• Clinical and Experimental Pediatrics
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• v.48 no.5
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• pp.527-533
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• 2005

Purpose : Long-term administration of anticonvulsants in children with epilepsy may cause short stature, hypocalcemia and low bone mineral density. This study was performed for the early detection of abnormal bone metabolism in children with epilepsy on taking anticonvulsants. Methods : Thirty children aged 5 to 16 years who were diagnosed with epilepsy were enrolled in this study. All had taken anticonvulsants for more than one year. Bone mineral density of lumbar vertebra was measured by dual-energy X-ray absorptiometry. Serum calcium, phosphorous, alkaline phosphatase, 25-hydroxycholecalciferol[$25(OH)D_3$], parathyroid hormone, and urine deoxypyridinoline were measured as biochemical bone markers. Bone age and body mass index were also calculated. Results : Bone minreal density, body mass index, bone age, and height were significantly decreased in two female patients who had taken two antiepileptic drugs for more than four years and they also had chronic diseases such as cerebral palsy with microcephaly, encephalomalacia, and microcephaly with atrial septal defect. Bone mineral density had significant positive correlations with body mass index(P<0.01) and bone age(P<0.01). Conclusion : This study showed chronic medication of anticonvulsants in children may cause low bone mineral density and short stature. Bone age and body mass index could be the important surrogate markers to find the population at risk. More studies, including a large study population and long term cohort study, will be required.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.706-710
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• 2005

Purpose : Early diagnosis of congenital hearing loss through the neonatal hearing screening test minimizes language defect. This research intends to identify frequency of congenital hearing loss in infants through neonatal hearing screening test with the aim of communicating the importance of hearing test for infants. Methods : From May 20, 2003 to May 19, 2004, infants were subjected to Automated Auditory Brainstem Response test during one month of birth to conduct the test with 35 dB sound. Infants who passed the 1st round of hearing test, were classified into 'pass' group whereas those who did not were classified into 'refer' group. Infants who did not 'pass' in the hearing test conducted within one month of birth were subjected to re-test one month later, and if classified as 'refer' during the re-test, they were subjected to the diagnosis for validation of hearing loss by requesting test to the hearing loss clinic. Results : There was no difference among the 'pass' and 'refer' group in terms of form of childbirth, weight at birth and gestational age. In the 1st test, total of 45 infants were classified into 'refer' group. Six among 35 who were subjected to re-test(17%) did not pass the re-test, and all were diagnosed with congenital hearing loss. This corresponds to 0.35%(3.5 per 1,000) among total number of 1,718 subjects. Conclusion : In our study the congenital hearing loss tends to be considerably more frequently than congenital metabolic disorder. Accordingly, newly born infants are strongly recommended to undergo neonatal hearing screening test.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.199-204
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• 2009

Purpose : Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids. Method : We retrospectively analyzed and compared the results of urine organic acid analysis with routine laboratory findings in 278 patients referred for complex febrile seizure. Results : Of 278 patients, 132 had no abnormal laboratory findings, and 146 patients had at least one of the following abnormal laboratory findings: acidosis (n=58), hyperammonemia (n=55), hypoglycemia (n=21), ketosis (n=12). Twenty-six (19.7 %) of the 132 patients with no abnormal findings and 104 (71.2%) of the 146 patients with statistically significant abnormalities showed abnormalities on the organic acid analysis (P<0.05). Mitochondrial respiratory chain disorders (n=23) were the most common diseases found in the normal routine laboratory group, followed by PDH deficiency (n=2) and ketolytic defect (n=1). In the abnormal routine laboratory group, mitochondrial respiratory chain disorder (n=29) was the most common disease, followed by ketolytic defects (n=27), PDH deficiency (n=9), glutaric aciduria type II (n=9), 3-methylglutaconic aciduria type III (n=6), biotinidase deficiency (n=5), propionic acidemia (n=4), methylmalonic acidemia (n=2), 3-hydroxyisobutyric aciduria (n=2), orotic aciduria (n=2), fatty acid oxidation disorders (n=2), 2-methylbranched chain acyl CoA dehydrogenase deficiency (n=2), 3-methylglutaconic aciduria type I (n=1), maple syrup urine disease (n=1), isovaleric acidemia (n=1), HMG-CoA lyase deficiency (n=1), L-2-hydroxyglutaric aciduria (n=1), and pyruvate carboxylase deficiency (n=1). Conclusion : These findings suggest that urine organic acid analysis should be performed in all patients with complex febrile seizure and other risk factors for early detection of inherited metabolic diseases.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

