• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.2
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• pp.44-48
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• 2015

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.

• Clinical and Experimental Pediatrics
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• v.57 no.7
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• pp.310-316
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• 2014

Purpose: Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment. Methods: The clinical characteristics and the results of the GH treatment were reviewed retrospectively for 30 PWS patients diagnosed by molecular genetic testing and clinical manifestations. Results: The mean age at diagnosis with PWS was 13.7 months (2-47 months of age). All patients showed the characteristics of facial dysmorphism, including brown hair and almond-shaped eyes. Most patients showed developmental delays/mental retardation (93.3%), cryptorchidism (75%), feeding problems in infancy (73.3%), and neonatal or infantile hypotonia (66.7%). Among 30 patients, 14 PWS infants and toddlers had been treated with GH for more than two years. Two years of GH treatment resulted in an improvement in head circumference-standard deviation score (HC-SDS), body weight-SDS, insulin-like growth factor-1 (IGF-1) SDS, IGF binding protein-3 (IGFBP-3) SDS, lean body mass, and bone mineral content, especially in IGFBP-3 SDS and motor development in PWS patients younger than two years of age. There was significant increase in IGF-1 SDS and IGFBP-3 SDS among male PWS patients after GH treatment. Conclusion: Our study showed increases in IGFBP-3 SDS and an improvement in motor development among individuals under two years of age after GH treatment, and significant difference in IGF-1 SDS and IGFBP-3 SDS by gender.

• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.35-38
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• 2022

Background: Prader-Willi syndrome (PWS) is a complex genetic disease associated with growth impairment, severe obesity and metabolic dysfunctions. High proportion of PWS patients are born small for gestational age (SGA) than normal children, which also increase the risk of growth impairment and metabolic dysfunction in PWS. We aimed to compare growth outcome and metabolic profiles between SGA and appropriate for gestational age (AGA) PWS patients. Methods: Data of 55 PWS children and adults aged more than 2 years old (32 male and 23 female, age 2-18.8 years) from single center were studied. Only patients who were treated with GH were included. The clinical characteristics and laboratory findings were reviewed retrospectively. Results: Among 55 subjects, 39 had 15q11-13 deletion and 16 had uniparental disomy (UPD). Twenty (36.3%) were born SGA. All patients received GH treatment, and 11 (20%) discontinued GH treatment. Mean age at GH treatment initiation was 2.5 (range 0.3-12.4) years, and mean duration of treatment was 6.3 (range 1.0-11.3) years. Current height-SDS (-0.36 vs -0.16) and BMI-SDS (1.44 vs 1.33) did not differ between AGA and SGA group. Two patients in SGA group, but none in AGA group had diabetes mellitus. Mean glucose level was also higher in SGA group (100.1 vs 114.4 mg/dL). Conclusion: Our report gives an overview of growth profile and metabolic dysfunctions recorded in GH treated PWS patients. Growth profile did not differ between AGA and SGA group. Glucose level was higher in SGA group, so more careful monitoring and prevention for DM will be required in SGA group.

• Archives of Plastic Surgery
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• v.34 no.5
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• pp.656-658
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• 2007

Purpose: Prader-Willi Syndrome(PWS) is a congenital chromosomal disorder characterized by compulsive and early development of obesity. Obesity is identified as the main cause of morbidity in PWS individuals. Also, body change for rapid weight gain, such as gynecomastia, can cause considerable functional and psychological trauma, We corrected successfully gynecomastia in PWS patient, so we reported our experience of surgical method and literature reviews. Methods: A 16-year-old male patient presented with gynecomastia. He was diagnosed as with PWS at pediatric department. We performed reduction mammaplasty using inferior pedicle and Wise pattern. Excision amount was 1350g in right breast and 1415g in left breast. Also, we managed upper and lateral fullness of breast with liposuction. Results: There were no specific complications, such as hematoma, infection, nipple-areola complex necrosis, and so on. Also, aesthetic and functional outcome was acceptable Conclusion: We experienced successful correction of gynecomastia in PWS patient, and found advantages of conventional reduction mammaplasty using inferior pedicle and Wise pattern at this specific situation.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.2
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• pp.41-43
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• 2017

Prader-Willi syndrome (PWS) is a genetic disorder that is considered, especially on child, to cause poor feeding, hypotonia, failure to thrive, developmental delay and hypogonadism which is known to affect between 1 in 10,000 and 30,000 people. The children with PWS are viewed as affected by growth hormone (GH) insufficiency, although the exact mechanisms of GH deficiency are not fully understood. However, the benefits of GH treatment in children with PWS are well established. Myers, et al. (2006), Grugni, et al. (2016) indicated its positive effects on linear growth, body composition, motor function, respiratory function and psychomotor development. Despite of its effectiveness and advantages had been well known and proven in many other studies, there is only one recombinant GH product that is approved for PWS in Korea, $Genotropin^{(R)}$, till now. A phase III clinical study of GH treatment with $Eutropin^{TM}$, in 34 Korean PWS children is in progress, which is expected to have comparable effects and safety profile with the active control by assessing auxological changes such as height standard deviation score, body composition changes such as lean body mass and percent body fat, motor and cognitive development using Bayley scale, and safety profiles.

