• Title/Summary/Keyword: 접합

Search Result 10,803, Processing Time 0.037 seconds

A Case of Adult-onset Type II Citrullinemia Confirmed by Mutation of SLC25A13 (SLC25A13 유전자 돌연변이로 확진된 성인형 제 2형 시트룰린혈증 1례)

  • Jeung, Min Sub;Yang, Aram;Kim, Jinsup;Park, Hyung-Doo;Lee, Heon Ju;Jin, Dong-Kyu;Cho, Sung Yoon
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.16 no.1
    • /
    • pp.34-41
    • /
    • 2016
  • Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

  • PDF

Comparison of Stress Response between Korean Native Chickens and Single Comb White Leghorns subjected to a High Stocking Density (닭의 품종 간 스트레스 반응 정도 비교 분석)

  • Sohn, Sea Hwan;Cho, Eun Jung;Park, Dhan Bee;Jang, In Surk;Moon, Yang Soo
    • Korean Journal of Poultry Science
    • /
    • v.41 no.2
    • /
    • pp.115-125
    • /
    • 2014
  • With Single Comb White Leghorn (WL) and Korean Native Chicken (KNC) breeds, we compared the stress response with chicken breeds that were subjected to a high stocking density. Stress response was analyzed by the quantity of telomeric DNA, the rate of DNA damage and the expression levels of heat shock proteins (HSPs) and hydroxyl-3-methyl-glutaryl coenzyme A reductase (HMGCR) genes on tissues and blood. The telomere length and telomere shortening rates were analyzed by quantitative fluorescence in situ hybridization on the nuclei of lymphocytes and tissues. The DNA damage rate of lymphocytes was quantified by the comet assay. The expression levels of HSP70, HSP90-${\alpha}$, HSP90-${\beta}$ and HMGCR genes were measured by quantitative real-time polymerase chain reaction in lymphocytes. There was no significant difference between KNC and WL in body weight, weight gain, telomere shortening rate and DNA damage rate. However, the growth rate significantly decreased in chickens raised under high stocking density conditions, as compared to the control group. The telomere-shortening rate, DNA damage and HSPs expression of the lymphocytes were significantly higher in the high stocking density group than the control. The stress condition and breeds had a significant effect on the expressions of HSP70, HSP90-${\alpha}$ and HSP90-${\beta}$ in lymphocytes, except HMGCR. The stress response of WL was higher than that of KNC, as analyzed to the expression of HSP70 and HSP90-${\alpha}$. Therefore, we concluded that the chickens which were exposed to a high stocking density had increased the individual physiological stress response regardless of breeds, and White Leghorns are more susceptible to stress condition than Korean Native Chickens.

Partial Anomalous Pulmonary Venous Connection to the Superior Vena Cava

  • Lee, Sub;Kim, Han-Woong;Kang, Hyoung-Seok;Bae, Chi-Hoon;Jheon, Sang-Hoon;Kwon, Oh-Choon;Ahn, Wook-Su
    • Journal of Chest Surgery
    • /
    • v.34 no.9
    • /
    • pp.672-679
    • /
    • 2001
  • Background: Surgical correction of partial anomalous pulmonary venous connection to the superior vena cava has been associated with postoperative venous obstruction and sinus node dysfunction. In this paper we describe our current approach and its short-term results. Material and Method: Between April 1999 and January 2000, 5 consecutive patients, ranging from 2 months to 66 years old, underwent corrective operation for partial anomalous pulmonary venous connection to the superior vena cava at Sejong General Hospital and Daegu Catholic University Medical Center. Surgical correction involved diversion of the pulmonary venous drainage to the left atrium using a right atrial flap(2 patients) or prosthetic patch(3 patients) with division of the superior vena cava superior to the restore site of the pulmonary veins and reimplantation on the right atrial appendage to restore systemic venous drainage. Result: All patients were discharged between postoperative day 9 and 15 without complications. One Russian boy returned to his country, therefore, he was lost to follow-up after discharge. Remaining 4 patients were asymptomatic and in normal regular sinus rhythm at a mean follow-up of 17.75$\pm$4.27 months. Follow-up echocardiographic study (range, 12 to 24 months) revealed no incidence of narrowing of the venous pathways or of residual shunt. Conclusion: Our current approach is relatively simple and reproducible in achieving unobstructive pulmonay venous and SVC pathways. By avoiding incision across the cavoatrial junction, surgical injury to the sinus node and its artery may be minimized. The presented surgical technique can be safely and effectively applied to the selected patients.

