• Title/Summary/Keyword: $^1H-\

Search Result 66,756, Processing Time 0.1 seconds

Positron Annihilation Spectroscopy of Active Galactic Nuclei

  • Doikov, Dmytry N.;Yushchenko, Alexander V.;Jeong, Yeuncheol
    • Journal of Astronomy and Space Sciences
    • /
    • v.36 no.1
    • /
    • pp.21-33
    • /
    • 2019
  • This paper focuses on the interpretation of radiation fluxes from active galactic nuclei. The advantage of positron annihilation spectroscopy over other methods of spectral diagnostics of active galactic nuclei (therefore AGN) is demonstrated. A relationship between regular and random components in both bolometric and spectral composition of fluxes of quanta and particles generated in AGN is found. We consider their diffuse component separately and also detect radiative feedback after the passage of high-velocity cosmic rays and hard quanta through gas-and-dust aggregates surrounding massive black holes in AGN. The motion of relativistic positrons and electrons in such complex systems produces secondary radiation throughout the whole investigated region of active galactic nuclei in form of cylinder with radius R= 400-1000 pc and height H=200-400 pc, thus causing their visible luminescence across all spectral bands. We obtain radiation and electron energy distribution functions depending on the spatial distribution of the investigated bulk of matter in AGN. Radiation luminescence of the non-central part of AGN is a response to the effects of particles and quanta falling from its center created by atoms, molecules and dust of its diffuse component. The cross-sections for the single-photon annihilation of positrons of different energies with atoms in these active galactic nuclei are determined. For the first time we use the data on the change in chemical composition due to spallation reactions induced by high-energy particles. We establish or define more accurately how the energies of the incident positron, emitted ${\gamma}-quantum$ and recoiling nucleus correlate with the atomic number and weight of the target nucleus. For light elements, we provide detailed tables of all indicated parameters. A new criterion is proposed, based on the use of the ratio of the fluxes of ${\gamma}-quanta$ formed in one- and two-photon annihilation of positrons in a diffuse medium. It is concluded that, as is the case in young supernova remnants, the two-photon annihilation tends to occur in solid-state grains as a result of active loss of kinetic energy of positrons due to ionisation down to thermal energy of free electrons. The single-photon annihilation of positrons manifests itself in the gas component of active galactic nuclei. Such annihilation occurs as interaction between positrons and K-shell electrons; hence, it is suitable for identification of the chemical state of substances comprising the gas component of the investigated media. Specific physical media producing high fluxes of positrons are discussed; it allowed a significant reduction in the number of reaction channels generating positrons. We estimate the brightness distribution in the ${\gamma}-ray$ spectra of the gas-and-dust media through which positron fluxes travel with the energy range similar to that recorded by the Payload for Antimatter Matter Exploration and Light-nuclei Astrophysics (PAMELA) research module. Based on the results of our calculations, we analyse the reasons for such a high power of positrons to penetrate through gas-and-dust aggregates. The energy loss of positrons by ionisation is compared to the production of secondary positrons by high-energy cosmic rays in order to determine the depth of their penetration into gas-and-dust aggregations clustered in active galactic nuclei. The relationship between the energy of ${\gamma}-quanta$ emitted upon the single-photon annihilation and the energy of incident electrons is established. The obtained cross sections for positron interactions with bound electrons of the diffuse component of the non-central, peripheral AGN regions allowed us to obtain new spectroscopic characteristics of the atoms involved in single-photon annihilation.

A Study on the Functional Feeding Groups and Community Stability of Benthic Macroinvertebrate in Forest Fire Area (산불지의 저서성대형무척추동물 섭식기능군 및 군집안정성에 관한 연구)

