Read by QxMD icon Read


Chong Kun Cheon
The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and several snoRNAs, but it is not yet well known which specific genes in this region are associated with this syndrome...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Frederic Denis, Isabelle Millot, Nicolas Abello, Maud Carpentier, Audrey Peteuil, Agnès Soudry-Faure
BACKGROUND: Schizophrenia is a severe mental disorder that affects 1 % of the world's population, including 600,000 people in France. Persons with schizophrenia (PWS) have excess mortality (their life expectancy is reduced by 20 %) and excess morbidity. In addition, such persons may have a large number of missing or decayed teeth. Dental caries and periodontal measurement indexes are often twice as high as the level found in the general population. Poor oral health can also affect quality of life and oral health is inseparable from general health...
2016: International Journal of Mental Health Systems
Hsuan-Lun Lu, Tung-Wu Lu, Hsiu-Chen Lin, Hong-Jung Hsieh, Wing P Chan
Treadmills are often used in clinical settings to improve walking balance control in patients with gait impairments. However, knowledge of the effects of belt speed on balance control remains incomplete. The current study determined such effects in terms of inclination angles (IA) and the rate of change (RCIA) of the center of mass (COM) motion relative to the center of pressure (COP) in twelve healthy adults at five belt speeds, including the subjects' preferred walking speed (PWS), as measured using a motion capture system and an instrumented treadmill...
September 29, 2016: Gait & Posture
Shelley B Brundage, James M Brinton, Adrienne B Hancock
PURPOSE: Virtual reality environments (VREs) allow for immersion in speaking environments that mimic real-life interactions while maintaining researcher control. VREs have been used successfully to engender arousal in other disorders. The purpose of this study was to investigate the utility of virtual reality environments to examine physiological reactivity and subjective ratings of distress in persons who stutter (PWS). METHOD: Subjective and objective measures of arousal were collected from 10PWS during four-minute speeches to a virtual audience and to a virtual empty room...
October 5, 2016: Journal of Fluency Disorders
M R Giuca, R Inglese, S Caruso, R Gatto, G Marzo, M Pasini
OBJECTIVE: To investigate craniofacial characteristics in pediatric patients with Prader-Willi syndrome (PWS). SETTING AND SAMPLE POPULATION: A retrospective sample of 20 consecutive patients with PWS who had lateral and antero-posterior (AP) cephalograms (14 males and six females; average age 10.2 ± 3 years) was compared to 20 controls matched for age and sex (14 males and six females; average age 10.5 ± 3.7 years). MATERIALS AND METHODS: Cephalometric skeletal measurements were performed twice at a 1-week interval by one calibrated operator, and random error was calculated using Dahlberg's formula...
November 2016: Orthodontics & Craniofacial Research
Luay M Almassalha, Greta M Bauer, John E Chandler, Scott Gladstein, Lusik Cherkezyan, Yolanda Stypula-Cyrus, Samuel Weinberg, Di Zhang, Peder Thusgaard Ruhoff, Hemant K Roy, Hariharan Subramanian, Navdeep S Chandel, Igal Szleifer, Vadim Backman
The organization of chromatin is a regulator of molecular processes including transcription, replication, and DNA repair. The structures within chromatin that regulate these processes span from the nucleosomal (10-nm) to the chromosomal (>200-nm) levels, with little known about the dynamics of chromatin structure between these scales due to a lack of quantitative imaging technique in live cells. Previous work using partial-wave spectroscopic (PWS) microscopy, a quantitative imaging technique with sensitivity to macromolecular organization between 20 and 200 nm, has shown that transformation of chromatin at these length scales is a fundamental event during carcinogenesis...
