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Development and implementation of electronic growth charts for infants with Prader-Willi syndrome.
Rosenbloom ST, Butler MG
(2012) Am J Med Genet A 158A: 2743-9
MeSH Terms: Child, Preschool, Growth Charts, Humans, Infant, Infant, Newborn, Prader-Willi Syndrome, United States
Show Abstract · Added December 10, 2013
Pediatric growth charts are used to monitor children's growth and development, and assist in healthcare delivery and supervision. Researchers have developed syndrome-specific growth charts for several disorders in which affected children grow differently than unaffected children. Typical standardized growth curves have been recently reported in non-growth hormone treated infants with Prader-Willi syndrome (PWS) of both genders from birth to 36 months of age to support monitoring growth and nutritional status during infancy, and to guide growth hormone treatment and follow up. Electronic health record (EHR) systems serving pediatric populations can now incorporate interactive automated growth charts to assist the healthcare providers in clinical settings to monitor growth. The American Academy of Pediatrics has recommended that EHR systems incorporate syndrome-specific growth charts where feasible. This manuscript describes the experiences at two medical centers at different stages of incorporating electronic growth charts into the medical records on infants with rare disorders, using PWS as an illustration. The absence of readily available and accessible syndrome-specific standardized growth charts in other disorders causes challenges for EHR personnel and for healthcare providers who care for these children particularly in the growing electronic medical record environment.
Copyright © 2012 Wiley Periodicals, Inc.
0 Communities
1 Members
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7 MeSH Terms
Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome.
Morabito MV, Abbas AI, Hood JL, Kesterson RA, Jacobs MM, Kump DS, Hachey DL, Roth BL, Emeson RB
(2010) Neurobiol Dis 39: 169-80
MeSH Terms: Animals, Animals, Newborn, DNA Mutational Analysis, Disease Models, Animal, Feeding Behavior, Female, Gene Expression Regulation, Hand Strength, Humans, Hypothalamus, Male, Mice, Mice, Transgenic, Mutation, Prader-Willi Syndrome, Psychomotor Performance, RNA Editing, RNA, Messenger, Receptor, Serotonin, 5-HT2C
Show Abstract · Added July 28, 2012
RNA transcripts encoding the 2C-subtype of serotonin (5HT(2C)) receptor undergo up to five adenosine-to-inosine editing events to encode twenty-four protein isoforms. To examine the effects of altered 5HT(2C) editing in vivo, we generated mutant mice solely expressing the fully-edited (VGV) isoform of the receptor. Mutant animals present phenotypic characteristics of Prader-Willi syndrome (PWS) including a failure to thrive, decreased somatic growth, neonatal muscular hypotonia, and reduced food consumption followed by post-weaning hyperphagia. Though previous studies have identified alterations in both 5HT(2C) receptor expression and 5HT(2C)-mediated behaviors in both PWS patients and mouse models of this disorder, to our knowledge the 5HT(2C) gene is the first locus outside the PWS imprinted region in which mutations can phenocopy numerous aspects of this syndrome. These results not only strengthen the link between the molecular etiology of PWS and altered 5HT(2C) expression, but also demonstrate the importance of normal patterns of 5HT(2C) RNA editing in vivo.
3 Communities
2 Members
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19 MeSH Terms
'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.
Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T
(2003) Clin Genet 63: 79-81
MeSH Terms: Chromosome Deletion, Chromosomes, Human, Pair 15, Fetal Growth Retardation, Genomic Imprinting, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Male, Prader-Willi Syndrome, Translocation, Genetic
Added February 20, 2014
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1 Members
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11 MeSH Terms
Food choice in people with Prader-Willi syndrome: quantity and relative preference.
Joseph B, Egli M, Koppekin A, Thompson T
(2002) Am J Ment Retard 107: 128-35
MeSH Terms: Adult, Energy Intake, Feeding Behavior, Female, Food Preferences, Humans, Male, Prader-Willi Syndrome
Show Abstract · Added March 5, 2014
Two experiments were conducted to examine differences between people with Prader-Willi syndrome and an obese comparison group in choosing a larger quantity of food delivered after a delay (15, 30, or 60 seconds) or a small quantity of food delivered immediately. Individuals with Prader-Willi syndrome selected the larger food quantity. Choices by the obese comparison group tended to be equally divided between both options. Relative food preference influenced choosing the larger, delayed option in both groups. This effect appeared to be larger in the non-Prader-Willi syndrome group, but was not statistically significant. These results suggest perceived differences in food quantity may be an important determinant of food choice of people with Prader-Willi syndrome.
