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Wilson's disease

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https://www.readbyqxmd.com/read/28346535/caudwell-xtreme-everest-a-prospective-study-of-the-effects-of-environmental-hypoxia-on-cognitive-functioning
#1
Konstadina Griva, Jan Stygall, Mark H Wilson, Daniel Martin, Denny Levett, Kay Mitchell, Monty Mythen, Hugh E Montgomery, Mike P Grocott, Golnar Aref-Adib, Mark Edsell, Tracie Plant, Chris Imray, Debbie Cooke, Jane Harrington, Maryam Khosravi, Stanton P Newman
BACKGROUND: The neuropsychological consequences of exposure to environmental hypobaric hypoxia (EHH) remain unclear. We thus investigated them in a large group of healthy volunteers who trekked to Mount Everest base camp (5,300 m). METHODS: A neuropsychological (NP) test battery assessing memory, language, attention, and executive function was administered to 198 participants (age 44.5±13.7 years; 60% male). These were studied at baseline (sea level), 3,500 m (Namche Bazaar), 5,300 m (Everest Base Camp) and on return to 1,300 m (Kathmandu) (attrition rate 23...
2017: PloS One
https://www.readbyqxmd.com/read/28344030/antibacterial-activity-of-medicinal-plants-from-the-physicians-of-myddvai-a-13-th-century-welsh-medical-manuscript
#2
Charles Wagner, Jillian De Gezelle, Maureen Robertson, Keith Robertson, Mickey Wilson, Slavko Komarnytsky
ETHNOPHARMACOLOGICAL RELEVANCE: Antimicrobial drug resistance is a growing threat to global public health. Historical records and herbal texts relating to traditional Celtic medicine indicate an extensive pharmacopeia of plants for treating infections likely caused by microbes. However, a major barrier for successful integration of these remedies into mainstream practice is the current lack of accurate interpretation and scientific validation. MATERIALS AND METHODS: We applied Mobile Discovery approach to the Isle of Arran, Scotland, for in situ targeted screening of 83 out of 138 plants identified in Meddygion Myddvai (a 13(th) century Welsh manuscript) to treat conditions related to microbial infections, and an additional 18 plants from modern ethnobotanical knowledge on the island...
March 24, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28341999/immunological-memory-to-hyperphosphorylated-tau-in-asymptomatic-individuals
#3
Gabriel Pascual, Jehangir S Wadia, Xueyong Zhu, Elissa Keogh, Başak Kükrer, Jeroen van Ameijde, Hanna Inganäs, Berdien Siregar, Gerrard Perdok, Otto Diefenbach, Tariq Nahar, Imke Sprengers, Martin H Koldijk, Els C Brinkman-van der Linden, Laura A Peferoen, Heng Zhang, Wenli Yu, Xinyi Li, Michelle Wagner, Veronica Moreno, Julie Kim, Martha Costa, Kiana West, Zara Fulton, Lucy Chammas, Nancy Luckashenak, Lauren Fletcher, Trevin Holland, Carrie Arnold, R Anthony Williamson, Jeroen J Hoozemans, Adrian Apetri, Frederique Bard, Ian A Wilson, Wouter Koudstaal, Jaap Goudsmit
Several reports have described the presence of antibodies against Alzheimer's disease-associated hyperphosphorylated forms of tau in serum of healthy individuals. To characterize the specificities that can be found, we interrogated peripheral IgG(+) memory B cells from asymptomatic blood donors for reactivity to a panel of phosphorylated tau peptides using a single-cell screening assay. Antibody sequences were recovered, cloned, and expressed as full-length IgGs. In total, 52 somatically mutated tau-binding antibodies were identified, corresponding to 35 unique clonal families...
March 24, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28341474/anti-vascular-endothelial-growth-factor-therapy-for-primary-treatment-of-type-1-retinopathy-of-prematurity-a-report-by-the-american-academy-of-ophthalmology
#4
Deborah K VanderVeen, Michele Melia, Michael B Yang, Amy K Hutchinson, Lorri B Wilson, Scott R Lambert
PURPOSE: To review the available evidence on the ocular safety and efficacy of anti-vascular endothelial growth factor (VEGF) agents for the treatment of retinopathy of prematurity (ROP) compared with laser photocoagulation therapy. METHODS: A literature search of the PubMed and Cochrane Library databases was conducted last on September 6, 2016, with no date restrictions and limited to articles published in English. This search yielded 311 citations, of which 37 were deemed clinically relevant for full-text review...
