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A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.2
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    • pp.58-62
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    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

Clinacal investigation of child sexual abuse (소아 성폭력에 관한 임상적 고찰)

  • Lee, Hyun Joo;Han, Hye Jung;Kim, Ji Hee;Lee, Hye Sun;Lee, In Sil
    • Clinical and Experimental Pediatrics
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    • v.50 no.1
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    • pp.20-27
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    • 2007
  • Purpose : Child sexual abuse is a significant and serious problem that affects public health and society. Pediatricians are responsible for preventing and detecting sexual abuse of children. The aim of this study was to examine clinical findings of child sexual abuse. Methods : The authors retrospectively studied 292 patients between the ages of 0 and 18 who were referred for evaluation of sexual abuse to the Emergency Department of the National Police Hospital from Oct 1, 2001 to May 5, 2005. Results : Sixty three (21.6 percent) of sexual abuse victims were younger than 6 years of age; 89 (30.5 percent) were 6-12 years of age; and 104 (47.9 percent) were 12-18 years of age. Attack time was the most common between noon and 6 pm. Victims were attacked in their home or nearby (51.4 percent). One hundred fifty six (53.6 percent) offenders were accquaitances, thirty nine (13.4 percent) of whom were family members. The disclosure of attack by parents with abnormal physical symptoms was more common in younger children than in adolescence. Eighty nine (30.5 percent) victims had no specific physical findings, 51 percent had injury to the hymen, 37.3% had injury to external genitalia, and 4 percent had anal injury. One case of gonorrhea and thirteen cases of chlamydia were found. Sperm was found in 19 cases and acid phosphatase was positive in 28 cases. The absence of physical findings and laboratory findings was more common in younger children than in those in adolescence. The time interval from attacks to hospital visits had a significant negative correlation with age. Conclusion : For younger victims, the time interval from attack to hospital visitis was more prolonged. Victims may have no physical evidence of sexual abuse. Therefore, a careful history should be obtained and a through physical examination should be performed. Pediatricians must play a leading role in evaluation and treatment of sexually abused children, considering children,s growth and development. Coordination with other professionals is necessary to provide consultation, medical treatment, and legal assistance for the sexually abused children and families.

Correlation Between Major Satisfaction and Further Career Choices of the Students in the Department of Health Administration College (일개지역 전문대학 보건행정과 학생들의 전공 만족과 향후 진로 선택의 상관성)

  • Lee, Yeo-Jin;Shin, Joon-Ho
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.13 no.2
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    • pp.725-733
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    • 2012
  • This research, targeting the college students majoring in health administration science in Kwangju & Chonnam, is aimed at understanding their satisfaction with majors according to general, relationship, consciousness, and subject satisfaction, and looking into the correlation between the satisfaction and further career choices. This research set the 270 prospective graduates its study subjects based on convenience sampling. It was found that the number of students who want to choose their further major-related careers as medical records technician was greatest among the research subjects, of whom 62.4% were satisfied with their major subject while there existed a little difference in major satisfaction by further career. In addition, the students who want to choose the career of medical records filer showed higher satisfaction with their major subject than those who want to choose other-major-related careers. In general characteristics among the influential factors of major satisfaction in major-related career choices of a students of health administration science department, the 2nd year classes' major satisfaction was found to be 4.13 times as high as the 3rd year classes while the major satisfaction of the group choosing their major subject spontaneously was found to be 8.04 times as significantly high as the group choosing their major subject involuntarily. As a result of the analysis of the influence on major satisfaction among the sub-province of major satisfaction, it was found that the group having high consciousness satisfaction was 3.93 times as significantly high as the group having low consciousness satisfaction. A logistic analysis of the influence of major satisfaction on further career choices, the major satisfaction of those wishing to choose their major-related career as a medical records technician was 2.06 times as significantly high as those who didn't choose a medical records filer as their career choice while the major satisfaction of the group spontaneously choosing the career of a medical records technician was 4.51 times as significantly high as that of the group involuntarily choosing the career of a medical records technician. There should be a plan for enhancing major satisfaction by each major-related career in consideration of the characteristics of health administration science department having diverse career choices.

