• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.106-109
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• 2011

MCG는 3-methylcrotonyl-CoA의 결핍으로 발생하는 선천성 leucine 대사 장애이다. 무증상에서 간질지속증 등의 다양한 임상양상을 보이며 주로 신생아대사이상선별검사에서 의심되어, 소변 유기산 검사를 통해 3- hydroxyisovaleric acid의 증가의 소견이 보인다. 치료는 leucine 제한 식이와 L-carnitine의 복용 등의 식이요법이 있다. 서울아산병원에서 MCG로 확진된 9가계 11명의 환자를 대상으로 임상상과 분자 유전학적 특성을 조사하였다. 9명은 신생아 대사이상검사로 발견되었으며, 나머지 2명은 가족검사를 통해서 진단되었다. 총 2-10세($2.6{\pm}1.96$년)까지의 관찰 기간 동안 모든 환자는 정상 발달을 보였으며, 신경학적 이상이나 대사불균형의 이상소견은 보이지 않았다. 총 18개의 대립유전자 중 17개에서 돌연변이를 발견하였으며, p.D280Y 돌연변이가 66.7%의 대립유전자에서 확인되어, 한국인 MCG에서 흔한 돌연변이임을 알 수 있었다. 또한 p.S342K, p.P459S, p.552S, p.Q496H, p.T556A 등 대부분의 돌연변이가 이전에 보고된 바가 없던 돌연변이로 한국인 MCG환자의 유전학적 특성이 다른 민족과 다름을 시사한다.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1978.06a
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• pp.8.4-9
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• 1978

Since the first success of simple mastoidectomy, about 100 years ago by Schwartze (1873). Zollner (1951) and Wullstein (1952) had formulated systemically the basic principles of restorative surgery of chronic ear diseases. Although the last century has shown a remarkable advances in surgical technique, there are still lots of debatable problems yet. The authors experienced 970 cases of middle ear surgery during last four years and clinical and statistical analysis were done as a preliminary report.

• Journal of the Korean Orthopaedic Association
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• v.56 no.3
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• pp.261-265
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• 2021

A diagnosis of gout is often straightforward because gout has well known clinical presentations, laboratory analyses, and radiologic features. On the other hand, gout can mimic other diseases by showing a range of atypical clinical manifestations. This paper reports a 35-year-old male with no prior history of gout who developed tophaceous gout at his previously repaired Achilles tendon 11 years after surgery. He was initially misdiagnosed with cellulitis because of his atypical clinical features. This case is presented with a review of the relevant literature.

• Journal of Veterinary Clinics
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• v.27 no.6
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• pp.735-739
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• 2010

An 8 month old female Maltese (body weight 3.6 kg) was referred with primary complaints of dyspnea and exercise intolerance. Diagnostic imaging studies revealed marked cardiomegaly and prominent main pulmonary trunk dilation on thoracic radiography, abnormally arisen aortic roots (toward right ventricle) with left-to right shunted perimembraneous ventricular septal defect located underneath of aortic root, aortic root was located to predominantly to the right ventricle and pulmonary regurgitation (peak velocity 4.7 m/s, pressure gradient ~88 mmHg) from pulmonary over-circulation and hypertension on echocardiography, indicating double outlet right ventricle (DORV). The dog was treated with furosemide (1 mg/kg, BID) for reducing volume overload at right ventricle, spironolatcone (1 mg/kg) and enalapril (0.5 mg/kg) for minimizing deleterious cardiac remodeling, and sildenafil (1 mg/kg) for lessening pulmonary over-circulation and hypertension. The clinical condition of this dog was improved after 1 week of medical treatment. The dog is currently survived and regularly monitored.

• Childhood Kidney Diseases
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• v.13 no.1
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• pp.1-13
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• 2009

Type 1 diabetes mellitus commonly occurs in childhood and adolescence, although the prevalence of type 2 diabetes mellitus in these age groups is now being increased in the western world and Korea. Diabetic nephropathy developing in 15-25% of subjects with type 1 diabetes mellitus and in similar or higher percentage of type 2 diabetes mellitus patients is the leading cause of end-stage renal disease worldwide. Although prepubertal diabetic duration may contribute less to the development of microvascular complications than pubertal and postpubertal duration, diabetic nephropathy in susceptible patients almost certainly begins soon after disease onset and may accelerate during adolescence, leading to microalbuminuria or incipient DN. Type 1 diabetes is commonly associated with a period of hyperfiltration followed by the development of persistent microalbuminuria after as little as 7-10 years of type 1 diabetes. Microalbuminuria is associated with pathologic lesions that are so advanced as to overlap with those seen in patients with overt proteinuria and declining kidney function, therefore, microalbuminuria currently considered the best clinical indicator of overt diabetic nephropathy risk. This review covers the natural history and renal manifestations of diabetic nephropathy in children and adolescents.

