• Title/Summary/Keyword: 선천적

Search Result 1,008, Processing Time 0.027 seconds

Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients (복합 열성경련 환자의 소변 유기산 분석에서 나타난 유전대사질환)

  • Cheong, Hee Jeong;Kim, Hye Rim;Lee, Seong Soo;Bae, Eun Joo;Park, Won Il;Lee, Hong Jin;Choi, Hui Chul
    • Clinical and Experimental Pediatrics
    • /
    • v.52 no.2
    • /
    • pp.199-204
    • /
    • 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.

THE COMORBIDITY AND EMOTIONAL STATE OF THE ENURETIC CHILDREN (유뇨증 소아의 공존질병 및 정서상태)

  • Lee, Kyu-Kwang;Shin, Yun-O;Lee, Tae-Yong
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
    • /
    • v.8 no.1
    • /
    • pp.34-42
    • /
    • 1997
  • Enuresis is repeated involuntary or intentional voiding of urine into bed or clothes over age 5. Though it would be a self-remitting disorder, it could be serious problem in emotional and socio-adaptational aspects. The author reviewed the enuretic patients of Child & Adolescence psychiatric section in Chungnam National University Hospital during past 3 years. 46(4.9%) of 936 patients were diagnosed as enuresis in DSM-Ⅳ. The author evaluated their comorbidity by the data of diagnostic review made in two psychiatrists, and emotional aspects(self-concept, anxiety, depression) through the self-rating scales (Piers-Harris children’ self concept scales, RCMAS, state-trait anxiety inventory for children, child’s depresson inventory). Thirty(65.2%) of the 46 enuretic patients had additional diagnoses such as attention deficit hyperactive disorder, mental retardation, encopresis, oppositional defiant disorder, depression, anxiety disorder, autism, somatoform disorder, tic disorder, obsessive-compulsive disorder, sleep disorder, etc. Sixteen enuretic patients had at least one comorbid disorder. Eleven patients had two, and three patients had more than three. Fourteen of 46 enuretic patients were evaluated through self-rating scales of self-concept, anxiety and depression. But we couldn’t obtain meaningful results. Maybe it was due to the small sample size(N=14) and the influence of the comorbid disorders. Finally, it was an impressive evidence that there exist many comorbid disorders in enuresis(esp. attention deifict/hyperactive disorder). In emotional aspects, the author thought that further evaluation should be needed for more meaningful results.

  • PDF

Clinical features and surgical results of ruptured sinus of valsalva aneurysm (발살바동 동맥류 파열의 임상적 고찰)

  • Lee, Tae Ho;Lee, Dong Won;Cho, Joon Yong;Hyun, Myung Chul;Lee, Sang Bum
    • Clinical and Experimental Pediatrics
    • /
    • v.49 no.3
    • /
    • pp.287-291
    • /
    • 2006
  • Purpose : Aneurysms of sinus valsalva are rare anormalies thought to be primarily congenital in origin, progressing into death by acute heart failure in cases of rupture. Surgical correction is the only method of treatment. With these clinical implications, we reviewed the clinical characteristics and surgical results of patients with ruptured sinus of valsalva aneurysm. Methods : Between January 1991 and February 2004, 17 patients with ruptured sinus of valsalva aneurysm were retrospectively reviewed for their clinical symptoms, physical findings, past history, coexistent cardiac anormalies, surgical results, and mid-term prognosis. Results : The 17 patients included 13 men and four women, with a mean age of 30 years(10-59 years). Preoperatively accompanying cardiac anormalies were ventricular septal defect(VSD, eight cases of doubly committed juxta-arterial VSD) and aortic insufficiency(11 cases). During operations, patterns of fistulous tracts were found to be right colonary sinus-right ventricle in 13 patients, right coronary sinus-right atrium in one, noncoronary sinus - right ventricle in two, noncoronary sinus - right atrium in one, and VSD was noticed in 14 patients(all were doubly committed juxta-arterial in type). The defects were closed with a patch in 13 patients, without a patch in four, with concommitant aortic valve replacement in four and with aortic valvuloplasty in two. There were no mortalities during operations or the mid-term follow-up periods($40{\pm}49$ months). Conclusion : Because, at least in Orientals, VSD(especially doubly committed juxta-arterial) was accompanied in large numbers of patients with aneurysms of sinus valsalva, preoperative evaluations of this congenital heart disease should be made very careful. And we may need to revise the algorithm of treatment policy in small sized doubly committed juxta-arterial VSD.