A Study on the Setting Process and Formational Characteristics of the Seonyu Eight Scenic in Gogunsan Islands (고군산 선유팔경(仙遊八景)의 설정과정과 집경(集景) 특성)

  • Jung, Woo-Jin;Hwang, Guk-Woong
    • Journal of the Korean Institute of Traditional Landscape Architecture
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    • v.37 no.4
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    • pp.32-50
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    • 2019
  • The present study examines the circumstances around the establishment of the Seonyu Eight Scenic Spots (仙遊八景) in Gogunsan Islands and the characteristics of the landscape of each viewing point. The study conclusions are as follows. First, since the scenic spots were first established in 1969, their content and sequences have been changed several times, and their names have also been changed to some extent. Until the 1970s, these scenic spots did not have official names for them and were often specified as 'Gogunsan Eight Scenic Spots', and excluded 'the Musan Twelve Peaks (巫山十二峰)'. In addition, viewing points of the eight scenic spots varied across periods. This suggests that, for the early form of Seonyu Eight Scenic Spots, the picturesque scenery of Gogunsan Islands, and Seonyudo Island in particular, was chosen, while eight scenic spots in its vicinity were regarded. Second, the Seonyu Eight Scenic Spots of the early 2000s, which has all eight scenic spots of now, follows the nomenclature of the traditional eight scenic spots by specifying the sequence number with a refined name in four syllables. Its first scenic spot was Mangju Waterfall (望主瀑布) and its eighth scenic spot was Seonyu Sunset (仙遊落照); currently, the first scenic spot is Seonyu Sunset and the second scenic spot is Mangju Waterfall. Such change in the sequence of viewing points resulted from differences in representative landscape resources between the periods. Third, the lack of structure and finesse due to continuous changes is directed related to the identity issue of the Seonyu Eight Scenic Spots. Above all, it is unclear by whom and when Seonyu Eight Scenic Spots was established, and there are clear traces of following the eight scenic spots in the neighboring areas such as Okgu (沃溝) and Impi (臨陂)'s Eight Scenic Spots. Moreover, it is evaluated to have an unrefined, incomplete structure due to the lack of clarity in the knowledge and information about viewing objects, when to view, and historical and cultural background. Fourth, the first scenic spot, Seonyu Sunset, has the image that dominates the entire Eight Scenic Spots. The temporary landscape, the sunset, became the best view because it was perceived as the entirety of the landscape created by the fusion of the beautiful natural elements of Seonyudo Island. Therefore, there is ample room for raising the value of other landscape resources of Gogunsan Islands by utilizing the existing perception of exploring the entire landscape of Seonyudo Island and Gogunsan Islands starting with Seonyu Sunset. This likely requires additional work to imbue each viewing point with identity and completion.

Clinical Characteristics of Tuberculous Empyema (결핵성 농흉의 임상적 특성)

  • Shin, Moo Cheol;Lee, Seung Jun;Yoon, Seok Jin;Kim, Eun Jin;Lee, Eung Bae;Cha, Seung Ick;Park, Jae Yong;Jung, Tae Hoon;Kim, Chang Ho
    • Tuberculosis and Respiratory Diseases
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    • v.60 no.5
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    • pp.516-522
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    • 2006
  • Background : In contrast to tuberculous pleurisy, tuberculous empyema is a chronic active infectious disease of the pleural cavity that is frequently accompanied by cavitary or advanced pulmonary lesions. The condition requires long-term anti-tuberculous medication with external drainage. The clinical features and treatment outcome of tuberculous empyema are unclear despite the high prevalence of tuberculosis in Korea. Methods : From January 1991 through April 2004, 17 patients diagnosed with tuberculous empyema in Kyungpook National University Hospital were enrolled in this study. Their medical records and chest radiographs were reviewed. Results : Twelve patients(71%) had a history of tuberculosis and six of the 12 patients were under current anti-tuberculous medication. Productive cough, fever, and dyspnea were the main complaints. There was no predominance between the right and left lungs. Nine patients(53%) had far-advanced pulmonary tuberculosis, two(12%) had a cavitary lesion, and seven(41%) had a pyopneumothorax on the chest radiograph. All eight cases in whom the data of pleural fluid WBC differential count was available showed polymorphonuclear leukocyte predominance. Eight patients(47%) had other bacterial infections as well. The overall rates of a positive sputum AFB smear and culture for M. tuberculosis were 71% and 64%, respectively. The positive AFB smear and culture rates for M. tuberculosis from the pleural fluid were 33% and 36%, respectively. Twelve of the 16 patients(75%) were treated successfully. Three underwent additional surgical intervention. Two patients (12%) died during treatment. Conclusion : Tuberculous empyema is frequently accompanied by advanced pulmonary lesions, and polymorphonuclear leukocytes are predominant in the pleural fluid. Other accompanying bacterial infections in the pleural cavity are also common in tuberculous empyema patients. Therefore, tuberculous empyema should be considered in differential diagnosis of patients with polymorphonuclear leukocyte-predominant pleural effusion. In addition, more active effort will be needed to achieve a bacteriological diagnosis in the pleural fluid.

