• Korean Journal of Clinical Laboratory Science
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• v.39 no.3
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• pp.151-155
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• 2007

Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.2
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• pp.319-323
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• 2008

Edward's syndrome is a genetic disorder of 18th chromosomal trisomy. Main clinical features of this syndrome include systemic conditions, such as mental retardation, growth retardation, dyspnea, congenital heart disease, and orthopedic disorders, such as flexion deformity and rocker-bottom feet. The characteristics of fetal abnormality are hydramnios, small placenta, common umbilical artery. Infants with Edward's syndrome have very low survival rate. Almost half of them die during fetal stage. Fifty percent of them survive 2 months, and 5 to 10 percent of them survive about 1 year. A 3-year and 7 month old girl visited our dental hospital for the treatment of dental caries. Considering her systemic disease, low body weight, medical history of cardiac surgery, and difficulty in airway management, dental procedure was performed under general anesthesia. We report this case with review of literatures.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.3
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• pp.1519-1529
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• 2016

Background: Matrix metalloproteinase -2 (gelatinase-A, Mr 72,000 type IV collagenase, MMP-2) and -9 (gelatinase-B, Mr 92,000 type IV collagenase, MMP-9) are key molecules that play roles in tumor growth, invasion, tissue remodeling, metastasis and stem-cell regulation by digesting extracellular matrix barriers. MMP-2 and -9 are well known to impact on solid cancer susceptibility, whereas, in hematological malignancies, a paucity of data is available to resolve the function of these regulatory molecules in bone marrow mononuclear cells (BM-MNCs) and stromal cells of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Objectives: The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. Results: The study covered cases of confirmed MDS (n=50), AML (n=32) and healthy controls (n=110). MMP-9 mRNA expression revealed 2 fold increased expression in MDS-RAEB II and 2.5 fold in AML M-4 (60-70% blasts). Secretion of gelatinase-B also revealed the MMP-9 mRNA expression and ELISA data also supported these data. We noted that those patients having more blast crises presented with more secretion of MMP-9 and its mRNA expression. In contrast MMP-9 (-1562 C/T) showed significant polymorphic associations in MDS (p<0.02) and AML (p<0.02). MMP-9 mRNA expression of C/T and T/T genotypes were 1.5 and 2.5 fold increased in MDS and AML respectively. In AML, MMP-2 C/T and T/T genotypes showed 2.0 fold mRNA expression. Only MMP-9 (-1306 C/T) showed significant 4 fold (p<0.001) increased risk with chemical and x-ray exposed MDS, while tobacco and cigarette smokers have 3 fold (p<0.04) risk in AML. Conclusions: In view of our results, MMP-9 revealed synergistic secretion and expression in blast crises of MDS and AML with 'gene' polymorphic effects and is significantly associated with increased risk with tobacco, cigarette and environmental exposure. Release and secretion of these enzymes may influence hematopoietic cell behavior and may be important in the clinical point of view. It may offer valuable tools for diagnosis and prognosis, as well as possible targets for the treatments.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.64-71
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• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• The Korean Journal of Physiology and Pharmacology
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• v.6 no.1
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• pp.1-7
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• 2002

Congenital Long QT syndrome (LQTs) is a relatively rare pathologic disorder but results frequently in sudden cardiac death. Of the six LQTs that have been clinically described, five have been worked out for their genetic and biophysical profile. Most are generated by mutations which cause a loss of function in two delayed $K^+$ currents, $i_{Ks}\;and\;i_{Kr}.$ One syndrome is generated by mutations in the $Na^+$ channel which causes essentially a gain of function in the channel. Clinically the syndromes are characterized by slowed repolarization of the cardiac ventricular action potential and the occurrence of typical arrhythmias with undulating peaks in the electrocardiogram, called Torsade de Pointes. Arrhythmias are initiated by early or delayed afterdepolarizations and continue as reentry. Triggers for cardiac events are exercise (swimming; LQT1), emotion (arousal; LQT2) and rest/sleep (LQT3). ${\beta}-blockers$ have a high efficacy in the treatment of LQT1 and LQT2. In LQT3 their use is questionable. The study of congenital LQTsyndromes is a remarkable example of how basic and clinical science converge and take profit of each other's contribution.