The usefulness of diagnostic tests in children with language delay (언어 발달지연 환아에서 진단적 검사의 유용성)

  • Oh, Seung Taek;Lee, Eun Sil;Moon, Han Ku
    • Clinical and Experimental Pediatrics
    • /
    • v.52 no.3
    • /
    • pp.289-294
    • /
    • 2009
  • Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

Clinical Analysis of Recurrent Intussusception and the Pathologic Lead Point in a Single Center (단일 병원에서의 재발성 장중첩증과 병적 선두에 대한 임상적 고찰)

  • Lee, Kun-Song;Park, Yun-Joon
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.12 no.2
    • /
    • pp.163-170
    • /
    • 2009
  • Purpose: Intussusception is the most common cause of intestinal obstruction in young children. Although intussusceptions are easily treated, some intussusceptions with or without a pathologic lead point (PLP) often recur. In this study, we analyzed the clinical characteristics and prognosis of recurrent intussusceptions (RI), the frequency of the PLP, and correlation between RI with PLP. Methods: The medical records of 144 patients, among 590 patients with intussusceptions who had been admitted to the Department of Pediatrics and Pediatric Surgery of Dankook University Hospital between May 1994 and June 2009 were reviewed retrospectively. Results: The overall recurrence rate of intussusceptions in this study was 9.2%. The mean interval between the initial occurrence and the first recurrent attack was 130${\pm}$175 days (range, 12 hours to 3 years). There was no statistically significant difference in the recurrence rate among patients who underwent air, barium, and manual reduction (p=0.131). Eighty-seven cases (92.6%) of RI had a successful reduction by the use of non-operative techniques. A PLP was present in 18 patients (3.0%). The most common PLP was intestinal lymphoid hyperplasia, followed by Meckel's diverticulum, duplication cyst, intestinal polyp, and adenomyoma. The mean number of intussusceptions was 4.7${\pm}$1.9 in 7 patients with PLP, which was significantly higher than (2.4${\pm}$0.9) patients without a PLP (p=0.023). The mean duration of recurrences was 17.4${\pm}$19.8 months (range, 2 days to 72 months). Conclusion: A careful search for a PLP should be performed to prevent recurrence of intussusception, especially when intussusception has recurred more than three times.

  • PDF

Teflon Felt Strip Mitral Valve Repair as an Alternative to Expensive Commercial Rings (테플론 펠트를 사용한 승모판막 성형술: 고가의 상업적 제품에 대한 대체물로 가능한가?)

  • Park, Kook-Yang;Jeon, Yang-Bin;Park, Chul-Hyun
    • Journal of Chest Surgery
    • /
    • v.41 no.2
    • /
    • pp.216-222
    • /
    • 2008
  • Background: Prosthetic annuloplasty rings are used for the reconstruction of the mitral valve annulus. However, there is controversy over the best ring to use for reconstruction. In this study, we evaluated the long term result of using a Teflon felt strip as an alternative to commercial rings. Material and Method: From 1996 to 2007, we enrolled 47 patients with pure mitral regurgitation greater than grade III. All patients had an ejection fraction of 40% or more. Patients with congenital heart disease or other valvular heart disease were excluded from this study. They were divided into two groups; the commercial ring group (Group CR) and the Teflon felt ring group (Group TF). Result: There was no mortality. The postoperative echocardiography showed no significant change in the overall ejection fraction (from $58.0{\pm}11.2%\;to\;42.8{\pm}8.4%$). There were no significant differences between the two groups with regard to morbidity, the reoperation rate and recurrence of mitral regurgitation greater than grade II. Conclusion: The long term results from this study showed that posterior mitral annuloplasty using Teflon felt had similar results compared to annuloplasty using commercial rings.

Yongdoseo(龍圖墅) and Guimunwon(龜文園) which Applied a Sangsu(象數) Principle on Garden Composition (상수(象數) 원리를 정원구성에 적용한 용도서(龍圖墅)와 귀문원(龜文園))