  • Sim, Kwang Sub;Kim, Myoung Eun;Lim, Joo Hoon;Seo, Eul Won;Lee, Jong Eun
    • Journal of Korean Society of Forest Science
    • /
    • v.100 no.1
    • /
    • pp.112-117
    • /
    • 2011
  • This study was conducted for searching the functional feeding groups, and community stability of the macroinvertebrate on forest fire area of Uljin-gun. The samples were collected from 2 sites of control area and 2 sites of experimental area during 2007 to 2009. The identified species were 89 belonged to 47 families, 16 order, 6 class, and 4 phylum in control area. And 84 belonged to 43 families, 16 order, 6 class, and 4 phylum were identified in experimental area. As a result of changes in species and individuals of E.P.T. taxa investigated in experimental area by year, Ephemeroptera was 21 species, $2,434.6inds./m^2$, Plecoptera was 3 species, $199.8inds./m^2$, and Trichoptera 14 species, $540.2inds./m^2$ in 2007. And in 2009, Ephemeroptera was 9 species, $296inds./m^2$, Trichoptera was 4 species, $44.4inds./m^2$, and Plecoptera was none, showing that species and individuals belonging to E.P.T. taxa decrease rapidly every year. Community analysis by year, in 2008 when the water system started to be influenced by the fire directly, it showed a trend that H' and RI decreased in the experimental area. Functional feeding group by year, it showed a trend that species and individuals of GC type which is a functional group picking up and eating FPOM (fine particulate organic matter) from deposits in the bottom of water or benthic areas and performs an important function of material circulation in ecosystem decrease every year. Community stability by year, an environment of water system in forest fire area started to be somewhat destroyed, from 2008, it is shown that both species in I area which have great ability of resistance and recovery and species in III area which live in relatively stable water system decreased a little.

Der Vollrauschtatbestand de lege ferenda (완전명정죄 처벌규정의 입법론)

  • Seong, Nak-Hyon
    • Journal of Legislation Research
    • /
    • no.55
    • /
    • pp.137-166
    • /
    • 2018
  • Wenn nach dem starken Trinken etwas strafbares passiert, so ist das Gesamtverhalten als $strafw{\ddot{u}}rdig$ und strafbar anzuerkennen. Aber nach dem Schuldprinzip handelt ohne Schuld, wer bei Begehung der Tat $unf{\ddot{a}}hig$ ist, das Unrecht der Tat einzusehen oder nach dieser Einsicht zu handeln(Koinzidenzprinzip). Die Rechtsfigur der "actio libera in causa" dient dazu, diese in $h{\ddot{a}}ufigen$ $F{\ddot{a}}llen$ als kriminalpolitisch $unerw{\ddot{u}}nscht$ empfundene $L{\ddot{u}}cke$ zu umgehen. Dabei kommt auch dem Vollrauschtatbestand in der Praxis $erh{\ddot{o}}hte$ Bedeutung zu. Der deutsche Gesetzgeber war sich bei der Aufnahme des Vollrauschtatbestandes in das Gesetz durchaus $bewu{\ss}t$, $da{\ss}$ die Vorschrift eine Ausnahme zur Schuldzurechnungsregelung darstellte. Er $w{\ddot{a}}hlte$ jedoch die Form eines $selbst{\ddot{a}}ndigen$ Tatbestandes, um die Durchbrechung des reinen Schuldprinzips $ertr{\ddot{a}}glich$ zu machen. Der Vollrauschtatbestand ist ein abstraktes $Gef{\ddot{a}}hrdungdsdelikt$ -demnach die im Rausch verwirklichte rechtswidrige Tat nur objektive Bedingung der Strafbarkeit ist -, das sachlich eine Schuldzurechnungsregelung $enth{\ddot{a}}lt$, und zwar eine Ausnahme $gegen{\ddot{u}}ber$ die Regelungen ${\ddot{u}}ber$ Schuldzurechnung. Dieser Vollrauschtatbestand ist dennoch als regitime $Erg{\ddot{a}}nzung$ der in Schuldzurechnungsregelungen beschriebenen $Schuldzurechnungsgrunds{\ddot{a}}tze$ anzusehen. Er steht $n{\ddot{a}}mlich$ in Einklang mit dem Schuldgrundsatz, wenn als subjektives Tatbestandsmerkmal des Vollrausches die Kenntnis der $Gef{\ddot{a}}hrlichkeit$ des Rauschzustandes $f{\ddot{u}}r$ die Begehung von Delikten vorausgesetzt wird.