• Journal of Chest Surgery
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• v.19 no.4
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• pp.644-662
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• 1986

Seventy cases of open heart surgery were performed in the department of Thoracic and Cardiovascular Surgery, Pusan Paik Hospital, Inje College, from Oct. 1985 to Oct. 1986. And the results were summarized as follows. 1. Among the 70 cases, there were 48 cases of congenital heart anomalies and 22 cases of acquired rheumatic valvular heart diseases. Age range of the congenital patients was 7 months to 31 years with the mean age of 10 years, and the acquired patients was 18 to 62 years with the mean age of 40 years. 2. The heart-lung machine used for cardiopulmonary bypass was Sarns 7000, 5-head roller pump, and the number and type of oxygenators were 5 of membrane type and 65 of bubble type. For all cases GIK [glucose-insulin-potassium] solution was used as cardioplegic solution for myocardial protection during operation. 3. Among the 48 congenital anomalies, there were 12 cases of ASD group, 29 of VSD group, 3 of ECD, 3 of TOF and one of PDA + MR, and to all of which the appropriate radical operations were applied. 4. Among the 22 acquired valvular diseases, there were 11 cases of mitral valve diseases [MS; 4, MSr; 3, MRs; 4], 3 cases of aortic valve diseases [AR:1, ARs;1, ASr;1], 4 cases of double valve diseases [MRs+TR; 3, MRs+ARs; 1] and 4 cases of triple valve diseases [MSr+ASr+TR; 3, MSr+Ar+TR; 1]. To all the diseased mitral and aortic valves, artificial valve replacement was applied except one [As], in which valve plication was applied. And to all the diseased tricuspid valve, DeVega annuloplasty was applied. 5. The number of replaced artificial valves were 29 in 25 patients [congenital; 3, acquire; 22]. In MVR, 6 of mechanical valves [St. Jude Medical valve; 6] and 15 of tissue valves [Carpentier-Edward valve; 11, lonescu-Shiley valve; 4] were used. In AVR, 6 of mechanical valves [St. Jude Medical valve; 6] and 2 of tissue valves [Carpentier-Edward valve; 2] were used. 6. Postoperative complications were occurred in 12 cases. Among them 11 cases were recovered with intensive cares, but one patient [VSD + Fistula of Valsalva sinus] was expired with low cardiac out put syndrome.

• Journal of Chest Surgery
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• v.24 no.4
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• pp.404-420
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• 1991

Surgical treatment of congenital and acquired heart disease preceded the development of accurate techniques for diagnosis, heart lung machine and cardiopulmonary bypass, intraoperative myocardial protection, operative techniques and cardiac anesthesia. For 5 years from Sep. 1985 to Sep. 1990, six hundred cases of open heart surgeries [OHS] were performed in the department of Thoracic & Cardiovascular Surgery, Pusan Paik Hospital, College of Medicine, Inje University. The results were summarized as follows. 1. The annual number of OHS[cases per year] was above 100 since 1987, and the increasing rate of cases was 23.5% per year since 1986. 2. Among the total 600 cases, there were 470 cases of congenital heart diseases and 130 cases of acquired. Age range of the congenital patients was 8 months to 44 years with the mean age of 10 years, and acquired patients was 16 to 56 years with the mean age of 36 years. 3. Among the 470 congenital anomalies, there were 429 cases of acyanotic and 41 cyanotic patients. Totally, VSD was 286 cases[60.6%], ASD 103 cases[21.9%], TOF 35 cases [7.4%], PS 20 cases [4.1%], ECD 12 cases [2.0%], Ebstein`s anomaly 3 cases [0.6%], Valsalva sinus rupture 3 cases [0.6%] and others. The appropriate one stage radical operations were applied to the all congenital cases with the result of 2.6% immediate postoperative hospital mortality rate. 4. Among the 130 acquired cases, there were 122 cases of valvular heart diseases, 6 of heart tumors [5 myxoma, one malignant histiocytoma], one of LA thrombus and one of annuloaortic ectasia. Cardiac tumors and LA thrombus were removed through the atrial septal approach. Bentall procedure was adopted to the annuloaortic ectasia case. AVR, MVR and TVA [DeVega procedure] were applied to 120 valve diseases, and there were also one of OMC and one of MVA[Jerome-Kay procedure]. 5. Among the 120 valve replacement cases, there were 87 of single valve replacement cases [AVR: 8, MVR: 79], 11 of double valve replacement [AVR+MVR: 11], 12 of MVR+TVR and 10 of MVR+AVR+TVA. The total number of implanted prosthetic valves were 141. In MVR, 45 of St. Jude Medical valves, 63 of Carpentier-Edward valves and 4 of Ionescu-Shiley valves were used. In AVR, 18 of St. Jude Medical valves and 11 of Carpentier-Edward valves were used. in MVR, 29mm and 31mm sized valves were used mostly and In AVR, 23mm sized valves were used mostly. 6. Postoperatively many kinds of complications were occurred. Among them, wound problems [30 cases], low output syndrome [29 cases], arrhythmia [20 cases], pleural effusion and pneumothorax [13 cases] were occurred frequently. The postoperative immediate hospital mortality was 3.0% in total [congenital 2.6%, acquired 4.6%].

