keyword
MENU ▼
Read by QxMD icon Read
search

Wilson's disease

keyword
https://www.readbyqxmd.com/read/29222464/the-irish-dna-atlas-revealing-fine-scale-population-structure-and-history-within-ireland
#1
Edmund Gilbert, Seamus O'Reilly, Michael Merrigan, Darren McGettigan, Anne M Molloy, Lawrence C Brody, Walter Bodmer, Katarzyna Hutnik, Sean Ennis, Daniel J Lawson, James F Wilson, Gianpiero L Cavalleri
The extent of population structure within Ireland is largely unknown, as is the impact of historical migrations. Here we illustrate fine-scale genetic structure across Ireland that follows geographic boundaries and present evidence of admixture events into Ireland. Utilising the 'Irish DNA Atlas', a cohort (n = 194) of Irish individuals with four generations of ancestry linked to specific regions in Ireland, in combination with 2,039 individuals from the Peoples of the British Isles dataset, we show that the Irish population can be divided in 10 distinct geographically stratified genetic clusters; seven of 'Gaelic' Irish ancestry, and three of shared Irish-British ancestry...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29221444/genome-wide-association-study-of-coronary-artery-calcified-atherosclerotic-plaque-in-african-americans-with-type-2-diabetes
#2
Jasmin Divers, Nicholette D Palmer, Carl D Langefeld, W Mark Brown, Lingyi Lu, Pamela J Hicks, S Carrie Smith, Jianzhao Xu, James G Terry, Thomas C Register, Lynne E Wagenknecht, John S Parks, Lijun Ma, Gary C Chan, Sarah G Buxbaum, Adolfo Correa, Solomon Musani, James G Wilson, Herman A Taylor, Donald W Bowden, John Jeffrey Carr, Barry I Freedman
BACKGROUND: Coronary artery calcified atherosclerotic plaque (CAC) predicts cardiovascular disease (CVD). Despite exposure to more severe conventional CVD risk factors, African Americans (AAs) are less likely to develop CAC, and when they do, have markedly lower levels than European Americans. Genetic factors likely contribute to the observed ethnic differences. To identify genes associated with CAC in AAs with type 2 diabetes (T2D), a genome-wide association study (GWAS) was performed using the Illumina 5 M chip in 691 African American-Diabetes Heart Study participants (AA-DHS), with replication in 205 Jackson Heart Study (JHS) participants with T2D...
December 8, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29220408/comparison-of-goto-kakizaki-rats-and-high-fat-diet-induced-obese-rats-are-they-reliable-models-to-study-type-2-diabetes-mellitus
#3
Wilson Mitsuo Tatagiba Kuwabara, Ana Carolina Panveloski-Costa, Caroline Naomi Fukusawa Yokota, Joice Naiara Bertaglia Pereira, Jorge Mancini Filho, Rosangela Pavan Torres, Sandro Massao Hirabara, Rui Curi, Tatiana Carolina Alba-Loureiro
Type 2 Diabetes mellitus (T2DM) is an evident growing disease that affects different cultures throughout the world. T2DM occurs under the influence of three main factors: the genetic background, environmental and behavioral components. Obesity is strongly associated to the development of T2DM in the occident, while in the orient most of the diabetic patients are considered lean. Genetics may be a key factor in the development of T2DM in societies where obesity is not a recurrent public health problem. Herein, two different models of rats were used to understand their differences and reliability as experimental models to study the pathophysiology of T2DM, in two different approaches: the genetic (GK rats) and the environmental (HFD-induced obese rats) influences...
2017: PloS One
https://www.readbyqxmd.com/read/29218971/an-evaluation-of-medication-reconciliation-in-an-outpatient-nephrology-clinic
#4
Matthew Phillips, Jo-Anne Wilson, Amany Aly, Marsha Wood, Penelope Poyah, Sarah Drost, Anne Hiltz, Holly Carver
Background: Accreditation Canada recognizes medication reconciliation as a key required organizational practice (ROP) to enhance patient safety. Patients with chronic kidney disease (CKD) carry a high risk for adverse drug events due to multiple co-morbidities, using many medications, and being cared for by many practitioners. Data evaluating the benefits of ambulatory medication reconciliation (AmbMR) in patients with advanced CKD is limited. Methods: We retrospectively evaluated types and rates of medication discrepancies and their potential index for patient harm using the Cornish classification system in a cohort of consecutive non-dialysis-dependent CKD stage 5 patients who received AmbMR...
