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https://www.readbyqxmd.com/read/29443926/the-pleiotropic-effects-of-the-canonical-wnt-pathway-in-early-development-and-pluripotency
#1
REVIEW
Anchel de Jaime-Soguero, Willy Antoni Abreu de Oliveira, Frederic Lluis
The technology to derive embryonic and induced pluripotent stem cells from early embryonic stages and adult somatic cells, respectively, emerged as a powerful resource to enable the establishment of new in vitro models, which recapitulate early developmental processes and disease. Additionally, pluripotent stem cells (PSCs) represent an invaluable source of relevant differentiated cell types with immense potential for regenerative medicine and cell replacement therapies. Pluripotent stem cells support self-renewal, potency and proliferation for extensive periods of culture in vitro...
February 14, 2018: Genes
https://www.readbyqxmd.com/read/29441128/chromosomal-microarray-analysis-in-the-genetic-evaluation-of-279-patients-with-syndromic-obesity
#2
Carla Sustek D'Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Charles Marques Lourenço, Chong Ae Kim, Debora Romeo Bertola, Fernando Kok, Luis Garcia-Alonso, Celia Priszkulnik Koiffmann
Background: Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29440745/rapid-removal-of-ammonium-from-domestic-wastewater-using-polymer-hydrogels
#3
Heidy Cruz, Paul Luckman, Thomas Seviour, Willy Verstraete, Bronwyn Laycock, Ilje Pikaar
To date, technologies to recover ammonium from domestic wastewater from the mainstream have not found widespread application. This is largely due to the low ammonium concentrations in these wastewater streams. This paper reports on the use of polymer hydrogels for rapid sorption of ammonium from domestic wastewater coupled with efficient regeneration by mild acid washing. The sorption capacity of the hydrogel was 8.8-32.2 mg NH4-N/g, which corresponds to removal efficiencies ranging from 68% to 80% NH4-N, increasing proportionally with the initial ammonium concentration...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29439630/bedeutung-der-rehabilitation-aus-sozio%C3%A3-konomischer-sicht
#4
Willy Oggier
No abstract text is available yet for this article.
February 2018: Praxis
https://www.readbyqxmd.com/read/29437916/mobility-shift-of-beta-dystroglycan-as-a-marker-of-gmppb-gene-related-muscular-dystrophy
#5
Anna Sarkozy, Silvia Torelli, Rachael Mein, Matt Henderson, Rahul Phadke, Lucy Feng, Caroline Sewry, Pierpaolo Ala, Michael Yau, Marta Bertoli, Tracey Willis, Simon Hammans, Adnan Manzur, Maria Sframeli, Fiona Norwood, Wojtek Rakowicz, Aleksandar Radunovic, Sujit S Vaidya, Matt Parton, Mark Walker, Silvia Marino, Curtis Offiah, Maria Elena Farrugia, Godwin Mamutse, Chiara Marini-Bettolo, Elizabeth Wraige, David Beeson, Hanns Lochmüller, Volker Straub, Kate Bushby, Rita Barresi, Francesco Muntoni
BACKGROUND: Defects in glycosylation of alpha-dystroglycan (α-DG) cause autosomal-recessive disorders with wide clinical and genetic heterogeneity, with phenotypes ranging from congenital muscular dystrophies to milder limb girdle muscular dystrophies. Patients show variable reduction of immunoreactivity to antibodies specific for glycoepitopes of α-DG on a muscle biopsy. Recessive mutations in 18 genes, including guanosine diphosphate mannose pyrophosphorylase B ( GMPPB ), have been reported to date...
February 3, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29437709/prader-willi-syndrome-a-nest-for-premature-coronary-artery-disease
#6
Diogo Rodrigues Brás, Pedro Semedo, Bruno Cordeiro Piçarra, Renato Fernandes
Individuals affected by Prader-Willi syndrome (PWS) may show increased risk for coronary artery disease (CAD), which probably relates, at least, with high burden of cardiovascular risk factors.A 27-year-old man with PWS, obesity, hypertension, diabetes mellitus and dyslipidaemia attended the emergency department with complaints of flu-like condition and chest pain. The ECG revealed a mild ST-segment elevation in inferior leads, followed by positive myocardial necrosis biomarkers. Attending to the high cardiovascular risk profile, ST-segment elevation in inferior territory and wall motion abnormalities, a coronary angiogram was performed...
