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https://www.readbyqxmd.com/read/29343559/a-genetic-locus-for-paranoia
#1
Bernard Crespi, Silven Read, Iiro Salminen, Peter Hurd
The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader-Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN, mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia...
January 2018: Biology Letters
https://www.readbyqxmd.com/read/29335890/effectiveness-of-sodium-glucose-cotransporter-2-inhibitor-as-an-add-on-drug-to-glp-1-receptor-agonists-for-glycemic-control-of-a-patient-with-prader-willi-syndrome-a-case-report
#2
Yukio Horikawa, Mayumi Enya, Makie Komagata, Ken-Ichi Hashimoto, Masayo Kagami, Maki Fukami, Jun Takeda
INTRODUCTION: Diabetes patients with Prader-Willi syndrome (PWS) are obese because of hyperphagia; weight control by dietary modification and medicine is required for glycemic control. There are several recent reports showing the effectiveness of GLP-1 receptor agonists (GLP-1RAs) for diabetes treatment in PWS. CASE REPORT: A 36-year-old Japanese male patient was diagnosed with PWS at 10 years of age. At age 16 years, he was diagnosed with diabetes and began to take several kinds of oral hypoglycemic agents...
January 15, 2018: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/29324255/aberrant-autistic-and-food-related-behaviors-in-adults-with-prader-willi-syndrome-the-comparison-between-young-adults-and-adults
#3
Hiroyuki Ogata, Hiroshi Ihara, Masao Gito, Masayuki Sayama, Nobuyuki Murakami, Tadayuki Ayabe, Yuji Oto, Toshiro Nagai, Kazutaka Shimoda
This study aims to explore the differences of age as well as genotype in regards to the severity of behavioral symptoms in Prader-Willi syndrome (PWS), with emphasis on the comparison between youngadults and adults.The Food Related Problem Questionnaire (FRPQ), the Aberrant Behavior Checklist Japanese Version (ABC-J), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 46 PWS patients, including 33 young adults (ages 18-28) and 13 adults(ages 30-45). To examine the differences between young adults and adults, Mann-Whitney U tests were conducted...
January 8, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29320575/azp-531-an-unacylated-ghrelin-analog-improves-food-related-behavior-in-patients-with-prader-willi-syndrome-a-randomized-placebo-controlled-trial
#4
Soraya Allas, Assumpta Caixàs, Christine Poitou, Muriel Coupaye, Denise Thuilleaux, Françoise Lorenzini, Gwenaëlle Diene, Antonino Crinò, Frédéric Illouz, Graziano Grugni, Diane Potvin, Sarah Bocchini, Thomas Delale, Thierry Abribat, Maithé Tauber
CONTEXT AND OBJECTIVE: Prader-Willi syndrome (PWS) is characterized by early-onset hyperphagia and increased circulating levels of the orexigenic Acylated Ghrelin (AG) hormone with a relative deficit of Unacylated Ghrelin (UAG). AZP-531, a first-in-class UAG analog, was shown to inhibit the orexigenic effect of AG in animals, to improve glycemic control and decrease body weight in humans. We aimed to investigate the safety and efficacy of AZP-531 in patients with PWS for whom no approved treatment for hyperphagia is currently available...
2018: PloS One
https://www.readbyqxmd.com/read/29318372/severe-obstructive-sleep-disorders-in-prader-willi-syndrome-patients-in-southern-italy
#5
Angelo Canora, Adriana Franzese, Enza Mozzillo, Valentina Fattorusso, Marialuisa Bocchino, Alessandro Sanduzzi
Sleep-related disordered breathing (SDB) is very common in paediatric patients affected by Prader-Willi Syndrome (PWS). However, data addressing SBD patterns and their management are lacking. The aim of the present study was to analyse SDB features in 14 PWS patients (age range, 8 months-17 years). Polygraphic registration (PG) during a 12-h nocturnal sleep was performed in all patients. Obstructive and central apnoea indices and oxygen saturation (SpO2) were recorded along with demographic and clinical data...
