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https://www.readbyqxmd.com/read/28338743/incidental-memory-for-faces-in-children-with-different-genetic-subtypes-of-prader-willi-syndrome
#1
Alexandra P Key, Elisabeth M Dykens
The present study examined the effects of genetic subtype on social memory in children (7-16 years) with Prader-Willi syndrome (PWS). Visual event-related potentials (ERPs) during a passive viewing task were used to compare incidental memory traces for repeated vs single presentations of previously unfamiliar social (faces) and nonsocial (houses) images in 15 children with the deletion subtype and 13 children with maternal uniparental disomy (mUPD). While all participants perceived faces as different from houses (N170 responses), repeated faces elicited more positive ERP amplitudes ('old/new' effect, 250-500ms) only in children with the deletion subtype...
February 17, 2017: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/28331554/altered-functional-resting-state-hypothalamic-connectivity-and-abnormal-pituitary-morphology-in-children-with-prader-willi-syndrome
#2
Akvile Lukoshe, Suzanne E van Dijk, Gerbrich E van den Bosch, Aad van der Lugt, Tonya White, Anita C Hokken-Koelega
BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28323917/gh-treatment-in-children-with-prader-willi-syndrome-3-years-longitudinal-data-in-prepubertal-children-and-adult-height-data-from-kigs-database
#3
N E Bakker, A Lindberg, J Heissler, H A Wollmann, C Camacho-Hübner, A C Hokken-Koelega
Context: Longitudinal data of children with Prader-Willi syndrome (PWS) treated with Genotropin were registered in Pfizer-International-Growth-Database (KIGS). Objective: Evaluate efficacy and safety of GH-treatment in a unique large group of children with PWS. Design: Longitudinal data registered in KIGS, from 1987-2012. Setting: Worldwide retrospective cohort study. Patients: 522 prepubertal children treated with GH for 3 years and 173 children who had reached adult height...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28299717/physical-activity-and-maximal-oxygen-uptake-in-adults-with-prader-willi-syndrome
#4
Itai Gross, Harry J Hirsch, Naama Constantini, Shachar Nice, Yehuda Pollak, Larry Genstil, Talia Eldar-Geva, Varda Gross Tsur
BACKGROUND: Prader-Willi Syndrome (PWS) is the most common genetic syndrome causing life-threatening obesity. Strict adherence to a low-calorie diet and regular physical activity are needed to prevent weight gain. Direct measurement of maximal oxygen uptake (VO2 max), the "gold standard" for assessing aerobic exercise capacity, has not been previously described in PWS. OBJECTIVES: Assess aerobic capacity by direct measurement of VO2 max in adults with PWS, and in age and BMI-matched controls (OC), and compare the results with values obtained by indirect prediction methods...
March 16, 2017: Eating and Weight Disorders: EWD
https://www.readbyqxmd.com/read/28296370/-use-of-recombinant-human-growth-hormone-rhgh
#5
Raúl Calzada-León
Recombinant human growth hormone, synthesized in E.coli or mammalian cells cultures, is since 1985, a useful therapeutic resource to increase growth velocity and final height. In this paper are discussed the four phases (aims, security and efficacy, utility and efficiency) indispensables to define the start of treatment, as well as the absolute, relative and metabolic indications and the transitory and permanent conditions that contraindicate its use. It is commented the way to optimize the results (simple but indispensables indications for the physician, the patients and their family)...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28296079/magel2-knockout-mice-manifest-altered-social-phenotypes-and-a-deficit-in-preference-for-social-novelty
#6
Michael D Fountain, Huifang Tao, Chun-An Chen, Jiani Yin, Christian P Schaaf
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (OMIM #615547), a neurodevelopmental disorder related to Prader-Willi syndrome. Affected individuals manifest a spectrum of neurocognitive and behavioral phenotypes, including intellectual disability and autism spectrum disorder (ASD). Magel2 knockout mice carrying a maternally inherited, imprinted wildtype allele and a paternally inherited Magel2-lacZ knock-in allele, which abolishes endogenous Magel2 gene function, exhibit several features reminiscent of the human Prader-Willi phenotypes, including neonatal growth retardation, excessive weight gain after weaning, and increased adiposity in adulthood...
