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Jun Ma, Bin Chen, Dong Li, Yue Zhang, Zhaoxia Ying
Port-wine stain (PWS) birthmark is a congenital microvascular malformation of the skin. A 1064-nm Nd:YAG laser can achieve a deeper treatment, but the weak absorption by blood limits its clinical application. Multiple laser pulses (MLPs) are a potential solution to enhance the curative effect of a Nd:YAG laser. To reduce the pulse number (pn ) required for the thermal destruction of the blood vessel, the effect of glucose in conjunction with MLP was investigated. In vivo experiments were performed on a dorsal skin chamber model...
March 14, 2018: Lasers in Medical Science
Qiuju Wu, Ping Tu, Guoyu Zhou, Huilan Yang, Zhanchao Zhou, Yi Zhao, Qingshan Zheng, Ying Gu, Jining Tao, Xuejun Zhu
BACKGROUND/PURPOSE: Previous studies have shown that hemoporfin-mediated photodynamic therapy (PDT) was a treatment for port-wine stain (PWS). Our current study aimed to identify optimal hemoporfin dose. METHODS: A prospective, multicenter, double-blind, randomized clinical trial was conducted. Patients were assigned into low or high dose hemoporfin (2.5 mg/kg and 5 mg/kg intravenously, respectively), or control (placebo) group, at a rate of 2: 2: 1. Treatment efficacy was evaluated at week 8...
March 13, 2018: Photodermatology, Photoimmunology & Photomedicine
Stacy Pelekhaty, Jay Menaker
Prader-Willi Syndrome (PWS) is a genetic condition that results in a constellation of symptoms and typically results in hyperphagia and obesity in adulthood. Critically ill adults with PWS present a unique challenge to the nutrition professional, particularly when they require support modalities such as extracorporeal membrane oxygenation (ECMO). The purpose of this case study is to review the nutrition care of a critically ill adult patient with PWS who required venovenous ECMO. The patient was successfully managed with a hypocaloric, high-protein approach, which did not result in the diagnosis of malnutrition during his hospitalization...
March 12, 2018: Nutrition in Clinical Practice
Katherine E Manning, Roger Tait, John Suckling, Anthony J Holland
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a characteristic overeating disorder, mild to moderate intellectual disability, and a variable range of social and behavioral difficulties. Consequently, widespread alterations in neural structure and developmental and maturational trajectory would be expected. To date, there have been few quantitative and systematic studies of brain morphology in PWS, although alterations of volume and of cortical organisation have been reported...
2018: NeuroImage: Clinical
David Barry Hipgrave, Lukman Hendro Laksmono, Gita Maya Koemarasakti, Robin Nandy, Budhi Setiawan, Lukas Hermawan, Deswanto Marbun
District team problem solving (DTPS) was developed by WHO in the 1980s to explicitly engage local stakeholders in decentralized planning and, in later iterations, budgeting of health services. It became WHO's global flagship approach to district-level health priority-setting and planning. DTPS entails multisectoral stakeholders (the team) using local data to prioritize and fund services, and should enhance capacity in management of decentralized healthcare. From the late 1990s, DTPS evolved through several phases in Indonesia...
March 5, 2018: Health Policy and Planning
Eugènia Moix Gil, Olga Giménez-Palop, Assumpta Caixàs
INTRODUCTION: The Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in región 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients. OBJECTIVE: To review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults...
March 3, 2018: Endocrinología, Diabetes y Nutrición
Jocelyn M Bischof, Rachel Wevrick
Excess fat mass is a cardinal feature of Prader-Willi syndrome (PWS) that is recapitulated in the Magel2-null mouse model of this genetic disorder. There is a pressing need for drugs that can prevent or treat obesity in children with PWS. Recently, a clinical study of a controlled release form of the benzothiadiazine derivative diazoxide demonstrated improved metabolic parameters and decreased fat mass in obese children and adults with PWS. We tested whether chronic diazoxide administration can reduce fat mass and improve metabolism in mice lacking MAGEL2, a gene inactivated in PWS...
February 27, 2018: Molecular Genetics and Metabolism
John M McCarthy, Bonnie M McCann-Crosby, Megan E Rech, Jiani Yin, Chun-An Chen, May A Ali, HaiThuy N Nguyen, Jennifer L Miller, Christian P Schaaf
BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature...
March 1, 2018: Journal of Medical Genetics
Adam M Hyde, Robert G McMurray, Frank A Chavoya, Daniela A Rubin
PURPOSE: Prader-Willi syndrome (PWS) is a genetic neurobehavioral disorder presenting hypothalamic dysfunction and adiposity. At rest, PWS exhibits hypoventilation with hypercapnia. We characterized ventilatory responses in children with PWS during exercise. METHODS: Participants were children aged 7-12 years with PWS (n = 8) and without PWS with normal weight (NW; n = 9, body mass index ≤ 85th percentile) or obesity (n = 9, body mass index ≥ 95th percentile)...
