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https://www.readbyqxmd.com/read/29776967/multicentre-study-of-maternal-and-neonatal-outcomes-in-individuals-with-prader-willi-syndrome
#1
Preeti Singh, Ranim Mahmoud, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Roy Tamura, Elisabeth Dykens, Merlin G Butler, Dan J Driscoll, Virginia Kimonis
INTRODUCTION: Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited. OBJECTIVE: The aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes...
May 18, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29771950/biophotonic-detection-of-high-order-chromatin-alterations-in-field-carcinogenesis-predicts-risk-of-future-hepatocellular-carcinoma-a-pilot-study
#2
Richard Kalman, Andrew Stawarz, David Nunes, Di Zhang, Mart A Dela Cruz, Arpan Mohanty, Hariharan Subramanian, Vadim Backman, Hemant K Roy
PURPOSE: Hepatocellular carcinoma (HCC) results from chronic inflammation/cirrhosis. Unfortunately, despite use of radiological/serological screening techniques, HCC ranks as a leading cause of cancer deaths. Our group has used alterations in high order chromatin as a marker for field carcinogenesis and hence risk for a variety of cancers (including colon, lung, prostate, ovarian, esophageal). In this study we wanted to address whether these chromatin alterations occur in HCC and if it could be used for risk stratification...
2018: PloS One
https://www.readbyqxmd.com/read/29757479/image-cytometry-dna-ploidy-analysis-correlation-between-two-semi-automated-methods
#3
Janaina Salomon Ghizoni, Marcelo Sperandio, Claire Lock, Edward W Odell
BACKGROUND AND OBJECTIVES: Quantitation of cell DNA content, DNA ploidy, has been established as a research and prognostic technique for decades. A variety of instruments have been used despite only a few commercially available systems having established quality assurance and published outcome data. The aim of this study was to compare two automated systems. METHODS: Nuclear monolayers were obtained from 112 oral biopsies by enzyme digestion and Feulgen staining...
May 14, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29750570/orthognathic-correction-in-prader-willi-syndrome-occlusion-and-sleep-restored
#4
Keliang Kevin Xiao, Shikhar Tomur, Robert Beckerman, Kevin Cassidy, Michael Lypka
Children with Prader-Willi Syndrome (PWS) may present with a malocclusion and have a high propensity of developing obstructive sleep apnea (OSA). Obstructive sleep apnea is associated with short- and long-term adverse effects that negatively impact children with PWS. A case of a 15-year-old male with PWS, OSA, and a debilitating malocclusion is presented who underwent a combination of Le Fort 1 osteotomy, genioplasty, and tongue reduction to successfully treat his OSA and malocclusion. In select cases, orthognathic correction and other surgical therapies should be considered in patients with PWS...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29747034/identification-of-neural-structures-involved-in-stuttering-using-vibrotactile-feedback
#5
Oliver Cheadle, Clarissa Sorger, Peter Howell
Feedback delivered over auditory and vibratory afferent pathways has different effects on the fluency of people who stutter (PWS). These features were exploited to investigate the neural structures involved in stuttering. The speech signal vibrated locations on the body (vibrotactile feedback, VTF). Eleven PWS read passages under VTF and control (no-VTF) conditions. All combinations of vibration amplitude, synchronous or delayed VTF and vibrator position (hand, sternum or forehead) were presented. Control conditions were performed at the beginning, middle and end of test sessions...
May 7, 2018: Brain and Language
https://www.readbyqxmd.com/read/29744754/less-is-more-similar-efficacy-in-three-sessions-and-seven-sessions-of-pulsed-dye-laser-treatment-in-infantile-port-wine-stain-patients
#6
Jiafang Zhu, Wenxin Yu, Tianyou Wang, Yijie Chen, Dongze Lyu, Lei Chang, Gang Ma, Xiaoxi Lin
Port-wine stains (PWS) affect 0.3 to 0.5% of newborns and pulsed dye laser (PDL) remains the treatment of choice. However, no reliable study regarding the benefits of more frequent has been conducted. We designed the present study to evaluate whether more frequent PDL treatments in infantile patients would achieve further lightening of erythema. We prospectively investigated 20 infants with PWS. Two adjacent sites were both treated for a 12-week duration and randomly allocated to be treated for seven sessions at 2-week intervals or three sessions at 6-week intervals...
