• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.148-154
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• 2016

A urea cycle disorder is a condition caused by a defect of the enzymes in the urea cycle, and deficiency of ornithine transcarbamylase (OTC), which converts carbamoyl phosphate and ornithine into citrulline, is the most common type of the disorder. OTC deficiency induces the accumulation of precursors of urea, ammonia, and glutamine, leading to neurological symptoms including hypotonia, respiratory failure, seizure, lethargy, and coma and sometimes to death. Because OTC deficiency is inherited in an X-linked manner, typical symptoms such as vomiting, poor feeding, and lethargy appear mainly in male neonates. We recently had a case that presented with neonatal onset lethargy, vomiting, and apnea in a 4-day-old boy. He was diagnosed with OTC deficiency by biochemical phenotype, including hyperammonemia and an increased orotic acid level in the urine. Genetic analysis of the OTC gene showed a novel mutation c.780_781insCAGGCAGTGT (p.Ile261Glnfs*35). He was treated for hyperammonemia using continuous venovenous hemofiltration (CVVH) at 118 hours after birth. After 4 days of CVVH, his consciousness and blood ammonia concentration were normalized, and he was discharged at the age of 53 days. At around 12 months of age, bilateral femur fractures and osteomyelitis occurred in this patient. Two months after the fracture, he died of septic shock, insulin-resistant hyperglycemia, and multi-organ failure.

• Clinical and Experimental Pediatrics
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• v.49 no.3
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• pp.292-297
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• 2006

Purpose : In medulloblastoma, craniospinal radiation therapy combined with chemotherapy improves the prognosis of tumors but results in significant endocrine morbidities. We studied the endocrine morbidity, especially growth pattern changes. Methods : The medical records of 37 patients with medulloblastoma were reviewed retrospectively for evaluation of endocrine function and growth. We performed the growth hormone stimulation test in 16 patients whose growth velocity was lower than 4 cm/yr. Results : The height loss was progressive in most patients. The height standard deviation score (SDS) decreased from $-0.1{\pm}1.3$ initially to $-0.6{\pm}1.0$ after 1 year(P<0.01). Growth hormone deficiency(GHD) developed in 14 patients. During the 2 years of growth hormone(GH) treatment, the improvements of height gain or progressions of height loss were not observed. Twelve patients(32.4 percent) revealed primary hypothyroidism. One of six patients diagnosed with compensated hypothyroidism progressed to primary hypothyroidism. Primary and hypergonadotropic hypogonadism were observed in two and one patients respectively. There was no proven case of central adrenal insufficiency. Conclusion : Growth impairment developed frequently, irrespective of the presence of GHD in childhood survivors of medulloblastoma. GH treatment may prevent further loss of height. The impairment of the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-thyroidal axis is less common, while central adrenal insufficiency was not observed.

• Childhood Kidney Diseases
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• v.10 no.1
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• pp.58-64
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• 2006

In the clinical state of vitamin D deficiency, it is possible that associated phosphate depletion, parathyroid hormone excess, and hypocalcemia may all depress the proximal tubular reabsorption of bicarbonate, in addition to abnormal skeletal modeling or remodeling, Although nutritional rickets is considered a rare disease in developed countries nowadays, cases of vitamin D deficient rickets caused by various unhealthy lifestyles such as insufficient exposure to sunlight, breast feeding infants without giving vitamin D supplements, unbalanced vegetarian diets of breast feeding mothers, low-birth weight, and maternal deficiency of vitamin D or calcium are increasing. Here, we present the case of an 8 month old girl, who was completely breastfed without any weaning diet or infant vitamin supplements. She visited our emergency room with hypocalcemic seizure and subsequently was diagnosed with vitamin D deficient rickets accompanied by overt bone changes and proximal renal lobular acidosis. After intravenous(IV) and oral calcium replacement therapy(IV calcium gluconate injection 1 mEq/kg/day for 6 days, 2 mEq/kg/day for 4 days followed by oral calcium gluconate administration 4 g/day for 3 days) with vitamin D supplement(Alfacalcidol 0.5 mcg/day) during admission, serum calcium level was normalized with clinical improvement. Oral sodium bicarbonate(0.6 g/day) was administered from the $2^{nd}$ hospital day for 2 weeks, which normalized the serum bicarbonate(measured by $tCO_2$) level. Calcium and vitamin D replacement were continued for 2 weeks and 3 months each. After discontinuing medications, follow up laboratory findings showed good maintenance of serum calcium, alkaline phosphate and bicarbonate levels with complete improvement of bone X-ray findings.

