• Title/Summary/Keyword: 생검

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Recycling Bone Autotransplantation with Extracorporeal Heat-Treatment for Malignant Bone Tumors of Pelvis (골반골의 악성 골종양의 재건술에서 체외 열처리를 이용한 재활용 자가골 이식술 및 인공 관절 치환술을 시행한 3례 보고)

  • Kim, Sae-Hoon;Lee, Sang-Hoon;Cho, Hwan-Sung;Kim, Han-Soo
    • The Journal of the Korean bone and joint tumor society
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    • v.9 no.1
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    • pp.115-123
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    • 2003
  • Study Design: A retrospective clinical and radiographic review. Objectives: The purpose of this study was to suggest recycling bone autotransplantation with extracorporeal heat-treatment as one of favorable reconstruction method for malignant bone tumors of pelvis through 3 cases. Summary of Literature Review: There are many biologic and nonbiologic reconstruction method in pelvic reconstruction. Cases: Case 1- A 20-year-old women had chief complaint of right hip and thigh pain started 3 months ago and done curettage and bone cementing at right ilium at other hospital. She had impression of malignant bone tumor and undergone postoperative radiation therapy for 6 cycles. After that she was referred to our hospital and undergone wide excision of right ilium and recycling bone autotransplantation with extracorporeal heat-treatment at 132 degree celsius for 2 minutes internal fixation with pelvic reconstruction plate and total hip replacement arthroplasty (ABG$^{(R)}$). There was no evidence of distant metastasis and revealed well-differentiated osteosarcoma on postoperative pathology. Neither adjuvant nor neoadjuvant chemotherapy were done. Case 2- A 56-year-old women who suffered right thigh pain for 3 months was detected radiologic abnormality at right pelvis. After incisional biopsy, osteosarcoma was diagnosed. We had undergone wide excision of right ilium and recycling bone autotransplantation with extracorporeal low heat-treatment at 65 degree celsius for 30minutes internal fixation with pelvic reconstruction plate and total hip replacement arthroplasty (ABG$^{(R)}$). There was no evidence of distant metastasis and revealed high-grade osteosacoma which was fibroblastic type on postoperative pathology. Adjuvant chemotherapy (HDMTX, ADR, CDDP) was done immediate after wound healing was completed. Case 3- A 46-year-old women was incidently found mass at left ilium which was suspected chondrosarcoma. We had undergone wide excision of left ilium and recycling bone autotransplantation with extracorporeal low heat-treatment at 65 degree celsius for 30minutes internal fixation with pelvic reconstruction plate and total hip replacement arthroplasty (Protek$^{(R)}$). There was no evidence of distant metastasis and revealed chondrosarcoma which was graded II/III on postoperative pathology. Results: Oncologic and functional outcome at final follow-up were for case 1, final follow-up time was 7 years, is no evidence of disease and functional score is 53% according to Ennecking et al. During follow-up, evidence of radiologic union was at about 1 and 6 months after operation. The case had breakage of pelvic reconstruction plate and some resorption of autotransplated bone, but no symptom present. For case 2, final follow-up was 3 years and 6 months, is no evidence of disease and functional score is 60%. For case 3, final follow-up was 7 months, no evidence of disease and functional score is 63% which is improving state. Discussion: 3 cases which were undergone recycling bone autotransplantation with extracorporeal heat-treatment and total hip replacement arthroplasty had relatively successful oncologic and functional outcome. Taking account that difficulty in using allograft in Korea this method is thoght to be one of the useful way to reconstruct pelvis after resection of primary malignant bone tumor of the pelvis.

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Multiple Daily Fractionated RT for Malignant Glioma (악성 성상세포종과 다형성 교아종 치료에 있어서 다분할 방사선 치료와 단순분할 방사선치료에 대한 성적비교)