May 10, 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29738816/can-red-light-5-aminolevulinic-photodynamic-therapy-cure-port-wine-stains-on-comb-animal-model
#7
Yongxian Lai, Haiyan Zhang, Minglei Wei, Jie Ji, Lei Shi, Peiru Wang, Bo Wang, Zheng Huang, Xiuli Wang
OBJECTIVE: To study the curative effect of red-light 5-Aminolevulinic photodynamic therapy(ALA-PDT) to port wine stains(PWS) on comb animal model. METHODS: 160 male cocks were randomly divided into 16 groups. The ALA only group was given ALA only topical or systemic application. Light only groups were only given 630 nm red light irradiation with different light density. ALA-PDT groups were given red light after the application of topical or systemic ALA. PDL group was given PDL irradiation...
May 5, 2018: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/29736324/repeatability-of-retinal-sensitivity-measurements-using-a-medmont-dark-adapted-chromatic-perimeter-in-healthy-and-age-related-macular-degeneration-cases
#8
Rose S Tan, Robyn H Guymer, Chi D Luu
Purpose: To determine the intrasession and intersession test-retest repeatability of retinal sensitivity measurements using a dark-adapted chromatic perimeter (DACP). Methods: For intrasession testing, retinal sensitivity within the central 24° for the 505-nm stimulus was measured after 20, 30, and 40 minutes of dark adaptation (DA) and for the 625-nm stimulus was measured after the first and second 505-nm tests. For intersession testing, retinal sensitivity for both stimuli was measured after 30 minutes of DA at baseline and 1 month...
May 2018: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/29730598/molecular-genetic-classification-in-prader-willi-syndrome-a-multisite-cohort-study
#9
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll
BACKGROUND: Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. METHODS: High-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age...
May 5, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29723653/a-persian-version-of-the-stuttering-severity-instrument-version-four-ssi-4-how-the-new-additions-to-ssi-4-complement-its-stuttering-severity-score
#10
Neda Tahmasebi, Bijan Shafie, Hamid Karimi, Masood Mazaheri
PURPOSE: The fourth version of the Stuttering Severity Instrument (SSI-4) has been available since 2009. It has some modifications and new features which make it more appropriate at least for clinical practice, although further documentation is needed. The objective of the current research was to translate SSI-4 into Persian language and to discuss its relative and absolute reliability as well as its criterion validity for Persian adults who stutter (PWS). We also aimed to study how the new subjective self-reports of the SSI-4 complement the stuttering severity score obtained from the SSI-3 or the SSI-4...
April 23, 2018: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29715428/kinetics-of-huperzine-a-dissociation-from-acetylcholinesterase-via-multiple-unbinding-pathways
#11
Jakub Rydzewski, Rafal Jakubowski, Wieslaw Nowak, Helmut Grubmüller
The dissociation of huperzine A (hupA) from Torpedo californica acetylcholinesterase (TcAChE) was investigated by 4-microsecond unbiased and biased all-atom molecular dynamics (MD) simulations in explicit solvent. We performed our study using memetic sampling (MS) for the determination of reaction pathways (RPs), metadynamics to calculate free energy, and maximum-likelihood estimation (MLE) to recover kinetic rates from unbiased MD simulations. Our simulations suggest that the dissociation of hupA occurs mainly via two RPs: a front-door along the axis of the active-site gorge (pwf) and through a new transient side-door (pws), i...
May 1, 2018: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/29696788/delayed-peak-response-of-cortisol-to-insulin-tolerance-test-in-patients-with-prader-willi-syndrome
#12
Yuji Oto, Keiko Matsubara, Tadayuki Ayabe, Masahisa Shiraishi, Nobuyuki Murakami, Hiroshi Ihara, Tomoyo Matsubara, Toshiro Nagai
Deaths among children with Prader-Willi syndrome (PWS) are often related to only mild or moderate upper respiratory tract infections, and many causes of death remain unexplained. Several reports have hypothesized that patients with PWS may experience latent central adrenal insufficiency. However, whether PWS subjects suffer from alteration of the hypothalamus-pituitary-adrenal (HPA) axis remains unclear. This study aimed to explore the HPA axis on PWS. We evaluated the HPA axis in 36 PWS patients (24 males, 12 females; age range, 7 months to 12 years; median age 2...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696774/functional-independence-of-taiwanese-children-with-prader-willi-syndrome
#13
Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Yin-Hsiu Chien, Ni-Chung Lee, Dau-Ming Niu, Mei-Chyn Chao, Fuu-Jen Tsai, Yen-Yin Chou, Chih-Kuang Chuang, Shuan-Pei Lin
Prader-Willi syndrome (PWS) is a genetic disorder with obesity, developmental delay, short stature, and behavioral abnormalities. The study aimed to assess the functional independence in children with PWS. The Functional Independence Measure for Children (WeeFIM) was used to evaluate 81 children with PWS (44 boys and 37 girls) with a median age of 11 years 1 month (range 2 years 8 months to 20 years 2 months) were recruited between January 2013 and December 2016. The mean total WeeFIM score was 103.8 (maximum 126)...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696471/comprehensive-meta-analysis-reveals-association-between-multiple-imprinting-disorders-and-conception-by-assisted-reproductive-technology
#14
REVIEW
Victoria K Cortessis, Moosa Azadian, James Buxbaum, Fatimata Sanogo, Ashley Y Song, Intira Sriprasert, Pengxiao C Wei, Jing Yu, Karine Chung, Kimberly D Siegmund
PURPOSE: To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin. METHODS: We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB)...
