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Wilsons disease

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https://www.readbyqxmd.com/read/29161476/-spatial-distribution-of-aedes-aegypti-diptera-culicidae-in-the-rural-area-of-two-municipalities-of-cundinamarca-colombia
#1
Laura Cabezas, Wilson Cabanzo, Fernando Santa, Victor Alberto Olano, Diana Sarmiento, Sandra Vargas, Juan Felipe Jaramillo, Thor-Axel Stenstrom, Hans J Overgaard, María Inés Matiz
INTRODUCTION: It is difficult to adapt or create new strategies for dengue control in rural areas due to the dispersion of homes and the lack of knowledge about the presence and behavior of the vector in these areas. Spatial data analysis could help understand time and space dynamics related to the transmission of vector-borne diseases in rural areas and, thus, contribute to the prevention and control of dengue. OBJECTIVE: To determine the probability of the presence of the dengue vector Aedes aegypti in the rural area of the municipalities of Anapoima and La Mesa, in the central area of Colombia...
March 29, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/29161307/repeat-polymorphisms-in-the-homo-sapiens-heme-oxygenase-1-gene-in-diabetic-and-idiopathic-gastroparesis
#2
Simon J Gibbons, Madhusudan Grover, Kyoung Moo Choi, Akhilesh Wadhwa, Adeel Zubair, Laura A Wilson, Yanhong Wu, Thomas L Abell, William L Hasler, Kenneth L Koch, Richard W McCallum, Linda A B Nguyen, Henry P Parkman, Irene Sarosiek, William J Snape, James Tonascia, Frank A Hamilton, Pankaj J Pasricha, Gianrico Farrugia
BACKGROUND: Idiopathic and diabetic gastroparesis in Homo sapiens cause significant morbidity. Etiology or risk factors have not been clearly identified. Failure to sustain elevated heme oxygenase-1 (HO1) expression is associated with delayed gastric emptying in diabetic mice and polymorphisms in the HO1 gene (HMOX1, NCBI Gene ID:3162) are associated with worse outcomes in other diseases. AIM: Our hypothesis was that longer polyGT alleles are more common in the HMOX1 genes of individuals with gastroparesis than in controls without upper gastrointestinal motility disorders...
2017: PloS One
https://www.readbyqxmd.com/read/29160519/ex-vivo-t-lymphocyte-chemokine-receptor-phenotypes-in-patients-with-chronic-chagas-disease
#3
Matheus Barbosa de Miranda, Adriene Siqueira de Melo, Mariana Silva Almeida, Silvia Martins Marinho, Wilson Oliveira, Yara de Miranda Gomes
INTRODUCTION: Elucidating the molecules involved in the inflammatory process of chronic Chagas disease may allow identification of treatment targets. METHODS: The ex vivo phenotypic expression of chemokine receptors CCR1, CCR3, CCR4, CCR5, CXCR2, CXCR3, CXCR4, and CXCR5 on the CD4+ and CD8+ T-cells of patients with chronic Chagas cardiomyopathy of varying severity was evaluated using flow cytometry. RESULTS: Differential expression of CD4+CCR3+ and CD8+CCR4+ T-cells was observed in patients with mild cardiac involvement compared, respectively, with patients with severe cardiac and asymptomatic forms of Chagas disease...
September 2017: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29159549/-diagnostics-of-wilson-s-disease
#4
REVIEW
W Hermann, D Huster
Wilson's disease is a rare genetic but treatable metabolic disorder which has a favorable prognosis when diagnosed early and treated adequately. Therefore, knowledge of this rare clinical condition and a reliable diagnosis are indispensable. The diagnostic work-up is initiated in cases of unexplained acute or chronic liver disease and/or an extrapyramidal motor disturbance occurring mostly between the 5th and 45th years of life. Manifestations with initial symptoms have occasionally been observed at an age younger than 1 year and later than 70 years...
