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불명열(Fever of Unknown Origin, FUO)로 내원한 환아에서 진단된 NOD2 유전자 변이 크론병
박보경(Bo Kyoung Park),김현종(Hyun Jong Kim),장해인(Hae In Jang),조형민(Hyoung Min Cho),김은영(Eun Young Kim),김경심(Kyoung Sim Kim),김용욱(Yong Wook Kim),김서희(Seo-Hee Kim),김령(Young Kim) 조선대학교 의학연구원 2022 The Medical Journal of Chosun University Vol.47 No.2
We apply the term Fever of unknown origin (FUO) to children with fever >38oC of at least eight days’ duration, in whom no diagnosis is apparent after initial evaluation. Fever is a prominent component of inflammatory bowel disease (IBD), especially Crohn’s disease (CD), in many children and may be more common than abdominal symptoms. The pediatric CD rate is rapidly increasing and pediatric onset IBD represents ≥25% of all IBD diagnoses. The nucleotide-binding oligomerization domain (NOD) protein is belonging to the intracellular NOD-like receptor family. NOD2 was the first and is the most replicated locus associated with IBD. In this paper, authors report a case of CD with FUO and NOD2 mutation in a 12-year-old girl.
염색체이상을 의심한 1,180례의 염색체 분석 결과 검토
정현경,안은영,임성수,김은영,김경심,김용욱,김기복,Jeong, Hyeon Kyoung,Ahn, Eun Young,Rim, Sung Soo,Kim, Eun Young,Kim, Kyoung Sim,Kim, Yong Wook,Kim, Ki Bok 대한소아청소년과학회 2002 Clinical and Experimental Pediatrics (CEP) Vol.45 No.3
1974년 3월부터 1998년 8월까지 약 25년간 본 소아과에서 염색체 분석을 시행하였던 환아 중 염색체 이상증후군을 의심할 만한 임상증상을 가졌던 756례와 반음양, 경미한 성적 이상, 다발성 기형, 지능저하 및 성장장애 등이 있었던 424례의 결과를 종합한 총 1,180례의 결과를 비교 검토하였다. 1) 상염색체이상증후군의 남녀 비는 1.2 : 1이었다. 대상군의 연령분포는 상염색체이상군에서 1세 미만이 78.6%로 많았고, 성염색체이상군에서는 12세 이상이 89.8%로 많았다. 2) 전체 1180례 중 612례에서 염색체 이상을 보여 양성율이 51.9%였다. 그 중 상염색체이상증후군을 의심한 군의 경우는 597례 중 497례(83.2%)에서, 성염 색체이상을 의심한 군은 159례 중 93례(58.5%)에서, 기타 반음양, 경미한 성적 이상, 다발성 선천성 기형, 지능저하 및 성장장애에서는 424례 중 22례(5.2%)에서 이상소견을 보였다. 상염색체이상증후군 중 Down 증후군은 88.8%, E군 이상은 50%, D군 이상은 53.6%, 묘성 증후군은 71.4%의 양성율을 보였다. 성염색체이상증후군은 Turner 증후군은 63.3%, Klinefelter 증후군은 51.6%, Fragile X 증후군은 33.3%의 양성율을 보였다. 3) 염색체 이상의 핵형별 분포는 상염색체 이상이 514례로 83.8%, 성염색체 이상이 98례로 16.2%이었다. 성염색체 이상 중 Down 증후군이 86.8%로 가장 많았고 다음은 E군, D군, B군, A군, C군 이상 순이었다. 성염색체 이상은 Turner 증후군, Klinefelter 증후군, Fragile X 증후군이었다. 4) 가장 많았던 Down 증후군의 핵형별 빈도는 21 삼체성이 88.5%, 전좌형이 9.7%, mosaicism이 1.8%였다. 27례의 E군 이상 중 Edwards 증후군은 12례, 18p 단체성은 8례, 기타가 7례 였다. 15례의 D군 이상 중 Patau 증후군은 9례, 기타가 6례였다. 5) Turner 증후군은 57례 중 45,X가 19례로 33.3%였고 이형은 38례로 66.7%였다. Klinefelter 증후군은 32례 모두 47,XXY의 핵형이었다. Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.