Floristic features of upland fields in South Korea (우리나라 밭 경작지에 출현하는 식물상 특성)

  • Kim, Myung-Hyun;Eo, Jinu;Kim, Min-Kyeong;Oh, Young-Ju
    • Korean Journal of Environmental Biology
    • /
    • v.38 no.4
    • /
    • pp.528-553
    • /
    • 2020
  • Upland fields are characterized by dry environments, a high degree of disturbance by farming practices such as double-cropping, and a high diversity of crops compared to other field types. This study focused on the floristic composition and characteristics of upland fields in South Korea. Flora surveys were conducted in 36 areas in nine provinces at two times (June and August) in 2015. The results showed that the vascular plants in the upland fields in South Korea included 532 taxa, containing 100 families, 322 genera, 483 species, nine subspecies, 37 varieties, one form, and two hybrids. Among the 100 families, Asteraceae was the most diverse in species (75 taxa), followed by Poaceae (68 taxa), Fabaceae (34 taxa), Polygonaceae (21 taxa), Rosaceae (19 taxa), and Liliaceae (17 taxa). Based on the occurrence frequency of each species, Acalypha australis L. (100%), and Artemisia indica Willd. (100%) were the highest, followed by Humulus scandens (Lour.) Merr., Rorippa palustris (L.) Besser, Conyza canadensis (L.) Cronquist, Erigeron annuus (L.) Pers., Lactuca indica L., Commelina communis L., Digitaria ciliaris (Retz.) Koeler, Echinochloa crus-galli(L.) P.Beauv., Cyperus microiria Steud., and Oxalis corniculata L. The biological type of upland fields in South Korea was determined to be Th-R5-D4-e type. Rare plants were found in 11 taxa: Taxus cuspidata Siebold & Zucc, Magnolia kobus DC, Clematis trichotoma Nakai, Aristolochina contorta Bunge, Buxus sinica (Rehder & E.H.Wilson) M.Cheng var. koreana (Nakai ex Rehder) Q.L.Wang, Melothria japonica (Thunb.) Maxim, Mitrasacme indica Wight, Lithospermum arvense L., Carpesium rosulatum Miq., Allium senescens L., and Pseudoraphis sordida (Thwaites) S.M.Phillips & S.L.Chen. Ninety-seven taxa contained naturalized plants composed of 24 families, 68 genera, 97 species, one variety, and one form. The urbanization and naturalization indices were 30.5% and 18.4%, respectively.

Protective effect of matcha green tea (Camellia sinensis) extract on high glucose- and oleic acid-induced hepatic inflammatory effect (고당 및 올레산으로 유도된 간세포에서의 염증반응에 대한 말차(Camellia sinensis) 추출물의 보호효과)

  • Kim, Jong Min;Lee, Uk;Kang, Jin Yong;Park, Seon Kyeong;Shin, Eun Jin;Moon, Jong Hyun;Kim, Min Ji;Lee, Hyo Lim;Kim, Gil Han;Jeong, Hye Rin;Park, Hyo Won;Kim, Jong Cheol;Heo, Ho Jin
    • Korean Journal of Food Science and Technology
    • /
    • v.53 no.3
    • /
    • pp.267-277
    • /
    • 2021
  • To evaluate hepatoprotective effects, the antioxidant capacities of matcha green tea extract (Camellia sinenesis) were compared to those of green leaf tea and the anti-inflammatory activities in HepG2 cells were investigated. Evaluation of the total phenolic and total flavonoid content, 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS) and 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical scavenging activity, and inhibitory effect on lipid peroxidation indicated that the aqueous extract of matcha green tea presented significant catechin content and antioxidant capacity compared to those of green leaf tea. In addition, the extract had considerable inhibitory effects on α-glucosidase, α-amylase, and advanced glycation end-products. The matcha green tea extract significantly increased cell viability and reduced reactive oxygen species in H2O2- and high-glucose-treated HepG2 cells. Furthermore, in response to oleic acid-induced HepG2 cell injury, treatment with matcha green tea aqueous extract inhibited lipid accumulation and regulated the expression of inflammatory proteins such as p-JNK, p-Akt, p-GSK-3β, caspase-3, COX-2, iNOS, and TNF-α. Matcha green tea could be used as a functional material to ameliorate hepatic lipid accumulation and inflammation.

