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5. Sleep disturbances in Prader-Willi syndrome and the effects of topiramate and modafinil
Conclusion: These sleep disturbances and impact on BMI should be considered in the management of young persons with PWS, including the use of RYG diet, and TPM or MD. (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - May 18, 2013 Category: Neuroscience Authors: Lauren Hall, Colin Shapiro, Glenn Berall, Paul Hwang Tags: Society Proceedings Source Type: research
The Maintenance of Wakefulness Test in Pediatric Narcolepsy
This study reviewed the charts of children with narcolepsy who had an MWT performed between January 2008 and June 2012. A cutoff was used for mean sleep latency: 20 minutes to indicate adequate control on medications. Thirteen tests were performed on 10 children (median age 15.8 years, range 8.7-20.3 years) with narcolepsy, of which six had cataplexy and three were boys. Comorbid conditions included Prader-Willi syndrome, bipolar affective disorder, and epilepsy (n = 1 each). The median mean sleep latency for all studies was 16 minutes (range 5.8-40 minutes). Sleep-onset rapid eye movement sleep events were seen in three...
Source: Pediatric Neurology - May 15, 2013 Category: Neurology Authors: Stephanie Zandieh, Sriram Ramgopal, Umakanth Khatwa, Michelle SanGiuliano, Michael Gunnuscio, Marcin Zarowski, Sanjeev V. Kothare Tags: Original Articles Source Type: research
The girl who could eat herself to death: Ava, 5, has to be locked out of the kitchen due to condition that makes her constantly hungry
Ava Carvey, five, from Bromley, was diagnosed with Prader-Willi syndrome when she was nine-weeks-old. She is constantly hungry and would eat until she was sick if allowed uncontrolled access to food. (Source: the Mail online | Health)
Source: the Mail online | Health - April 29, 2013 Category: Consumer Health News Source Type: news
Kitchen workshop on the speech-language therapeutic processes of a patient with Prader-Willi syndrome
CONCLUSION: the Kitchen Workshops, under the position of a therapeutic speech-language method, showed the relevance of the biopsychic articulation in the treatment of patients whose organic marks determined limits and specifics to acquisition and circulation in the language, as in this case of Prader-Willi Syndrome. (Source: Revista CEFAC)
Source: Revista CEFAC - April 19, 2013 Category: Speech Therapy Source Type: research
Genetic Connections Identified In 15q Duplication Syndrome/Autism
A new study published in the March issue of Autism Research from the University of Tennessee Health Science Center and Le Bonheur researchers is making the genetic connections between autism and Chromosome 15q Duplication Syndrome (Dup15q). The Memphis researchers determined that the maternally derived or inherited duplication of the region inclusive of the UBE3A gene (also known as the Angelman/Prader-Willi syndrome locus) are sufficient to produce a phenotype on the autism spectrum in all ten maternal duplication subjects... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - March 28, 2013 Category: Consumer Health News Tags: Autism Source Type: news
Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection?
Conclusion(s): Imprinting disorders are more prevalent after human IVF or ICSI. Future studies should correct for fertility problems in the affected and comparison groups. It is highly improbable that assisted reproduction technologies cause imprinted diseases in humans. (Source: Fertility and Sterility)
Source: Fertility and Sterility - March 1, 2013 Category: Reproduction Medicine Authors: Jan P.W. Vermeiden, Rob E. Bernardus Tags: Views and reviews Source Type: research
Two Years of Growth Hormone Treatment in Adults With Prader-Willi Syndrome Do Not Improve the Low BMD.
Conclusions:Adult PWS subjects, especially the men, have low bone mass that was not improved with GH treatment for 2 years. Because PWS subjects are short, BMD might be underestimated and should be adjusted for. Further studies, with adequate GH and sex hormone replacement throughout puberty and early adult life, are needed to better characterize PWS. PMID: 23436915 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - February 22, 2013 Category: Endocrinology Authors: Jørgensen AP, Ueland T, Sode-Carlsen R, Schreiner T, Rabben KF, Farholt S, Høybye C, Christiansen JS, Bollerslev J Tags: J Clin Endocrinol Metab Source Type: research
Effects of growth hormone treatment in adults with Prader-Willi syndrome.
