• Clinical and Experimental Pediatrics
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• v.51 no.3
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• pp.315-322
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• 2008

Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone (GH) therapy between these two PWS genotypes was analyzed. Methods : Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15). Results : Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy. Conclusion : Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.92-95
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• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• Childhood Kidney Diseases
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• v.18 no.2
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• pp.71-76
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• 2014

Purpose: Attention deficit hyperactivity disorder (ADHD) has been associated with impairments in frontal inhibitory function and the catecholaminergic system. ADHD is diagnosed in 3-5% of children. Children with ADHD seem develop various forms of urinary problems such as nocturnal enuresis, dysfunctional voiding, and diurnal incontinence. However, no data exist to confirm the presence of these problems in Korean children with ADHD. We investigated the clinical findings of voiding dysfunction in children with ADHD. Methods: Between October 2009 and March 2011, a total of 63 children (33 with ADHD, 30 with an upper respiratory infection, as a control group) were enrolled. ADHD was diagnosed using the diagnostic and statistical manual of mental disorders (DSM)-IV criteria. A comprehensive survey of voiding and defecation was administered. Results: The patient group included 28 boys and 5 girls; the control group comprised 20 boys and 10 girls. The mean age was $9.09{\pm}2.8$ years in the ADHD group and $8.58{\pm}3.1$ years in the control group. Children with ADHD had a statistically significantly higher incidence of urgency (P =0.017), urge incontinence (P =0.033), and constipation (P =0.045). There was no significant difference in the incidence of straining, intermittency, holding maneuvers, or nocturnal enuresis. Conclusion: Children with ADHD in Korea have significantly higher rates of urgency, urge incontinence, and constipation than those without ADHD.

• Childhood Kidney Diseases
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• v.14 no.2
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• pp.154-165
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• 2010

Purpose : We know little about the natural course of IgA nephropathy (IgAN) in association with histologic changes especially in children. We investigated clinicopathologic features with long-term follow-up biopsy to clarify the outcomes and prognostic indicators for childhood IgAN. Methods : From our patients' medical records, we retrieved 20 patients with IgAN, to whom renal biopsies had been performed for the initial diagnosis and follow-up to find out any histologic changes. Initial and follow-up biopsies were classified by Haas classification. The changes of these parameters were compared with the evolution of clinical features. Results : Patients were treated with angiotensin-converting enzyme inhibitors in combination with angiotensin receptor blockers (in subclass II or above) and short-term cyclosporine A(in patients showing nephrotic syndrome). Histologic improvement in 7 cases and deterioration in 3 cases were observed. At the time of last biopsy, 10 cases (50%) showed clinical remission and the others showed improved clinical features. These clinical outcomes did not correlate with initial Haas classifications. Hypertension at onset observed in 5 cases (25%) revealed significant correlation with clinical outcome (P =0.01) and last Haas classification (P =0.007). None of the cases showed progression to CRF or ESRD. Conclusion : During a mean follow-up of $10.8{\pm}3.4$ years, childhood IgAN showed good clinicopathologic outcome. Hypertension at onset was only a strong predictor of clinicopathologic outcomes, but initial Haas classification cannot predict outcomes in children. Histologic change of IgAN in long term follow-up period cannot be completely predicted by clinical data and vice versa. Therefore, a renal biopsy should be considered as a part of follow-up plan.

• Tuberculosis and Respiratory Diseases
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• v.64 no.5
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• pp.356-361
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• 2008

Background: We wanted to examine the clinical characteristics of adult patients with tracheobronchial foreign bodies (FBs) according to the risk of aspiration and the outcomes of intervention with using a fiberoptic bronchoscope. Methods: From December 1994 through December 2004 at Kyung Hee Medical Center, we retrospectively analyzed the medical records of 29 adult patients with FBs that were identified by using a fiberoptic bronchoscope. Results: 14 patients were not at risk of aspiration, whereas 15 had cerebrovascular diseases and they were at a high risk of aspiration. No history suggestive of FB aspiration was noted in 7 (24.1%) patients. Respiratory symptom(s) were noted in 22 patients, and these symptoms were cough (62.0%), dyspnea (44.8%), fever (20.7%), wheezing (13.8%), chest pain (10.3%) and hemoptysis (0.4%). Only 60% of those patients at a high risk of aspiration had symptom(s) (92.8% of those patients without a risk of aspiration had symptoms, p=0.005). Those patients at risk for aspiration had a longer duration of symptoms (median: 4 days vs. 2 days for those patients not at risk for aspiration, p=0.007) before diagnosis. Acute respiratory symptom(s) within 3 days after aspiration were more frequent in the patients without a risk of aspiration (9 vs. 4, respectively p=0.048). Chest x-ray revealed radiological abnormalities in 23 patients, and these were opacities suspicious of FB (n=11), pneumonia (n=8), air trapping (n=5) and atelectasis (n=3). There were no differences in radiological findings according to the risk of aspiration. FB aspiration developed most commonly during medical procedures (57.1% for the patients at risk) and during eating (35.7% for the patients without risk). The most common FB materials were teeth (n = 11). Alligator jaw biopsy forceps (n = 23) was the most commonly used equipment. All of the FBs were removed without significant complications. Conclusion: This study underlines that a tracheobronchial FB in the patients who are at a high risk of aspiration are more likely to overlooked because of the more gradual onset of symptoms and the symptoms develop iatrogenically in many cases.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.64-71
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• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• The Korean Journal of Nuclear Medicine Technology
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• v.25 no.2
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• pp.29-34
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• 2021