0 Communities
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8 MeSH Terms
Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome.
Joseph B, Egli M, Sutcliffe JS, Thompson T
(2001) Am J Med Genet 105: 71-5
MeSH Terms: Adolescent, Adult, Computers, False Positive Reactions, Female, Gene Dosage, Genomic Imprinting, Humans, Male, Memory, Observer Variation, Pattern Recognition, Visual, Phenotype, Prader-Willi Syndrome
Show Abstract · Added February 20, 2014
Seventeen patients with Prader-Willi syndrome (7 with paternal deletion of chromosome 15q11-q13 and 10 with maternal uniparental disomy [UPD]), and 9 controls performed a computerized visual recognition task. A series of color digital photographs were presented; most were presented twice, but the remainder appeared only once. Photographs presented twice were separated in their presentation by either 0, 10, 30, 50 or 100 intervening photographs. Subjects indicated whether each photograph had been presented previously. This procedure was implemented twice, once using photographs of foods, and once using photographs of nonfood objects. As the number of intervening photographs between the first and second presentation increased, subjects were less likely to remember having seen the photograph before. Performance by UPD subjects was less affected by increasing the number of intervening photographs relative to the other two groups, suggesting they had superior visual recognition memory. This raises the possibility of a beneficial effect of having two copies maternally expressed genes on chromosome 15. UBE3A is suggested as a possible candidate for this effect.
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14 MeSH Terms
Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome.
Dimitropoulos A, Feurer ID, Roof E, Stone W, Butler MG, Sutcliffe J, Thompson T
(2000) Ment Retard Dev Disabil Res Rev 6: 125-30
MeSH Terms: Brain, Compulsive Behavior, Humans, Neuropeptides, Prader-Willi Syndrome, Serotonin, gamma-Aminobutyric Acid
Show Abstract · Added February 20, 2014
Advances in genetic research have led to an increased understanding of genotype-phenotype relationships. Excessive eating and weight gain characteristic of Prader-Willi syndrome (PWS) have been the understandable focus of much of the research. The intense preoccupation with food, lack of satiation, and incessant food seeking are among the most striking features of PWS. It has become increasingly clear that the behavioral phenotype of PWS also includes symptoms similar to obsessive compulsive disorder, which in all probability interact with the incessant hunger and lack of satiation to engender the intense preoccupation and food seeking behavior that is characteristic of this disorder. Several lines of evidence suggest that genetic material on chromosome 15 may alter synthesis, release, metabolism, binding, intrinsic activity, or reuptake of specific neurotransmitters, or alter the receptor numbers and/or distribution involved in modulating feeding. Among the likely candidates are GABAnergic, serotonergic, and neuropeptidergic mechanisms. This review summarizes what is known about the appetitive behavior and compulsivity in PWS and discusses the possible mechanisms underlying these behaviors. MRDD Research Reviews 2000;6:125-130.
Copyright 2000 Wiley-Liss, Inc.
0 Communities
1 Members
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7 MeSH Terms
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH
(1998) Genome Res 8: 146-57
MeSH Terms: Angelman Syndrome, Base Composition, Chromosome Mapping, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 15, Genetic Markers, Humans, Polymorphism, Genetic, Prader-Willi Syndrome, Sequence Tagged Sites
Show Abstract · Added February 20, 2014
Prader-Willi syndrome and Angelman syndrome are associated with parent-of-origin-specific abnormalities of chromosome 15q11-q13, most frequently a deletion of an approximately 4-Mb region. Because of genomic imprinting, paternal deficiency of this region leads to PWS and maternal deficiency to AS. Additionally, this region is frequently involved in other chromosomal rearrangements including duplications, triplications, or supernumerary marker formation. A detailed physical map of this region is important for elucidating the genes and mechanisms involved in genomic imprinting, as well as for understanding the mechanism of recurrent chromosomal rearrangments. An initial YAC contig extended from D15S18 to D15S12 and was comprised of 23 YACs and 21 STSs providing an average resolution of about one STS per 200 kb. To close two gaps in this contig, YAC screening was performed using two STSs that flank the gap between D15S18 and 254B5R and three STSs located distal to the GABRA5-149A9L gap. Additionally, we developed 11 new STSs, including seven polymorphic markers. Although several groups have developed whole-genome genetic and radiation hybrid maps, the depth of coverage for 15q11-q13 has been somewhat limited and discrepancies in marker order exist between the maps. To resolve the inconsistencies and to provide a more detailed map order of STSs in this region, we have constructed an integrated YAC STS-based physical map of chromosome 15q11-q13 containing 118 YACs and 118 STSs, including 38 STRs and 49 genes/ESTs. Using an estimate of 4 Mb for the size of this region, the map provides an average STS spacing of 35 kb. This map provides a valuable resource for identification of disease genes localized to this region as well as a framework for complete DNA sequencing.
