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https://www.readbyqxmd.com/read/28427039/low-dose-growth-hormone-treatment-in-infants-and-toddlers-with-prader-willi-syndrome-is-comparable-to-higher-dosage-regimens
#1
Elly Scheermeyer, Mark Harris, Ian Hughes, Patricia A Crock, Geoffrey Ambler, Charles F Verge, Phil Bergman, George Werther, Maria E Craig, Catherine S Choong, Peter S W Davies
OBJECTIVE: Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very young children with Prader-Willi Syndrome (PWS). DESIGN: Prospective longitudinal clinical intervention. METHODS: We evaluated 31 infants (aged 2-12months) and 42 toddlers (13-24months) from the PWS-OZGROW database for height, weight and BMI using the World Health Organization standard deviation scores (SDSWHO) and PWS specific BMI (SDSPWS), bone age, insulin-like growth factor 1 (IGF-I) levels and adverse events over 3years of GHT...
March 24, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28400266/eeg-mu-%C3%A2%C2%B5-rhythm-spectra-and-oscillatory-activity-differentiate-stuttering-from-non-stuttering-adults
#2
Tim Saltuklaroglu, Ashley W Harkrider, David Thornton, David Jenson, Tiffani Kittilstved
Stuttering is linked to sensorimotor deficits related to internal modeling mechanisms. This study compared spectral power and oscillatory activity of EEG mu (μ) rhythms between persons who stutter (PWS) and controls in listening and auditory discrimination tasks. EEG data were analyzed from passive listening in noise and accurate (same/different) discrimination of tones or syllables in quiet and noisy backgrounds. Independent component analysis identified left and/or right μ rhythms with characteristic alpha (α) and beta (β) peaks localized to premotor/motor regions in 23 of 27 people who stutter (PWS) and 24 of 27 controls...
April 8, 2017: NeuroImage
https://www.readbyqxmd.com/read/28394773/occupational-contact-dermatitis-in-north-american-production-workers-referred-for-patch-testing-retrospective-analysis-of-cross-sectional-data-from-the-north-american-contact-dermatitis-group-1998-to-2014
#3
Erin M Warshaw, Solveig L Hagen, Joel G DeKoven, Kathryn A Zug, Denis Sasseville, Donald V Belsito, Matthew J Zirwas, Joseph F Fowler, James S Taylor, Anthony F Fransway, Vincent A DeLeo, James G Marks, Melanie D Pratt, Howard I Maibach, C G Toby Mathias
BACKGROUND: Little is known about the epidemiology of contact dermatitis in production workers (PWs). OBJECTIVE: The aims of this study were to estimate the prevalence of contact dermatitis and characterize clinically relevant and occupationally related allergens among North American PWs undergoing patch testing. METHODS: This was a retrospective cross-sectional analysis of North American Contact Dermatitis Group data from 1998 to 2014. RESULTS: Of 39,332 patch-tested patients, 2732 (7...
April 7, 2017: Dermatitis
https://www.readbyqxmd.com/read/28388282/combined-pulsed-dye-laser-and-fiberoptic-nd-yag-laser-for-the-treatment-of-hypertrophic-port-wine-stain
#4
Mohammed Radmanesh, Ramin Radmanesh
The hypertrophic port wine stain (PWS) is only partially and superficially treated with the Pulsed dye laser(PDL) because of its limited depth of penetration. We used combined PDL and fiberoptic 1444nm Nd-YAG laser to treat a case with hypertrophic PWS. METHOD: After tumescent anesthesia, few holes were made by a 16 gauge needle on different sides of the lesion. The fiberoptic tip was of 1444nm Nd-YAG laser was inserted within the holes and was pushed forward while triggering. In a fan pattern and by a back and forth movement, the subcutaneous and deep dermal areas were coagulated...