Purpose Sample reception environment system in nuclear medicine has not changed much compared to 20 years ago. When preparing sample for in vitro test, there was no significant change because the test was carried out by generating an own specimen from the parent specimen. In this study, We would like to introduce a method that automatically removes the sample cap using the automated decapper equipment and enables automatic reception at the same time. In addition, including a provisional reception system. Materials and Methods In 2019, it was intended to get a device that automatically removes the cap of a patient's blood sample. This equipment is the same as the equipment used in the Department of Laboratory Medicine (Vacuette Ⓡ Unicap Belt Decapper, Greiner bio-one, Austria). However, the purchase was delayed due to differences in tube size, budget, and space. In January 2020, we borrowed domestic automatic decapper equipment and modified it to suit our laboratory environment. After 9 months, we were able to introduce a system that automatically removes the lid of a patient's blood sample and at the same time automatically accepts the test. And, through the provisional reception system, it was possible to know the arrival of the specimen in a short time. Results With the use of an automatic decapper device, the sample cap was automatically removed, and the reception proceeded at the same time. So, it was very efficient at work because it shortened the sample preparation time by about 20 minutes. In addition, it was possible to prevent the examiner's musculoskeletal disorders caused by repeated wrist use. After using the provisional reception system, patients were able to be discharged quickly, and the number of phone calls to confirm the arrival of samples was reduced. Conclusion Most hospitals have about four employees in the nuclear medicine in vitro laboratory. It is effective to use automatic decapper equipment and a provisional reception system for organizations that perform work with the minimum number of personnel.

• Journal of Yeungnam Medical Science
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• v.24 no.1
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• pp.41-54
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• 2007

Background : The causes of chest pain vary but the leading cause of chest pain is ischemic heart disease. Mortality from ischemic chest pain has increased more than two fold over the last ten years. The purpose of this study was to determine the data necessary for rapid treatment of patients with signs and symptoms of ischemic chest pain in the emergency department (ED). Materials and Methods : We interviewed 170 patients who had ischemic chest pain in the emergency department of Yeungnam University Hospital over 6 months with a protocol developed for the evaluation. The protocol used included gender, age, arriving time, prior hospital visits, methods of transportation to the hospital, past medical history, final diagnosis, and outcome information from follow up. Results : Among 170 patients, there were 118 men (69.4%) and the mean age was 63 years. The patients diagnosed with acute myocardial infarction (AMI) were 106 (62.4%) and with angina pectoris (AP) were 64 (37.6%). The patients who had visited another hospital were 68.8%, twice the number that came directly to this hospital (p<0.05). The ratio of patients who visited another hospital were higher for the AMI (75.5%) than the AP (59.4%) patients (p<0.05). The median time spent deciding whether to go to hospital was 521 minutes and for transportation was 40 minutes. With regard to patients that visited another hospital first, the median time spent at the other hospital was 40 minutes. The total median time spent before arriving at our hospital was 600 minutes (p>0.05). The patients who had a total time delay of over 6 hours was similar 54.8% in the AMI group and 57.9% in the AP group (p>0.05). As a result, only 12.2% of the patients with an AMI received thrombolytics, and 48.8% of them had a simultaneous percutaneous coronary intervention (PCI). In the emergency department 8.5% of the patients with an AMI died. Conclusion : Timing is an extremely important factor for the treatment of ischemic heart disease. Most patients arrive at the hospital after a long time lapse from the onset of chest pain. In addition, most patients present to a different hospital before they arrive at the final hospital for treatment. Therefore, important time is lost and opportunities for treatment with thrombolytics and/or PCI are diminished leading to poor outcomes for many patients in the ED. The emergency room treatment must improve for the identification and treatment of ischemic heart disease so that patients can present earlier and treatment can be started as soon as they present to an emergency room.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.136-146
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• 2001

