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

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.38-45
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• 2005

Purpose : The purpose of this study was to analyze the therapeutic effect of plasmapheresis in various pediatric diseases. Methods : Therapeutic plasmapheresis was performed by COBE Spectra centrifugation. Nine cases were included in this study. The number an[;. method of plasmapheresis, together with the progress and prognosis of each case were retrospectively reviewed. Results : The patients' ages ranged from 26 mont]Is to 16 years of age, and the mean age was 9.9 years. There were S males and 4 females. The underlying diseases requiring plasmapheresis included 2 cases of hemolytic uremic svndrome(HUS), 1 case of lupus nephritis, 2 cases of rapidly Progressive glomerulonephritis(RPGN), 1 case of focal segmental glomorulosclerosis(FSGS), 1 case of systemic vasculitis after pulmonary hemorrhage, 1 case of acute renal failure associated with pulmonary hemoIThage, and 1 case of acute rejection after renal transplantation. The average number of plasmapheresis performed was 6.2 times with a range of 3 to 13 times. The patients with HUS, lupus nephritis, ANCA positive systemic vasculitis induced by pulmonary hemorrhage and ARF-associated pulmonary hemorrhage showed a good response to therapeutic plasmapheresis, but the patients with RPGN, refractory FSGS, and acute rejection after renal transplantation were not responsive to treatment. The most common side effect was hypocalcemia which was rarely symptomatic. Vital signs were not compromised. Conclusion : Although it is presumptuous to generalize the therapeutic effects of plasma pheresis in different diseases due to the small number of study subjects, this study shows that plasmapheresis may be an effective therapeutic modality in various pediatrics diseases and should be considered as a therapeutic option.

• Proceedings of the KOR-BRONCHOESO Conference
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• 2003.09a
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• pp.112-112
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• 2003

호흡곤란에 대한 적절한 대처는 의사로서 숙지하여야 할 가장 중요하고도 기본적인 개념 중의 하나이다. 상부 기도에 발생하는 여러 가지 임상적 상황은 흔히 흡기성 천명을 동반하는 호흡 곤란으로 나타나고, 이에 대해 흔히 기도 삽관이나, 기관절개술 등이 행해 지지만, 그 발생 원인에 대해서 감별점들을 숙지하지 않으면, 원발 질환에 대한 합리적인 치료 뿐만 아니라 응급상황에서 적절하게 기도를 확보하는 데에도 문제가 생길 수 있다. 후두 상부에 일어나는 기도폐쇄의 상황은 비강에서부터 인두와 성문 상부, 식도 입구부에 이르는 해부학적 위치에 발생하는 다양한 질환들에 의한다. 비강과 비인두에는 pyriform aperture stenosis, choanal atresia, lacrymal duct cyst, 또는 teratoma나 encephalocele과 같은 질환이 발생할 수 있다. 구강, 인두부에서는 다양한 종류의 안면골격의 이상이나 설거대증, 또는 설갑상선, 갑상설관낭종, 또는 유피종등이 설기저부에 발생하기도 하고, 흔한 이유로 심한 편도-아데노이드 비대가 심각한 호흡곤란을 일으키기도 한다. 특히 소아에서는 이물의 가능성도 항상 염두에 두어야한다 이와 같이 기도 협착의 위치에 따라서 임상적 표현 양상이 구별될 수 있고, 또 부위에 따라 다양한 질환이 감별되어야 하므로 발생 위치에 따른 각 질환의 이해가 적절한 기도의 관리를 위해서 필수적이다.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.489-497
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• 2002