February 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29437285/three-siblings-with-prader-willi-syndrome-caused-by-imprinting-center-microdeletions-and-review
#7
Samantha N Hartin, Waheeda A Hossain, Nicolette Weisensel, Merlin G Butler
Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 15 with the majority of individuals having the 15q11-q13 region deleted. Examples of familial PWS have been reported but rarely. To date 13 families have been reported with more than one child with PWS and without a 15q11-q13 deletion secondary to a chromosome 15 translocation, inversion, or uniparental maternal disomy 15...
February 13, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29436406/management-of-suspected-paediatric-meningitis-a-multicentre-prospective-cohort-study
#8
Roshan Ramasamy, Louise Willis, Seilesh Kadambari, Dominic F Kelly, Paul T Heath, Simon Nadel, Andrew J Pollard, Manish Sadarangani
OBJECTIVE: To quantify delays during management of children with suspected meningitis. DESIGN: Multicentre prospective cohort study. SETTING: Three UK tertiary paediatric centres; June 2011-June 2012 PATIENTS: 388 children aged <16 years hospitalised with suspected meningitis or undergoing lumbar puncture (LP) during sepsis evaluation. MAIN OUTCOME MEASURES: Time of prehospital and in-hospital assessments, LP, antibiotic treatment and discharge; types of prehospital medical assessment and microbiological results...
February 7, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29435795/illicit-drug-users-in-the-tanzanian-hinterland-population-size-estimation-through-key-informant-driven-hot-spot-mapping
#9
Joel Ndayongeje, Amani Msami, Yovin Ivo Laurent, Syangu Mwankemwa, Moza Makumbuli, Alois M Ngonyani, Jenny Tiberio, Susie Welty, Christen Said, Meghan D Morris, Willi McFarland
We mapped hot spots and estimated the numbers of people who use drugs (PWUD) and who inject drugs (PWID) in 12 regions of Tanzania. Primary (ie, current and past PWUD) and secondary (eg, police, service providers) key informants identified potential hot spots, which we visited to verify and count the number of PWUD and PWID present. Adjustments to counts and extrapolation to regional estimates were done by local experts through iterative rounds of discussion. Drug use, specifically cocaine and heroin, occurred in all regions...
February 12, 2018: AIDS and Behavior
https://www.readbyqxmd.com/read/29435794/emergency-contraceptive-pills-ecp-knowledge-attitudes-and-practices-among-women-working-in-the-entertainment-industry-and-men-in-the-trucking-industry-bhutan
#10
Deki Pem, Tshewang Nidup, Ugyen Wangdi, Dorji Pelzom, Ali Mirzazadeh, Willi McFarland
Emergency contraceptive pills (ECP) were recently made available over the counter in Bhutan. We evaluated knowledge, attitudes, and practices concerning ECP in 2 populations at risk for HIV and STI (sexually transmitted infections): entertainment women (drayang) and male truck drivers and helpers (truckers). Of 179 drayang and 437 truckers intercepted at venues, 73.7 and 21.1%, respectively, had heard of ECP; 47.0% of drayang had used them. Their concerns about ECP use included harm to the body, impact on future pregnancy, side effects, and HIV/STI risk...