• The Journal of the Korea Contents Association
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• v.22 no.4
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• pp.700-705
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• 2022

Hemophilia is a congenital hemorrhagic disease in which blood clotting is impaired and hemostatic abnormalities occur when even one of the 13 factors required for blood clotting are deficient. Among the 13 factors, hemophilia A (factor 8), hemophilia B (factor 9), and hemophilia C (factor 10), depending on the deficient coagulation factor. A male patient in his 40s diagnosed with hemophilia A visited the dentist at Eulji University Hospital for problems with alveolar bone absorption and periodontal abscess caused by overall chronic tooth inflammation, and showed overall bone absorption and inflammation at the time of initial diagnosis. No complications or bleeding tendency were observed in the rest of the area except for #35 and #36 due to regular visits for 10 years, overall good oral conditions, and no side effects or complications were observed.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.277-283
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• 2003

Purpose : Craniopharyngiomas are often accompanied by severe endocrine disorders. Although there is universal growth hormone deficiency(GHD), the resulting growth pattern is very heterogeneous. We report the growth and endocrine outcome of 44 children with craniopharyngioma, with emphasis on initial symptoms, growth before and during growth hormone(GH) treatment and spontaneous growth in spite of GHD. Methods : We performed a retrospective study of 44 children treated at our centre between 1984 and 2002. Results : About 30% of patients had symptoms suggesting endocrine disorder at diagnosis. After surgery, multiple endocrinopathies were almost universal. Before GH therapy, height velocity was $8.00{\pm}2.71cm/yr$ in the normal growth group(n=11) and $1.79{\pm}1.10cm/yr$ in the subnormal growth group(n=7) during the first year and during the second year, $6.76{\pm}2.49cm/yr$ and $2.29{\pm}1.33cm/yr$, respectively. There was no difference of body mass index(BMI) change between before and after surgery in the two groups. Height standard deviation score(SDS) was $-1.46{\pm}0.74$ in the normal growth group and $-0.43{\pm}0.97$ in the subnormal growth group. Before GH treatment height SDS was $-1.31{\pm}1.25$ and BMI was $20.46{\pm}3.60$. During GH treatment, height SDS increased to $-0.60{\pm}1.37$ in the first, and to $-0.41{\pm}1.54$ in the second year(P<0.05), but BMI did not change significantly. Conclusion : The endocrine morbidity could develop in most children with craniopharyngioma before and after the operation and should be managed properly. Although all treated patients benefit from GH therapy, further studies are necessary to find out the possible mechanism of growth regulation in normally growing children, despite GH deficient.

• Journal of Life Science
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• v.19 no.12
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• pp.1841-1846
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• 2009

Menopause is often associated with the incidence of several chronic diseases including osteoporosis, cardiovascular disease, and obesity. Hormone replacement therapy (HRT) is an effective regimen that has been found to prevent these diseases in postmenopausal women. However, HRT is accompanied by an increased risk of unfavorable outcomes. Therefore, this study was conducted to evaluate the effects of Ecklonia cava, a kind of seaweed, extract on bone turnover markers in symptomatic menopausal women. For this study, the following four groups of 9-week-old Sprague-Dawley rats were evaluated over 6 weeks: normal rats (SHAM), ovariectomized rats (OVX-CON) and ovariectomized rats that were treated with Ecklonia cava extracts. The optimum extraction temperature and solvent of Ecklonia cava were found to be $80^{\circ}C$ and 80% ethanol. We measured the osteocalcin and CTx content, enzyme ALP activity in serum and collagen content in the cartilage, bone, skin and lungs. We found that the levels of indicators of bone metabolism such as ALP, osteocalcin and CTx were lower in rats in the Ecklonia cava extract group than the OVX-CON group. In addition, the collagen contents in the bone, cartilage, skin and lungs decreased in response to ovariectomy, but the levels of collagen were greater in the bone of rats that were treated with Ecklonia cava extract than in the bone of rats in the OVX-CON group. According to these results, we were able to know the effects of Ecklonia cava extract on bone aging in ovariectomized rats. Consequently, we expect Ecklonia cava extract to have an effect on bone aging in postmenopausal women.

