• Clinical and Experimental Reproductive Medicine
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• v.27 no.3
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• pp.307-311
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• 2000

Objective: To report the successful delivery in a patient of recurrent spontaneous abortion caused by chromosomal abnormality. Material and Method: Case report. Results: Twelve oocytes were obtained by in vitro fertilization. Of eleven oocytes fertilized, two embryos turned out to be normal by using fluorescent in situ hybridization on blastomere biopsy. The patient succeeded in pregnancy and the result of amniocentesis was found to be normal. She delivered the healthy female baby by cesarean section. Conclusions: The successful delivery is possible in recurrent spontaneous abortion related with reciprocal translocation by using preimplantation genetic diagnosis.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• Genomics & Informatics
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• v.15 no.3
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• pp.87-97
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• 2017

Multiple myeloma (MM) is a malignant disease caused by an abnormal proliferation of plasma cells, of which the prognostic factors include chromosomal abnormality, ${\beta}$-2 microglobulin, and albumin. Recently, the term chromothripsis has emerged, which is the massive but highly localized chromosomal rearrangement in response to a one-step catastrophic event. Many studies have shown an association of chromothripsis with the prognosis in several cancers; however, few studies have investigated it in MM. Here, we studied the association between chromothripsis-like patterns and treatment resistance or prognosis. First, we analyzed nine MM cell lines (U266, MM.1S, RPMI8226, KMS-11, KMS-12-BM, KMS-12-PE, KMS-28-BM, KMS-28-PE, and NCI-H929) and bone marrow samples of four patients who were diagnosed with MM by next-generation sequencing-based copy number variation analysis. The frequency of the chromothripsis-like pattern was observed in seven cell lines. We analyzed the treatment-induced chromothripsis-like patterns in KMS-12-BM and KMS-12-PE cells. As a result, breakpoints and chromothripsis-like patterns were increased after drug treatment in the relatively resistant KMS-12-BM. We further analyzed the patients' results according to the therapeutic response, which was divided into sensitive and resistant, as suggested by the International Myeloma Working Group. The chromothripsis-like pattern was more frequently observed in the resistant group. In the sensitive group, the frequency of the chromothripsis-like pattern decreased after treatment, whereas the resistant group showed increased chromothripsis-like patterns after the treatment. These results suggest that the chromothripsis-like pattern is associated with treatment response in MM.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.135-138
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• 2011

The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.37 no.6
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• pp.550-555
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• 2011

Chromosomal loss of heterozygosity (LOH) is a common mechanism for the inactivation of tumor suppressor genes in human epithelial cancers. LOH patterns can be generated through allelotyping using polymorphic microsatellite markers; however, owing to the limited number of available microsatellite markers and the requirement for large amounts of DNA, only a modest number of microsatellite markers can be screened. Hybridization to single nucleotide polymorphism (SNP) arrays using Affymetarix GeneChip Mapping 10 K 2.0 Array is an efficient method to detect genome-wide cancer LOH. We determined the presence of LOH in oral SCCs using these arrays. DNA was extracted from tissue samples obtained from 10 patients with tongue SCCs who presented at the Hospital of Tokyo Dental College. We examined the presence of LOH in 3 of the 10 patients using these arrays. At the locus that had LOH, we examined the presence of LOH using microsatellite markers. LOH analysis using Affymetarix GeneChip Mapping 10K Array showed LOH in all patients at the 1q31.1. The LOH regions were detected and demarcated by the copy number 1 with the series of three SNP probes. LOH analysis of 1q31.1 using microsatellite markers (D1S1189, D1S2151, D1S2595) showed LOH in all 10 patients (100). Our data may suggest that a putative tumor suppressor gene is located at the 1q31.1 region. Inactivation of such a gene may play a role in tongue tumorigenesis.

• Toxicological Research
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• v.3 no.1
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• pp.15-26
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• 1987

The mutagenicity of pranoprofen, a new antiinflammatory agent primarily used in Japan, was evaluated by employing several different methods such as the Ames test, micronucleus test, and the sister chromatid exchange test. For the Ames test, various doses of pranoprofen (5 and 1 mg, 100, 10, and 1 ${\mu}$g per plate) were applied, with or without the mammalian liver S-9 fraction, to the S. typhimurium LT2. For the micronucleus test, 24 hours after administering the various doses of pranoprofen (200, 100, and 50 mg/kg) to male mice by aral intubation, the femura of each group were isolated and the bone marrow samples were prepared. The micronucleated red cells and the ratio of the polychromatic versus the normochroomatic cells were counted. For the sister chromatid exchange test, the maximal non-cytotoxic concentrations (10 to 0.1 mM pranoprofen) were applied to the culture media of the Chinese Hamster Ovary (CHO) cells for 24 hrs. The numbers of revertant colonies did not increase with the increasing doses of pranoprofen when teseted with various strains of S. typhimurium. In the micronucleus test employing mice, the pranoprofen was identkfied to be a non-clastogen and a non-spindle poison. In the sister chromatid exchange test employing the cultured CHO cells, the pranoprofen did not increase the incidences of chromosomal abnormality. Based on these results, pranoprofen was found to have no mutagenic activity.