Sensitivity of Polymerase Chain Reaction for Pleural Tuberculosis according to the Amount of Pleural Effusion Specimens (흉막 결핵의 진단에 있어서 흉수 검체양에 따른 중합효소연쇄반응 검사의 민감도)

  • Moon, Jin Wook
    • Tuberculosis and Respiratory Diseases
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    • v.62 no.3
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    • pp.184-191
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    • 2007
  • Background: For the diagnosis of pleural tuberculosis, polymerase chain reaction (PCR) of pleural effusion specimens has shown very low sensitivity, which might be due to the small number of bacilli in the samples. The purpose of this investigation is to determine whether the sensitivity of PCR testing can be improved when increasing the amount of pleural effusion specimens. Methods: We prospectively analyzed pleural effusion specimens obtained from 53 patients for whom the exclusion of the possibility of tuberculous pleural effusion was necessary. We performed Mycobacterium tuberculosis PCR testing using the Cobas Amplicor MTB test (Roche Diagnostic Systems) with three different amounts (10ml, 25ml, and 50ml) of pleural effusion specimen in each patient. Pleural tuberculosis was defined as having one of the following: culture-positive pleural fluid sample, histopathologic finding consistent with tuberculosis on pleural biopsy, culture-positive sputum specimen, and/or positive response to anti-tuberculous medication without other possible causes of pleural effusion. Results: Of the 53 patients, 26 received the diagnosis of pleural tuberculosis. The sensitivities of AFB smearing, Mycobacterium tuberculosis culture of pleural effusion specimen, pleural biopsy, and measurement of ADA were 3.8%, 15.4%, 84.6%, and 88.5%, respectively. The results of PCR testing were positive for 3 (11.5%), 4 (15.4%), and 3 (11.5%) of the 26 patients when using 10ml, 25ml, and 50ml of pleural effusion specimens, respectively. These results did not show a statistically significant difference in the sensitivity of PCR testing when increasing the amount of pleural effusion samples (p>0.05, symmetry exact test). Conclusion: For specimens such as pleural effusion, in which the bacillary load is very low, the clinical utility of PCR testing seems highly limited with the kits designed for the diagnosis of pulmonary tuberculosis. An increased amount of pleural effusion sample does not improve the sensitivity of PCR testing.

Long-term Prognostic Value of Dipyridamole Stress Myocardial SPECT (디피리다몰 부하 심근관류 SPECT의 장기예후 예측능)

  • Lee, Dong-Soo;Cheon, Gi-Jeong;Jang, Myung-Jin;Kang, Won-Jun;Chung, June-Key;Lee, Myoung-Mook;Lee, Myung-Chul;Kang, Wee-Chang;Lee, Young-Jo
    • The Korean Journal of Nuclear Medicine
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    • v.34 no.1
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    • pp.39-54
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    • 2000
  • Purpose: Dipyridamole stress myocardial perfusion SPECT could predict prognosis, however, long-term follow-up showed change of hazard ratio in patients with suspected coronary artery disease. We investigated how long normal SPECT could predict the benign prognosis on the long-term follow-up. Materials and Methods: We followed up 1169 patients and divided these patients into groups in whom coronary angiography were performed and were not. Total cardiac event rate and hard event rate were predicted using clinical, angiographic and SPECT findings. Predictive values of normal and abnormal SPECT were examined using survival analysis with Mantel-Haenszel method, multivariate Cox proportional hazard model analysis and newly developed statistical method to test time-invariance of hazard rate and changing point of this rate. Results: Reversible perfusion decrease on myocardial perfusion SPECT predicted higher total cardiac event rate independently and further to angiographic findings. However, myocardial SPECT showed independent but not incremental prognostic values for hard event rate. Hazard ratio of normal perfusion SPECT was changed significantly (p<0.001) and the changing point of hazard rate was 4.4 years of follows up. However, the ratio of abnormal SPECT was not. Conclusion: Dipyridamole stress myocardial perfusion SPECT provided independent prognostic information in patients with known and suspected coronary artery disease. Normal perfusion SPECT predicted least event rate for 4.4 years.