Purpose : The objectives of this study were to investigate the causes of chronic cough and to establish the appropriate diagnostic approach to chronic cough in children. Methods : One hundred and thirty two cases of chronic cough were prospectively evaluated. They visitors to pediatric chronic cough clinics at Kang-nam saint Mary's Hospital of Catholic University from August 2000 to July 2001 for 12 months. Careful history taking by questionnaire, physical examination, radiologic studies of chest and sinus, hematologic and immunologic studies, allergic skin tests, and methacholine challenge tests were performed. Color doppler(CD) ultrasonography were performed and compared with simultaneous 24 Hr. esophageal pH monitoring to diagnose gastroesophageal reflux disease(GERD). Results : Age distributions were demonstrated that nine in infants, 82 in early childhood, 38 in late childhood, and three in adolescence. Common causes of chronic cough were bronchial asthma in 40 cases, chronic sinusitis in 22 cases, GERD in seven cases, bronchial asthma combined with sinusitis in 28 cases, bronchial asthma combined with GERD in 14 cases, psychogenic cough in two. cases, foreign body in one case, chronic bronchitis in one case, and bronchiolitis in one case. Comparing with 24 Hr. pH monitoring, sensitivity, specificity, positive predictive value and negative predictive values of CD ultrasonography were 88%, 69%, 85 %, and 73% respectively. Conclusion : The most common causes of chronic cough in children were bronchial asthma, sinusitis and GERD in order. We suggest that CD ultrasonography can be used as a good, convenient screening method for patients with suspected GERD in outpatient settings.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1991.06a
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• pp.30-30
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• 1991

성대마비 이비인후과 영역에서는 비교적 빈번하게 관찰되는 질환으로 대부분은 미주신경과 그 분지인 반회신경이 경정맥공에서 후두까지의 주행중에 생긴 질환에 의하여 이차적으로 발생하거나, 드물게는 윤상갑상연골 관절의 고정에 의사여 발생하게 된다. 임상적인 진단은 간접후두경이나 화이버옵틱후두경 검사법에 의하여 간단하게 내려질 수 있으나, 그 발생원인은 다양하며, 임상적인 양상 및 그에 따른 치료 원칙도 다르게 나타난다. 이에 연자들은 1986년 1월 1일부터 1990년 12월 31일까지 5년간 국립의료원 이비인후과에 내원한 환자중 성대마비로 진단된 환자 61례에 대한 후향적 기록 분석에 의해 성별, 원인별, 측별, 성대의 위치, 및 그에 따른 치료방향에 대하여 비교 검토하여 다음과 같은 결과를 보였다. 1)성별은 남녀비가 3:2로 남자가 많았으며, 연령별 분포는 20대에서 70대까지 비교적 균등하였으나 50대(23.0%)에서 가장 많은 분포를 보였다. 2)원인으로는 원인불명이 16례(26.2%), 갑상선수술 8례(13.1%), 폐결핵과 기관내삽관후 각각 6례(9.8%), 폐암 5례(8.2%) 순이었다. 3)마비된 성대의 측별 분포는 편측성이 51례(83.6%), 양측성이 10례(16.4%)이며, 편측성중 좌측이 37례(60.6%)로 가장 많았다. 마비된 성대의 위치는 부정주위가 33례(54%)로 가장 많았다. 4)즉 증상은 단지 애성만 있었던 례가 31례(50.8%), 호흡곤란 혹은 기도흡인등을 동반한 애성이나, 애성을 동반하지 않은 례도 있었다(3례). 증상 발현후 병원 내원까지 기간은 2개월이내가 가장 많았다. 5)16례에서 수술적 처치가 시행되었거나(9례), 혹은 자연치유가 관찰되었는데(7례) 편측성마비때 갑상연골성형술 2례, 양측 마비때 후두외접근법에 의한 피열연골절제술 4례, 레이저를 이용한 피열연골절제술 2례, 승모판 협착증에 의한 편측성 성대마비에서 개심술후 성대마비 회복 1례, 자연 치유는 7례에서 관찰되었으며 6례에서는 증상발현후 6개월이내에 회복되었다.

• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.232-239
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• 2002

Purpose : Renal cystic diseases comprise a mixed group of heritable, developmental and acquired disorders. Recently the use of imaging modalities such as ultrasonography and radionuclide scanning has increased the detection rate of renal cystic diseases. We studied to review the clinical features and treatment of renal cystic diseases in children. Methods : This study was performed in 95 children with renal cystic diseases in the Department of Pediatrics, Asan Medical Center from October 1989 to June 2001. Results : In 95 patients, there were 55 cases(58.0%) with multicystic dysplastic kidney(MCDK), 19 cases(20.0%) with simple renal cysts, 13 cases(13.7%) with hereditary polycystic kidney diseases( 7 with autosomal recessive type, 5 with autosomal dominant type, 1 with undetermined), 6 cases(6.3%) with renal cysts in tuberous sclerosis and 1 case(1.0%) with medullary cystic disease. All MCDK patients had no renal dysfunction and hypertension during the follow-up period. Three out of 13 with polycystic kidney diseases had progressed to end-stage renal disease during the follow-up period. One case with a simple cyst underwent laparoscopic malsupialization for decompression. Conclusion : Renal cystic diseases have diverse clinicopathologic features and variable prognosis. We emphasize that routine follow-up should be performed to prevent and to detect early treatable complication in renal cystic diseases. Therefore, their natural history and treatment need further investigation and long term follow-up is required.