CONCLUSIONS: Previously reported beneficial effects of GH treatment in children with PWS were found in our adults regarding body composition, physical activity and plasma HDL and IGF-I levels. Several beneficial effects diminished to near baseline after cessation of GH treatment for 12months supporting the continuation of treatment in PWS into adulthood and possibly adults not previously treated during childhood. PMID: 23433655 [PubMed - as supplied by publisher] (Source: Growth Hormone and IGF Research)
Source: Growth Hormone and IGF Research - February 19, 2013 Category: Endocrinology Authors: Butler MG, Smith BK, Lee J, Gibson C, Schmoll C, Moore WV, Donnelly JE Tags: Growth Horm IGF Res Source Type: research
Mouse models of Prader-Willi Syndrome: A systematic review.
Abstract Prader-Willi Syndrome (PWS) is a neurodevelopmental genetic disorder caused by loss of expression of imprinted, paternally inherited genes on chromosome 15q11q13. This imprinted gene cluster has its homologous region on mouse chromosome 7C. The extremely well conserved synteny between the human and the murine regions gave origin to the generation of mouse models for PWS, which facilitated investigations of the role and function of single genes or gene clusters in the pathogenesis of this disease. In this review we will describe which mouse models have been generated so far and how they were developed; we w...
Source: Frontiers in Neuroendocrinology - February 4, 2013 Category: Endocrinology Authors: Bervini S, Herzog H Tags: Front Neuroendocrinol Source Type: research
Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome
CONCLUSIONS: An increased prevalence of congenital defects was found in our PWS patients. This finding suggests the need for further studies in PWS children that allow physicians to detect the congenital defects found in this series and, thus, to anticipate complications, with the ultimate aim of enhancing the management of PWS patients. (Source: PEDIATRICS)
Source: PEDIATRICS - February 1, 2013 Category: Pediatrics Authors: Torrado, M., Foncuberta, M. E., Perez, M. F. d. C., Gravina, L. P., Araoz, H. V., Baialardo, E., Chertkoff, L. P. Tags: Genetics & Dysmorphology Article Source Type: research
Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome
This study presents epidemiological data from children with Prader-Willi syndrome and demonstrates that these children have a significantly increased risk of having certain congenital defects. The presence of defects is independent of the etiologic subtypes. (Read the full article) (Source: PEDIATRICS)
Source: PEDIATRICS - February 1, 2013 Category: Pediatrics Tags: Pediatrics Digest Summary Source Type: research
The fractal dimension approach in posture: a comparison between Down and Prader-Willi syndrome patients.
Abstract The suitability of new dynamic system analysis was investigated to compare postural control in Prader-Willi syndrome (PWS) and Down syndrome (DS) patients. Time-domain, frequency-domain parameters and fractal dimension (FD) of centre of pressure (CoP) were computed in maintaining normal standing on a force platform in 20 DS and 13 PWS patients, compared to 26 obese (obese control group, OCG) and 20 healthy individuals (healthy control group, HCG). DS and PWS showed greater displacements along both directions and longer sway path (SP) parameter than HCG and OCG, with statistical differences between PWS and ...
Source: Computer Methods in Biomechanics and Biomedical Engineering - January 29, 2013 Category: Biomedical Engineering Authors: Cimolin V, Galli M, Rigoldi C, Grugni G, Vismara L, de Souza SA, Mainardi L, Albertini G, Capodaglio P Tags: Comput Methods Biomech Biomed Engin Source Type: research
Magel2 Is Required for Leptin-Mediated Depolarization of POMC Neurons in the Hypothalamic Arcuate Nucleus in Mice
by Rebecca E. Mercer, Sheldon D. Michaelson, Melissa J. S. Chee, Tanya A. Atallah, Rachel Wevrick, William F. Colmers Prader-Willi Syndrome is the most common syndromic form of human obesity and is caused by the loss of function of several genes, including MAGEL2. Mice lacking Magel2 display increased weight gain with excess adiposity and other defects suggestive of hypothalamic deficiency. We demonstrate Magel2-null mice are insensitive to the anorexic effect of peripherally administered leptin. Although their excessive adiposity and hyperleptinemia likely contribute to this physiological leptin resistance, we hypoth...