• Journal of Veterinary Clinics
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• v.32 no.2
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• pp.187-190
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• 2015

An 18-month-old female spayed domestic short-haired cat, weighing 4.1 kg, was presented as an emergency case after it suffered a gunshot injury. Physical examination of the cat revealed paraplegia, with loss of deep nociception. A bullet (diameter, 3 mm) lodged in the left epaxial muscle at the level of the first lumbar (L1) was observed on radiographic examination, and a hyperattenuating spot in the spinal canal was confirmed using computed tomography. Exploratory laminectomy was performed, and an incomplete fracture of the right caudal articular process of L1 and a necrotizing spinal cord lesion were found. The animal was euthanized and necropsy was performed, which revealed a crack on the left pedicle of L1. This case report presents the first detailed clinical description of a gunshot injury to the spinal cord in a cat.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.48-56
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• 2000

Purpose: Alport SD., the most common herectitary rephriris, is a renal disease with rapid progression. Deafness, ocular abnormalities and a specific EM finding may be associated in addition to a family history. We have aralyged retrospectively. Methods: We observed 12 children with Alport syndrome who were diagnosed at Dept. of pediatrics in Kyunghee Univ., College of Medicine, from Apr. 1991 until Jun. 1999. We used four criteria for diagnosis: renal disease, family history, deafness or eye abnormalities, and a specific finding in electron microscopy Results: 2 of 12 patients had all features of the four diagnostic criteria. We could not trace an exact family history in 3 patients, and 6 patients did not exhibit deafness or eye abnormality. One could not have renal biopsy because offer chronic renal failure. Other three criteria were observed in her. The ratio of male to female observed was 1:2 respectively and the mean age of initial renal symptom was 5.6 years. 9 of 12 patients had a family history of renal disease. In the audiogram and ocular examination for 11 of 12 cases, sensorineural hearing loss was observed in 6 and ocular abnormality in 2 cases. In electron microscopic finding, irregular thickness of the capillary basement membranes with lamination of lamina densa and foot process obliteration was noted in 9 of 11 and thin basement membrane with splitting and foot process obliteration was noted in the other 2. The mean period of follow-up was 3 6/12 years. And one patient developed the chronic renal failure until now and had kidney transplantation. Conclusion: For the diagnosis of Alport syndrome, the following four diagnostic criteria are very important : renal disease, family history, deafness or eye abnormalities, and a specific finding on electron microscopy. We expect that more patients can be detected through the analysis of these characteristics.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.63-67
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• 2005

Purpose : Henoch-$Sch{\ddot{o}}nlein$ purpura(HSP) is a systemic vasculitis, characterized by cutaneous palpable purpura, gastrointestinal(GI) symptoms, arthritis and renal involvement. In general, the prognosis is determined by GI complication as well as the severity of nephritis. In this study, we analyzed the statistical relationship between the GI symptom and other clinical findings for assessing the prognosis, and evaluated abdominal ultrasonographic findings for early diagnosis of this disease with atypical clinical presentation and early detection of serious GI complications. Methods : One hundred seventy seven patients with HSP in the Department of Pediatrics, Wonkwang University Hospital from January 1994 to June 2004, were enrolled. We retrospectively analyzed charts about clinical and abdominal ultrasonographic findings, and classified our patients into two groups(GI-Sx(-), GI-Sx(+)) for statistical analysis. Results : The ratio of female to male is 1.5 : 1. The peak age incidence was five to eight years in 95 cases(53%). The GI symptoms appeared in 117 cases(66%), which include abdominal pain 115 (98 %), tenderness 45(38%), nausea and vomiting 35(30%), bloody stool 10(8.5%), diarrhea four(3.4%), rebound tenderness four(3.4%), and also intussusception and appendicitis were complicated in five and two cases respectively. GI-Sx(+) group had an increased risk of renal involvement and relapse than the GI-Sx(-) group. But there were no relationships about sex and age incidence, or other clinical and laboratory findings between two groups. Ultrasonographic findings in 98 patients with GI symptoms included small bowel thickening in 70 cases(71%) in which duodenum, jejunum and ileum were involved in 71%, 45.7%, 40% respectively, small bowel dilatation in 41 cases(42%), lymph node swelling in 46 cases(47%), and ascites in 25 cases(25.5%). Conclusion : GI symptoms in patients with HSP suggested increased risk of renal involvement and relapse. Abdominal ultrasonography could be helpful in the early diagnosis on atypical clinical presentation and early detection of serious GI complication in these patients.

