• Tuberculosis and Respiratory Diseases
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• v.47 no.2
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• pp.195-208
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• 1999

Background: Pulmonary infiltrate in immunocompromised hosts has many infectious and non-infectios etiologies. To evaluate the diagnostic yield and therapeutic implication of two invasive diagnostic methods, such as bronchoscopy and surgical lung biopsy, we performed retrospective analysis of these patients. Methods: All immunocompromised patients admitted to Samsung Medical Center from October 1995 to August 1998 who underwent bronchoscopy and/or surgical lung biopsy for the diagnosis of pulmonary infiltrates were included in this study. Confirmative diagnostic yield, the rate of changed therapeutic plan and patients' survival were investigated. Results: Seventy-five episodes of pulmonary infiltrates developed in 70 patients(M : F=46 : 24, median age 51). Underlying diseases of patients were hematologic malignancy(n=30), organ transplantation(n=11), solid tumor(n= 12), connective tissue disease(n=6) and others. Confirmative diagnosis was made in total 53 cases (70.7%), of which 70.2% had infectious etiology. Diagnostic yields of bronchoscopy, bronchoalveolar lavage(BAL), transbronchiallung biopsy(TBLB) and surgical lung biopsy were 35.0%(21/60), 31.4%(16/51), 25.0%(9/36) and 80.0%(20/25). Therapeutic plan was changed in 40%(24/60) of patients after bronchoscopy and in 36%(9/25) of patients after surgical lung biopsy. More patients survived (84.4% vs 60.5%, p=0.024) when therapeutic plan was changed after invasive diagnostic study. Conclusion: Bronchoscopy and surgical lung biopsy are helpful for the therapeutic implication of pulmonary infiltrates in immunocompromised hosts. Large-scale prospective case-control study may further clarify their limitation and usefulness.

• Tuberculosis and Respiratory Diseases
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• v.67 no.2
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• pp.88-94
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• 2009

Background: From November 2006, The national health insurance system in the Republic of Korea began to cover prescribed long-term oxygen therapy (LTOT) in patients with chronic respiratory insufficiency. This study examined the current status of LTOT after national health insurance coverage. Methods: Between November 1, 2006 and June 30, 2008, the medical records of patients who were prescribed LTOT by chest physicians were reviewed. The data was collected from 13 university hospitals. Results: 197 patients (131 male and 66 female) were prescribed LTOT. The mean age was 64.3${\pm}$13.0 years. The most common underlying disease was chronic obstructive pulmonary disease (n=103, 52.3%). Chest physicians prescribed LTOT using arterial blood gas analysis or a pulse oxymeter (74.6%), symptoms (14%), or a pulmonary function test (11.2%). The mean oxygen flow rate was 1.56${\pm}$0.68 L/min at rest, 2.08${\pm}$0.91 L/min during exercise or 1.51${\pm}$0.75 L/min during sleep. Most patients (98.3%) used oxygen concentrators. Only 19% of patients used ambulatory oxygen supplies. The oxygen saturation before and after LTOT was 83.18${\pm}$10.48% and 91.64${\pm}$7.1%, respectively. After LTOT, dyspnea improved in 81.2% of patients. The mean duration of LTOT was 16.85${\pm}$6.71 hours/day. The rental cost for the oxygen concentrator and related electricity charges were 48,414${\pm}$15,618 won/month and 40,352${\pm}$36,815 won/month, respectively. Approximately 75% of patients had a regular visit by the company. 5.8% of patients had personal pulse oxymetry. 54.9% of patients had their oxygen saturation checked on each visit hospital. 8% of patients were current smokers. The most common complaint with LTOT was the limitation of daily activity (53%). The most common complaint with oxygen concentrators was noise (41%). Conclusion: The patients showed good compliance with LTOT. However, only a few patients used an ambulatory oxygen device or had their oxygen saturation measured.