January 9, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29286004/areas-under-peripheral-pulse-waves-a-potential-marker-of-atherosclerotic-changes
#6
Mikko Peltokangas, Jarmo Verho, Ville M Mattila, Pekka Romsi, Antti Vehkaoja, Jukka Lekkala, Niku Oksala
OBJECTIVE: In this study, we propose a method for finding atherosclerotic changes based on the ratios of areas under peripheral arterial pulse wave (PW) contours and analyze its performance. APPROACH: The PW signals were recorded with force sensors and photoplethysmographic sensors from ankle, wrist, cubital fossa, index finger and second toe from 30 atherosclerotic patients and 52 control subjects. In addition, day-to-day repeatability of the method was studied with 10 test subjects examined on 3 different days...
December 29, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/29274686/fluid-structure-interaction-models-based-on-patient-specific-ivus-at-baseline-and-follow-up-for-prediction-of-coronary-plaque-progression-by-morphological-and-biomechanical-factors-a-preliminary-study
#7
Liang Wang, Dalin Tang, Akiko Maehara, Zheyang Wu, Chun Yang, David Muccigrosso, Jie Zheng, Richard Bach, Kristen L Billiar, Gary S Mintz
Plaque morphology and biomechanics are believed to be closely associated with plaque progression. In this paper, we test the hypothesis that integrating morphological and biomechanical risk factors would result in better predictive power for plaque progression prediction. A sample size of 374 intravascular ultrasound (IVUS) slices was obtained from 9 patients with IVUS follow-up data. 3D fluid-structure interaction models were constructed to obtain both structural stress/strain and fluid biomechanical conditions...
December 15, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/29273483/growth-hormone-receptor-ghr-gene-polymorphism-and-scoliosis-in-prader-willi-syndrome
#8
Merlin G Butler, Waheeda Hossain, Maaz Hassan, Ann M Manzardo
OBJECTIVE: A growth hormone receptor (GHR) gene polymorphism impacts sensitivity to endogenous and exogenous growth hormone (GH) to moderate growth and development. Increased sensitivity may accelerate spinal growth and contribute to scoliosis, particularly in GH-deficient and treated populations such as Prader-Willi syndrome (PWS). Therefore, we examined the relationship between GHR genotype and scoliosis (case and control) in PWS cohorts. DESIGN: We utilized a case-control design in a study of 73 subjects (34M; 39F) with genetically confirmed PWS in 32 individuals previously diagnosed with moderate to severe scoliosis (mean age=16...
December 6, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29251752/-psychosis-in-a-patient-with-prader-willi-syndrome
#9
W Merckx, W Lecot, K Titeca
Prader-Willi syndrome (pws) is a genetic disorder characterised by specific physical and behavioural abnormalities. Recent studies indicate that patients suffering from this syndrome have an increased risk of psychiatric disorders, including psychosis. We describe the development and the psychiatric condition of a 31-year-old patient with pws who had a first psychotic episode at age 14 and subsequently experienced a highly variable course of recovery and relapse.
2017: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29247433/emla-cream-does-not-influence-efficacy-and-pain-reduction-during-pulsed-dye-laser-treatment-of-port-wine-stain-a-prospective-side-by-side-comparison
#10
Wenxin Yu, Tianyou Wang, Jiafang Zhu, Yajing Qiu, Hui Chen, Yunbo Jin, Xi Yang, Xiaojie Hu, Lei Chang, Yijie Chen, Gang Ma, Xiaoxi Lin
EMLA cream was developed to reduce pain during pulsed-dye laser (PDL) treatment; however, no standard assessment for the therapeutic outcomes of PDL with EMLA creams thus far available. This comparative, prospective clinical trial evaluates laser efficacy and pain reduction during PDL treatment with EMLA cream for local topical anesthesia. Nineteen patients with untreated port-wine stain (PWS) were treated using PDL and examined in this study. Treatment specifications included Vbeam® PDL (Candela Corp.), 595-nm wavelength, 9 J/cm2 radiant exposure, 0...
