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

• Journal of Yeungnam Medical Science
• /
• v.22 no.1
• /
• pp.52-61
• /
• 2005

Background: Guillain-Barre syndrome is defined as a recognizable clinical entity that is characterized by rapidly evolving symmetric limb weakness, the loss of tendon reflexes, absent or mild sensory signs, and variable autonomic dysfunctions. This study evaluated the clinical and electrophysiological findings retrospectively. Materials and Methods: Forty-five patients with Guillain-Barre syndrome, who were admitted to the Yeungnam University Hospital for six years from Jan. 1994 to Dec. 1999 were investigated. The correlation between the clinical manifestation and the electrophysiological study was evaluated. Results: The male to female ratio was 1.8:1 and there was a peak seasonal incidence in the winter. A preceding illness was noted in 66.7 % of cases, and an upper respiratory tract infection was the most common one. The most common clinical manifestations were a loss of tendon reflex and ascending muscle weakness and paralysis. The cerebrospinal fluid examinations revealed, albuminocytologic dissociation in 33 cases (73.3 %). Intravenous immunoglobulin therapy was performed in 29 cases (64.4 %). The sequential electrophysiological abnormalities were most marked at 2 to 4 weeks after onset. At that time the most significant change was a decrease in the compound muscle action potential amplitude. These 45 patients with Guillain-Barre syndrome were subclassified using the clinical and electrophysiological data. Conclusion: The result in this study, concured with other research on the clinical and electrophysiological data of Guillain-Barre syndrome. However, an extensive and dynamic investigation is necessary to determine the reason for the peak seasonal incidence in winter.

• The Journal of Korean Academy of Sensory Integration
• /
• v.9 no.2
• /
• pp.51-60
• /
• 2011

Objective : The characteristics of physiological responses of ADHD children to sensory stimulation were examined by types of sensory stimulation, measurement tools, and responses. In addition the behavioral characteristics were examined by analyzing items of common problems according to the measuring tool, frequency, and measurement tools. Methods : A systematic review methods were used. Papers published in the Journal between January, 1990 and December 31, 2011 were searched through Riss4U, MEDLINE /PubMed, CINAH. The main terms searched were "ADHD, Children, Sensory processing, Sensory integration, SP, SSP, SOR, TIE, CSP, SEP, EDR", and 15 papers were analyzed. Results : 1. The number of studies on physiological responses of children with ADHD to sensory stimulation was five (33.33 percent), the number of studies on behavioral responses was ten(66.67%), and the number of studies combined the two kinds of study was two (13.33%), where a total of 15 (100%) papers were analyzed. 2. In five studies on the physiological response, there were three studies using tactile and proprioceptive stimulations and two studies using olfactory, auditory, visual, tactile, and vestibular sensories. 3. In ten studies on the behavioral responses, there were five studies using SP, three studies using SSP, two studies using SOR, one study using TIE, and one study using CSP. Conclusion : In the characteristics of physiological responses of children with ADHD children to sensory stimulation, there was in the action potential of the cells in hand region of the primary sensorimotor cortex neurons. It was analyzed that there was an initial state and it appeared show a obvious and fast habituation in the later state; the time of recovery seemed to have many non-specific responses. In the characteristics of behavioral responses, there were inattention / distraction, vestibular processing, sensory processing related to endurance / tone, modulation of sensory input affecting emotional responses, low energy/weak.

• Childhood Kidney Diseases
• /
• v.3 no.2
• /
• pp.196-202
• /
• 1999

Purpose : When the mature kidney fails to reach its norml location in the renal fossa, the condition is known as ectopic kidney. Presenting symtoms can be various and it generally depend on the associated anomaly. Beside urologic anomalies such as hydronephrosis and vesicoureteral reflux, various anomalous vascular net work, skeletal anomaly or genital anomaly can be observed in this condition. Methods : Sixteen children with ectopic kidney was studied retrospectively to analyse initial presentation, accompanied anomaly and prognosis. Results : 56% of the children were accompanied with other urologic anomalies such as true incontinence and vesicoureteral reflux that required surgical treatment. 31% of children were either diagnosed incidentally during evaluation of other non-urologic disease or during follow-up evaluation of abnormal antenatal renal sonogram. Conclusion : Ectopic kidney can be often misdiagnosed as tumorous condition or as a surgical condition depend on the abnormal location of the kidney. Careful evaluation using abdominal sonogram, DMSA, VCUG and abdominal CT scan should be performed in order to search for associated anomalous condition and for proper management.

