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Wilson disease

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https://www.readbyqxmd.com/read/28645223/decline-in-literacy-and-incident-ad-dementia-among-community-dwelling-older-persons
#1
Lei Yu, Robert S Wilson, S Duke Han, Sue Leurgans, David A Bennett, Patricia A Boyle
OBJECTIVE: To quantify longitudinal change in financial and health literacy and examine the associations of declining literacy with incident Alzheimer's disease (AD) dementia and mild cognitive impairment (MCI). METHOD: Data came from 799 participants of an ongoing cohort study. Literacy was measured using a battery of 32 questions. Clinical diagnoses were made annually following uniform structured procedures. The associations of declining literacy with incident AD dementia and MCI were tested using a joint model for longitudinal and time-to-event data...
June 1, 2017: Journal of Aging and Health
https://www.readbyqxmd.com/read/28644185/a-simple-ultrasound-score-for-the-accurate-detection-of-inflammatory-activity-in-crohn-s-disease
#2
Kerri L Novak, Gilaad G Kaplan, Remo Panaccione, Elnaz Ehteshami Afshar, Divine Tanyingoh, Mark Swain, Amelia Kellar, Stephanie Wilson
BACKGROUND: Ultrasound is accurate in the detection of Crohn's disease. Our aim was to identify ultrasound parameters contributing to inflammatory disease activity, develop a simple score, and validate this score prospectively. METHODS: This study comprised 2 single-center investigations. The first was a retrospective study on a population that had received colonoscopies (as a gold-standard diagnostic) within 60 days of ultrasound. The second was a prospective study on 2 populations: patients requiring induction with adalimumab and patients on adalimumab maintenance therapy...
June 20, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28642861/reported-systems-changes-and-sustainability-perceptions-of-three-state-departments-of-health-implementing-multi-faceted-evidence-based-fall-prevention-efforts
#3
Matthew Lee Smith, Ellen C Schneider, Imani N Byers, Tiffany E Shubert, Ashley D Wilson, Samuel D Towne, Marcia G Ory
Although the concepts of systems change and sustainability are not new, little is known about the factors associated with systems change sustaining multi-state, multi-level fall prevention efforts. This exploratory study focuses on three State Departments of Health (DOH) that were awarded 5-year funding from the Centers for Disease Control and Prevention to simultaneously implement four separate yet related evidence-based fall prevention initiatives at the clinical, community, and policy level. The purpose of this study was to examine changes in partnerships and collaborative activities that occurred to accomplish project goals (examining changes in the context of "before funding" and "after funding was received")...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28642858/pathological-fracture-of-femoral-neck-leading-to-a-diagnosis-of-wilson-s-disease-a-case-report-and-review-of-literature
#4
Nishit Bhatnagar, Purushotham Lingaiah, Jeetendra Singh Lodhi, Yugal Karkhur
Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD, they are under-recognized. Musculoskeletal manifestations very rarely lead to diagnosis of the disease. Here we present a case of a 12-year-old girl who presented with a 3-month-old pathological fracture of neck of femur. WD was diagnosed on investigating the cause of the pathological fracture, which was managed by performing a conventional McMurray's intertrochanteric osteotomy...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28642109/neoaortic-xenoprosthetic-grafts-for-treatment-of-mycotic-aneurysms-and-infected-aortic-grafts
#5
C Anibueze, V Sankaran, U Sadat, K Tan, Y G Wilson, R E Brightwell, M S Delbridge, P W Stather
OBJECTIVE: There is no international consensus regarding the optimum management of infected aortae (mycotic aneurysms, infected aortic grafts). Neoaortoiliac reconstruction has advantages over extra anatomical bypass grafting; however use of autologous vein is associated with venous hypertension and compartment syndrome, alternatively cadaveric homografts are associated with high rates of perianastomotic haemorrhage, limb occlusion and pseudoaneurysm. Arterial repair using xenoprosthetic patches is associated with lower infection rates compared to the use of prosthetic material...