February 12, 2018: AIDS and Behavior
https://www.readbyqxmd.com/read/29434687/is-fetal-type-posterior-cerebral-artery-a-risk-factor-for-intracranial-aneurysm-as-analyzed-by-multislice-ct-angiography
#11
Zhen He, Yeda Wan
Fetal-type posterior cerebral artery (FTP) is a common anatomic variation that is closely associated with intracranial aneurysm. In the present study, multislice computed tomography angiography (CTA) was performed to assess whether FTP is a risk factor for intracranial aneurysm. CTA data of 364 consecutive cases of patients who were suspected with cerebrovascular disease or intracranial aneurysm of intracranial artery from 2013 to 2016 were reviewed and the incidence rates of FTP, other variations of the circle of Willis, intracranial aneurysm and FTP with intracranial aneurysm were evaluated...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29434568/restless-legs-syndrome-willis-ekbom-disease-is-prevalent-in-working-nurses-but-seems-not-to-be-associated-with-shift-work-schedules
#12
Siri Waage, Ståle Pallesen, Bente Elisabeth Moen, Bjørn Bjorvatn
Insomnia and excessive sleepiness are among the most commonly reported sleep problems related to shift work. Sleep-related movement disorders have, however, received far less attention in relation to such work schedules. The objective of this study was to investigate the association between different shift work schedules and the prevalence of Restless legs syndrome/Willis-Ekbom disease (RLS/WED) in a large sample of Norwegian nurses. Our hypothesis was that shift working nurses would report higher prevalence of RLS/WED compared to day workers...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29434405/inclusion-of-2-mercaptoethanol-in-lysis-buffer-could-interfere-with-isolation-of-high-molecular-weight-dna-from-freshwater-microalgae
#13
Willy Yee, Janushree Nanda Kumar, Priya Devi Muthusamy
2-mercaptoethanol (2-ME), alongside polyvinylpyrrolidone is commonly used in plant DNA extractions to deal with polyphenols, which could interfere with extraction and downstream applications. 2-ME is also commonly used to denature proteins and nucleases, especially RNAses. On the contrary, we found that the presence of 2-ME in lysis buffer interfered with DNA extraction from 12 strains of freshwater microalgae, resulting in DNA with poor integrity. We also found that the TNES-urea buffer, commonly used for preservation and DNA extraction from fish, appears as effective as the SDS and CTAB buffer for some microalgae strains...
March 2018: Indian Journal of Microbiology
https://www.readbyqxmd.com/read/29433608/brain-stem-serotonin-transporter-availability-in-maternal-uniparental-disomy-and-deletion-prader-willi-syndrome
#14
Rajeev Krishnadas, Sally-Ann Cooper, Alice Nicol, Sally Pimlott, Sarita Soni, Anthony J Holland, Laura McArthur, Jonathan Cavanagh
Prader-Willi syndrome (PWS) is a rare condition because of the deletion of paternal chromosomal material (del PWS), or a maternal uniparental disomy (mUPD PWS), at 15q11-13. Affective psychosis is more prevalent in mUPD PWS. We investigated the relationship between the two PWS genetic variants and brain-stem serotonin transporter (5-HTT) availability in adult humans. Mean brain-stem 5-HTT availability determined by [123I]-beta-CIT single photon emission tomography was lower in eight adults with mUPD PWS compared with nine adults with del PWS (mean difference -0...
January 2018: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/29432626/satisfaction-motivation-and-retention-in-academic-faculty-incentive-compensation-systems-a-cera-survey
#15
Deanna Willis, Jane Williams, Kevin Gebke, George Bergus
BACKGROUND AND OBJECTIVES: The use of incentive compensation in academic family medicine has been a topic of interest for many years, yet little is known about the impact of these systems on individual faculty members. Better understanding is needed about the relationship of incentive compensation systems (ICSs) to ICS satisfaction, motivation, and retention among academic family medicine faculty. METHODS: The Council of Academic Family Medicine (CAFM) Educational Research Alliance (CERA) conducted a nationwide survey of its members in 2013...
February 2018: Family Medicine
https://www.readbyqxmd.com/read/29431903/intimate-partner-violence-sexual-autonomy-and-postpartum-std-prevention-among-young-couples-a-mediation-analysis
#16
Tiara C Willie, Tamora A Callands, Trace S Kershaw
CONTEXT: The transition to parenthood is a stressful time for young couples and can put them at risk for acquiring STDs. Mechanisms underlying this risk-particularly, intimate partner violence (IPV) and sexual autonomy-have not been well studied. METHODS: Between 2007 and 2011, a prospective cohort study of the relationships and health of pregnant adolescents and their male partners recruited 296 couples at four hospital-based obstetrics and gynecology clinics in the U...