April 7, 2017: Journal of Cosmetic and Laser Therapy: Official Publication of the European Society for Laser Dermatology
https://www.readbyqxmd.com/read/28371242/oxytocin-treatment-in-children-with-prader-willi-syndrome-a-double-blind-placebo-controlled-crossover-study
#5
Jennifer L Miller, Roy Tamura, Merlin G Butler, Virginia Kimonis, Carlos Sulsona, June-Anne Gold, Daniel J Driscoll
Prader-Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems, increased anxiety, and compulsive behaviors. Individuals with PWS have a deficit of oxytocin producing neurons in the paraventricular nucleus of the hypothalamus. Oxytocin plays a role in regulation of feeding behaviors, social interactions, and emotional reactivity, which are all issues that significantly affect the quality of life for individuals with this syndrome...
March 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28361357/increasing-accuracy-of-pulse-transit-time-measurements-by-automated-elimination-of-distorted-photoplethysmography-waves
#6
Marit H N van Velzen, Arjo J Loeve, Sjoerd P Niehof, Egbert G Mik
Photoplethysmography (PPG) is a widely available non-invasive optical technique to visualize pressure pulse waves (PWs). Pulse transit time (PTT) is a physiological parameter that is often derived from calculations on ECG and PPG signals and is based on tightly defined characteristics of the PW shape. PPG signals are sensitive to artefacts. Coughing or movement of the subject can affect PW shapes that much that the PWs become unsuitable for further analysis. The aim of this study was to develop an algorithm that automatically and objectively eliminates unsuitable PWs...
March 30, 2017: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/28338743/incidental-memory-for-faces-in-children-with-different-genetic-subtypes-of-prader-willi-syndrome
#7
Alexandra P Key, Elisabeth M Dykens
The present study examined the effects of genetic subtype on social memory in children (7-16 years) with Prader-Willi syndrome (PWS). Visual event-related potentials (ERPs) during a passive viewing task were used to compare incidental memory traces for repeated vs single presentations of previously unfamiliar social (faces) and nonsocial (houses) images in 15 children with the deletion subtype and 13 children with maternal uniparental disomy (mUPD). While all participants perceived faces as different from houses (N170 responses), repeated faces elicited more positive ERP amplitudes ('old/new' effect, 250-500ms) only in children with the deletion subtype...
February 17, 2017: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/28336442/total-coliform-and-e-coli-in-public-water-systems-using-undisinfected-ground-water-in-the-united-states
#8
Michael J Messner, Philip Berger, Julie Javier
Public water systems (PWSs) in the United States generate total coliform (TC) and Escherichia coli (EC) monitoring data, as required by the Total Coliform Rule (TCR). We analyzed data generated in 2011 by approximately 38,000 small (serving fewer than 4101 individuals) undisinfected public water systems (PWSs). We used statistical modeling to characterize a distribution of TC detection probabilities for each of nine groupings of PWSs based on system type (community, non-transient non-community, and transient non-community) and population served (less than 101, 101-1000 and 1001-4100 people)...
March 14, 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28331554/altered-functional-resting-state-hypothalamic-connectivity-and-abnormal-pituitary-morphology-in-children-with-prader-willi-syndrome
#9
Akvile Lukoshe, Suzanne E van Dijk, Gerbrich E van den Bosch, Aad van der Lugt, Tonya White, Anita C Hokken-Koelega
BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28326188/physical-workload-is-associated-with-increased-risk-of-rheumatoid-arthritis-results-from-a-swedish-population-based-case-control-study
#10
Pingling Zeng, Lars Klareskog, Lars Alfredsson, Camilla Bengtsson
OBJECTIVES: This study investigated: (1) the association of physical workload (PW) and risk of rheumatoid arthritis (RA); (2) the potential interactions between PW and the genes in the human leucocyte antigen (HLA) region. METHODS: A population-based case-control study involving incident cases of RA (3150 cases and 5130 controls) was performed using data from the Swedish Epidemiological Investigation of Rheumatoid Arthritis. Information on 7 types of self-reported PW exposure and HLA-DRB1 genotypes of cases and controls were gathered...