March 13, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28296064/box-c-d-small-nucleolar-rna-genes-and-the-prader-willi-syndrome-a-complex-interplay
#7
REVIEW
Jérôme Cavaillé
The nucleolus of mammalian cells contains hundreds of box C/D small nucleolar RNAs (SNORDs). Through their ability to base pair with ribosomal RNA precursors, most play important roles in the synthesis and/or activity of ribosomes, either by guiding sequence-specific 2'-O-methylations or by facilitating RNA folding and cleavages. A growing number of SNORD genes with elusive functions have been discovered recently. Intriguingly, the vast majority of them are located in two large, imprinted gene clusters at human chromosome region 15q11q13 (the SNURF-SNRPN domain) and at 14q32 (the DLK1-DIO3 domain) where they are expressed, respectively, only from the paternally and maternally inherited alleles...
March 13, 2017: Wiley Interdisciplinary Reviews. RNA
https://www.readbyqxmd.com/read/28285653/the-use-of-magnetic-resonance-imaging-to-characterize-abnormal-body-composition-phenotypes-in-youth-with-prader-willi-syndrome
#8
Camila E Orsso, Michelle Mackenzie, Angela S Alberga, Arya M Sharma, Lawrence Richer, Daniela A Rubin, Carla M Prado, Andrea M Haqq
INTRODUCTION: Magnetic resonance imaging (MRI) provides detailed assessment of body composition compartments. No studies have employed state-of-the-art MRI methods to accurately examine abdominal adipose tissue (AT) and skeletal muscle in youth with Prader-Willi syndrome (PWS). Therefore, this study aimed to describe AT distribution and skeletal muscle in the abdominal region of youth with PWS using MRI. METHODS: Anthropometric measures and whole-abdominal T1-weighted MRI were performed in sixteen (5 males and 11 females) youth diagnosed with PWS, and seventeen (10 males and 7 females) youth who did not have PWS (controls)...
April 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28281571/a-de-novo-nonsense-mutation-in-magel2-in-a-patient-initially-diagnosed-as-opitz-c-similarities-between-schaaf-yang-and-opitz-c-syndromes
#9
Roser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, Sílvia Mort-Farre, Neus Roca-Ayats, Julia Ponomarenko, Luca Cozzuto, Carlos Company, Mattia Bosio, Stephan Ossowski, Magda Montfort, Jochen Hecht, Eduardo F Tizzano, Bru Cormand, Lluïsa Vilageliu, John M Opitz, Giovanni Neri, Daniel Grinberg, Susana Balcells
Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different patterns of inheritance and genetic heterogeneity are known in this syndrome. Whole exome and genome sequencing of a 19-year-old girl (P7), initially diagnosed with OTCS, revealed a de novo nonsense mutation, p.Q638*, in the MAGEL2 gene. MAGEL2 is an imprinted, maternally silenced, gene located at 15q11-13, within the Prader-Willi region...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28266087/rigidity-in-routines-and-the-development-of-resistance-to-change-in-individuals-with-prader-willi-syndrome
#10
E L Haig, K A Woodcock
BACKGROUND: Individuals with Prader-Willi syndrome (PWS) commonly show debilitating resistance to change, which has been linked to cognitive deficits in task switching. Anecdotal reports suggest that exposure to flexibility in routines during development may be beneficial for limiting subsequent resistance to change in people with PWS, which is consistent with a beneficial role of such exposure on the development of task switching, highlighted in typical children. Here, we aim to investigate the development of resistance to change in individuals with PWS and hypothesise that exposure to increased rigidity in routines will be associated with increased subsequent resistance to change...
March 6, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28266014/snord116-deletions-cause-prader-willi-syndrome-with-a-mild-phenotype-and-macrocephaly
#11
Paolo Fontana, Marina Grasso, Fabio Acquaviva, Elena Gennaro, Maria Laura Galli, Mariateresa Falco, Francesca Scarano, Gioacchino Scarano, Fortunato Lonardo
Prader-Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader-Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the SNORD116 cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion usually is not detected by the classic DNA methylation analysis test. We present the case of a male patient with a mild Prader-Willi phenotype and a small deletion including SNORD116, diagnosed by methylation-sensitive MLPA...
March 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28264487/investigating-autism-related-symptoms-in-children-with-prader-willi-syndrome-a-case-study
#12
Jeffrey A Bennett, Sandra Hodgetts, Michelle L Mackenzie, Andrea M Haqq, Lonnie Zwaigenbaum
Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis...