Source: PLoS Genetics - January 17, 2013 Category: Genetics & Stem Cells Authors: Rebecca E. Mercer et al. Source Type: research
Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity
33;ment & C Poitou (Source: International Journal of Obesity)
Source: International Journal of Obesity - January 15, 2013 Category: Eating Disorders and Weight Management Authors: C Lloret-LinaresP FaucherM CoupayeR AliliA GreenA BasdevantK ClémentC Poitou Tags: hypothalamic obesity metabolic syndrome Prader Willi syndrome body composition basal metabolic rate Source Type: research
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment
Conclusions: To the best of our knowledge, this is the first case of pentasomy 15q11q13 and the first study of high copy number 15q11q13 in Han Chinese patients. Our findings demonstrate that patients with tetrasomy and pentasomy of chromosome 15q11q13 share similar spectrum of phenotypes reported in other high copy number 15q11q13 patients in the West, and positive correlation between 15q11q13 copy number and degree of severity of clinical phenotypes. Low birth weight observed in the pentasomy 15q11q13 patient was not reported in other patients with high copy number 15q11q13. Additional studies would be necessary to furth...
Source: BMC Medical Genetics - Latest articles - January 15, 2013 Category: Genetics & Stem Cells Authors: Jing YangYongchen YangYi HuangYan HuXi ChenHengjuan SunZhibao LvQian ChengLiming Bao Source Type: research
Prader-Willi syndrome and growth hormone therapy: effect on sleep
Because of reports that growth hormone therapy causes increased severity of obstructive sleep apnea in Prader-Willi syndrome, a retrospective review was performed of polysomnograms performed in children with Prader-Willi syndrome before onset of therapy and 6 weeks, 6 months, 1 year, and 2 years after starting growth hormone therapy. The results from Al-Saleh et al are published in this issue of The Journal, which show that 13 of 15 children did well with no adverse sleep outcomes. However, 2 of the 15 had growth hormone therapy discontinued because of the development of severe obstructive sleep apnea after 6 weeks. The au...
Source: The Journal of Pediatrics - January 14, 2013 Category: Pediatrics Authors: Robert W. Wilmott Tags: The Editors' Perspectives Source Type: research
Growth Hormone Therapy for Children and Adolescents with Prader-Willi Syndrome Is Associated with Improved Body Composition and Metabolic Status in Adulthood.
Conclusions:GH treatment in childhood and adolescence is associated with significantly decreased body mass index and improved body composition and metabolic status in adults with PWS at several years after discontinuing treatment. PMID: 23284006 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - January 2, 2013 Category: Endocrinology Authors: Coupaye M, Lorenzini F, Lloret-Linares C, Molinas C, Pinto G, Diene G, Mimoun E, Demeer G, Labrousse F, Jauregi J, Laurier V, Basdevant A, Polak M, Thuilleaux D, Tauber M, Poitou C Tags: J Clin Endocrinol Metab Source Type: research
Expressive and receptive language in Prader-Willi syndrome: Report on genetic subtype differences.
Abstract Prader-Willi syndrome (PWS), most recognized for the hallmark hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the q11-13 region of chromosome 15. Since the recognition of PWS as a genetic disorder, most research has focused primarily on the medical, genetic, and behavioral aspects of the syndrome. Extensive research has not been conducted on the cognitive, speech, and language abilities in PWS. In addition, language differences with regard to genetic mechanism of PWS have not been well investigated. To date, research indicates overall language a...
