• Journal of Genetic Medicine
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• v.7 no.2
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• pp.133-137
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• 2010

Purpose: Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This study evaluated the applicability of a methylation-specific (MS) PCR RFLP method for the genetic diagnosis of BWS. Materials and Methods: A total of 12 patients were recruited based on clinical findings. Karyotyping was performed using peripheral blood leukocytes, and genomic DNA was treated with bisulfate and amplified using methylation-specific primers. RFLP was conducted with restriction enzymes in differentially methylated regions of LIT1, H19, and IGF2. Results: The 12 BWS patients had normal karyotypes. Abnormal methylation patterns in the BWSIC2 (LIT1) region were identified in seven patients (58.3%) using the MS-PCR RFLP method. Conclusions: The MS-PCR RFLP method is a simple, economical genetic test. It detected genetic abnormalities in 50-60% of BWS patients, suggesting that it can be used as a screening test. A more precise method is required, however, to enhance the detection rate of genetic abnormalities, especially in BWSIC1 region.

• Journal of Yeungnam Medical Science
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• v.6 no.2
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• pp.195-205
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• 1989

Development of drug resistance in tumors during treatment is a major factor limiting the clinical use of anticancer agents. When tumor cells acquire resistance to anticancer drug, they show cross-resistance to other antitumor agents. In the present study, SNU-1 cell was induced adriamycin $10^{-7}M$ drug resistance, SNU-1/ADR, in vitro culture system. We got the doubling time and number for viability test during 96 hours by MTT assay. To investigate the cross resistance of various anticancer drugs in human stomach cancer cell SNU-1 and SNU-1/ADR. We compared $IC_{50}$ (drug concentration of 50% reduction) and the relative resistance(RR). SNU-1/ADR was expressed multidrug resistant with vinblastine(RR ; 31.62), vincristine(RR ; 29.50), dactinomycin(RR ; 21.37), epirubicin(RR ; 17.78), daunorubicin(RR ; 14.12), adriamycin(RR ; 7.76), and etoposide(RR ; 4.46), and other drugs, 5-fluorouracil, cisplatin, cyclophosphamide, methotrexate, and aclarubicin, have not cross resistant with adriamycin. There was double minute chromosome in SNU-1/ADR by karyotyping although this change was not seen in SNU-1.

• Journal of the korean academy of Pediatric Dentistry
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• v.39 no.2
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• pp.161-165
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• 2012

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney, brain and musculoskeletal system, and occurs predominantly in males. The patient with Lowe syndrome is characterized with congenital cataracts, glaucoma, prominent forehead, thin and sparse hair, mental and growth retardation, muscular hypotonia, renal dysfunction, and metabolic bone disease. We have experienced a 10-year-old boy with Lowe syndrome who had poor oral hygiene and trouble for teeth brushing. To manage his behavior and systemic metabolic disorder, sedation was performed during dental care. Excessive calculus formation in this patient is caused by both medication and lack of ability to maintain oral hygiene. The dental management of those patients has to be focused on prevention due to difficulties in dental treatment and dangers of general anesthesia for the Lowe syndrome.

• Clinical and Experimental Pediatrics
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• v.49 no.2
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• pp.150-156
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• 2006

Purpose : The aims of this study included assessment of molecular-epidemiologic features during an outbreak of colonization of extended spectrum ${\beta}$-lactamase producing Klebsiella pneumoniae(ESBL-KPN) and re-evaluation of their colonized status one year later. Methods : Rectal swab cultures for ESBL-KPN from all hospitalized infants and newly admitted infants were obtained during the outbreak of colonization from July to December, 2000. The pattern of XbaI-digested chromosomal DNA of isolates were analyzed by pulsed-field gel electrophoresis. Weekly rectal swab cultures were obtained during the outbreak until patients were either discharged or decolonized. Patients discharged after being colonized had follow up stool cultures a year later. Results : A total of 80 patients(28.5 percent) were colonized. Of those, 53 whose pulsed-field gel electrophoresis(PFGE) was possible only once, were ESBL-KPN grouped into six cluster clones and 10 single clones : 28 patients(52.8 percent) were colonized with type A, the most common clone, followed by type B in 11 patients(20.8 percent). Of those 12 patients in whom serial PFGE was done more than twice, type A was predominant. Narrowed-down in strains occurred from types A, B, C, D and three single clones at initiation of the study into types A and type B after three months of strict infection control. Among 75 patients(93.7 percent) who were sent home after being colonized, 30 patients were re-called for stool cultures a year later : All of them were decolonized. Conclusion : This study demonstrates the importance of infection control as the diversity of ESBL-KPN strains could be narrowed into fewer strains. Colonization of ESBL-KPN could be reversed upon return to the community.

