• The Korean Journal of Pain
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• v.19 no.2
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• pp.288-291
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• 2006

Epidural analgesia using an epidural catheter is an effective method to relieve the pain during the rehabilitating procedure for postoperative orthopedic patients. Total spinal anesthesia is one of the possible complications of epidural catheterization which can lead to a life-threatening condition. Achondroplasia is the most common form of short-limbed dwarfism resulting from a failure of endochondral bone formation. In patients suffering with short stature syndrome like achondroplasia, the incidence and risk of total spinal anesthesia during epidural anesthesia may increase because of the technical difficulty and structural anomaly of the spine. We report here on a 35-year old female patient with a height of a 115 cm. She was diagnosed as achondroplasia and she had a previous Ilizarov operation; both tibial lengthening and correction of valgus were done. No specific event occurred during epidural catheterization. Immediately after the injection of a test dose via epidural catheter, the patient became hypotensive, drowsy and showed weakness of both her upper and lower extremities. The symptoms were disappeared after 40 minutes. The catheter was removed on the next day. We concluded that the total spinal anesthesia was caused by intrathecal injection of local anesthetics through the epidural catheter, and the anesthesia then migrated into the subarachonoid space.

• Bulletin of the Korean Chemical Society
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• v.29 no.2
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• pp.381-388
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• 2008

An X-linked skeletal disorder, SEDT (spondyloepiphyseal dysplasia tarda) is a genetic disease characterized by a disproportionately short trunk and short stature caused by mutations in the SEDL gene. This gene is evolutionarily conserved from yeast to human. The yeast SEDL protein ortholog, Trs20p, has been isolated as a member of a large multi-protein complex called the transport protein particle (TRAPP), which is involved in endoplasmic reticulum (ER)-to-Golgi transport. The interaction between SEDL and partner proteins is important in order to understand the molecular mechanism of SEDL functions. We isolated several SEDL-binding proteins derived from rat cells by an immobilized GST-fusion method. Furthermore, the SEDL-homologue proteins were identified using motif based methods. Common motifs between SEDL-binding proteins and SEDL-homologue proteins were classified into seven types and 78 common motifs were revealed. Sequence similarities were contracted to seven types using phylogenetic trees. In general, types I-III and VI were classified as having the function of acetyl-CoA carboxylase, glycogen phosphorylase, isocitrate dehydrogenase, and enolase, respectively, and type IV was found to be functionally related to the GST protein. Types V and VII were found to contribute to TRAPP vesicle trafficking.

• Korean Journal of Health Education and Promotion
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• v.24 no.5
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• pp.69-85
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• 2007

Purpose: The purpose of this study is to clarify the traits of differences supposed as secular differences in physical growth between samples of children and youth in 1999 and 2005, and to identify the need of children and youth for health promotion. Methods: Two samples of different cohort were selected. The first one was consisted of 231 boys and 346 girls in 1999. And the other was consisted of 171 boys and 400 girls in 2005. Then the longitudinal growth distance data were collected from their cumulative health examination records. Results: The 2005 were larger in growth distances of stature, body weight, sitting height, and chest girth a at all ages from 6 to 16 in both boys and girls, so it could be concluded that a certain positive shift in growth process appeared in such a short duration. The 2005 were larger in growth velocity before peak age and also after peak age in body weight, but only in the term after peak age significant secular differences were found in stature for both sexes. As far as the growth distance concerned, the 2005 boys were ahead of the 1999 boys from 0.28-1.02 years and the 2005 girls from 0.32 to 0.81 years. In growth distance. Only in peak velocity, significant secular change was recognized in both sexes, any positive evidences of appearance of secular change were not found in peal age. In such derived physical indices as BMI, body weight index, sitting height index, and chest girth index, obvious evidences of secular change appearance were found.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.9-17
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• 2015

Glycogen storage disease (GSD) type Ia is rare inborn metabolic disorder, caused by glucose-6-phosphatase deficiency. It characterized by hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia and it is usually manifested in the infantile period. In addition, it is also associated with growth failure, pubertal delay, anemia, platelet dysfunction, osteopenia, and pulmonary hypertension. Hepatocellular adenoma and renal dysfunction are frequent late complications. Delayed diagnosis and inappropriate therapy lead to many complications such as growth failure, osteoporosis, refractory gout, renal failure, hepatocellular carcinoma (HCC), and pulmonary hypertension. Here, two Korean sisters diagnosed with GSD Ia, aged 33 and 36 respectively, were described and compared to recent articles about four adults with late diagnosis of GSD Ia. One sister had typical manifestations of GSD Ia including short stature (height, 145 cm), multiple hepatic adenoma, chronic kidney disease stage IV, and severe osteoporosis, whereas the older sister had normal stature (162 cm), one tiny hepatic nodule, and normal renal function. Direct sequencing of G6PC in two sisters identified a homozygous splicing mutation, c.645G>T, which is a prevalent mutation in Korea. Interestingly, our cases and four adults from recent reports had asymptomatic mild hypoglycemia and various manifestations including renal failure, HCC, fatty liver, or uncontrolled hyperlipidemia. These adult cases represent not only heterogenous phenotype to genotype within family members with GSD Ia but also long-term complications such as gouty arthritis, renal failure, and osteoporosis in untreated adult GSD Ia patients. In addition, lactic academia and hypertriglyceridemia are good markers of GSD Ia to distinguish from metabolic disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.1
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• pp.68-74
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• 2000

