible than healthy adults to impaired performance when two tasks (dual task interference) are performed simultaneously. This limitation has by many experts been attributed to limitations in cognitive resources. Nearly all studies of dual task performance in PD employ walking or balance-based motor tasks, which are commonly impaired in PD. These tasks can be performed using a combination of one or two executive function tasks. The current study examined whether persons with PD would demonstrate greater dual task effects (DTEs) on cognition compared to healthy older adults (HOAs) during a concurrent cycling task...
January 11, 2017: Brain and Cognition
https://www.readbyqxmd.com/read/28087828/tdp-43-pathology-and-memory-impairment-in-elders-without-pathologic-diagnoses-of-ad-or-ftld
#19
Sukriti Nag, Lei Yu, Robert S Wilson, Er-Yun Chen, David A Bennett, Julie A Schneider
OBJECTIVE: To investigate the association of TAR DNA-binding protein 43 (TDP-43) pathology with memory, other cognitive domains, and dementia in community-dwelling elders without pathologic diagnoses of Alzheimer disease (AD) or frontotemporal lobar degeneration (FTLD). METHODS: Of 1,058 autopsied participants, 343 (32.4%) did not have pathologic diagnoses of AD or FTLD. Diagnosis of dementia was based on clinical evaluation and cognitive performance tests, which were used to create summary measures of global cognition and of 5 cognitive domains...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28079846/patient-confidence-and-quality-of-life-in-idiopathic-pulmonary-fibrosis-and-sarcoidosis
#20
Jalpa Kotecha, Christopher Atkins, Andrew Wilson
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) and sarcoidosis impact significantly on health-related quality of life (HRQOL). There are few studies on the impact of patient confidence on HRQOL in these conditions. OBJECTIVES: 1. To investigate whether patient confidence is associated with HRQOL, anxiety, depression, dyspnoea or fatigue. 2. To assess if patient confidence is associated with inpatient admissions, access to community healthcare and, for IPF patients, mortality and disease severity...
December 23, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
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