June 19, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28639726/trend-of-centenarian-deaths-in-hong-kong-between-2001-and-2010
#6
Ruby Yu, Wilson Tam, Jean Woo
AIM: To examine the trends in the leading causes of deaths in centenarians in Hong Kong. METHODS: Descriptive analyses of vital statistics data on mortality in Hong Kong from 2001 to 2010 were carried out. RESULTS: The number of centenarians' deaths increased by 136% in 10 years, from less than 28 men and 166 women in 2001 to 80 men and 378 women in 2010. During the study period, the top leading cause of death was pneumonia, accounting for 33...
June 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28639484/detection-test-for-language-impairments-in-adults-and-the-aged-a-new-screening-test-for-language-impairment-associated-with-neurodegenerative-diseases-validation-and-normative-data
#7
Joël Macoir, Marion Fossard, Laurent Lefebvre, Laura Monetta, Antoine Renard, Thi Mai Tran, Maximiliano A Wilson
To date, there is no quick screening test that could be used during routine office visits to accurately assess language disorders in neurodegenerative diseases. To fill this important gap, we developed the Detection Test for Language impairments in Adults and the Aged (DTLA), a quick, sensitive, standardized screening test designed to assess language disorders in adults and the elderly individuals. In Study 1, we describe the development of the DTLA. In Study 2, we report data on the DTLA's validity and reliability...
January 1, 2017: American Journal of Alzheimer's Disease and Other Dementias
https://www.readbyqxmd.com/read/28638514/internal-medicine-residents-ambulatory-management-of-core-geriatric-conditions
#8
Kathryn E Callahan, Lindsay A Wilson, Juliessa M Pavon, James F Lovato, Hal H Atkinson, Jan Busby-Whitehead, Thomas Dalton, Mitchell T Heflin, Patricia Iverson, Janice S Lawlor, Justin Marsden, William P Moran, Ellen Roberts, Jeff D Williamson
BACKGROUND: Adults aged 65 years and older account for more than 33% of annual visits to internal medicine (IM) generalists and specialists. Geriatrics experiences are not standardized for IM residents. Data are lacking on IM residents' continuity experiences with older adults and competencies relevant to their care. OBJECTIVE: To explore patient demographics and the prevalence of common geriatric conditions in IM residents' continuity clinics. METHODS: We collected data on age and sex for all IM residents' active clinic patients during 2011-2012...
June 2017: Journal of Graduate Medical Education
https://www.readbyqxmd.com/read/28633655/inhibition-of-mmp-2-and-mmp-9-decreases-cellular-migration-and-angiogenesis-in-in-vitro-models-of-retinoblastoma
#9
Anderson H Webb, Bradley T Gao, Zachary K Goldsmith, Andrew S Irvine, Nabil Saleh, Ryan P Lee, Justin B Lendermon, Rajini Bheemreddy, Qiuhua Zhang, Rachel C Brennan, Dianna Johnson, Jena J Steinle, Matthew W Wilson, Vanessa M Morales-Tirado
BACKGROUND: Retinoblastoma (Rb) is the most common primary intraocular tumor in children. Local treatment of the intraocular disease is usually effective if diagnosed early; however advanced Rb can metastasize through routes that involve invasion of the choroid, sclera and optic nerve or more broadly via the ocular vasculature. Metastatic Rb patients have very high mortality rates. While current therapy for Rb is directed toward blocking tumor cell division and tumor growth, there are no specific treatments targeted to block Rb metastasis...
June 20, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28631601/viral-genes-and-cellular-markers-associated-with-neurological-complications-during-herpesvirus-infections
#10
Carine L Holz, Rahul K Nelli, M Eilidh Wilson, Lila M Zarski, Walid Azab, Rachel Baumgardner, Nikolaus Osterrieder, Anthony Pease, Liangliang Zhang, Sarah Hession, Lutz S Goehring, Stephen B Hussey, Gisela Soboll Hussey
Despite the importance of neurological disorders associated with herpesviruses, the mechanism by which these viruses influence the central nervous system (CNS) has not been definitively established. Owing to the limitations of studying neuropathogenicity of human herpesviruses in their natural host, many aspects of their pathogenicity and immune response are studied in animal models. Here, we present an important model system that enables studying neuropathogenicity of herpesviruses in the natural host. Equine herpesvirus type 1 (EHV-1) is an alphaherpesvirus that causes a devastating neurological disease (EHV-1 myeloencephalopathy; EHM) in horses...
