• 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 Interdisciplinary Genomics
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• v.5 no.2
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• pp.13-17
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• 2023

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

• Journal of the Korea Fashion and Costume Design Association
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• v.20 no.2
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• pp.73-87
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• 2018

As men in their 30s are spending more money on clothing, it is becoming increasingly important to first conduct an anthropometric study and then develop garment patterns accommodating the changes found in body sizes and types of men in their 30s, in order to effectively address their fit dissatisfaction. Thus this study aims to explore changes in upper body sizes and body types of men in their 30s, which provide basic measurements for designing major garment items including jackets and shirts. To this purpose, key anthropometric dimensions of the upper body of men in their 30s, taken from the 6th (2015) and 7th (2016) surveys conducted by Size Korea, were analyzed using SPSS 24.0 for Windows. Independent sample t-tests were conducted on major upper body sizes to track changes with measuring time. Factor and cluster analyses were used to classify body types. By comparing the two surveys, it was found that the overall body sizes of men in their 30s were increasing in height-related items, circumference, thickness, and width, -as well as body weight and BMIs. Upper body height-related items, in particular, showed a higher average value in the 6th survey than in the 7th, indicating that the overall body types of men are becoming "westernized" with longer legs and shorter torso. Finally, five factors were derived to determine the typical upper body types of men in their 30s and the body types were classified into three categories according to the cluster analysis. First, those with a relatively small build with short stature and torso. Second, those with the highest stature and vertical dimension with the smallest torso volume and least body fatness. Third, those with the biggest torso volume and most body fatness with bigger width between armpits and shoulders. The distributional pattern analysis showed that men in their 30s tend to have increasingly higher stature but lower body weight and BMIs than in the past, implying that their body types are becoming close to those of men in their 20s.

• Clinical and Experimental Pediatrics
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• v.49 no.6
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• pp.665-671
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• 2006

Purpose : To study the effects of growth hormone(GH) treatment on glucose metabolism and insulin resistance in children with idiopathic short stature(ISS). Methods : Glucose and insulin concentrations were measured during oral glucose tolerance test (OGTT) before and after GH treatment(0.6-0.7 IU/kg/week) in 20 patients with ISS. Insulin resistance was assessed by homeostasis model assessment(HOMA). Results : During OGTT, the mean blood glucose level did not show any significant changes after GH treatment. However, mean blood insulin levels of fasting and 30 minutes of OGTT showed significant increases after GH treatment, accompanying significant increases of insulin resistance. There was no difference in change of glucose, insulin levels and insulin resistance before and after GH treatment between two groups of body mass indices(BMI) of 25< and >25. There also was no significant difference between two groups of with and without family histories of diabetes mellitus (DM). There was no case of newly developed impaired glucose tolerance, fasting glucose tolerance, nor newly developed DM. Conclusion : GH treatment with doses of 0.6-0.7 IU/kg/week for mean 9.6 months in patients with ISS did not show any significant changes in blood glucose levels during OGTT. However, GH treatments induced considerably higher fasting insulin levels compared to pretreatment, resulting in statistically higher insulin resistance. Higher BMI and family history of DM did not induce any significant changes in glucose, insulin level and insulin resistance after GH treatment than the other groups.

• The Journal of Pediatrics of Korean Medicine
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• v.14 no.2
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• pp.149-168
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• 2000