February 12, 2018: Perspectives on Sexual and Reproductive Health
https://www.readbyqxmd.com/read/29431698/mef2c-phosphorylation-is-required-for-chemotherapy-resistance-in-acute-myeloid-leukemia
#17
Fiona C Brown, Eric Still, Richard P Koche, Christina Y Yim, Sumiko Takao, Paolo Cifani, Casie Reed, Shehana Gunasekera, Scott B Ficarro, Peter Romanienko, Willie Mark, Craig McCarthy, Elisa de Stanchina, Mithat Gonen, Venkatraman Seshan, Patrick Bhola, Conor O'Donnell, Barbara Spitzer, Crystal Stutzke, Vincent-Philippe Lavallée, Josée Hébert, Andrei V Krivstov, Ari Melnick, Elisabeth M Paietta, Martin S Tallman, Anthony Letai, Guy Sauvageau, Gayle Pouliot, Ross Levine, Jarrod A Marto, Scott A Armstrong, Alex Kentsis
In acute myeloid leukemia, chemotherapy resistance remains prevalent and poorly understood. Using functional proteomics of patient AML specimens, we identified MEF2C S222 phosphorylation as a specific marker of primary chemoresistance. We found that Mef2c S222A/S222A knock-in mutant mice engineered to block MEF2C phosphorylation exhibited normal hematopoiesis, but were resistant to leukemogenesis induced by MLL-AF9. MEF2C phosphorylation was required for leukemia stem cell maintenance, and induced by MARK kinases in cells...
February 5, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29430642/should-structured-exercise-be-promoted-as-a-model-of-care-dissemination-of-the-department-of-veterans-affairs-gerofit-program
#18
Miriam C Morey, Cathy C Lee, Steven Castle, Willy M Valencia, Leslie Katzel, Jamie Giffuni, Teresa Kopp, Heather Cammarata, Michelle McDonald, Kris A Oursler, Timothy Wamsley, Chani Jain, Janet P Bettger, Megan Pearson, Kenneth M Manning, Orna Intrator, Peter Veazie, Richard Sloane, Jiejin Li, Daniel C Parker
Exercise provides a wide range of health-promoting benefits, but support is limited for clinical programs that use exercise as a means of health promotion. This stands in contrast to restorative or rehabilitative exercise, which is considered an essential medical service. We propose that there is a place for ongoing, structured wellness and health promotion programs, with exercise as the primary therapeutic focus. Such programs have long-lasting health benefits, are easily implementable, and are associated with high levels of participant satisfaction...
February 12, 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29425576/evidence-based-and-consensus-clinical-practice-guidelines-for-the-iron-treatment-of-restless-legs-syndrome-willis-ekbom-disease-in-adults-and-children-an-irlssg-task-force-report
#19
Richard P Allen, Daniel L Picchietti, Michael Auerbach, Yong Won Cho, James R Connor, Christopher J Earley, Diego Garcia-Borreguero, Suresh Kotagal, Mauro Manconi, William Ondo, Jan Ulfberg, John W Winkelman
BACKGROUND: Brain iron deficiency has been implicated in the pathophysiology of RLS, and current RLS treatment guidelines recommend iron treatment when peripheral iron levels are low. In order to assess the evidence on the oral and intravenous (IV) iron treatment of RLS and periodic limb movement disorder (PLMD) in adults and children, the International Restless Legs Syndrome Study Group (IRLSSG) formed a task force to review these studies and provide evidence-based and consensus guidelines for the iron treatment of RLS in adults, and RLS and PLMD in children...
January 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29425059/prader-willi-syndrome-and-angelman-syndrome-visualisation-of-the-molecular-pathways-for-two-chromosomal-disorders
#20
Friederike Ehrhart, Kelly J M Janssen, Susan L Coort, Chris T Evelo, Leopold M G Curfs
OBJECTIVES: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two syndromes that are caused by the same chromosomal deletion on 15q11.2-q13. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Patients of both disorders exhibit hypotonia in neonatal stage, delay in development and hypopigmentation. Typical features for PWS include hyperphagia, which leads to obesity, the major cause of mortality, and hypogonadism...
February 9, 2018: World Journal of Biological Psychiatry
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