  • Hong, Hyoung-Soon
    • Journal of the Korean Institute of Traditional Landscape Architecture
    • /
    • v.30 no.2
    • /
    • pp.119-129
    • /
    • 2012
  • Yongdoseo and Guimunwon are described in "Bokgeo(卜居, fixabode)" of "Sanlimkyengje(山林經濟)" written by Manseon Hong. This record is a unique garden conceptual idea applying the principles of Hetu(河圖) and Luoshu(洛書), fanciful gardens which have not been actually constructed. Here, two garden types were concretely described respectively, however the underlying meaning therein cannot be apprehended without exact understanding about Sangsu studies. Therefore, the purpose of this study is to illuminate the meaning contained in Garden illustration and the historical meaning of landscape therein through considering this text. To achieve the purpose of this study, the writer and the compiler who are the background of this writing and the outline of Sangsu studies were investigated. Also, the principles of Saengsu(生數), Seongsu(成數), Yin Yang(陰陽), Four Bodies(四象), Palgwedo(八卦圖), etc. which are in Hetu and Luoshu were considered. The result of this study went through this research process is summarized as follows. First, Hetu Luoshu are conceptual definitions which wholly abstracted the basic propositions of Sangsu philosophy such as the universe change principle, etc., while Yongdoseo and Guimunwon can be said to be operational definitions which apply those as garden composition principle, enabling to experience the meaning contained therein concretely and explain it in a replicable way. This attempt is a unique example, unprecedented in Chinaas well. Second, as a livingspace, garden was selected as a means to concretize operational definitions about the meaning of Hetu Luoshu, and as the property to reproduce the bearings concept, the location and the number, etc. of Hetu Luoshu, Taegukjeong(太極亭), Shipjagak(十字閣), Dondae(墩臺), well, pond as well as various kinds of trees were used. Third, the main motif of Yongdoseo and Guimunwon is the relation between Apriority(先天) and Posterior(後天), and the relation between Constitution(體) and Use(用) of Hetu and Luoshu respectively. That is, Yongdoseo planted evergreen trees such as Shipjangcheong(十長靑) in order to symbolize the universe creation principle which Hetu stands for, i.e. silent, harmonious, orderly and win-win image. In Guimunwon, flowering trees(花木) and fruit trees(果木) were planted freely to express the change of Posterior which Luoshu stands for, thatis, dynamic, disharmonious, disorderly, incompatible(相剋) and changing image. The effects intended to be attained through such planting were, 'freshness and cheerfulness(淸爽)' of Yongdoseo and 'splendidness' of Guimunwon respectively. Sangsu studies based on Hetu and Luoshu is a unique thinking system to the Orient which came from the accumulated wisdom of several scholars from various schools through a long period since ancient times. Therefore, the concept and the theory thereof are profound and huge, and its viewpoints of interpretation are diverse. It is a limit of this study that more in-depth and various consideration was not performed. As a further research project, more empirical study of Orientalism such as Sangsu studies, etc. inherent in Traditional Garden is necessary.

Clinical Manifestations of 15 Cases of Pulmonary Sequestration (폐격리증 15예의 임상양상에 관한 고찰)

  • Park, Kwang-Joo;Kim, Eun-Sook;Kim, Hyung-Jung;Chang, Joon;Ahn, Chul-Min;Kim, Sung-Kyu;Lee, Won-Young;Kim, Sang-Jin;Lee, Doo-Yun
    • Tuberculosis and Respiratory Diseases
    • /
    • v.44 no.2
    • /
    • pp.401-408
    • /
    • 1997
  • Background : Pulmonary sequestration is a rare congenital malformation, which is manifested by formation of nonfunctioning lung tissue lacking normal communication with the tracheobronchial tree. The preoperative diagnostic rate has been relatively low, and without consideration of pulmonary sequestration, unexpected bleeding from aberrant vessels may be a serious problem during the operation. The purpose of our study is to describe the clinical features of pulmonary sequestration based on a review of 15 cases treated by operation. Method : Fifteen patients with pulmonary sequestration who had undergone surgical treatment from 1991 through May 1996 at Yongdong Severance Hospital and Severance Hospital were reviewed retrospectively. Results : The mean age of the patients was 22.5 years (range 5~57), and male to female ratio was 9 : 6. Clinical presentations varied from recurrent respiratory infections such as fever, cough, and sputum or chest pain to no symptom. The chest simple X-rays showed multicystic shadow(10/15) and solid mass-like shadow(5/15). The chest CT scans, done in twelve cases, showed multicystic lesion with or without lung infiltration(8/12), solid mass-like lesion(4/12), The chest MRIs, done in three cases, revealed the aberrant arteries originating from descending aorta(2/3). Aortograms, done in four cases, showed the aberrant arteries originating from descending thoracic aorta(2/4), abdominal aorta(I/4), and intercostal artery(1/4). and the venous returns were via the pulmonary veins. Pulmonary sequestration was considered preoperatively in six patients of fifteen. Other preliminary diagnosis were lung tumor(3/15), lung abscess(21/15), bronchiectasis(2/15), and mediastinal tumor(2/15). In the operative findings, twelve cases were of intralobar type and three cases of extralobar type. The left lower lobe was most often affected(9/15) and one extralobar sequestration was in the pericardium. The aberrant arteries originated from descending thoracic aorta(6/15), abdominal aorta(1/15), internal thoracic arteries (2/15), intercostal artery(1/15), pericardiophrenic artery(1/15), but in four cases, the origins could not be defined. There was no mortality or complication postoperatively. Conclusion : In our study, preoperative diagnostic rate was relatively low, and clinical features were similar to previous reports. Preoperative vigorous diagnostic approach including aortography is strongly advocated not only for its diagnostic value, but also for accurate localization of the aberrant vessels, which is major concern to surgical procedure.

