• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.55-62
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• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.

• Childhood Kidney Diseases
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• v.6 no.1
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• pp.102-108
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• 2002

We report two cases of hemolytic uremic syndrome (HUS) associated with Escherichia coli O114. Two cases were similar and showed the same clinical courses. After prodrome of diarrhea and vomiting lasting 1-2 days, azotemia persisted for about 10 days, and during that period, the patients were on peritoneal dialysis. They recovered without any sequelae after about 15 days. Direct multiplex PCR of stool culture revealed eae and stx2 gene and the result of ELISA done on the colony positive of one gene confirmed Escherichia coli O114. This is the first report of HUS associated with Escherichia coli O114. We recommend, Shiga toxin producing bacterial Infection must be considered and efforts should be made to scrutinize the organism in all diarrhea-prodrome HUS patients.(J Korean Soc Pediatr Nephrol 2002 ;6 : 102-8)

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.56-60
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• 2009

Purpose : This study aimed to test whether rotavirus-associated necrotizing enterocolitis (RV+NEC) produced different clinical findings or outcomes from those of non-rotavirus necrotizing enterocolitis (RV-NEC). Methods : Eight patients from the RV+NEC group and 22 patients from the RV-NEC group diagnosed with modified Bell stage II or higher NEC were selected for this study. Fecal specimens from all infants were tested for rotavirus infection using a monoclonal antibody-based enzyme immunoassay (EIA). Clinical, radiographic, and clinical outcome data were analyzed retrospectively. Results : RV+NEC infants had a significantly higher birth weight and were born at a significantly higher gestational age ($33.5{\pm}3.3$ weeks vs. $29.3{\pm}4.4$ weeks; P=0.01). There were no differences in the occurrence of thrombocytopenia, mural gas, and pneumoperitoneum between the 2 groups. However, portal vein gas was more common in the RV+NEC group (88% vs. 9%; P<0.01). Neither the incidence of Bell stage III (or higher) NEC nor surgical intervention differed between the two groups. The number of complications and mortality rates were also similar. Conclusion : Rotavirus-associated NEC occurs in infants with a higher birth weight and those born at a greater gestational age. However, the severity of the condition and the resulting outcomes did not differ from those for infants affected by non-rotavirus NEC.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.227-232
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• 2008

A 16-year-old girl presented with proteinuria and microscopic hematuria detected through mass urinary screening and was diagnosed as having suspected postinfectious glomerulonephritis by renal biopsy. However, heavy proteinuria did not respond to angiotensin converting enzyme inhibitor therapy. After 6 months, cervical lymphadenitis developed and a neck node biopsy showed subacute necrotizing lymphadenitis. After an additional 2 months, she developed facial erythema and thrombocytopenia. A repeat renal biopsy demonstrated lupus nephritis class IV. She was treated with pulse methylprednisolone(500 mg/day intravenously for 3 consecutive days) followed by oral deflazacort and monthly intravenous cyclophosphamide pulse(1 g/$m^2$) for 6 months. We report a case diagnosed as systemic lupus erythematosus(SLE) during medical follow-up after urinary screening.

• Tuberculosis and Respiratory Diseases
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• v.45 no.2
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• pp.429-436
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• 1998

Approximately 100 drugs have been reported to affect the lungs adversely. Among these, pulmonary toxicity caused by antieneoplastic agent. is being recognized more frequently. Cyclophosphamide is an immunosuppressive alkylating agent used for the treatment of a wide variety of malignant and nonmalignant diseases. The incidence of pulmonary toxicity is probably less than 1 percent The first case was reported in 1967. Since then, more than 20 well-documented cases of pulmonary toxicity associated with cyclophosphamide have been reported in the literature. In Korea, three patients were identified with cyclophosphamide-induced lung disease. The typical features of toxicity include dyspnea, fever, cough, new parenchymal infiltrates, gas exchangs abnormalities on pulmonary function tests, and pleural thickening on chest roentgenogram. The best approach to management is early diagnosis, discontinuation of the offending drug and administration of corticosteroid therapy. Recently, we experienced a case of diffuse alveolar damage induced by cyclophosphamide. The patient presented with early-onset pulmonary toxicity and died of repiratory failure despite early use of corticosteroid.

