• 제목/요약/키워드: Developmental regression

검색결과 185건 처리시간 0.032초

Clinical and genetic characteristics of Korean patients with IARS2-related disorders

  • Lee, Jin Sook;Kim, Man Jin;Kim, Soo Yeon;Lim, Byung Chan;Kim, Ki Joong;Choi, Murim;Seong, Moon-Woo;Chae, Jong-Hee
    • Journal of Genetic Medicine
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    • 제16권2호
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    • pp.55-61
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    • 2019
  • Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

입원 아동의 낙상 위험 예측 도구 (A Pediatric Fall-Risk Assessment Tool for Hospitalized Children)

  • 신현주;김영남;김주희;손인숙;방경숙
    • Child Health Nursing Research
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    • 제20권3호
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    • pp.215-224
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    • 2014
  • 목적 본 연구는 입원 환아의 낙상위험 요인을 확인하여 낙상위험 예측도구를 개발하고 민감도와 특이도를 확인하기 위한 것이다. 방법 문헌고찰과 서울시내 1개 어린이 병원에 2006년 1월부터 2009년 8월까지 3년 8개월 동안 입원한 환아 중 낙상한 경험이 있는 환아 48명 전체와 2009년 5월 25일부터 6월 24일까지 한 달 동안 입원한 환아 중 낙상 경험이 없는 환아 149명을 비교한 자료를 바탕으로 낙상위험요인 8개를 추출하였으며, 로지스틱 회귀분석을 통해 유의한 위험요인 5개를 확인하였다. 8개 문항과 5개 문항으로 구성된 도구를 이용하여 실제 낙상을 경험한 군과 비낙상군을 비교하여 민감도, 특이도, 양성예측도, 음성예측도를 확인하였다. 결과 로지스틱 회귀분석 결과 입원 환아의 낙상 발생 위험의 유의한 예측 요인은 다음의 5가지였다. 연령은 3세 미만인 경우 3.00배, 뇌신경질환 진단이 있는 경우 2.41배, 활동 및 기능은 도움이 필요한 경우 3.18배, 신체발달은 정상인 경우에 7.09배, 위험약품 처방 수가 3개 이상인 경우 3.475배로 낙상위험이 높은 것으로 나타났다. 8개 문항의 경우 12점 이상을 고위험으로 보았을 때 민감도는 76.6%, 특이도는 30.3%였으며, 5개 문항의 경우 7점 이상을 고위험으로 보았을 때 민감도는 93.6%, 특이도는 16.2%로 나타났다. 결론 입원환아의 낙상위험예측도구로서 8개 문항과 5개 문항의 도구 모두 민감도는 높으나 특이도는 낮은 제한점을 갖고 있다. 그러나 낙상위험을 예방하기 위한 목적으로 사용됨을 감안하면 특이도는 낮지만 민감도가 높으므로 임상현장에서 사용 가능할 것으로 판단된다.

물리치료사의 요통 유병률과 관련요인 (Prevalence Rate of Low_Back Pain and Its Related Factors in Physical Therapists)