  • Yang Kang Mo;Chang Hye Sook;Ahn Seoung Do;Choi Eun Kyung
    • Radiation Oncology Journal
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    • v.12 no.2
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    • pp.151-158
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    • 1994
  • Since Jan. 1992, authors have conducted a pilot study to treat malignant glioma with multiple daily fractionated(MDF) radiation therapy and this paper presents the outcome compared MDF to conventional factionated(CF) radiation therapy Between Sep. 1989 and Jan. 1993, forty three patients with high grade glioma of brain except brain stem glioma were treated: nineteen patients were treated with CF radiation therapy and 24 patients were treated with MDF radiation therapy. In CF radiation therapy, total dose was 6300cGy/35fx in 7 weeks, which 5040cGy was delivered to the initial target volume and 1260cGy to reduced target volume. And in MDF radiation therapy, total dose was 6400cGy/40fx in 4 weeks, which 3200cGy was delivered to the initial target volume as 160cGy 2 times daily 6hr apart. All patients had histologically confirmed anaplastic astrocytoma(AA) of glioblastoma multiforme (GBM) with stereotactic biopsy or craniotomy for subtotal or gross tumor resection. The range of follow-up was 7 months to 4 years with a median follow-up of 9 months. The Median survival from surgery was 9 months for all patients. The median survival was 9 months and 10 months for MDF group and CF group and 10 months and 9.5 months for glioblastoma multiforme and anaplastic astrocytoma, respectively. In 36 patients with follow-up CT scan or MRI scan, disease status was evaluated according to treatment groups, Four patients(GBM:3, AA:1) of 21 patients in MDF group, were alive with no evidence of disease, while none of patient was alive with no evidence of disease in CF group. The progression of disease had occurred in 20 patients, 11 patients and 9 patients in MDF group and CF group, respectively All of these patients showed in-field progression of disease, Four of 11 patients($27\%$) in MDF group showed the new leasion outside of the treatment field, while 5 of 9 patients($56\%$) in CF group. In our study the prognosis was not influenced by age, KPS, grade, extent of surgery and different fractional scheduled radiation therapy. Authors concluded that MDF regimen was well tolerated and shortened the treatment period from 7 weeks to 4 weeks without compromising results. We believe that further follow-up is needed to assess the role of MDF.

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Gene Expression Profiles in Cervical Cancer with Radiation Therapy Alone and Chemo-radiation Therapy (자궁경부암의 방사선치료 및 방사선항암화학 병용치료에 따른 유전자발현 조절양상)

  • Lee Kyu Chan;Kim Meyoung-kon;Kim Jooyoung;Hwang You Jin;Choi Myung Sun;Kim Chul Yong
    • Radiation Oncology Journal
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    • v.21 no.1
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    • pp.54-65
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    • 2003
  • Purpose : To analyze the gene expression Profiles of uterine ceulcal cancer, and its variation after radiation therapy, with or without concurrent chemotherapy, using a CDNA microarray. Materials and Methods :Sixteen patients, 8 with squamous ceil carcinomas of the uterine cervix, who were treated with radiation alone, and the other 8 treated w14h concurrent chemo-radiation, were Included in the study. Before the starling of the treatment, tumor biopsies were carried out, and the second time biopsies were peformed after a radiation dose of 16.2$\~$27 Gy. Three normal cervix tissues were used as a control group. The microarray experiments were peformed with 5 groups of the total RNAs extracted individually and then admixed as control, pre-radiation therapy alone, during-radiation therapy alone, pre-chemoradiation therapy, and during-chemoradlation therapy. The 33P-iabeled CDNAS were synthesized from the total RNAs of each group, by reverse transcription, and then they were hybridized to the CDNA microarray membrane. The gene expression of each microarrays was captured by the intensity of each spot produced by the radioactive isotopes. The pixels per spot were counted with an Arrayguage, and were exported to Microsoft Excel The data were normalized by the Z transformation, and the comparisons were peformed on the Z-ratio values calculated. Results : The expressions of 15 genes, including integrin linked kinase (ILK), CDC28 protein kinase 2, Spry 2, and ERK 3, were increased with the Z-ratio values of over 2.0 for the cervix cancer tissues compared to those for the normal controls. Those genes were involved In cell growth and proliferation, cell cycle control, or signal transduction. The expressions of the other 6 genes, Including G protein coupled receptor kinase 5, were decreased with the Z-ratio values of below -2.0. After the radiation thorapy, most of the genes, with a previously Increase expressions, represented the decreased expression profiles, and the genes, with the Z-ratio values of over 2.0, were cyclic nucleotlde gated channel and 3 Expressed sequence tags (EST). In the concurrent chemo-radiation group, the genes involved in cell growth and proliferation, cell cycle control, and signal transduction were shown to have increased expressions compared to the radiation therapy alone group. The expressions of genes involved in anglogenesis (angiopoietln-2), immune reactions (formyl peptide receptor-iike 1), and DNA repair (CAMP phosphodiesterase) were increased, however, the expression of gene involved In apoptosls (death associated protein kinase) was decreased. Conclusion : The different kinds of genes involved in the development and progression of cervical cancer were identified with the CDNA microarray, and the proposed theory is that the proliferation signal stalls with ILK, and is amplified with Spry 2 and MAPK signaling, and the cellular mitoses are Increased with the increased expression oi Cdc 2 and cell division kinases. After the radiation therapy, the expression profiles demonstrated 4he evidence of the decreased cancer cell proliferation. There was no sigificant difference in the morphological findings of cell death between the radiation therapy aione and the chemo-radiation groups In the second time biopsy specimen, however, the gene expression profiles were markedly different, and the mechanism at the molecular level needs further study.