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Analysis of Factors Affecting Height Growth After Renal Transplantation in Children (소아 신이식 후의 키 성장에 영향을 미치는 인자들에 대한 연구)

  • Lee Joo Hoon;Lee Byong Sop;Kang Hee-Gyung;Hahn Hyewon;Lee Jun Ho;Ha Il Soo;Cheong Hae Il;Choi Yong;Kim Sang Joon
    • Childhood Kidney Diseases
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    • v.4 no.1
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    • pp.84-91
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    • 2000
  • Purpose: To improve the recovery of growth deficit after renal transplantation in children, we analysed the factors affecting height growth after renal transplantation. Methods: We reviewed medical records of fifty-six children in whom height data were available for three years after transplantation. All height data were converted into Z-scores. We analyzed the effects of sex, age at transplantation, cumulative mean steroid dose for 3 years, serum creatinine levels, height at transplantation, donor source and history of prior dialysis on patients' z-scores and delta Zs. Results: The Z-scores at transplantation were lower in patients of younger age (P=0.007). When baseline Z-scores were lower, the delta Zs were higher (P<0.01), but the Z-scores after transplantation were still lower (P<0.001). According to the analysis of the partial correlation coefficients, Z-scores and delta Zs at 1 year after transplantation were higher in groups of younger age and of lower steroid dosages (P<0.05). The delta Zs at 6 month and 1 year after transplantation were lower in the group with abnormally higher serum creatinine (P<0.05). There was no difference in Z-scores between groups of different genders, donor sources, and histories of previous dialysis. Conclusion: The children of younger age, on lower steroid dosage, with less growth retardation at transplantation, and with normal graft function had better height growth recoveries after renal transplantation.

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Therapeutic Outcome and Recurrence Rate of Helicobacter pylori Infection in Children (소아에서 Helicobacter pylori 감염에 대한 치료결과 및 재발률)

  • Choi, Won-Jun;Kim, Je-Woo;Chung, Ki-Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.1 no.1
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    • pp.37-44
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    • 1998
  • Purpose: This study aimed at evaluating the therapeutic outcome, cost effectiveness and recurrence rate in children with H. pylori infection after the treatment using various medications. Methods: Seventy five children (mean age $11.4{\pm}2.5$ years) were given an endoscopy with biopsy and H. pylori status assessed by CLO test and histologic examination (Warthin Starry stain). Children were given one of following medications such as DA ($Denol^{(R)}$ and amoxycillin), OA (omeprazole and amoxycillin), DC ($Denol^{(R)}$ and clarithromycin) as primary treatment. And one of following medications such as DAM ($Denol^{(R)}$, amoxycillin and metronidazole), DC, OA, OC (omeprazole and clarithromycin) were used in children who failed the eradication of H. pylori. Results: The endoscopic diagnoses were: nodular gastritis (46 cases), gastric ulcer (9), duodenal ulcer (6), superficial gastritis (6), and normal (8). H. pylori eradication rate was 91% (63 of 69 children) on 4 weeks course of DA, 50% (1 of 2 cases who had treatment failure on DA) on DAM, and 75% (3 of 4 cases who treated on DC primarily) and 50% (1 of 2 cases who had treatment failure on DA) on DC, and 100% on OA (all of 2) and on OC (all of 1 who failed on DA). In 3 of 7 children in whom H. pylori had not been eradicated by primary medications (DA 6 and DC 1 case), H. pylori was re-eradicated by secondary medications (DA 1, DAM 1 and DC 1 case). But in remaining 4 cases, H. pylori infection persisted. Reinfection of H. pylori was found in 4 of 75 children between 3 months and 3 years after completion of the treatment of DA, yielding recurrence rate of 5.3%. In 2 of 4 cases who had relapsed, H. pylori was re-eradicated by secondary medications (OC 1 and DA 1 case). But in remaining 2 cases, H. pylori infection persisted. Conclusion: These results suggest that dual therapy with $Denol^{(R)}$ and amoxycillin is the effective medications in treating H. pylori infection in children. Concerning the cost effectiveness, it can be recommended as first line treatment of choice as well.