  • PDF

Clinical Characteristics and Associated Anomalies in Children with Solitary Kidney (단일신을 가진 소아의 임상적 특징과 동반기형)

  • Kim, Joo-Whee;Lee, Se-Eun;Jung, Yun-Hye;Han, Kyung-Hee;Lee, Hyun-Kyung;Kang, Hee-Gyung;Ha, Il-Soo;Cheong, Hae-Il;Choi, Yong
    • Childhood Kidney Diseases
    • /
    • v.14 no.1
    • /
    • pp.42-50
    • /
    • 2010
  • Purpose : The clinical characteristics and associated anomalies in children with solitary kidney (SK) were analyzed retrospectively. Methods : Total 38 children diagnosed to have SK at our hospital between December 1989 and December 2009 were recruited, and the clinical records including imaging studies were retrospectively reviewed. SK was defined as unilateral renal agenesis by imaging studies only, and patients with regression of unilateral dysplastic kidney were excluded. Results : Among total 38 patients, 12 were male. The median age at the diagnosis of SK was 6.5 months (at birth-13 years). SK was detected by prenatal ultrasonography in 14 patients and during work-up for renal or urinary tract diseases in 13 (including urinary tract infection in 7). In 10 patients, SK was detected incidentally. Anomalies in the SK were noted in 17 patients including vesicoureteral reflux in 11. Other anomalies in the genitourinary tract were present in 16 patients, and multi-organ-involving syndromes or chromosomal anomalies were detected in 9. The mean duration of follow-up was 9 years (9 months-20 years). Two patients developed chronic renal failure during follow-up, and the median serum creatinine concentration of the remaining 36 at their last follow-up was 0.6 mg/dL. Conclusion : SK may be isolated and clinically asymptomatic; it is frequently accompanied by other anomalies in genitourinary tract and other organs, some of which can induce progressive renal dysfunction. Early recognition of associated anomalies with SK and regular follow-up is recommended to reduce long-term risk.

A Study on the Perceptions of Confucius and Mencius over Yi-Li Issues (의리(義利) 문제에 대한 공자와 맹자의 인식 연구)

  • Bahk, Yeong-Jin
    • (The)Study of the Eastern Classic
    • /
    • no.68
    • /
    • pp.283-317
    • /
    • 2017
  • Issues over morality and profit usually address relations between moral principles and material gains. In the history of traditional Oriental philosophy, discussions about them were called "Yi-Li zhi bian." The ideas of Confucius and Mencius also contain various discussions about Yi-Li. Both Confucius and Mencius defined Yi as a value concept to represent "natural," "appropriate" or "just" and regarded Yi as an external moral principle on the one hand and an internal moral emotion on the other hand. They had, at the same time, differences, as well. While Confucius placed importance on the external and acquired nature of Yi as a goal of morality, Mencius argued for the internal and innate nature of Yi as the nature of morality partially while recognizing its externality overall. Such Yi is a general term for subjective moral emotions and objective moral principles. Li was a concept of fact to represent "gain," "profit" or "profit-making." Both of them were against private interest and emphasized public interest. As for their differences, Confucius was positive about Li to some degree by saying "One should think of Yi when making profit," whereas Mencius was almost negative about Li and perceived it to be for Yi by saying "One should give up even his own life for Yi." He meant Li's dependence on Yi and also Yi's absoluteness for Ri. Both of them found a mix of opposite features in Yi such as internality and externality, subjectivity and objectivity, specificity and generality, and uniqueness and universality and also in Li such as individuality and specialty and public and private interest. Those features have both disadvantages including theoretical irrationality and logical contradiction and advantages including ideological diversity and conceptual polysemy. If efforts are made to avoid their disadvantages and highlight their advantages, they will provide some elements to consult in the creation of new global ethics required today when East and West are becoming one. In the modern society, the Yi-Li issues can be divided into the issues of morality and economy, personal and social profit, and moral ideal and material gain. If these modern Yi-Li issues are combined with the traditional Yi-Li issues, two paths will emerge over the order of Yi-Li. Of the many perceptions of Yi-Li issues of Confucius and Mencius, the idea of "Yi First, Li Later" can be very useful for creating a new ethics theory to represent "humanism" that we all need today when everyone considers their own pursuit of profit and satisfaction of needs as the best values. Sound Yi-Li relations will be possible only through Yi's orientation toward externality based on internality and Li's pursuit of private interest on the premise of public interest according to the spirit of "Yi First, Li Later."