Source: Journal of Communication Disorders - December 21, 2012 Category: Speech Therapy Authors: Dimitropoulos A, Ferranti A, Lemler M Tags: J Commun Disord Source Type: research
In Children With Prader-Willi Syndrome, Adenotonsillectomy May Help Resolve Obstructive Sleep Apnea
Children with Prader-Willi syndrome may receive relief from sleep disorders after undergoing an adenotonsillectomy, suggests a new study from Nationwide Children's Hospital published in the November print issue of the Archives of Otolaryngology-Head and Neck Surgery. "Patients with Prader-Willi syndrome are at risk for sleep disordered breathing as growth hormone commonly used to treat their condition can cause the tonsils and adenoids to enlarge," said the study's lead author Kris Jatana, MD, FAAP, with Otolaryngology Head & Neck Surgery at Nationwide Children's... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - November 23, 2012 Category: Consumer Health News Tags: Ear, Nose and Throat Source Type: news
Adenotonsillectomy may help resolve obstructive sleep apnea in children with Prader-Willi syndrome
(Nationwide Children's Hospital) Children with Prader-Willi syndrome may receive relief from sleep disorders after undergoing an adenotonsillectomy, suggests a new study from Nationwide Children's Hospital published in the November print issue of the Archives of Otolaryngology-Head and Neck Surgery. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 20, 2012 Category: Global & Universal Source Type: news
Severe Tooth Wear in Prader-Willi SyndromeSevere Tooth Wear in Prader-Willi Syndrome
Tooth wear can be a serious problem in Prader-Willi syndrome, and young adults with this syndrome have a considerable need for prosthodontic rehabilitation. BMC Oral Health (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - November 19, 2012 Category: Consumer Health News Tags: Dental & Oral Health Journal Article Source Type: news
Looking At Prader-Willi Syndrome From A Different Angle
An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at the insatiable appetite experienced by all sufferers, as well as their very high risk of cardiovascular disease. The autonomic nervous system controls our inner organs, including our gut, heart, liver and blood vessels. It is a finely tuned, dynamic system, responding moment-by-moment to the body's needs... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - November 19, 2012 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news
A new way of looking at Prader-Willi Syndrome
(Research Australia) An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at the insatiable appetite experienced by all sufferers, as well as their very high risk of cardiovascular disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 15, 2012 Category: Global & Universal Source Type: news
Normal Insulin-Like Peptide-3 Levels Despite Low Testosterone in Adult Males with Prader-Willi Syndrome: Variations in Leydig Cell Function from Infancy through Adulthood.
Conclusions:Most PWS males have normal INSL3 levels. By contrast, testosterone levels after infancy are low. These findings suggest a specific defect in Leydig cell function. PMID: 23150680 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - November 12, 2012 Category: Endocrinology Authors: Hirsch HJ, Eldar-Geva T, Gross-Tsur V, Benarroch F, Roger M, Lahlou N Tags: J Clin Endocrinol Metab Source Type: research
Approach to the child with prader-willi syndrome.
PMID: 23129592 [PubMed - in process] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - November 1, 2012 Category: Endocrinology Authors: Miller JL Tags: J Clin Endocrinol Metab Source Type: research
Prader-Willi Syndrome Conference
Prader-Willi California Foundation will host our annual state conference to educate families raising someone diagnosed with Prader-Willi Syndrome, as well as the professionals who serve them. (Source: Disabled World)
Source: Disabled World - October 29, 2012 Category: Disability Tags: 2012 Events Source Type: news
Prader-Willi Syndrome and Growth Hormone Therapy: Take a Deep Breath and Weigh the Data
Prader-Willi syndrome (PWS), a complex neurogenetic disorder originally described in 1956, was relatively unknown outside genetics and developmental clinics until the late 1990s when growth hormone replacement therapy (GHRT) emerged as an effective intervention. The cardinal feature is the early onset, unrelenting, treatment-refractory hyperphagia leading to morbid obesity and attendant comorbidities. In addition, however, PWS is characterized by infantile hypotonia and failure to thrive, followed by short stature, hypogonadism, abnormal body composition, sleep and respiratory abnormalities (including impaired ventilatory ...
Source: The Journal of Pediatrics - October 29, 2012 Category: Pediatrics Authors: Barbara Y. Whitman, Susan E. Myers Tags: Editorials Source Type: research
Nocturnal Sleep Measured by Actigraphy in Children with Prader-Willi Syndrome
Conclusion: Children with PWS appear to have a shorter SL but more time awake in the night than normal children and have similar TST and morning wake time compared with controls. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - October 29, 2012 Category: Pediatrics Authors: Shiree Gibbs, Esko Wiltshire, Dawn Elder Tags: Original Articles Source Type: research
Long Noncoding RNAs as Sinks in Prader-Willi Syndrome
Kathleen L. McCann, Susan J. Baserga. In this issue of Molecular Cell, Yin et al. (2012) identify a class of long noncoding RNAs (lncRNAs) and propose a new mechanism as to how they contribute to the pathogenesis of Prader-Willi syndrome. (Source: Molecular Cell)
Source: Molecular Cell - October 25, 2012 Category: Cytology Source Type: research
Consultant in paediatric endocrinology and diabetes, Birmingham Children?s Hospital, UK
This is a new NHS consultant post undertaking 10 PA’s per week. The post holder will join a progressive and highly research-active team delivering paediatric diabetes and endocrinology services within Birmingham, the West Midlands and beyond, with lead responsibility within the diabetes service. The post is funded following the introduction of the national Best Practice Tariff enabling expansion of the Multi Disciplinary Diabetes Team. This is a full-time post mainly designed to provide intensified diabetes management for children with type 1 diabetes, with increased consultant-lead care, and designated insulin pum...