November 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29158853/diagnosis-and-treatment-of-autoimmune-liver-diseases-in-a-tertiary-referral-center-in-cuba
#5
Marlen Ivón Castellanos Fernández, Deyanira la Rosa Hernández, Diego Enrique Cabrera Eugenio, Wilson Palanca, Zaily Dorta Guridi, Licet González Fabián
Background: Autoimmune liver diseases (AILD) comprise a set of entities characterized by tissue damage as a result of the loss of self-tolerance. There are few reports of AILD from Caribbean countries. Objectives: The aim of our study was to investigate the clinical patterns, laboratory findings, and immunologic features, treatment responses, and prognoses of AILD in adult patients at a Cuban tertiary referral center. Methods: A prospective study was conducted at the National Institute of Gastroenterology in Havana, Cuba, from May 2012 to April 2016...
2017: Current Therapeutic Research, Clinical and Experimental
https://www.readbyqxmd.com/read/29157311/peripheral-and-local-predictive-immune-signatures-identified-in-a-phase-ii-trial-of-ipilimumab-with-carboplatin-paclitaxel-in-unresectable-stage-iii-or-stage-iv-melanoma
#6
Rahima Jamal, Réjean Lapointe, Eftihia Cocolakis, Paméla Thébault, Shirin Kazemi, Jennifer E Friedmann, Jeanne Dionne, Jean-François Cailhier, Karl Bélanger, Jean-Pierre Ayoub, Huy Le, Caroline Lambert, Jida El-Hajjar, Léon C van Kempen, Alan Spatz, Wilson H Miller
BACKGROUND: Checkpoint blockade with ipilimumab provides long-term survival to a significant proportion of patients with metastatic melanoma. New approaches to increase survival and to predict which patients will benefit from treatment are needed. This phase II trial combined ipilimumab with carboplatin/paclitaxel (CP) to assess its safety, efficacy, and to search for peripheral and tumor-based predictive biomarkers. METHODS: Thirty patients with untreated unresectable/metastatic melanoma were treated with ipilimumab and CP...
November 21, 2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/29157060/mycobacterium-genavense-infections-in-non-hiv-immunocompromised-hosts-a-systematic-review
#7
Maryam Mahmood, Saira Ajmal, Omar M Abu Saleh, Alexandra Bryson, Jasmine R Marcelin, John W Wilson
BACKGROUND: Mycobacterium genavense is a non-tuberculous mycobacterium which can rarely cause disease in non-HIV immunocompromised hosts. We describe our experience with this unusual infection and perform a systematic review of the literature to describe the features of M. genavense infection in non-HIV immunocompromised hosts. METHODS: All cases of Mycobacterium genavense infection in non-HIV patients at our institution were reviewed. In addition, we conducted a systematic review of the literature to identify previously published cases of M...
November 20, 2017: Infectious Diseases
https://www.readbyqxmd.com/read/29156912/genetic-biomarkers-associated-with-pain-flare-and-dexamethasone-response-following-palliative-radiotherapy-in-patients-with-painful-bone-metastases
#8
Anthony Furfari, Bo Angela Wan, Keyue Ding, Andrew Wong, Liting Zhu, Andrea Bezjak, Rebecca Wong, Carolyn F Wilson, Carlo DeAngelis, Azar Azad, Edward Chow, George S Charames
BACKGROUND: In patients who receive palliative radiation therapy (RT) for painful bone metastases, 40% experience a transient increase in pain known as a pain flare. Prophylactic dexamethasone has been shown to reduce pain flare incidence to 25%. We aimed to identify DNA biomarkers associated with pain flare and dexamethasone response. METHODS: Daily pain levels were recorded by 81 patients who received a single 8 Gy RT for painful bone metastases, of which 50 also received prophylactic dexamethasone...
September 20, 2017: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/29156909/genetic-biomarkers-associated-with-response-to-palliative-radiotherapy-in-patients-with-painful-bone-metastases
#9
Anthony Furfari, Bo Angela Wan, Keyue Ding, Andrew Wong, Liting Zhu, Andrea Bezjak, Rebecca Wong, Carolyn F Wilson, Carlo DeAngelis, Azar Azad, Edward Chow, George S Charames
BACKGROUND: Palliative radiotherapy (RT) is effective in patients with painful bone metastases. Genetic factors may identify subgroup of patients who responded to RT. To identify DNA biomarkers associated with response to palliative RT. METHODS: Patients who received a single 8 Gy dose of RT for painful bone metastases were categorised into responders (n=36), non-responders (NR) (n=71). Saliva samples were sequenced to identify single-nucleotide variants (SNVs) in genes with known disease-causing variants from inflammation, radiation response, and DNA damage pathways...
