• Journal of Genetic Medicine
• /
• 제16권1호
• /
• pp.15-18
• /
• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Journal of Genetic Medicine
• /
• 제7권1호
• /
• pp.37-44
• /
• 2010

목적: Kabuki 증후군은 정신 지체를 동반하는 선천성 다발성 기형 증후군이다. 우리나라에서는 현재까지 6례의 Kabuki 증후군 증례가 산발적으로 보고 된 바 있다. 본 연구에서는 저자들이 경험한 Kabuki 증후군 환자 6명의 임상 및 유전학적 특징을 조사하고, 이를 외국 문헌들과 비교 분석해 보고자 하였다. 대상 및 방법: 2003년부터 2009년까지 아주대학교 병원 유전질환 전문센터에서 Kabuki 증후군으로 진단되어 추적 중인 6명의 한국인 여아를 대상으로 하였으며, 의무기록을 후향적으로 검토하여 이들의 임상 및 검사 소견을 수집하고 분석하였다. 결 과: 6명의 환자 모두가 특징적인 얼굴 모습 및 발달 지연 소견을 보이고 있었고, 손끝의 태아 패드 또한 모든 환자에서 확인되었다. 이외에도 대부분의 환자가 생후 성장 지연(83.3 %) 및 근력 저하(83.3%) 소견을 보였다. 안과적인 이상 또한 흔하게 동반되었는데, 특히 사시(83.3%)가 가장 흔한 안과적 이상 소견이었다. 선천성 심장 기형은 50%의 환자에서 동반되었으며, 골격계통의 증상으로는 짧거나(83.3%) 굽은(50%) 5번째 손가락, 관절의 과신전(50%) 및 고관절 탈구(16.7%) 등으로 다양하였다. Kabuki 증후군의 가족력을 가진 환자는 없었으며, 핵형 분석 및 array CGH를 포함한 세포유전학적 분석에서 Kabuki 증후군의 원인으로 생각되는 이상 소견은 발견되지 않았다. 결 론: 한국인 Kabuki 증후군 환자들이 보이는 임상 양상은 매우 광범위하며 다양한 신체 기관을 침범하고 있다. 비록 Kabuki 증후군의 임상적특징들이 비교적잘 알려져 있기는 하지만, 아직질환의 원인으로 추정되는 유전적 이상은 확실히밝혀지지 않았다. 적절한 질환의 관리및 유전상담이 이루어지기 위해서는 Kabuki 증후군의 자연 경과 및 유전적 배경에 대한 추가적인 연구가 필요하다고 생각된다.

• Journal of Microbiology
• /
• 제40권1호
• /
• pp.43-50
• /
• 2002

A cluster of genes encoding the pyruvate dehydrogenase complex (PDC) of Streptomyces seoulensis, a Gram-positive bacterium, was cloned and sequenced. The genes of S. seoulensis consist of four open reading frames. The first gene, lpd, which encodes a lipoamide dehydrogenase, is followed by pdhB encoding a dihydrolipoamide acetyltransferase (E2p), pdhR, a regulatory gene, and pdhA encoding a pyruvate dehydrogenase component (Elp). Elp had an unusual homodimeric subunit, which has been known only in Gram-negative bacteria S. seoulensis E2p contains two lipoyl domains like those of humans and Streptomyces faecalis. The pdhR gene appears to be clustered with the structural genes of S. seoulensis PDC. The PdhR-overexpressed S. seoulensis howed growth retardation and the decrease of Elp, indicating that PdhR regulates the function of PDC by repressing the expression of Elp. A strain of Streptomyces licidans overexpressing S. seoulensis PdhR showed a significant decreasein the level of actinorhodin, implying a regulatory role for Streptomyces PDC in antibiotic biosynthesis.

• Journal of Chest Surgery
• /
• 제11권3호
• /
• pp.316-320
• /
• 1978

This report presents a case of patent ductus arteriosus complicated with total left lung atelectasis and mitral regurgitation. Her mother complained growth retardation and exertional dyspnea. The 3 year old girl had large patent ductus arteriosus [Qp/Qs=5.6] which resulted in moderate pulmonary hypertension, left atrial hypertrophy and enlargement, consequently the left main bronchus was compressed between the dilated left atrium and aorta. We would like conclude the cause of mitral regurgitation as the result of annular dilatation secondary to left atrial enlargement rather than congenital associated to patent ductus arteriosus. 3 weeks later from ligation of patent ductus arteriosus, the left atrial dimension was markedly reduced echocardiographically [from 3.9cm to 2.7cm], and the left lung progressively aerated by halves.