April 2017: CANNT Journal, Journal ACITN
https://www.readbyqxmd.com/read/29216183/presentation-of-life-threatening-invasive-nontyphoidal-salmonella-disease-in-malawian-children-a-prospective-observational-study
#5
Calman A MacLennan, Chisomo L Msefula, Esther N Gondwe, James J Gilchrist, Paul Pensulo, Wilson L Mandala, Grace Mwimaniwa, Meraby Banda, Julia Kenny, Lorna K Wilson, Amos Phiri, Jenny M MacLennan, Elizabeth M Molyneux, Malcolm E Molyneux, Stephen M Graham
Nontyphoidal Salmonellae commonly cause invasive disease in African children that is often fatal. The clinical diagnosis of these infections is hampered by the absence of a clear clinical syndrome. Drug resistance means that empirical antibiotic therapy is often ineffective and currently no vaccine is available. The study objective was to identify risk factors for mortality among children presenting to hospital with invasive Salmonella disease in Africa. We conducted a prospective study enrolling consecutive children with microbiologically-confirmed invasive Salmonella disease admitted to Queen Elizabeth Central Hospital, Blantyre, in 2006...
December 7, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29215977/early-outcomes-of-state-public-health-actions-school-nutrition-strategies
#6
Seraphine Pitt Barnes, Syreeta Skelton-Wilson, Adina Cooper, Caitlin Merlo, Sarah Lee
INTRODUCTION: Since 2013, the State Public Health Actions to Prevent and Control Diabetes, Heart Disease, Obesity and Associated Risk Factors and Promote School Health (State Public Health Actions) program has been implemented to support and reinforce healthy choices and healthy behaviors among the US population. The Centers for Disease Control and Prevention's Division of Population Health's School Health Branch has been a critical component, ensuring that state health departments support schools in adopting nutrition standards and creating a supportive nutrition environment...
December 7, 2017: Preventing Chronic Disease
https://www.readbyqxmd.com/read/29215496/comparing-health-related-quality-of-life-outcomes-in-patients-undergoing-either-primary-or-revision-anterior-cervical-discectomy-and-fusion
#7
Gregory D Schroeder, Barrett S Boody, Christopher K Kepler, Mark F Kurd, Stephen Silva, Kristen Nicholson, Jefferson R Wilson, Barret I Woods, Kris E Radcliff, D Greg Anderson, Alan S Hilibrand, Alexander R Vaccaro, Jeffery A Rihn
STUDY DESIGN: A retrospective review of prospectively collected data. OBJECTIVE: Compare HRQOL outcome metrics in patients undergoing primary and revision ACDF. SUMMARY OF BACKGROUND DATA: Anterior cervical discectomy and fusion (ACDF) is associated with significant improvements in health related quality of life (HRQOL) outcome metrics. However, 2.9% of patients per year will develop symptomatic adjacent segment disease and there is a paucity of literature on HRQOL outcomes following revision ACDF...
December 5, 2017: Spine
https://www.readbyqxmd.com/read/29214321/hemithyroidectomy-for-low-risk-follicular-carcinoma-of-thyroid-results-from-a-regional-hospital
#8
Tam-Lin Chow, Susanna Wai-Yin Tam, Chi-Yee Choi, Wilson Wai-Yin Kwan
INTRODUCTION: Excellent outcome after conservative thyroid surgery for low-risk follicular thyroid carcinoma (FTC) has been reported from highly specialised centres. However, it is uncertain whether similar treatment results can be achieved in low-volume hospitals. METHODS: At our institution, 49 patients with FTC were treated during 1991-2014. Patients with minimally invasive FTC (MIFTC) were usually treated with hemithyroidectomy. The demographic data, pathology, treatment modality and oncological outcomes of these patients were retrospectively evaluated...
December 7, 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/29214211/targeted-kinase-inhibition-relieves-slowness-and-tremor-in-a-drosophila-model-of-lrrk2-parkinson-s-disease
#9
Amy C Cording, Nicolas Shiaelis, Stavroula Petridi, C Adam Middleton, Laurence G Wilson, Christopher J H Elliott
In a number of Drosophila models of genetic Parkinson's disease (PD) flies climb more slowly than wild-type controls. However, this assay does not distinguish effects of PD-related genes on gravity sensation, "arousal", central pattern generation of leg movements, or muscle. To address this problem, we have developed an assay for the fly proboscis extension response (PER). This is attractive because the PER has a simple, well-identified reflex neural circuit, in which sucrose sensing neurons activate a pair of "command interneurons", and thence motoneurons whose activity contracts the proboscis muscle...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/29210138/endovascular-shedding-markers-in-patients-with-heart-failure-with-reduced-ejection-fraction
#10
Petra Nijst, Jirka Cops, Pieter Martens, Quirine Swennen, Matthias Dupont, W H Wilson Tang, Wilfried Mullens
BACKGROUND: Endothelial glycocalyx degradation has been associated with multiple pathophysiological processes in cardiovascular disease. AIMS: To explore the role of glycocalyx shedding markers in pathophysiology of heart failure with reduced ejection fraction (HFrEF). METHODS: In 123 HFrEF patients the concentration, prognostic value and association of glycocalyx shedding markers with other disease processes was investigated. RESULTS: Median hyaluronic acid (HA) levels and syndecan-1 levels in HFrEF patients were respectively 29...