2017: RMD Open
https://www.readbyqxmd.com/read/28323917/gh-treatment-in-children-with-prader-willi-syndrome-3-years-longitudinal-data-in-prepubertal-children-and-adult-height-data-from-kigs-database
#11
N E Bakker, A Lindberg, J Heissler, H A Wollmann, C Camacho-Hübner, A C Hokken-Koelega
Context: Longitudinal data of children with Prader-Willi syndrome (PWS) treated with Genotropin were registered in Pfizer-International-Growth-Database (KIGS). Objective: Evaluate efficacy and safety of GH-treatment in a unique large group of children with PWS. Design: Longitudinal data registered in KIGS, from 1987-2012. Setting: Worldwide retrospective cohort study. Patients: 522 prepubertal children treated with GH for 3 years and 173 children who had reached adult height...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28318603/rupture-risk-in-abdominal-aortic-aneurysms-a-realistic-assessment-of-the-explicit-gpu-approach
#12
V Strbac, D M Pierce, B Rodriguez-Vila, J Vander Sloten, N Famaey
Accurate estimation of peak wall stress (PWS) is the crux of biomechanically motivated rupture risk assessment for abdominal aortic aneurysms aimed to improve clinical outcomes. Such assessments often use the finite element (FE) method to obtain PWS, albeit at a high computational cost, motivating simplifications in material or element formulations. These simplifications, while useful, come at a cost of reliability and accuracy. We achieve research-standard accuracy and maintain clinically applicable speeds by using novel computational technologies...
February 27, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/28299717/physical-activity-and-maximal-oxygen-uptake-in-adults-with-prader-willi-syndrome
#13
Itai Gross, Harry J Hirsch, Naama Constantini, Shachar Nice, Yehuda Pollak, Larry Genstil, Talia Eldar-Geva, Varda Gross Tsur
BACKGROUND: Prader-Willi Syndrome (PWS) is the most common genetic syndrome causing life-threatening obesity. Strict adherence to a low-calorie diet and regular physical activity are needed to prevent weight gain. Direct measurement of maximal oxygen uptake (VO2 max), the "gold standard" for assessing aerobic exercise capacity, has not been previously described in PWS. OBJECTIVES: Assess aerobic capacity by direct measurement of VO2 max in adults with PWS, and in age and BMI-matched controls (OC), and compare the results with values obtained by indirect prediction methods...
March 16, 2017: Eating and Weight Disorders: EWD
https://www.readbyqxmd.com/read/28296064/box-c-d-small-nucleolar-rna-genes-and-the-prader-willi-syndrome-a-complex-interplay
#14
REVIEW
Jérôme Cavaillé
The nucleolus of mammalian cells contains hundreds of box C/D small nucleolar RNAs (SNORDs). Through their ability to base pair with ribosomal RNA precursors, most play important roles in the synthesis and/or activity of ribosomes, either by guiding sequence-specific 2'-O-methylations or by facilitating RNA folding and cleavages. A growing number of SNORD genes with elusive functions have been discovered recently. Intriguingly, the vast majority of them are located in two large, imprinted gene clusters at human chromosome region 15q11q13 (the SNURF-SNRPN domain) and at 14q32 (the DLK1-DIO3 domain) where they are expressed, respectively, only from the paternally and maternally inherited alleles...
March 13, 2017: Wiley Interdisciplinary Reviews. RNA
https://www.readbyqxmd.com/read/28287995/parameters-extracted-from-arterial-pulse-waves-as-markers-of-atherosclerotic-changes-performance-and-repeatability
#15
Mikko Peltokangas, Anca A Telembeci, Jarmo Verho, Ville M Mattila, Pekka Romsi, Antti Vehkaoja, Jukka Lekkala, Niku Oksala
Arterial diseases are significant and increasing cause of mortality and morbidity. In this study, we analyze and compare the discrimination capability of different arterial pulse wave (PW) based indices, both earlier proposed and novel ones, for describing the vascular health. The repeatability of the indices is also evaluated. Both volume PWs and dynamic pressure PWs are recorded by using photoplethysmographic and electromechanical film (EMFi) sensors connected to a wireless body sensor network. The study population consists of 82 subjects, 30 atherosclerotic patients and 52 control subjects...
