• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.302-310
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• 2002

Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients and additional family members in three unrelated XLA families. Mononuclear cells were separated from their blood and the intracellular Btk protein was characterized by a flow cytometry. The mutation analysis was performed using direct sequencing. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in the patients with XLA. We observed a novel deletion and two point mutations within introns(intron 1 and intron 18) resulting in alternative splicings. In XLA family 2, a 980 bp deletion(from intron 9+191 T to intron 10-215 C) including exon 10 was found in patient P2. He was the only sporadic case in this study, because his mother and brother showed a normal Btk expression by flow cytometry. Conclusion : These identified genetic alterations support the molecular heterogeneity of Btk gene in XLA disease. Additionally, by means of flow cytometric analysis, we diagnosed three hypogammaglobulinemia patients as XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.

• The Korean Journal of Nuclear Medicine
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• v.37 no.2
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• pp.110-119
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• 2003

Purpose: Radioiodine (I-131) therapy is an effective modality to reduce both recurrence and mortality rates in differentiated thyroid cancer. Whether higher doses shows higher therapeutic responses was still debatable. The purpose of this study was to validate curve-fitting (CF) method measuring maximum permissible dose (MPD) by a biological dosimetry using metaphase analysis of peripheral blood lymphocytes. Materials and Methods: Therapeutic effects of MPD was evaluated in 58 patients (49 females and 9 males, mean age $50{\pm}11$ years) of papillary thyroid cancer. Among them 43 patients were treated with ${\Leq}7.4GBq$, while 15 patients with ${\geq}9.25GBq$. The former was defined as low-dose group, and the latter high-dose group. Therapeutic response was defined as complete response when complete disappearance of lesions on follow-up I-131 scan and undetectable serum thyroglobulin levels were found. Statistical comparison between groups were done using chi-square test. P value less than 0.05 was regarded as statistically significant. Results: MPD measured by CF method using tracer and therapeutic doses were $13.3{\pm}1.9\;and\;13.8{\pm}2.1GBq$, respectively (p=0.20). They showed a significant correlation (r=0.8, p<0.0001). Exposed doses to blood measured by CF and biological methods were $1.54{\pm}0.03\;and\;1.78{\pm}0.03Gy$ (p=0.01). They also showed a significant correlation (r=0.86, p=0.01). High-dose group showed a significantly higher rate of complete response (12/15, 80%) as compared to the low-dose group (22/43, 51.2%) (p=0.05). While occurrence of side effects was not different between two groups (40% vs. 30.2%, p=0.46). Conclusion: Measurement of MPD using CF method is reliable, and the high-dose I-131 therapy using MPD gains significantly higher therapeutic effects as compared with low-dose therapy.

• Journal of Chest Surgery
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• v.31 no.2
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• pp.134-141
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• 1998

Primary lung cancer has recently increased progressively in its incidence in Korea. It is clearly evident that surgical resection offers the best offortunity for cure of non-small cell carcinoma. This study was designed to analyse the clinical data of 100 primary non-small cell carcinoma patients who underwent lung resection surgery from January 1992 to July 1995 at the department of Thoracic and Cardiovascular Sugery, Kyungpook National University Hospital. There were 86 males and 14 females(6:1). In the age distribution, the peak incidence was recorded in the seventh decade(43%). The methods of tissue diagnosis were bronchoscopic biopsy in 53 patients(50.5%), percutaneous needle aspiration in 17 patients(16.2%), transbronchial lung biopsy in 11 patients(10.5%), mediastinoscopic biopsy in 2 patients (1.9%), sputum cytology in 2 patients(1.9%), and thoracotomy in 20 patients(19.0%). Fifty-five lobectomies, 22 pneumonectomies, 15 bilobectomies, 2 segmentectomies, 4 sleeve lobectomies, a sleeve pneumonectomy, and a wedge pneumonectomy were performed. Operative mortality occured in 4 cases(sepsis in 2 cases, respiratory failure in 1 case, and acute myocardiac infarction in 1 case). The histologic types of tumor were 67 squamous cell carcinomas, 26 adenocarcinomas, 6 large cell carcinomas, and an adenosquamous cell carcinoma. Eighteen patients with N2 mediastinal lymph node metastases had 8 squamous cell carcinomas(11.9%), 9 adenocarcinomas(34.6%), and a large cell carcinoma(16.7%). The primary tumors in these patients were in the right upper lobe in 4 patients, the right middle and lower lobe in 9 patients, the left upper lobe in 3 patients, and the left lower lobe in 2 patients. With regard to pathologic stages, 45 patients had stage I disease; 13 patients, stage II; 36 patients, stage IIIa; 5 patients, stage IIIb; and 1 patient, stage IV. The overall actuarial survival rate was 77.5% at 12 months, 56.1% at 24 months and 43.7% at 43 months. The actuarial survival rates at 43 months were 81.3% in Stage I, 20.8% in Stage II, 27.9% in Stage IIIa, 25.0% in Stage IIIb and 33.3% in Stage IV. These facts suggest that early detection and surgical resection are recommended for favorable postoperative survival in non-small cell lung cancer.