• Clinical and Experimental Pediatrics
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• v.46 no.8
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• pp.803-810
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• 2003

Purpose : The purpose of this study was to evaluate the factors affecting the final adult height and total height gain in idiopathic and organic growth hormone deficient(GHD) children after growth hormone(GH) treatment. Methods : Thirteen patients with idiopathic GHD and 22 patients with organic GHD who had been treated with GH and attained adult final height were included in this study. Factors which could affect the final adult height(FAH) and total height gain, were evaluated. Results : Height SDS(standard deviation score) at initial GH treatment in idiopathic GHD was significantly shorter than that in organic GHD($-4.13{\pm}1.28$ vs $-1.66{\pm}1.06$, P<0.001). Growth velocity during the first year of GH treatment was $9.69{\pm}3.19cm$(idiopathic GHD) and $7.87{\pm}3.65cm$(organic GHD). Height(SDS) at puberty in organic GHD was significantly greater than in idiopathic GHD ($-0.55{\pm}1.25$ vs $-2.28{\pm}0.95$, P<0.001). Final adult height(SDS) was significantly greater in organic GHD than in idiopathic GHD($0.22{\pm}1.06$ vs $-1.44{\pm}0.84$, P<0.001). In idiopathic GHD, total height gain (SDS) was most significantly correlated with midparental height minus initial height(MPH-IH)(SDS) (r=0.886, P<0.001). Total height gain(SDS) was more significantly correlated with MPH-IH(SDS) and prepubertal height gain(SDS) in idiopathic GHD(r=0.640, P=0.01, r=0.801, P<0.001). Conclusion : Final adult height was greater in organic GHD than in idiopathic GHD patients. While total height gain(SDS) was more pronounced in children with lower initial height compared to MPH, absolute final adult height was influenced by height at puberty. To improve the final adult height in children with GHD, height at onset of puberty must be increased by early diagnosis and continuous treatment with optimal doses of GH. There results should be evaluated with more patients.

• The Journal of the Korea institute of electronic communication sciences
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• v.8 no.4
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• pp.631-637
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• 2013

Background and Objectives: The study was performed to investigate the status of osteoporosis for S electronics workers in H hospital of G city form April 21 to May 31 2008. Material and Method: The result of this research is following. Results: As results of osteoporosis analysis based on general characteristic, for men, something of 21 was the most frequent and osteoporosis of 13 was the second most frequent, and for women, good of 12 was the most frequent and care was the second most. The results concludes that men have more problems with osteoporosis that women have. In age of 40 years or more, care level of 24(88.9%) was the most frequent and good level of 15 people was the second most. This result concludes that age of 40 year is target subjects for care. In position, senior has 14 people who have care level(42.4%) and 8 people(24.2%)of osteoporosis level. The result concludes than the senior has more osteoporosis than the employ has. Conclusion: In conclusion, the age, position, weight are related to osteoporosis.

• Clinical and Experimental Pediatrics
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• v.48 no.8
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• pp.865-870
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• 2005

Purpose : The use of growth hormone(GH) to promote growth in normal short children without classical GH deficiency is controversial. Numerous foreign studies have shown the effects of GH therapy in children with idiopathic short stature(ISS) whereas few has been interested in Korea. Therefore, this study is designed to investigate the effects of GH therapy on ISS by observing correlations and changes among various growth parameters such as, insulin-like growth factor-I(IGF-I) and insulin-like growth factor binding protein-3(IGFBP-3). Methods : This study was conducted retrospectively with 15 children with ISS in Chungbuk National University Hospital in Korea. Mean age was $11.44{\pm}2.81$ and the children were treated with 0.66 IU/kg/wk dosage of GH for 1 or 2 years. Also, the growth parameters before and after the GH therapy were observed. Results : Height standard deviation score(HT-SDS) was increased from $-1.85{\pm}0.70$ to $-1.58{\pm}0.56$ at 1 year and to $-1.21{\pm}0.37$ at 2 years after GH therapy. Predicted adult height standard deviation score(PAH-SDS) was also increased from $-2.10{\pm}0.52$ to $-1.67{\pm}0.59$ at 1 year, and to $-0.96{\pm}0.60$ at 2 years. Serum IGF-I and IGFBP-3 levels were significantly increased after 1 year and marginally increased after 2 years of GH therapy. Conclusion : It is concluded that GH therapy has growth promoting effect. The significant increase in IGF-I and IGFBP-3 levels during the GH therapy suggests that IGF-I and IGFBP-3 are useful predictors of response to the use of GH therapy. It is expected that larger patient samples would provide more reliable information about the effect of GH therapy.

• 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.