• Neonatal Medicine
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• v.16 no.1
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• pp.76-80
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• 2009

A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.n Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1 -->qter. Because Sp21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.8
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• pp.3825-3827
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• 2012

FISH is one of the most sensitive molecular methods to detect genetic abnormalities with DNA probes. When cytogenetic studies are normal or insufficient, FISH may detect cryptic rearrangements, rare or slowly proliferative abnormal populations in non-mitotic cells. We cytogenetically evaluated 70 childhood ALL - 67.1% were found to have an abnormal karyotype. The 23 patients (32.9%) with a normal karyotype were analyzed by FISH applying two probes; TEL/AML1 and MYB which detect cryptic rearrangements of t(12;21)(p13;q22) and deletion of (6q) respectively, associated with a good prognosis. Out of 23 patients, one was positive for t(12;21)(p13;q22) (4.3%). None of our patients were positive for MYB del(6q). Two patients showed an extra signal for MYB on chromosomes other than 6 (8.6 %) indicating amplification or duplication. Findings were compared with the available literature. Our study clearly indicated the integrated FISH screening method to increase the abnormality detection rate in a narrow range. FISH is less useful for diagnostic study of patients with suspected del(6q) but it helps in detecting known cryptic rearrangements as well as identification of new abnormalities(translocation , duplication and amplification) at the gene level.

• Journal of Mechanical Science and Technology
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• v.15 no.8
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• pp.1181-1187
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• 2001

The radiation driven response function (R$\_$q/) for AP and HMX propellant was obtained and compared with experimental results by using a simple $\alpha$$\beta$γ flame model rather than with detailed chemistry. For an AP propellant, the profile of heat release was assumed by the experimental data. The calculated R$\_$q/ shows a frequency shift of the peak amplitude to the higher frequency and a decrease in the maximum amplitude as radiation increases. In addition, it was found the increase in the total flux could enhance the mean burning rate γ$\_$b/ while the phase differences between the radiation and resulting conduction could consequently reduce the fluctuating amplitude Δγ$\_$b/. Fortunately, this is the qualitative duplication of the behavior recently observed in the experiments of RDX propellants. For HMX, the response function R$\_$q/ has been calculated and showed a quite good agreement with the experimental data. Even though the fairly good agreement of R$\_$q/ with experimental ones, the unsteady behavior of HMX was not reproduced as the radiation input increased. This is due to lack of the material properties of HMX or the physical understanding of HMX burning at high pressure.

• Journal of Korean Academy of Nursing
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• v.34 no.8
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• pp.1434-1442
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• 2004

Purpose. Professional nursing ethics is a living, dynamic set of standards for nurses' professional moral behavior. Furthermore, in daily clinical nursing training, nursing students are constantly confronted with decision-making that is moral in nature. The aim of this study was to identify the perceived ethical attitudes in the clinical training process of senior nursing students using Q-methodology to offer basic strategies for nursing ethics education and thereby improve patients' care. Methods. Q-methodology provides a scientific method for identifying perception structures that exist within certain individuals or groups. Thirty-seven participants in a university rated 38 selected Q-statements on a scale of 1-9. The collected data were analyzed using pc-QUNAL software. Results. Principal component analysis identified 3 types of ethical attitudes in nursing students in Korea. The categories were labeled Sacred-life, Science-realistic and Humane-life. Sacred-life individuals think that a life belongs to an absolute power (God), not a man, and a human life is a high and noble thing. Science-realistic individuals disagreed that allowing an induced abortion or embryo (human) duplication is unethical behavior that provokes a trend, which takes the value of a life lightly; most of them took a utilitarian position with respect to ethical decisions. Humane-life individuals exhibit a tendency toward human-centered thought with respect to ethical attitudes. Conclusion. This study will be of interest to educators of students of nursing and hospital nursing administrators. Also, the findings may provide the basis for the development of more appropriate strategies to improve nursing ethics education programs.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.119-124
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• 2011

Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

• BMB Reports
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• v.43 no.10
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• pp.693-697
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• 2010

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed with colorectal cancer and had subsequently undergone surgery. Five Lynch syndrome patients carried germline mutations in MLH1 or MSH2. Two of these were identified as known mutations in MLH1: deletion of exon 10 and a point mutation (V384D). The remaining three patients exhibited novel mutations: a duplication (937_942dupGAAGTT) in MLH1; deletion of exons 8, 9, and 10; and a point mutation in MLH1 (F396I) combined with multiple missense mutations in MSH2 (D295G, K808E, Q855P, and I884T). The findings underline the importance of efficient pre-screening of conspicuous cases.