June 20, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28630323/role-of-the-cbp-catalytic-core-in-intramolecular-sumoylation-and-control-of-histone-h3-acetylation
#11
Sangho Park, Robyn L Stanfield, Maria A Martinez-Yamout, H Jane Dyson, Ian A Wilson, Peter E Wright
The histone acetyl transferases CREB-binding protein (CBP) and its paralog p300 play a critical role in numerous cellular processes. Dysregulation of their catalytic activity is associated with several human diseases. Previous work has elucidated the regulatory mechanisms of p300 acetyltransferase activity, but it is not known whether CBP activity is controlled similarly. Here, we present the crystal structure of the CBP catalytic core encompassing the bromodomain (BRD), CH2 (comprising PHD and RING), HAT, and ZZ domains at 2...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28630076/what-are-the-primary-limitations-in-b-cell-affinity-maturation-and-how-much-affinity-maturation-can-we-drive-with-vaccination-is-affinity-maturation-a-self-defeating-process-for-eliciting-broad-protection
#12
Christopher T Stamper, Patrick C Wilson
Vaccinations are one of the greatest success stories of modern medicine, saving millions of lives since their widespread adoption. However, several diseases continue to elude highly effective vaccination strategies. Chief among these are human immunodeficiency virus (HIV) and influenza (flu), both of which will require vaccines that can guide the creation of highly mutated, broadly neutralizing antibodies (bnAbs). The generation of bnAbs is hindered by our inability to effectively drive the high levels of affinity maturation required to achieve them in a large number of cells...
June 19, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28629749/a-distinct-biomolecular-profile-identifies-monoclonal-mast-cell-disorders-in-patients-with-idiopathic-anaphylaxis
#13
Melody C Carter, Avanti Desai, Hirsh D Komarow, Yun Bai, Sarah T Clayton, Alicia S Clark, Karina N Ruiz-Esteves, Lauren M Long, Daly Cantave, Todd M Wilson, Linda M Scott, Olga Simakova, Mi-Yeon Jung, Jamie Hahn, Irina Maric, Dean D Metcalfe
BACKGROUND: Clonal mast cell disorders are known to occur in a subset of patients with systemic reactions to Hymenoptera stings. This observation has prompted the question as to whether clonal mast cell disorders also occur in patients with idiopathic anaphylaxis (IA). OBJECTIVE: We sought to determine the prevalence of clonal mast cell disorders among patients with IA, criteria to identify those patients who require a bone marrow biopsy and whether the pathogenesis of IA involves a hyper-responsive mast cell compartment...
June 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28629171/cutaneous-manifestations-of-human-and-murine-leishmaniasis
#14
REVIEW
Breanna M Scorza, Edgar M Carvalho, Mary E Wilson
The leishmaniases are diseases caused by pathogenic protozoan parasites of the genus Leishmania. Infections are initiated when a sand fly vector inoculates Leishmania parasites into the skin of a mammalian host. Leishmania causes a spectrum of inflammatory cutaneous disease manifestations. The type of cutaneous pathology is determined in part by the infecting Leishmania species, but also by a combination of inflammatory and anti-inflammatory host immune response factors resulting in different clinical outcomes...
