Database : MEDLINE
Search on : Prader-Willi and Syndrome [Words]
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[PMID]: 29376891
[Au] Autor:Rodriguez JA; Zigman JM
[Ad] Address:Division of Hypothalamic Research, Department of Internal Medicine.
[Ti] Title:Hypothalamic loss of Snord116 and Prader-Willi syndrome hyperphagia: the buck stops here?
[So] Source:J Clin Invest;128(3):900-902, 2018 Mar 01.
[Is] ISSN:1558-8238
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hyperphagia and obesity are the best-known manifestations of Prader-Willi syndrome (PWS) and are responsible for most of the overall morbidity and mortality associated with the disease. Yet these PWS symptoms remain poorly understood and without effective pharmacologic therapies. Mouse models attempting to recapitulate both the genetic alterations and marked hyperphagia plus obesity of PWS have been enigmatic, leading to skepticism about the use of mouse models to investigate PWS. In this issue of the JCI, Polex-Wolf and colleagues challenge the skeptics by successfully inducing hyperphagia following bilateral mediobasal hypothalamic deletion of the Snord116 gene from adult mice. Obesity also resulted, although only in a subset of mice. While this approach represents an exciting advance, highlighting a pathologic effect of loss of mediobasal hypothalamic Snord116 expression on the development of PWS's hallmark symptoms, the variability in the body-weight and body composition responses to this site-selective gene deletion raises several questions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review

  2 / 3310 MEDLINE  
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[PMID]: 29376887
[Au] Autor:Polex-Wolf J; Lam BY; Larder R; Tadross J; Rimmington D; Bosch F; Cenzano VJ; Ayuso E; Ma MK; Rainbow K; Coll AP; O'Rahilly S; Yeo GS
[Ad] Address:Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom.
[Ti] Title:Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome.
[So] Source:J Clin Invest;128(3):960-969, 2018 Mar 01.
[Is] ISSN:1558-8238
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Profound hyperphagia is a major disabling feature of Prader-Willi syndrome (PWS). Characterization of the mechanisms that underlie PWS-associated hyperphagia has been slowed by the paucity of animal models with increased food intake or obesity. Mice with a microdeletion encompassing the Snord116 cluster of noncoding RNAs encoded within the Prader-Willi minimal deletion critical region have previously been reported to show growth retardation and hyperphagia. Here, consistent with previous reports, we observed growth retardation in Snord116+/-P mice with a congenital paternal Snord116 deletion. However, these mice neither displayed increased food intake nor had reduced hypothalamic expression of the proprotein convertase 1 gene PCSK1 or its upstream regulator NHLH2, which have recently been suggested to be key mediators of PWS pathogenesis. Specifically, we disrupted Snord116 expression in the mediobasal hypothalamus in Snord116fl mice via bilateral stereotaxic injections of a Cre-expressing adeno-associated virus (AAV). While the Cre-injected mice had no change in measured energy expenditure, they became hyperphagic between 9 and 10 weeks after injection, with a subset of animals developing marked obesity. In conclusion, we show that selective disruption of Snord116 expression in the mediobasal hypothalamus models the hyperphagia of PWS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review

