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https://www.readbyqxmd.com/read/29141973/energy-metabolism-profile-in-individuals-with-prader-willi-syndrome-and-implications-for-clinical-management-a-systematic-review
#1
REVIEW
Maha Alsaif, Sarah A Elliot, Michelle L MacKenzie, Carla M Prado, Catherine J Field, Andrea M Haqq
Prader-Willi syndrome (PWS) is a rare genetic disorder associated with excessive weight gain. Hyperphagia associated with PWS may result in higher energy intake, but alterations in energy expenditure may also contribute to energy imbalance. The purpose of this critical literature review is to determine the presence of alterations in energy expenditure in individuals with PWS. Ten studies that measured total energy expenditure (TEE), resting energy expenditure (REE), sleep energy expenditure (SEE), activity energy expenditure (AEE), and diet induced thermogenesis (DIT) were included in this review...
November 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/29141786/intraluminal-thrombus-is-associated-with-early-rupture-of-abdominal-aortic-aneurysm
#2
Stephen J Haller, Jeffrey D Crawford, Katherine M Courchaine, Colin J Bohannan, Gregory J Landry, Gregory L Moneta, Amir F Azarbal, Sandra Rugonyi
BACKGROUND: The implications of intraluminal thrombus (ILT) in abdominal aortic aneurysm (AAA) are currently unclear. Previous studies have demonstrated that ILT provides a biomechanical advantage by decreasing wall stress, whereas other studies have associated ILT with aortic wall weakening. It is further unclear why some aneurysms rupture at much smaller diameters than others. In this study, we sought to explore the association between ILT and risk of AAA rupture, particularly in small aneurysms...
November 12, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29141064/port-wine-stains-a-focused-review-on-their-management
#3
Katelyn Mariko Updyke, Amor Khachemoune
<p>Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically appears as a deep red to purple patch on the skin. Typically, PWS progressively darken and may become hypertrophic or nodular without treatment. There are several treatment options available for PWS from topical antiangiogenic agents to laser therapies. Vascular-specific lasers are the gold standard in treating PWS and classically pulsed dye lasers are usually the treatment of choice...
November 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29141045/csf-in-the-ventricles-of-the-brain-behaves-as-a-relay-medium-for-arteriovenous-pulse-wave-phase-coupling
#4
William E Butler, Pankaj K Agarwalla, Patrick Codd
The ventricles of the brain remain perhaps the largest anatomic structure in the human body without established primary purpose, even though their existence has been known at least since described by Aristotle. We hypothesize that the ventricles help match a stroke volume of arterial blood that arrives into the rigid cranium with an equivalent volume of ejected venous blood by spatially configuring cerebrospinal fluid (CSF) to act as a low viscosity relay medium for arteriovenous pulse wave (PW) phase coupling...
2017: PloS One
https://www.readbyqxmd.com/read/29140981/wavelet-brain-angiography-suggests-arteriovenous-pulse-wave-phase-locking
#5
William E Butler
When a stroke volume of arterial blood arrives to the brain, the total blood volume in the bony cranium must remain constant as the proportions of arterial and venous blood vary, and by the end of the cardiac cycle an equivalent volume of venous blood must have been ejected. I hypothesize the brain to support this process by an extraluminally mediated exchange of information between its arterial and venous circulations. To test this I introduce wavelet angiography methods to resolve single moving vascular pulse waves (PWs) in the brain while simultaneously measuring brain pulse motion...
2017: PloS One
https://www.readbyqxmd.com/read/29104802/a-rasch-analysis-between-schizophrenic-patients-and-the-general-population
#6
Frederic Denis, Pablo Bizien, Stéphanie Tubert-Jeannin, Mohamad Hamad, Benoit Trojak, Nathalie Rude, Jean-Benoit Hardouin
Background: The aim of this study was to test the General Oral Health Assessment Index Questionnaire (GOHAI) items for differential item functioning (DIF) according to demographic characteristics (gender, age) and mental health status (schizophrenic disorders versus general population) using Rasch analysis. Methods: This is a cross-sectional study using aggregated baseline data from a validation study of the GOHAI in the French general population (GP) and similar validation study in persons with schizophrenia (PWS)...
2017: Translational Neuroscience
https://www.readbyqxmd.com/read/29102298/orchidopexy-in-children-with-prader-willi-syndrome-results-of-a-long-term-follow-up-study
#7
Maurizio Pacilli, Yves Heloury, Mike O'Brien, Tess Lionti, Margaret Rowell, John Hutson
INTRODUCTION: Prader-Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86-100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children. STUDY DESIGN: A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed...