  • PDF

2DEG Transport Analysis in AlGaAs/GaAs Interface by MONTE-CARLO Method (MONTE-CARLO 방법에 의한 AlGaAs/GaAs 계면의 전자 전달특성 분석)

  • Nam, Seung-Hun;Jung, Hak-Ki;Kim, Bong-Ryul
    • Journal of the Korean Institute of Telematics and Electronics
    • /
    • v.26 no.2
    • /
    • pp.94-101
    • /
    • 1989
  • Transport properties of 2DEG at AlGaAs/GaAs interface such as average electron energy, flight distance, each valley occupancy ratio, average electron velocity for various fields are investigated by MONTE-CARLO method. As the electric field increases, more electrons transit drastically from (000) valley to (000) upper valley. This phenomenon shows the nonstationary effect such as velocity overshoot. The duration of the transient decreases from about 1.4 psec for electric field E = 7KV/cm to about 0.7 psec for 12KV/cm. The average electron velocity during transient transport in 2DEG is about 8 times the steady-state velocity for E = 12KV/cm at room temperature. In comparison with bulk GaAs the peak velocity in the 2DEG is higher than that in even pure bulk GaAs at electric field E = 7 KV/cm. On the basis of the fact that the electrons in the 2DEG have larger peak velocity and shorter transient time of velocity than those in the bulk GaAs, it is suggested that the device with 2DEG may obtain higher mobility than that with bulk GaAs.

  • PDF

Compact Orthomode Transducer for Field Experiments of Radar Backscatter at L-band (L-밴드 대역 레이더 후방 산란 측정용 소형 직교 모드 변환기)

  • Hwang, Ji-Hwan;Kwon, Soon-Gu;Joo, Jeong-Myeong;Oh, Yi-Sok
    • The Journal of Korean Institute of Electromagnetic Engineering and Science
    • /
    • v.22 no.7
    • /
    • pp.711-719
    • /
    • 2011
  • A study of miniaturization of an L-band orthomode transducer(OMT) for field experiments of radar backscatter is presented in this paper. The proposed OMT is not required the additional waveguide taper structures to connect with a standard adaptor by the newly designed junction structure which bases on a waveguide taper. Total length of the OMT for L-band is about 1.2 ${\lambda}_o$(310 mm) and it's a size of 60 % of the existing OMTs. And, to increase the matching and isolation performances of each polarization, two conducting posts are inserted. The bandwidth of 420 MHz and the isolation level of about 40 dB are measured in the operating frequency. The L-band scatterometer consisting of the manufactured OMT, a horn-antenna and network analyzer(Agilent 8753E) was used STCT and 2DTST to analysis the measurement accuracy of radar backscatter. The full-polarimetric RCSs of test-target, 55 cm trihedral corner reflector, measured by the calibrated scatterometer have errors of -0.2 dB and 0.25 dB for vv-/hh-polarization, respectively. The effective isolation level is about 35.8 dB in the operating frequency. Then, the horn-antenna used to measure has the length of 300 mm, the aperture size of $450{\times}450\;mm^2$, and HPBWs of $29.5^{\circ}$ and $36.5^{\circ}$ on the principle E-/H-planes.

Characterization of a new variety 'Chung' by intra-specific hyphal anastomosis in Pleurotus ostreatus (계통간 교잡에 의한 느타리 품종 '청'의 육성 및 그 특성)

  • Yoo, Young Bok;Lee, Sang Cheol;Jung, Won Soon;Jang, Kab Yeul;Kong, Won Sik;Cheong, Jong Chun;Oh, Se Jong;Jhune, Chang Sung
    • Journal of Mushroom
    • /
    • v.6 no.2
    • /
    • pp.47-51
    • /
    • 2008
  • The Oyster mushroom is saprophytic fungus. The pileus is stemmed at the side and later depressed. It grows to 5-15 cm, and is of grey, grey-lilac, blackish-grey, steel grey, grey-brown, and blue-blackish. Various kinds of Oyster mushrooms such as golden, pink, brown, grey, white, and blue make marketing an interesting challenge depending upon the market niche. A new commercial strain "Chung" of oyster mushroom was developed by hyphal anastomosis. It was improved with hybridization between monokaryotic strain derived from Pleurotus ostreatus ASI 2194 and ASI 2487. The pileus of parental strain ASI 2194 and ASI 2487 was grey and light blue-grey, respectively. Most of intra-specific hybrids between strain ASI 2194 and ASI 2487 were showed similar pileus color of parents. By the way, the pileus color of variety 'Chung' was blue to bluish grey. The optimum temperatures of mycelial growth and fruiting body development was $25{\sim}30^{\circ}C$ and $12{\sim}16^{\circ}C$, respectively.

