Kang Ki Mun;Chai Gyu Young;Kim Jin Pyeong;Lee Won Seop
Radiation Oncology Journal
/
v.22
no.4
/
pp.247-253
/
2004
Purpose: Hypopharyngeal cancer is diagnosed at the advanced stage in most cases, which the prognosis known to be poor. Thus, the efficacy of induction chemotherapy followed by radiotherapy, with regards to the response and survival rate for stage IV hypopharyngeal cancer patients, was examined. Materials and Methods: From July 1998 to February 2000, 18 cases were diagnosedas AJCC stage IV hypopharyngeal cancer without distant metastasis. These patients were treated with induction chemotherapy followed by radiotherapy, and the results retrospectively analyzed. The regimen of the induction chemotherapy was the 5-FU and cisplatincombination, at 3-week intervals for, 2 cycles. The total radiation dose for the primary lesion and metastatic lymph nodes was $68.4\~72.0$Gy (median: 70.2 Gy). Results: The: The median follow up period was 28 months, ranging from 7 to 99 months. The 3-year overall survival and disease-free survival rate were 41.7 and $31.1\%$, respectively. In 6 cases ($33.3\%$), conservation of the larynx for over 3 years was possible. After the induction chemotherapy there were 16 partial responses ($88.8\%$), 1 complete response and 1 with no response ($5.6\%$ each), therefore, 17 of the 18 cases ($94.6\%$) showed responses. After the completion of the induction chemotherapy and radiotherapy, a complete response was noted in 13 cases ($72.2\%$), a partial response in 5 ($27.8\%$), with an overall response rate of $100\%$. In the analysis of the prognostic factors influencing the survival rate, the 3-year and disease-free survival rates for the complete and partial response groups were 43.1, and $20.0\%$, and 39.6, and $20.0\%$, respectively (p=0.0003, p=0.002). Only the final response after treatment completion was statistically significant. Conclusion: For stage IV hypopharyngeal cancer, induction chemotherapy followed by radiotherapy was an effective treatment, with no severe side effects.
Journal of The Korean Society of Inherited Metabolic disease
/
v.18
no.2
/
pp.43-49
/
2018
Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.
Lee, Jun;Kim, Min-ji;Yoo, Sukdong;Yoon, Ju Young;Kim, Yoo-Mi;Cheon, Chong Kun
Journal of The Korean Society of Inherited Metabolic disease
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v.21
no.1
/
pp.15-21
/
2021
Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.
Background : It has been generally known that the incidence of lung cancer is higher in the patients with idopathic pumonary fibrosis (IPF) than those in general population. The reported incidence was variable from 4.8 to 43.2%. There were controversies on the most frequent cell type (squamous cell carcinoma vs. adenocarcinoma) and no study was done about the real concordance of cancer and the fibrotic lesion. And the pulmonary fibrosis may influence not only the development of cancer but also the treatment and prognosis of the cancer, but there was no report on that point. Method : Total 63 patients ($66.8{\pm}7.8$ year, M : F=61 : 2) were diagnosed as IPF combined with lung cancer (IFF-CA) at Asan Medical Center. A retrospective analysis was done about the risk factors of the lung cancer, pulmonary function test, the site of cancer(especially the relationship of the cancer with the fibrotic lesion), the histologic types, and the stage of cancer. The histologic types were compared with those of 2,660 patients with lung cancer who were diagnosed at the same institute for the same period. The effect of IPF on the treatment of the cancer was evaluated with the survival time after the detection of lung cancer. Results : The lung cancer was found in 63(22.9%) out of 281 patients with IPF. But in most of them(45 patients), lung cancer was detected at the same time with IPF and only in 18 patients, the cancer was diagnosed during the follow-up($25.2{\pm}17.7$ months) of IPF. So in our study, 6.7% of patients with IPF developed lung cancer during the course of the disease. The age ($66.8{\pm}7.84$ vs. $63.4{\pm}11.1$ years), percentage of smoker (88.9 vs. 67.2%), and the male gender (96.8 vs. 67.6%) were significantly higher in IPF-CA compared with lone IPF (p<0.05). The odds ratio of smoking was 4.7 compared with non smoking IPF controls. The lung cancer was located more frequently in the upper lobe and 55.5% was in the periphery of lung. The cancer was developed in the fibrotic lesion in 23 patients (35.9%), and in the majority of the patients, the cancer was separated from the fibrosis. The cell type of the lung cancer in IPF-CA was squamous cell carcinoma 34.9%, adenocarcinoma 30.2%, small cell carcinoma 19.0%, large cell undifferenciated carcinoma 6.3%, and others 9.5%. No significant difference in the distribution of histologic type of the lung cancer was found between IPF-CA and lone lung cancer. There was no significant difference in demographic features, cell types, location and the stage of the cancer between the group with concurrent IPF-CA and the group with cancer diagnosed during the follow up of IPF. There was a tendency (but statistically not significant : p=0.081) of higher incidence of adenocarcinoma among the cancers developed in the fibrotic area(43.5%) (F-CA) than in the cancers in non-fibrotic area (22.5%) (NF-CA). The prognosis of the patients with F-CA was poor (median survival : 4 months) compared with the patients with NF-CA (7 months, p=0.013), partly because the prevalence of severe IPF (the extent of fibrosis in HRCT 50%) was higher in F-CA group. Conclusion : These data suggest that the lung cancer in the patients with IPF has similar features to the ordinary lung cancer.