• Clinical and Experimental Pediatrics
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• v.45 no.12
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• pp.1512-1518
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• 2002

Purpose : Twins have a higher mortality and morbidity than singletons. Co-twin with one fetal death is particularly at risk. We investigated the neonatal outcome of live co-twins when one fetus had died after the 20th gestational week, and associated risk factors. Methods : A retrospective study was performed in fifteen cases of twin pregnancy with single intrauterine fetal deaths after the 20th gestational week during the period from January 1996 to December 2000 at Chonnam University Hospital. Results : Gestational age was $33.7{\pm}3.2weeks$, birth weight was $1,992{\pm}592g$. Interval between one fetal death being detected and the delivery of a live co-twin was $32.4{\pm}29.5days$. There were 11 cases(73.3%) of premature babies less than 37 gestational weeks. Main causes of preterm delivery were preterm labor and premature rupture of membranes. Hematologic findings suggesting disseminated intravascular coagulopathy(DIC) were not found in all mothers before delivery, and was not associated with DIC and encephalomalacia of the live co-twin. Perinatal outcome of fifteen live co-twins was as follows : six were normal(40%), three were DIC(20.0%), three were encephalomalacia(20.0%), one suffered intrauterine growth retardation, there was one case of twin to twin transfusion syndrome, and one of congenital heart disease(atrial septal defect with pulmonary stenosis). The occurrence of DIC and encephalomalacia in live co-twins was not related to placental chorionicity, birth weight, gestational week, and the interval between the detection one fetal death and the delivery of a live co-twin. Conclusion : We could not find any maternal hematologic problems in twin pregnancies complicated by one fetal death. Twenty percent of live co-twins showed DIC and encephalomalacia. However, its associated risk factors were not found. We need to investigate more closely the cases of live co-twins with one intrauterine fetal death.

• The Korean Journal of Nuclear Medicine
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• v.32 no.4
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• pp.354-364
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• 1998

Purpose: Simple X-ray study and bone scan have limitations for early diagnosis of bone or bone marrow lesions in multiple myeloma. The purpose of this study was to evaluate the diagnostic usefulness of bone marrow immunoscintigraphy using anti-granulocyte monoclonal antibody for the evaluation of bone involvement in multiple myeloma. Materials and Methods: In 22 patients (Male: 15, Female: 7) with multiple myeloma, we performed whole-body immunoscintigraphy using $^{99m}Tc$-labelled antigranulocyte antibody (BW 250/183, Scintimum $Granulozyt^{(R)}$ CIS, France) and compared the findings with those of simple bone radiography and $^{99m}Tc$-MDP bone scan. Abnormal findings in bone marrow scintigraphy were, considered to be present in case of expansion of peripheral bone marrow or focal photon defect in axial bones. Results: Marrow expansion was noted in 15 of 22 patients (68%). Focal photon defects were found in 18 patients (82%). While one (33%) of 3 patients with Stage II disease showed focal defects in bone marrow scan, abnormal focal defects were observed in 17 of 19 (90%) patients with Stage III. Among 124 focal abnormal sites which were observed in bone marrow scan, bone scan or simple bone radiography, bone marrow scan detected 92 sites (74%), whereas 82 sites (66%) were observed in simple bone radiography(58 sites, 47%) or bone scan(40 sites, 32%). Fifty-one (41%) out of 124 bone lesions were detected by bone marrow scan only, and located mostly in thoracolumbar spine. Conclusion: Bone marrow scan using $^{99m}Tc$-labelled antigranulocyte antibody seems to be a more sensitive procedure for the detection of pathologic bone lesions than simple bone X-ray or bone scan in patients with multiple myeloma.