Source: Society for Endocrinology - October 23, 2012 Category: Endocrinology Source Type: news
What Causes Scoliosis?
Discussion Alignment of the spine is measured from a plumbline dropped from C7 vertebrae as the line of reference. Lordosis is anterior curving, kyphosis is posterior curving and scoliosis is lateral curving relative to this line. Scoliosis has a large differential diagnosis with neuromuscular and spinal abnormalities being the most common as groups. Adolescent idiopathic scoliosis is the most common type of idiopathic scoliosis and the most common type of scoliosis (as a distinct entity) overall. By mid- to late- adolescence, 2-3% will have a 10-degree angle or more. The Cobb angle measures the degree of curvature and its...
Source: PediatricEducation.org - October 7, 2012 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news
Risk for ingestion of toxic substances in children with Prader-Willi syndrome - McCandless SE, Powell KP, Sandberg U.
This study examined whether individuals with PWS have an increased prevalence of toxic ingestions. A survey regarding... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - September 21, 2012 Category: Global & Universal Tags: Age: Infants and Children Source Type: news
2nd International Conference on Hyperphagia – 26th Annual PWSA (USA)...
The international conferences will feature top scientists in the field of appetite and obesity research, announces the Prader-Willi Syndrome Association (USA) and Pennington Biomedical Research...(PRWeb September 14, 2012)Read the full story at http://www.prweb.com/releases/2012/9/prweb9893861.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - September 14, 2012 Category: Pharmaceuticals Source Type: news
POI: A Score to Modulate GH Treatment in Children with Prader-Willi Syndrome
Horm Res Paediatr (DOI:10.1159/000342649) (Source: Karger Publishers)
Source: Karger Publishers - September 10, 2012 Category: Cancer & Oncology Source Type: research
Longitudinal Evaluation of Sleep-Disordered Breathing in Children with Prader-Willi Syndrome during 2 Years of Growth Hormone Therapy
Conclusion: In young children with PWS with known SRDB at baseline, the first few weeks after initiation of GH therapy may represent a vulnerable time for the development of significant SRDB. However, most children with PWS did not show significant changes in SRDB after 2 years of GH therapy. We conclude that long-term GH therapy appears to be safe after an initial period of increased risk in the context of SRDB in children with PWS. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - September 3, 2012 Category: Pediatrics Authors: Suhail Al-Saleh, Amal Al-Naimi, Jill Hamilton, Allison Zweerink, Andrea Iaboni, Indra Narang Tags: Original Articles Source Type: research
Necdin, a p53 target gene, regulates the quiescence and response to genotoxic stress of hematopoietic stem/progenitor cells
We recently defined a critical role for p53 in regulating the quiescence of adult hematopoietic stem cells (HSCs) and identified necdin as a candidate p53 target gene. Necdin is a growth-suppressing protein and the gene encoding it is one of several that are deleted in patients with Prader-Willi syndrome. To define the intrinsic role of necdin in adult hematopoiesis, in the present study, we transplanted necdin-null fetal liver cells into lethally irradiated recipients. We show that necdin-null adult HSCs are less quiescent and more proliferative than normal HSCs, demonstrating the similar role of necdin and p53 in promoti...
Source: Blood - August 23, 2012 Category: Hematology Authors: Asai, T., Liu, Y., Di Giandomenico, S., Bae, N., Ndiaye-Lobry, D., Deblasio, A., Menendez, S., Antipin, Y., Reva, B., Wevrick, R., Nimer, S. D. Tags: Hematopoiesis and Stem Cells Source Type: research
Ghrelin: The Differences between Acyl- and Des-acyl Ghrelin.
Abstract Des-acyl ghrelin (DAG) is one of three preproghrelin gene-encoded peptides. Compared with ghrelin and obestatin, it has not received the attention it deserves. DAG has long been considered an inert degradation product of acylated ghrelin (AG). Recent evidence, however, indicates that DAG behaves like a separate hormone. DAG can act together with AG, can antagonize AG and seems to have AG-independent effects. Therefore, it is believed that DAG must activate its own receptor, and that it may also interact with AG at this receptor.Of potential clinical importance is that an increasing number of studies sugges...