October 16, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29101669/25oh-vitamin-d-levels-in-pediatric-patients-affected-by-prader-willi-syndrome
#8
D Fintini, S Pedicelli, S Bocchini, C Bizzarri, G Grugni, M Cappa, A Crinò
PURPOSE: Obesity, insulin resistance, and puberty seem to influence and been inversely associated with 25-hydroxy vitamin D (25OHD) levels. To our knowledge, a study on 25OHD in children and adolescents with Prader-Willi syndrome (PWS), a genetic form of obesity, is not yet available. OBJECTIVE: To analyze the 25OHD values in pediatric PWS subjects in comparison with a control group (CNT), highlighting the possible correlations with IR, BMD, body composition, pubertal stage, and GH therapy (GHT)...
November 3, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29100597/determinants-of-gait-stability-while-walking-on-a-treadmill-a-machine-learning-approach
#9
Fabienne Reynard, Philippe Terrier
Dynamic balance in human locomotion can be assessed through the local dynamic stability (LDS) method. Whereas gait LDS has been used successfully in many settings and applications, little is known about its sensitivity to individual characteristics of healthy adults. Therefore, we reanalyzed a large dataset of accelerometric data measured for 100 healthy adults from 20 to 70 years of age performing 10 min treadmill walking. We sought to assess the extent to which the variations of age, body mass and height, sex, and preferred walking speed (PWS) could influence gait LDS...
October 25, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/29079350/clinical-study-on-clinical-operation-and-post-treatment-reactions-of-hmme-pdt-in-treatment-of-pws
#10
REVIEW
Yunjie Zhang, Xianbiao Zou, Hongxia Chen, Yuguang Yang, Hui Lin, Xiaojuan Guo
OBJECTIVE: To analyze the clinical efficacy of hematoporphyrin monomethyl ether photodynamic therapy (HMME-PDT) in treating port-wine stains (PWS), and its clinical operation skills and operation essentials. METHOD: A total of 16 cases of PWS with negative HMME skin test results were included in this study. Their treated areas were exposed and injected with 5mg/kg HMME, and then irradiated under 532nm LED green light, with the irradiation power density between 90-100mW/cm(2)...
October 24, 2017: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/29066024/dna-sequencing-and-copy-number-variation-analysis-of-mchr2-in-a-cohort-of-prader-willi-like-pwl-patients
#11
Ellen Geets, Evi Aerts, An Verrijken, Kim Van Hoorenbeeck, Stijn Verhulst, Luc Van Gaal, Wim Van Hul
BACKGROUND: Prader Willi Syndrome (PWS) is a syndromic form of obesity caused by a chromosomal aberration on chromosome 15q11.2-q13. Patients with a comparable phenotype to PWS not carrying the 15q11.2-q13 defect are classified as Prader Willi like (PWL). In literature, PWL patients do frequently harbor deletions at 6q16, which led to the identification of the single-minded 1 (SIM1) gene as a possible cause for the presence of obesity in these patients. However, our previous work in a PWL cohort showed a rather limited involvement of SIM1 in the obesity phenotype...
October 20, 2017: Obesity Research & Clinical Practice
https://www.readbyqxmd.com/read/29064318/comparing-the-performance-of-people-who-stutter-and-people-who-do-not-stutter-on-the-test-of-everyday-attention
#12
Silviya Doneva, Steve Davis, Penny Cavenagh
INTRODUCTION: Compelling findings into the relationship between stuttering and attentional ability have started to emerge, with some child and adult studies indicating poorer attentional ability among people who stutter (PWS). The purpose of the present research was to provide a more complete picture of the attentional abilities of PWS, as well as to gather insights into their individual attentional performance. METHOD: We compared the attentional ability of PWS to that of people who do not stutter (PWNS) by using the Test of Everyday Attention (TEA)...
October 24, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/29055458/the-walking-speed-reserve-in-low-disabled-people-with-multiple-sclerosis-does-it-provide-greater-insight-in-detecting-mobility-deficits-and-risk-of-falling-than-preferred-and-fast-walking-speeds
#13
Alon Kalron, Shay Menascu, Mark Dolev, Uri Givon
The extent of an increase from a preferred walking speed (PWS) to a fast walking speed (FWS) is defined as the walking speed reserve (WSR). The WSR is unique as it reflects an individual's ability to increase their walking speed on demand. The primary objective of this study was to examine whether the WSR was more advantageous than the PWS and FWS in terms of reflecting mobility deficits and risk of falling associated with multiple sclerosis (MS). The patient group included 235 people with MS (PwMS) (139 women) with a mean age of 43...