Background : The p53 gene codes for a DNA-binding nuclear phosphoprotein that appears to inhibit the progression of cells from the G1 to the S phase of the cell cycle. Mutations of the p53 gene are common in a wide variety of human cancers, including lung cancer. In lung cancers, point mutations of the p53 gene have been found in all histological types including approximately 45% of resected NSCLC and even more frequently in SCLC specimens. Mutant forms of the p53 protein have transforming activity and interfere with the cell-cycle regulatory function of the wild-type protein. The majority of p53 gene mutations produce proteins with altered conformation and prolonged half life; these mutant proteins accumulate in the cell nucleus and can be detected by immunohistochemical staining. But protein overexpression has been reported in the absence of mutation. p53 protein overexpression or gene mutation is reported poor prognostic factor in breast cancer, but in lung cancer, its prognostic significance is controversial. Method : We investigated the p53 abnormalities by nucleotide sequencing, polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP), and immunohistochemical staining. We correlated these results with each other and survival in 75 patients with NSCLC resected with curative intent. Overexpression of the p53 protein was studied immunohistochemically in archival paraffin- embedded tumor samples using the D07(Novocastra, U.K.) antibody. Overexpression of p53 protein was defined by the nuclear staining of greater than 25% immunopositive cells in tumors. Detection of p53 gene mutation was done by PCR-SSCP and nucleotide sequencing from the exon 5-9 of p53 gene. Result: 1) Of the 75 patients, 36%(27/75) showed p53 overexpression by immunohistochemical stain. There was no survival difference between positive and negative p53 immunostaining(overall median survival of 26 months, disease free median survival of 13 months in both groups). 2) By PCR-SSCP, 27.6%(16/58) of the patients showed mobility shift. There was no significant difference in survival according to mobility shift(overall median survival of 27 in patients without mobility shift vs 20 months in patients with mobility shift, disease free median survival of 8 months vs 10 months respectively). 3) Nucleotide sequence was analysed from 29 patients, and 34.5%(10/29) had mutant p53 sequence. Patients with the presence of gene mutations showed tendency to shortened survival compared with the patients with no mutation(overall median survival of 22 vs 27 months, disease free median survival of 10 vs 20 months), but there was no statistical significance. 4) The sensitivity and specificity of immunostain based on PCR-SSCP was 67.0%, 74.0%, and that of the PCR-SSCP based on the nucleotide sequencing was 91.8%, 96.2% respectively. The concordance rate between the immunostain and PCR-SSCP was 62.5%, and the rate between the PCR-SSCP and nucleotide sequencing was 95.3%. Conclusion : In terms of detection of p53 gene mutation, PCR-SSCP was superior to immunostaining. p53 gene abnormalities either overexpression or mutation were not a significant prognostic factor in NSCLC patients resected with curative intent. However, patients with the mutated p53 gene showed the trends of early relapse.
