• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.213-217
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• 2007

Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement ($Myozyme^{(R)}$, Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.189-194
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• 1997

Oligomeganephronia is a rare congenital form of bilateral renal hypoplasia histologically characterized by reduction in number and hypertrophy of nephrons. Clinically, this condition is presented in early infancy with vomiting, polyuria, polydipsia and dehydration. The problems are readily corrected, but slowly progressive renal failure follows accompanied by failure to thrive, short stature, and renal osteodystrophy. We experienced three cases of oligomeganephronia. Case 1. : A 3 2/12 years old female child was incidentally diagnosed as renal failure at age of 2 months when she was hospitalized due to pneumonia. She had open renal biopsy and was diagnosed as bilateral dysplastic kidney. On OPD follow-up, she progressed to end-stage renal failure (BUN/Cr 114/4.6 mg/dl) and had renal transplantation. The specimen was shrunk remarkably and light microscopy showed oligomeganephronia. Case 2. : A 14 8/12 years old female child with proteinuria was detected in an annual urine screening program for school children, she was diagnosed as renal failure (BUN/Cr 33.9/4.1 mg/dl), and had $5{\times}4{\times}3\;cm$ sized mass on abdominal CT scan. She had renal biopsy, and the specimen showed oligomeganephronia. She had hemodialysis for six months, and renal transplantation along with bilateral nephrectomy was performed. Case 3. : A 14 8/12 years old male child was diagnosed having chronic nephritis and chronic renal failure at 3 years old, progressed to end-stage renal failure (BUN/Cr 87/9.6 mg/dl) on OPD follow-up, and had a rephrectomy and renal transplantation. The biopsy specimen showed oligomeganephronic hypoplasia, secondary focal segmental glomerolosclerosis, and chronic interstitial nephritis. We report 3 cases of oligomeganephronia that progressed to end-stage renal failure and had successful renal transplantation with a brief review of related literatures.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.408-413
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• 2010

Purpose : We aimed to prove the relative limitation of $^{99m}Tc-DMSA$ scintigraphy (DMSA) compared to computed tomography (CT) in diagnosing acute pyelonephritis (APN) in children. Methods : Since September 2006, after a 64-channel CT was imported, 10 DMSA false-negative patients have been identified: these patients underwent a CT scan for acute abdomen or acute febrile symptoms and were diagnosed as having APN; however, their DMSA scans were clear. We focused on these 10 DMSA false-negative patients and analyzed their clinical findings and CT results. We used Philips Brilliance Power 64-channel CT scanner for the CT scan and Siemens Orbitor Nuclear Camera 60 Hz for the DMSA scan. Results : The 10 DMSA false-negative patients were mostly males (80%) and infants (80%). They had fever for a mean of 1.1-day duration before admission and showed increase in acute reactants: leukocyte, erythrocyte sedimentation rate, and C-reactive protein. The CT findings of renal lesions were focal in 6 (60%) cases and diffuse in 4 (40%) cases, and most of the lesions were unilateral in 80% of patients. CT proved that 22 renal lesions were neglected by DMSA. Differential renal function test by DMSA was also of no use in the evaluation of renal lesions. Conclusion : In this study, DMSA scan showed limitation in finding renal cortical lesions of CT-proven APN patients. DMSA false-negative results seem to occur at early-phase disease of infantile age, but more prospective studies are needed to determine the reasons and their prevalence.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.16 no.2
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• pp.171-178
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• 1994

Cystic hygroma remains a complex entity in terms of its development and management. Most recently, cystic hygroma has been categorized as part of a larger spectrum that include lymphangioma. The majorities of lymhangioma occur in the head and neck as cystic hygromas with the posterior cervical region as the most common site. Cystic hygromas usually present in infancy or early childhood as compressible masses that may rapidly and intermittently enlarge. While they may arise in any anatomic location, hygromas of the head and neck are especially difficult and speech pathology. Since as airway obstruction, feeding difficulties, and speech pathology. Since its original description, there have been many attepmts at treatment modalities : surgical excision remains the treatment of choice. Complete extirpation of these lesions is often impossible, and recurrence rates are accordingly high. This is report of a case bout 5-year-old female patient with cystic hygroma, resulted in facial asymmetry and swallowing difficulty, in left submandibular area. We obtained the successful functional and esthetic results by simple surgical excision of tumor mass. Therefore, we represents the case with literatural reviews.