• Journal of Gastric Cancer
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• v.10 no.1
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• pp.13-18
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• 2010

Purpose: Omental infarction (OI) following laparoscopy-assisted gastrectomy (LAG) for gastric cancer could become more common in the future because the indications for LAG are expected to expand. The aim of this study was to determine the clinical characteristics of OI following LAG. Materials and Methods: Three hundred ninety patients who underwent LAG for T1 or T2 gastric cancer from April 2003 to November 2007 were enrolled. OI was diagnosed by two radiologists using the patients' abdominal 16 row-detector CT scans. The clinicopathologic characteristics were retrospectively evaluated in the omental infarction (OI) group and the non-omental infarction (non-OI) group using the gastric cancer database of Dong-A University Medical Center and the medical record. Results: Nine omental infarctions (2.3%) of 390 LAGs were diagnosed. All the OIs could be discriminated from omental metastasis on the initial or follow up CT images. The location of the omental infarctions was on the epigastrium in 3 patients and in the left upper quadrant in 3 patients. The mean size of the OIs was 4.1 cm. Most patients with OI had no signs or symptoms. The body mass index of the OI group was higher than that of the non-OI group (P=0230), and OI was more common in patients who underwent total gastrectomy than in the patients who underwent subtotal gastrectomy (P=0.0011). Conclusion: Laparoscopy-assisted gastrectomy (LAG) with partial omentectomy for gastric cancer can be a cause of secondary OI. Omental infarction after LAG has different clinical characteristics and CT findings that those of other omental infarctions or postoperative omental metastases. Further multicenter study will be needed to evaluate in detail the clinical features of omental infarction after LAG.

• Journal of Korean Academy of Nursing
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• v.18 no.1
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• pp.26-33
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• 1988