April 25, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29691382/snord116-dependent-diurnal-rhythm-of-dna-methylation-in-mouse-cortex
#15
Rochelle L Coulson, Dag H Yasui, Keith W Dunaway, Benjamin I Laufer, Annie Vogel Ciernia, Yihui Zhu, Charles E Mordaunt, Theresa S Totah, Janine M LaSalle
Rhythmic oscillations of physiological processes depend on integrating the circadian clock and diurnal environment. DNA methylation is epigenetically responsive to daily rhythms, as a subset of CpG dinucleotides in brain exhibit diurnal rhythmic methylation. Here, we show a major genetic effect on rhythmic methylation in a mouse Snord116 deletion model of the imprinted disorder Prader-Willi syndrome (PWS). More than 23,000 diurnally rhythmic CpGs are identified in wild-type cortex, with nearly all lost or phase-shifted in PWS...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29685165/gastro-oesophageal-reflux-an-important-causative-factor-of-severe-tooth-wear-in-prader-willi-syndrome
#16
Ronnaug Saeves, Finn Strøm, Leiv Sandvik, Hilde Nordgarden
BACKGROUND: Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, such as decreased salivary flow rates and extreme tooth wear, have also been described. Studies have shown a significant increase in reflux symptoms in individuals with obstuctive sleep apnoea syndrome and increased BMI, both of which are typical findings in PWS. Gastro-oesophageal reflux disease (GORD) has been identified in some individuals with PWS and is a significant intrinsic factor in dental tooth wear...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29681103/comparison-of-perinatal-factors-in-deletion-versus-uniparental-disomy-in-prader-willi-syndrome
#17
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia Kimonis
Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29673244/changes-in-body-composition-blood-lipid-profile-and-growth-factor-hormone-in-a-patient-with-prader-willi-syndrome-during-24-weeks-of-complex-exercise-a-single-case-study
#18
Hee Joung Joung, In Soo Lim
PURPOSE: Prader-Willi syndrome (PWS) is a genetic disorder characterized by excessive appetite with progressive obesity and growth hormone (GH) deficiency. Excessive eating causes progressive obesity with increased risk of morbidities and mortality. Although GH treatment has beneficial effects on patients with PWS, adverse events have occurred during GH treatment. Exercise potentially has a positive effect on obesity management. The purpose of this research was to examine the effects of 24-week complex exercise program on changes in body composition, blood lipid profiles, and growth factor hormone levels in a patient with PWS...
March 30, 2018: Journal of Exercise Nutrition & Biochemistry
https://www.readbyqxmd.com/read/29670516/the-effects-of-fluency-enhancing-conditions-on-sensorimotor-control-of-speech-in-typically-fluent-speakers-an-eeg-mu-rhythm-study
#19
Tiffani Kittilstved, Kevin J Reilly, Ashley W Harkrider, Devin Casenhiser, David Thornton, David E Jenson, Tricia Hedinger, Andrew L Bowers, Tim Saltuklaroglu
Objective : To determine whether changes in sensorimotor control resulting from speaking conditions that induce fluency in people who stutter (PWS) can be measured using electroencephalographic (EEG) mu rhythms in neurotypical speakers. Methods : Non-stuttering (NS) adults spoke in one control condition (solo speaking) and four experimental conditions (choral speech, delayed auditory feedback (DAF), prolonged speech and pseudostuttering). Independent component analysis (ICA) was used to identify sensorimotor μ components from EEG recordings...
2018: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29666169/impact-of-transitional-care-on-endocrine-and-anthropometric-parameters-in-prader-willi-syndrome
#20
Anne-Cécile Paepegaey, Muriel Coupaye, Asma Jaziri, Florence Menesguen, Béatrice Dubern, Michel Polak, Jean-Michel Oppert, Maithe Tauber, Graziella Pinto, Christine Poitou
CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity, and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n=31) or not (n=64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team...
April 17, 2018: Endocrine Connections
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