October 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29050188/-sturge-weber-syndrome-in-port-wine-stain-patients-a-retrospective-study-on-the-clinical-features-and-screening-strategy
#14
Y Wu, R J Yu, X X Lin, W Y Guo
Objective: To investigate the clinical characteristics of Sturge-Weber syndrome (SWS) in the patients with Port-wine stain (PWS). Methods: A total of 279 PWS patients, 164 males, 115 females with a median age of first visit 17.00 (4.75, 56.00) months. Most of the PWS patients were referred to the Ophthalmology Department for screening eye problems when the cutaneous angiomas involved the ophthalmic division of the trigeminal nerve distribution. The intraocular pressure (IOP), cup to disk ratio (C/D), corneal condition and other essential measurements were examined to screen glaucoma or choroidal hemangioma...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29046239/increased-peak-wall-stress-but-not-maximum-diameter-is-associated-with-symptomatic-abdominal-aortic-aneurysm
#15
Begoña Soto, Luis Vila, Jaime F Dilmé, Jose R Escudero, Sergi Bellmunt, Mercedes Camacho
OBJECTIVE: Maximum diameter (MD) is the established rupture predictor for abdominal aortic aneurysm (AAA). However, biomechanical markers from finite element analysis (FEA) could be more accurate predictors for these patients. In this study, the association between peak wall stress (PWS) and MD with symptoms of AAA was evaluated. METHODS: Patients diagnosed with infrarenal non-ruptured AAA at the centre between 2009 and 2015 were included. Clinical data, morphological variables (including MD), and the biomechanical variables PWS and diameter normalised PWS (dnPWS) in symptomatic (sAAA) and asymptomatic AAA patients (aAAA) were included...
October 15, 2017: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#16
Emily A Abel, Bridgette L Tonnsen
BACKGROUND: Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29022650/sleep-related-breathing-disorders-in-patients-with-prader-willi-syndrome-depending-on-the-period-of-growth-hormone-treatment
#17
Agnieszka Lecka-Ambroziak, Małgorzata Jędrzejczak, Marta Wysocka-Mincewicz, Mieczysław Szalecki
INTRODUCTION: Sleep-related breathing disorders (SRBD) are commonly present in patients with Prader-Willi syndrome (PWS). Recombinant human growth hormone (rhGH) treatment is reported to improve breathing function in PWS, but the findings are not explicit. MATERIAL AND METHODS: Screening polysomnography- polygraphy (PSG), assessing nasal respiratory flow, respiratory effort, and blood oxygen saturation, was used. Group 1 - before rhGH therapy (n = 11, mean age 3...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28994643/shorter-treatment-intervals-of-east-asians-with-port-wine-stain-with-pulsed-dye-laser-are-safe-and-effective-a-prospective-side-by-side-comparison
#18
Wenxin Yu, Jiafang Zhu, Shih-Jen Changc, Hui Chen, Yunbo Jin, Xi Yang, Tianyou Wang, Lei Chang, Yijie Chen, Gang Ma, Xiaoxi Lin
OBJECTIVE: To compare the safety and efficacy of pulsed dye laser (PDL) at different intervals for the treatment of East Asians with Port-Wine Stain (PWS). BACKGROUND: The population of East Asians around the world is about 1.6 billion, and they are considered to have more melanin in their skin compared with Caucasians. Nevertheless, no studies about the optimal treatment intervals for East Asians with PWS have been carried out. METHODS: We prospectively investigated 39 East Asian patients with untreated PWS...
October 10, 2017: Photomedicine and Laser Surgery
https://www.readbyqxmd.com/read/28984907/prader-willi-syndrome-genetic-subtypes-and-clinical-neuropsychiatric-diagnoses-in-residential-care-adults
#19
Ann M Manzardo, Nicolette Weisensel, Sheryl Ayala, Waheeda Hossain, Merlin G Butler
The historical diagnosis of Prader-Willi syndrome (PWS), a complex genetic disorder, in adults by clinical presentation rather than genetic testing has limited genetic subtype-specific psychometric investigations and treatment. Genetic testing and clinical psychiatric evaluation using DSM-IV-TR criteria were undertaken on 72 adult residents (34M; 38F) from the Prader-Willi Homes of Oconomowoc (PWHO), a specialty PWS group home system. Methylation specific-multiplex ligation probe amplification and high-resolution microarrays were analyzed for methylation status, 15q11-q13 deletions and maternal uniparental disomy 15 (mUPD15)...
October 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28973544/loss-of-the-imprinted-non-coding-snord116-gene-cluster-in-the-interval-deleted-in-the-prader-willi-syndrome-results-in-murine-neuronal-and-endocrine-pancreatic-developmental-phenotypes
#20
Lisa Cole Burnett, Gabriela Hubner, Charles LeDuc, Michael V Morabito, Jayne F Martin Carli, Rudolph L Leibel
Global neurodevelopmental delay is a prominent characteristic of individuals with Prader-Willi syndrome (PWS). The neuromolecular bases for these delays are unknown. We identified neuroanatomical changes in the brains of mice deficient for a gene in the minimal critical deletion region for PWS (Snord116p-/m+). In Snord116p-/m+ mice, reduced primary forebrain neuron cell body size is apparent in embryonic day 15.5 fetuses, and persists until postnatal day 30 in cerebellar purkinje neurons. Snord116 is a snoRNA gene cluster of unknown function that can localize to the nucleolus...
September 6, 2017: Human Molecular Genetics
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