http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Sohn, Young Bae,Kim, Su Jin,Park, Sung Won,Park, Hyung‐,Doo,Ki, Chang‐,Seok,Kim, Chi Hwa,Huh, Seung Won,Yeau, Sunghee,Paik, Kyung‐,Hoon,Jin, Dong‐,Kyu Wiley Subscription Services, Inc., A Wiley Company 2010 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Vol.a152 No.12
<P><B>Abstract</B></P><P>Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency of iduronate‐2‐sulfatase. Most reported patients are males because of X‐linked recessive inheritance pattern. Only a few female patients with Hunter syndrome have been reported, and there is no prior report of offspring from a patient with Hunter syndrome. In this report, we describe a woman with mild manifestations of Hunter syndrome who gave birth to a daughter. Both the mother and daughter carried the p.R443X mutation in exon 9 of the <I>ID2S</I> gene. Iduronate‐2‐sulfatase activity in the mother was as low as that found in male Hunter syndrome patients, but it was in the low‐normal range in her daughter. Unlike her mother, the daughter did not show any physical signs of Hunter syndrome, and urinary excretion of glycosaminoglycan was within normal range. However, she had severe pulmonary vein stenosis with pulmonary hypertension and a large atrial septal defect and died at 11 months of age. © 2010 Wiley‐Liss, Inc.</P>
송아리,이진성,임민지,박형두,조성윤,진동규,Song, Ari,Lee, Jin Sung,Im, Minji,Park, Hyung Doo,Cho, Sung Yoon,Jin, Dong-Kyu 대한유전성대사질환학회 2018 대한유전성대사질환학회지 Vol.18 No.2
Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth. 헌터증후군이라고 불리는2형 뮤코다당증은 리소좀 축적 질환 중 하나로 이두로네이트 2-설파타제 효소의 기능 저하로 인해 여러 세포와 조직에 글리코사미노글리칸이 축적되어 여러 장기 기능에 부전을 초래하는 선천성 대사질환이다. 헌터증후군은 X 염색체의 장완(Xq28)에 위치하고 있는 IDS 유전자의 변이로 인하여 발생하며 최근까지 350개 이상의 변이가 보고되어 있다. 헌터증후군은 중추 신경계 증상 및 인지 기능 저하 정도에 따라 중증 표현형과 경증 표현형으로 나뉘는데, 표현형은 유전자 변이의 종류와 연관이 있기 때문에 변이를 아는 것은 추후 예후를 예측하는 데에 도움이 된다. 저자들은 최근 항경련제로 조절되지 않는 영아연축으로 내원한 7개월 남에서 엑솜 시퀀싱을 통하여 헌터 증후군을 진단하였다. 환아는 생후 2개월에 난청을 진단 받고 생후 3개월 경 영아연축으로 비가바트린, 프레드니솔론를 복용하였으나 영아연축이 호전되지 않았고, 이에 대한 검사로 시행한 엑솜시퀀싱 상 우연히 반접합체인 어머니로부터 유전된 c.851C>T (p.Pro284Leu) 변이가 발견되었다. 소변을 통한 뮤코다당증 선별 검사인 CPC 검사 결과는 생후 8개월까지 음성이었으나 생후 9개월에는 양성 결과를 보였고, 효소대체요법이 시작된 3개월 이후인 생후 12개월 째에는 다시 음성이 되었다. 생후 15개월인 현재까지 헌터증후군의 특징적인 얼굴 모습이나 간비비대, 관절 구축 등의 증상은 관찰되고 있지 않으며, 조절되지 않는 영아 연축으로 약물 치료를 지속하고 있다. 이를 통하여 환아의 신경학적 증상이 중증 헌터증후군의 임상 증상이 아닌 헌터증후군과 동반된 다른 질환에 의한 것으로 보인다. 저자들은 특징적인 증상이 나타나기 이전인 생후 7개월에 엑솜시퀀싱을 통하여 헌터증후군을 진단하였고 생후 9개월부터 효소대체요법을 시행하여 이에 대해 보고하는 바이다.
