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Prader-Willi syndrome

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https://www.readbyqxmd.com/read/29933957/epigenetics-of-circadian-rhythms-in-imprinted-neurodevelopmental-disorders
#1
Rochelle L Coulson, Janine M LaSalle
DNA sequence information alone cannot account for the immense variability between chromosomal alleles within diverse cell types in the brain, whether these differences are observed across time, cell type, or parental origin. The complex control and maintenance of gene expression and modulation are regulated by a multitude of molecular and cellular mechanisms that layer on top of the genetic code. The integration of genetic and environmental signals required for regulating brain development and function is achieved in part by a dynamic epigenetic landscape that includes DNA methylation, histone modifications, and noncoding RNAs...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29925684/intranasal-carbetocin-reduces-hyperphagia-in-individuals-with-prader-willi-syndrome
#2
Elisabeth M Dykens, Jennifer Miller, Moris Angulo, Elizabeth Roof, Michael Reidy, Hind T Hatoum, Richard Willey, Guy Bolton, Paul Korner
BACKGROUND: Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder of life-threatening hyperphagia, obesity, intellectual deficits, compulsivity, and other behavioral problems. The efficacy and safety of i.n. carbetocin, an oxytocin analog, was evaluated in a prospective, randomized, double-blinded trial in adolescents with PWS. METHODS: Eligible patients aged 10-18 years with genetically confirmed PWS were randomized (1:1) to i.n. carbetocin or placebo 3 times daily for 14 days...
June 21, 2018: JCI Insight
https://www.readbyqxmd.com/read/29880780/hyperphagia-and-obesity-in-prader%C3%A2-willi-syndrome-pcsk1-deficiency-and-beyond
#3
REVIEW
Bruno Ramos-Molina, María Molina-Vega, José C Fernández-García, John W Creemers
Prader⁻Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 ( PCSK1 ) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected...
June 7, 2018: Genes
https://www.readbyqxmd.com/read/29878108/impaired-melanocortin-pathway-function-in-prader-willi-syndrome-gene-magel2-deficient-mice
#4
Merve Oncul, Pelin Dilsiz, Edanur Ates Oz, Tayfun Ates, Iltan Aklan, Esref Celik, Nilufer Sayar Atasoy, Deniz Atasoy
Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder causing social and learning deficits, impaired satiety and severe childhood obesity. Genetic underpinning of PWS involves deletion of a chromosomal region with several genes, including MAGEL2, which is abundantly expressed in the hypothalamus. Of appetite regulating hypothalamic cell types, both AGRP and POMC-expressing neurons contain Magel2 transcripts but the functional impact of its deletion on these cells has not been fully characterized. Here, we investigated these key neurons in Magel2-null mice in terms of the activity levels at different energy states as well as their behavioral function...
June 5, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29800646/cognitive-deficits-in-the-snord116-deletion-mouse-model-for-prader-willi-syndrome
#5
REVIEW
Anna Adhikari, Nycole A Copping, Beth Onaga, Michael C Pride, Rochelle L Coulson, Mu Yang, Dag H Yasui, Janine M LaSalle, Jill L Silverman
Prader-Willi syndrome (PWS) is an imprinted neurodevelopmental disease caused by a loss of paternal genes on chromosome 15q11-q13. It is characterized by cognitive impairments, developmental delay, sleep abnormalities, and hyperphagia often leading to obesity. Clinical research has shown that a lack of expression of SNORD116, a paternally expressed imprinted gene cluster that encodes multiple copies of a small nucleolar RNA (snoRNA) in both humans and mice, is most likely responsible for many PWS symptoms seen in humans...