The Continuous Monitoring of Oxygen Saturation During Fiberoptic Bronchoscopy (기관지내시경 검사시 지속적인 동맥혈 산소포화도 감시의 필요성)

  • Kang, Hyun Jae;Kim, Yeon Jae;Chyun, Jae Hyun;Do, Yun Kyung;Lee, Byung Ki;Kim, Won Ho;Park, Jae Yong;Jung, Tae Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.52 no.4
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    • pp.385-394
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    • 2002
  • Background : Flexible fiberoptic bronchoscopy(FFB) has become a widely performed technique for diagnosing and managing pulmonary disease because of its low complication and mortality rate. Since the use of FFB can in patients with severely depressed cardiorespiratory function is increasing and hypoxemia during the FFB can induce significant cardiac arrhythmias, the early detection and adequate management of hypoxemia during FFB is clinically important. Method : To evaluate the necessity of the continuous monitoring of the oxygen saturation($SaO_2$) during the FFB, the $SaO_2$ was continuously monitored from the finger tip using pulse oximetry before, during and after the FFB in 379 patient. The patients were then divided into two groups, those with and without hypoxemia($SaO_2$<90%). The baseline pulmonary function data and the clinical characteristics of the two groups were compared. Results : The mean baseline $SaO_2$ was $96.9{\pm}2.85%$. An $SaO_2$ <90% was recorded at some point in 62(16.4%) out of 379 patients, with 12 out of 62 experiencing this prior to the FFB, in 37 out of 62 during the FFB, and in 13 out of 62 after the FFB. No differences were observed in the smoking and sex distribution between those with and without hypoxemia. The mean age was older in those with hypoxemia than in those without. Significant differences were observed in the mean baseline $SaO_2$ and the mean time for the procedure between the two groups. The $FEV_1$ was significantly lower in those with hypoxemia, and both the FVC and $FEV_1/FVC$ also tended to decrease in this group. Managing hypoxemia included deep breathing in 20 patients, a supplemental oxygen supply in 39 patients, and the abortion of the procedure in 3 patients. Conclusion : These results suggest that the continuous monitoring of the oxygen saturation is necessary during fiberoptic bronchoscopy, and it should be performed in patients with a depressed pulmonay function in order for the early detection and adequate management of hypoxemia.

The Effect of the Histidine-Tryptophan-Ketoglutarate (HTK) Solution on Myocardial Protection in Isolated Rat Heart (흰쥐의 적출심장에서 HTK 용액의 심근보호 효과)