The Purpose of this study was to investigate the new effective oriential medicine tretments in pediatric disease and its clinical applicability The study was composed of 1245 new patients who had been treated at the all unit in the Dong-Seo oriential Medicine Hospitial for 1 year, from 1 April 1999 to 31 March 2000, and aged between 0 and 18 years. The chief complaint was mainly categorized by oral examination on patients and their care-givers. Result 1. The numbers of children who involved in this study is total 1245: Male children are 668 and female children are 577 children. The sex rate between male and female is 1.15 to 1. 2. Most of the above patients came to the hospital at first time from diseases such as musculoskelectal disease, weakness, asthma, cough, anorexia, common cold, rhiorrhea, sweating, dyspepsia, dematitis, night terror, obesity, stomach, short stature, Besides, they also came to the hospital at first time from various diseases such as epistasxis, pyrexia. Bell's palsy, nocturia, contipation, cerebral palsy, disorder, CVA. diarrhea. stress disease, Allergic disease, Tic disorder. Visual disorder, Kawasaki disease, Pierre Robin's syndrom, hematuria, edema and so on. 3. Looking at the frequent diseases, Respiratory dis. children including asthma, cough, rhiorrhea, sweating, common cold, pyrexia covers 36%, in 399 numbers. digestive dis. children including anorexia, dyspepsia, stomach, diarrhea, constipation, indigestion covers 19%, in 211 numbers. cadiovasculary disease children including arrthymia, terror in frequency, night crying, sediation, Tic disorder covers 8%, in 85 numbers. Hepatobiliary disease children including short stature, dizziness, visual difficulty, sprain, disorder of nail covers 21%, in 238 numbers. renal disease. children including nocturia, hematuria, hemation, disorder of hair, menorrhea, cerebral palsy, edema in 44 numbers. Fatigue children covers 13%. in 143 numbers. 4. In case of respatory disease children. total number is 399 children. dematitis children are 108 numbers and asthma children are 96 numbers. These show that children seem to the best have dematitis and asththma. The age from 0 to 6 is 290 numbers, covering 73 percentage. The others are covering 27 percentage. These data demonstrate that the age from 0 to 6 age could easily get these kinds - of diseases. The 29 percent of children had these kinds of diseases in spring. The 28 percent of children had these kinds of diseases in autumn. These show that children seem to frequently have these kinds of diseases in both spring and autumn season.(inter-season) 5. In case of digestive disease, anorexia covers 39%, in 83 numbers, dyspepsia covers 28%, in 59 numbers, anorexia and dyspepsia were the lagest group in digestive disease and the age from 0 to 6 covers 59%, in 125 numbers and the other age covers 39%. According to these data, infant seems to be vulnerable to these kinds of diseases. The 24 percent of children had these kinds of diseases in spring and summer. The 33 percent of children had these kinds of diseases in winter, which means that children mostly had winter. but decreased significant in autumn. 6. In case of cadiovasculary diseases, it can be divided into two categories: night covers 73% and nervous characteristics covers 27%. The age from 0 to 6 occupies 75%, and the other age occupies 25%. These data also show that infants can easily infected with these kinds of diseases. Analyzing by the season, summer could be the most frequent season that children have these kinds of diseases. but decreased in autumn. 7. In case of hepatobiliary children, sprains covers 166 numbers, fatigue covers 32 numbers, epistasxia covers 24 members, the reasion which sprain occupyied most of % were sprain covered ages. The age from 0 to 14 covers 59% and from 15 to 18 covers 41%. In the conclusion the adolescent seems to be vulnerable to sprains. In spring 29%, insummer 31%, in autumn 23%, and in winter 28% of children got these kinds of diseases, which show that children seems to have this kinds of disease in summer season. and decreased in autumn. 8. In case of renal disease. nocturia and hematuria covers 52%(occupied overhalf). The age from 0 to 6 covers 52%(occupied overhalf). Analyzing by season, in spring increased in summer(59%), decreased in autumn(45%) Conclusion 1. The chief complant in pediatric diseases that needed an oriental medical tretment was mainly the disease that tends to take iong time and the weakness. and appeared frequency in respiratory disease : 2. The oriential medical tretment was still preferred as a way to improve the weakness by patients, rather than a way to overcome their disease. In paticular, the study shows that the oriental medical tretment should be emphasized in terms of preventing the disease 3, The new disease, which were developed with the change of human life and envir oment(just like seual disorder, short stature, obesity, dynamic disorder, examinee disease), should be in vestigated as a new field of oriental medical tretment.