May 22, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29793366/noninvasive-prenatal-testing-nipt-detects-variant-of-turner-syndrome-not-detectable-by-fluorescent-in-situ-hybridization
#6
Venkataswamy Eswarachari, Priya Kadam, Sireesha Movva, Shruthi Lingaiah, Riyaz M Akther, Franics X Kidangan, Kiran C Gowda, Rudra R K Golakoti, Meena Lall, Surbhi Mahajan, Pushpa Saviour, Ratna Puri, Ishwar C Verma, Ramprasad L Vedam
INTRODUCTION: Noninvasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman, and Prader-Willi syndromes in comparison to the available screening methods. Prenatal screening of Turners syndrome is possible by ultrasound in certain conditions only. Recently benefits of early detection and treatment of Turners syndrome has been emphasized, enforcing on accurate and early screening prenatally...
June 13, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29776967/multicentre-study-of-maternal-and-neonatal-outcomes-in-individuals-with-prader-willi-syndrome
#7
Preeti Singh, Ranim Mahmoud, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Roy Tamura, Elisabeth Dykens, Merlin G Butler, Dan J Driscoll, Virginia Kimonis
INTRODUCTION: Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited. OBJECTIVE: The aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes...
May 18, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#8
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29750570/orthognathic-correction-in-prader-willi-syndrome-occlusion-and-sleep-restored
#9
Keliang Kevin Xiao, Shikhar Tomur, Robert Beckerman, Kevin Cassidy, Michael Lypka
Children with Prader-Willi Syndrome (PWS) may present with a malocclusion and have a high propensity of developing obstructive sleep apnea (OSA). Obstructive sleep apnea is associated with short- and long-term adverse effects that negatively impact children with PWS. A case of a 15-year-old male with PWS, OSA, and a debilitating malocclusion is presented who underwent a combination of Le Fort 1 osteotomy, genioplasty, and tongue reduction to successfully treat his OSA and malocclusion. In select cases, orthognathic correction and other surgical therapies should be considered in patients with PWS...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29730598/molecular-genetic-classification-in-prader-willi-syndrome-a-multisite-cohort-study
#10
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll
BACKGROUND: Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. METHODS: High-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age...
May 5, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29717432/classifying-dysmorphic-syndromes-by-using-artificial-neural-network-based-hierarchical-decision-tree
#11
Merve Erkınay Özdemir, Ziya Telatar, Osman Eroğul, Yusuf Tunca
Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features...
June 2018: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/29703235/the-effects-of-bifidobacterium-animalis-ssp-lactis-b94-on-gastrointestinal-wellness-in-adults-with-prader-willi-syndrome-study-protocol-for-a-randomized-controlled-trial
#12
Zainab Alyousif, Jennifer L Miller, Mariana Y Sandoval, Chad W MacPherson, Varuni Nagulesapillai, Wendy J Dahl
BACKGROUND: Constipation is a frequent problem in adults with Prader-Willi syndrome. Certain probiotics have been shown to improve transit and gastrointestinal symptoms of adults with functional constipation. The aim of this study is to determine the effect of daily consumption of Bifidobacterium animalis ssp. lactis B94 (B. lactis B94) on stool frequency, stool form, and gastrointestinal symptoms in adults with Prader-Willi syndrome. METHODS: Adults with Prader-Willi syndrome (18-75 years old, n = 36) will be recruited and enrolled in a 20-week, randomized, double-blind, placebo-controlled, crossover study...