• Journal of Yeungnam Medical Science
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• v.6 no.1
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• pp.21-29
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• 1989

A clinical study was made on 71cases of Mycoplasma pneumoniae pneumonia from March, 86 to February, 89. The results were as follows; 1. Among the 315 cases of pneumonia, the incidence of mycoplasmal infection was 22.5%. 2. The peak incidence of age was between 5 to 9years of age(53.5%). 3. The sex ratio of male to female was 1.3:1. 4. Monthly distribution showed relatively high frequency from October to January(59.2%). 5. Most common clinical symptoms were cough(98.6%)and then followed by fever(49.3%), coryza(19.7%). Rales were the most common finding(95.7%) and followed by pharyngeal injection (49.3%) and wheezing(18.3 %). 6. The leukocyte counts in peripheral blood were most common in the range of 5000-10000/$mm^3$(47.9%) and the ESR was increased in 57.7%, and positive CRP cases were 87.3%. 7. The most common radiologic finding of pulmonary infiltration was interstitial infiltration(45.1) and then followed by disseminated lobular(39.4%) and lobar pneumonia(15.5%). 8. There are a few cases associated disease or complication: otitis media (5.6%), hepatitis(4.2%) acute glomerulonephritis. bronchial asthma and sinusitis(2.8%), thrombocytopenia(1.4%).

• Tuberculosis and Respiratory Diseases
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• v.52 no.3
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• pp.230-240
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• 2002

Background : The majority of chemotherapy-treated small cell lung cancers(SCLC) patients eventually recur. Although many patients are in excellent physical condition at the time of recurrence, few drugs or drug combinations are capable of effecting a tumor regression in this setting. Topotecan, a topoisomerase I inhibitor, is one of the more widely studied single afents in SCLC. The aim of this study was to determine the response rate, survival and toxicity of topotecan as a second line traeatment SCLC. Materials and Methods : 19 patients with measurable SCLC, progressive during the first line chemotherapy (9 cases) or recurrent after the first line chemotherpy(10 cases), were enrolled in this study. Topotecan was administered as a 30-minute daily infusion at a dose of 1.5mg/$m^2$ for 5 consecutive days, every 3 weeks. Results : The overall response rate was 26.3%(5/19, CR 2, PR 3, SD 3, PD 11). The median survival was 24 weeks. The response rate and survival were poor in the nonresponders during first chemotherapy, those who were refractory to the first chemotherapy(recurrent within 3 months after completion of first chemotherapy) and extensive disease, but the results were not statistically significant. The toxicities were mainly hematologic and anemia grade III 1/90, leukopenia grade III 6/90 IV 4/90, thrombocytopenia grade III 1/90 IV 1/90, vomiting grade III 1/90 of cycles were occurred. There was no treatment-related deaths due to severe myelosuppression. Conclusion : Topotecan can be an active second line chemotherapeutic agent for treating SCLC.

• Tuberculosis and Respiratory Diseases
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• v.63 no.2
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• pp.154-164
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• 2007

Background: Irinotecan hydrochloride, a topoisomerase I inhibitor, is effective against small-cell lung cancer. Irinotecan also can act as a potential radiation sensitizer along with cisplatin. To evaluate efficacy and toxicity of irinotecan plus cisplatin (IP) with concurrent thoracic radiotherapy, we conducted a phase II study of IP followed by concurrent IP plus hyperfractionated thoracic radiotherapy in patients with previously untreated limited-stage small-cell lung cancer. Methods: Twenty-four patients with previously untreated small-cell lung cancer were enrolled onto the study since November 2004. Irinotecan $60mg/m^2$ was administered intravenously on days 1 and 8 in combination with cisplatin $60mg/m^2$ on day1 every 21 days. From the first day of third cycle, twice-daily thoracic irradiation (total 45 Gy) was given. Prophylactic cranial irradiation was given to the patients who showed complete remission after concurrent chemoradiotherapy. Restaging was done after second and sixth cycle with chest CT and/or bronchosocpy. Results: Up to November 2004, 19 patients were assessable. The median follow-up time was 12.5 months. A total of 99 cycles (median 5.2 cycles per patient) were administered. The actual dose intensity values were cisplatin $19.6mg/m^2$/week and irinotecan $38.2mg/m^2$/week. Among the 19 patients, the objective response rate was 95% (19 patients), with 9 patients (47%) having a complete response (CR). The major grade 3/4 hematological toxicities were neutropenia (35% of cycles), anemia (7% of cycles), thrombocytopenia (7% of cycles). Febrile neutropenia was 4% of cycles. The predominant grade 3/4 non-hematological toxicities was diarrhea (5% of cycles). Toxicities was not significantly different with concurrent administration of irinotecan and cisplatin with radiotherapy, except grade 3/4 radiation esophagitis (10% of patients). No treatment-related deaths were observed. The 1-year and 2-year survival rate of eligible patients was 89% (16/18) and 47% (9/18), respectively. Conclusion: Three-week schedule of irinotecan plus cisplatin followed by concurrent IP plus hyperfractionated thoracic radiotherapy is an effective treatment for limited disease small-cell lung cancer, with acceptable toxicity.