Purpose : One of the most difficult problems in the care of children with nephrotic syndrome remains the occurrence of relapses, despite initial response to steroids. Constantinescu reported that rapidity of initial response to steroid therapy could predict fewer relapses in the first year. So we evaluated the changes in serum lipid abnormalities in children with corticosensitive nephrotic syndrome before steroid treatment and the correlation between serum lipid levels and renal function, days to remission. Methods . We analyzed the Medical records of children who were managed by us between October 1994 and August 2000. In 33 patients with corticosensitive nephrotic syndrome, we evaluated the correlation between serum lipid levels and renal function [Creatinine clearance(Ccr)] and proteinuria before steroid treatment, and days to remission defined as the third day when the patient's urine becomes protein free. Results : There were 21 males and 12 females. Median age at presentation was 6.4 years (range: 1.8-17.3 years). Median days to remission were 15.4 days (range 4-42 days) on Prednisolone $60mg/m^2$ daily. The increased levels of triglyceride, total cholesterol, LDL cholesterol, apolipoprotein B, total cholesterol/HDL cholesterol, Lipoprotein(a) were observed. But the level of HDL cholesterol was not increased. Serum albumin was decreased a]id proteinuria was increased before steroid treatment. But Ccr was not decreased. There were negative correlation between serum albumin and total cholesterol (r = -0.5157, P<0.005), LDL cholesterol (r = -0.5543, P<0.005), total cholesterol/HDL cholesterol (r = -0.4506, P<0.01), lipoprotein(a) (r = -0.4570, P<0.025), apolipoprotein B (r = -0.5297, P<0.025), apolipoprotein B/apolipoprotein Al (r = -0.5851, P<0.01), apolipoprotein B/HDL cholesterol (r = -0.4961, P<0.05) before steroid treatment. There was no correlation between proteinuria and serum lipid profiles. Also Ccr and serum lipid profiles were not correlated. There was positive correlation between days to remission and HDL cholesterol (r = +0.4511, P<0.05), apolipoprotein B (r = +0.5190, P<0.05), apolipoprotein B/HDL cholesterol (r = +0.7169, P<0.005). Conclusions : This results reveal that HDL cholesterol, apolipoprotein B and apolipoprotein B/HDL cholesterol can be used as a predictive factor in corticosensitive nephrotic syndrome. We could not determine the significant level of these lipids for insufficient patients number, but these level may predict future relapses of corticosensitive nephrotic syndrome patients and thus may allow to better management and treatment protocols. More data and long term follow up studies should be needed. (J Korean Soc Pediatr Nephrol 2001;5 : 136-46)

• Tuberculosis and Respiratory Diseases
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• v.54 no.1
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• pp.57-70
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• 2003

Background : Small cell lung cancer represents approximately 20% of all carcinomas of the lung, and is recognized as having a poor long term outcome compared to non-small cell lung cancer. Therefore, this study investigated the prognostic factors in small cell lung cancer patients in order to improved the survival rate by using the proper therapeutic methods. Material and method : The clinical data from 394 patients who diagnosed with small cell lung cancer and treated from 1993 to 2001 at the Kosin University Gospel Hospital, were analyzed. Result : There were 314 male patients (79.7%), and 80 female patients (20.3%). The number of those with limited disease was 177 (44.9%), and the number of those with extensive disease was 217 (55.1%). Overall, 366 out of 394 enrolled patients had died. The median survival time was 215 days (95% CI : 192-237days). The disease stage, Karnofsky performance state, 5% body weight loss for the recent 3 months, chemotherapy regimens, and the additive chest radiotherapy were identified as being statistically significant factors for the survival time. The median survival times of the supportive care group, one anticancer therapy, and two or more treatment groups were 17 days, 211 days, and 419 day, respectively (p<0.001). These data emphasize the importance of anticancer treatment to improve survival time for patients. The group of concurrent chemoradiotherapy (30 patients) showed significantly longer survival time than the group given sequential chemoradiotherapy (55 patients) (528 days versus 373 days, p=0.0237). The favorable prognostic factors of laboratory study were groups of leukocyte =8,000/mm3, ALP=200 U/L, LDH=450 IU/L, NSE=15 ng/mL, s-GOT=40 IU/L. In extensive disease, there was no difference according to the number of metastatic site. However, the median survival time of patients with ipsilateral pleural effusion had longer than patients having other metastatic sites. According to the survey periods, three groups were divided into 1993-1995, 1996-1998, and 1999-2001. The median survival time was significantly prolonged after 1999 in comparison to previous groups (177 days, 194 days, 289 days, p=0.001, 0.002, respectively). Conclusion: Disease stage and 5% body weight loss for recent 3 months at diagnostic state were significant prognostic factors. In addition, the performance status, serum ALP, LDH, NSE, CEA levels also appear to be prognostic factors. The survival time of those patients with small cell lung cancer has been prologned in recent years. It was suggested that the used of the EP (etoposied and cisplatin) chemotherapy method and concurrent chemoradiotherapy for patients with a limited stage contributed to the improved survival time.