• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.121-124
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• 2016

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

• 대한임상검사과학회지
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• 제43권3호
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• pp.89-97
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• 2011

The Human Papilloma Virus (HPV) infection has been strongly associated with pathogenesis of uterine cervix carcinoma. HPV type 16, a causative agent of uterine cervix carcinoma, encodes the E6 and E7 oncogenes, expression of which is pivotal for malignant transformation and maintenance of malignant phenotypes. To develop a gene therapy for HPV-related carcinoma, We investigated the effect of E6 short-interfering RNA (E6 siRNA) on the expression of this oncogene and on the growth of HPV 16-related uterine cervix carcinoma cells. SiHa cells, a uterine cervix carcinoma cell line, which contain a single copy of HPV 16 integrated in the chromosome and express the E6 and E7 oncogenes. Before 24 hr of transfection, cells were seeded and transfected with control plasmid or E6 siRNA-expressing plasmid. The mRNA was analysed by reverse transcriptase polymerase chain reaction (RT-PCR). The cell growth rate was investigated by MTT method. The E6 mRNA level in SiHa cells was decreased in HPV 16 E6 siRNA-expression vector transfected cells and a decrease in the growth of these cells was also observed. From these results. it is evident that E6 siRNA played a role in suppression of growth of SiHa cells and has a fair chance as a candidate for gene specific therapy for HPV related uterine cervix carcinoma.

• Industrial Engineering and Management Systems
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• 제3권2호
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• pp.123-128
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• 2004

A tree structure model has been proposed for representing the unequal-area facility layout. Each facility has a different rectangular shape specified by its area and aspect ratio. In this layout problem, based on the assumption that the shop floor has enough space for laying out the facilities, no constraint is considered for a shop floor. Objectives are minimizing total part movement between facilities and total rectangular layout area where all facilities and dead spaces are enclosed. Using the genetic code corresponding to two kinds of information, facility sequence and branching positions in the tree structure model, a genetic algorithm has been applied for finding non-dominated solutions in the two-objective layout problem. We use three kinds of crossover (PMX, OX, CX) for the former part of the chromosome and one-point crossover for the latter part. Two kinds of layout problems have been tested by the proposed method. The results demonstrate that the presented algorithm is able to find good solutions in enough short time.

• Clinical and Experimental Pediatrics
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• 제45권2호
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• pp.273-277
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• 2002

저자들은 짧은 사지를 가지고 태어난 생후 2일된 여자 신생아에서 뇌량의 부분 발육부전과 특징적인 임상소견을 보이면서 염색체 검사상 4번 염색체 장완 간질부결손으로 확진된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 한국자원식물학회지
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• 제1권1호
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• pp.80-87
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• 1988

Hybries which was made up by chromosome of L. longiflorum and L. x elegans, using root-tip individual which was obtained through ovary slice culture, and root-tip of these parents, with hoirugen staining, gimsa staining and Q-H staining inaccordance with the location and the existence of secondary construction which waslocating near short arm centromere of No, 1,2,6,9. In metaphase of meiosis ofhybrid which was made up by univalent from 2 individuals to 10 individuals wasobserved, and nuclear plate which was having abnormal type's synthesis amounted to91% of all cells whieh were observed. This result showed the fact that someobstacle arose annormal progress of the divission after that time. 63% of the cellshad micronucleus from 1 individlial to 4 individuals in tetrad phase of meiosisdivision. The peroxidase and $\alpha$ -estelase zymogram phenotypes of parents andhybrids were determined using agarlose IEF gel. Crosses were performed betweenparents bearing dissimilar allelomorphs in orther to discern the genetic control ofthe resolved enzymes. Genetic variation of hybrids were detected at all but 2 plant progenies.

• Journal of Dental Anesthesia and Pain Medicine
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• 제20권1호
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• pp.49-53
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• 2020

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a high caries index. However, treating such patients is not an easy task, because of the difficulty in communication. General anesthesia may be a useful option in adult patients with CdCS and intellectual disability. General anesthesia should be administered very carefully, owing to the presence of comorbid diseases, which may need airway management. Infants with CdCS need general anesthesia if they have a concomitant cardiac anomaly. Intubation is reportedly difficult for such patients was, owing to the structural and functional abnormalities in the larynx and vocal cords. The purpose of this study was to report a case of difficult intubation while inducing general anesthesia in a patient with CdCS during dental treatment, due to a narrow larynx and trachea.

• Journal of mucopolysaccharidosis and rare diseases
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• 제1권2호
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• pp.40-43
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• 2015

Prader-Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11-q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle. The life expectancy of persons with PWS has increased in recent years. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems are common physical complaints in older people with PWS. Behavioral problems are major concerns in adults with PWS into old age. And aging is also associated with significant social and economic changes. Age-related physical morbidity, physical appearance, behavioral and psychiatric problems, functional decline and economic problems can be combined in older PWS. The care for older people with PWS requires a life span approach that recognizes the presence, progression, and consequences of specific morbidity.

• Childhood Kidney Diseases
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• 제12권1호
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• pp.1-10
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• 2008

Nucleic scids transfer the genetic information for serving a central biological purpose. The nucleic acids are polymers of nucleotides and they are mainly ribonucleic acid(RNA) and deoxyribonucleic acid(DNA). The nucleotides are stoichiometrically composed of five-carbon sugars, nitrogeneous bases, and phosphoric acids. The chemistry of nucleic acids and characteristics of different genomes are decribed for further study. Most of DNA genomes tend to be circular including bacterial genomes and eukaryotic mitochondrial DNA. Eukaryotic chromosomes in cells, in contrast, are generally linear. The ends of linear chromosomes are called telomeres. The genomes of different species, such as mammals, plants, invertebrates can be compared with the chromosome ends. The telomeric complex allows cells to distinguish the random DNA breaks and natural chromosomal ends. The very ends of chromosomes cannot be replicated by any ordinary mechanisms. The shortening of telomeric DNA templates in semiconservative replication is occurred with each cell division. The short telomere length is critically related to aging, tumors and dieases.

• 한국독성학회:학술대회논문집
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• 한국독성학회 2006년도 추계학술대회
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• pp.95-101
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• 2006

Compare to the toxicity tests using experimental animals, the GLP application and compliance in toxicity studies using cell culture systems may be less straightforward elucidated in the two documents published by the OECD Working Croup on GLP 'The Application of the GLP Principles to Short Term Studies (1999)' and 'The Application of the Principles of GLP to in vitro Studies (2004)' The object of this presentation is to show how to interpret the GLP principles and to apply with actual performances in a well known toxicity test using cell culture, chromosome aberration study. The presentation will cover test substance, test system (cell line), study environment management, documentation, quality assurance, and study protocol and report.

• Journal of Dental Anesthesia and Pain Medicine
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• 제17권3호
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• pp.231-233
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• 2017

Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management. In patients with short stature, the tracheal tube size may differ from what may be predicted based on age. The appropriate size ( internal diameter ) of tracheal tubes for children has been investigated. Congenital heart disease is frequently associated with Wolf-Hirschhorn syndrome. Depending on the degree and type of heart disease, careful monitoring of hemodynamics is important.