• Journal of Biomedical Engineering Research
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• v.19 no.1
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• pp.59-68
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• 1998

Digital hearing aids offer many advantages over conventional analog hearing aids. With the advent of high speed digital signal processing chips, new digital techniques have been introduced to digital hearing aids. In addition, the evaluation of new ideas in hearing aids is necessarily accompanied by intensive subject-based clinical tests which requires much time and cost. In this paper, we present an objective method to evaluate and predict the performance of hearing aid systems without the help of such subject-based tests. In the hearing impairment simulation(HIS) algorithm, a sensorineural hearing impairment medel is established from auditory test data of the impaired subject being simulated. Also, the nonlinear behavior of the loudness recruitment is defined using hearing loss functions generated from the measurements. To transform the natural input sound into the impaired one, a frequency sampling filter is designed. The filter is continuously refreshed with the level-dependent frequency response function provided by the impairment model. To assess the performance, the HIS algorithm was implemented in real-time using a floating-point DSP. Signals processed with the real-time system were presented to normal subjects and their auditory data modified by the system was measured. The sensorineural hearing impairment was simulated and tested. The threshold of hearing and the speech discrimination tests exhibited the efficiency of the system in its use for the hearing impairment simulation. Using the HIS system we evaluated three typical hearing aid algorithms.

• Tuberculosis and Respiratory Diseases
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• v.43 no.1
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• pp.22-29
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• 1996

Background: Abnormalities of the peripheral blood are frequent and varied in patients with miliary tuberculosis. Anemia, leukopenia, thrombocytopenia, pancytopenia, monocytosis, basophilia, eosinophilia and leukemoid reactions have been reported. These abnormalities are more frequent in patients with positive bone marrow study. In this report, we evaluated clinical, hematological and immunological features in patients with miliary tuberculosis in order to know whether difference is existed between "bone marrow biopsy positive group(pathologically proven to miliary tuberculosis)" and "negative group". Method: Clinical evaluation, serum ADA, sIL-2R, and T-lymphocyte subsets were measured in 40 patients with miliary tuberculosis who received bone marrow biopsy. Results: 1) The average age of patients was 39 year-old. There were 23 male and 17 female patients. Associated extrapulmonary tuberculosis are 9 CNS tuberculosis, 6 joint tuberculosis, and 2 tuberculous pleurisy. 2) Sixteen of the 40 patients were positive bone marrow biopsy(60%). 3) Sixteen of the 40 patients(60%) had anemia(11 positive patients: 13 negative patients). Leukopenia occurred in 12 per cent(4:1). Thrombocytopenia was noted in 10%(3:1). 4) The mean value of serum ADA was 83 U/L(90 U/L: 70.6 U/L, p=0.23). 5) The mean activity of Soluble IL-2 receptor was 4,643 pmol/L($6840{\pm}7446\;pmol/L$: $1,897{\pm}1,663\;pmol/L$, p=0.06). 6) In the T lymphocyte subsets, the percent of T-lymphocytes was 64%(62%:73%, p=0.2). In some patients(9), $T_4$ and $T_8$ ratio in BAL fluid($1.97{\pm}1.2$) was higher than that in the peripheral blood($1.16{\pm}0.5$). Conclusion: Bone marrow examination are diagnostic in 60% of cases of miliary tuberculosis. Percents of the total T lymphocyte and helper T cell in BAL are more elevated than in peripheral blood. There was no significant difference in peripheral blood abnormalities and marker of T lymphocyte activation between the bone marrow biopsy positive and negative group.