December 6, 2017: Microcirculation: the Official Journal of the Microcirculatory Society, Inc
https://www.readbyqxmd.com/read/29209135/first-case-of-cross-auxiliary-double-domino-donor-liver-transplantation
#11
Zhi-Jun Zhu, Lin Wei, Wei Qu, Li-Ying Sun, Ying Liu, Zhi-Gui Zeng, Liang Zhang, En-Hui He, Hai-Ming Zhang, Ji-Dong Jia, Zhong-Tao Zhang
We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy (FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino graft was implanted during each stage. During the first stage, an auxiliary domino liver transplantation was conducted using a domino graft from a 4-year-old female child with Wilson's disease. After removing the right lobe of the FAP patient's liver, the graft was rotated 90 degrees counterclockwise and placed along the right side of the inferior vena cava (IVC)...
November 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29209112/epidemiology-and-natural-history-of-wilson-s-disease-in-the-chinese-a-territory-based-study-in-hong-kong-between-2000-and-2016
#12
Ka-Shing Cheung, Wai-Kay Seto, James Fung, Lung-Yi Mak, Ching-Lung Lai, Man-Fung Yuen
AIM: To investigate the epidemiology and natural history of Wilson's disease in the Chinese. METHODS: Data were retrieved via electronic search of hospital medical registry of the Hong Kong Hospital Authority, which covers all the public healthcare services. We identified cases of Wilson's disease between 2000 and 2016 by the International Classification of Diseases (ICD)-9 code. We analyzed the incidence rate, prevalence and adverse outcomes of Wilson's disease...
November 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29208618/feasibility-study-of-a-randomised-controlled-trial-to-investigate-the-treatment-of-sarcoidosis-associated-fatigue-with-methylphenidate-fast-mp-a-study-protocol
#13
Christopher Atkins, Richard Fordham, Allan B Clark, Andrea Stockl, Andrew P Jones, Andrew M Wilson
INTRODUCTION: Fatigue is a frequent and troublesome manifestation of chronic sarcoidosis. This symptom can be debilitating and difficult to treat, with poor response to the treatment. Symptomatic management with neurostimulants, such as methylphenidate, is a possible treatment option. The use of such treatment strategies is not without precedent and has been trialled in cancer-related fatigue. Their use in sarcoidosis requires further evaluation before it can be recommended for clinical practice...
December 4, 2017: BMJ Open
https://www.readbyqxmd.com/read/29206475/whole-blood-gene-expression-in-pulmonary-non-tuberculous-mycobacterial-infection
#14
Steven A Cowman, Joseph Jacob, David M Hansell, Peter Kelleher, Robert Wilson, William O C Cookson, Miriam F Moffatt, Michael R Loebinger
RATIONALE: The factors predisposing towards the development of pulmonary non-tuberculous mycobacterial disease (pNTM) and influencing disease progression remain unclear. Impaired immune responses have been reported in individuals with pNTM but data are limited and inconsistent. OBJECTIVES: To use gene expression profiling to examine the host response to pNTM. METHODS: Microarray analysis of whole blood gene expression was performed on 25 subjects with pNTM and 27 uninfected controls with respiratory disease...
December 5, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29205290/clinical-impact-of-sedentary-behaviors-in-adult-survivors-of-acute-lymphoblastic-leukemia-a-report-from-the-st-jude-lifetime-cohort-study
#15
Carrie R Howell, Carmen L Wilson, Matthew J Ehrhardt, Robyn E Partin, Sue C Kaste, Jennifer Q Lanctot, Ching-Hon Pui, Leslie L Robison, Melissa M Hudson, Kirsten K Ness
BACKGROUND: Sedentary behaviors are associated with poor health outcomes in the general population, but their clinical impact on adult survivors of childhood acute lymphoblastic leukemia (ALL) has not been characterized to date. In the current study, we described the prevalence of sedentary behaviors in survivors of ALL and examined associations between time spent sedentary and body composition and onset of cardiovascular disease (CVD) risk factors. METHODS: Participants' self-reported screen time (eg, television, computer) and activity as measured by accelerometer were used to determine activity time (sedentary, light activity, and moderate or vigorous physical activity)...