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현대여성(現代女性)의 의복의식(衣服意識)에 관한 조사(調査) 연구(硏究) - 서울 지역(地域)의 양복(洋服) 착용자(着用者)를 중심(中心)으로 -

  • Lee, Hee-Myung
    • Journal of the Korean Society of Costume
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    • v.2
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    • pp.73-88
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    • 1978
  • This article is an attempt to explain, at least in part, the contemporary Korean women's consciousness of Western Dreasses. As time changes, the role of clothing undergoes varisous transitions, while values and ways of life are constantly in change. It is, therefore, proper and appropriate to recognize as among the major aspects of social psychology such phenomenon as interests, understanding of clothing, the choice of a dress, and attitudes toward clothing, etc. The purpose of this study is to discover problems concerning and their clothing and their solutions, by means of a surveying approach. The method of research used is based upon questionares distributed to parents of first-year pupils in elementary schools and to female clerks working in offices, covering the period from August through October, 1976. The number of the questionares distrubuted totalled 600, and 526 were returned to the research to be utilized for analysis. The contents of the survey included such things as values concerning clothing, kinds of clothing and their practical use, the selection of clothing and the method of purchase, fashions, etc. The classification of aquisition are self-made clothing, clothing made to order and ready-made materials. It is composed of 25 items, including affirmative reasons as well as negative ones. The processing of the material returned was made by using the computer, and based upon classifications such as ages, monthly income, occupations; thus diagraming the result in percentages. The conclusion made and the improvements proposed are as follows: 1. The values of clothing were placed on the expression of the wearer's personality (32.7) and on eauty(28. 6%). The lower age group places is stress upon the expression of personality, while the higher age group stresses beauty. About 50% of wearers are contented with their clothing, their clothing, the rest of whom them indicating their dissatisfaction with what they wear. As to designs at the time of selection, about 46% indicated their preference of personal expression, 31.8% on usefulness. In selecting material, practicality is emphasized; in selecting patterns, single color is preferred. In short, personal expression and esthetic values are primary, with consideration of practicality in mind. 2. The classification of clothing according to their uses indicates the highest numbers in normal wear (home wears) and clothings to be worn outside home. As to evening dresses, (party dress) only one or two articles were checked by many, and no such article was clamed to be possessed by most. The highest ratio of wearing was shown in the case of home wear (47.3%) and clothing to be worn outside the home, which is 55.8%. The budget for one article of clothing was greatest in the case of home wear, and clothing worn outside the home. Many used both kinds of articles for the same purpose. It is desirable, therefore, that the kinds of clothing should be varied according to the purpose for which they are worn, and that clothing appropriate for that purpose should be worn. 3. The motivation for purchasing clothing was highly chosen in the item of seasonal change, which was 55.7%; Clothing deliberately made was indicated by 45.2%. In the mothods of purchasing clothing, clothing made to order and ready-made was indicated by 44.4%, which is the highest; Clothing made to order was 25.4%, and self-sewing was 1.1%, which is the lowest. (1) In the case of self-sewing, "I like it but it is very hard," was checked by 43.6%; "It is so difficult that I cannot wear such clothing" was checked by 13.3%. From these, we can conclude that the questionees are willing to make clothing by themselves, but techniques involved in sewing and at her problems involved in the skill are complicated but when those problems are eliminated there is a possibility for practice. The response checked by questionees concerning the self-sewing was, "It's economical", which is a clear indication that many questionees are positive for self-sewing. It is generally believed that ready-made clothing is cheaper, but it is not necessarily so. In consideration of the quality of clothing, self-sewing is a necessity, and it is desirable that it should be encouraged. (3) Problems involved in ready-made clothing, such as designs, skills, size (fitting) should be eliminated. When these problems are scientifically gotten rid of, it is possible that affirmative returns will be expected. Affirmative responses such as "Ready-made clothing is economical," "You can select there on the spot," are good signs that many women expect to wear ready-made clothing. It is in this sense that the prospect for ready-made clothing is brighter when much development for ready-made clothing is on the way. 4. Much concern for fashion are checked in such item of questions as "Fashionable clothing in the show window," "Clothes worn by women." The first item was checked by 50.1 %, and the second was checked by 48.6%. The reason for following fashion is "Because many people wear them," which was indicated by 30.4%. The reason for not following fashion is "It is too expensive," which was checked by 29.6%. The 26.2% of the answers indicated that "Fashionable clothing is devoid of personality," The influences of fashion over the development of fashion over the development of clothing are two-fold: Esthetic and active. It is not to be deniable that people follow fashion more or less. 1978.9>

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