December 15, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/29244834/factors-influencing-psychological-well-being-in-patients-with-parkinson-s-disease
#11
Alessandra Nicoletti, Giovanni Mostile, Fabrizio Stocchi, Giovanni Abbruzzese, Roberto Ceravolo, Pietro Cortelli, Marco D'Amelio, Maria F De Pandis, Giovanni Fabbrini, Claudio Pacchetti, Gianni Pezzoli, Alessandro Tessitore, Margherita Canesi, Mario Zappia
BACKGROUND: Both motor and non-motor symptoms could contribute to significant deterioration of psychological well-being in patients with Parkinson's disease (PD). However, its assessment has been only indirectly evaluated using tools based on health-related quality of life (HRQoL), such as the PDQ-39 scale. OBJECTIVES: To evaluate psychological well-being in PD using a specific tool of assessment, the Psychological Well-being Scale (PWS), and its clinical correlates...
2017: PloS One
https://www.readbyqxmd.com/read/29237924/glaucoma-in-patients-with-eyes-close-to-areas-affected-by-port-wine-stain-has-lateral-and-gender-predilection
#12
Yue Wu, Ru-Jing Yu, Di Chen, Li Xu, Mao Li, Li Zhu, Chun-Yu Guo, Wen-Yi Guo
BACKGROUND: The location of facial port-wine stain (PWS) may be helpful for predicting some associated anomalies; high glaucoma incidence is found in patients with eyes close to PWS-affected areas (V1, ophthalmic branch area of the trigeminal nerve). This study aimed to investigate the characteristics of glaucoma in V1-affected PWS. METHODS: A total of 569 patients with V1 area-affected PWS were reviewed in the study. The large series was based on the referral system between the Department of Plastic and Reconstructive Surgery and the Department of Ophthalmology...
December 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29228278/zinc-finger-protein-274-regulates-imprinted-expression-of-transcripts-in-prader-willi-syndrome-neurons
#13
Maéva Langouët, Heather R Glatt-Deeley, Michael S Chung, Clémence M Dupont-Thibert, Elodie Mathieux, Erin C Banda, Christopher E Stoddard, Leann Crandall, Marc Lalande
Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay and hyperphagia/obesity and is caused by the absence of paternal contribution to chromosome 15q11-q13. Using induced pluripotent stem cell (iPSC) models of PWS, we previously discovered an epigenetic complex that is comprised of the zinc-finger protein ZNF274 and the SET domain bifurcated 1 (SETDB1) histone H3 lysine 9 (H3K9) methyltransferase and that silences the maternal alleles at the PWS locus. Here, we have knocked out ZNF274 and rescued the expression of silent maternal alleles in neurons derived from PWS iPSC lines, without affecting DNA methylation at the PWS-Imprinting Center (PWS-IC)...
December 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29219160/rainbows-supernumerary-rainbows-and-interference-effects-in-the-angular-scattering-of-chemical-reactions-an-investigation-using-heisenberg-s-s-matrix-programme
#14
Xiao Shan, Chengkui Xiahou, J N L Connor
In earlier research, we have demonstrated that broad "hidden" rainbows can occur in the product differential cross sections (DCSs) of state-to-state chemical reactions. Here we ask the question: can pronounced and localized rainbows, rather than broad hidden ones, occur in reactive DCSs? Further motivation comes from recent measurements by H. Pan and K. Liu, J. Phys. Chem. A, 2016, 120, 6712, of a "bulge" in a reactive DCS, which they conjecture is a rainbow. Our theoretical approach uses a "weak" version of Heisenberg's scattering matrix program (wHSMP) introduced by X...
December 8, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/29217318/ghrh-plus-arginine-and-arginine-administration-evokes-the-same-ratio-of-gh-isoforms-levels-in-young-patients-with-prader-willi-syndrome
#15
Antonello E Rigamonti, Antonino Crinò, Sarah Bocchini, Alessio Convertino, Martin Bidlingmaier, Michael Haenelt, Sofia Tamini, Silvano G Cella, Graziano Grugni, Alessandro Sartorio
Human GH is present in pituitary and circulation as several isoforms, the prevalent being 22kDa- and 20kDa-GH. Recently, we have demonstrated the preservation of a normal balance in GH isoforms after GH releasing hormone (GHRH) plus arginine (ARG) administration in adult patients with Prader-Willi syndrome (PWS), one of the most common causes of syndromic obesity, often associated with GH deficiency (GHD). Aim of the present study was to measure circulating levels of 22kDa- and 20kDa-GH in young PWS patients (n=24; F/M: 10/14; genotype UPD/DEL/met+: 11/11/2; age: 10...