내담자와 상담자간의 관계형성 추진에 관한 연구가 C. Rogers에 의해 시작된 이래, 돕는자 또는 상담자가 가져야 할 주요 조건으로서 공감, 존중, 온정, 확고부동함, 진지성, 자기노출, 직면반응 등을 들고 있으며 이중 둘 또는 세 요소 등을 선택하여 그 효과를 보고 있으나 역시 가장 주요한 요소로써는 공감을 들고 있다. 공감에 관한 연구는 그 본질의 정서적 측면, 인지적 측면 또는 복합적인 측면을 강조하면서 시도되고 있으나 간호원은 돕는자로써 환자의 문제해결을 위한 전수자적 역할을 해야한다는 점을 고려할때 간호현상에서의 공감에 관한 연구는 복합적인 측면을 강조하는 공감이 어 야 한다고 생각한다. 간호학자들도 간호원의 돕는 행위중 주요 요소로써 공감을 들고 있으며 특히 Lamonica는 공감측정을 위한 도구를 개발하였으며 공감이란 환자가 간호원이 환자의 입장을 이해하고 도와준다는 사실을 인지하고 그 고마움을 표현하는 것을 의미한다고 하였다. 본 연구자는 간호원-환자간의 촉진적 관계형성을 위한 교육내용 개발에 대한 기본 연구로써 한국인의 공감 정도를 측정할 수 있는 도구개발의 중요성을 느껴 Lamonica 의 공감측정 도구를 번역하게 되었다. 본 연구의 구체적인 목적은 미국문화권에서 사용되는 공감측정 도구가 한국인에게 적합하고 의미있게 번역되었는지를 확인하고 또한 한국인이 인지한 공감에 대한 탐색을 하는데 있다. 위 목적달성을 위하여 횡문화적 연구과정을 통한 개념분석, 도구 개발에 대한 통계분석을 시도하였다. 한국인의 공감 개념 분석을 위하여 미국 텍사스 오스틴에 있는 한국인에게 공감의 뜻, 동의어, 어떤 경우에 공감을 느꼈는지, 어떤 경우에 비공감적임을 느꼈는지를 물은 결과 한국인이 갖는 공감의 의미는 미국인의 것과 유사하지만 그 표현방법의 차이가 있음을 알게 되었다. 따라서 두 국가에서 사용되는 공감의 의미가 유사하고 또한 간호학자인 Lamonica가 개발한 공감측정 도구를 한국인에게 사용하는데 무리가 없을 것으로 판단되었다. 도구의 번역은 텍사스 주립대학 박사과정 지원생인 임상 심리 학자에게 의뢰하고 그 정확성을 판단하기 위해 인간을 대상으로 하는 학문을 연구하는 한국인(간호학, 사회학, 신문방송, 광고학, 심리학 전공)에게 그 정확성 유무를 물어 최고 27점, 최하 9점중 22점 미만인 문항에 대해서는 미국 간호학자와 의논하여 수정ㆍ보완하였다. 그 후 일반인으로 간주되는 한국인에게 그 도구의 이해 여부를 확인한 후 통계분석을 시도하였다. 대상자는 미국 텍사스 오스틴에 거주하면서 한국을 떠난지 3년 미만인 성인 45명을 대상으로 하였다. 2차에 걸친 자료수집 과정상 5명의 자료는 분석 불가능하다고 판단되어 총 40명의 자료를 spss- X를 이용하여 cronbach's alpha, test-retest stability, intercorrelation matrix 분석을 통한 결과는 다음과 같다. 1) cronbach's alpha는 1차 .9353 2차 .9666으로써 문항의 동질성을 보였고, 3, 4주 간격으로 행한 test-retest stability는 .7619(p＝000)이였다. 2) 반면에 intercorrelation matrix에서는 역관계 또는 무관계를 보였으며 84문항중 26문항의 item-to-total correlation값이 .35미만이었고 이 중 16문항은 .30 미만이었다. 이들을 제외한 68문항과 58문항의 각각의 item-to-total correlation간은 .96이었고 test retest stability 역시 .76으로써 84문항 전체에 관한 값과 유사하였다. 3) 역상관 또는 무상관의 값을 보인 문항을 미국 간호학자와 재검토한 결과 본래 문항에서의 단어 의미가 복합적이거나 불분명한 것이었고 또는 미국 문화권에서 사용되는 특이한 용어임을 알 수 있었다. 따라서 한국인 공감 측정 도구의 타당성을 높이기 위해 역통역을 시도하였다. 그후 공감에 관한 연구를 하고 있는 미국 학자에게 그 정확성을 판단하여 최종적으로 58문항이 한국인 공감측정 도구로서 적합하다는 판단을 하였다. 위 결과를 통한 결론 및 제언은 다음과 같다. 인간의 행위는 조건화된 문화권에 따라 다를 수 있으며, 이것은 같은 현상을 인지하는데도 영향을 미치게 되며 본 연구와 같이 어떤 현상에 대한 횡문화적 연구는 그 행위를 이해하는데 도움을 준다. 그러나 한국에서 간호에 대한 연구가 한국적 토착화 과정에 있으므로 그 연구 방법이나 도구사용이 서구의 것을 도입해야 하는 입장을 고려할 때 도구번역 과정은 원래의 의미나 함축성을 내포한 번역이어야 하며 소홀히 해서는 안될 과정임을 재확인되었다. 또한 추후 연구로써 다양한 계층의 다수를 대상으로 한 한국인 공감 측정 도구의 타당성을 재확인해야 하며 요인분석을 시도할 필요성이 있다고 사려된다.