• Journal of Chest Surgery
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• v.36 no.7
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• pp.539-543
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• 2003

Langerhans cell histiocytosis (LCH), previously called histiocytosis X, refers to a spectrum of disease characterized by idiopathic proliferation of histiocytes producing focal or systemic manifestations. Causes and pathogenesis remain unclear The basic histopatholgic fndings are identical in the three well-established clinical syndromes (eosinophilic granuloma, Hand-Shuller-Christian disease, Letterer-Siwe disease). The disease has a predilection for children, although it may occur in adults. We experienced two cases of adult onset Langerhans cell histiocytosis in the ribs. One case was associated with diabetes insipidus and the other case had a solitary lesion.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.247-250
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• 2009

Stevens-Johnson syndrome (SJS) presents with widespread blisters, erythematous or purpuric macules, and one or more mucous membrane erosions. Various etiologic factors, including infection, vaccination, drug administration, systemic diseases, physical agents, and food have been implicated as causes of SJS. Mycoplasma pneumoniae is the most common infectious agent to cause SJS in children. In recent literature, M. pneumoniae-induced SJS with mucositis that lacks the typical target lesions has been described. We report a case of a 6-year-old boy with swelling, peeling of the lips, and red eyes with photosensitivity. On physical examination, he showed severe oral mucositis and conjunctivitis with no evidence of skin lesions. Mycoplasma antibody, which was positive with titers of more than 1:2,560. For patients presenting with fever and mucositis of unknown origin, M. pneumoniae should be considered.

• Sleep Medicine and Psychophysiology
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• v.4 no.2
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• pp.129-139
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• 1997

The data collected to date indicate that sleep-related breathing disorders, including sleep-disordered breathing(sleep apnea) and underlying respiratory system diseases, are one of the important risk factors for cardiovascular dysfunction. Sleep-disordered breathing(sleep apnea) is now recognized as one of the leading causes of systemic hypertension, cardiac arrhythmias, coronary heart disease, pulmonary hypertension, right heart failure, and stroke. Sleep may exert a profound effect on breathing in patients with underlying respiratory system disease including bronchopumonary diseases, chest wall abnormalities, central alveolar hypoventilation syndromes or respiratory neuromuscular disorders. Chronic hypoxia and hypercapnia in these patients may accelerate the development of long term cardiovascular complications such as cardiac arrhythmias, pulmonary hypertension, and right heart failure(cor pulmonale). Several recent studies reported that sleep-related breathing disorders are associated with long-term cardiovascular morbidity and mortality. Careful assessment of respiratory and cardiovascular function in these patients is critical. Aggressive and highly effective treatment of sleep-related breathing disorders using tracheostomy, mechanical ventilation, nasal continuous positive airway pressure therapy(nCPAP), intercurrent oxygen therapy or other interventions can reduce the prevalence of cardiovascular dysfunction and the long-term mortality.

• Annual Conference of KIPS
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• 2019.10a
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• pp.713-714
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• 2019

간 질환은 다양한 원인에 의해서 이환되며 초기에는 이상증세가 나타나지 않아 조기 진단이 어려운 질병이다. 특히, 간 질환이 진행될수록 이상증세가 빈번히 나타날 뿐만 아니라 다양한 합병증을 동반할 수 있어 조기진단이 반드시 필요하다. 간 질환이 진행이 될수록 중증도가 높아지며 간조직 내에서는 결절(nodule) 생성 빈도가 높아진다. 간 질환을 비침습적으로 진단하기 위한 검사 방법 중 하나인 의료영상 진단에서도 간 결절과 간질환 중증도에 따라 판별이 어려운 경우가 빈번하게 발생하고 있다. 본 연구에서는 간 결절에 대한 점수를 산출하여 간 질환에 대한 중증도를 판단할 수 있는 정량분석 소프트웨어를 개발하였으며 임상 간 질환 환자의 의료 영상을 분석하여 임상적 의의를 찾고자 한다.