  • PDF

Genetic Analysis of Some Polymorphic Isozymes in Pinus densiflora (I) -Inheritance of Glutamate-Oxalate Transaminase and Leucine Aminopeptidase, and Linkage Relationship among Allozyme Loci- (소나무의 몇가지 다형적(多形的) 동위효소(同位酵素)의 유전분석(遺傳分析)(I) -Glutamate-Oxalate Transaminase 와 Leucine Aminopeptidase의 유전(遺傳)과 동위효소(同位酵素) 유전자좌(遺傳子座) 간(間)의 연관관계(連關關係)-)

  • Kim, Zin Suh;Hong, Yong Pyo
    • Journal of Korean Society of Forest Science
    • /
    • v.58 no.1
    • /
    • pp.1-7
    • /
    • 1982
  • Megagametophyte and embryo tissue of Pinus densiflora were subjected to study the inheritance of glutamate-oxalate transaminase(GOT) and leucine aminopeptidase(LAP), and linkage relationship among isozyme loci coding both enzymes by starch gel zone-electrophoresis. Four zones of activity were observed for GOT. No variation was found in the fastest migrating zone (GOT-A). Electrophoretic phenotypes of the other two zones (GOT-B and GOT-C) showed 1:1 segregation ration, suggesting that each zone is controlled by a single locus. Foru and three alleles were identified at both loci respectively. The isozyme pattern of the fourth zone(GOT-D), migrated cathodally, coincided precisely with that of GOT-C. Whether the two zones are controlled by the same locus or by two tightly linked loci remained unknown. In all three variant GOT zones, heterozygoes embryos produced triple band patterns, indicating that GOT isozyme in Pinus densiflora is a dimer. Two zones of activity stained for LAP were found. The segregation of the two zones (LAP-A and LAP-B) suggested that tow loci control each of both isozymes. Two and three alleles were identified at both loci. GOT-B and LAP-B were found to be tightly linked, showing an average recombination frequency of 12.5 percent. Slight deviation from independent assortment was observed between GOT-B and GOT-C, with recombination frequency of 41 percent.

  • PDF

Early postoperative arrhythmias after open heart surgery of pediatric congenital heart disease (소아 선천성 심장병 개심술 후 발생한 조기 부정맥)

  • Choi, Hee-Joung;Kim, Yeo-Hyang;Cho, Joon-Yong;Hyun, Myung-Chul;Lee, Sang-Bum;Kim, Kyu-Tae
    • Clinical and Experimental Pediatrics
    • /
    • v.53 no.4
    • /
    • pp.532-537
    • /
    • 2010
  • Purpose : Early postoperative arrhythmias are a major cause of mortality and morbidity after open heart surgery in the pediatric population. We evaluated the incidence and risk factors of early postoperative arrhythmias after surgery of congenital heart disease. Methods : From January 2002 to December 2008, we retrospectively reviewed the medical records of the 561 patients who underwent cardiac surgery in Kyungpook National University Hospital. We analyzed patients' age and weight, occurrence and type of arrhythmia, cardiopulmonary bypass (CPB) time, aortic cross clamp (ACC) time, and postoperative electrolyte levels. Results : Arrhythmias occurred in 42 of 578 (7.3%) cases of the pediatric cardiac surgery. The most common types of arrhythmia were junctional ectopic tachycardia (JET) and accelerated idioventricular rhythm (AIVR), which occurred in 17 and 13 cases, respectively. The arterial switch operation (ASO) of transposition of the great arteries (TGA) had the highest incidence of arrhythmia (36.4%). Most cases of cardiac arrhythmia showed good response to management. Patients with early postoperative arrhythmias had significantly lower body weight, younger age, and prolonged CPB and ACC times ($P$<0.05) than patients without arrhythmia. Although the mean duration of ventilator care and intensive care unit stay were significantly longer ($P$<0.05), the mortality rate was not significantly different among the 2 groups. Conclusion : Early postoperative arrhythmias are a major complication after pediatric cardiac surgery; however, aggressive and immediate management can reduce mortality and morbidity.

