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REFERENCE LINKING PLATFORM OF KOREA S&T JOURNALS
> Journal Vol & Issue
Journal of mucopolysaccharidosis and rare disease
Journal Basic Information
Journal DOI :
Association for Research of MPS and Rare Diseases
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Volume & Issues
Volume 1, Issue 2 - Dec 2015
Volume 1, Issue 1 - Jun 2015
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How to Understand Sleep and Sleep Problems in Patients with Prader-Willi Syndrome?
Joo, Eun Yeon ;
Journal of mucopolysaccharidosis and rare disease, volume 1, issue 2, 2015, Pages 35~39
DOI : 10.19125/jmrd.2015.1.2.35
Sleep problems occur frequently among patients with Prader-Willi syndrome (PWS). The most common problem is excessive daytime sleepiness (EDS) that are closely related to of sleep-related breathing disorder (SRBD) such as obstructive sleep apnea (OSA) and congenital hypoventilation syndrome. Obesity, craniofacial dysmorphism and muscular hypotonia of patients with PWS may increase the risk of SRBD. Sleep apneas can interrupt the continuity of sleep, and these disruptions result in a decrease in both the quality and quantity of sleep. In addition to SRBD, other sleep disorders have been reported, such as hypersomnia, a primary abnormality of the rapid eye movement (REM) sleep and narcolepsy traits at sleep onset REM sleep. Patients with PWS have intrinsic abnormalities of sleep-wake cycles due to hypothalamic dysfunction. The treatment of EDS and other sleep disorders in PWS are similar to standard treatments. Correction of sleep hygiene such as sufficient amount of sleep, maintenance of regular sleep-wake rhythm, and planned naps are important. After comprehensive evaluation of sleep disturbances, CPAP or surgery should be recommended for treatment of SRBD. Remaining EDS or narcolepsy-like syndrome are controlled by stimulant medication. Bright light therapy might be beneficial for disturbed circadian sleep-wake rhythm caused by hypothalamic dysfunction.
Issues in Adults Prader-Willi Syndrome
Park, Sung Won ;
Journal of mucopolysaccharidosis and rare disease, volume 1, issue 2, 2015, Pages 40~43
DOI : 10.19125/jmrd.2015.1.2.40
Prader-Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11-q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle. The life expectancy of persons with PWS has increased in recent years. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems are common physical complaints in older people with PWS. Behavioral problems are major concerns in adults with PWS into old age. And aging is also associated with significant social and economic changes. Age-related physical morbidity, physical appearance, behavioral and psychiatric problems, functional decline and economic problems can be combined in older PWS. The care for older people with PWS requires a life span approach that recognizes the presence, progression, and consequences of specific morbidity.
Obesity and Metabolic Syndrome in Adults with Prader-Willi Syndrome
Kim, Su Jin ;
Journal of mucopolysaccharidosis and rare disease, volume 1, issue 2, 2015, Pages 44~48
DOI : 10.19125/jmrd.2015.1.2.44
Body fat distribution in patients with Prader-Willi syndrome (PWS) is characterized by reduce lean body mass (LBM), increased total body fat mass (FM), and lower percentage of visceral adipose tissue (VAT). Individuals with PWS seem to have a lower risk for insulin resistance with high levels of adiponectin, an anti-atherogenic adipocytokine that is decreased in visceral fat hypertrophy subjects compared to simple obese subjects, both in children and in adults. The mechanism of the reduction in visceral adiposity in PWS is still unclear. It might be related to qualitative intrinsic characteristics of adipocyte or novel genetic influences on the control of fat distribution. However, obesity remains a critical problem, and obesity status plays a crucial role in individual metabolic risk clustering and development of metabolic syndrome (Mets) in PWS children and adults. Long-term growth hormone (GH) treatment after cessation of skeletal growth improved body composition, with an increase in lean body mass and a reduction in total body fat and subcutaneous and visceral fat in PWS adults. Thus, the role of GH is important after childhood because it might attenuate obesity and Mets in PWS adult by adipocyte modification.
Growth Hormone Therapy in Adults with Prader-Willi Syndrome
Cho, Sung Yoon ;
Journal of mucopolysaccharidosis and rare disease, volume 1, issue 2, 2015, Pages 49~53
DOI : 10.19125/jmrd.2015.1.2.49
Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. Many features of PWS indicate a deficiency in growth hormone (GH) production, and these findings provide a rationale for GH therapy in PWS. It is possible that rhGH therapy could have beneficial effects in adults with PWS, similar to those in adults with GH deficiency (GHD) of non-syndromic cause. However, there is a paucity of data on the use of GH in adults with PWS. Here, the previous studies about efficacy and safety of rhGH therapy in PWS adults are summarized. Briefly, rhGH therapy in PWS adults may improve body composition, leading to increased lean body mass and decreased fat mass, as well as decreased subcutaneous and visceral adiposity without overall changes in body mass index. There may be at least transient deterioration in glucose homoeostasis in some PWS patients on rhGH therapy, which requires further study. In addition, clinical care guidelines for rhGH therapy in adults with PWS were suggested.
The Effect of Growth Hormone on mRNA Expression of the GABA
Receptor Subunit and GH/IGF Axis Genes in a Mouse Model of Prader-Willi Syndrome
Lee, Jin Young ; Jin, Dong-Kyu ;
Journal of mucopolysaccharidosis and rare disease, volume 1, issue 2, 2015, Pages 54~59
DOI : 10.19125/jmrd.2015.1.2.54
Purpose: Growth hormone (GH) therapy substantially improves several cognitive functions in PWS. However, the molecular mechanisms underlying the beneficial effects of GH on cognition remain unclear in PWS. In this study, we investigated the effects of recombinant human GH on the gene expression of GABAB receptor subunits and GH/insulin-like growth factor (IGF) axis genes in the brain regions of PWS-mimicking mice (Snord116del). Methods: Snord116del mice were injected subcutaneously with 1.0 mg/kg GH or saline, once daily for 7 days. The collected brain tissues were analyzed for mRNA content using quantitative PCR (qPCR) in the cerebellum, hippocampus, and cerebral cortex. Results: GH increased the mRNA expression level of the
receptor subunit (
) and IGF-1R in the cerebellum. Furthermore, a significant positive correlation was found between the level of
mRNA and the expression of the IGF-1R transcript. GH also induced an increase in the mRNA expression of IGF-2 and IGF-2R in the cerebellum. Conclusion: These data indicate that GH may provide beneficial effects on cognitive function through its influences on the expression of
and GH/IGF-1 axis genes in PWS patients.
Quality of Life in Prader-Willi Syndrome Patients
Kim, Jinsup ; Cho, Sung Yoon ; Jin, Dong-Kyu ;
Journal of mucopolysaccharidosis and rare disease, volume 1, issue 2, 2015, Pages 60~61
DOI : 10.19125/jmrd.2015.1.2.60