  • 정수연;신형수;박재용
    • The Journal of Korean Physical Therapy
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    • 제17권2호
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    • pp.22-37
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    • 2005
  • This study was performed to investigate LBP(low-back pain) prevalence rate and its related factors inphysical therapists. A self-administered questionnaire survey was conducted to 522 physical therapists in Daegu and Gyeongsangbuk. The LBP prevalence rate for recent 6 months was $61.7\%$. According to age, the prevalence rate was highest in the group aged 24 or less for both male and female physical therapistis. For male physical therapists , it was higher in smokers and drivers, but for female ones, it was not in a significant relationship with smoking and driving. According to work experience, the prevalence rates of those who had been working for less than one year were the highest, and those who had been working at hospitals and clinics were $69.1\%$, significantly high. According to therapy techinque, the prevalence rate related ti PNF was $71.6\%$, the highest and to occupational therapy was $34.3\%$, the lowest. According to working environment for six months, in both male and female physical therapists. LBP prevalence rate was in a statistically significant relationship with work hours during the day, night and weekend duties, repetitive works, motions that bend or twist the waist, the number of patients per day, the number of time to help patients per day, the number of time to carry medical equipment per day and the length of time to work standing. The rate was also higher when physical therapists fekt nire stress from their work. According to the result of multiple logistic regression analysis, male was in a significant relationship with work experience and motions that bend or twist the waist and female was in a significant relationship with work hours during the night and weekend duties, the number of time to help patients per day, motions that bena or twist the waist, actions taken to protect the waist. As for the developmental pattem of LBP in the group of physical therapists with LBP for six moths, $15.7\%$ of them had LBP for first time, $42.3\%$ had recurred LBP, and $42.0\%$ had chronic LBP. As for the causes of LBP, $51.7\%$ said that it was because they worked in the same posture for a long time, and as for how to treat LBP, 48.8% said that they treated themselvs or got help from their co-wokers. The results presented above suggest that physical therapists are exposed to high risk of LBP caused form occupational activities. Therefire, it is necessary to improve working environment to reduce the occurrence of LBP and to develop education programs for preventing the occurrence and recurrence of LBP.

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번식한우 사양관리(비육전후)에 따른 지방산결합단백질 4, 5(FABP4, 5) 유전자와 육질의 연관성 분석 (Association of Microsatellite Marker in FABP4,5 Gene with Marbling Score and Feeding and Management in Breed Hanwoo)

  • 김봉순;장길원;이승환;정학재;양보석;박진기;김민수;임선화;박채원;민관식;양병철
    • Reproductive and Developmental Biology
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    • 제36권3호
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    • pp.183-188
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    • 2012
  • The bovine fatty acid binding protein 4 and 5 (FABP4 and 5) is a major positional and physiological candidate gene for the bovine marbling and carcass weight. The aim of this study was to evaluate the association between economic traits of Korean cattle (Hanwoo) and genetic variation in fatty acid binding protein 4 and 5 (FABP4 and 5) genes within carcass/meat quality traits and the before/after of fatting in breed Hanwoo. Here, we characterized the nucleotide polymorphism of FABP4 and 5 in 86 cattle. We were detected the variability of three types (GG, AG, and AA) by PCR, and economic traits were analyzed by the mixed regression model implemented in the ASReml program. As the result of statistical and supersonic analysis, FABP4 gene was highly showed significant effect (p<0.006) on marbling score (MS), in contrast FABP5 gene was lowed (p<0.084) on MS before fatting. But, FABP4 gene was highly showed significant effect (p<0.0054) on MS, in contrast FABP5 gene lowest (p<0.0899) on MS in the after of fatting. Compare to supersonic result before fatting in FABP4 gene, it was detected type GG: (p<7.18), AG: (p<8.50), and AA: (p<10.50) (n=50), showed type GG: (p<4.88), AG: (p<2.33), and AA: (p<0.00) after weed out (n=20). Futhermore, it was detected type GG: (p<9.30), AG: (p<7.95), and AA: (p<7.40) (n=50) before fatting in the FABP5 gene. It was shown type GG: (p<2.67), AG: (p<3.50), and AA: (p<5.00) after weed out (n=50). Our results indicate that FABP4 and 5 gene transcription is regulated by the environment of feeding and management, and suggest that feeding and management could be potential key in determining FABP4 and 5 genes transcription for carcass/meat quality traits in breed Hanwoo.

초등학생 고학년 남아의 자기통제력, 부모의 양육행동, 부모간 갈등이 공격성에 미치는 영향 (The Effects of Self-Control, Parental Behaviors, and Marital Conflict on Boys' Aggression in Korean Upper Elementary School Students)