April 27, 2018: Trials
https://www.readbyqxmd.com/read/29700824/clinical-molecular-genetics-and-therapeutic-aspects-of-syndromic-obesity
#13
REVIEW
E Geets, M E C Meuwissen, W Van Hul
Obesity has become a major health problem worldwide. To date, more than 25 different syndromic forms of obesity are known in which one (monogenic) or multiple (polygenic) genes are involved. This review gives an overview of these forms and focuses more in detail on 6 syndromes: Prader Willi Syndrome and Prader Willi like phenotype, Bardet Biedl Syndrome, Alström Syndrome, Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation syndrome and 16p11.2 (micro)deletions. Years of research provided plenty of information on the molecular genetics of these disorders and the obesity phenotype leading to a more individualized treatment of the symptoms, however, many questions still remain unanswered...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29696788/delayed-peak-response-of-cortisol-to-insulin-tolerance-test-in-patients-with-prader-willi-syndrome
#14
Yuji Oto, Keiko Matsubara, Tadayuki Ayabe, Masahisa Shiraishi, Nobuyuki Murakami, Hiroshi Ihara, Tomoyo Matsubara, Toshiro Nagai
Deaths among children with Prader-Willi syndrome (PWS) are often related to only mild or moderate upper respiratory tract infections, and many causes of death remain unexplained. Several reports have hypothesized that patients with PWS may experience latent central adrenal insufficiency. However, whether PWS subjects suffer from alteration of the hypothalamus-pituitary-adrenal (HPA) axis remains unclear. This study aimed to explore the HPA axis on PWS. We evaluated the HPA axis in 36 PWS patients (24 males, 12 females; age range, 7 months to 12 years; median age 2...
June 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696774/functional-independence-of-taiwanese-children-with-prader-willi-syndrome
#15
Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Yin-Hsiu Chien, Ni-Chung Lee, Dau-Ming Niu, Mei-Chyn Chao, Fuu-Jen Tsai, Yen-Yin Chou, Chih-Kuang Chuang, Shuan-Pei Lin
Prader-Willi syndrome (PWS) is a genetic disorder with obesity, developmental delay, short stature, and behavioral abnormalities. The study aimed to assess the functional independence in children with PWS. The Functional Independence Measure for Children (WeeFIM) was used to evaluate 81 children with PWS (44 boys and 37 girls) with a median age of 11 years 1 month (range 2 years 8 months to 20 years 2 months) were recruited between January 2013 and December 2016. The mean total WeeFIM score was 103.8 (maximum 126)...
June 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696471/comprehensive-meta-analysis-reveals-association-between-multiple-imprinting-disorders-and-conception-by-assisted-reproductive-technology
#16
REVIEW
Victoria K Cortessis, Moosa Azadian, James Buxbaum, Fatimata Sanogo, Ashley Y Song, Intira Sriprasert, Pengxiao C Wei, Jing Yu, Karine Chung, Kimberly D Siegmund
PURPOSE: To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin. METHODS: We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB)...
April 25, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#17
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29691382/snord116-dependent-diurnal-rhythm-of-dna-methylation-in-mouse-cortex
#18
Rochelle L Coulson, Dag H Yasui, Keith W Dunaway, Benjamin I Laufer, Annie Vogel Ciernia, Yihui Zhu, Charles E Mordaunt, Theresa S Totah, Janine M LaSalle
Rhythmic oscillations of physiological processes depend on integrating the circadian clock and diurnal environment. DNA methylation is epigenetically responsive to daily rhythms, as a subset of CpG dinucleotides in brain exhibit diurnal rhythmic methylation. Here, we show a major genetic effect on rhythmic methylation in a mouse Snord116 deletion model of the imprinted disorder Prader-Willi syndrome (PWS). More than 23,000 diurnally rhythmic CpGs are identified in wild-type cortex, with nearly all lost or phase-shifted in PWS...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29685165/gastro-oesophageal-reflux-an-important-causative-factor-of-severe-tooth-wear-in-prader-willi-syndrome
#19
Ronnaug Saeves, Finn Strøm, Leiv Sandvik, Hilde Nordgarden
BACKGROUND: Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, such as decreased salivary flow rates and extreme tooth wear, have also been described. Studies have shown a significant increase in reflux symptoms in individuals with obstuctive sleep apnoea syndrome and increased BMI, both of which are typical findings in PWS. Gastro-oesophageal reflux disease (GORD) has been identified in some individuals with PWS and is a significant intrinsic factor in dental tooth wear...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29681103/comparison-of-perinatal-factors-in-deletion-versus-uniparental-disomy-in-prader-willi-syndrome
#20
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia Kimonis
Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes...
May 2018: American Journal of Medical Genetics. Part A
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