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prader willi syndrome

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28984907/prader-willi-syndrome-genetic-subtypes-and-clinical-neuropsychiatric-diagnoses-in-residential-care-adults
#10
Ann M Manzardo, Nicolette Weisensel, Sheryl Ayala, Waheeda Hossain, Merlin G Butler
The historical diagnosis of Prader-Willi syndrome (PWS), a complex genetic disorder, in adults by clinical presentation rather than genetic testing has limited genetic subtype-specific psychometric investigations and treatment. Genetic testing and clinical psychiatric evaluation using DSM-IV-TR criteria were undertaken on 72 adult residents (34M; 38F) from the Prader-Willi Homes of Oconomowoc (PWHO), a specialty PWS group home system. Methylation specific-multiplex ligation probe amplification and high-resolution microarrays were analyzed for methylation status, 15q11-q13 deletions and maternal uniparental disomy 15 (mUPD15)...
October 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28980100/brief-report-repetitive-behaviour-profiles-in-williams-syndrome-cross-syndrome-comparisons-with-prader-willi-and-down-syndromes
#11
R Royston, C Oliver, J Moss, D Adams, K Berg, C Burbidge, P Howlin, L Nelson, C Stinton, J Waite
This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome...
October 4, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28973544/loss-of-the-imprinted-non-coding-snord116-gene-cluster-in-the-interval-deleted-in-the-prader-willi-syndrome-results-in-murine-neuronal-and-endocrine-pancreatic-developmental-phenotypes
#12
Lisa Cole Burnett, Gabriela Hubner, Charles LeDuc, Michael V Morabito, Jayne F Martin Carli, Rudolph L Leibel
Global neurodevelopmental delay is a prominent characteristic of individuals with Prader-Willi syndrome (PWS). The neuromolecular bases for these delays are unknown. We identified neuroanatomical changes in the brains of mice deficient for a gene in the minimal critical deletion region for PWS (Snord116p-/m+). In Snord116p-/m+ mice, reduced primary forebrain neuron cell body size is apparent in embryonic day 15.5 fetuses, and persists until postnatal day 30 in cerebellar purkinje neurons. Snord116 is a snoRNA gene cluster of unknown function that can localize to the nucleolus...
September 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28973533/the-prader-willi-syndrome-proteins-magel2-and-necdin-regulate-leptin-receptor-cell-surface-abundance-through-ubiquitination-pathways
#13
Tishani Methsala Wijesuriya, Leentje De Ceuninck, Delphine Masschaele, Matthea R Sanderson, Karin Vanessa Carias, Jan Tavernier, Rachel Wevrick
In Prader-Willi syndrome (PWS), obesity is caused by the disruption of appetite-controlling pathways in the brain. Two PWS candidate genes encode MAGEL2 and necdin, related melanoma antigen proteins that assemble into ubiquitination complexes. Mice lacking Magel2 are obese and lack leptin sensitivity in hypothalamic pro-opiomelanocortin neurons, suggesting dysregulation of leptin receptor (LepR) activity. Hypothalamus from Magel2-null mice had less LepR and altered levels of ubiquitin pathway proteins that regulate LepR processing (Rnf41, Usp8, and Stam1)...
November 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28971315/prader-willi-syndrome-a-common-epigenetic-cause-of-syndromic-obesity
#14
REVIEW
Neerja Gupta, Vandana Jain
No abstract text is available yet for this article.
November 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28967604/-neonatal-presentation-of-prader-willi-syndrome-a-report-of-five-cases
#15
B Richard-De Ceaurriz, C Leymarie, A Godefroy, P Collignon, S Sigaudy, P Truc
Prader-Willi syndrome (PWS) is a fingerprint disease caused by the loss of paternally inherited chromosome 15q11.2-q13. In several populations studied, prevalence is estimated to be from 1/10,000 to 1/25,000 births. The disease initially manifests by neonatal hypotonia associated with orality disorders. Secondly, hyperphagia appears with significant obesity and hypogonadism. Motor milestones and language development are delayed, and all individuals have variable degrees of cognitive disability during childhood...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28956320/oxytocin-and-prader-willi-syndrome
#16
Anahid Kabasakalian, Casara J Ferretti, Eric Hollander
In the chapter, we explore the relationship between the peptide hormone, oxytocin (OT), and behavioral and metabolic disturbances observed in the genetic disorder Prader-Willi Syndrome (PWS). Phenotypic and genotypic characteristics of PWS are described, as are the potential implications of an abnormal OT system with respect to neural development including the possible effects of OT dysfunction on interactions with other regulatory mediators, including neurotransmitters, neuromodulators, and hormones. The major behavioral characteristics are explored in the context of OT dysfunction, including hyperphagia, impulsivity, anxiety and emotion dysregulation, sensory processing and interoception, repetitive and restrictive behaviors, and dysfunctional social cognition...
September 28, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28938886/congenital-hypothyroidism-due-to-ectopic-sublingual-thyroid-gland-in-prader-willi-syndrome-a-case-report
#17
Sarah Bocchini, Danilo Fintini, Graziano Grugni, Arianna Boiani, Alessio Convertino, Antonino Crinò
BACKGROUND: Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). CASE PRESENTATION: We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed...
September 22, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#18
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
September 19, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#19
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
https://www.readbyqxmd.com/read/28895429/effectiveness-of-adenotonsillectomy-and-risk-of-velopharyngeal-insufficiency-in-children-with-prader-willi-syndrome
#20
COMPARATIVE STUDY
Reema Padia, Harlan Muntz, Kathleen Pfeffer, Jeremy Meier
OBJECTIVES: (1) Review effectiveness of adenotonsillectomy (T&A) for obstructive sleep apnea (OSA) in children with Prader-Willi syndrome (PW). (2) Examine the incidence of velopharyngeal insufficiency (VPI) after T&A in this population. (3) Compare outcomes of T&A in PW and Trisomy 21 (T21) patients. METHODS: Outcomes after T&A in a PW cohort were retrospectively reviewed and compared to those in patients with T21. RESULTS: The study cohort included 22 PW patients...
November 2017: Annals of Otology, Rhinology, and Laryngology
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