• Journal of Chest Surgery
• /
• v.31 no.12
• /
• pp.1183-1194
• /
• 1998

Background: From Sept. 1985 to Sept. 1997, 2,000 cases of open heart surgery(OHS) were performed in the Department of Thoracic & Cardiovascular Surgery, Pusan Paik Hospital, College of Medicine, Inje University. Material and Method: Among the total of 2,000 cases of OHS, 1532 cases were congenital heart disease(CHD) and 468 cases were acquired heart disease(AHD). The age distribution was 9 days(4.0kg) to 68 years in CHD and 11 to 66 years in AHD. In 1532 cases of CHD, there were 1403 acyanotic cases and 129 cyanotic cases. Result: The CHD cases consisted of 940 ventricular septal defects(61.4%), 324 atrial septal defects(21.1%), 112 tetralogy of Fallot(7.3%), 46 pulmonary stenosis(3%), 38 endocardial cushion defects(2.5%), 15 valsalva sinus ruptures(1%), 4 transposition of great arteries (0.3%), 4 double outlet right ventricles(0.3%), and etc. Corrective operations were applied for congenital heart disease with a result of 3.1% hospital mortality. Of 468 AHD, 381 cases were valvular heart diseases, 48 ischemic heart diseases, 12 cardiac tumors, 8 annuloaortic ectasias, 16 dissecting aortic aneurysms and etc. In the 381 valvular heart diseases, there were 226 single valve replacements(36 aortic valve replacements(AVR), 188 mitral valve replacements(MVR), and 2 tricuspid valve replacements(TVR), among these were 71 cases of double valve replacements(AVR & MVR), 54 cases of MVR with tricuspid valve annuloplasty(TVA), and 18 cases of AVR, MVR with TVA. The total implanted prosthetic valves were 466. In MVR, 123 St. Jude Medical valves, 90 Carpentier-Edwards valves, 65 CarboMedics valves, 42 Sorin valves and 16 other valves were used. In AVR, 68 St. Jude Medical valves, 36 CarboMedics valves, 14 Carpentier-Edwards valves and 9 other valves were used. Coronary Artery Bypass Surgery(CABG) were performed in 48 cases. The patterns of bypass graft were 14 patients of single vessel graft, 21 patients of two vessels graft, 10 patients of three vessels graft and 3 patients of four vessels graft. Conclusion: The hospital operation mortality rate of congenital acyanotic, cyanotic and acquired heart diseases were 2.0%, 15.5%, and 5.1% respectively. The overall mortality rate was 3.6%(72/2,000).

• Journal of the Korean Arthroscopy Society
• /
• v.12 no.3
• /
• pp.198-204
• /
• 2008

Purpose: The purpose of this study is to analyze the merits and demerits of double bundle reconstruction and achieve improvements hereafter, by comparing the results of double bundle and single bundle reconstruction using tibialis anterior allograft. Materials and Methods: Twenty seven patients were divided to undergo either double bundle(n=14) or single bundle(n=13) reconstruction with tibialis anterior allograft tendon. The evaluation methods were AP laxity with KT-2000 arthrometer, isokinetic knee strength measurements, pivot-shift test, IKDC subjective score, Lysholm knee score, Tegner activity score, radiographic evaluations with postoperative MRI, and second look arthroscopy. Results: Lysholm knee score and Tegner activity score were significantly better in double bundle reconstruction. In pivot-shift test, single bundle reconstruction was evaluated as grade 0 in 10 of the knees, grade 1 in 1, and grade 2 in 2. Double bundle reconstruction was evaluated as grade 0 in 13, and grade 2 in 1. In second look arthroscopy, single bundle was evaluated as excellent in 6 of the knees, fair in 7, anteromedial bundle of double bundle reconstruction was excellent in 13 and fair in 1, and posterolateral bundle was excellent in 4, fair in 9, and poor in 1. There were no significant differences in other evaluations. Conclusion: Favorable outcome may be expected with double bundle reconstruction of ACL. However there are still need for improvement in terms of reconstruction technique and rehabilitation protocol to reduce PL bundle injury.

• Radiation Oncology Journal
• /
• v.20 no.2
• /
• pp.186-192
• /
• 2002

Purpose : Measurement of transmission dose is useful for in vivo dosimetry. In this study, previous algorithm for estimation of transmission dose was modified for use in cases with tissue deficit. Materials and Methods : The beam data was measured with flat solid phantom in various conditions of tissue deficit. New algorithm for correction of transmission dose for tissue deficit was developed by physical reasoning. The algorithm was tested in experimental settings with irregular contours mimicking breast cancer patients using multiple sheets of solid phantoms. Results : The correction algorithm for tissue deficit could accurately reflect the effect of tissue deficit with errors within ${\pm}1.0\%$ in most situations and within ${\pm}3.0\%$ in experimental settings with irregular contours mimicking breast cancer treatment set-up. Conclusion : Developed algorithm could accurately reflect the effect of tissue deficit and irregularly shaped body contour on transmission dosimetry.