Source: European Journal of Endocrinology - August 16, 2012 Category: Endocrinology Authors: Delhanty PJ, Neggers SJ, Van der Lely AJ Tags: Eur J Endocrinol Source Type: research
The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs
The imprinted Snurf–Snrpn chromosomal domain contains two large arrays of tandemly repeated, paternally expressed box C/D small-nucleolar RNA (snoRNA) genes: the SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters believed to play key roles in the fine-tuning of serotonin receptor (5-HT2C) pre-mRNA processing and in the etiology of the Prader–Willi Syndrome (PWS), respectively. SNORD115 and SNORD116 were recently proposed to undergo significant conversion into shorter RNA species, the so-called psnoRNAs. Here, we provide evidence that argues against the existence of abundant psnoRNAs in human or mouse b...
Source: Nucleic Acids Research - August 6, 2012 Category: Research Authors: Bortolin-Cavaille, M.-L., Cavaille, J. Tags: RNA Source Type: research
Mental health problems in children with prader-willi syndrome.
CONCLUSIONS: PWS represents a complex psychological disorder with multiple areas of disturbances. PMID: 22876265 [PubMed - in process] (Source: Journal of the Canadian Academy of Child and Adolescent Psychiatry)
Source: Journal of the Canadian Academy of Child and Adolescent Psychiatry - August 1, 2012 Category: Psychiatry Authors: Skokauskas N, Sweeny E, Meehan J, Gallagher L Tags: J Can Acad Child Adolesc Psychiatry Source Type: research
Laparoscopic sleeve gastrectomy in Chinese female patient with Prader-Willi syndrome and diabetes.
PMID: 22951076 [PubMed - as supplied by publisher] (Source: Surgery for Obesity and Related Diseases : official journal of the American Society for Bariatric Surgery)
Source: Surgery for Obesity and Related Diseases : official journal of the American Society for Bariatric Surgery - August 1, 2012 Category: Surgery Authors: Yu H, Di J, Jia W Tags: Surg Obes Relat Dis Source Type: research
Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.
We report a boy with an additional Xq27-qter chromosome segment translocated onto the short arm of chromosome 3. The karyotype was 46,XY,der(3)t(X;3)(q27.3; p26.3)mat. This cryptic unbalanced X-autosome translocation resulted in Xq27-qter functional disomy and a deletion 3p26.3. A detailed analysis of the constitutional chromosomal changes in the patient was performed using array-CGH, FISH and PCR. The aim was to characterize the size and the location of the duplication Xq27-qter (8.18 Mb) and of the deletion 3p26.3 (1.05 Mb), to establish phenotype-genotype correlations and to offer genetic counselling. PMID: 226834...
Source: European Journal of Medical Genetics - July 29, 2012 Category: Genetics & Stem Cells Authors: Ben-Abdallah-Bouhjar I, Hannachi H, Labalme A, Gmidène A, Mougou S, Soyah N, Gribaa M, Sanlaville D, Elghezal H, Saad A Tags: Eur J Med Genet Source Type: research
Stress, Locus of Control, and Family Cohesion and Adaptability in Parents of Children with Down, Williams, Fragile X, and Prader-Willi Syndromes
American Journal on Intellectual and Developmental Disabilities, Volume 117, Issue 3, Page 207-224, May 2012. (Source: American Journal on Intellectual and Developmental Disabilities)
Source: American Journal on Intellectual and Developmental Disabilities - June 20, 2012 Category: Disability Tags: article Source Type: research
Childhood Subdural Hemorrhage, Macrocephaly, and Coagulopathy Associated With Prader-Willi Syndrome: Case Report and Review of the Literature
Abstract: A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of nonaccidental trauma became apparent. Subdural hemorrhages of varying ages are frequently associated with nonaccidental trauma during early childhood. However, several uncommon conditions may present as subdural hemorrhages and thus mimic nonaccidental trauma. Our patient demonstrates a combination of P...
Source: Pediatric Neurology - June 20, 2012 Category: Neurology Authors: Robert B. Carr, Paritosh C. Khanna, Russell P. Saneto Tags: Case Reports Source Type: research
Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome.
