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prader willi syndrome

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https://www.readbyqxmd.com/read/28427039/low-dose-growth-hormone-treatment-in-infants-and-toddlers-with-prader-willi-syndrome-is-comparable-to-higher-dosage-regimens
#1
Elly Scheermeyer, Mark Harris, Ian Hughes, Patricia A Crock, Geoffrey Ambler, Charles F Verge, Phil Bergman, George Werther, Maria E Craig, Catherine S Choong, Peter S W Davies
OBJECTIVE: Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very young children with Prader-Willi Syndrome (PWS). DESIGN: Prospective longitudinal clinical intervention. METHODS: We evaluated 31 infants (aged 2-12months) and 42 toddlers (13-24months) from the PWS-OZGROW database for height, weight and BMI using the World Health Organization standard deviation scores (SDSWHO) and PWS specific BMI (SDSPWS), bone age, insulin-like growth factor 1 (IGF-I) levels and adverse events over 3years of GHT...
March 24, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28424273/certainty-of-genuine-treatment-increases-drug-responses-among-intellectually-disabled-patients
#2
Karin B Jensen, Irving Kirsch, Moa Pontén, Annelie Rosén, Kathy Yang, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Aurore Curie
OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered...
April 19, 2017: Neurology
https://www.readbyqxmd.com/read/28402548/the-acylated-unacylated-ghrelin-ratio-is-similar-in-acromegaly-patients-during-different-treatment-regimens
#3
Ammar Muhammad, Patric J D Delhanty, Martin Huisman, Jenny A Visser, Aart Jan van der Lelij, Sebastian J C M M Neggers
Background: Data on plasma acylated ghrelin (AG) and unacylated ghrelin (UAG) levels in acromegaly are limited. High ratios of AG/UAG are linked with type 2 diabetes, obesity and hyperphagia (e.g. in Prader-Willi syndrome). Objective: To assess fasting plasma AG and UAG levels, and the AG/UAG ratio in acromegaly patients on combination treatment of long-acting somatostatin analogues and pegvisomant. As a control, we used patients controlled with pegvisomant monotherapy, and medically naïve patients with active acromegaly...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28387446/polymorphisms-in-the-srnpn-gene-are-associated-with-obesity-susceptibility-among-spanish-population
#4
David Albuquerque, Licínio Manco, Luz M González, Guillermo Gervasini, Goitzane Marcaida Benito, Juan R González, Raquel Rodríguez-López
BACKGROUND: SNRPN, which codes for the RNA-binding SmN protein, is a candidate gene for Prader-Willi syndrome. One characteristic of this neuroendocrine disorder is hyperphagia resulting in extreme obesity later in life. In this study we aim to assess whether variability within this gene could be implicated in obesity susceptibility. MATERIAL AND METHODS: A case-control study was performed including 265 unrelated patients with non-syndromic and early-onset severe obesity, belonging to high risk obesity families from Spanish ancestry; 184 healthy control individuals were included representative of the same genetic background and sex-matched...
April 7, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28387067/clinical-and-genetic-aspects-of-the-15q11-2-bp1-bp2-microdeletion-disorder
#5
M G Butler
BACKGROUND: The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader-Willi and Angelman syndromes. These syndromes were the first examples in humans of genomic imprinting and typically caused by a deletion but involving the distal chromosome 15q11-q13 breakpoint BP3 and proximally placed breakpoints BP1 or BP2 of different parental origin...
April 7, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28383347/at-home-transcranial-direct-current-stimulation-in-prader-willi-syndrome-with-severe-intellectual-disability-a-case-study
#6
Caroline Azevedo, July Silveira Gomes, Alisson Paulino Trevizol, Álvaro Machado Dias, Quirino Cordeiro
No abstract text is available yet for this article.
April 5, 2017: Journal of ECT
https://www.readbyqxmd.com/read/28371242/oxytocin-treatment-in-children-with-prader-willi-syndrome-a-double-blind-placebo-controlled-crossover-study
#7
Jennifer L Miller, Roy Tamura, Merlin G Butler, Virginia Kimonis, Carlos Sulsona, June-Anne Gold, Daniel J Driscoll
Prader-Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems, increased anxiety, and compulsive behaviors. Individuals with PWS have a deficit of oxytocin producing neurons in the paraventricular nucleus of the hypothalamus. Oxytocin plays a role in regulation of feeding behaviors, social interactions, and emotional reactivity, which are all issues that significantly affect the quality of life for individuals with this syndrome...
March 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28362475/the-genetic-basis-of-obesity-complications
#8
Katarzyna Skrypnik, Joanna Suliburska, Damian Skrypnik, Łukasz Pilarski, Julita Reguła, Paweł Bogdański
Intensive research is currently being performed into the genetic background of excess body mass compli- cations such as diabetes, cardiovascular disorders, especially atherosclerosis and coronary heart disease. Chronic inflammation is an important process in the pathogenesis of obesity, wherein there is an aberrant ex- pression of genes encoding adipokines. Visceral tissue is characterized by a higher expression and secretion of interleukin-8, interleukin-1ß and plasminogen activator inhibitor 1 in the subcutaneous tissue secretion of leptin prevails...
January 2017: Acta Scientiarum Polonorum. Technologia Alimentaria
https://www.readbyqxmd.com/read/28338743/incidental-memory-for-faces-in-children-with-different-genetic-subtypes-of-prader-willi-syndrome
#9
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
#10
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
#11
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
#12
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
#13
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
#14
M D Fountain, H Tao, C-A Chen, J Yin, C P Schaaf
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome (PWS)-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG) (OMIM #615547), a neurodevelopmental disorder related to PWS. 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 wild-type (WT) 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
#15
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
#16
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
#17
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
#18
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
#19
P Fontana, M Grasso, F Acquaviva, E Gennaro, M L Galli, M Falco, F Scarano, G Scarano, F 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 multiplex ligation-dependent probe amplification (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
#20
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
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