November 27, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29212680/high-prevalence-of-acetabular-retroversion-in-asymptomatic-adults-a-3d-ct-based-study
#16
G I Wassilew, M O Heller, V Janz, C Perka, M Müller, L Renner
AIMS: This study sought to establish the prevalence of the cross over sign (COS) and posterior wall sign (PWS) in relation to the anterior pelvic plane (APP) in an asymptomatic population through reliable and accurate 3D-CT based assessment. MATERIALS AND METHODS: Data from pelvic CT scans of 100 asymptomatic subjects (200 hips) undertaken for conditions unrelated to disorders of the hip were available for analysis in this study. A previously established 3D analysis method was applied to assess the prevalence of the COS and PWS in relation to the APP...
December 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/29206687/a-review-of-clinical-trials-of-oxytocin-in-prader-willi-syndrome
#17
Lauren J Rice, Stewart L Einfeld, Nan Hu, C Sue Carter
PURPOSE OF REVIEW: PWS is a severe developmental disability for which there is no known treatment. The oxytocin system is currently a primary target for intervention. The aim of this article is to review the evidence for the efficacy of intranasal oxytocin in PWS. RECENT FINDINGS: To date, there have been five clinical trials of oxytocin in PWS. Four of these studies reported that oxytocin improved behaviors. However, each of these studies suffered important limitations that likely influenced the findings...
December 4, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29195625/the-experience-of-stuttering-among-ultra-orthodox-and-secular-traditional-jews
#18
Debora Freud, Ruth Ezrati-Vinacour, Nitza Katz-Bernstein, Leah Fostick
PURPOSE: This groundbreaking research compares the experience of stuttering among adult male People Who Stutter (PWS) from the ultra-Orthodox (UO) Jewish community in Israel to those from Secular/Traditional (ST) backgrounds. METHODS: Participants were 32 UO and 31 ST PWS, aged 18-67 years. Self-report questionnaires utilized: Perceived Stuttering Severity (PSS); Overall Assessment of the Speaker's Experience of Stuttering (OASES-A); Students' Life Satisfaction Scale (SLSS); Situation Avoidance Behavior Checklist (SABC)...
December 2017: Journal of Fluency Disorders
https://www.readbyqxmd.com/read/29194429/hazard-ranking-method-for-populations-exposed-to-arsenic-in-private-water-supplies-relation-to-bedrock-geology
#19
Helen Crabbe, Tony Fletcher, Rebecca Close, Michael J Watts, E Louise Ander, Pauline L Smedley, Neville Q Verlander, Martin Gregory, Daniel R S Middleton, David A Polya, Mike Studden, Giovanni S Leonardi
Approximately one million people in the UK are served by private water supplies (PWS) where main municipal water supply system connection is not practical or where PWS is the preferred option. Chronic exposure to contaminants in PWS may have adverse effects on health. South West England is an area with elevated arsenic concentrations in groundwater and over 9000 domestic dwellings here are supplied by PWS. There remains uncertainty as to the extent of the population exposed to arsenic (As), and the factors predicting such exposure...
December 1, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29189765/phylogenetic-analysis-of-the-snord116-locus
#20
Deborah J Good, Matthew A Kocher
The SNORD116 small nucleolar RNA locus (SNORD116@) is contained within the long noncoding RNA host gene SNHG14 on human chromosome 15q11-q13. The SNORD116 locus is a cluster of 28 or more small nucleolar (sno) RNAs; C/D box (SNORDs). Individual RNAs within the cluster are tandem, highly similar sequences, referred to as SNORD116-1, SNORD116-2, etc., with the entire set referred to as SNORD116@. There are also related SNORD116 loci on other chromosomes, and these additional loci are conserved among primates...
November 30, 2017: Genes
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