• Journal of the Computational Structural Engineering Institute of Korea
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• v.26 no.5
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• pp.335-342
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• 2013

Since the seriousness of environmental pollution came to the fore recently, various efforts have been made globally for the reduction of the environmental load. In particular, in the field of construction, an industry responsible for a considerable amount of pollution, studies have been actively conducted to reduce $CO_2$ emissions and energy consumption. However, most conventional research about pollution as it relates to construction is focused on the maintenance stages where $CO_2$ emissions are the greatest. Research related to the design stage is in its infancy, as it has only been conducted thus far on steel buildings and RC buildings. In fact, in order to achieve environmentally friendly construction considering the Life Cycle Assessment(LCA), the building design should be derived to reduce the $CO_2$ emissions from the early building design stage, and structural engineers should be able to suggest a design plan considering its environmental friendliness. In this study, optimal structural design method for steel reinforced concrete(SRC) columns considering $CO_2$ emissions is presented. The trends of $CO_2$ emissions in SRC columns according to the variations of steel shapes, concrete strengths and loads are investigated.

• Clinical and Experimental Pediatrics
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• v.48 no.12
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• pp.1317-1323
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• 2005

Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. Results : The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. Conclusion : Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

• Journal of Nutrition and Health
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• v.32 no.5
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• pp.526-532
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• 1999

The aim of this study was to observe whether the dietary supplementation of docosahexaenoic acid(DHA). In growing rats requires extra supplementation of arachidonic acid(AA) for brain development. Sprague-Dawley rats were divided into three groups, each fed a different diet. In the FO group, dams were fed a DHA-rich FO diet during pregnancy and lactation and pups were fed the same diet until 10 weeks old. In the AO group dams and pups were similarly fed a FO diet after weaning. DHA and AA were most effetively deposited in the developing brain during pregnancy and lactation in rats. However, FO-W pups showed significantly lower level of DHA at 0-3 weeks compared with the FO and AO groups and than slowly increased DHA levels to about 87% of other groups at 10 weeks with the introduction of the FO diet after weaning. The total amount of DNA in whole brain rapidly reached a maximum level at 3 weeks and then was sustained at a constant level after 5 weeks of age. The DNA content was positively correlated with DHA level but not with AA level in the developing brain. DNA content was significantly lower in the FO-W group compared to the FO and AO group at 3 weeks of age. However, the DNA content of brain in FO-W pups increased to 80% of the FO group level at 10 weeks after feeding the FO diet after weaning. The relative percentage of AA in brain lipids was significantly reduced in the early stage of brain development when only DHA was supplemented. However, DHA supplementation had no significant effect on the incorporation of AA when the approximately 35% of LA in the FO diet was substituted by preformed AA. These results suggest that large quantities of DHA could interfere with the normal conversion of LA to AA if LA is not supplemented enough together with DHA. Therefore, high DHA supplementation may require preformed AA in the diet even though AA has no significant correlation with the DNA content in brain. DHA supplementation after weaning also improved the incorporation of DHA into brain and content of DNA even though brain development was almost completed, suggesting that a low level of DHA supplementation without AA addition might be necessary to improve brain development during infancy as well as during pregnancy and lactation.

• IMMUNE NETWORK
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• v.22 no.2
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• pp.17.1-17.14
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• 2022