• Korean Journal of Clinical Laboratory Science
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• v.50 no.2
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• pp.118-125
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• 2018

Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (MTB), but the genes associated with the host immune system can be attributed to the development of TB. The ITGB2 gene encodes the integrin beta 2 chain CD18 protein and is present on chromosome 21. The integrin beta 2 chain is an integrin expressed in leukocytes and plays a very important role in leukocyte maturation and attachment. ITGB2 plays an important role in the phagocytosis of MTB and the aggregation of leukocytes in MTB infections. This study examined the genetic polymorphisms of the ITGB2 gene between the TB case and normal control using Korean genomic and epidemiologic data. As a result, a statistically significant correlation was confirmed in 10 SNPs. The most significant SNP was rs113421921 (OR=0.69, CI: 0.53~0.90, $P=5.8{\times}10^{-3}$). In addition, rs173098, one of the significant 10 SNPs, is possibly located in a binding motif with the transcription factor cofactor p300, and can affect ITGB2 gene expression. These findings suggest that the pathogenesis of TB may be influenced by a range of genetic factors related to the immune function of the host, e.g., the reactions associated with the recruitment and attachment of leukocytes. The results of this study could be used to predict the infection control for tuberculosis in a patient-tailored manner.

• Journal of Embryo Transfer
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• v.21 no.3
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• pp.169-175
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• 2006

The objective of this study was carried out to examine the polar body extrusion of in vitro matured porcine follicular oocytes as a non-invasive marker of oocyte quality to know the developmental competence in advance. The porcine oocytes matured for 48 hours were examined the polar body extrusion and some parts were stained. The examined oocytes were matured for additional $16{\sim}18$ hours and activated with 7% ethanol and cultured in $5{\mu}g/ml$ cytochalasin B for 5 hours for diploid formation. The treated oocytes were washed and cultured for 7 days. The polar body extrusion and degeneration rates were varied with $9.9{\sim}52.4%$ and $21.4{\sim}61.8%$ by repetition. The polar body extruded oocytes were shown the polar body chromosome and metaphase II plate by staining. However the non-extruded oocytes were shown expanded nucleus with 39.1%, premature chromosome condensation with 19.6%, metaphase I plate with 10.9 %, metaphase II with 13%, condensed chromatin with 6.5%, and absent nuclear material with 8.7%. The oocytes that were not examined for the polar body extrusion were cleaved 45.0%, and developed to blastocyst stage with 11.3%. In examined oocytes for polar body extrusion,. the polar body extruded oocytes were cleaved 94.2% and developed with 42.5%. This result suggests that discarding of the degenerating oocytes and oocytes that not extruded polar body will be effective for experiments of culturing effect in porcine embryos and embryo biotechnology.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.23-29
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• 2018

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonemia. CPS1D is caused by mutations in the CPS1 gene on chromosome 2q35. Based on the age of onset, there are two phenotypes: the neonatal type and the delayed-onset type. The severity of clinical manifestation depends on the degree of CPS1 residual enzymatic activity, and can result in hyperammonemia and neurological dysfunction. We report a case of CPS1D in a neonate who developed vomiting, decreased consciousness and hyperammonemia at 25th day after birth. She showed excellent response to treatment including hydration, ammonia-lowering drugs and a low-protein diet without hemodialysis. Her growth, development and neurological outcomes were fair at the last follow-up at 17 months of age.

