• Journal of Genetic Medicine
• /
• 제17권2호
• /
• pp.102-107
• /
• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• International Journal of Computer Science & Network Security
• /
• 제21권1호
• /
• pp.119-124
• /
• 2021

Elastic Optical Networks (EONs) allow to solve the high demand for bandwidth due to the increase in the number of internet users and the explosion of multicast applications. To support multicast applications, network operator computes a tree-shaped path, which is a set of optical channels. Generally, the demand for bandwidth on an optical channel is enormous so that, if there is a single fiber failure, it could cause a serious interruption in data transmission and a huge loss of data. To avoid serious interruption in data transmission, the tree-shaped path of a multicast connection may be protected. Several works have been proposed methods to do this. But these works may cause the duplication of some resources after recovery due to a link failure. Therefore, this duplication can lead to inefficient use of network resources. Our work consists to propose a method of protection that eliminates the link that causes duplication so that, the final backup path structure after link failure is a tree. Evaluations and analyses have shown that our method uses less backup resources than methods for protection of a multicast connection.

• Journal of Ginseng Research
• /
• 제38권2호
• /
• pp.130-135
• /
• 2014

Background: Panax ginseng, the most famous medicinal herb, has a highly duplicated genome structure. However, the genome duplication of P. ginseng has not been characterized at the sequence level. Multiple band patterns have been consistently observed during the development of DNA markers using unique sequences in P. ginseng. Methods: We compared the sequences of multiple bands derived from unique expressed sequence tagsimple sequence repeat (EST-SSR) markers to investigate the sequence level genome duplication. Results: Reamplification and sequencing of the individual bands revealed that, for each marker, two bands around the expected size were genuine amplicons derived from two paralogous loci. In each case, one of the two bands was polymorphic, showing different allelic forms among nine ginseng cultivars, whereas the other band was usually monomorphic. Sequences derived from the two loci showed a high similarity, including the same primer-binding site, but each locus could be distinguished based on SSR number variations and additional single nucleotide polymorphisms (SNPs) or InDels. A locus-specific marker designed from the SNP site between the paralogous loci produced a single band that also showed clear polymorphism among ginseng cultivars. Conclusion: Our data imply that the recent genome duplication has resulted in two highly similar paralogous regions in the ginseng genome. The two paralogous sequences could be differentiated by large SSR number variations and one or two additional SNPs or InDels in every 100 bp of genic region, which can serve as a reliable identifier for each locus.

• 대한기관식도과학회:학술대회논문집
• /
• 대한기관식도과학회 2007년도 제47차 학술대회 초록집
• /
• pp.53-53
• /
• 2007

• Journal of Chest Surgery
• /
• 제47권4호
• /
• pp.423-426
• /
• 2014

A 67-year-old male patient came to the hospital due to lung cancer and mediastinal cystic mass which was suspected to be esophageal duplication cyst. Video-assisted thoracoscopic surgery (VATS) was performed and intra-operative finding suggested it as a cystic mass along the thoracic duct. Thoracic duct was ligated and the cyst was completely resected. A 48-year-old female patient visited the hospital for dysphagia. Mediastinal cystic mass was suspected to be an esophageal duplication cyst. Intraoperative finding suggest a thoracic duct lymphangioma. After thoracic duct ligation, the mass was completely resected with VATS. Postoperative chylothorax did not develop in both cases.

• Biomolecules & Therapeutics
• /
• 제25권1호
• /
• pp.57-68
• /
• 2017

Seven transmembrane receptors (7TMRs), also known as G protein-coupled receptors, are popular targets of drug development, particularly 7TMR systems that are activated by peptide ligands. Although many pharmaceutical drugs have been discovered via conventional bulk analysis techniques the increasing availability of structural and evolutionary data are facilitating change to rational, targeted drug design. This article discusses the appeal of neuropeptide-7TMR systems as drug targets and provides an overview of concepts in the evolution of vertebrate genomes and gene families. Subsequently, methods that use evolutionary concepts and comparative analysis techniques to aid in gene discovery, gene function identification, and novel drug design are provided along with case study examples.

• Advances in pediatric surgery
• /
• 제15권1호
• /
• pp.58-63
• /
• 2009

환아는 4개월부터 직장 탈출증과 심한 변비를 보였으며, 9개월에 질로부터 대변이 배출되는 증상을 나타냈으나 검사상 우측 이상 형성 콩팥 및 이소성 요관 이외 특이 소견이 없어 경과 관찰을 시행하였다. 16개월에 전신 마취하에 이학적 검사를 시행하여 누공을 확인하였고 이를 통한 대장 조영술에서 직장 중복증을 진단하여 수술을 시행하였다. 수술 시야에서 직장부터 횡행 결장에 이르는 관형의 뒤창자 중복을 확인하고, 직장-질 누공을 분리하고 결장 및 직장에는 중격절개술을 시행하였으며, 동반된 기형인 이소성 요관과 무기능 우측 신장은 절제하였다. 환아는 수술 후 3년간 잘 지내고 있다. 직장-질 누공을 동반한 관형의 뒤창자 중복은 매우 드문 선천성 기형으로 저자들의 경험을 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제55권3호
• /
• pp.107-110
• /
• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Fisheries and Aquatic Sciences
• /
• 제11권3호
• /
• pp.177-181
• /
• 2008

Glyceraldehyde 3-phosphate dehydrogenase(GAPDH) is a key enzyme for carbohydrate metabolism in most living organisms. Recent reports and our own searches of teleost species in publicly available genomic databases have identified at least two distinct GAPDH genes in a given species. The two GAPDH genes are located on the same chromosome in teleosts, whereas they are located on the different chromosomes in mammals. Thus, we reconstructed a phylogenetic tree to better understand the evolutionary history of the GAPDH genes in the vertebrate lineage. Our phylogenetic analysis revealed unambiguously that the two GAPDH genes of teleosts are phylogenetically closely affiliated to one of the cytosolic GAPDH and spermatogenic GAPDH-S of mammals. This indicates that the two paralogous GAPDH genes shared a common ancestor and subsequently underwent a gene duplication event during early vertebrate evolution. However, GAPDH-S of teleosts showed significant differences in the polypeptide residues and tissue distribution of its mRNA transcripts from that of mammals, implying they have undergone a different history of functionalization.

• 약학회지
• /
• 제55권3호
• /
• pp.185-194
• /
• 2011

Therapeutic duplication (TD) is frequently reported inappropriate drug use in healthcare settings in Korea. This study was aimed to develop TD criteria for psycho-nervous system drugs (KFDA classification 117 and 119). ATC classification was used to determine therapeutic and/or chemical similarities among the 93 ingredients reviewed. Clinical practice guidelines, textbooks and product labels were referenced for principles and evidences of possible drug combination usage. 16 groups that listed ingredients to be considered as TD were established and the criteria would be helpful to prevent TDs.