keyword
MENU ▼
Read by QxMD icon Read
search

Pws

keyword
https://www.readbyqxmd.com/read/28331554/altered-functional-resting-state-hypothalamic-connectivity-and-abnormal-pituitary-morphology-in-children-with-prader-willi-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
March 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28228131/whole-genome-sequencing-of-one-complex-pedigree-illustrates-challenges-with-genomic-medicine
#13
Han Fang, Yiyang Wu, Hui Yang, Margaret Yoon, Laura T Jiménez-Barrón, David Mittelman, Reid Robison, Kai Wang, Gholson J Lyon
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants. METHODS: We illustrate an integrative analysis of WGS and HPO using an extended pedigree, which involves Prader-Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms...
February 23, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28220384/human-exposure-to-perfluoroalkyl-substances-near-a-fluorochemical-industrial-park-in-china
#14
Jia Bao, Li Liu, Xin Wang, Yi-He Jin, Guang-Hui Dong
Severe perfluoroalkyl substance (PFAS) contaminations have been observed in both surface water and groundwater in the vicinity of Fuxin, China, over the past years, attributing to the fast-growing fluorochemical industries locally. However, little is known about the overall daily intake of PFAS contaminations by Fuxin residents recently. In the present study, ten target PFAS analytes in the blood serum samples collected from 100 non-occupationally exposed healthy residents in Fuxin, with an average age of 47...
February 20, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28216012/the-association-between-treatment-reactions-and-treatment-efficiency-of-hmme-photodynamic-therapy-on-port-wine-stains-a-prospective-double-blind-randomized-controlled-trial
#15
Yan Tang, Hongfu Xie, Ji Li, Dan Jian
BACKGROUND: Plenty of researches focused on treatment efficiency and/or treatment reactions of photodynamic therapy (PDT) on port-wine stain (PWS). But few studies reported the association between them. Hence, here we investigated the association between the treatment efficiency and treatment reactions after Hemoporfin mediated photodynamic therapy (HMME-PDT) on PWS through a prospective study. METHODS: Patients (n=50) with PWS were randomly assigned to the HMME group or the placebo group...
February 12, 2017: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#16
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28164030/the-dilemma-of-diagnostic-testing-for-prader-willi-syndrome
#17
REVIEW
Arabella Smith, Dorothy Hung
Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests...
January 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28160203/nd-yag-laser-induced-morphology-change-and-photothermal-conversion-of-gold-nanorods-with-potential-application-in-the-treatment-of-port-wine-stain
#18
Linzhuang Xing, Bin Chen, Dong Li, Jun Ma, Wenjuan Wu, Guoxiang Wang
Based on the principle of selective photothermolysis, 1064 nm Nd:YAG laser has great potential for the treatment of deeper and larger PWS. However, the clinical effectiveness is limited because of the weak absorption of blood to Nd:YAG laser. The aim of this study is to obtain the optimal irradiation conditions to effectively destroy vascular lesions with the assistance of PEG-modified gold NRs to enhance blood absorption of Nd:YAG laser. In our study, PEG-modified gold NRs were prepared by the seeded growth method...
April 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28148934/genetic-disorders-steps-towards-epigenetic-therapy-for-pws
#19
Sarah Crunkhorn
No abstract text is available yet for this article.
February 2, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/28144917/impact-of-adalimumab-on-work-productivity-and-activity-impairment-in-japanese-patients-with-rheumatoid-arthritis-large-scale-prospective-single-cohort-anouveau-study
#20
Tsutomu Takeuchi, Ryo Nakajima, Shuichi Komatsu, Kiyotaka Yamazaki, Tomohiro Nakamura, Naoki Agata, Ataru Igarashi, Toshiro Tango, Yoshiya Tanaka
INTRODUCTION: The Adalimumab Non-interventional Trial for Up-verified Effects and Utility (ANOUVEAU) was a large-scale, multicenter, prospective, observational, single-cohort study that evaluated the effects of adalimumab (ADA) on rheumatoid arthritis (RA)-related work productivity and activity impairment (RA-related WPAI) and disease activity in routine rheumatology care in Japan. METHODS: Patients with RA were categorized as paid workers (PWs, ≥35 h/week), part-time workers (PTWs, <35 h/week), or homemakers (HMs, unemployed) and were administered the WPAI for RA (WPAI/RA) questionnaire...
January 31, 2017: Advances in Therapy
keyword
keyword
36555
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"