0 Communities
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10 MeSH Terms
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome.
Sutcliffe JS, Han M, Christian SL, Ledbetter DH
(1997) Lancet 350: 1520-1
MeSH Terms: Animals, Chromosome Mapping, Humans, Mice, Nerve Tissue Proteins, Nuclear Proteins, Polymerase Chain Reaction, Prader-Willi Syndrome
Added February 20, 2014
0 Communities
1 Members
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8 MeSH Terms
Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.
Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL
(1997) Genome Res 7: 642-8
MeSH Terms: Alleles, Autoantigens, Cells, Cultured, Chromosomes, Human, Pair 15, Cloning, Molecular, CpG Islands, DNA Methylation, DNA-Cytosine Methylases, Exons, Gene Expression, HeLa Cells, Humans, Methylation, Molecular Sequence Data, Polymerase Chain Reaction, Prader-Willi Syndrome, Promoter Regions, Genetic, Repetitive Sequences, Nucleic Acid, Ribonucleoproteins, Small Nuclear, Sequence Analysis, DNA, Transfection, snRNP Core Proteins
Show Abstract · Added February 20, 2014
The gene encoding the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) maps to the Prader-Willi syndrome critical region on chromosome 15 and is expressed preferentially from the paternal allele. A CpG island encompassing the first exon of SNRPN is methylated on the inactive maternal allele. DNA sequence was determined for a cosmid containing the first three exons of SNRPN and extending 20 kb upstream and 15 kb downstream from the CpG island. This region is extremely rich in Alu elements and other repetitive sequences and contains a single CpG island, which includes numerous short direct repeat sequences. Functional analysis of the first exon revealed strong promoter activity for a 260-bp fragment extending 207 bp upstream from the exon. In vitro methylation of this 260-bp fragment abolished promoter activity completely, suggesting that the silencing of the maternal SNRPN allele may be a direct consequence of methylation of the promoter region.
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22 MeSH Terms
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL
(1997) Genome Res 7: 368-77
MeSH Terms: Amino Acid Sequence, Angelman Syndrome, Animals, Blotting, Northern, Blotting, Southern, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 15, Cloning, Molecular, Cosmids, Electrophoresis, Gel, Pulsed-Field, Female, Gene Deletion, Gene Dosage, Gene Expression Regulation, Developmental, Genetic Markers, Genomic Imprinting, Humans, In Situ Hybridization, Ligases, Male, Mice, Mice, Mutant Strains, Molecular Sequence Data, Paternity, Prader-Willi Syndrome, Sequence Homology, Amino Acid, Sequence Homology, Nucleic Acid, Tissue Distribution, Transcription, Genetic, Translocation, Genetic, Ubiquitin-Protein Ligases
Show Abstract · Added February 20, 2014
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct clinical phenotypes resulting from maternal and paternal deficiencies, respectively, in human chromosome 15qll-q13. Although several imprinted, paternally expressed transcripts have been identified within the PWS candidate region, no maternally expressed gene has yet been identified within the AS candidate region. We have developed an integrated physical map spanning the PWS and AS candidate regions and localized two breakpoints, including a cryptic t(14;15) translocation associated with AS and a non-AS 15q deletion, which substantially narrow the AS candidate region to approximately 250 kb. Mapping data indicate that the entire transcriptional unit of the E6-AP ubiquitin-protein ligase (UBE3A) gene lies within the AS region. The UBE3A locus expresses a transcript of approximately 5 kb at low to moderate levels in all tissues tested. The mouse homolog of UBE3A was cloned and sequenced revealing a high degree of conservation at nucleotide and protein levels. Northern and RT-PCR analysis of Ube3a expression in mouse tissues from animals with segmental, paternal uniparental disomy failed to detect substantially reduced or absent expression compared to control animals, failing to provide any evidence for maternal-specific expression from this locus. Recent identification of de novo truncating mutations in UBE3A taken with these observations indicates that mutations in UBE3A can lead to AS and suggests that this locus may encode both imprinted and biallelically expressed products.
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33 MeSH Terms