Manufacturing and Quality Characteristics of Puffed Black Bean Fermented by Lactobacillus plantarum Strains Isolated from Kimchi (김치 유래 Lactobacillus plantarum을 이용한 팽화 검은콩 발효물의 제조 및 품질특성)

  • Hwang, Un-Sik;Jeong, So-Yeon;Park, Soo-Yeon;Park, Mi-Sun;Kang, Min-Ji;You, Cheong-Bin;Seo, Hyun-Ji;Lee, Eun-Soo;Yun, Sang-Man;Park, Hoon;Suh, Hee-Jae
    • Journal of Food Hygiene and Safety
    • /
    • v.35 no.6
    • /
    • pp.618-629
    • /
    • 2020
  • The purpose of this study was to optimize the fermentation condition of black bean by lactic acid bacteria (LAB) and to evaluate the quality characteristics of fermented black bean. Lactobacillus plantarum SU22 isolated from kimchi was selected as a starter for the fermentation of black bean because the strain exhibited strong antimicrobial activity against pathogenic bacteria and did not produce biogenic amines or a carcinogenic enzyme, β-glucuronidase. Fermentation was performed with broth containing puffed black bean (PBB) inoculated with 1% (v/v) of L. plantarum SU22 at 37℃ for 48h. The viable cell count of LAB was over 9 Log CFU/mL in PBB (20%) broth fermented with L. plantarum SU22. Fermentation of alcalase-treated PBB (20%) broth with L. plantarum SU22 was found to be the optimal condition, increasing viable cell count of LAB up to 10.30 Log CFU/mL. Under the optimal condition, the total polyphenol content (94.02 mg GAE/g) and DPPH radical scavenging activity (92.50%) were significantly increased, compared to non-fermented control (87.74 mg GAE/g, 83.14%).

Initial Analysis of the Underground Air Among Jeju Lava Forest(Sumgol) and its Healing Effect on the Human Body (제주 현무암 '숲' 지하 공기(숨골: Sumgol)의 분석과 인체에 미치는 치유 효과)

  • Sin, SBangsik;Kim, Hyek Nyeon;Lee, Deok Hee;Kim, Tae Seung;Kim, Yong Hwan;Kang, Chang Hee;Song, Kyu Jin;Lee, Hyung H.
    • Journal of Naturopathy
    • /
    • v.11 no.1
    • /
    • pp.18-30
    • /
    • 2022
  • Background: It was to develop an air purification system (APS) using an underground air purification layer to verify the effect of basalt forest's underground air (sumgol) on a volcanic Jeju. Finally, it is necessary to analyze these purified air components and their usefulness to the human body in an air experience center. Purpose: It was to collect basalt forest air, analyze its composition, and explore its effect on the human body. Methods: We APS devices installed at four points in the Papaville area of Jeju. The air discharged from the APS was collected and analyzed the recycling components. An installed experience room filled with negative ions is about 5,000 ions/m3. After allowing the participants to stay for 60 to 120 minutes, we investigated the state of blood vessels. Results: In the analysis of the underground air, the O2 concentration was 21.18%, which was higher than the average oxygen concentration of 20.94% in the atmosphere. However, Formaldehyde was not detected, and the CO2 was 419 ppm, which was lower than that of indoor air. The PM2.5 concentration was less than 24 ㎍/m3 and detected anions over 5.000 /m3. The experiencer's vascular states improved, and the increase in pulse rate and stress relief were high. Conclusions: The valuable ingredients identified by analyzing the air were precious for natural healing. The experience results showed that it effectively improved the pulse rate, blood vessels, and stress. These conditions may be highly beneficial as a new area for expanding the basalt lava forest in the Jeju area into the natural healing and wellness industry.

Yearly Occurrence of Thrips Infesting Hot Pepper in Greenhouses and Differential Damages of Dominant Thrips (시설 고추재배지 총채벌레 연중 발생 및 주요 총채벌레의 차등 해충성)