Purpose: This study was to investigate the clinical manifestations of FTT in children. Methods: From March 1997 to July 1999, clinical observations were made on patients with FTT who had visited to Samsung Medical Center. Detailed histories and through physical examinations were taken, and when suspected organic FTT, basic laboratory studies were done. Results: Upon the review of medical records, we investigated the clinical manifestations of 74 children, aged 1 month and 13 year 1 month. The causes of FTT were composed of either physiologic (47.8%) or pathologic (52.2%) ones. Among the physiologic FTT, were there familial short stature (FSS, 14.5%), intrauterine growth retardation (IUGR, 14.5%), constitutional growth delay (CGD, 11.6%), idiosyncrasy and prematurity. Among pathologic causes, neurologic disorders (20%) are the most common causes of FTT, and then follow by GI (13.4%), allergic and infectious disorders in decreasing order. The data showed that average caloric intake in patients with FTT was 76,2% of recommended amount. FTT patients with CGD, IUGR, and idiosyncrasy had tendency to take small foods. The FTT children with prematurity, IUGR and pathologic FTT, were short and thin for their ages. However FTT children with CGD and FSS had tendency to be thin with relatively normal heights for their ages, in comparison with those of the children with prematurity, IUGR and pathologic FTT. Conclusion: The diagnosis of FTT was easily obtained with simple and through medical history, physical examination, and minimal laboratory tests. In this study, organic FTT was more prevalent than physiologic one. This results indicate that early intervention is mandatory, because children may develop significant long-term sequelae from nutritional deficiency.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.145-150
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• 2010

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

• Clinical and Experimental Pediatrics
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• v.57 no.5
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• pp.240-244
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• 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 ($p.Gln213^*$). To our knowledge, this is a novel mutation in GNAS.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.2
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• pp.99-104
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• 2010

Russell-Silver syndrome is a genetic disorder characterized by intrauterine and/or postnatal growth restriction and typical facies. The clinical feature is various due to heterogeneous genetic characters. Their common findings are short stature without catch-up growth, normal head size for age, a distinctive triangular face with prominent forehead and a pointed chin, low set ears and clinodactyly of the fifth fingers. Intraoral features of the syndrome are microdontia, delayed tooth eruption, hypodontia, and crowding. More than 400 case have been reported in the literature, and estimated incidence is from 1 in 3000 to 1 in 100,000. In this case we performed caries treatment under the general anesthesia for the patient with Russell-Silver syndrome. Dentist have to consider microstomia for the management of patients with Russell-Silver syndrome.

• The Research Journal of the Costume Culture
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• v.1 no.2
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• pp.159-179
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• 1993

The purpose of this study is to collect data for he improvement of the accuracy of upper garments construction of the old whose bodies have been changed due to their age. In this study the body measurements with 61 items were taken from 226 men(aged fro m 60 to 80) living in Seoul by the R. Martin's method in 1992. The data were calculate by computer and analyzed by the multivariate method, especially factor and cluster analysis. The results of the study were as follows; 1. The average stature of elderly males was 163.6cm, chest circumference 91.6cm, waist circumference 9\\85.5cm. hip circumference 92.8cm, neck circumference 37cm, arm length 55.4 cm, back length 42.6cm, shoulder breadth 42.9cm and the Roher's Index 1.39, which was a standard body shape. 2. The items of factor analysis were explained to seven, namely, the degree of fatness of the upper body, the size of the frame of body, the length of the upper body, the degree of curve of the front body, the size of shoulder, the shape of the back, and the slope of shoulder. 3. The body types of subjects were classified into four types. The majority was type 4, which was 67% of subjects and considered as balanced body type. The distinctive features of those types are as follows; Type 1. The subjects of this type had a slight skeletal structure and were the thinnest of all the subjects with thin and forward-bent arm. Type 2. The subjects of this type were the tallest of all the subjects. they had the straightest side of body and a well-developed upper arm. The thigh length of this type was longer than the length of trunk. Type. 3. The subjects of this type was only one, so ti could be excluded. Type 4. The subjects of this type had a long trunk, well-developed shoulder, and a crook in their neck and back. The arm length and thigh of this type were short and those circumferences were thick. Type 5. The subjects of this type were the shortest of all, but had the highest degree of fatness in the waist and abdominal. They had well-developed front muscles of body and projected hip.

• Fashion & Textile Research Journal
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• v.15 no.1
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• pp.130-137
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• 2013

The percentage of overweight people has increased in older people due to the change of body shape (including pregnancy and giving birth for women). Obesity is accompanied by body shape changes; subsequently, there are more pattern design considerations compared to standard body shapes. This paper classifies the upper body shape of overweight women in Korea, analyzes features by body shape and proposes basic pattern design data that reflects the features of plus-size women body shapes. The data on 540 subjects in the overweight group (from 20 to 69 years old)whose BMI was over 25 was selected. The following features by shape were identified in accordance with the upper body shape classification of overweight women. Body Shape1 had lower body obesity with long stature and arms in proportion to the trunk length and represented 22.2% of the subjects. Body Shape2 had most parts near average sizes for overweight body shapes with short height and arms that represented 37.6% of the subjects (the highest ratio). Body Shape3 was the smallest body shape in the four groups with the most distinct body figure and represented 30.7% of the subjects. Body Shape4 (9.4% of the subjects)was the upper body obesity type (the fattest group)and with of the waist bigger abdominal obesity type.