• The korean journal of orthodontics
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• v.9 no.1
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• pp.39-65
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• 1979

The purpose of this study was to investigate the pattern of irregularities of teeth in various malocclusion groups. The subjects consist of 803 out-patients (355 males, and 448 females) in department of Orthodontics of S.N.U. Hospital, Yonsei University, and Kyunghi University Hospital. The results were as follows. 1. The proportions of subjects on the basis of Angle's Classification were 39.2% (42.2% male, and 57.8% fomale) in class I malocclusion, 29.0% (44.6% male, and 55.4% female) in class II. div. 1., 3.5%(46.4% male, and 53.6% female) in class II. div. 2., 28.3%(46.3% male, and 53.7% female) in class III. 2. Considering all the subjects, the percentage of teeth crowding was 67.8% (45.0% male, and 55.0% female). In class I malocclusion, the percentage of Crowding was 70.8%(43.5% male, and 56.5% female) with higher frequency in upper anterior teeth than in lower anterior. 3. The percentage of Maxillary anterior diastema was 25.6% (45.6% male, and 54.4% female) on the whole. In class II. div. 1. malocclusion, the percentage was 28.8% (46.3% male, and 53.7% female) and in class III, the percentage was 19.8% (46.7% male, and 53.3% female). Thus, frequency of maxillary anterior distema, was comparatively higher in class II. div. 1. than in class III. 4. The percentage of high canine was 25.1% (53.2% male, and 46.8% female) on the whole, and was 86.0% male and 76.6% female in right side, 73.0% male and 72.3% female in left side. In calss II. div. 2., the percentage was 53.6% (46.7% male, and 53.3% female ). In class II. div. 1., the percentage was 16.7% (46.2% male, and 53.8%) with higher frequency in class II. div.2. 5. The percentage of deep overbite was 23.0% (43. 2% male, and 56.8% female) on the whole. Ia class 11. div. 2., and in clas sll. div. 1., its were 89.3%(48.0% male and 52.0% female), 54.5% (40.9% male, and 59.1% female) respectively. This result can be considered as one of the characterics of Angle's class 11 malocclusion group. 6. The percentage of spacing was 23.0% (36.8% male, and 63.2% female) on the whole, In class II. div. 1., and in class II. div. 2., its were 26.1% (44.3% male, and 55. 7% female), 7.1% (50.0% male, and 50.0% female) respectively. 7. The percentage of open bite was 14.3% (42.6% male, and 57.4% female) on the whole with higher rate on the anterior part. It rated 17.6%(50. 0% male, and 50.0% female) in class III, but none in class II. div. 2. 8. The percentage of crossbite was 22.5% (55.8% male, and 44.2% female) on the whole, with higher frequency on the anterior part than on the posterior part. In Angle's class III, it rated as much as 55.1% (57.6% male, and 42.4% female). 9. The percentage of edge-to-edge bite was 20.4% (47.6% male, and 52.4% female) with higher frequency on anterior part than on posterior part. 10. The percentage of irregularities of teeth in various malocclusion groups, was 21.5% (24.8% maxillary, and 18.1% mandible) in crowding, 20.8% (23.5% maxillary, and 18.0% mandible) in rotation, 10.7% (10.6% maxillary, and 10.8% mandible) in cross bite, 9.5% (11.8% maxillary, and 7.3% mandible) in spacing, 8.5% (8.5% maxillary, and 8.5% mandible) in edge-to-edge bite, 8.1% (8.3% maxillary, 7.8% mandible) in open bite. Crowding teeth, spacing teeth, and rotating teeh were more prevalent in anterior part than in posterior part. Cross bite teeth and edge-to-edge bite teeth were more prevalent in class III malocclusion than in another.

• Tuberculosis and Respiratory Diseases
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• v.40 no.1
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• pp.16-22
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• 1993

Background: The Microbicidal and cytotoxic activities of neutrophils are to a large extent dependent on a burst of oxidative metabolism which generates superoxide anion, hydrogen peroxide, and other reactive products of oxygen. The respiratory burst of PMN is initiated by intracellular calcium mobilization that follows immune or particular stimulation and is very sensitive to modulation by c-AMP or adenosine. Despite its antagonism against adenosine, earlier study has demonstrated potent theophylline inhibition of the PMN respiratory burst at variable ranges of blood concentrations of theophylline in the healthy normal volunteers and in the septic animals pretreated or early post-treated with aminophylline (AMPH) or pentoxifylline. However it is unclear whether theophylline inhibits the superoxide generation or not in the established human sepsis caused by acute pneumonia, as taking into consideration of the fact that full activation of neutrophils have occurred within minutes after the septic insult in the animal experiments. Methods: We measured the $O_2$ generation of peripheral arterial neutrophils obtained from 11 human septic subjects caused by acute pneumonia before and 1 hour after completion of continuous AMPH infusion. Patients were identified and studied within 48 hour of admission. All subjects were administered an intravenous loading and maintenance dose of AMPH. The generation of $O_2$ was measured at a discrete time point (60 min) by the reduction of ferricytochrome c.PMA (10 ${\mu}g/ml$) was used as a stimulating agent. PMNs were isolated at a concentration of $2{\times}10^6$ cells/ml. The arterial oxygen tension, blood pressure and heart rates were also checked to evaluate the systemic effects of AMPH in the acute pneumonia. Results: The mean serum concentration of AMPH at 60 minutes was $8.8{\pm}0.6{\mu}g/ml$. Sixty minutes after AMPH infusion the generatition of $O_2$ was decreased from $0.076{\pm}0.034$ to $0.013{\pm}0.004$(OD) (p<0.05) and from $0.177{\pm}0.044$ to $0.095{\pm}0.042$(OD) (p<0.01) in the resting and stimulated PMNs respectively. $PaO_2$ was not changed after AMPH infusion. Conclusion: AMPH may compromise host defense by significant inhibition of neutrophil release of superoxide anion and it had no effect on improving $PaO_2$ in the acute pneumonia.