Lee, Sang Hwa;Shim, Jae Jeong;Lee, So Ra;Lee, Sang Youb;Suh, Jung Kyung;Cho, Jae Yun;Kim, Han Gyum;In, Kwang Ho;Choi, Young Ho;Kim, Hark Jei;Yoo, Se Hwa;Kang, Kyung Ho
Tuberculosis and Respiratory Diseases
/
v.44
no.1
/
pp.69-84
/
1997
Background : Although the overall prognosis of patients with lung cancer is poor, highly effective treatment exists for the small subset of patients with early lung cancer(carcinoma in situ/micro- invasive cancer). But very few patients have benefit from them because these lesions are difficult to detect and localize with conventional white-light bronchoscopy. To overcome this problem, a Lung Imaging Fluorescence Endoscopic device(LIFE) was developed to detect and clearly delineate the exact location and extent of premalignant and early lung cancer lesions using differences in tissue autofluorescence. Purpose : The purpose of this study was to determine the difference of sensitivity and specificity in detecting dysplasia and carcinoma between fluorescence imaging and conventional white light bronchoscopy. Material and Methods : 35 patients (16 with abnormal chest X-ray, 2 with positive sputum study, 2 with undiagnosed pleural effusion, 15 with respiratory symptom) have been examined by LIFE imaging system. After a white light bronchoscopy, the patients were submitted to fluorescence bronchoscopy and the findings of both examinations have been classified in 3 categories(class I, II, III). From of all class n and III sites, 79 biopsy specimens have been collected for histologic examination: a comparison between histologic results and white light or fluorescence bronchoscopy has been performed for assessing sensitivity and specificity of the two methods. Results : 1) Total 79 sires in 35 patients were examined. Histology demonstrated 8 normal mucosa, 21 hyperplasia, 23 dysplasia, and 27 microinvasive and invasive carcinoma. 2) The sensitivity of white light or fluorescence bronchoscopy in detecting dysplasia was 60.9% and 82.6%, respectively. 3) The results of this study showed 70.3 % sensitivity for microinvasive or invasive carcinoma with LIFE system, versus 100% sensitivity for white light in 27 cases of carcinoma. The false negative study of LIFE system was 8 cases(3 adenocarcinoma and 5 small cell carcinoma), which were infiltrated in submucosal area and had normal epithelium. Conclusion : To improve the ability 10 diagnose and stage more accurately, fluorescence imaging may become an important adjunct to conventional bronchoscopic examination because of its high detection rate of premalignant and malignant epithelial lesion. But. it has limitation to detect in submucosal infiltrating carcinoma.
Purpose: Acute poststreptococcal glomerulonephritis(APSGN) is a renal disease which is characterized by glomerular proliferation and inflammatory changes due to immune reaction. Although the 95% of patients with APSGN seems to recover fully and present as benign course, the remaining patients show poor prognosis. Therefore comparative retrograde study between APSGN with and without nephrotic syndrome was done to find out the any prognostic indicator to predict the outcome in patients with APSGN. Methods: We had retrospectively analyzed seventy-one patients who were diagnosed as APSGN clinically from Mar.1989 to Feb.1999 in Yonsei university medical center. Sixty-four of the patients was APSGN without nephrotic syndrome(Group A) and seven patients were in APSGN with nephrotic syndrome(Group B). Results: Patients who were diagnosed as APSGN with nephrotic syndrome were seven(9.9%) out of seventy-one. In the comparative study, sex ratio was 1:1 in group A and 1.9: 1 in group B, onset mean age was $8.9{\pm}2.6$ in group A and $8.8{\pm}2.6$ in group B. Following clinical profiles were compared but there were no significant difference between these two groups: WBC count($9413{\pm}2964\;vs\;9368{\pm}2650(/mm^3)$), hemoglobin($10.6{\pm}1.2\;vs\;10.0{\pm}0.9(gm/dL)$), ASO($746.1{\pm}640.7\;vs\;614.9{\pm}475.9(IU/ml)$), $C_3(20.1{\pm}17.0\;vs\;16.9{\pm}13.1(mg/dL)$), $C_4(22.8{\pm}9.5\;vs\;22.6{\pm}6.9(mg/dL)$), BUN($25.8{\pm}26.1\;vs\;28.1{\pm}14.5(mg/dL)$), creatinin($0.8{\pm}0.3\;vs\;0.8{\pm}0.3(mg/dL)$), $C_{cr}(80.6{\pm}28.8{\pm}62.4{\pm}31.4(ml/min/1.73\;m^2$)), the duration of edma, gross hematuria, and hypertension. However, we found that there were a significant difference in the duration of proteinuria($1.95{\pm}2.27\;vs\;13.3{\pm}21.1(months)$)(P<0.05), decreased $C_3$ duration($1.9{\pm}2.9\;vs\;7.3{\pm}5.0(weeks)$)(P<0.05) and especially it was proloned according to the amount of early urine protein excretion. Conclusion: Our study showed markedly prolonged duration of proteinuria and decreased $C_3$ duration in patients with APSGN with nephrotic syndrome. We were not able to find the definite prognostic factor that will guide the outcome of patients with APSGN accompaning nephrotic syndrome, but above findings seemed to represent as a relative indication of the outcome of the disease. All patients recovered completely and we did not experience any cases that progressed into the renal failure.
