• Clinical and Experimental Reproductive Medicine
• /
• 제44권1호
• /
• pp.40-46
• /
• 2017

Objective: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. Methods: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening. Findings in NLRP7 were recorded and embryo culture and biopsy data were tabulated as a function of parental origin for any identified ploidy error. Results: The patient was found to have a pathogenic variant in NLRP7 (c.2810+2T>G) in a homozygous state. Fifteen oocytes were retrieved and 10 embryos were available after fertilization via intracytoplasmic sperm injection. Developmental arrest was noted for all 10 embryos after 144 hours in culture, thus no transfer was possible. These non-viable embryos were evaluated by karyomapping and all were diploid biparental; two were euploid and eight had various aneuploidies all of maternal origin. Conclusion: This is the first report of early human embryo development from a patient with any NLRP7 mutation. The pathogenic variant identified here resulted in global developmental arrest at or before blastocyst stage. Standard IVF should therefore be discouraged for such patients, who instead need to consider oocyte (or embryo) donation with IVF as preferred clinical methods to treat infertility.

• Asian Pacific Journal of Cancer Prevention
• /
• 제17권3호
• /
• pp.1313-1323
• /
• 2016

To study the full health effects of parental radiation exposure on the children of the atomic bomb survivors, the Radiation Effects Research Foundation developed a cohort of 76,814 children born to atomic bomb survivors (F1 generation) to assess cancer incidence and mortality from common adult diseases. In analyzing radiation-associated health information, it is important to be able to adjust for sociodemographic and lifestyle variations that may affect health. In order to gain this and other background information on the F1 cohort and to determine willingness to participate in a related clinical study, the F1 Mail Survey Questionnaire was designed with questions corresponding to relevant health, sociodemographic, and lifestyle indicators. Between the years 2000 and 2006, the survey was sent to a subset of the F1 Mortality Cohort. A total of 16,183 surveys were completed and returned: 10,980 surveys from Hiroshima residents and 5,203 from Nagasaki residents. The response rate was 65.6%, varying somewhat across parental exposure category, city, gender, and year of birth. Differences in health and lifestyle were noted in several variables on comparison across city and gender. No major differences in health, lifestyle, sociodemographics, or disease were seen across parental exposure categories, though statistically significant tests for heterogeneity and linear trend revealed some possible changes with dose. The data described herein provide a foundation for studies in the future.

• Korean Journal of Cleft Lip And Palate
• /
• 제16권1호
• /
• pp.9-18
• /
• 2013

Distraction osteogenesis is useful treatment which the gradual separation of cut bone edges results in the generation of new bone. It is effective treatment for correcting maxillofacial deformities. Patients with cleft lip and palate usually have maxillary hypoplasia due to scarring of lip and palate. To correct these deformities, we chose to use a 2-jaw orthognathic surgery or distraction osteogenesis. But despite improvements in surgical techniques for maxillofacial deformities, postoperative stability still leaves the question of when relapse may occur. This case report describes the Relapse after treatment of maxillary hypoplasia with cleft lip and palate by Rigid External distraction system over a 2-year treatment and follow-up period. In addition, we reviewed related articles about the influence of the occlusal stability on postoperative stability in patients with cleft lip and palate correction with Distraction osteogenesis.

• YAKHAK HOEJI
• /
• 제54권6호
• /
• pp.529-534
• /
• 2010

Alzheimer's disease (AD) is characterized pathologically by the presence of intracellular neurofibrillary tangles and deposition of ${\beta}$-amyloid ($A{\beta}$) peptides, which are generated by processing of amyloid precursor protein (APP). It is urgent to develop effective therapies for the treatment of AD, since our society rapidly accelerate aging. $A{\beta}$ peptides have been believed to be neurotoxic and now are also considered to have effects on the mechanism of memory formation. Recently, we investigated that a quinoline compound from natural product reduced the secretion of $A{\beta}$ from the neuroblastoma N2a cells (NL/N cell line) overexpressing APPswe. In this study, 3-phenyl-1-isoquinolinamine, a synthetic isoquinoline compound was analyzed to determine its effects on the metabolism of APP. It inhibited the secretion of $A{\beta}$ peptides from the N2a NL/N cell line. Beta-site APP cleaving enzyme (BACE) fluorescence resonance energy transfer (FRET) assay revealed that it inhibited BACE activity in a dose dependent manner. Immunoblotting study showed that it inhibited APP stabilization and expression and it slightly increased the stablization and the expression of ${\gamma}$-secreatase component from the N2a NL/N cell line. We suggest that 3-phenyl-1-isoquinolinamine inhibits APP metabolism and $A{\beta}$ generation by the means of BACE inhibitory mechanism. This is the first report that 3-phenyl-1-isoquinolinamine inhibits the secretion of $A{\beta}$ peptides from neuroblastoma cells.

• The Plant Pathology Journal
• /
• 제19권3호
• /
• pp.162-165
• /
• 2003

Transformation of Fuji apple (Malus domestica 'Fuji') was performed using Agrobacterium tumefaciens harboring a coat protein (CP) gene of Cucumber mosaic virus (CMV). A plasmid DNA containing the virus CP and NPT II genes was introduced into the loaves of apple by th e Agrobacterium - mediated transformation procedure. Regenerated transformants of the apple were obtained by kanamycin resistance conferred by the introduced NPT II gene. PCR analysis showed that 3 out of 20 putatively selected R0 plant lines contain the CMV-CP gene. Nine putative transgenic lines out of 20 lines were investigated with the PCR analysis; 5 regenerants produced a 450 bp DNA band and 3 regenerants showed a 671 bp DNA band for the NPT II and CMV-CP genes, respectively. Southern hybyidization results demonstrate the successful integration of the CMV-CP gene into the genome of the apple. This is the first report on the generation of useful vius resistance source of transgenic apple for molecular breeding program.