Abstract The hypothalamus is integral to the regulation of body homeostasis, including food intake, energy balance, and blood pressure. Dysfunction of the hypothalamus has been associated with a broad range of disorders; many of which are sex-dependent in prevalence. Small nucleolar (sno) RNAs are a group of small RNAs located in nucleoli that modulate chemical modifications and maturation of ribosomal or other RNAs. Recent data suggest that snoRNA Snord116 is important for the pathogenesis of Prader-Willi syndrome (PWS) characterized by hyperphagia and obesity. The current study was conducted to assess a potential...
Source: International Journal of Developmental Neuroscience - June 1, 2012 Category: Neuroscience Authors: Zhang Q, Bouma GJ, McClellan K, Tobet S Tags: Int J Dev Neurosci Source Type: research
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
Abstract Recent studies have identified PRDM9, a zinc finger (ZF) protein, as a key regulator of meiotic recombination. As both recurrent genomic disorders and chromosomal non-disjunction are known to be associated with specific unusual patterns of recombination, we hypothesized a possible link between PRDM9 ZF variation and susceptibility to microdeletion syndromes and/or trisomy. We sequenced the PRDM9 ZF domain in 271 parents of patients with de novo microdeletions of known parental origin (velocardiofacial syndrome, the 17q21.31 microdeletion syndrome, Prader-Willi/Angelman syndrome and Williams-Beuren sy...
Source: Human Genetics - May 30, 2012 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: research
Enhanced appetitive learning and reversal learning in a mouse model for Prader-Willi syndrome.
Prader-Willi syndrome (PWS) is caused by lack of paternally derived gene expression from the imprinted gene cluster on human chromosome 15q11-q13. PWS is characterized by severe hypotonia, a failure to thrive in infancy and, on emerging from infancy, evidence of learning disabilities and overeating behavior due to an abnormal satiety response and increased motivation by food. We have previously shown that an imprinting center deletion mouse model (PWS-IC) is quicker to acquire a preference for, and consume more of a palatable food. Here we examined how the use of this palatable food as a reinforcer influences learning in P...
Source: Behavioral Neuroscience - May 28, 2012 Category: Neuroscience Authors: Relkovic, Dinko; Humby, Trevor; Hagan, Jim J.; Wilkinson, Lawrence S.; Isles, Anthony R. Source Type: research
Severe tooth wear in Prader-Willi syndrome. A case-control study.
Background: Prader-Willi syndrome (PWS) is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with Prader-Willi syndrome. Methods: Forty-nine individuals (6-40 years) with PWS and an age- and sex-matched control group were included. Tooth wear was evaluated from dental casts and intraoral photographs and rated by four examiners us...
Source: BMC Oral Health - Latest articles - May 28, 2012 Category: Dentistry Authors: Ronnaug SaevesIvar EspelidKari StorhaugLeiv SandvikHilde Nordgarden Source Type: research
GH Increases Insulin Resistance in Prader-Willi SyndromeGH Increases Insulin Resistance in Prader-Willi Syndrome
Even in normal-weight patients with Prader-Willi syndrome, the use of growth hormone (GH) increases the risk for insulin resistance. Medscape Medical News (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - May 22, 2012 Category: Consumer Health News Tags: Diabetes & Endocrinology News Source Type: news
Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder.
Abstract Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has only more recently been systematically examined. Findings to date indicate the social impairment exhibited may reflect specific difficulty interpreting and using social information effectively. In addition, evidence suggests that there is an increased risk of social...
Source: Journal of Autism and Developmental Disorders - May 11, 2012 Category: Psychiatry Authors: Dimitropoulos A, Ho A, Feldman B Tags: J Autism Dev Disord Source Type: research
Activation of PEGs by PWS-IC in the PWS/AS domain [Genetics]
The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprinted domain is regulated by a bipartite imprinting control center (IC) composed of a sequence around the SNRPN promoter (PWS-IC) and a 880-bp sequence located 35 kb upstream (AS-IC). The AS-IC imprint is established during gametogenesis and confers repression upon PWS-IC on the maternal allele. Mutation at PWS-IC on the paternal allele leads to gene silencing across the entire PWS/AS domain. This silencing implies that PWS-IC functions on the paternal allele as a bidirectional activator. Here we examine the mechanism by which PWS-IC activates the paternally expresse...
Source: Proceedings of the National Academy of Sciences - May 8, 2012 Category: Science Authors: Rabinovitz, S., Kaufman, Y., Ludwig, G., Razin, A., Shemer, R. Tags: Biological Sciences Source Type: research