  • 송원영;장봉현;김규태
    • Journal of Chest Surgery
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    • v.37 no.8
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    • pp.632-643
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    • 2004
  • Background: The Histidine-Tryptophan-Ketoglutarate (HTK) solution has been shown to provide the excellent myocardial protection as a cardioplegia. The HTK solution has relatively low potassium as an arresting agent of myocardium, and low sodium content, and high. concentration of histidine biological buffer which confer a buffering capacity superior to that of blood.. Since HTK solution has an excellent myocardial protective ability, it is reported to protect myocardium from ischemia for a considerable time (120 minutes) with the single infusion of HTK solution as a cardioplegia. The purpose of this study is to evaluate the cardioprotective effect of HTK solution on myocardium when the ischemia is. exceeding 120 minutes at two different temperature (10 to 12$^{\circ}C$, 22 to 24$^{\circ}C$) using the Langendorff apparatus, Material and Method: Hearts from Sprague-Dawley rat, weighing 300 to 340 g, were perfused with Krebs-Henseleit solution at a perfusion pressure of 100 cm $H_2O$. After the stabilization, the heart rate, left ventricular developed pressure (LVDP), and coronary flow were measured. Single dose of HTK solution was infused into the ascending aorta of isolated rat heart and hearts were preserved at four different conditions. In group 1 (n=10), hearts were preserved at deep hypothermia (10∼12$^{\circ}C$) for 2 hours, in group 2 (n=10), hearts were preserved at moderate hypothermia (22∼24$^{\circ}C$) for 2 hours, in group 3 (n=10), hearts were preserved at deep hypothermia for 3 hours, and in group 4 (n=10), hearts were preserved at moderate hypothermia for 3 hours. After the completion of the preservation, the heart rate, left ventricular developed pressure, and coronary flow were measured at 15 minutes, 30 minutes, and 45 minutes after the initiation of reperfusion to assess the cardiac function. Biopsies were also done and mitochondrial scores were counted in two cases of each group for ultrastructural assessment. Result: The present study showed that the change of heart rate was not different between group 1 and group 2, and group 1 and group 3. The heart rate was significantly decreased at 15 minutes in group 4 compared to that of group 1 (p<0.05 by ANCOVA). The heart rate was recovered at 30 minutes and 45 minutes in group 4 with no significant difference compared to that of group 1. The decrease of LVDP was significant at 15 minutes, 30 minutes and 45 minutes in group 4 compared to that of group 1 (p < 0.001 by ANCOVA). Coronary flow was significantly decreased at 15 minutes, 30 minutes, and 45 minutes in group 4 compared to that of group 1 (p < 0.001 by ANCOVA). In ultrastructural assessment, the mean myocardial mitochondrial scores in group 1, group 2, group 3, and group 4 were 1.02$\pm$0.29, 1.52$\pm$0.26, 1.56$\pm$0.45, 2.22$\pm$0.44 respectively. Conclusion: The HTK solution provided excellent myocardial protection regardless of myocardial temperature for 2 hours. But, when ischemic time exceeded 2 hours, the myocardial hemodynamic function and ultrastructural changes were significantly deteriorated at moderate hypotherma (22∼ 24$^{\circ}C$). This indicates that it is recommended to decrease myocardial temperature when myocardial ischemic time exceeds 2 hours with single infusion of HTK solution as a cardioplegia.

Gastroduodenoscopic Findings and Effect of Therapy of Helicobacter pylori Infection in Children (소아 Helicobacter pylori 감염의 상부 위장관 내시경 소견 및 치료 효과)

  • Rhee, Kyung Shin;Park, Jae Ock
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.8 no.1
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    • pp.12-20
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    • 2005
  • Purpose: Helicobacter pylori infection is known to be associated with acute or chronic abdominal pain and upper gastrointestinal bleeding in children. This study was performed to analyze the gastroduodenoscopic findings and the efficacy of triple therapy with omeprazole, amoxicillin and clarithromycin between one and two weeks of duration in children with H. pylori infection. Methods: We have assessed retrospectively 60 patients presented with acute or chronic abdominal pain or upper gastrointestinal bleeding. H. pylori infection was confirmed by endoscopic biopsy and rapid urease test. Out of 60 patients, 30 patients were treated with a combination of omeprazole, amoxicillin, and clarithromycin for one week, and the other 30 patients were treated for two weeks with the same medication. Efficacy of treatment was assessed 4 weeks after the termination of treatment by using the $^{13}C$ urea breath test. Results: The 60 patients with the complaint of diffuse abdominal pain, epigastric pain, vomiting or hematemesis were included in this study. One-week treatment group (group I) consisted of 30 patients (14 male, 16 female) with mean age of $11.6{\pm}2.67years$. Two-week treatment group (group II) consisted of 30 patients (11 male, 19 female) with mean age of $10.7{\pm}4.17years$. In group I, H pylori were eradicated in 26 out of 30 patients (86.7%). In group II, H. pylori were eradicated in 26 out of 30 children (86.7%). Both groups did $^{13}C$ urea breath test after 4 weeks after termination of the triple therapy. The eradication rates were same in both groups as 86.7%, 26 out of 30 patients in each group. The results of endoscopy were nodular gastritis 26 (43.3%), erosive gastritis 10 (16.7%), hemorrhagic gastritis 7 (11.7%), gastric ulcer 2 (3.3%) and normal finding 15 (25.0%). Conclusion: In this study, the nodular gastritis was most common endoscopic findings with H. pylori positive patients. The eradication rate of H. pylori with omeprazole, amoxicillin and clarithromycin was 86.7% and it would be highly effective as primary treatment with no significant differences in the eradication rate between one-week and two-week treatment groups. However, we should need more long-term follow-up data.