Material Characteristics and Deterioration Assessment of the Stone Buddhas and Shrine in Unjusa Temple, Hwasun, Korea (화순 운주사 석조불감의 재질특성과 풍화훼손도 평가)

  • Park, Sung-Mi;Lee, Myeong-Seong;Choi, Seok-Won;Lee, Chan-Hee
    • Journal of Conservation Science
    • /
    • v.24
    • /
    • pp.23-36
    • /
    • 2008
  • The stone Buddhas and Shrine of Unjusa temple (Korea Treasure No. 797) in Hwasun formed in Koryo Dynasty are unique style which the Buddha faces each other the back parts of south and north within the stone Shrine. The stone Buddhas and Shrine are highly evaluated in historical, artistic and academic respects. But, the stone properties have been exposed in the open system various aspects of degradations weathered for a long time without specific protective facilities. The rock materials of the stone Buddhas and Shrine are about 47 blocks, and total press load is about 56.6 metric ton. The host rocks composed mainly of white grey hyaline lithic tuff and rhyolitic tuff breccia. In addition, biotite granite used as part during the restoration works. The chemical index of alteration for host tuffaceous rocks and the replacement granites range from 52.1 to 59.4 and 50.0 to 51.0, respectively. Weathering types for the stone Buddhas and Shrine were largely divided with physical, chemical and biological weathering to make a synthetic deterioration map according to aspects of damage, and estimate share as compared with surface area. Whole deterioration degrees are represented that physical weathering appeared exfoliation. Chemical weathering is black coloration and biological weathering of grey lichen, which show each lighly deterioration degrees. According to deterioration degree by direction of stone Buddhas and Shrine, physical weathering mostly appeared by 39.1% on the sorthern part, and chemical weathering is 61.2% high share on the western part. Biological weathering showed 38.3% the largest distribution on the southern part. Therefore, it is necessary to try hardening for the parts with serious cracks or exfoliations, remove secondary contaminants and organisms through regular cleaning. Also necessary to make a plan to remove moisture of the ground which causes weathering, and estimate that need established and scientific processing through clinical demonstration of conservation plan that chooses suitable treatment.

  • PDF

Clinical Investigation about the Result of Surgically Treated Myasthenia Gravis (중증 근무력증의 수술적 치료결과에 대한 임상적 고찰)

  • 김대현;황은구;조규석;김범식;박주철
    • Journal of Chest Surgery
    • /
    • v.36 no.1
    • /
    • pp.15-20
    • /
    • 2003
  • Myasthenia gravis is a rare autoimmune disease involving acetylcholine receptor and its autoantibody on neuromuscular junction. The methods of treatment are medical treatment and surgical thymectomy. In this paper we analyzed the result of thymectomy and the factors affecting the postoperative symptom improvement. Material and method : This study obtained medical records of 37 patients who received the thymectomy for myasthenia gravis from March 1986 to December 1998. Result Out of 37 cases, 21 cases(57%) showed improvement, of which 8 cases (50%) in the group of thymoma(n=16), and 13 cases (62%) in the group of thymic hyperplasia(n=21) showed the improvement of symptoms. Postoperative complications were respiratory insufficiency due to aggravation of symptoms after operation, including tracheal intubation for ventilator support in 9 cases, pneumonia in 3 cases, pneumothorax in 2 cases and left vocal cord palsy in 1 case. There was one postoperative mortality. The relation between postoperative improvement and sex(P=0.3222), age(P=0.7642), thymic pathologic variants,(P=0.4335) and classification of thymoma(P=0.20) showed no statistically significant correlation. However, the lower grade of preoperative symptoms can predict the lower grade of postoperative symptoms significantly(P=0.0032). Follow up study to 36 postoperative survivors was performed in October 2002 based on the out-patient records and call with patients. Out of 36 cases, 33 cases(91.7%) could be investigated and 3 cases could not. Mean follow up period was 83.2 months. Out of 33 cases, 25 cases(75.8%) showed symptomatic improvement, of which 8 cases(53.3%) in the group of thymoma(n=15) and 17 cases(94.4%) in the group of thymic hyperplasia(n=18) showed the improvement of$\boxUl$ symptoms. Conclusion : In myasthenia gravis, thymectomy showed the good improvement, and more important factor affecting the improvement of symptoms was the grdae of preoperative symptoms. Also midterm and long term follow up results showed good symptomatic improvement.