February 27, 2018: Pediatric Exercise Science
Lisa A Golding, Kitty McKnight, Monique Binet, Merrin Adams, Simon C Apte
Barium is present at elevated concentrations in oil and gas produced waters (PWs) and has no international water quality guideline value to assess the potential risk of adverse effects to aquatic biota. Sulfate concentration largely controls the solubility of barium in aquatic systems with insoluble barium sulfate (barite) assumed to be less bioavailable and less toxic than dissolved barium. We exposed aquatic biota to dissolved barium only and to a mixture of dissolved and precipitated barium. The chronic dissolved barium 48-h growth rate inhibition EC10 and EC50 values for the tropical freshwater alga Chlorella sp...
February 5, 2018: Environmental Toxicology and Chemistry
Scott Gladstein, Andrew Stawarz, Luay M Almassalha, Lusik Cherkezyan, John E Chandler, Xiang Zhou, Hariharan Subramanian, Vadim Backman
Despite extensive research in the area, current understanding of the structural organization of higher-order chromatin topology (between 20 and 200 nm) is limited due to a lack of proper imaging techniques at these length scales. The organization of chromatin at these scales defines the physical context (nanoenvironment) in which many important biological processes occur. Improving our understanding of the nanoenvironment is crucial because it has been shown to play a critical functional role in the regulation of chemical reactions...
2018: Methods in Molecular Biology
Alan Morris
No abstract text is available yet for this article.
February 23, 2018: Nature Reviews. Endocrinology
Parisa Salehi, Dale Lee, Lusine Ambartsumyan, Natalie Sikka, Ann O Scheimann
Prader-Willi syndrome (PWS) is a genetic syndrome in which individuals have multisystem medical challenges. Gastroenterological difficulties in the syndrome include decreased vomiting, constipation, delayed gastric emptying, delayed colonic transit, dysphagia, increased choking, and increased risk of gastric dilation and rupture. In addition, self-injurious behavior such as rectal picking may be present and severe enough to lead to rectal ulceration and bleeding. Many patients have extensive gastroenterological workup and treatment before their ultimate diagnosis of severe rectal picking...
February 21, 2018: Journal of Pediatric Gastroenterology and Nutrition
M Boccellino, D Di Stasio, R Serpico, A Lucchese, A Guida, G Settembre, M Di Domenico, A Rizzo
Patients affected by Prader-Willi Syndrome (PWS) usually show orofacial dysfunction, poor oral hygiene, severe tooth wear, generalized caries and thick sticky saliva. The aim of this study was to evaluate molecular/ionic changings in PWS patients compared to controls, as well as unstimulated salivary flow rate (SFR); 7 patients with a mean age of 20.0±5.45 years were enrolled in the study group (PWS group) and 5 patients with a mean age of 22.6±3.05 years, in the control group. Results showed a greater Na+ (p=0...
January 2018: Journal of Biological Regulators and Homeostatic Agents
Michael Thoma, Jay Frentress, Massimo Tagliavini, Francesca Scandellari
We used pore water samplers (PWS) to sample for isotope analysis (1) only water, (2) soil under laboratory conditions, and (3) soil in the field comparing the results with cryogenic extraction (CE). In (1) and (2), no significant differences between source and water extracted with PWS were detected with a mean absolute difference (MAD) always lower than 2 ‰ for δ 2 H and 1 ‰ for δ 18 O. In (2), CE water was more enriched than PWS-extracted water, with a MAD respect to source water of roughly 8 ‰ for δ 2 H and 4 ‰ for δ 18 O...
February 15, 2018: Isotopes in Environmental and Health Studies
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
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
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
Jennifer L Guelfo, David T Adamson
The United States Environmental Protection Agency (USEPA) completed nationwide screening of six perfluoroalkyl substances in U.S. drinking water from 2013 to 2015 under the Third Unregulated Contaminant Monitoring Rule (UCMR3). UCMR3 efforts yielded a dataset of 36,139 samples containing analytical results from >5000 public water systems (PWSs). This study used UCMR3 data to investigate three aspects of per- and polyfluoroalkyl substances (PFASs) in drinking water: the occurrence of PFAS and co-contaminant mixtures, trends in PFAS detections relative to PWS characteristics and potential release types, and temporal trends in PFAS occurrence...
February 7, 2018: Environmental Pollution
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...
March 1, 2018: World Journal of Biological Psychiatry
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