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The Characteristics of Bronchioloalveolar Carcinoma Presenting with Solitary Pulmonary Nodule (고립성 폐결절로 나타난 기관지폐포암의 임상적 고찰)

  • Kim, Ho-Cheol;Cheon, Eun-Mee;Suh, Gee-Young;Chung, Man-Pyo;Kim, Ho-Joong;Kwon, O-Jung;Rhee, Chong-H.;Han, Yong-Chol;Lee, Kyoung-Soo;Han, Jung-Ho
    • Tuberculosis and Respiratory Diseases
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    • v.44 no.2
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    • pp.280-289
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    • 1997
  • Background : Bronchioloalveolar carcinoma (BAC) has been reported to diveres spectrum of chinical presentations and radiologic patterns. The three representative radiologic patterns are followings ; 1) a solitary nodule or mass, 2) a localized consolidation, and 3) multicentric or diffuse disease. While, the localized consolidation and solitary nodular patterns has favorable prognosis, the multicentric of diffuse pattern has worse prognosis regardless of treatment. BAC presenting as a solitary pulmonary nodule is often misdiagnosed as other benign disease such as tuberculoma. Therefore it is very important to make proper diagnosis of BAC with solitary nodular pattern, since this pattern of BAC is usually curable with a surgical resection. Methods : We reviewed the clinical and radiologic features of patients with pathologically-proven BAC with solitary nodular pattern from January 1995 to September 1996 at Samsung Medical Center. Results : Total 11 patients were identified. 6 were men and 5 were women. Age ranged from 37 to 69. Median age was 60. Most patients with BAC with solitary nodular pattern were asymptomatic and were detected by incidental radiologic abnormality. The chest radiograph showed poorly defined opacity or nodule and computed tomography showed consolidation, ground glass appearance, internal bubble-like lucencies, air bronchogram, open bronchus sign, spiculated margin or pleural tag in most patients. The initial diagnosis on chest X-ray were pulmonary tuberculosis in 4 patients, benign nodule in 2 patients and malignant nodule in 5 patients. The FDG-positron emission tomogram was performed in eight patients. The FDG-PET revealed suggestive findings of malignancy in only 3 patients. The pathologic diagnosis was obtained by transbronchial lung biopsy in 1 patient, by CT guided percutaneous needle aspiration in 2 patients, and by lung biopsy via video-assited thoracocopy in 8 patients. Lobectomy was performed in all patients and postoperative pathologic staging were $T_1N_0N_0$ in 8 patients and $T_2N_0M_0$ in 3 patients. Conclusion : Patients of BAC presenting with solitary nodular pattern were most often asymptomatic and incidentally detected by radiologic abnormality. The chest X-ray showed poorly defined nodule or opacity and these findings were often regarded as benign lesion. If poorly nodule or opacity does not disappear on follow up chest X-ray, computed tomography should be performed. If consolidation, ground glass appearance, open bronchus sign, air bronchogram, internal bubble like lucency, pleural tag or spiculated margin are found on computed tomography, further diagnostic procedures, including open thoracotomy, should be performed to exclude the possiblity of BAC with solitary nodular pattern.