  3 / 3310 MEDLINE  
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[PMID]: 29294134
[Au] Autor:Ghergan A; Coupaye M; Leu-Semenescu S; Attali V; Oppert JM; Arnulf I; Poitou C; Redolfi S
[Ad] Address:Assistance Publique-Hôpitaux de Paris (AP-HP), Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Service de Pathologies du Sommeil (Département R3S) et Centre de Référence National pour Narcolepsie, Hypersomnie et Syndrome de Kleine-Levin, Paris, France.
[Ti] Title:Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome.
[So] Source:Sleep;40(12), 2017 Dec 01.
[Is] ISSN:1550-9109
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Study Objectives: Excessive sleepiness is a common symptom in Prader-Willi syndrome (PWS), and it negatively impacts the quality of life. Obstructive sleep apnea and narcolepsy phenotypes have been reported in PWS. We characterized sleep disorders in a large cohort of adults with PWS. Methods: All consecutive patients with genetically confirmed PWS unselected for sleep-related symptoms, underwent a clinical interview, polysomnography, and multiple sleep latency tests (MSLT, n = 60), followed by long-term (24 hours) polysomnography (n = 22/60). Results: Among 60 adults evaluated (57% female, aged 25 ± 10 years, body mass index: 39 ± 12 kg/m2), 67% reported excessive sleepiness. According to the sleep study results, 43% had a previously unrecognized hypersomnia disorder, 15% had an isolated sleep breathing disorder, 12% had combined hypersomnia disorder and untreated breathing sleep disorder, and only 30% had normal sleep. Isolated hypersomnia disorder included narcolepsy in 35% (type 1, n = 1, and type 2, n = 8), hypersomnia in 12% (total sleep time >11 hours, n = 2, and MSLT <8 minutes, n = 1), and borderline phenotype in 53% (≥2 sleep onset in REM periods and MSLT >8 minutes, n = 10, and 8 minutes < MSLT < 10 minutes, n = 4). Sleep breathing disorders, isolated and combined, included obstructive sleep apnea (n = 14, already treated in seven), sleep hypoxemia (n = 1) and previously undiagnosed hypoventilation (n = 5). Modafinil was taken by 16 patients (well tolerated in 10), resulting in improved sleepiness over a mean 5-year follow-up period. Conclusion: Sleepiness affects more than half of adult patients with PWS, with a variety of hypersomnia disorder (narcolepsy, hypersomnia, and borderline phenotypes) and breathing sleep disorders. Earlier diagnosis and management of sleep disorders may improve sleepiness, cognition, and behavior in these patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1093/sleep/zsx162

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[PMID]: 29294017
[Au] Autor:Kodra Y; Minelli G; Rocchetti A; Manno V; Carinci A; Conti S; Taruscio D; National Rare Diseases Registry Collaborating Group
[Ad] Address:National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
[Ti] Title:The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data.
[So] Source:J Public Health (Oxf);, 2017 Dec 27.
[Is] ISSN:1741-3850
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Background: Italy has been the first country at European level to implement a population-based public health registry dedicated to rare diseases. This study describes the current situation of the Italian National Rare Diseases Registry (NRDR) and compares its data with those from the National Hospital Discharge Database (HDD). Methods: Three rare diseases were analysed: Huntington disease (HD), Hereditary Haemorragic Telangiectasia (HHT) and Prader-Willi Syndrome (PWS), selected for their different characteristics. The two sources (NRDR and HDD) were linked: incidence rate ratio (IRR), sensitivity and predictive positive value (PPV) were calculated. Results: Incidence rates from NRDR and from HDD were compared by age groups, and IRR calculated: 1.08 for HD, 1.41 for HHT, 1.21 for PSW. For HD, sensitivity was 0.52 and PPV 0.48; for HHT sensitivity was 0.71 and PPV 0.52; for PWS the sensitivity was 0.71 and PPV 0.58. We found a strong regional variability in the results. Conclusions: The integrated use of the two sources helps tracking those cases that are not captured by the Registry; further, it is a precious tool to accurately describe clinical histories of rare disease affected individuals, in terms of concomitant pathologies and medical procedures performed during hospitalization.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/pubmed/fdx176

  5 / 3310 MEDLINE  
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[PMID]: 29510967
[Au] Autor:Moix Gil E; Giménez-Palop O; Caixàs A
[Ad] Address:Facultad de Medicina, Unidad Docente Parc Taulí, Universitat Autònoma de Barcelona, Barcelona, España.
[Ti] Title:Tratamiento con hormona de crecimiento en el síndrome de Prader-Willi. Treatment with growth hormone in the prader-willi syndrome.
[So] Source:Endocrinol Diabetes Nutr;, 2018 Mar 03.
[Is] ISSN:2530-0172
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract:INTRODUCTION: The Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in región 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients. OBJECTIVE: To review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults. DESIGN: A review was made of 62 original articles published between 2000 and 2017 using the PubMed database. RESULTS: In pediatric and adult PWS, rGH improves body morphology and composition, physical performance, cognition, psychomotor development, respiratory function, and quality of life with few adverse effects. CONCLUSIONS: Treatment with rGH is effective and safe and improves quality of life in both children and adults with PWS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher

  6 / 3310 MEDLINE  
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[PMID]: 29194524
[Au] Autor:Zhu C; Miller M; Marpaka S; Vaysberg P; Rühlemann MC; Wu G; Heinsen FA; Tempel M; Zhao L; Lieb W; Franke A; Bromberg Y
[Ad] Address:Department of Biochemistry and Microbiology, Rutgers University, 76 Lipman Dr, New Brunswick, NJ 08873, USA.
[Ti] Title:Functional sequencing read annotation for high precision microbiome analysis.
[So] Source:Nucleic Acids Res;46(4):e23, 2018 Feb 28.
[Is] ISSN:1362-4962
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The vast majority of microorganisms on Earth reside in often-inseparable environment-specific communities-microbiomes. Meta-genomic/-transcriptomic sequencing could reveal the otherwise inaccessible functionality of microbiomes. However, existing analytical approaches focus on attributing sequencing reads to known genes/genomes, often failing to make maximal use of available data. We created faser (functional annotation of sequencing reads), an algorithm that is optimized to map reads to molecular functions encoded by the read-correspondent genes. The mi-faser microbiome analysis pipeline, combining faser with our manually curated reference database of protein functions, accurately annotates microbiome molecular functionality. mi-faser's minutes-per-microbiome processing speed is significantly faster than that of other methods, allowing for large scale comparisons. Microbiome function vectors can be compared between different conditions to highlight environment-specific and/or time-dependent changes in functionality. Here, we identified previously unseen oil degradation-specific functions in BP oil-spill data, as well as functional signatures of individual-specific gut microbiome responses to a dietary intervention in children with Prader-Willi syndrome. Our method also revealed variability in Crohn's Disease patient microbiomes and clearly distinguished them from those of related healthy individuals. Our analysis highlighted the microbiome role in CD pathogenicity, demonstrating enrichment of patient microbiomes in functions that promote inflammation and that help bacteria survive it.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1093/nar/gkx1209

  7 / 3310 MEDLINE  
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[PMID]: 29506955
[Au] Autor:Bischof JM; Wevrick R
[Ad] Address:Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. Electronic address: jbischof@ualberta.ca.
[Ti] Title:Chronic diazoxide treatment decreases fat mass and improves endurance capacity in an obese mouse model of Prader-Willi syndrome.
[So] Source:Mol Genet Metab;, 2018 Feb 27.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Excess fat mass is a cardinal feature of Prader-Willi syndrome (PWS) that is recapitulated in the Magel2-null mouse model of this genetic disorder. There is a pressing need for drugs that can prevent or treat obesity in children with PWS. Recently, a clinical study of a controlled release form of the benzothiadiazine derivative diazoxide demonstrated improved metabolic parameters and decreased fat mass in obese children and adults with PWS. We tested whether chronic diazoxide administration can reduce fat mass and improve metabolism in mice lacking MAGEL2, a gene inactivated in PWS. Magel2-null and wild-type control mice were rendered obese by high fat diet feeding, then provided diazoxide while being maintained on a high fat diet. Treatment of obese mice with diazoxide reduced weight and body fat, lowered blood glucose and improved endurance capacity. Treatment with diazoxide partially normalizes obesity in children and adults with PWS and in a PWS mouse model, demonstrating that the biological pathways impacted by diazoxide may be rational pharmacological targets in PWS and other disorders diseases associated with obesity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher

  8 / 3310 MEDLINE  
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[PMID]: 29496979
[Au] Autor:McCarthy JM; McCann-Crosby BM; Rech ME; Yin J; Chen CA; Ali MA; Nguyen HN; Miller JL; Schaaf CP
[Ad] Address:Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA.
[Ti] Title:Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.
[So] Source:J Med Genet;, 2018 Mar 01.
[Is] ISSN:1468-6244
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature. Scoliosis and growth hormone insufficiency are also prevalent in PWS.There is extensive documentation of the endocrine and metabolic phenotypes for PWS, but not for SYS. This study served to investigate the hormonal, metabolic and body composition phenotype of SYS and its potential overlap with PWS. METHODS: In nine individuals with SYS (5 female/4 male; aged 5-17 years), we measured serum ghrelin, glucose, insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein 3, follicle-stimulating hormone, luteinising hormone, thyroid-stimulating hormone, free T4, uric acid and testosterone, and performed a comprehensive lipid panel. Patients also underwent X-ray and dual-energy X-ray absorptiometry analyses to assess for scoliosis and bone mineral density. RESULTS: Low IGF-1 levels despite normal weight/adequate nutrition were observed in six patients, suggesting growth hormone deficiency similar to PWS. Fasting ghrelin levels were elevated, as seen in individuals with PWS. X-rays revealed scoliosis >10° in three patients, and abnormal bone mineral density in six patients, indicated by Z-scores of below -2 SDs. CONCLUSION: This is the first analysis of the hormonal, metabolic and body composition phenotype of SYS. Our findings suggest that there is marked, but not complete overlap between PWS and SYS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher

  9 / 3310 MEDLINE  
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[PMID]: 29491038
[Au] Autor:Burkey BF; Hoglen NC; Inskeep P; Wyman M; Hughes TE; Vath JE
[Ad] Address:Zafgen, Inc.; bburkey@zafgen.com.
[Ti] Title:Preclinical Efficacy and Safety of the Novel Anti-diabetic, Anti-obesity MetAP2 Inhibitor, ZGN-1061.
[So] Source:J Pharmacol Exp Ther;, 2018 Feb 28.
[Is] ISSN:1521-0103
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Methionine aminopeptidase 2 (MetAP2) inhibition is a promising approach to treating diabetes, obesity, and associated metabolic disorders. Beloranib, a MetAP2 inhibitor previously investigated for treatment of Prader-Willi syndrome, was associated with venous thrombotic adverse events likely resulting from drug effects on vascular endothelial cells (ECs). Here, we report the pharmacological characterization of ZGN-1061, a novel MetAP2 inhibitor being investigated for treatment of diabetes and obesity. Four weeks of subcutaneous administration of ZGN-1061 to diet-induced obese (DIO) insulin-resistant mice produced a 25% reduction in body weight, primarily due to reduced fat mass, that was comparable to beloranib. ZGN-1061 also produced improvements in metabolic parameters, including plasma glucose and insulin, and, in HepG2 cells, initiated gene changes similar to beloranib that support observed in vivo pharmacodynamics. In vitro studies in ECs demonstrated that ZGN-1061 effects on EC proliferation and coagulation proteins were greatly attenuated, or absent, relative to beloranib, due to lower intracellular drug concentrations, shorter half-life of inhibitor-bound MetAP2 complex, and reduced cellular enzyme inhibition. In dogs, ZGN-1061 was more rapidly absorbed and cleared, with a shorter half-life than beloranib. Unlike beloranib, ZGN-1061 did not increase coagulation markers in dogs and ZGN-1061 had a greatly improved safety profile in rats relative to beloranib. In conclusion, ZGN-1061 and beloranib demonstrated similar efficacy in a mouse model of obesity while ZGN-1061 had a markedly improved safety profile in multiple in vitro and in vivo models. The lower duration of exposure characteristic of ZGN-1061 is expected to provide a meaningfully enhanced clinical safety profile.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher

  10 / 3310 MEDLINE  
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[PMID]: 29425059
[Au] Autor:Ehrhart F; Janssen KJM; Coort SL; Evelo CT; Curfs LMG
[Ad] Address:a GCK , Maastricht University Medical Centre , Maastricht , The Netherlands.
[Ti] Title:Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders.
[So] Source:World J Biol Psychiatry;:1-13, 2018 Mar 01.
[Is] ISSN:1814-1412
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two syndromes that are caused by the same chromosomal deletion on 15q11.2-q13. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Patients of both disorders exhibit hypotonia in neonatal stage, delay in development and hypopigmentation. Typical features for PWS include hyperphagia, which leads to obesity, the major cause of mortality, and hypogonadism. In AS, patients suffer from a more severe developmental delay, they have a distinctive behaviour that is often described as unnaturally happy, and a tendency for epileptic seizures. For both syndromes, we identified and visualised molecular downstream pathways of the deleted genes that could give insight on the development of the clinical features. METHODS: This was done by consulting literature, genome browsers and pathway databases to identify molecular interactions and to construct downstream pathways. RESULTS: A pathway visualisation was created and uploaded to the open pathway database WikiPathways covering all molecular pathways that were found. CONCLUSIONS: The visualisation of the downstream pathways of PWS- and AS-deleted genes shows that some of the typical symptoms are caused by multiple genes and reveals critical gaps in the current knowledge.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1080/15622975.2018.1439594


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