March 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28335021/mri-visible-perivascular-space-location-is-associated-with-alzheimer-s-disease-independently-of-amyloid-burden
#5
Gargi Banerjee, Hee Jin Kim, Zoe Fox, H Rolf Jäger, Duncan Wilson, Andreas Charidimou, Han Kyu Na, Duk L Na, Sang Won Seo, David J Werring
Perivascular spaces that are visible on magnetic resonance imaging (MRI) are a neuroimaging marker of cerebral small vessel disease. Their location may relate to the type of underlying small vessel pathology: those in the white matter centrum semi-ovale have been associated with cerebral amyloid angiopathy, while those in the basal ganglia have been associated with deep perforating artery arteriolosclerosis. As cerebral amyloid angiopathy is an almost invariable pathological finding in Alzheimer's disease, we hypothesized that MRI-visible perivascular spaces in the centrum semi-ovale would be associated with a clinical diagnosis of Alzheimer's disease, whereas those in the basal ganglia would be associated with subcortical vascular cognitive impairment...
February 17, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28331003/phase-i-dose-escalation-study-of-taselisib-gdc-0032-an-oral-pi3k-inhibitor-in-patients-with-advanced-solid-tumors
#6
Dejan Juric, Ian Krop, Ramesh K Ramanathan, Timothy R Wilson, Joseph A Ware, Sandra Sanabria Bohorquez, Heidi Savage, Deepak Sampath, Laurent Salphati, Ray Lin, Huan Jin, Hema Parmar, Jerry Y Hsu, Daniel D Von Hoff, José Baselga
Taselisib is a potent and selective tumor growth inhibitor through PI3K pathway suppression. Thirty-four patients with locally advanced or metastatic solid tumors were treated (phase I study, modified 3+3 dose escalation; 5 cohorts; 3-16 mg taselisib once daily capsule). Taselisib pharmacokinetics were dose-proportional; mean half-life was 40 hours. Frequent dose-dependent, treatment-related adverse events included diarrhea, hyperglycemia, decreased appetite, nausea, rash, stomatitis, and vomiting. At 12 and 16 mg dose levels, dose limiting toxicities (DLT) were observed, with an accumulation of higher-grade adverse events after the cycle 1 DLT assessment window...
March 22, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28330624/managing-pre-symptomatic-wilson-disease-in-genetic-era-more-questions-than-answers
#7
Nedim Hadžić, Maesha Deheragoda, Anil Dhawan
No abstract text is available yet for this article.
March 18, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28329856/adult-day-center-programs-and-their-associated-outcomes-on-clients-caregivers-and-the-health-system-a-scoping-review
#8
Moriah E Ellen, Peter Demaio, Ariella Lange, Michael G Wilson
Purpose of the Study: Adult day centers (ADCs) offer a heterogeneous group of services that provide for the daily living, care, nutritional, and social needs of older adults. We sought to conceptually map and identify key gaps and findings from literature focused on ADCs, including the types of programs that exist and their associated outcomes on improving health and strengthening health systems. Design and Methods: We conducted a scoping review by searching 5 databases for studies evaluating the outcomes of ADCs specifically for community-dwelling older adults...
March 17, 2017: Gerontologist
https://www.readbyqxmd.com/read/28329355/international-recommendations-for-electrocardiographic-interpretation-in-athletes
#9
Sanjay Sharma, Jonathan A Drezner, Aaron Baggish, Michael Papadakis, Mathew G Wilson, Jordan M Prutkin, Andre La Gerche, Michael J Ackerman, Mats Borjesson, Jack C Salerno, Irfan M Asif, David S Owens, Eugene H Chung, Michael S Emery, Victor F Froelicher, Hein Heidbuchel, Carmen Adamuz, Chad A Asplund, Gordon Cohen, Kimberly G Harmon, Joseph C Marek, Silvana Molossi, Josef Niebauer, Hank F Pelto, Marco V Perez, Nathan R Riding, Tess Saarel, Christian M Schmied, David M Shipon, Ricardo Stein, Victoria L Vetter, Antonio Pelliccia, Domenico Corrado
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural, or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete...