• The Korean Journal of Nuclear Medicine
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• v.30 no.4
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• pp.493-501
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• 1996

To assess contribution of T1-201 rest-24 hour delay redistribution in detection of viable myocardium, we studied the predictive value of this redistribution in 17 patients who peformed rest-24 hour delay perfusion SPECT before bypass surgery. Regional wall motion was compared with gated SPECT in 10 patients and echocardiography in 7 patients before and after bypass surgery. Rest and 24 hour delayed uptakes were scored from 0 (normal perfusion) to 3 (defect). In rest SPECT, 56 segments showed perfusion decrease. Thirty four segments(61%) improved after surgery and were defined as viable Nineteen(34%) segments had more uptake of T1-201 at 24 hour delay, and the other 37 segments did not. In 81%(25/31) of segments with mildly decreased perfusion, wall motion after bypass surgery improved, 57% (8/14) of segments with severely decreased perfusion improved, and 9%(1/11) of segments with defects improved. In 14 among 19 segments which had more T1-201 uptakes at 24 hour delay, wall motion was improved(positive predictive value of redistribution: 74%). 20 among 37 segments which had persistent decreases in rest-24 hour redistribution improved and 17 did not(negative predictive value: 46%). Segments having severe perfusion decrease or defects showed improved wall motion after surgery in 64%(7/11), if it had redistribution at delay. Segments with either mildly decreased uptake in resting or rest-delayed redistribution showed improved wall motion in 76%(32/42). Among the 14 segments which showed improvement in wall motion, 10 had partial reversibility in stress-rest images and the other 4 had persistent perfusion defects in stress-rest images. These 4 segments were found viable only with rest-24 hour delayed perfusion SPECT. We concluded that rest T1-201 uptake or redistribution at 24 hour delay should be referred as an evidence to warrant postoperative improvement of abnormal wall motion and we could predict myocardial viability with preoperative rest-24 hour delay perfusion SPECT in the segments with rest perfusion decreases.

• Journal of Chest Surgery
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• v.32 no.3
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• pp.237-248
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• 1999

Background: The late results of repair of tetralogy of Fallot(TOF) are favorable in most patients. Some portion of the patients with tetralogy, however, require reoperation for residual lesions or result in late death. The outcome of patients after tetralogy repair performed during the past 13 years was studied, with an emphasis on postrepair survival and problems including reoperations. Material and Method: A retrospective review of clinical, echocardiographic and catheterization data was performed in 569 of 775 patients with TOF who underwent corrective repair between 1983 and 1995 at Sejong General Hospital, Buchon, Korea. Result: Of 28(4.9%) early deaths(defined as 30 days postrepair), 12 deaths(42.9%) were <1 year of age, with an operative mortality of 15.4%. The surviving 541 patients(age 2.8 months to 43.4 years, median 23 months) have been followed up from 1 month to 12.6 years(median 35 months) postoperatively. Most patients were in good functional class and had normal right ventricular(RV) function. Postrepair results were compared between the transatrial-transpulmonary approach and the conventional right ventriculotomy. The former technique provided a lesser incidence of significant pulmonary regurgitation(P<0.001) and alesser degree of RV dysfunction(P<0.05) compared with those in the latter. There were 10(1.8%) late deaths during the follow-up period and 6 of the deaths were directly related to reoperation or ventricular dysfunction. The 10-year actuarial survival rate was 96.7%. There were 44 reoperations(8.1%) in 39 patients(7.2%), with an operative mortality of 10.3%. The main indications or reoperation included residual ventricular septal defect(VSD) (n=6), pulmonary stenosis(PS) (n=11), VSD with PS(n=17), pulmonary regurgitation(n=7), and tricuspid regurgitation(n=2). The 5- and 10-year freedom from reoperation were 89.4% and 76.1%, respectively. Conclusion: Although the majority of patients with repaired TOF are clinically well, with a high rate of survival, approximately 7% of patients have residual lesions that require surgical therapy. Therefore, the timely and meticulous corrective repair is mandatory to avoid reoperation, and continued close surveillance is also needed for the early detection of residual problems.