March 8, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28285653/the-use-of-magnetic-resonance-imaging-to-characterize-abnormal-body-composition-phenotypes-in-youth-with-prader-willi-syndrome
#16
Camila E Orsso, Michelle Mackenzie, Angela S Alberga, Arya M Sharma, Lawrence Richer, Daniela A Rubin, Carla M Prado, Andrea M Haqq
INTRODUCTION: Magnetic resonance imaging (MRI) provides detailed assessment of body composition compartments. No studies have employed state-of-the-art MRI methods to accurately examine abdominal adipose tissue (AT) and skeletal muscle in youth with Prader-Willi syndrome (PWS). Therefore, this study aimed to describe AT distribution and skeletal muscle in the abdominal region of youth with PWS using MRI. METHODS: Anthropometric measures and whole-abdominal T1-weighted MRI were performed in sixteen (5 males and 11 females) youth diagnosed with PWS, and seventeen (10 males and 7 females) youth who did not have PWS (controls)...
April 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28282590/correlation-between-transversal-and-orthogonal-maximal-diameters-of-abdominal-aortic-aneurysms-and-alternative-rupture-risk-predictors
#17
Kamil Novak, Stanislav Polzer, Tomas Krivka, Robert Vlachovsky, Robert Staffa, Lubos Kubicek, Lukas Lambert, Jiri Bursa
PURPOSE: There is no standard for measuring maximal diameter (Dmax) of abdominal aortic aneurysm (AAA) from computer tomography (CT) images although differences between Dmax evaluated from transversal (axialDmax) or orthogonal (orthoDmax) planes can be large especially for angulated AAAs. Therefore we investigated their correlations with alternative rupture risk indicators as peak wall stress (PWS) and peak wall rupture risk (PWRR) to decide which Dmax is more relevant in AAA rupture risk assessment...
March 6, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28266087/rigidity-in-routines-and-the-development-of-resistance-to-change-in-individuals-with-prader-willi-syndrome
#18
E L Haig, K A Woodcock
BACKGROUND: Individuals with Prader-Willi syndrome (PWS) commonly show debilitating resistance to change, which has been linked to cognitive deficits in task switching. Anecdotal reports suggest that exposure to flexibility in routines during development may be beneficial for limiting subsequent resistance to change in people with PWS, which is consistent with a beneficial role of such exposure on the development of task switching, highlighted in typical children. Here, we aim to investigate the development of resistance to change in individuals with PWS and hypothesise that exposure to increased rigidity in routines will be associated with increased subsequent resistance to change...
March 6, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28264487/investigating-autism-related-symptoms-in-children-with-prader-willi-syndrome-a-case-study
#19
Jeffrey A Bennett, Sandra Hodgetts, Michelle L Mackenzie, Andrea M Haqq, Lonnie Zwaigenbaum
Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis...
February 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28253507/hormonal-and-metabolic-responses-to-a-single-bout-of-resistance-exercise-in-prader-willi-syndrome%C3%A2
#20
Daniela A Rubin, Susan J Clark, Andrea M Haqq, Diobel M Castner, Jason Ng, Daniel A Judelson
BACKGROUND: Prader-Willi syndrome (PWS) is characterized by excessive adiposity. Excess adiposity negatively affects hormonal and metabolic responses to aerobic exercise. This study determined whether PWS and/or adiposity affected hormonal and metabolic responses to resistance exercise. METHODS: Eleven children with PWS (11.4 ± 3.1 years, 43.9 ± 7.5% body fat), 12 lean children (9.3 ± 1.4 years, 18.3 ± 4.9% body fat), and 13 obese children (9.6 ± 1.3 years, 40...
2017: Hormone Research in Pædiatrics
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