• Radiation Oncology Journal
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• v.15 no.3
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• pp.207-213
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• 1997

Purpose : Intracranial germinoma is the most radiocurable tumor of theprimary intracranial neoplasm. But, the optimum radiation dose and target volume remain controversial In this retrospective study, we analysed the spreading pattern at presentation and the pattern of the failure and survival of intracranial germinoma, Materials and Methods : From 1989 to 1996, 23 Patients were treated for intracranial germinoma at Department of Radiation Oncology, Twenty-one Patients were treated at their initial Presentation and 2 Patients were treated for recurrent disease. Six patients had multiple tumor masses on MRI and 7patients had ventricular seeding on MRI. The examination of cerebrospinal fluid cytology was done in 15 patients and 3 out of 15 patients had positive cerebrospinal cytology. In tumor marker study of $\alpha-FP\;and\;\beta-hCG$, 6 patients had mildly elevated $\beta-hCG$ in serum or cerebrospinal fluid. Twentyone Patients were treated with whole craniospinal axis irradiation and 2 Patients were given whole ventricular radiation therapy. The total dose was ranged between 4500cGy and 5600cGy to primary tumor site (median 5580cGy) Dose to the entire ventricular system ranged from 1980cGy to 3960 cGy (median 2700cGy) and dose to the spinal axis ranged from 2160cGy to 3900cGy (median 2700cGy) Results : Of 23 patients, 21 Patients are alive without evidence of diseasefor median 4 years follow-up. One Patient who had markedly elevated $\alpha-FP\;and\;\beta-hCG$, suffered from Persistent disease after radiation therapy and received 2 cycles of chemotherapy. She died 9 months after chemotherapy One patient who developed ventricular seeding after gamma-knife was treated with whole craniospinal irradiation, he died after 1 year due to probably brain necrosis. The hematologic toxicity of 3 or 4 grade were seen in 7 patients and patient's endocrinologic dysfunction was not deteriorated after radiation therapy. One patient had been treated with growth hormone replacement due to short stature. Conclusions : This retrospective study has confirmed the excellent result of radiation therapy in intracranial germinoma. The complication rate during or after radiation therapy is considered within acceptable range. ft is necessary to further investigate the optimal dose and treatment volume of radiation therapy. The role of chemotherapy in the treatment of intracranial germinoma should be further investigated.

• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.191-196
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• 2005

Purpose : Short stature is one of the characteristic features of Turner syndrome. We investigated the factors affecting final adult height(FAH) in patients with Turner syndrome. Methods : The study group was comprised of 60 patients who were diagnosed with Turner syndrome by chromosomal study and clinical phenotypes and attained FAH. Data were obtained from retrospective review of the medical records. We analyzed the factors influencing FAH in growth hormone(GH) treated and GH untreated groups. Results : Sixty patients were enrolled; 48 patients received GH treatment, and 12 patients did not. Mean duration of GH treatment was 35.8 months(range 4 to 120 months), and mean dosage of GH was $0.8{\pm}0.2IU/kg/wk$ in GH treated group. Mean growth velocity was $5.6{\pm}2.0cm/yr$, which was significantly higher than that during pretreatment period. In the GH treated group, mean chronological age, bone age, mean height, and height standard deviation(SD) score at GH treatment were $12.2{\pm}2.7yr$ $10.3{\pm}2.5yr$ $127.5{\pm}10.1cm$ and $-3.1{\pm}1.1$, respectively. In the GH treated group, the mean FAH and SD score of FAH were $146.9{\pm}5.8cm$ and $-2.7{\pm}1.2$, respectively, which showed significant differences compared with those of the GH untreated group. Analyzing the factors affecting FAH in GH-treated patients, only the SD score of height at the time of treatment was significantly related to FAH. Conclusion : GH treatment leads to an increment in FAH in patients with Turner syndrome. Average FAH gain was as much as 5.8 cm. SD score of height at the time of GH treatment was the only factor influencing FAH.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.13 no.1
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• pp.51-57
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• 2010