Lee, Seung Min;Lee, Sung Moon;Tchah, Hann;Jeon, In Sang;Ryoo, Eell;Cho, Kang Ho;Seon, Yong Han;Son, Dong Woo;Hong, Hee Joo
Clinical and Experimental Pediatrics
/
v.48
no.8
/
pp.832-838
/
2005
Purpose : Mycoplasma pneumoniae infection is relatively common in childhood. Its extrapulmonary manifestations have been reported so much, but hepatitis associated with it has been reported rarely in Korea. Methods : A clinical study was performed on 556 patients of M. pneumoniae pneumonia diagnosed serologically at Gil hospital from January 2001 to December 2004. We reviewed 65 cases among these patients, who had elevated level of serum AST and ALT greater than 50 IU/L respectively without evidence of hepatitis A, B, C, Cytomegalovirus and Ebstein-Barr virus infections. Results : Hepatitis occurred in 11.7% of Mycoplasma pneumoniae pneumonia, especially in fall and winter times. Male to female ratio was 1.2 : 1 and the mean age was 4 years and 3 months. Besides hepatitis, cough(95.4%), sputum(52.3%) and dyspnea(12.3%) were common as pulmonary manifestations. And among gastrointestinal manifestations, nausea/vomiting(26.2%) was the most common symptom, followed by poor oral intake(12.3%), diarrhea(12.3%) and abdominal pain(6.2%). In addition to hepatomegaly(4.6%) and splenomegaly(4.6%), coarse breathing sound was the most common physical manifestation, followed by rale(63.1%), pharyngeal injection(26.2%), and rash(10.8%). Anemia was noted in 20.0%, neutrophilia in 10.8%, eosinphilia in 38.5% and thrombocytosis in 6.2%, respectively. Mean level of ESR and CRP was 32.02 mm/hr and 6.69 mg/dL, respectively. Mean level of AST and ALT was 293.80 IU/L and 181.48 IU/L, respectively. Hyperbilirubinemia was noted in 7.7% and hypoalbuminemia was noted in 58.5%. Lobar or lobular pneumonia(78.5%) was the most common finding in chest X-ray and left lower lobe(39.2%) was most commonly affected. Pleural effusion was noted in 26.2%. Mean duration of hospitalization was 9.91 days. Serum AST/ALT level was normalized within 9.94 days and pulmonary consolidation resolved within 14.29 days. Conclusion : The prognosis of M. pneumoniae hepatitis is good. However, liver function should be considerately checked in M. pneumoniae infection because its incidence is not so low.