• Journal of Society of Preventive Korean Medicine
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• v.9 no.2
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• pp.59-75
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• 2005

The experiments were undertaken to evaluate the effects of Bosaengtang in pregnant rats and fetuses. Female Sprague-Dawley rats were orally administered with Bosaengtang at the dose of 5mg/kg/day for 20 days. Pregnant rats were sacrificed at the 20th day of gestation, and observed internal and reproductive organs. Fetuses were randomly selected and fixed in 95% ethanol. Fetuses were stained with alcian blue and alizarin red S, and observed skeletal malformations. The results obtained were as follows : Bosaengtang administered group showed higher maternal body weight than the control group, but both groups showed increase in weight. Bosaengtang administered group showed lower than the control group, and higher liver and kidney weight than the control group, but the differences were minimal. There were no significant changes between the control and treated group in blood chemistry values and hematological values but all the groups were within in normal ranges. There were no significant changes in the number of corpus luteum, implantation, live fetus and implantation rate, delivery rate, late resorption rate, sex ratio, but Bosaengtang administered group showed higher early resorption rate than control group. comparing the control and Bosaengtang group, neonatal body weight and the number of fetuses were increased in Bosaengtang group. The fetuses of dams treated with Oriental medicine didn't showed external malformation. Vertebral and sternal variations were observed in Bosaengtang group, but the differences were not apparent compared to the control group. The number of ribs, cervical, thoracic and lumbar vertebrae were normal. The number of sacral was similar and the number of caudal was increased. Fetuses showed significant difference in the number of caudal vertebrae. (P<0.01) From these results, we can carefully conclude that Bosaengtang showed beneficial effects on maternal body weight, early resorption rate, number of live fetus. There were no significant changes in organ weight, hematoscopy, reproduction organs. External malformation wasn't visible. Skeletal variations were showed in vertebrae and sternum but compared to the control group, these variations weren't much different.

• Tuberculosis and Respiratory Diseases
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• v.46 no.4
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• pp.523-532
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• 1999

Background: With the development of the molecular biological methods, studies of the early diagnosis of lung cancer and the detection in the preneoplastic state by using genetic probes in the high risk groups are widely investigated. In lung cancer, squamous cell carcinoma is considered to progress from the normal bronchial mucosa to the preneoplastic state, and finally to the invasive carcinoma. In this study, we investigated the expression of p53 and c-erbB2 in the normal bronchi and the cancer tissues in patients with squamous cell lung cancer to evaluate the possibility of using these immunohistochemical markers as the diagnostic and prognostic parameters of patients with squamous cell lung cancer. Method: The normal and cancerous bronchial tissues of 25 patients with squamous cell carcinoma of the lung, surgically resected from May 1995 to November 1996, were immunohistochemically stained with the monoclonal antibodies to p53(DAKO-p53) and c-erbB2(phamingen 15821A) respectively. We compared the expression status of these markers between the normal bronchial mucosa and the tumor tissue, and also investigated the relationship between the expression status of these markers in tumor tissues and the pathological stage, and the survival time. Results: The pathological stage was as follows; stage I, II were found in 5 patients respectively, stage IIIA was in 8 patients, stage IIIB was in 4 patients, and stage IV was in 3 patients. The expression rate of p53 in the squamous cell lung cancer was 48%, and it was not expressed in the normal bronchial mucosa. The expression status was increased as the pathological stage advanced(p=0.0091 by test of trend). But there were no relationship between the expression of p53 and the median survival time. C-erbB2 did not yield a significantly meaningful result. Conclusion: p53 was not found in the normal bronchial mucosa, but it was expressed in 48% of the tumor tissue. And the expression rate increased as the pathological stage advanced. So it would be helpful to apply the immunochistochemical stain with p53 in the bronchial biopsy specimen in the early diagnosis trial or staging of squamous cell lung cancer.

• 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.