Purpose: It has been reported that children with hypopituitarism have features of metabolic syndrome, including obesity, impaired glucose tolerance, and dyslipidemia. The aim of this study was to investigate the clinical features and liver histology of pediatric non-alcoholic fatty liver disease (NAFLD) associated with hypopituitarism. Methods: We reviewed the clinical data of 11 children diagnosed with NAFLD among patients with hypopituitarism. Results: The mean age at the time of diagnosis of hypopituitarism was 10.4${\pm}$3.2 years, and the mean age at the time of diagnosis of NAFLD was 13.1${\pm}$2.7 years. A craniopharyngioma was the most common cause of pituitary dysfunction. At the time of diagnosis of NAFLD, 9 patients (82%) had a body mass index greater than the 85th percentile, 5 patients (45%) had elevated fasting blood glucose levels, and 9 patients (82%) had hypertriglyceridemia. The mean height SD score was significantly lower at the time of diagnosis of NAFLD than at the time of diagnosis of hypopituitarism. Of the six patients who were biopsied, one had cirrhosis, two had non-alcoholic steatohepatitis (NASH) with bridging fibrosis, two had NASH with mild portal fibrosis, and one had simple steatosis. Conclusion: Children with hypopituitarism are at risk of short stature, obesity, dyslipidemia, and NAFLD. The early diagnosis of NAFLD is important in children with hypopituitarism because advanced fibrosis is common.

• Journal of Life Science
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• v.21 no.1
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• pp.1-8
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• 2011

The purpose of this study was to investigate whether 12-weeks of movement training would increase the psoas major cross-sectional area (CSA) in senior men and women. Fifty eight men and women aged 65 to 80 years old ($69.6{\pm}3.7$, 30 male, 28 female) were divided into a control (n=19) and exercise group (n=39). Subjects were assessed before and after the training program for stature, body mass, and magnetic resonance imaging of the psoas major and the quadriceps muscle. The experimental group performed exercises using machines designed to improve the movement of the hip at a frequency of twice every week, with a total of 23 trainings in 12-weeks. Magnetic resonance images of both thighs and the abdomen and psoas major were obtained, aimed at 50% of the length of the greater trochanter and the lower edge of the femur and between the fourth (L4) and fifth (L5) lumbars. A 9.4% increase in the psoas major CSA in the training group was observed. In the male and female breakdown, a 11.5% and 8.4% change was observed in males and females, respectively. In the quadriceps, there was no significant statistical improvement in either males or females. Furthermore, in the control group, there was no significant change seen in either the psoas major or the quadriceps. As a result of conducting training that enables upkeep of posture and smooth linkage of the lumbar spine, the pelvis and thighbone, the psoas major CSA of older adults were improved in a short period of time. For this reason, the possibility of improving the psoas CSA, which decreases remarkably with increased age, by improving the linkage of the body trunk is also suggested.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.111-119
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• 2013

Purpose: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the enzyme ${\alpha}$-L-iduronidase, which leads to a broad spectrum of multisystemic manifestations. Short stature and decreased growth velocity are prominent features of MPS I. The aim of the present study was to evaluate the effect of enzyme replacement therapy (ERT) on growth of Korean MPS I patients from a single center. Methods: Height data were obtained by retrospective chart review of 10 Korean patients with MPS I who had received ERT for a minimum of 3 years. Height was expressed as standard deviation scores (SDS) based on normative data. Annual growth rates were calculated before and during ERT. A piecewise regression model was used to analyze height z-scores before and after treatment. Individual analysis was performed for impact of phenotype [(severe (Hurler) versus attenuated (Hurler-Scheie, Scheie)] on growth. Results: Annual growth was 3.3 cm (z-score= -0.21) in the year before ERT and 6.2 cm (z-score= 0.17), 5.8 cm (z-score= 0.07), and 3.8 cm (z-score= -0.4) in the first, second, and third years of ERT, respectively. Regression analysis showed improvement in the slope after ERT (difference= 0.04; P=0.022). Estimated slope differences between severe and attenuated phenotypes were statistically significant before (P=0.001) and after treatment (P<0.0001), although no significant difference was noted when stratified by phenotype. Conclusion: ERT with aldurazyme appears to have a positive impact on linear growth in patients with MPS I.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.15-21
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• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