• Tuberculosis and Respiratory Diseases
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• v.51 no.2
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• pp.147-154
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• 2001

Background : Bronchoscopy has been widely used for a histologic diagnosis through a transbronchial lung biopsy or for staging of patients with peripheral lung cancer. However a transthoracic needle aspiration (TTNA) has been used more widely for a histologic diagnosis in patient with a small size nodule or a nodule located in the outer portion of the lung because of the low diagnostic yield of bronchoscopy in these cases. The role of bronchoscopy for staging is not well established in patients with peripheral lung cancer diagnosed by a TTNA or patients who are undergoing surgery without a histologic diagnosis. Method: To evaluate the role of bronchoscopy for the staging in patients with peripheral lung cancer, who were diagnosed by TTNA, the medical records of 86 patients with peripheral lung cancer who underwent bronchoscopyat Kyungpook National University Hospital between January 1995 and May 1997 were reviewed. Results : While 53 cases had normal bronchoscopic findings, 33 cases had abnormal bronchoscopic findings comprising 9 cases of tumor, 10 cases of infiltration and 14 cases of compression of which there were 25 cases of T1 and 8 T2 endoscopically. The bronchoscopic staging did not influence the changes of the clinical stage of lung cancer. The frequencies of bronchial involvement tended to increase as the sizes of the nodule increased. Among the 42 patients who underwent surgery, 9 patients staged higher after operation because of lymph node involvement in 8 patients and the involvement of the pulmonary artery in 1 patient. No case staged above after operation due to a bronchial invasion. Conclusion : These findings suggests that bronchoscopy is not useful for staging in patients with peripheral lung cancer diagnosed by a TTNA.

• The Journal of Korean Medicine
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• v.27 no.3 s.67
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• pp.187-200
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• 2006

Objectives: Acupuncture has been applied in Asia for thousands of years, especially to rehabilitation after stroke. It has been reported that acupuncture increased cerebral blood supply and stimulated the functional activity of brain nerve cells shown by using brain imaging techniques. This study was to evaluate the effect of GB 34-GB 39 electro-acupuncture (EA) on regional cerebral blood flow (rCBF) in stroke patients and normal volunteers using single photon emission computed tomography (SPECT). Methods: The study procedure was divided into two parts: patients and volunteers studies. For the patients study, ten ischemic stroke patients (3 males, 7 females, mean age $68.5{\pm}8.9$ years old) were selected. Baseline brain SPECT was done with triple head gamma camera (MultiSPECT3, Siemens, USA) after intravenous administration of 1,110 MBq of $^{99m}Tc-ECD$. Fifteen-minute EA at GB 34 and GB 39 were applied on the affected limb. The same dose of $^{99m}Tc-ECD$ was injected during the EA, and the second set of SPECT images wasobtained. Using the computer software (ICON 7.1, Siemens, USA), 3 SPECT slices (upper, middle, lower) surrounding the brain lesion were selected and each slice was divided into 10-16 brain regions. Asymmetry indexes (AI) were analyzed in each brain region. We regarded over 10% changes of AI between before and after EA as significance. For the volunteers study, 10 healthy human volunteers (5 males, 5 females, mean age $28.1{\pm}6$ years old) were selected. In the resting state, $^{99m}Tc-ECD$ brain SPECT scans were performed. On the 7th day after the resting examination, 15 minute EA was applied at GB 34 and GB 39 on the right side of the subjects. Immediately after EA, the second SPECT images were obtained inthe same manner as the resting state. Significant increases and decreases of rCBF after EA were estimated by comparing their SPECT images with those of the resting state using paired t statistics at every voxel, which were analyzed by statistical parametric mapping with a threshold of p = 0.01, uncorrected (extent threshold: k=100 voxels). Results: In stroke patients, six of the eight (75%) had significantly increased perfusion in post-acupuncture scans compared to their baseline state. In normal volunteers, GB 34-GB GB EA increased rCBF in both hemispheres including right ventral posterior cingulate (Brodmann area (BA) 23), left superior temporal, anterior transverse temporal (BA 22, 41), left parastriate, peristriate (BA 18, 19), right occipitotemporal, angular (BA 37, 39), left rostral postcentral, caudal postcentral and preparietal (BA 2, 3, 5). However GB 34-GB 39 EA decreased rCBF in the right hemisphere including triangular and middle frontal lobes. Conclusions: The results demonstrated that OB 34-GB 39 EA increased cerebral perfusion in ischemic stroke patients and increased rCBF grossly in temporal lobes of normal volunteers. It is also suggested that there may be a correlation between the GB meridian and the territory of the middle cerebral artery.