조성윤,허림,장미선,이지은,Younghee Kwun,Se-Hyun Maeng,김수진,손영배,박성원,권은경,Sun Ju Han,정주연,진동규 대한의학회 2014 Journal of Korean medical science Vol.29 No.2
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase®) or idursulfase beta (Hunterase®) have been developed for these patients. The effect of ERT on the growth of Korean patients with Hunter syndrome was evaluated at a single center. This study comprised 32 patients, who had received ERT for at least 2 yr; they were divided into three groups according to their ages at the start of ERT: group 1 (<6 yr, n=14), group 2 (6-10 yr, n=11), and group 3 (10-20 yr, n=7). The patients showed marked growth retardation as they got older. ERT may have less effect on the growth of patients with the severe form of Hunter syndrome. The height z-scores in groups 2 and 3 revealed a significant change (the estimated slopes before and after the treatment were -0.047 and -0.007, respectively: difference in the slope, 0.04; P<0.001). Growth in response to ERT could be an important treatment outcome or an endpoint for future studies.
삽입교수를 활용한 AAC 중재가 헌터증후군 중학생의 의사소통 행동과 자발적 발성에 미치는 효과
최다영,한경임 한국지체.중복.건강장애교육학회 2021 지체.중복.건강장애연구 Vol.64 No.1
Purpose: The purpose of this study was to investigate the efficacy of AAC intervention using embedded instruction on the communicative behaviors and spontaneous vocalization of a middle school student with hunter syndrome. Method: The AAC intervention using embedded instruction was implemented throughout his school routines. The participant was a 14-year-old middle school student with hunter syndrome who has language ability comparable to that of a 7-month-old. The study used a multiple-probe baseline design across three behaviors. The correct responses on communicative function and the responses on spontaneous vocalization were measured during the observation. Results: First, the ratio of the student’s correct responses on the communicative behaviors (greeting, behavior regulation, turn-taking) were increased, generalized and maintained. Second, the amount of the student’s spontaneous vocalization was increased. Conclusion: The results of this study will provide useful information about AAC intervention for middle school students with severe genetic disorders. 연구목적: 본 연구의 목적은 헌터증후군 중학생을 대상으로 삽입교수를 활용한 AAC 중재를 실시하여 의사소통 행동과 자발적 발성의 효과를 살펴보는 것이었다. 연구방법: 본 연구의 참여자는 만 14세의 헌터증후군 중학생이었으며, 인사하기, 행동조절, 차례주고받기 행도엥 대해 행동간 중다간헐기초선 설계를 적용하여 의사소통 행동의 변화율과 자발적 발성 비율의 변화를 측정하였다. 연구결과: 의사소통 행동과 자발적 발성 변화를 위한 삽입교수 활용 AAC 중재 적용 결과, 첫째, 참여 학생의 인사하기, 행동조절, 차례 주고받기 행동이 증가하였고, 증가된 수행률은 일반화, 유지되었다. 둘째, 삽입교수를 활용한 AAC 중재를 통해 참여 학생의 자발적 발성 비율이 증가하였다. 결론: 본 연구는 학교 일과와 활동 중에 삽입교수를 적용한 AAC 중재를 실시하여 헌터증후군 중학생의 의사소통 행동에 미치는 영향을 살펴보고 퇴행성 질환 학생에게도 AAC 중재가 효과적으로 적용할 수 있음을 보여주었다는 데 연구의 의의가 있다.
Rotational Vertebral Artery Compression : Bow Hunter's Syndrome
Go, Gyeongo,Hwang, Soo-Hyun,Park, In Sung,Park, Hyun The Korean Neurosurgical Society 2013 Journal of Korean neurosurgical society Vol.54 No.3
Bow hunter's syndrome (BHS) is rare cause of vertebrobasilar insufficiency that arises from mechanical compression of the vertebral artery by head rotation. There is no standardized diagnostic regimen or treatment of BHS. Recently, we experienced 2 cases resisted continues medication and treated by surgical approach. In both cases, there were no complications after surgery and there were improvements in clinical symptoms. Thus, we describe our cases with surgical decompression with a review of the relevant medical literature.