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Prader-Willi syndrome

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https://www.readbyqxmd.com/read/29230619/neuroanatomical-and-molecular-correlates-of-cognitive-and-behavioural-outcomes-in-hypogonadal-males
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/29141973/energy-metabolism-profile-in-individuals-with-prader-willi-syndrome-and-implications-for-clinical-management-a-systematic-review
#13
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/29102298/orchidopexy-in-children-with-prader-willi-syndrome-results-of-a-long-term-follow-up-study
#14
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
#15
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/29073293/prader-willi-syndrome-nutritional-management-in-children-adolescents-and-adults
#16
REVIEW
Agata Krasińska, Bogda Skowrońska
Prader-Willi Syndrome is a genetic condition caused by an abnormality of chromosome 15, mostly resulting from a deletion.The prevalence of syndrome in Europe has been reported between 1 in 8,000 to 1 in 45,000 births. Characteristic features of the syndrome include hypotonia, short stature, psychomotor development delay, hypogonadism and progressive, life-threatening obesity. Treatment of Prader-Willi Syndrome consists of intensive rehabilitation, psychologicalcare, speech therapy and also, if patient is fulfilling appropriate criteria, growth hormone treatment...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29066024/dna-sequencing-and-copy-number-variation-analysis-of-mchr2-in-a-cohort-of-prader-willi-like-pwl-patients
#17
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/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#18
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B Van Den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management...
October 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#19
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
#20
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
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