• Journal of Dental Anesthesia and Pain Medicine
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• v.15 no.4
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• pp.251-255
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• 2015

Prader-Willi syndrome (PWS) is a rare genetic disorder reported rarely in dentistry. Dental practitioners should know the features of PWS because affected patients have a variety of dental symptoms. The current report describes a case of PWS. An 18-year-old male patient presented with traumatic injuries. Initial emergency treatments were performed under sedation, and further treatments were conducted under general anesthesia. After adequate healing, periodic follow-up and dietary management according to the patient's age and nutritional phase were recommended. Dental management of PWS patients consists of active preventive measures in addition to dietary consultation according to age and nutritional phase.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.2
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• pp.38-40
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• 2016

Prader-Willi syndrome (PWS) is a rare genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. The goal of this study is to investigate the effects of recombinant human GH (rhGH, henceforth designated GH) on the gene expression related to cognitive function in the brain of PWS mouse model (Snord116del). GH restored the mRNA expression level of several genes in the cerebellum. These data suggest the effect of GH on the expression of cognitive function related genes in cerebellum may provide a mechanism for the GH-induced brain function in PWS patients.

• Journal of Pharmacopuncture
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• v.16 no.1
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• pp.43-49
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• 2013

Objective: Pyungwi-san (PWS) plays a role in a number of physiologic and pharmacologic functions in many organs. Interstitial cells of Cajal (ICCs) are pacemaker cells that generate slow waves in the gastrointestinal (GI) tract. We aimed to investigate the beneficial effects of PWS in mouse small-intestinal ICCs. Methods: Enzymatic digestion was used to dissociate ICCs from the small intestine of a mouse. The whole-cell patch-clamp configuration was used to record membrane potentials from the cultured ICCs. Results: ICCs generated pacemaker potentials in the GI tract. PWS produced membrane depolarization in the current clamp mode. Pretreatment with a $Ca^{2+}$-free solution and a thapsigargin, a $Ca^{2+}$-ATPase, inhibitor in the endoplasmic reticulum, eliminated the generation of pacemaker potentials. However, only when the thapsigargin was applied in a bath solution, the membrane depolarization was not produced by PWS. Furthermore, the membrane depolarizations due to PWS were inhibited not by U-73122, an active phospholipase C inhibitor, but by chelerythrine and calphostin C, protein kinase C inhibitors. Conclusions: These results suggest that PWS might affect GI motility by modulating the pacemaker activity in the ICCs.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.29-34
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• 2019

Prader-Willi Syndrome (PWS) is a rare neurologic disorder with a prevalence 1/10,000-30,000. The cause of PWS is an abnormalities of chromosome 15q11.2-q13 which is an imprinting gene. Obesity and hyperphagia are characteristic features on a PWS adult. On the other hand, the birth weight, height and body mass index (BMI) of PWS infants are 15-20% lower than those of normal babies and there is a failure to thrive until 24-month-old. Most of PWS patients are treated under general anesthesia and conscious sedation. This case is a treatment of severe caries in a PWS 46 month-old child without general anesthesia and conscious sedation. He came to the Department of Pediatric Dentistry, Kyung Hee University Dental Hospital at Gangdong, Seoul, Korea with a trauma history. He had a medical history with heart surgery and needed to take antibiotics prophylaxis. The luxated left upper primary tooth were removed and caries treatment were done as an outpatient without general anesthesia, conscious sedation.

• Herbal Formula Science
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• v.20 no.2
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• pp.29-35
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• 2012

Objectives : To provide the information of preservation method for herbal decoction, we evaluated the anti-inflammatory effects according to preservation temperature and period of Pyungwi-san (PWS, Ping wei-san) decoction. Methods : The anti-inflammatory activity of PWS was investigated by carrageenin-induced paw edema in SD rats. At 0 month, PWS extract was administrated 100, 300 and 1000 mg/kg/day orally for seven days prior to induction of edema. Edema was induced by subcutaneous injection of 1% carrageenin into the right hind paw. The paw volume was measured at 4 hr following carrageenin-induced paw edema in rats. At 6 and 12 months, PWS extracts according to preservation temperatures (room temperature, $4^{\circ}C$ and $-20^{\circ}C$) were administrated in rats and then carrageenin-induced paw edema volume was measured. Results : PWS showed inhibitory effect on carrageenin-induced paw edema in rats and the optimal dose was 1000 mg/kg/day at 0 month of storage. At 6 month of storage, PWS storaged at $4^{\circ}C$ and $-20^{\circ}C$ were inhibited paw edema but that storaged at room temperature was not reduced paw edema in rats. Conclusions : These results suggest that PWS decoction pouch has anti-inflammatory activities at both $4^{\circ}C$ and $-20^{\circ}C$ during 6 month storage.