• Tuberculosis and Respiratory Diseases
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• v.41 no.2
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• pp.144-151
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• 1994

Background: Miliary tuberculosis almost always results from the discharge of infected caseous material into the blood stream, usually from a well hidden lymph node in the presentation of this disease in the past four decades, and although it is seen less frequent1y today than previously, its presentation and manifestation may require greater suspicion and diligence by the physician. We investigated the clinical characteristics, predisposing factors and accompanying diseases of miliary tuberculosis and tried to acquire the early diagnosis and treatment of this disease. Methods: A retrospective clinical study was done on 40 cases of miliary tuberculosis admitted to Hanyang University Hospital from Mar. 1989 to Dec.1992. The study investigated age and sex distribution, seasonal distribution, duration of symptoms before admission, pre-disposing factors, clinical symptoms, biochemical findings, chest X-ray findings, extrapulmonary tuberculosis associated with miliary tuberculosis, prognosis and mortality rate. Results: 1) The patients were most common in the age group between 20 and 29(23%) and the ratio of male to female was 1.4:1(male 23 : female 17). 2) Sputum smears for tubercle bacilli were positive in 5 cases(13%). 3) The most common clinical symptoms were fever with chilling(47.5%), coughing(47.5%), second most common symptom was dyspnea(32.5%), and the physical findings on admission were tachycardia(30%), weight loss(27.5%), meningeal signs(17.5%) in order. 4) The predisposing factors were heavy alcohol drinking(6 cases), steroid use(3 cases), pregnancy(2 cases) etc. 5) The chest X-ray findings on admission were miliary shadow only(40%), in addition pneumonic infiltration, pleurisy, and calcification in order. 6) The extrapulmonary tuberculosis associated with miliary tuberculosis were tuberculous meningitis(30%), bone and joint tuberculosis(17.5%), intestinal tuberculosis(15%) in order. 7) Biochemical findings were increased SGOT/SGPT(32.5%), increased alkaline phosphatase(32.5%), hypoalbuminemia(15%), hyponatremia(15%) etc. 8) About 4-6 weeks later after treatment(INH, RFP, PZA, EMB), 26 cases(65%) were improved on clinical symptoms or chest X-ray, 12 cases(30%) were stationary or aggravated, and 2 cases(5%) were died. Conclusion: For the early diagnosis and treatment of miliary tuberculosis, we must see its presentation and manifestation with greater interest and suspicion and investigate its predisposing factors and accompanying diseases.

• Pediatric Infection and Vaccine
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• v.7 no.2
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• pp.218-224
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• 2000

Purpose : In Korea, vivax malaria has been reemerged since 1993 after being abscent for more than 10 years. There are several possibilities of casuality of recent epidemic, although it is still unclear. The epidemiologic studies including case analysis and entomological reseach have been undertaken for a successful control measure. But, unfortunately those studies have been rarely dealt with cases of children. Therefore, this study was designed to figure out the characteristics of epidemiolgic and clinical features in children with indigenous vivax malaria. Methods : The study 21 cases below 15 years of age, who were diagnosed as vivax malaria and resided in kyounggi-do province area during 1998. 9~1999. 8. We retrospectively analyzed epidemiologic data concernig with occurrence of vivax, and clinical manifestations, abnormal laboratory findings and outcomes including therapeutic responses. Results : All cases were inhabitants of the endemic areas for vivax malaria in northwestern part of Kyonggi-do or western Kangwon-do, and Paju-gun was the most prevalent. Indigenous malaria cases of this study were more prevalent in children above 10 years old age, and in male. Seasonally, vivax malaria in children occurred throughout the year except January, March and November, and the incidence was the highest in July. Clinical manifestations revealed that 48 hour cyclic fever pattern was the major fever pattern, and other symptoms such as headache, vomiting, poor appetites, chilling, abdominal pain and diarrhea were concomitantly developed. And splenomegaly revealed the main abnormal findings on physical examination, and anemia was the most frequent abnormal finding in laboratory examinations. Young trophozoite was frequently observed on peripheral blood smears. The therapeutic responses of chlorquine were very good in all cases, and no recurrence developed in follow up cases. Conclusion : Geographical and seasonal occurrence distributions of indigenous vivax malaria cases in children were very similar to those of adults as followings; Inhabitants of the endemic region, more prevalent in male, and more common during the summer season. Clinically, 48 hour cyclic fever pattern, splenomegaly and anemia were most frequent and important manifestations in children cases, and clinical courses were not serious. On blood smears, young trophozoite was most dominantly examined in children. Generally, the therapeutic outcomes were excellent, and recurrences were not observed.