• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Radiation Oncology Journal
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• v.11 no.1
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• pp.149-158
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• 1993

This is a retrospective analysis of 135 patients with invasive carcinoma of the uterine cervix treated with curative radiotherapy from March 1983 through October 1989 at the Department of Therapeutic Radiology, Kang-Nam 51. Mary's Hospital. Among them, 78 patients received radiotherapy alone and 42 patients treated with neoadjuvant chemotherapy followed by radiotherapy and 15 patients were lost to follow up. All patients had follow up from 2 to 106 months (median; 62 months). Age of the patients ranged from 32 to 79 years at presentation (median; 59 years). According to FIGO classification, there were 20 ($16.7{\%}$) in stage IB, 19 ($15.8{\%}$) in stage IIA,49 ($40.8{\%}$) in stage IIB, 5 ($4.2{\%}$) in stage IIIA, 13 ($10.8{\%}$,) in stage IIIB,14 ($11.7{\%}$) in stage IVA. The pathological classification showed 96 ($80.0{\%}$) squamous cell carcinomas, 5 ($4.2{\%}$) adenocarcinomas and 19 ($15.8{\%}$) proven by cytology. The overall 5-year survival rates was $50.8{\%}$, and the 5-year survival rates by stage IB, IIA, IIB, IIIA, IIIB, IVA was $47.7{\%},\;70.2{\%},\;64.1{\%},\;40.0{\%},\;23.1{\%},\;14.3{\%}$, respectively. The 5-year survival rates was noted $51.2{\%}$ of radiotherapy alone and $50.4{\%}$of neoadjuvant chemotherapy followed by radiotherapy. The overall failure rate was $18.3{\%}$(22/120) including $11.7{\%}$ (14/120) locoregional failure, $5.8{\%}$ (7/120) distant metastasis and $0.8{\%}$(1/120) locoregional failure with distant metastasis. Treatment failure rates by the stages were $15{\%}$ (3/20) in stage IB. $10.5{\%}$ (2/19) in stage IIA, $10.2{\%}$, (5/49) in stage IIB, $20{\%}$ (1/5) in stage IIIA, $61.5{\%}$(8/13) in stage IIB, and $28.6{\%}$ (4/14) in stage IVA. The overall complication rate was $34.2{\%}$(41/120) including wet desquamation $7.5{\%}$, (9/120), diarrhea $6.7{\%}(8/120), radiation proctitis $5.8{\%}$(7/120) in decreasing order. A multivariate analysis of factors influencing the survival showed patient age (p < 0.0291), FIGO stage (p<0.0001), Karnofsky performance status (p<0.0043), initial hemoglobin level (p<0.0001), and intracavitary radiation (p<0.0004), but, no significancy in histology (p<0.29) and treatment method (p < 0.87).

• Tuberculosis and Respiratory Diseases
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• v.48 no.1
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• pp.14-23
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• 2000

Background: The evaluation of candidates for successful lung resection is important. Our study was conducted to determine the preoperative predictors of postoperative mortality and morbidity in lung cancer patients with impaired lung function. Method; Between October 1, 1995 and August 31, 1997, 36 lung resection candidates for lung cancer with $FEV_1$ of less than 2L or 60% of predicted value were included prospectively. Age, sex, weight loss, hematocrit, serum albumin, EKG and concomitant illness were considered as systemic potential predictors for successful lung resection. Smoking history, presence of pneumonia, dyspnea scale(l to 4), arterial blood gas analysis with room air breathing, routine pulmonary function test were also included for the analysis. In addition, predicted postoperative(ppo) pulmonary factors such as ppo-$FEV_1$ ppo-diffusing capacity(DLco), predicted postoperative product(PPP) of ppo-$FEV_1%{\times}$ppo-DLco% and ppo-maximal $O_2$ uptake($VO_2$max) were also measured. Results: There were 31 men and 5 women with the median age of 65 years(range, 44 to 82) and a mean $FEV_1$ of $1.78{\pm}0.06L$. Pneumonectomy was performed in 14 patients, bilobectomy in 8, lobectomy in 14. Pulmonary complications developed in 10 patients; cardiac complications in 3, other complications(empyema, air leak, bleeding) in 4. Twelve patients were managed in the intensive care unit for more than 48 hours. Two patients died within 30 days after operation. The ppo-$VO_2$max was less than 10 ml/kg/min in these two patients. MVV was the only predictor for the pulmonary complications. However, there was no predictor for the post operative death in this study. Conclusions: Based on the results, MVV was the useful predictor for postoperative pulmonary complications in lung cancer resection candidates with impaired lung function In addition, ppo-$VO_2$max value less than 10 ml/kg/min was associated with postoperative death, so exercise pulmonary function test could be useful as preoperative test. But further studies are needed to validate this result.