• Journal of Society of Preventive Korean Medicine
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• v.4 no.2
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• pp.72-92
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• 2000

This research has conducted studies on an Oriental medicine-based method of diagnosing of occupational musculoskeletal system diseases. This researcher has searched through existing relevant medical literature. Also, this researcher has worked on a moire topography using moire topography. In this course, this researcher has reached the following conclusion in relation to the possibility of using a moire topography as a diagnosing device of musculoskeletal system diseases under Oriental medicine . 1 The Western medicine outlines its criteria of screening occupational musculoskeletal system diseases as follows A. The occupational musculoskeletal diseases must clearly include one or more of the subjective symptoms characterized by pain, hypoesthesia dysaesthesia, anaesthesia. etc . B, There should be clinically admitted objective observations and diagnosis outlining that the disease concerned shows symptoms such as tenderness, induration. and edema that can appear with occupational musculoskeletal system diseases. dyscinesia should be admitted with the disease concerned, or there should be observations and diagnosis outlining that abnormality exists in electric muscular or nervous diagnosis and examination . C. It should be admitted that prior to the occurrence of symptoms or observations and diagnosis on musculoskeletal system-related diseases, a patient has been engaged in works with conditions requiring improper work posture or work movement. That is, this is an approach whereby they see abnormality in the musculoskeletal system come from material and structural defect, and adjust and control abnormality in the musculoskeletal system and secreta . 2. The Oriental medicines sees that a patient develops the pain of occupational musculoskeletal diseases as he cannot properly activate the flow of his life force and blood thus not only causing formation of lumps in the body and blocking the flow of life force and blood in some parts of the body. Hence, The Oriental medicine focuses on resolving the cause of weakening the flow of life force and blood, instead of taking material approach of correcting structural abnormality Furthermore , Oriental medicine sees that when muscle tension builds up, this presses blood vessels and nerves passing by, triggering circulation dyscrasia and neurological reaction and thus leading to lesion. Thus, instead of taking skeletal or neurophysiological approach. it seeks to fundamentally resolve the cause of the flow of the life force and blood in muscles not being activated. As a result Oriental medicine attributes the main cause of musculoskeletal system diseases to muscle tension and its build-up that stem from an individual's long formed chronicle habit and work environment. This approach considers not only the social structure aspect including companies owners and work environment that the existing methods have looked at, but also individual workers' responsibility and their environmental factors. Hence, this is a step forward method. 3 The diagnosis of musculoskeletal diseases under Oriental medicine is characterized by the fact that an Oriental medicine doctor uses not only photos taken by himself, but also various detection devices to gather information and pass comprehensive judgment on it. Thus, it is the core of diagnosis under Oriental medicine to develop diagnosing devices matching the characteristics of information to be induced and to interpret information so induced from the views of Oriental medicine. Diagnosis using diagnosing devices values the whole state of a patient and formal abnormality alike, and the whole balance and muscular state of a patient serves as the basis of diagnosis. Hence, this method, instead of depending on the information gathered from devices under Western medicine, requires devices that provide information on the whole state of a patient in addition to the local abnormality information that X-ray. CT, etc., can offer. This method sees muscle as the central part of the abnormality in the musculoskeletal system and thus requires diagnosing devices enabling the muscular state. 4. The diagnosing device using moire topography under Oriental medicine has advantages below and can be used for diagnosing musculoskeletal system diseases with industrial workers . First, the device can Provide information on the body in an unbalanced state. and thus identify the imbalance and difference of height in the left and right stature that a patient can not notice at normal times. Second, the device shows the twisting of muscles or induration regions in a contour map. This is not possible with existing shooting machines such as X-ray, CT, etc., thus differentiating itself from existing machines. Third, this device makes it possible for Oriental medicine to take its unique approach to the abnormality in the musculoskeletal system. Oriental medicine sees the state and imbalance state in muscles as major factors in determining the lesion of musculoskeletal system, and the device makes it possible to shoot the state of muscles in detail. In this respect, the device is significant. Fourth, the device has an advantage as non-aggression diagnosing device.