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The Diagnostic Yield and Complications of Percutaneous Needle Aspiration Biopsy for the Intrathoracic Lesions (경피적 폐생검의 진단성적 및 합병증)

  • Jang, Seung Hun;Kim, Cheal Hyeon;Koh, Won Jung;Yoo, Chul-Gyu;Kim, Young Whan;Han, Sung Koo;Shim, Young-Soo
    • Tuberculosis and Respiratory Diseases
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    • v.43 no.6
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    • pp.916-924
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    • 1996
  • Bacground : Percutaneous needle aspiration biopsy (PCNA) is one of the most frequently used diagnostic methcxJs for intrathoracic lesions. Previous studies have reponed wide range of diagnostic yield from 28 to 98%. However, diagnostic yield has been increased by accumulation of experience, improvement of needle and the image guiding systems. We analysed the results of PCNA performed for one year to evaluate the diagnostic yield, the rate and severity of complications and factors affecting the diagnostic yield. Method : 287 PCNAs undergone in 236 patients from January, 1994 to December, 1994 were analysed retrospectively. The intrathoracic lesions was targeted and aspirated with 21 - 23 G Chiba needle under fluoroscopic guiding system. Occasionally, 19 - 20 G Biopsy gun was used for core tissue specimen. The specimen was requested for microbiologic, cytologic and histopathologic examination in the case of obtained core tissue. Diagnostic yields and complication rate of benign and malignant lesions were ca1culaled based on patients' chans. The comparison for the diagnostic yields according to size and shape of the lesions was analysed with chi square test (p<0.05). Results : There are 19.9% of consolidative lesion and 80.1% of nodular or mass lesion, and the lesion is located at the right upper lobe in 26.3% of cases, the right middle lobe in 6.4%, the right lower lobe 21.2%, the left upper lobe in 16.8%, the left lower lobe in 10.6%, and mediastinum in 1.3%. The lesion distributed over 2 lobes is as many as 17.4% of cases. There are 74 patients with benign lesions, 142 patients with malignant lesions in final diagnosis and confirmative diagnosis was not made in 22 patients despite of all available diagnostic methods. 2 patients have lung cancer and pulmonary tuberculosis concomittantly. Experience with 236 patients showed that PCNA can diagnose benign lesions in 62.2% (42 patients) of patients with such lesions and malignant lesions in 82.4% (117 patients) of patients. For the patients in whom the first PCNA failed to make diagnosis, the procedure was repeated and the cumulative diagnostic yield was increased as 44.6%, 60.8%, 62.2% in benign lesions and as 73.4%, 81.7%, 82.4% in malignant lesions through serial PCNA. Thoracotomy was performed in 9 patients with benign lesions and in 43 patients with malignant lesions. PCNA and thoracotomy showed the same pathologic result in 44.4% (4 patients) of benign lesions and 58.1% (25 patients) of malignant lesions. Thoracotomy confirmed 4 patients with malignat lesions against benign result of PCNA and 2 patients with benign lesions against malignant result of PCNA. There are 1.0% (3 cases) of hemoptysis, 19.2% (55 cases) of blood tinged sputum, 12.5% (36 cases) of pneumothorax and 1.0% (3 cases) of fever through 287 times of PCNA. Hemoptysis and blood tinged sputum didn't need therapy. 8 cases of pneumothorax needed insertion of classical chest tube or pig-tail catheter. Fever subsided within 48 hours in all cases. There was no difference between size and shape of lesion with diagnostic yield. Conclusion: PCNA shows relatively high diagnostic yield and mild degree complications but the accuracy of histologic diagnosis has to be improved.

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Establishment and Application of Molecular Genetic Techniques for Preimplantation Genetic Diagnosis of Osteogenesis Imperfecta (골형성부전증의 착상전 유전진단을 위한 분자유전학적 방법의 조건 확립과 적용)