February 20, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28329001/experimental-demonstration-of-the-possible-role-of-acanthamoeba-polyphaga-in-the-infection-and-disease-progression-in-buruli-ulcer-bu-using-icr-mice
#10
Bright K Azumah, Phyllis G Addo, Alfred Dodoo, Gordon Awandare, Lydia Mosi, Daniel A Boakye, Michael D Wilson
The transmission of Buruli ulcer (BU), caused by Mycobacterium ulcerans (MU), remains puzzling although a number of hypothesis including through bites of infected aquatic insects have been proposed. We report the results of experiments using ICR mice that give credence to our hypothesis that Acanthamoeba species may play a role in BU transmission. We cocultured MU N2 and MU 1615 which expresses red fluorescent protein (RFP) and Acanthamoeba polyphaga (AP), and confirmed infected AP by Ziehl-Neelsen (ZN) staining...
2017: PloS One
https://www.readbyqxmd.com/read/28326208/a-child-as-a-donor-for-hematopoietic-stem-cell-transplantation-bioethical-justification-a-case-study-on-sickle-cell-disease
#11
Andrea Z Pereira, Ricardo Hellman, Nelson Hamerschlak, Andrea Kondo, Polianna Mara Rodrigues de Souza, Wilson Leite Pedreira, Luiz Fernando Alves Lima Mantovani, Eduardo Juan Troster, Henrique Grunspun, Marco Aurélio Scarpinella Bueno
Hematopoietic stem cell transplantation (HSCT) is an important treatment option for children with severe and refractory sickle cell disease (SCD) with debilitating clinical complications. HSCT with cells from the bone marrow of a HLA-identical sibling used in SCD has a low mortality risk, high cure rate, and high event-free survival rate after a median follow-up of 5-6 years. However, matched donors are found in only about 20% of the patients. A boy aged 8 years with SCD had a sister, <2 years old, a fully compatible donor...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28326205/shigella-sonnei-bacteremia-presenting-with-profound-hepatic-dysfunction
#12
Oluwaseun Shogbesan, Andrew Rettew, Bilal Shaikh, Abdullateef Abdulkareem, Anthony Donato
Worldwide, Shigellosis is a significant public health issue, associated with nearly one million deaths annually. About half a million cases of Shigella infection are reported annually in the United States. Shigella bacteremia is uncommon and generally seen in children and immunocompromised adults. We present a case of a Shigella sonnei bacteremia with marked hepatic derangement in a 27-year-old previously healthy homosexual male with history of Roux-en-Y gastric bypass, who presented to the emergency room with a 4-day history of loose watery stool, abdominal cramps, nausea and vomiting, and yellow skin of 2-day duration...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28323831/genetic-assessment-of-age-associated-alzheimer-disease-risk-development-and-validation-of-a-polygenic-hazard-score
#13
Rahul S Desikan, Chun Chieh Fan, Yunpeng Wang, Andrew J Schork, Howard J Cabral, L Adrienne Cupples, Wesley K Thompson, Lilah Besser, Walter A Kukull, Dominic Holland, Chi-Hua Chen, James B Brewer, David S Karow, Karolina Kauppi, Aree Witoelar, Celeste M Karch, Luke W Bonham, Jennifer S Yokoyama, Howard J Rosen, Bruce L Miller, William P Dillon, David M Wilson, Christopher P Hess, Margaret Pericak-Vance, Jonathan L Haines, Lindsay A Farrer, Richard Mayeux, John Hardy, Alison M Goate, Bradley T Hyman, Gerard D Schellenberg, Linda K McEvoy, Ole A Andreassen, Anders M Dale
BACKGROUND: Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. METHODS AND FINDINGS: Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10-5)...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28322662/engaging-adults-with-chronic-disease-in-online-depressive-symptom-self-management
#14
Marian Wilson, Casey Hewes, Celestina Barbosa-Leiker, Anne Mason, Katherine A Wuestney, Jessica A Shuen, Michael P Wilson
The main purpose of this study was to evaluate participant engagement and effects of an Internet-based, self-directed program for depressive symptoms piloted among adults with a chronic disease. Eligible participants ( N = 47) were randomly assigned to either the "Think Clearly About Depression" online depression self-management program or the control group. The Patient Health Questionnaire-8 and Chronic Disease Self-Efficacy Scales were administered at baseline and at Weeks 4 and 8 after initiating the intervention...