Background : Idiopathic pulmonary fibrosis (IPF) is a diffuse inflammatory and fibrosing process that occurs within the interstitium and alveolus of the lung with invariably poor prognosis. The major problem in management of IPF results from the variable rate of disease progression and the difficulties in predicting the response to therapy. The purpose of this retrospective study was to evaluate the short-term efficacy of steroid and immunosuppressive therapy for IPF and to identify the pre-treatment determinants of favorable response. Method : Twenty patients of IPF were included. Diagnosis of IPF was proven by thoracoscopic lung biopsy and they were presumed to have active progressive disease. The baseline evaluation in these patients included clinical history, pulmonary function test, bronchoalveolar lavage (BAL), and chest high resolution computed tomography (HRCT). Fourteen patients received oral prednisolone treatment with initial dose of 1mg/kg/day for 8 to 12 weeks and then tapering to low-dose prednisolone (0.25mg/kg/day). Six patients who previously had experienced significant side effects to steroid received 2mg/kg/day of oral cyclophosphamide with or without low-dose prednisolone. Follow-up evaluation was performed after 6 months of therapy. If patients met more than one of followings, they were considered to be responders : (1) improvement of more than one grade in dyspnea index, (2) improvement in FVC or TLC more than 10% or improvement in DLco more than 20% (3) decreased extent of disease in chest HRCT findings. Result : One patient died of extrapulmonary cause after 3 month of therapy, and another patient gave up any further medical therapy due to side effect of steroid. Eventually medical records of 18 patients were analyzed. Nine of 18 patients were classified into responders and the other nine patients into nonresponders. The histopathologic diagnosis of the responders were all nonspecific interstitial pneumonia (NSIP) and that of nonresponders were all usual interstitial pneumonia (UIP) (p<0.001). The other significant differences between the two groups were female predominance (p<0.01), smoking history (p<0.001), severe grade of dyspnea (p<0.05), lymphocytosis in BAL fluid ($23.8{\pm}16.3%$ vs $7.8{\pm}3.6%$, p<0.05), and less honeycombing in chest HRCT findings (0% vs $9.2{\pm}2.3%$, p<0.001). Conclusion : Our results suggest that patients with histopathologic diagnosis of NSIP or lymphocytosis in BAL fluid are more likely to respond to steroid or immunosuppressive therapy. Clinical results in large numbers of IPF patients will be required to identify the independent variables.
Jeong Hyeon Ju;Lee Hyun Ju;Yang Kwang Mo;Suh Hyun Suk;Kim Re Hwe;Kim Sung Rok;Kim Hong Ryong
Radiation Oncology Journal
/
v.16
no.1
/
pp.43-49
/
1998
Purpose : Carcinomas arising in the gall bladder(GB) or extrahepatic biliary ducts are uncommon and generally have a poor prognosis. The overall 5-year survival rates are less than $10\%$. Early experiences with the external radiation therapy demonstrated a good palliation with occasional long-term survival. The present report describes our experience over the past decade with irradiation of primary carcinomas of the gallbladder and extrahepatic biliary duct. Materials and Methods : From Feb. 1984 to Nov. 1995, thirty-three patients with carcinoma of the GB and extrahepatic biliary duct were treated with external beam radiotherapy with curative intent at our institution. All patients were treated with 4-MV linear accelerator and radiation dose ranged from 31.44Gy to 54.87Gy(median 44.25Gy), and three Patients received additional intraluminal brachytherapy(range, 25Gy to 30Gy). Twenty-seven Patients received postoperative radiation. Among 27 patients, Sixteen patients underwent radical operation with curative aim and the rest of the patients either had bypass surgery or biopsy alone. In seventeen patients, adjuvant chemotherapy was used and eleven patients were treated with 5-FU, mitomycin and leucovorin. Results : Median follow up period was 8.5 months(range 2-97 months). The overall 2-year and 5-year survival rates in all patients were $29.9\%$ and $13.3\%$ respectively. In patients with GB and extrahepatic biliary duct carcinomas, the 2-year survival rates were $34.5\%$ and $27.8\%$ respectively. Patients who underwent radical operation showed better 2-year survival rates than those who underwent palliative operation($43.8\%\;vs.\;20.7\%$), albeit statistically insignificant(p>0.05). The 2-year survival rates in Stage I and II were higher than in Stage III and IV with statistical significance(p<0.05). Patients with good performance status in the beginning showed significantly better survival rates than those with worse status(p<0.05). The 2-year survival rates in combined chemotherapy group and radiation group were $40.5\%$ and $22.0\%$ respectively. There was no statistical differences in two groups (p>0.05). Conclusion : The survival of patients with relatively lower stage and/or initial good performance was significantly superior to that of others. We found an statistically insignificant trend toward better survival in patients with radical operation and/or chemotherapy, More radical treatment strategies, such as total resection with intensive radiation and/or chemotherapy may offer a better chance for cure in selective patients with carcinoma of gall bladder and extrahepatic biliary ducts.
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