  • Kim, Min-Jee;Lee, Hyoung-Song;Choi, Hye-Won;Lim, Chun-Kyu;Cho, Jae-Won;Kim, Jin-Young;Song, In-Ok;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.35 no.2
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    • pp.99-110
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    • 2008
  • Objectives: Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples carrying genetic conditions that may affect their offspring. Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. At least 95% of cases are caused by dominant mutations in the COL1A1 or COL1A2. In this study, we report on our experience clinical outcomes with 5 PGD cycles for OI in two couples. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of alkaline lysis and nested PCR protocol using heterozygous patient's single lymphocytes in the pre-clinical diagnostic tests for OI. We performed 5 cycles of PGD for OI by nested PCR for the causative mutation loci, COL1A1 c.2452G>A and c.3226G>A, in case 1 and case 2, respectively. The PCR products were analyzed by agarose gel electrophoresis, restriction fragment length polymorphism (RFLP) analysis with HaeIII restriction enzyme in the case 1 and direct DNA sequencing. Results: We confirmed the causative mutation loci, COL1A1 c.2452G>A in case 1 and c.3226G>A in case 2. In the pre-clinical tests, the amplification rate was 94.2% and ADO rate was 22.5% in case 1, while 98.1% and 1.9% in case 2, respectively. In case 1, a total of 34 embryos were analyzed and 31 embryos (91.2%) were successfully diagnosed in 3 PGD cycles. Eight out of 19 embryos diagnosed as unaffected embryos were transferred in all 3 cycles, and in the third cycle, pregnancy was achieved and a healthy baby was delivered without any complications in July, 2005. In case 2, all 19 embryos (100.0%) were successfully diagnosed and 4 out of 11 unaffected embryos were transferred in 2 cycles. Pregnancy was achieved in the second cycle and the healthy baby was delivered in March, 2008. The causative locus was confirmed as a normal by amniocentesis and postnatal diagnosis. Conclusions: To our knowledge, these two cases are the first successful PGD for OI in Korea. Our experience provides a further demonstration that PGD is a reliable and effective clinical techniques and a useful option for many couples with a high risk of transmitting a genetic disease.

Chest CT findings and Clinical features in Mediastinal Tuberculous Lymphadenitis (종격동 결핵성 임파선염의 흉부전산화 단층촬영 소견과 임상 양상에 대한고찰)

  • Lee, Young-Sil;Kim, Kyeong-Ho;Kim, Chang-Sun;Cho, Dong-Ill;Rhu, Nam-Soo
    • Tuberculosis and Respiratory Diseases
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    • v.42 no.4
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    • pp.481-491
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    • 1995
  • Background: Recently there has been a trend of an increasing incidence of mediastinal tuberculous lymphadenitis(MTL) in adults. MTL often cause bronchial stenosis or esophago-mediastinal fistula. In spite of effective treatment, it is difficult to cure. Moreover, relapse frequently occurs. Authors analyzed chest CT findings and clinical features of 29 cases with MTL Methods: 29 cases with MTL were retrospectively studied with the clinical and radiologic features from April 1990 to March 1995 Results: 1) A total of 29 cases were studied. 12 cases were male and 17 cases were female. The male to female ratio was 1:1.4 Mean age was 29 years old. The 3rd decade(45%) was the most prevalent age group 2) The most common presenting symptoms and signs were palpable neck masses(62%) followed by cough(59%) and sputum(38%) 3) Except in one case of MTL, all patients had coexisting pulmonary tuberculosis, cervical tuberculous lymphadenitis, endobronchial tuberculosis and tuberculous pleurisy. Among the coexisting tuberculous diseases, Pulmonary tuberculosis was the most common(76%) 4) On simple chest X-ray, mediastinal enlargement was noted in 21 cases(72%), but it was not noted in 8 cases(28%). The most frequently involving site was the paratracheal node in 16 cases(72%). Rt side predominence(73%) was noted 5) Patterns of node appearance on a postcontrast CT scan were classified into 3 types. There were 19 cases(30%) of the Homogenous type, 30 cases(47%) of the Central low density type and 15 cases(23%) of the Peripheral fat obliteration type. The most common type was the central low density type. The most common lymph node size was 1~2 cm(88%) 6) The most frequently involved site was the paratracheal node in 26 cases(89%) by chest CT. Rt side(63%) was predominant 7) 9 cases(43%) had complete therapy and most common treatment duration was 13 - 18 months. 12 cases(57%) had incomplete continuing antituberculous medication and half of the cases had been treated above 19 months. Conclusion: Chest CT findings of MTL showed central low density area and peripheral rim enhancement, so this characteristic findings could differentiate it from other mediastinal diseases and help a diagnosis of tuberculosis. In spite of effective antituberculous medication, it is difficult to cure. Moreover, relapse frequently occurs. Further studies will be needed of the clinical features and the treatment of MTL.

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