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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/29296618/lateral-hypothalamic-activity-indicates-hunger-and-satiety-states-in-humans
#6
Omid Talakoub, Raquel R Paiva, Matija Milosevic, Marcelo Q Hoexter, Ruth Franco, Eduardo Alho, Jessie Navarro, José F Pereira, Milos R Popovic, Cary Savage, Antonio C Lopes, Pedro Alvarenga, Durval Damiani, Manoel J Teixeira, Euripides C Miguel, Erich T Fonoff, Marcelo C Batistuzzo, Clement Hamani
Lateral hypothalamic area (LHA) local field potentials (LFPs) were recorded in a Prader-Willi patient undergoing deep brain stimulation (DBS) for obesity. During hunger, exposure to food-related cues induced an increase in beta/low-gamma activity. In contrast, recordings during satiety were marked by prominent alpha rhythms. Based on these findings, we have delivered alpha-frequency DBS prior to and during food intake. Despite reporting an early sensation of fullness, the patient continued to crave food. This suggests that the pattern of activity in LHA may indicate hunger/satiety states in humans but attest to the complexity of conducting neuromodulation studies in obesity...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29273483/growth-hormone-receptor-ghr-gene-polymorphism-and-scoliosis-in-prader-willi-syndrome
#7
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
#8
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/29230619/neuroanatomical-and-molecular-correlates-of-cognitive-and-behavioural-outcomes-in-hypogonadal-males
#9
O B Akinola, M O Gabriel
Robust epidemiological, clinical and laboratory evidence supports emerging roles for the sex steroids in such domains as neurodevelopment, behaviour, learning and cognition. Regions of the mammalian brain that are involved in cognitive development and memory do not only express the classical nuclear androgen receptor, but also the non-genomic membrane receptor, which is a G protein-coupled receptor that mediates some rapid effects of the androgens on neurogenesis and synaptic plasticity. Under physiological conditions, hippocampal neurons do express the enzyme aromatase, and therefore actively aromatize testosterone to oestradiol...
December 11, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29228278/zinc-finger-protein-274-regulates-imprinted-expression-of-transcripts-in-prader-willi-syndrome-neurons
#10
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/29217599/ers-statement-on-obstructive-sleep-disordered-breathing-in-1-to-23-month-old-children
#11
Athanasios G Kaditis, Maria Luz Alonso Alvarez, An Boudewyns, Francois Abel, Emmanouel I Alexopoulos, Refika Ersu, Koen Joosten, Helena Larramona, Silvia Miano, Indra Narang, Hui-Leng Tan, Ha Trang, Marina Tsaoussoglou, Nele Vandenbussche, Maria Pia Villa, Dick Van Waardenburg, Silke Weber, Stijn Verhulst
The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified. Morbidity (pulmonary hypertension, growth delay, behavioural problems) and coexisting conditions (feeding difficulties, recurrent otitis media) may be present...
December 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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
#12
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/29206687/a-review-of-clinical-trials-of-oxytocin-in-prader-willi-syndrome
#13
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/29194524/functional-sequencing-read-annotation-for-high-precision-microbiome-analysis
#14
Chengsheng Zhu, Maximilian Miller, Srinayani Marpaka, Pavel Vaysberg, Malte C Rühlemann, Guojun Wu, Femke-Anouska Heinsen, Marie Tempel, Liping Zhao, Wolfgang Lieb, Andre Franke, Yana Bromberg
The vast majority of microorganisms on Earth reside in often-inseparable environment-specific communities-microbiomes. Meta-genomic/-transcriptomic sequencing could reveal the otherwise inaccessible functionality of microbiomes. However, existing analytical approaches focus on attributing sequencing reads to known genes/genomes, often failing to make maximal use of available data. We created faser (functional annotation of sequencing reads), an algorithm that is optimized to map reads to molecular functions encoded by the read-correspondent genes...
November 29, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29189765/phylogenetic-analysis-of-the-snord116-locus
#15
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
https://www.readbyqxmd.com/read/29184809/review-of-prader-willi-syndrome-the-endocrine-approach
#16
REVIEW
Ryan Heksch, Manmohan Kamboj, Kathryn Anglin, Kathryn Obrynba
Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency (GHD), hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density (BMD). In addition to hypothalamic dysfunction, individuals with PWS have increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM)...
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29168388/primer-in-genetics-and-genomics-article-6-basics-of-epigenetic-control
#17
Kristen L Fessele, Fay Wright
The epigenome is a collection of chemical compounds that attach to and overlay the DNA sequence to direct gene expression. Epigenetic marks do not alter DNA sequence but instead allow or silence gene activity and the subsequent production of proteins that guide the growth and development of an organism, direct and maintain cell identity, and allow for the production of primordial germ cells (PGCs; ova and spermatozoa). The three main epigenetic marks are (1) histone modification, (2) DNA methylation, and (3) noncoding RNA, and each works in a different way to regulate gene expression...
January 1, 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/29159982/temple-syndrome-as-a-differential-diagnosis-to-prader-willi-syndrome-identifying-three-new-patients
#18
Asgeir Lande, Mette Kroken, Kai Rabben, Lars Retterstøl
The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150898/a-model-to-characterize-psychopathological-features-in-adults-with-prader-willi-syndrome
#19
Denise Thuilleaux, Virginie Laurier, Pierre Copet, Julie Tricot, Geneviève Demeer, Fabien Mourre, Maithé Tauber, Joseba Jauregi
High prevalence of behavioral and psychiatric disorders in adults with Prader-Willi Syndrome (PWS) has been reported in last few years. However, data are confusing and often contradictory. In this article, we propose a model to achieve a better understanding of the psychopathological features in adults with PWS. The study is based on clinical observations of 150 adult inpatients, males and females. Non-parametric statistics were performed to analyse the association of psychopathological profiles with genotype, gender and age...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29143554/the-octanoylated-energy-regulating-hormone-ghrelin-an-expanded-view-of-ghrelin-s-biological-interactions-and-avenues-for-controlling-ghrelin-signaling
#20
Elizabeth R Cleverdon, Kayleigh R McGovern-Gooch, James L Hougland
Ghrelin is a small peptide hormone that requires a unique post-translational modification, serine octanoylation, to bind and activate the GHS-R1a receptor. Initially demonstrated to stimulate hunger and appetite, ghrelin-dependent signaling is implicated in a variety of neurological and physiological processes influencing diseases such as diabetes, obesity, and Prader-Willi syndrome. In addition to its cognate receptor, recent studies have revealed ghrelin interacts with a range of binding partners within the bloodstream...
November 16, 2017: Molecular Membrane Biology
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