  • Kim, Chulyoung;Choi, Duyeol;Lee, Donghyun;Khan, Falguni;Kwon, Gimyon;Ham, Eunhye;Park, Jungjoon;Kil, Eui-Joon;Kim, Yonggyun
    • Korean journal of applied entomology
    • /
    • v.61 no.2
    • /
    • pp.319-330
    • /
    • 2022
  • Andong is a place to culture the great amount of hot pepper (Capsicum annuum L.) in Korea. This study reports a yearly occurrence (March 31~October 25, 2021) of thrips infesting the hot pepper in Andong. Thrips caught to yellow sticky traps were diagnosed by morphological characters and showed two dominant species: Frankliniella occidentalis and F. intonsa. During this period, a total of 107,874 thrips were caught and included F. occidentalis at about 82%, F. intonsa at about 17%, and the other thrips at about 0.3%. There were two main peaks at May~June and at September~October, respectively, in which the total number of thrips was higher in the second peak and most were F. occidentalis. Interestinly, a low level of thrips occurred during July~August was observed and explained by their susceptibility to high temperatures. A laboratory experiment by exposing thrips to high temperatures showed that thrips were susceptible to temperatures higher than 35℃ and not tolerant to 45℃ for 1 h. Indeed, high temperatures higher than 45℃ were recorded in the greenhouses in Andong during July~August. F. occidentalis was more tolerant to the high temperatures than F. intonsa. On the other hand, the thrips showed the highest occurrence peak at July~August in hot pepper-culturing greenhouse in Kangwon, where the average temperatures were mostly lower than those of Andong and no high temperatures higher than 45℃ were recorded during July~August. A viral disease caused by tomato spotted wilt virus (TSWV) was observed in the hot peppers cultured in Andong greenhouses. Multiplex PCR was used to detect the virus along with identification of thrips. With a high record of about 30%, the virus-infected thrips were detected during all the monitoring period. The virulent thrips were identified to be only F. intonsa. These results suggest that F. occidentalis gives a direct damage especially during harvesting period with their high populations while F. intonsa gives indirect damage by transmitting TSWV.

Health Promotion Through Healthy People 2010 ("2010년대 건강한 시민" 정책을 통한 미국의 건강증진 방향)

