• The Journal of the Convergence on Culture Technology
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• v.4 no.4
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• pp.439-448
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• 2018

With the aim of examining changes in plantar pressure while walking depending on the position of carrying a bag, this study measured the plantar pressure of 33 normal male and female adults using the F-scan System in four different positions to carry a bag: walking without carrying a bag; walking with carrying a bag on both shoulders; walking with carrying a bag on one shoulder; and walking with carrying a bag in one hand. Changes in the plantar pressure of the subjects obtained in this study and the asymmetry of the left and right feet were analyzed. The plantar pressure of the different areas of the feet in the four different positions to carry a bag was compared. The left foot, except its toes and metatarsus, showed a statistically significant difference among the five conditions, and the right foot, except its 4th and 5th caput metatarsalis, also showed a statistically significant difference (P>.05). Given the results of this study, this experiment to examine changes in plantar pressure does not seem to be enough to identify which position to carry a bag, except carrying a bag on both shoulders, would have the lowest negative impact on the feet. It will be necessary to conduct a follow-up study on changes in plantar pressure depending on the position of carrying a bag and methods that can effectively treat abnormal positions such as scoliosis and kyphosis using asymmetric loads.

• Korean Journal of Applied Biomechanics
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• v.33 no.2
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• pp.73-83
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• 2023

Objective: Adolescent idiopathic scoliosis patients make up 40% of all scoliosis patients, and it is likely to increase even more because of the increase in sitting times due to the pandemic. Method: The subject of this study was a 16-year-old female student. The Cobb's Angle at initial value was 42° at the thoracic and 33° at the lumbar. The subject's height was 161.6 cm, and the type of scoliosis was 3CL. The brace was built with fabric materials with the size information from the X-ray information and actual measurements. The brace was made for the adolescents to wear for a longer time by making them put pressure on the same pressure points of the existing braces. The subjects were required to wear the device for 16 hours every day for three months. Additional features to check the pressure and time were synchronized through an app for easier communication and management with the responsible investigator. Results: After wearing the 3D Fabric brace, Cobb's angle changed from 42° to 33° at the thoracic and 33° to 23° at the lumbar. The ATR changed from 9° to 8° at the thoracic and 11° to 6° at the lumbar. As a result, the changes in the ATR angle do relate to the decrease of Cobb's angle, which made the angle of scoliosis that is bent in a three-dimensional way improve, making the height of the subject increase from 161.6 cm to 163.5 cm. Conclusion: Through this study, developing a brace that is made in the form of the 3CL to align the strap direction and putting pressure on the proper pressure points makes Cobb's angle and the ATR smaller. This means that there is a positive effect on the changes in height. A brace made of light fabric material is a good brace to help treat adolescent idiopathic scoliosis. There was an opinion that it is more comfortable to wear than existing braces, but it seems necessary to conduct a quantitative study about the before and after of wearing the brace and a survey for Korean specific cases.

• Clinical and Experimental Pediatrics
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• v.51 no.3
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• pp.315-322
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• 2008

Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone (GH) therapy between these two PWS genotypes was analyzed. Methods : Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15). Results : Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy. Conclusion : Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.

• Clinical and Experimental Pediatrics
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• v.51 no.8
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• pp.812-819
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• 2008

Purpose : Vitamin D plays a key role in bone mineralization of the skeleton and vitamin D deficiency can lead to rickets. It is well known that vitamin D deficiency is common in breast fed infants. Of these patients, clinically, some have no signs of rickets, but laboratory and radiographic findings are diagnostic for vitamin D deficiency rickets (subclinical vitamin D deficiency rickets). The purpose of this study is to clarify current causes and ways to prevent this disease. Methods : We reviewed the clinical and laboratory characteristics of children who were incidentally diagnosed as subclinical rickets during treatment of other disease such as pneumonia, gastroenteritis, urinary tract infection at Eulji Hospital, Seoul, Korea from March, 2003 to July 2007. Results : Eight patients (six boys and two girls) were diagnosed with subclinical vitamin D deficiency rickets. The mean age of the patients was $12.6{\pm}5.8months$, and they were diagnosed from January to July. The associated diseases were pneumonia, urinary tract infection, acute gastroenteritis, and iron deficiency anemia. All patients were breast-fed. Two showed growth failure. The mean serum alkaline phosphatase was $1995.8{\pm}739.5IU/L$, the mean calcium count was $9.5{\pm}0.6mg/dL$, and the mean phosphorus content was $3.6{\pm}1.5mg/dL$. The mean intact parathyroid hormone was $214.8{\pm}155.9pg/mL$ (reference range, 9-65), the mean 1,25-dihydroxyvitamin D was $82.4{\pm}49.3pg/mL$ (reference range, 2070), and the mean 25-hydroxyvitamin D was $29.6{\pm}10.6ng/mL$ (reference range, 1030). A radiographic examination showed cupping, fraying, and flaring of metaphyses in all patients. Six patients were administered calcitriol (400 IU/day) for three months. A consequent radiographic and laboratory examination showed improvement. The first two patients were initially diagnosed with metaphyseal dysplasia, without the detection of vitamin D deficiency and they spontaneously improved without vitamin D supplements. However, two years later, they showed mild scoliosis and metaphyseal dysplasia, respectively. Conclusion : Breast-feeding without supplementation involves high risk of vitamin D deficiency. Some infants may also develop rickets; therefore, such groups should be considered for vitamin D supplementation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.