June 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28628941/a-novel-cause-of-chronic-viral-meningoencephalitis-cache-valley-virus
#15
Michael R Wilson, Dan Suan, Andrew Duggins, Ryan D Schubert, Lillian M Khan, Hannah A Sample, Kelsey C Zorn, Aline Rodrigues Hoffman, Anna Blick, Meena Shingde, Joseph L DeRisi
OBJECTIVE: Immunodeficient patients are particularly vulnerable to neuroinvasive infections that can be challenging to diagnose. Metagenomic next-generation sequencing can identify unusual or novel microbes and is therefore well suited for investigating the etiology of chronic meningoencephalitis in immunodeficient patients. METHODS: We present the case of a 34 year-old man with X-linked agammaglobulinemia from Australia suffering from three years of meningoencephalitis that defied an etiologic diagnosis despite extensive conventional testing, including a brain biopsy...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28627489/treatment-of-francisella-infections-via-plga-and-lipid-based-nanoparticle-delivery-of-antibiotics-in-a-zebrafish-model
#16
Lilia S Ulanova, Marina Pinheiro, Carina Vibe, Claudia Nunes, Dorna Misaghian, Steven Wilson, Kaizheng Zhu, Federico Fenaroli, Hanne C Winther-Larsen, Salette Reis, Gareth Griffiths
We tested the efficiency of 2 different antibiotics, rifampicin and oxolinic acid, against an established infection caused by fish pathogen Francisella noatunensis ssp. orientalis (F.n.o.) in zebrafish. The drugs were tested in the free form as well as encapsulated into biodegradable nanoparticles, either polylactic-co-glycolic acid (PLGA) nanoparticles or nanostructured lipid carriers. The most promising therapies were PLGA-rifampicin nanoparticles and free oxolinic acid; the PLGA nanoparticles significantly delayed embryo mortality while free oxolinic acid prevented it...
June 19, 2017: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/28625845/injury-and-defective-regeneration-of-the-epithelial-basement-membrane-in-corneal-fibrosis-a-paradigm-for-fibrosis-in-other-organs
#17
REVIEW
Steven E Wilson, Gustavo K Marino, Andre A M Torricelli, Carla S Medeiros
Myofibroblast-mediated fibrosis is important in the pathophysiology of diseases in most organs. The cornea, the transparent anterior wall of the eye that functions to focus light on the retina, is commonly affected by fibrosis and provides an optimal model due to its simplicity and accessibility. Severe injuries to the cornea, including infection, surgery, and trauma, may trigger the development of myofibroblasts and fibrosis in the normally transparent connective tissue stroma. Ultrastructural studies have demonstrated that defective epithelial basement membrane (EBM) regeneration after injury underlies the development of myofibroblasts from both bone marrow- and keratocyte-derived precursor cells in the cornea...
June 15, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28625364/semi-quantitative-models-for-identifying-potent-and-selective-transthyretin-amyloidogenesis-inhibitors
#18
Stephen Connelly, David E Mortenson, Sungwook Choi, Ian A Wilson, Evan T Powers, Jeffery W Kelly, Steven M Johnson
Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and pharmacologic evidence. Small molecules that bind to the generally unoccupied thyroxine binding pockets in the native TTR tetramer kinetically stabilize the tetramer, slowing subunit dissociation proportional to the extent that the molecules stabilize the native state over the dissociative transition state-thereby inhibiting amyloidogenesis...
May 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28625356/prognostic-markers-of-outcome-in-patients-undergoing-infra-inguinal-revascularisation-a-prospective-observational-pilot-study
#19
M Kanakaraj, D R Yates, R J T Wilson, M L Baroni, S J Davies
OBJECTIVES: The aim was to investigate whether cardiopulmonary exercise testing (CPET) variables derived from cycle and arm ergonometry correlate, and whether CPET variables and pre-operative N-terminal pro-brain natriuretic peptide (NT-proBNP) have prognostic significance and if the combination of the two has incremental value. METHODS: A prospective observational pilot study was conducted; 70 patients who underwent infra-inguinal bypass surgery were recruited...
June 15, 2017: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28623035/prevalence-and-risk-factors-associated-to-peripheral-arterial-disease-in-an-adult-population-from-colombia
#20
Lorena Urbano, Eliana Portilla, Wilson Muñoz, Albert Hofman, Carlos H Sierra-Torres
BACKGROUND: Cardiovascular diseases (CVD) are the most important cause of mortality in Latin America while peripheral arterial disease (PAD) is the third leading cause of atherosclerotic cardiovascular morbidity. OBJECTIVE: To establish the prevalence of PAD and the distribution of traditional CVD risk factors in a population from the Department of Cauca, Colombia. METHODS: A cross-sectional study was performed in a total of 10,000 subjects aged ≥40 years from 36 municipalities...
June 13, 2017: Archivos de Cardiología de México
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