  • Cho, Jung H.
    • Proceedings of The Korean Society of Health Promotion Conference
    • /
    • 2004.10a
    • /
    • pp.17-58
    • /
    • 2004
  • 뉴저지주 보건교육/건강 증진정책을 논하기전에 건강증진과 보건 교육사의 뜻을 먼저 기술하기로 한다. 건강증진이란 일상 사회생활과 행동과학의 응용에서 시작하며 교육의 효율적 작전 및 기술, 질병 역학 조사, 개인 및 가족단위 건강 위해 행위 절감, 사회연관 구축망 조성, 그리고 적게는 이웃, 더 나아가 조직체계 및 지역 사회의 네트웍 실시등을 실시한다. 보건교육 및 건강증진 전문가란 ' 전국 보건교육 인증 위원회(NCHEC) ' 에서 채택된 다음 7개 활동 영역에서 개인적, 그룹, 각주단위, 그리고 범 국가적 조직에서 종사하는자로 한다. 개인 및 지역사회 보건 교육 필요성 분석- 계회, 실행, 효율성 평가, 사업 진행 조정, 자문, 컴뮤니케이션 등의 활동범위를 들 수 있다. 공인 보건 교육사(CHES)란 대학 및 대학원에서 보건 교육학 소정의 필수 과목을 이수하고 학.석사 소지자로서 ' 전국 보건 교육 인증 위원회 ' 에서 그 자격을 인정 받고 공인 자격 시험에 합격한자로 한다. 합격자는 자기 성명뒤에 CHES란 칭호를 부치며 매 5년마다 75단위이상 인정된 전문 직업 보수 교육을 받아야 한다. 보건 교육사 고용 분야는 연방, 주, 지방 정부의 보건 교육사(10-15%) 및 건강 증진 전문가로 종사하며; 이들은 지역 사회 조직화, 프로그람 기획, 공공사업 마켓팅, 메디아, 컴뮤니케이션 자질을 갓추어야 하며; 상해 예방, 학교 보건, 지역 사회 영양 실태 향상, 그 외 모든 건강 증진과 질병 예방에 일익을 담당 하여; 의사, 간호사, 약사, 영양사,환경 위생사드의 전문분야종사자들괴 한팀이 되어 지역 사회 보건 사업에 기여한다. 쥬저지 보건 교육사들은 주법령 8조 '||'&'||' 보건행정 표준 시행령 ' 에 따라 포괄적 보건교육/건강증진 프로그램을 개발하여 총체적으로 조절 관장한다. 특희 ' 미국 학술원 의료 연구원 ' 에서 제정한 ' 10대 필수 공중 보건 사업 ' 에 기준을 두고; 1) 개인 및 지역사회 필수 보건 여건 분석 평가, 2) 보건 교육 이론에 따른 사업 계획 설정, 3) 교육 전략과 보건문제 발굴에 따라 일반 대중 대상 보건 교육 실행 (프로그람 기획, 연수 교육, 미디어 캠페인, 공중보건 향상책 옹호), 4) 사업 진행 과정 정리, 그 결과에 대한 영향력과 결과 평가, 5) 프로그램진행, 인사 및 예산관리 참여, 6) 근무향상을 위한 보수교육 프로그램 개발, 7) 보건 의료 업무 종사자 상호 협조성 향상 훈련, 8) 지역 사회자원 밭굴, 9) 적절한 고객 의뢰 체제 시행, 10) 위기 관리 컴뮤니케이션 체제 개발실시, 11) 일반 대중에게 공중 보건 향상 고취, 12) 각종 협력 지원금 신청서 작성 제출, 13) 문화/인종적으로 적절한 시청각 교재 발굴, 15) 질적 및 양적 보건교육/건겅증진책 연구 실시, 16) 비 보험 가담자, 저 보험자, 빈곤자, 이민자 색출 선도, 17) 관활 구역내 상재하는 각 건강증진 프로그램 밝혀 내서 불필요한 중복 회피등이다. 그 외에도 보건 교육사들은 사회 복지 단체인 미국 암 협회, 미국 심장 협회,미국 폐장 협회 등 각종 사회 복지 비영리단체 와 자선 사업 단체들과 긴밀희 협조하거나 그 단체 임직원으로서 건강 증진 사업에 종사한다. 병원 및 의료기관에선 임직원 보수 교육, 환자의 질병 예방및 건강증진 교육, 그리고 의료 사업장내 건장 증진업무에 종사한다. 건강 유지 의료 기관(HMO)에선 예방주사, 정기검진 촉진등을 통한 입원일수 절감, 응급실 사용도 절감등으로 의료비 감축, 삶의질 향상상에 종사한다. 사업장 보건 교육사는 스트레스 관리, 금연 및 흡연 중단선도, 체중 절감, 종업원 건강증진 생활화참여 유치, 컴뮤니케이션 개발, 마켓팅, 질병 예방등에 그 전문 직업적 노하우를 사업체 건강 증진 프로그램 개발에 접목한다. 뉴저지 2010년대 건강 증진책은 5대 목표 설정하여 현재 시행하고 있다. 특이한점은 2001년 9.11사태 이후 연방정부와 주정부의 상당한 예산 지원을 그랜트 지원금 형식으로 받아 연방, 주정부, 지방 정부, 의료 기관등에서 일사 불란하게 생물/화학/방사성 테러에 대비하는데 보건 교육사들은 시민 인지도 향상과 위기관리 컴뮤니케이션 영역에서 활약한다. 총체적인 보건 교육/건강 증진책은 다음 천년간 뉴저지 건강증진 백서와 미연방 정부 건강증진 2010에 준하여 설립한 뉴저지 건강 증진 2010 에 의한다. 그 모델을 보면; 1) 생활 습관 향상으로 위해 행위 절제; 적절한 영양 섭취 와 과체중화 차단 불필요한 투약 절제와 그 관리 흡연 탐익 절감, 금연, 흡연관련 신체/정신적 피해 관리/치료 습관성 약물 중독 조기발견 예방 낙상 예방 폭력, 의도적/비의도적 상해 예방 2) 심장질환, 암, 뇌졸중, 당뇨, 폐염, 인프루엔자등 주사망원인 질병 조기 발견 예방 책 마련; 독감.폐렴 예방 주사 실시 3) 보건 교육 대상과 표적 설정 특히 보건사업 참여 동반자 발굴하여 그 동참과 책임분담 책려; 주. 지방 정부기관, 의료 종사자, 의료 보험 업자, 대학 등 교육 기관, 연구 기관, 교육자, 지방 보건소, 지역 사회 비 영리단체, 종교 단체 및 교역자 등의 참여 촉구., 지역 사회 비 영리단체, 종교 단체 및 교역자 등의 참여 촉구.

  • PDF

A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.22 no.2
    • /
    • pp.58-62
    • /
    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.