October 4, 2016: Proceedings of the National Academy of Sciences of the United States of America
Yllka Kodra, Loreta A Kondili, Alessia Ferraroni, Maria Antonietta Serra, Flavia Caretto, Maria Antonietta Ricci, Domenica Taruscio
INTRODUCTION: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by severe hypotonia during the neonatal period and the first two years of life, the onset of hyperphagia with a risk of obesity during infancy and adulthood, learning difficulties and behavioral or severe psychiatric problems. This complex disease has severe consequences and difficult management issues also for patients' families. Parents of children with PWS need appropriate psychoeducational intervention in order to better manage their children with PWS...
July 2016: Annali Dell'Istituto Superiore di Sanità
R J Kuppens, N E Bakker, E P C Siemensma, S H Donze, T Stijnen, A C S Hokken-Koelega
CONTEXT: Patients with Prader-Willi syndrome (PWS) have an increased fat mass and decreased lean body mass. GH-treated young adults with PWS who have attained adult height benefit from continuation of growth hormone (GH) treatment, as GH maintained their improved body composition, whereas fat mass increased during the placebo period. Adults with PWS are predisposed to T2DM and CVD. Whether GH affects metabolic health profile of this patient group is unknown. OBJECTIVE: To investigate the effects of GH versus placebo on metabolic health, in young adults with PWS who were GH-treated for many years during childhood and had attained adult height (AH)...
September 30, 2016: Clinical Endocrinology
Marta Bueno, Susanna Esteba-Castillo, Ramon Novell, Olga Giménez-Palop, Ramon Coronas, Elisabeth Gabau, Raquel Corripio, Neus Baena, Marina Viñas-Jornet, Míriam Guitart, David Torrents-Rodas, Joan Deus, Jesús Pujol, Mercedes Rigla, Assumpta Caixàs
CONTEXT: Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis. OBJECTIVES: To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS. DESIGN: Experimental study. SETTING: University hospital. SUBJECTS: 90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese controls; and 30 age-sex-matched lean controls...
2016: PloS One
Lauren Schwartz, Anthony Holland, Elisabeth Dykens, Theresa Strong, Elizabeth Roof, Jessica Bohonowych
: This paper reports on the 'Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop' that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a high prevalence of maladaptive behaviours, and neuropsychiatric illness. Prader Willi syndrome results from the absence of paternally derived alleles located at the imprinted chromosomal locus, 15q11-13. The goal of the workshop was to highlight the state of the science of the mental health of people with this rare neurodevelopmental disorder...
September 29, 2016: Orphanet Journal of Rare Diseases
Pooja Palkar, Anahid Kabasakalian, Bonnie Taylor, Ellen Doernberg, Casara Jean Ferretti, Genoveva Uzunova, Eric Hollander
We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.
August 2016: Intractable & Rare Diseases Research
Glenda Lassi, Silvia Maggi, Edoardo Balzani, Ilaria Cosentini, Celina Garcia-Garcia, Valter Tucci
Abnormal feeding behavior is one of the main symptoms of Prader-Willi syndrome (PWS). By studying a PWS mouse mutant line, which carries a paternally inherited deletion of the small nucleolar RNA 116 (Snord116), we observed significant changes in working-for-food behavioral responses at various timescales. In particular, we report that PWS mutant mice show a significant delay compared to wild-type littermate controls in responding to both hour-scale and seconds-to-minutes- scale time intervals. This timing shift in mutant mice is associated with better performance in the working-for-food task and results in better decision making in these mutant mice...
September 26, 2016: Genetics
Canan Cengiz, Yusuf Celik, Neset Hikmet
Purpose The purpose of this paper is to evaluate the utilisation of patient wristbands (PWs) and patient identification (PI) process in a training hospital in Ankara, Turkey. Design/methodology/approach This descriptive and cross-sectional study was conducted in a training hospital with 640 beds, accreditied by Joint Commission International. The views of 348 patients and 419 hospital personnel on the implementation of patient wristbands and identification process were evaluated. Findings The results indicated that lack of information among patients about the importance of PWs and the misknowledge among staff participants on when, where, and by whom PWs should be put on and verified were the weakest points in this hospital...