January 1, 2017: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28322632/cost-effectiveness-of-a-care-transition-intervention-among-multimorbid-patients
#15
Lani Zimmerman, Fernando A Wilson, Myra S Schmaderer, Leeza Struwe, Bunny Pozehl, Audrey Paulman, Lisa C Bratzke, Kim Moore, Libby Raetz, Barb George
The purpose of this pilot study was to assess the cost-effectiveness of four different doses (based on patients' level of cognition and activation) of a home-based care transitions intervention compared with usual care at 2 and 6 months after hospital discharge to home for 126 adult patients with three or more chronic diseases. Health care utilization was measured, and a cost-effectiveness analysis was used to estimate incremental costs and quality-adjusted life-years associated with each intervention arm. At 6 months, results from this pilot study are very promising and support cost-effectiveness for Group 2-low cognition/high activation, Group 3-normal cognition/low activation, and Group 4-normal cognition/high activation patients...
October 1, 2016: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28321136/procarbazine-lomustine-and-vincristine-pcv-regimen-for-central-nervous-system-tumors
#16
Dominic A Solimando, J Aubrey Waddell
The complexity of cancer chemotherapy requires pharmacists be familiar with the complicated regimens and highly toxic agents used. This column reviews various issues related to preparation, dispensing, and administration of antineoplastic therapy, and the agents, both commercially available and investigational, used to treat malignant diseases. Questions or suggestions for topics should be addressed to Dominic A. Solimando, Jr, President, Oncology Pharmacy Services, Inc., 4201 Wilson Blvd #110-545, Arlington, VA 22203, e-mail: OncRxSvc@comcast...
February 2017: Hospital Pharmacy
https://www.readbyqxmd.com/read/28320873/sav1-loss-induces-senescence-and-stat3-activation-coinciding-with-tubulointerstitial-fibrosis
#17
Janet Y Leung, Harper L Wilson, Kristin J Voltzke, Lindsay A Williams, Hyo Jin Lee, Sara E Wobker, William Y Kim
Tubulointerstitial fibrosis (TIF) is recognized as a final phenotypic manifestation in the transition from chronic kidney disease (CKD) to end-stage renal disease (ESRD). Here, we show that conditional inactivation of Sav1 in the mouse renal epithelium resulted in upregulated expression of profibrotic genes and TIF. Loss of Sav1 induced Stat3 activation and a senescence-associated secretory phenotype (SASP) that coincided with the development of tubulointerstitial fibrosis. Treatment of mice with the YAP inhibitor, Verteporfin (VP), inhibited activation of genes associated with senescence, SASP and activation of Stat3 as well as impeded the development of fibrosis...
March 20, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28319445/nonclinical-pharmacology-toxicology-study-of-aav8-tbg-mldlr-and-aav8-tbg-hldlr-in-a-mouse-model-of-homozygous-familial-hypercholesterolemia
#18
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
The homozygous form of familial hypercholesterolemia (HoFH) is an excellent model for developing in vivo gene therapy in humans. The success of orthotropic liver transplantation in correcting the metabolic abnormalities in HoFH suggests that the correction of low-density lipoprotein receptor (LDLR) expression in hepatocytes via gene therapy should be sufficient for therapeutic efficacy. Vectors based on adeno-associated virus serotype 8 (AAV8) have been previously developed for liver-targeted gene therapy of a number of genetic diseases, including HoFH...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28319109/the-broad-study-a-randomised-controlled-trial-using-a-whole-food-plant-based-diet-in-the-community-for-obesity-ischaemic-heart-disease-or-diabetes
#19
N Wright, L Wilson, M Smith, B Duncan, P McHugh
BACKGROUND/OBJECTIVE: There is little randomised evidence using a whole food plant-based (WFPB) diet as intervention for elevated body mass index (BMI) or dyslipidaemia. We investigated the effectiveness of a community-based dietary programme. Primary end points: BMI and cholesterol at 6 months (subsequently extended). SUBJECTS: Ages 35-70, from one general practice in Gisborne, New Zealand. Diagnosed with obesity or overweight and at least one of type 2 diabetes, ischaemic heart disease, hypertension or hypercholesterolaemia...
March 20, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28318680/nephrogenic-systemic-fibrosis-a-15-year-retrospective-study-at-a-single-tertiary-care-center
#20
Janice Wilson, Kristyna Gleghorn, Quincy Seigel, Brent Kelly
BACKGROUND: Despite multiple therapeutic approaches for nephrogenic systemic fibrosis (NSF), no single treatment has convincingly shown consistent benefit. The most successful outcomes have been associated with recovery of renal function, although evidence remains limited and past studies have been inconclusive. OBJECTIVE: We sought to investigate whether improvement of renal function via successful transplantation or via return of renal function after acute kidney injury correlates with improvement of NSF, and to further characterize the clinical features and progression of NSF...
March 15, 2017: Journal of the American Academy of Dermatology
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