김희성 ( Hee Seong Kim ),송명곤 ( Myung Gon Song ),김용욱 ( Yong Wook Kim ),김경심 ( Kyoung Sim Kim ),김은영 ( Eun Young Kim ),김령 ( Young Kim ),장해인 ( Hae In Jang ),조형민 ( Hyung Min Cho ) 대한천식알레르기학회 2017 Allergy Asthma & Respiratory Disease Vol.5 No.5
Purpose: The aim of this study was to evaluate whether or not the early use of steroid is useful for treating Mycoplasma pneumoniae pneumonia. Methods: A prospective study was conducted on 85 patients with M. pneumoniae pneumonia admitted to Gwangju Christian Hos-pital between September 2015 and April 2016. A total of 85 patients were enrolled. Of these, 33 were treated with steroids (methyl-prednisolone 1 mg/kg/day), while 52 were not; both were treated with macrolides. The overall duration of fever was compared be-tween the 2 groups and findings on chest radiographs were evaluated for their deterioration. Results: The duration of fever after admission (1.36±0.92 days vs. 2.17±1.30 days, P=0.003) and the overall duration of fever (4.42±2.13 days vs. 6.07±2.59 days, P=0.003) were significantly lower in the steroid group. The duration of fever before admission was not different between the steroid and macrolide groups (3.06±1.74 days vs. 3.90±2.21 days, P=0.068). On chest radiographs taken 3 days later, 1 of 33 patients in the steroid group and 5 of 50 patients in the macrolide group worsened, although there was no statistically significant difference between the 2 groups (P=0.395). There was no significant difference in the duration of hospi-talization between the 2 groups (6.72±1.54 days vs. 6.92±1.87 days, P=0.618). Conclusion: Early administration of steroids on patients with M. pneumoniae pneumonia reduced the duration of fever, but there was no difference in duration of admission and x-ray deterioration. (Allergy Asthma Respir Dis 2017;5:280-286)
아미노산 분유로 변경 후 병증이 호전되어 우유 단백 유발 알러지로 진단된 신생아 4예
김현종(Hyun Jong Kim),유명환(Myung Hwan Yoo),서현성(Hyun Sung Seo),장해인(Hae In Jang),조형민(Hyoung Min Cho),김은영(Eun Young Kim),김경심(Kyoung Sim Kim),김용욱(Yong Wook Kim),김령(Young Kim) 조선대학교 의학연구원 2023 The Medical Journal of Chosun University Vol.48 No.1
Cow’s milk protein allergy(CMPA) or cow’s milk protein-induced allergy is the most common food allergy in children. It has been reported to have a 2 to 3% prevalence in infants within one year of age, but the exact prevalence in newborns within one month of age has not yet been accurately reported. In children who have non-specific symptoms such as diarrhea, bloody stool, vomiting, and urticaria within a few weeks of exposure to milk protein, if the symptoms improve when changing to a diet without milk protein, a milk allergy can be diagnosed without additional tests. The extensively hydrolyzed formula is generally recommended first as a diet with milk protein eliminated, but amino acid-based formula can be considered preferentially as milk allergy may recur due to residual immunologically active proteins in the extensively hydrolyzed formula. In this report, the authors report four cases of newborns diagnosed with CMPA after changing to amino acid-based formula.
반복적인 의식변화와 운동실조를 주소로 진단된 지발형 Ornithine Transcarbamylase Deficiency 1례
정권,김은영,김경심,김용욱,유한욱,Jung, Kwon,Kim, Eun Young,Kim, Kyoung Sim,Kim, Yong Wook,Yoo, Han Wook 대한유전성대사질환학회 2003 대한유전성대사질환학회지 Vol.3 No.1
저자들은 반복적이며 간헐적인 기면, 정신착란과 운동실조를 주소로 내원한 6세 여아에서, 고암모니아혈증과 혈장 glutamine, 요 orotic acid의 증가를 보여 지발형 OTC 결핍증으로 진단하고, 분자유전학적 검사상 exon 6에서 221번째 아미노산 lysine에 해당하는 염기 AAG가 AAT(asparagine)로 치환된 돌연변이를 이형접합자(heterozygote)로 보인하였던 1례를 경험하였기에 보고하는 바이다. Ornithine transcarbamylase(OTC) deficiency is the most common of all the urea cycle disorders. In this X-linked disorder, the hemizygote males are more severely affected than heterozygote females. The Heterozygote female may have mild episodic hyperammonemia symptoms in late infancy or childhood(late onset) or no clinical manifestations. Here we report a 6 year-old girl with late onset OTC deficiency who showed recurrent episodic lethargy, mental confusion and ataxia. On mutation analysis using DNA sequencing after PCR amplification of the 10 exons of OTC gene, G to T transversion in codon 221, causing substitution of asparagine for lysine was detected in exon 6.