October 10, 2016: International Journal of Health Care Quality Assurance
Muhsin A Al-Dhalimi, Murtadha H Al-Janabi
BACKGROUND: Lasers have been the treatment of choice for Port-wine stain (PWS). However, only one type of laser is not a panacea for all PWS malformations. This is may be due to the great heterogeneity of phenotypic presentation of this congenital anomaly as color, depth, and the site of the lesion. For the treatment of PWS, flash lamp-pumped pulsed dye laser, carbon dioxide, argon, krypton, copper bromide, frequency-doubled neodymium:yttrium-aluminum-garnet (Nd:YAG), and also intense pulsed light sources can be used...
September 26, 2016: Lasers in Surgery and Medicine
Muriel Coupaye, Maithé Tauber, Laurence Cuisset, Virginie Laurier, Eric Bieth, Jean-Marc Lacorte, Jean-Michel Oppert, Karine Clément, Christine Poitou
CONTEXT: Adults with Prader-Willi Syndrome (PWS) have an increased proportion of subcutaneous fat mass compared to BMI-matched controls, but whether the genotype influences body composition and metabolic profile remains controversial. OBJECTIVE: To assess body composition and metabolic features in adults with PWS, according to genetic subtype. In addition, the effect of previous growth hormone (GH) treatment was assessed. Main Outcomes and Measures: Body composition (DXA) and metabolic parameters were compared in PWS adults (mean age: 25...
September 23, 2016: Journal of Clinical Endocrinology and Metabolism
Bianca Sakamoto Ribeiro Paiva, Mayara Goulart de Camargos, Marcelo Marcos Piva Demarzo, Gonzalo Hervás, Carmelo Vázquez, Carlos Eduardo Paiva
The Pemberton Happiness Index (PHI) is a recently developed integrative measure of well-being that includes components of hedonic, eudaimonic, social, and experienced well-being. The PHI has been validated in several languages, but not in Portuguese. Our aim was to cross-culturally adapt the Universal Portuguese version of the PHI and to assess its psychometric properties in a sample of the Brazilian population using online surveys.An expert committee evaluated 2 versions of the PHI previously translated into Portuguese by the original authors using a standardized form for assessment of semantic/idiomatic, cultural, and conceptual equivalence...
September 2016: Medicine (Baltimore)
Mohammad Hossein Kaveh, Jeyran Ostovarfar, Sareh Keshavarzi, Leila Ghahremani
The individual's perception of health, when health is understood to include many dimensions of life, is considered the basis for any improvement in health status. Therefore, the present study aimed to assess the reliability and validity of the Persian version of the Perceived Wellness Scale (PWS) by applying it to employees of the Shiraz University of Medical Sciences. This cross-sectional study was conducted with 180 staff members of the university selected by convenience sampling. The study instrument was a Persian version of the PWS prepared through a translation and back-translation process...
July 2016: Malaysian Journal of Medical Sciences: MJMS
Maaz Hassan, Merlin G Butler
We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region. With high resolution chromosomal microarray and methylation - specific MLPA analysis, we updated the genetic findings on our patient and found a 209,819bp deletion including the SNURF-SNRPN gene complex which includes the imprinting center and the SNORD116 region...
September 19, 2016: European Journal of Medical Genetics
Michel C Boufadel, Xiaolong Geng, Jeff Short
Oil from the Exxon Valdez laden with polycyclic aromatic hydrocarbons (PAH) has persisted on some beaches in Prince William Sound, Alaska, >20years after these beaches became contaminated. The degradation rate of the total PAH (TPAH) is estimated at 1% per year. Low oxygen concentrations were found to be the major factor causing oil persistence, and bioremediation through the injection of hydrogen peroxide and nutrients deep into four beaches in PWS were conducted in the summers of 2011 and 2012. It was found that due to the treatment, the TPAH biodegradation rate was between 13% and 70% during summer 2011 and summer 2012...
September 9, 2016: Marine Pollution Bulletin
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"