• Journal of Biomedical Engineering Research
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• v.18 no.3
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• pp.233-241
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• 1997

The research on chromosomes is very significant in cytogenetics since genes of the chromosomes control revelation of the inheritance plasma. The human chromosome analysis is widely used to study leukemia, malignancy, radiation hazard, and mutagen dosimetry as well as various congenital anomalies such as Down's, Klinefelter's, Edward's, and Patau's syndrome. The framing and analysis of the chromosome karyogram, which requires specific cytogenetic knowledge is most important in this field. Many researches on automated chromosome karyotype analysis methods have been carried out, some of which produced commercial systems. However, there still remains much room to improve the accuracy of chromosome classification and to reduce the processing time in real clinic environments. In this paper, we proposed a hierarchical artificial neural network(HANN) to classify the chromosome karyotype. We extracted three or four chromosome morphological feature parameters such as centromeric index, relative length ratio, relative area ratio, and chromosome length by preprocessing from ten human chromosome images. The feature parameters of five human chromosome images were used to learn HANN and the rest of them were used to classify the chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other researchers using less feature parameters.

• Journal of English Language & Literature
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• v.54 no.4
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• pp.561-577
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• 2008

L.M. Montgomery's Anne of Green Gables is not only confidently labelled a Canadian classic but also placed as a national icon along with the moose, the beaver, and the Habs in Canada. Anne's 'Canadianness' is partly due to its location in the rural world of Prince Edward Island. The fictional Avonlea is described as the ideal space where Canadian spirit can interact with the personified surrounding landscapes through Celtic imagination. Additionally, the communal bond of Avonlea fully demonstrates Scottish Canadian identities. The Scottish national character of Avonlea is responsible for clannishness of the Cuthberts and the Lyndes. The disrespect to the French is also due to Scottish heritage in Avonlea. As an outsider Anne wants to be integrated into the community of Avonlea, and successfully adapts herself to the regional shared values. Meanwhile she partly challenges the strictness and rigidness of the born Canadian Avonlea residents. Despite its Canadian origin, Anne of Green Gables is accepted as part of the American canon of children's literature in the Unite States. The configuration of Anne as an American heroine is noticeable among American scholars: by relocating it to the US the female Bildungsroman in the nineteenth century America, a group of literary critics adapt Anne as an American girl for American readers. The heroine of Anne of Green Gables is linked to American novels such as Louisa May Alcott's Little Women, Kate Douglas Wiggin's Rebecca of Sunnybrook Farm and Gene Stratten Porter's A Girl of the Limberlost. Anne is even classified as another Caddie by American literary critics: Anne is placed at the center of Caddie Woodlawn Syndrome as another Wisconsin pioneer child. Canadian identity of Anne is intentionally excluded and Anne was reborn as an American girl in the U.S. In this context, Anne functions as a sign of nation and a site for cross-national identity formation.