We aimed to investigate associations of dietary diversity (DD) with gut microbial diversity and the development of hen's egg allergy (HEA) in infants. We enrolled 68 infants in a high-risk group and 32 infants in a control group based on a family history of allergic diseases. All infants were followed from birth until 12 months of age. We collected infant feeding data, and DD was defined using 3 measures: the World Health Organization definition of minimum DD, food group diversity, and food allergen diversity. Gut microbiome profiles and expression of cytokines were evaluated by bacterial 16S rRNA sequencing and real-time reverse transcriptase-polymerase chain reaction. High DD scores at 3 and 4 months were associated with a lower risk of developing HEA in the high-risk group, but not in the control group. In the high-risk group, high DD scores at 3, 4, and 5 months of age were associated with an increase in Chao1 index at 6 months. We found that the gene expression of IL-4, IL-5, IL-6, and IL-8 were higher among infants who had lower DD scores compared to those who had higher DD scores in high-risk infants. Additionally, high-risk infants with a higher FAD score at 5 months of age showed a reduced gene expression of IL-13. Increasing DD within 6 months of life may increase gut microbial diversity, and thus reduce the development of HEA in infants with a family history of allergic diseases.

• Journal of Chest Surgery
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• v.35 no.8
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• pp.573-579
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• 2002

Background: In this study, the role and the surgical outcome of the modified Blalock-Taussig shunt in the treatment of the infants with cyanotic complex congenital heart diseases were investigated. Material and Method: Over the last 12 years, 105 modified BT shunts were performed in 100 infants. Postoperative course, shunt patency rate, complications, mortality and its risk factors were reviewed restrospectively. Result: The mean age at operation was 43.0$\pm$36.6 days. Sex ratio was 60:40(M:F). The postoperative oxygen saturations were lowest after mean duration of 11 hours after the shunt procedure. The operative mortality was 8%(8) with 3 late deaths. Causes of operative death included failure of maintenance of minimum oxygenation during the procedure(2), immediate postoperative shunt occlusion(2), respiratory failure(2), low cardiac output due to heart failure and pericardial effusion(2) and sepsis(2). Late deaths resulted from acute cardiac arrest during the follow up cardiac catheterization, hypoxic myocardial failure, and arrhythmia. Year of surgery, shunt size, age at operation, and complexity of the anomalies were not the risk factors for mortality. Six month shunt patency rate was 97% and overall patency rate was 96%. Postoperative complications comprised of shunt occlusion(6), phrenic nerve palsy(3), and wound infection(2). Conclusion: We demonstrated that modified Blalock-Taussig shunt was a useful tool to palliate the infants with complex cyanotic heart disease in whom early complete repair was not feasible with acceptable mortality and patency rate. An adequate postoperative management and a meticulous surgical technique may be key factors for the better results.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.75-80
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• 2005

Purpose : Internal tibial torsion is prevalent in East Asian countries such as Korea and Japan, where sitting on the floor is common behavior. Internal tibial torsion or excessive lateral tibial torsion may cause esthetical, functional, or psychological problems and also may induce degenerative arthritis in older age. The purpose of this study is to measure the tibial torsion in children of the Jeju area. Methods : Tibial torsion was measured in 1,042 lower extremities of 521 children from one to 12 years of age. The values of transmalleolar angles were analyzed for each age group divided by 6 months. Quadratic and linear regression models were used to fit patterns of changes in mean values of transmalleolar angles. The age at seven, which provides the highest coefficient of determination for quadratic regression analysis, was used as a cut-off point to fit different statistical models. Results : The mean transmalleolar angle was $0.10{\pm}5.79^{\circ}$ in all children,$ 0.90{\pm}5.49^{\circ}$ in males, and $-0.80{\pm}5.97^{\circ}$ in females. The value was $4.25{\pm}4.04$ in 1 year of age, gradually decreased to the lowest level of $-1.98^{\circ}$ in four years and seven months of age, increased again with age until it reached $0.67{\pm}1.10^{\circ}$ at seven years of age, and stayed at that level thereafter. Conclusion : Internal tibial torsion in infancy is known to correct spontaneously in the normal developing process. But in this study, the mean transmalleolar angle in children of Jeju area annually decreased after one year of age; to the lowest angle at four years and seven months of age; increased again gradually to the age of seven; and persisted in that level, about $10^{\circ}$ less than western children, not correcting further thereafter. These findings suggest tibial torsion might be caused by lifestyle, especially sitting on feet. To prevent abnormalities of joints and gaits, early diagnosis of tibial torsion in childhood and posture correction or early treatment when needed, seems to be necessary.