December 4, 2017: Cancer
https://www.readbyqxmd.com/read/29202449/clonal-relationships-of-csf-b-cells-in-treatment-naive-multiple-sclerosis-patients
#16
Erica L Eggers, Brady A Michel, Hao Wu, Sheng-Zhi Wang, Carolyn J Bevan, Aya Abounasr, Natalie S Pierson, Antje Bischof, Max Kazer, Elizabeth Leitner, Ariele L Greenfield, Stanislas Demuth, Michael R Wilson, Roland G Henry, Bruce Ac Cree, Stephen L Hauser, H-Christian von Büdingen
A role of B cells in multiple sclerosis (MS) is well established, but there is limited understanding of their involvement during active disease. Here, we examined cerebrospinal fluid (CSF) and peripheral blood (PB) B cells in treatment-naive patients with MS or high-risk clinically isolated syndrome. Using flow cytometry, we found increased CSF lymphocytes with a disproportionate increase of B cells compared with T cells in patients with gadolinium-enhancing (Gd+) lesions on brain MRI. Ig gene heavy chain variable region (Ig-VH) repertoire sequencing of CSF and PB B cells revealed clonal relationships between intrathecal and peripheral B cell populations, which could be consistent with migration of B cells to and activation in the CNS in active MS...
November 16, 2017: JCI Insight
https://www.readbyqxmd.com/read/29202119/enrichment-of-retroviral-sequences-in-brain-tissue-from-patients-with-severe-demyelinating-diseases
#17
J D Kriesel, P J Bhetariya, B K Chan, T Wilson, K F Fischer
Background: Our group has used deep sequencing to identify viral RNA signatures in human brain specimens. We have previously used this method to detect HSV1, GBV-C, and measles virus sequence in brain tissue from deceased donors. Deep sequencing was performed on brain specimens from a cohort of patients who died with progressive forms of MS, revealing evidence of increased expression of some human endogenous retrovirus (HERV) domains. Objectives: Identify RNA sequences and new antigens involved in the pathogenesis of MS...
August 2017: Journal of Emerging Diseases and Virology
https://www.readbyqxmd.com/read/29201778/liver-disease-in-sri-lanka
#18
REVIEW
Hasitha S Wijewantha
Liver disease in Sri Lanka is mainly due to alcoholic liver disease and nonalcoholic fatty liver disease. In contrast to other South Asian countries, the prevalence of hepatitis B and C is low in Sri Lanka and prevalence of hepatitis A is intermediate. The few reported cases of hepatitis E in Sri Lanka are mainly in people who have traveled to neighboring South Asian countries. Wilson's disease, autoimmune hepatitis, hemochromatosis, drug-induced liver disease, and primary biliary cirrhosis are recognized causes of liver disease in Sri Lanka...
January 2017: Euroasian Journal of Hepato-Gastroenterology
https://www.readbyqxmd.com/read/29200569/misidentification-of-wilson-disease-as-schizophrenia-1998-2013-case-report-and-review
#19
Forouzan Elyasi
Wilson's disease (WD) is a neurodegenerative disorder due to copper metabolism. Schizophrenia-like psychosis and delusional disorder are rare forms of psychiatric manifestations of WD. The lack of recognition of these signs and symptoms as being attributable to WD often leads to delays in diagnosis and management. Knowledge about relationship of the psychiatric manifestations to WD can help with the administration of adequate management aimed at both the psychiatric issues and underlying WD. The objectives of this article are to review case reports whose subject is the incorrect diagnosis of schizophrenia or schizophrenia-like syndrome in patients with WD and to detail one case of this mismanagement of the disease...
September 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29199461/biomarkers-delivering-on-the-expectation-of-molecularly-driven-quantitative-health
#20
Jennifer L Wilson, Russ B Altman
Biomarkers are the pillars of precision medicine and are delivering on expectations of molecular, quantitative health. These features have made clinical decisions more precise and personalized, but require a high bar for validation. Biomarkers have improved health outcomes in a few areas such as cancer, pharmacogenetics, and safety. Burgeoning big data research infrastructure, the internet of things, and increased patient participation will accelerate discovery in the many areas that have not yet realized the full potential of biomarkers for precision health...
January 1, 2017: Experimental Biology and Medicine
keyword
keyword
11453
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"