• 한국응용약물학회:학술대회논문집
• /
• 한국응용약물학회 1994년도 춘계학술대회 and 제3회 신약개발 연구발표회
• /
• pp.319-319
• /
• 1994

의약품등의 배아(태자) 독성물질에 의해서 유도될 수 있는 태자체중의 감소와 골화지연은 실험동물을 이용한 생식독성 시험에 있어서 자궁내 발육지연 (intrautering growth retardation)으로 평가된다. 태자체중은 측정이 매우 용이한 변수에 속하지만 골화지연의 평가에는 유해인자 (noxa) 의 작용시 기형이 유발되지 않는 골격부위가 가장 적합한데, 어느 골격부위가 발육지연 효과의 평가를 위하여 가장 적합한지를 알아내기 위해서는 태자체중과 골화의 상관성 조사가 필수적이다. 연구결과 골격형성은 골격부위에 따라 큰 차이를 보였는데, 크게는 거의 골화가 종료된 부위 (예: 흉골) 와 골화가 진행증인 부위 (예: 천미추) 로 구분되었고 주요 골격부위의 골화와 태자체중의 관계를 조사한 바, 골격부위에 따라서 상이한 상관관계를 나타내었다. 그런데 본 연구에서 나타난 바로는 ICR 마우스에 있어서 천미추의 골화짐 수가 태자제중과 가장 높은 상관성을 나타내었다. 또한 천미추의 변이계수는 타 골격부위에 비해서 그다지 높지 않았다. 따라서 ICR 마우스를 이용한 생식독성시험에 있어서 천미추의 골화 진행도는 의약품등에 의해 유도될 수 있는 발육지연 효과의 평가를 위한 가장 적합한 지표라고 판단된다.

• 대한한의학회지
• /
• 제27권4호
• /
• pp.125-134
• /
• 2006

During the prenatal period, the development of the individual is influenced by a host of environmental factors. Exposure to noise stress during pregnancy was determined to result in the retardation of growth, a reduction in neurogenesis, and an impairment of spatial learning ability in the rat pups. In the present study, we have attempted to characterize the effects of prenatal treatment with Cnidium officinale Makino on spatial memory and neurogenesis in the hippocampus of rat pups born from maternal rats exposed to noise stress during pregnancy. Prenatal treatment with Cnidium officinale Makino was shown to increase neurogenesis and enhanced spatial learning ability in rat pups born from maternal rats exposed to noise stress. In this study, we have determined that prenatal treatment with Cnidium officinale Makino can stimulate spatial development and neurogenesis in the brain of the fetuses exposed to prenatal stresses.

• 한국생물환경조절학회:학술대회논문집
• /
• 한국생물환경조절학회 2003년도 춘계 학술대회 논문집
• /
• pp.17-23
• /
• 2003

최근 채소작물의 모종은 주로 플러그 육묘방식으로 생산되고 있다. 플러그묘는 단위면적당 많은 개체 수를 육묘할 수 있고, 일련의 작업을 기계화할 수 있으며 운반이나 취급이 용이하는 등 여러 가지 잇점이 있으나 제한된 용적에 밀식되므로 묘가 연약하고 도장되기 쉬운 문제점이 있다(Bae, 1999; Choi, 2002). 이러한 도장 및 과번무 억제를 위해서 대부분의 육묘장에서는 화학적 생장억제제로를 처리하고 있는데 이는 정식한 이후에도 약효의 지속되기 때문에 초기생육을 지연시키거나 생식생장에 부정적인 영향을 미칠 수 있다(Gent, 1997). (중략)

• Journal of Chest Surgery
• /
• 제17권4호
• /
• pp.614-619
• /
• 1984

Atrioventricular canal is divided into incomplete, intermediate and complete types. In ostium primum ASD [incomplete type] mitral valve cleft is almost always present, but ostium primum ASD with tricuspid valve cleft is a rare congenital anomaly. The patient was a 7 year old female whose complains were palpitation, exertional dyspnea and growth retardation. The chest films showed moderate cardiomegaly [C-T ratio, 61%]. EKG, Echocardiography, cardiac catheterization and left ventriculography were performed. Open heart surgery was done under the impression of incomplete atrioventricular canal. At the time of operation, ostium primum ASD [2x2.5 cm in diameter], secundum type ASD [lxl.5 cm in diameter] and cleft in the septal leaflet of the tricuspid valve were noted. But mitral valve was normal without cleft and VSD was not noted. Each anomalous portion was repaired. The patient made an uneventful recovery and we report this case, review and discuss the literatures.

• Clinical and Experimental Pediatrics
• /
• 제53권6호
• /
• pp.718-721
• /
• 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the $CREB$ $binding$ $protein$ ($CREBBP$) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.

• 한국자동차공학회논문집
• /
• 제9권3호
• /
• pp.181-189
• /
• 2001

For the Tailor Welded Blank sheet used fur automobile body panel, the characteristics of fatigue crack propagation behavior were studied. The thickness of specimen was machined to be same (0.9+0.9mm) and different (0.9+2.0mm). As a base test, mechanical properties around welding zone were examined. The results indicated that there were no significant decreases in mechanical properties, but hardness around welding bead is 2.3 times greater than base material. The crack propagation rate was noticeably decreased around welding line and rapidly increased as it passed by welding line. Reviewing the shape of the crack propagation, crack width around welding line was wide around the welding zone due to retardation of crack growth, but it became narrow passing welding line due to decreased toughness. Elasto-Plastic analysis was performed by finite element analysis fur explaining the test results.