• Journal of Society of Preventive Korean Medicine
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• v.1 no.1
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• pp.149-165
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• 1997

In order that, investigating the feature of patients suffering arthritis, analysing its contents, and grasping a Primary factor affecting it, I might offerbasic datas which could help to plan and perform healthy affairs to thake precautions beforehand, I have investigated, analysed, and studied a total of 320 patients suffering arthritis, who have received physiotherapy in hospital located in Teaegu area for five months, from November 1 1995 to March 30 1996, of which summary and conclusion is this. 1. The general feature of patients in investigative objects In the distribution of the distinction of sex, men accounted for 26.9% and women, for 73.1%, and, in the fistribution of age, 60-year-old or more, most for 27.2% and from 20 to 29 years old, least for 14.0%. In the distinction of a vocation, housewives most accounted for 34.7% and students(jobless men), least for 19.3%. In the distinction of a matrimonial state, married persons most accounted for 76.7% and people living alone(divorce, separation by death, separation), least for 11.4%. In the distinction of an economic state, the middle classes most accounted for 73.5% and the upper classes, least for 2.9%. In the distinction of their academic careers, graduates of a primary school most accounted for 26.9% and graduates of university, for 14.1%, of which patients, having the ability to decode the national language, reached to 11.3%. In the distinction of the house form, people living in independent houses most accounted for 76.4% and residents in apartment(having an elevator), least for 9.4%. 2. In the distribution of the recurring state in the distinction of the feature, the recurring group was more than the group of patients falling that ill at first as 62.2% and in the distinction of the feature of the recurring group, the recurring group turned high in case of men being from 50s to 60s years old or more, people living alone (divorce, separation by death, separation), students (joblessmen), people working in farming, stockbeeding, forestry, fisheries, a simple labour, graduates of a primary school I having the ability to decode the national language, the upper classes, people part two years since they begined to suffer arthritis, people who had members having ever experienced arthritis among families. 3. In the distribution of arthritis on the distinction of bodily pars, a knee articulation most accounted for 50.2% and the articulation of fingers, for 8.8%, wile the simultaneous, several parts (multiple) accounted for 35.1%. In the distinction of the feature, arthritis of a knee turned high in case of men being from 20s to 30s years old, unmarried persons, people having academic careers of university, the middle classes, residents in apartment (having stairs). In the dictnction of a feature the case of several parts (multiple) turned high in case of women being from 50s to 60s years old or more, people living alone (divorce, separation by death, separation), people having the ability to decode th. national language, the graduates of a primary school, the upper classes, residents in apartment (having elevator). 4. In the distribution of arthritis on e distinction of a contracting term, two years or more most accounted for 51.6% and the case of contacting from one year to two years, for 15.3%. Analysing the distinction of the feature, the case of two years or more turned high in case of women being from 50s to 60s years old or more, people living alone (divorce separation by death, separation), the upper classes, people having the ability to decode the national language, residents in apartment (having elevator). 5. In the distribution of an treatment institution before patients came to help, their not curing most accounted for 39.1%, general, orthopedic, neurological surgery (physical therapy), for. 20.0%, and th. therapy of Chinese medicine (acupuncture, moxacautery, Chinese medicine), for 17.5%, and a pharmacy (medical therapy), for 13.4%. The case of patients not curing, in the distinction of a feature, turned high in case of men 20s years old, unmarried, the lower classes, people having academic careers of university, residents in apartment (having elevator). 