• The Bulletin of The Korean Astronomical Society
• /
• 제35권1호
• /
• pp.61.2-61.2
• /
• 2010

GMTNIRS (the GMT Near Infrared Spectrograph) is one of the first generation instrument candidates for GMT (Giant Magellan Telescope). Conceptual design studies for nine instruments were proposed last year, and the GMT organization selected 6 instruments including GMTNIRS for the next phase. GMTNIRS will be developed by an international collaboration between KASI and UT(University of Texas). KASI and UT have been also developing IGRINS (the Immersion Grating Infrared Spectrometer) which is a fore-runner instrument of GMTNIRS since 2009. In this talk, we will present the instrument details and development plan, and discuss the science case for GMTNIRS.

• Journal of the Korean housing association
• /
• 제24권5호
• /
• pp.9-16
• /
• 2013

The purpose of this study is to analyze local-based social welfare facilities to respond to secular change of the UR rental housing estates in Japan. The selected case studies for the analysis are Hibarigaoka, Hamakousien, Turumai UR rental housing estates constructed around 1960's. The analysis was done through UR website, MLIT (Ministry of Land, Infrastructure, Transport and Tourism) and MHLW (Ministry of Health, Labour and Welfare) policy report, and related literature. These case studies are connected with housing policy as well as welfare policy and performed to Stable Living Creation Project by Business Entry System for Stable Living. The types of local-based social welfare facilities are classified by welfare corporation and medical corporation. The results are as follows: 1) The implementation of cooperative and participative system not only the private sector (welfare and medical Corporation, etc.) but also the public (MLIT, MHLW, UR Renaissance Agency, Local government, etc.). 2) Repurposed of land through rent and transfer of land for local-based social welfare facilities in the process of housing stock renewal utilization. 3) The pursue of regional revitalization through attached to multi-generation facility or local community space for elderly in local-based social welfare facilities.

• Asian Pacific Journal of Cancer Prevention
• /
• 제17권4호
• /
• pp.2125-2129
• /
• 2016

Background: Stomach cancer is an aggressive malignancy that is difficult to detect at an early stage and therefore is characterized by poor survival rates. Over the last two decades, there has been no report of gastric cancer survival in Khon Kaen province, Thailand. The aim of this retrospective cohort study was to provide up-to-date information about the survival of gastric cancer patients in this province. Materials and Methods: Data from Khon Kaen population-based cancer registry, Faculty of Medicine, Khon Kaen University were newly obtained on 650 patients who were diagnosed with stomach cancer during the period 1 January, 2000 to 31 December, 2012. These were then followed up until death or the end of the study (31 December 2014). We calculated the observed survival with the actuarial life table method, and relative survival, defined as the ratio of observed survival in the group of the stomach cancer patients to the expected survival in the entire Thai population from the estimated generation life tables for Thailand of five-year birth cohorts from 1900 - 2000. Results: The 5 year observed and 5 year relative survival rates were 17.2 % (95% CI: 13.54-21.14) and 18.2 % (95% CI: 14.3-22.4), respectively. The highest 5 year relative survival rates were demonstrated among patients aged 45-65, with stage I or II lesions, with adenocarcinomas, with a body of stomach location, well differentiated and receiving surgery and/or chemotherapy. Conclusions: The observed and relative survival rates were close to each other. Our findings provide basic information beneficial to development of an effective treatment system and appropriately improved population-based cancer registration.

• Asian Pacific Journal of Cancer Prevention
• /
• 제13권10호
• /
• pp.5101-5104
• /
• 2012

Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.

• Asian-Australasian Journal of Animal Sciences
• /
• 제20권3호
• /
• pp.432-439
• /
• 2007

Thiazolidinediones (TZDs) act as potent activators of the adipose differentiation program in established preadipose cell lines. TZD's have also been investigated in diabetic patients and reported to act as PPAR-${\gamma}$ ligands. In this report, the effects of TZDs on the differentiation pathway of myoblasts have been investigated. C2C12 mouse myoblasts were grown in Dulbecco's Modified Eagles medium for 4-5 days until they reached almost 100% confluency. Post-confluent cells (day 0) were further exposed to adipogenic induction medium along with TZDs for 48 hours. Thereafter, cells were exposed only to TZDs every 48 h until day 10. The control was provided with differentiation medium without any treatment. Alterations in the cells during the differentiation programme were analyzed on the basis of fusion index, oil-red-o staining, adipocyte index, adipocyte stain uptake measurement, immuno-histochemistry and western blotting. Exposure of C2C12 mouse myoblasts to TZDs prevented the expression of myosin heavy chain with parallel increase in the expression of C/EBP-${\alpha}$ and PPAR-${\gamma}$ and acquisition of adipocyte morphology, thus abolishing the formation of multinucleated myotubes. TZDs exert their adipogenic effects only in non-terminally differentiated myoblasts; myotubes were insensitive to the compound. Continuous exposure (at least 4-5 doses) to inducers after the growth arrest was essential to provide a sustained environment to the cells converting to fully matured adipoctyes. The results indicate that TZDs specifically converted the differentiation pathway of myoblasts into that of adipoblasts.