October 10, 2017: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/29156903/gender-differences-in-pain-and-patient-reported-outcomes-a-secondary-analysis-of-the-ncic-ctg-sc-23-randomized-trial
#10
Selina Chow, Keyue Ding, Bo Angela Wan, Michael Brundage, Ralph M Meyer, Abdenour Nabid, Pierre Chabot, Genevievev Coulombe, Shahida Ahmed, Joda Kuk, A Rashid Dar, Aamer Mahmud, Alysa Fairchild, Carolyn F Wilson, Jackson S Y Wu, Kristopher Dennis, Carlo DeAngelis, Rebecca K S Wong, Liting Zhu, Edward Chow
BACKGROUND: Gender differences may contribute to variations in disease presentations and health outcomes. To explore the gender difference in pain and patient reported outcomes in cancer patients with bone metastases undergoing palliative radiotherapy on the National Cancer Institute of Canada (NCIC) SC.23 randomized trial. METHODS: Patients completed the European Organisation for Research and Treatment of Cancer (EORTC) Quality of Life (QOL) bone metastases module (QLQ-BM22) and EORTC QOL Core-15-Palliative (QLQ-C15-PAL) before treatment and at days 10 and 42 after a single 8 Gy radiation treatment...
August 29, 2017: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/29156135/fluorescent-probes-of-dna-repair
#11
David L Wilson, Eric T Kool
DNA repair is now understood to play a key role in a variety of disease states, most notably cancer. Tools for studying DNA have typically relied on traditional biochemical methods which are often laborious and indirect. Efforts to study the biology and therapeutic relevance of DNA repair pathways can be limited by such methods. Recently, specific fluorescent probes have been developed to aid in the study of DNA repair. Fluorescent probes offer the advantage of being able to directly assay for DNA repair activity in a simple, mix-and-measure format...
November 20, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29154019/local-specialty-pharmacy-and-specialty-clinic-collaboration-assists-access-to-hepatitis-c-direct-acting-antivirals
#12
Julia Zhu, Ronald J Hazen, Cara Joyce, Ambrose Delpino, Heather S Kirkham, Carson Dietrich Strickland, Shauna Markes-Wilson, Tomeka Kim, Meen Kang, Raymond A Rubin, Lance L Stein
OBJECTIVES: To measure prescribed time to therapy (TtT) and sustained virologic response (SVR). Secondary objectives were to assess insurance appeals and copay assistance amount facilitated by a local specialty pharmacy (LSP). METHODS: This descriptive, retrospective study used a joint clinical and pharmacy database of patients who were prescribed direct-acting antivirals (DAAs) at a single-center liver specialty clinic and received LSP services from December 2013 to December 2015...
November 16, 2017: Journal of the American Pharmacists Association: JAPhA
https://www.readbyqxmd.com/read/29153911/unusual-osseous-presentation-of-wilson-disease-in-a-child
#13
M Almes, C Fayard, E Gonzales, B Hermeziu, C Bellesme, E Jacquemin, I Koné-Paut, C Adamsbaum, P Dusser
No abstract text is available yet for this article.