February 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28253507/hormonal-and-metabolic-responses-to-a-single-bout-of-resistance-exercise-in-prader-willi-syndrome%C3%A2
#13
Daniela A Rubin, Susan J Clark, Andrea M Haqq, Diobel M Castner, Jason Ng, Daniel A Judelson
BACKGROUND: Prader-Willi syndrome (PWS) is characterized by excessive adiposity. Excess adiposity negatively affects hormonal and metabolic responses to aerobic exercise. This study determined whether PWS and/or adiposity affected hormonal and metabolic responses to resistance exercise. METHODS: Eleven children with PWS (11.4 ± 3.1 years, 43.9 ± 7.5% body fat), 12 lean children (9.3 ± 1.4 years, 18.3 ± 4.9% body fat), and 13 obese children (9.6 ± 1.3 years, 40...
March 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28228131/whole-genome-sequencing-of-one-complex-pedigree-illustrates-challenges-with-genomic-medicine
#14
Han Fang, Yiyang Wu, Hui Yang, Margaret Yoon, Laura T Jiménez-Barrón, David Mittelman, Reid Robison, Kai Wang, Gholson J Lyon
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants. METHODS: We illustrate an integrative analysis of WGS and HPO using an extended pedigree, which involves Prader-Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms...
February 23, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#15
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28208764/spatial-impairment-and-memory-in-genetic-disorders-insights-from-mouse-models
#16
Sang Ah Lee, Valter Tucci, Giorgio Vallortigara
Research across the cognitive and brain sciences has begun to elucidate some of the processes that guide navigation and spatial memory. Boundary geometry and featural landmarks are two distinct classes of environmental cues that have dissociable neural correlates in spatial representation and follow different patterns of learning. Consequently, spatial navigation depends both on the type of cue available and on the type of learning provided. We investigated this interaction between spatial representation and memory by administering two different tasks (working memory, reference memory) using two different environmental cues (rectangular geometry, striped landmark) in mouse models of human genetic disorders: Prader-Willi syndrome (PWScr(m+/p-) mice, n = 12) and Beta-catenin mutation (Thr653Lys-substituted mice, n = 12)...
February 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28196965/genomic-microdiversity-of-bifidobacterium-pseudocatenulatum-underlying-differential-strain-level-responses-to-dietary-carbohydrate-intervention
#17
Guojun Wu, Chenhong Zhang, Huan Wu, Ruirui Wang, Jian Shen, Linghua Wang, Yufeng Zhao, Xiaoyan Pang, Xiaojun Zhang, Liping Zhao, Menghui Zhang
The genomic basis of the response to dietary intervention of human gut beneficial bacteria remains elusive, which hinders precise manipulation of the microbiota for human health. After receiving a dietary intervention enriched with nondigestible carbohydrates for 105 days, a genetically obese child with Prader-Willi syndrome lost 18.4% of his body weight and showed significant improvement in his bioclinical parameters. We obtained five isolates (C1, C15, C55, C62, and C95) of one of the most abundantly promoted beneficial species, Bifidobacterium pseudocatenulatum, from a postintervention fecal sample...
February 14, 2017: MBio
https://www.readbyqxmd.com/read/28164030/the-dilemma-of-diagnostic-testing-for-prader-willi-syndrome
#18
REVIEW
Arabella Smith, Dorothy Hung
Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests...
January 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28130217/longitudinal-evaluation-of-sleep-disordered-breathing-in-infants-with-prader-willi-syndrome
#19
Abdullah Khayat, Indra Narang, Saadoun Bin-Hasan, Reshma Amin, Suhail Al-Saleh
OBJECTIVE: To evaluate the course of sleep disordered breathing (SDB) in infants with Prader-Willi syndrome (PWS). DESIGN: Retrospective longitudinal observational study. SETTING: Sleep laboratory at The Hospital for Sick Children, Toronto, Canada. PATIENTS: Infants with PWS. MAIN OUTCOME MEASURES: The natural history of SDB in infants with PWS within 2 years from baseline assessment. RESULTS: We identified 28 (12 male) infants with PWS who had a baseline polysomnography (PSG) at a median age (interquartile (IQR)) of 0...
January 27, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28119110/attitudes-toward-prenatal-genetic-testing-and-therapeutic-termination-of-pregnancy-among-parents-of-offspring-with-prader-willi-syndrome
#20
Noa Even-Zohar Gross, Talia Geva-Eldar, Yehuda Pollak, Harry J Hirsch, Itai Gross, Varda Gross-Tsur
INTRODUCTION: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. OBJECTIVE: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus...
April 2017: European Journal of Medical Genetics
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