6. In e distribution of the extent of satisfaction with treatment, common most accounted for 54.4% and some satisfaction, for 32.8%. The case of common, in the distinction of a feature, turned high, in case of men living alone from 50s to 60s years old (divorce, separation by death, separation), married persons, the upper classes, people having academic careers of university, residents in independent house, residents in apartment (having elevator), 7. In the distribution of the degree of knowledge of the cause of arthritis, patients knowing that the cause is to use very much a articulation in normal times most accounts for 60.1%, and patients knowing the state of short nutrition as a cause, for 2.5%. The case of patients knowing that the cause is to use very much in normal times, in the distinction of a feature, turned high in·case of ment being 20s and 60s years old or more, unmarried persons, e lower classes, people having the ability to decode. the national language, people having academic careers of university, residents in apartment (having stairs), 8. In the distribution of the state of physical exercise before arthritis contracted, patients exercising very much on the whole most accpimend for 40.3%, and patients not exercising, for 34.7%. The case of patients exercising very much on the whole, in the distinction of the feature, turned high in case of men being from 50s to 60s years old or more, people living alone(divorce, separation by death, separation), the lower classes, people having the ability to decode the national language, graduates of a primary school, residents in apartment (having elevator). 9. In the taste of patients suffering from arthritis, while the group of patients falling that ill at first and the recurring group didn't smoke cigarets, during alcohol and coffee on the whole, and the group of patients falling once again that ill drank a cup of distilled linquor and three cup of coffee or more on the whole per one day, and the group of patients falling that ill at first liked sort of vegetables and the recurring group liked very much sons of vegetables and fresh and meat in their loving food normal times. 10. Analysing the distribution on the dining table used by patients and the structure of a powder room, at first, in the structure of a powder room, the group of patients filling that ill have a toilet stool using as their sits, and a Bush toilet on the whole, and the recurring group, a toilet stool using as their sits and conventional type, and in the structure of a dinning table, the group of patients falling that ill at first and the recurring group turned high, each as 66.9% and 6.3%, who have a dining table carring here and there. 11. In the distribution of patients of arthritis in relation to stress, the case that they feeled severly symptoms of arthritis when thay got stress, turned high, each, as 78.6% in the recurring poop, and the case not knowing, as 61.5% in the first group. In the extent of stress normal times, the case that they got much stress on the whole turned high, each, as 72.4% in e recurring group, and the care that got less stress on the whole, as 60.0%. 12. In the distribution on the distinction of symptoms and impedimental extent, the recurring group turned high in each variable. Analysing the feature of the recurring group, in the distinction of symptoms, the case that they fooled much that the node of an articulation is stiff, turned high, as 71.6, and in the distinction of treatment before. patients came to helpk, the theraphy of Chinese medicine (physical theraphy), as 84.4%, the theraphy of Chinese medicine (acupuncture, moxacautery, Chinese medicine), as 73.2%, and in the distinction of the satisfing extent on treatment, the case of comman, as 72.3%, and in the cause of arthritis, the case not recruiting their health after a birth, as 68.5%, and the case not recovering wholely an articulation having got hurt, as 62.8%, and in the state of physical exercise before they begined suffering from arthritis, the case exercising very much on the whole, (as 74.2%), and in the extent of subjective impediment, the case of not being able to act almost, as 66.7%, the case of acting but feeling some hard, as 66.3%. 13. The correlation in variables in relation to arthritis Analysing realted variables, the recurring frequency showed correlation with such as the extent that patients got stress normal times, and the exercising state before suffering arthritis, and showed contra-correlation with academic careers, the wights, coffee. The cigaret, e loving food of taste, showed corralation with the weight, stature, alcohole as the loving food of taste. On the basis of this result medical members of heal, who are related to the regular education, public education or development of this program, should be concerned to prevent orthris.