• Proceedings of the KSAR Conference
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• 2001.03a
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• pp.6-6
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• 2001

Oocyte freezing has become a prevalent source for related reproductive technologies. This study was carried out to evaluate viability of post-thawed bovine oocyte injected DTT-treated sperm following by two different activation stimuli (Group 1, 5 M ionomycin, 5 min ＋ CR1aa, 3 h . 1.9 mM dimetylaminopurine (DMP), 3 h; group 2, ionomycin ＋ 10 $\mu\textrm{g}$/$m\ell$ cycloheximide(CHX), 5h). The techniques of ultra-rapid freezing used in this study were essentially similar to those of described by Vajta et al (Theriogenology 1999; 52:939-948), Denuded oocytes at 22 h of culture were exposed to cryoprotectant (3.2 M Ethylene glycol, 2.36 M DMSO, 0.6 M sucrose), and followed by freezing in electron microscopic grid. After thawing the oocytes were transferred back into the drop of maturation medium and cultured for additional 2 h before being subjected to ICSI. All eggs were then cultured in CRlaa medium, and transferred into M199+10% FCS on day 4. The culture was maintained until day 9. In Experiment 1, frozen-ICSI eggs were compared on development into blastocyst to those of unfrozen and IVF control. Those eggs were activated with the method of group 2. A higher proportion of unfrozen-ICSI and IVF eggs developed into cleavage and blastocysts than of frozen-ICSI eggs (65% and 13%; 71% and 23% vs. 39% and 8%; P<0.05). In Experiment 2, development and ploidy of embryos made from group 1 were compared to those from group 2. Between groups there did not differ on the rates of development, however, chromosomal abnormality in group 1 was significantly higher than in group 2 (49% vs. 30%; P<0.05). The present result suggests that frozen bovine oocytes can be used for ICSI.

• Journal of the Korean Institute of Oriental Medical Informatics
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• v.11 no.1
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• pp.52-57
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• 2005

Objectives : Recurrent pregnancy loss occurs in approximately 0.5-3% of women. There are many studies concerning immunological factor recently. Therefore, aim of this study is to examine the latest trend of researches concerning recurrent pregnancy loss, and controlled experiment on animals about antiphospholipid antibody. Method : We referred Pubmed site by using searching word of 'recurrent pregnancy loss' (Limits : 2000.1-2004.3, animal) Results and conclusions : 1. We searched 29 papers. Immunological factor : 18 ( about antiphospholipid antibody : 10 ), Chromosomal abnormality : 6, The others : 5 2. In five papers about controlled experiment on animals, (1) Materials : 8-12 weeks old mice / 11.5-day old-rat embryos / New Zealand rabbit (2) Inductions : inject intraperitoneally with human IgG containing antiphospholipid antibodies / culture in a solution of 1 ml medium which contained IgG purified from sera of women / inject intradermally with cardiolipin (3) Treatments : inject intraperitoneally with complement component before / culture in a solution of 1 ml medium which contained IgG purified from sera of women with SLE and RPL or from healthy women / inject intradermally with TFX, 0.9% NaCl (4) Measurements : weight fetuses and placentas, calculate frequency of fetal resorption / after culture, examine the embryos / examine platelet counts, APTT and numbers of live and dead newborns, resorbed fetuses, body mass, newborn viability and survival rates.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1141-1145
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• 2002

Klinefelter syndrome is the most common chromosomal abnormality, with a 47, XXY karyotype and typical clinical findings of infertility, hypogonadism, reduced body hair, gynecomastia, tall stature, and incresed gonadotropins and decreased testosterone levels. In addition to this classic description, several other diseases have been discribed in Klinefelter syndrome such as unilateral renal aplasia, autoimmune disease, diabetes mellitus, sexual precoxity, renal cell carcinoma, intravesical ureterocele, and osteoporosis. The incidence is 1 in 400-1,000 of the population and urological abnormalities are not common. However a case of Klinefelter syndrome associated with multicystic dysplastic kidney has not been not reported up to date. Therefore, we describe a 1-day-year old baby boy who presented with Klinefelter syndrome with unilateral multicystic kidney dysplastic disease, plus with a brief review of the literature.

• Molecular & Cellular Toxicology
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• v.1 no.2
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• pp.73-77
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• 2005

Nickel is the one of potent environmental, the occupational pollutants and the classified human carcinogens. It is a serious hazard to human health, when the metal exposure. To prevent human diseases from the heavy metals, it is seemingly important that understanding of how nickel exerts their toxicity and carcinogenic effect at a molecular and a genomic level. The process of nickel absorption has been demonstrated as phagocytosis, iron channel and diffusion. Uptaked nickel has been suggested to induce carcinogenesis via two pathways, a direct DNA damaging pathway and an indirect DNA damaging pathway. The former was originated from the ability of metal to generate Reactive Oxygen Species (ROS) and the reactive intermediates to interact with DNA directly. Ni-generated ROS or Nickel itself, interacts with DNAs and histones to cause DNA damage and chromosomal abnormality. The latter was originated from an indirect DNA damage via inhibition of DNA repair, or condensation and methylation of DNA. Cells have ability to protect from the genotoxic stresses by changing gene expression. Microarray analysis of the cells treated with nickel or nickel compounds, show the specific altered gene expression profile. For example, HIF-I (Hypoxia-Inducible Factor I) and p53 were well known as transcription factors, which are upregulated in response to stress and activated by both soluble and insoluble nickel compounds. The induction of these important transcription factors exert potent selective pressure and leading to cell transformation. Genes of metallothionein and family of heat shock proteins which have been known to play role in protection and damage control, were also induced by nickel treatment. These gene expressions may give us a clue to understand of the carcinogenesis mechanism of nickel. Further discussions on molecular and genomic, are need in order to understand the specific mechanism of nickel toxicity and carcinogenicity.