• The Journal of Pediatrics of Korean Medicine
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• v.12 no.1
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• pp.63-76
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• 1998

BACKGROUND : The purpose of this study was to investigate the new effective oriental medical treatments in pediatric diseases and its clinical applicability. METHOD : The study was composed of 1725 new patients who had been treated at the pediatric unit in the Dongguk Bun-Dang Oriental Medicine Hospital for 1 year, from 1 January 1997 to 31 December 1997, and had ages between 0 and 18 years. The chief complaint was mainly categorized by oral examination on patients and their care-givers. RESULT 1. The ratio of male to female was 1.35:1 and the number of each age group and its percentage distribution was 228 patients (13.2%) for the age group between 0 and 1 year, 746 patients (43.2%) between 2 and 6 years, and 751 patients (43.6%) for the age group over 7 years. 2. The chief complaint of the new outpatients was weakness, asthma, common cold, sinustis, skeletal disease, atopic dermatitis, stomach-ache, short stature, diarrhea, nasal blooding, night terror, allergic rhinitis, gastric disorder, enuresis, dermatitis, strabismus in the order of majority.3. The number of patients and its percentage for the most three complaints was 494 patients (28.6%) for weakness, 647 patients (37.4%) for respiratory disease, 144 patients (8.3%) for digestive disease. 4. The digestive disease tended to increase in summer, and appeared mostly in the age group between 0 and 2 years. The respiratory disease increased In inter-season and winter, but decreased significantly in summer. The age group between 1 and 5 years was the largest group of respiratory disease. CONCLUSION 1. The chief complaint in pediatric diseases that needed an oriental medical treatment was mainly the disease that tends to take long time and the weakness, and appeared frequently in digestive and respiratory diseases. 2. The oriental medical treatment was still preferred as a way to improve the weakness by patients, rather than a way to overcome their disease. In particular, the study shows that the oriental medical treatment should be emphasized in terms of preventing the disease. 3. The new diseases, which were developed with the change of human life and environment, (atopic dermatitis, enuresis, short stature, obesity, dysthymic disorder, strabismus), should be investigated as a new field of oriental medical treatment.

• Clinical and Experimental Pediatrics
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• v.48 no.8
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• pp.877-880
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• 2005

Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD Ia. The five exons of G6Pase gene were amplified and PCR products were directly sequenced. The frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, hypercalciuria, nephrocalcinosis and hepatic adenoma was compared between 727G>T homozygotes and 727G>T compound heterozygotes. Results : A total of 5 different mutations were identified. The most common mutation was the 727G>T with an allele frequency of 80%. All patients were either homozygous(12/20) or heterozygous(8/20) for the 727G>T mutation. G122D was found in 3 patients, P178A in 1, G222R in 2, and S339R in 2. There was no difference in the frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, nephrocalcinosis, and hepatic adenoma between 727G>T homozygotes and heterozygotes. Conclusion : Diagnosis of GSD Ia can be based on clinical and biochemical abnormalities combined with mutation analysis instead of enzymatic diagnosis that requires liver biopsy. Homozygosity for the 727G>T does not seem to alter the disease phenotype as compared with the heterozygous state.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.4
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• pp.619-624
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• 2009

Pyknodysostosis(PKND) is a rare sclerosing bone disorder that has an autosomal recessive trait, also known as Toulouse-Lautrec syndrome. Deficiency of the cathepsin enzyme K in the osteoclasts of PKND patients results in continuous endosteal bone deposits without osteoclastic resorption or remodeling. This causes a generalized increase in sclerosis and fragility of bones. Osteomyelitis in the mandible and recurrent fracture of the long bones are characteristic complicatons of PKND. The patients present typical features of PKND, such as short stature under 150 cm, open cranial suture and fontanelle, club-shaped phalanges, and underdevelopment of midface. This is a case of a 7-year-old girl with PKND, who visited our clinic with the chief complaint of anterior Open-bite and generalized crowding. The patient had been diagnosed as PKND by an orthopedist and manifested characteristic clinical and radiographic features, such as open cranial suture and fontanelle, obtuse madibular gonial angle, frontal and occipital bossing, grooved palate, club-shaped phalanges, and short stature. Orthodontic treatment was not considered because patients with PKND show abnormal bone resorption and remodeling. Instead, removal of deciduous teeth near exfoliation and TFA were performed, and periodic check-up is planned to maintain good oral hygiene.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.49-54
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• 2015

Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.