• THE JOURNAL OF KOREAN ORIENTAL ONCOLOGY
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• v.6 no.1
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• pp.81-97
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• 2000

Objectives: This experimental study was carried out to evaluate the effects of aqueous and methanol extracts of Hedyotis diffusa which has long been used for cancer treatment in oriental medicines on the induction of apoptotic cell death in human lymphoid leukemia cell line, HL-60. Methods: Cells were treated with various concentrations (200 to $0.4{\mu}g$) and periods (6 to 30 hr) of $H_2O$ and methanol extracts of Hedyotis diffusa. Then, cells were tested for viability by MTT assay. Cells wrere treated with $200{\mu}g/ml$ of methanol extract fork various periods. Genomic DNA was isolated, separated, on 1.5% agarose gels, stained with ethidium bromide and visualized under UV light. Cells were treated with $200{\mu}g/ml$ of each extract for 16 hr. Then, cells were treated with Hoechst dye 33342 and observed by fluorescence microscopy. Cells were treated with various doses of each for 12 hr and $100{\mu}g/ml$ of methanol extract for various periods. Lysate from the cells used to measure the activity of Caspase-1 and-3 proteases by using fluorogenic peptide substrates including acetyl-YVAD-AMC and acetyl-DEVD-AMC, respectively. Cells were treated with $200{\mu}g/ml$ of each extract for various periods. Cell lysates were immunoprecipated with anti-JNKl antibodies. The immune complex was reacted with $32^p-ATP$ and c-Jun as a substrate. The phosphotransferase activity of JNKI was measured by using PhosphoImage analyzer (Fuji Co., Japan). Nuclear extracts were isolated and incubated with oligonucleotide probe of $NF-{\kappa}B$. Transcriptional activation of ${\kappa}B$ was measured by using EMSA and visualized by PhosphoImage analyzer (Fuji Co, Japan). Cell lysates were prepared and analyzed by Western blotting with anti-Bc12 antibodies and anti-Bax antibodies. Cells were pretreated with various doses of methanol extract for 2 hr. Then, the extract was removed by centrifugation. Cells were resuspended with RPMI-1640 media containing 0.3% agarose, 10% FBS, overlayred onto bottom layer agarose and incubated at $CO_2$ incubator for 6 days. The number of colony was counted under light microscopy ($\time100$). Results: The death of HL-60 cells was markedly induced by the addition of methanol extract of Hedyotis diffusa in a dose and time-dependent manners. The apoptotic characteristic ladder pattern of DNA strand break was observed in death of HL-60 cells. In addition, it was shown nucleus chromatin condensation and fragmentation under Hoechst staining. Therefore, Hedyotis diffusa extract-induced death of HL-60 cells is mediated by apoptotic signaling processes. The activity of Caspase 3-like proteases remained in a basal level in HL-60 cells treated with aqueous extract of Hedyotis diffusa. However, it was markedly increased in HL-60 cells treated with methanol extract of Hedyotis diffusa. In addition, the phosphotransferase activity of JNKl was increased in HL-60 cells treated with methanol extract of Hedyotis diffusa. Furthermore, the activation of transcriptional activator, $NF-{\kappa}B$ was markedly induced by methanol extract of Hedyotis diffusa. Anti-apoptotic Bc12 was cleaved into 23Kda fragment by treatment of methanol extract of Hedyotis diffusa. However, expression of proapoptotic Bax protein was increased by treatment of methanol extract of Hedyotis diffusa in a time-dependent manner. Furthermore, methanol extract markedly inhibited the colony forming efficiency of HL-60 cells in semisolid agar culture. Conclusions: Above results suggest that methanol extract of Hedyotis diffusa induces the apoptotic death of human leukemic HL-60 cells via activations of Caspase-3 proteases, JNKI, transcriptional activator $NF-{\kappa}B$, In addition, our results also suggest that methanol extract of Hedyotis diffusa reduces the malignant potential of HL-60 cells via down regulation of colony forming effciency through cleavage of Bc12 as well as induction of Bax.

• 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.