November 16, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29153196/metabolic-biomarkers-in-heart-failure
#14
REVIEW
Chonyang L Albert, W H Wilson Tang
Metabolomics is the study of small, organic molecules within biochemical pathways. With advancement of technology, nuclear magnetic resonance, gas chromatography, and mass spectrometry have allowed for the discovery and analysis of large databases of metabolites implicated in heart failure. Metabolomics also explores the patient and environment interactions and unlocks the link between environmental exposures and the development of cardiovascular disease. Although a relatively new field, metabolomics is poised to become a clinically impactful field that develops novel biomarkers and explores new therapeutic interventions in heart failure...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153026/annals-express-an-icp-ms-method-for-relative-free-copper-determination-and-generation-of-a-paediatric-reference-interval
#15
Patrick Wainwright, Daniel Wadey, Paul Cook
Background - Diagnosis of Wilson's disease is currently performed using caeruloplasmin as a first line screening test however this test has well described limitations. Monitoring of known Wilson's disease patients often uses 24 hour urine collection however this is inaccurate in children. Methods for directly measuring plasma free copper have been described but no reference interval data exist for a paediatric population. Methods - An ICP-MS method for measuring free copper was developed and validated, using ultracentrifugation...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29152215/ozone-therapy-an-overview-of-pharmacodynamics-current-research-and-clinical-utility
#16
REVIEW
Noel L Smith, Anthony L Wilson, Jason Gandhi, Sohrab Vatsia, Sardar Ali Khan
The use of ozone (O3) gas as a therapy in alternative medicine has attracted skepticism due to its unstable molecular structure. However, copious volumes of research have provided evidence that O3's dynamic resonance structures facilitate physiological interactions useful in treating a myriad of pathologies. Specifically, O3 therapy induces moderate oxidative stress when interacting with lipids. This interaction increases endogenous production of antioxidants, local perfusion, and oxygen delivery, as well as enhances immune responses...
July 2017: Medical Gas Research
https://www.readbyqxmd.com/read/29150489/cumulative-burden-of-inflammation-predicts-colorectal-neoplasia-risk-in-ulcerative-colitis-a-large-single-centre-study
#17
Chang-Ho Ryan Choi, Ibrahim Al Bakir, Nik-Sheng John Ding, Gui-Han Lee, Alan Askari, Janindra Warusavitarne, Morgan Moorghen, Adam Humphries, Ana Ignjatovic-Wilson, Siwan Thomas-Gibson, Brian P Saunders, Matthew D Rutter, Trevor A Graham, Ailsa L Hart
OBJECTIVE: Ulcerative colitis (UC) is a dynamic disease with its severity continuously changing over time. We hypothesised that the risk of colorectal neoplasia (CRN) in UC closely follows an actuarial accumulative inflammatory burden, which is inadequately represented by current risk stratification strategies. DESIGN: This was a retrospective single-centre study. Patients with extensive UC who were under colonoscopic surveillance between 2003 and 2012 were studied...
November 17, 2017: Gut
https://www.readbyqxmd.com/read/29148534/genetic-testing-of-complement-and-coagulation-pathways-in-patients-with-severe-hypertension-and-renal-microangiopathy
#18
Christopher P Larsen, Jon D Wilson, Alejandro Best-Rocha, Marjorie L Beggs, Randolph A Hennigar
A diagnosis of thrombotic microangiopathy on kidney biopsy in a patient presenting with hypertensive emergency has historically elicited the diagnosis of malignant hypertension-associated thrombotic microangiopathy. Recent studies, however, have raised awareness that a number of these patients may actually represent atypical hemolytic uremic syndrome. To further investigate this premise, we performed next-generation sequencing to interrogate the coding regions of 29 complement and coagulation cascade genes associated with atypical hemolytic uremic syndrome in 100 non-elderly patients presenting with severe hypertension, renal failure and a kidney biopsy showing microangiopathic changes limited to the classic accelerated hypertension-associated lesion of arterial intimal edema ('mucoid intimal hyperplasia') in isolation and without accompanying glomerular microthrombi...
November 17, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29147900/structural-biology-of-the-dj-1-superfamily
#19
Nathan Smith, Mark A Wilson
The DJ-1 (also called the DJ-1/PfpI, ThiJ/PfpI, or DJ-1/ThiJ/PfpI) superfamily is a structural and functional diverse group of proteins that are present in most organisms. Many of these proteins remain poorly characterized at the biochemical level, but include some known chaperones, proteases, and various stress response proteins that remain mechanistically mysterious. This chapter outlines what is known from a structural perspective about the cellular and biochemical functions of many of these proteins from distinct clades of the superfamily in several organisms...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29147139/insights-into-the-management-of-wilson-s-disease
#20
REVIEW
Mohmadshakil Kathawala, Gideon M Hirschfield
Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations...
November 2017: Therapeutic Advances in Gastroenterology
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