  • 전주람;김순옥
    • 가정과삶의질연구
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    • 제30권2호
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    • pp.101-120
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    • 2012
  • This research was conducted in order to find out the effects of boys' self-control, their parents' behaviors and marital conflict on boys' aggression. Subtypes of aggression in the present research consist of dimensions of the functions and forms (proactive-overt, proactive-relational, reactive-overt, reactive-relational). The participants of this study were 237 boys in the fifth and sixth grades in elementary schools located in Seoul and Gyeonggi province. The questionnaires were derived and modified from Lee Hong (2009) for boys' aggression, from Ju So Young and Lee Yang Hee (2008) for boys' self-control, from Jun Joo Ram (2008) and Heo Seung Yeon (2009) for maternal behaviors and from Kang Na Jung (2008) for marital conflict. In order to grasp the general characteristics of the participants, frequency and descriptive statistics were used. Also, Pearson's correlation was applied to the relationships amomg boys' self-control, marital behaviors and marital conflict on boys' aggression. Lastly, the variables that can predict boys' aggression were analyzed through multiple regression analysis by SPSS 19.0. The major results of this study were as follows. This research showed that this model fit well for boys. To summarize the important results, what is interesting in the present study is the effect of the mother's role in rearing their sons. It was found that mothers' criticism, negative behaviors, and excessive interference can cause boys' high level of aggressiveness. Also, having parents who fight frequently was strongly associated with boys' relational aggression. An interesting finding is that the mother's support influenced boys' reactive-overt aggression. Lastly, boys' self-control was highly associated with boys' proactive-relational aggression. This research may contribute to understanding boys' aggression' subtypes. To that end, the current results suggest that the dimensions of the functions and forms may be a useful tool in an effort to inform developmental theory and intervention. Also, this research may provide guidance for the resolution of problems caused by boys' aggression. Lastly, it was found that self- control training and parental education programs might prove beneficial for helping aggressive boys to overcome their aggressive impulses.

정신과 외래환자의 자가간호수행 및 가족기능과 가족 부담감의 관계 (A study on the Family Caregiver Burden for Psychiatric Out-Patients)

  • 김연희
    • 지역사회간호학회지
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    • 제5권1호
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    • pp.64-80
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    • 1994
  • The purpose of this study was to identify factors affecting family caregiver burden, and to identify the relationship between family caregiver burden and family function /self-care of psychiatric out-patient. These data were collected by questionnaire from September 20 to October 8, 1993. The subjects were 285 family caregiver of psychiatric out-patients. The instruments used in this study were Caregiver Burden Inventory(CBI) by Novak(1989), self-care performing by Yu(1992), and Family APGAR by Smilkstein(1979). The data were analyzed by cronbach's $\alpha$, mean, standard deviation, percentage, t-test, ANOVA, Pearson's correlation coefficient, and Stepwise Multiple Regression with SPSS /pc+ program. The result of this study were as follows ; 1. The means of family caregiver Burden revealed total 2.00, Time-Dependence Burden 78, developmental Burden 2.22, physical Burden 1.90, social Burden 1.43, emotional Burden 2.18, financial Burden 1.51. family caregiver burden score showed moderate level. time-dependence burden showed the highest score and social burden showed the lowest score. 2. The means of family function revealed total 5.67. 7 through high-21.4% (61), low through 3-38.6%(110). family function score showed moderate level. 3. The means of patient's self-care performance revealed total 137.71. self-care performance showed moderate level. 4. A ststistically significant correlation between family caregiver burden and patient's demographic variables, age (F=3.83, p<.01), marrital status(F=3.50, p<.01), job(F=3.17, p<.01), diagnosis(F=4.46, p<.01), income (F=4.46, p<.01). No significant differences between family caregiver burden and prevalent period, religion, sex (p>.05). S. A ststistically significant correlation between family caregiver burden and family's demographic variables, age (F=7.34, p<.01), sex(t=-2.63, p<.01), education level(F=7.61, p<.01), income (F=8.13, p<.01), relation with patient (F=6.92, p<.01), job(F=2.03, p<.05), medical service (F=3.89, p<.05), presence of chronically ill without patient(t=-2.01, p<.05) 6. Family function was the highest factor predicting family caregiver burden(R=.4168, $R^2=.1737$), low education level of family, patient's self-care, family income accounted for 36% in family caregiver burden.

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Morphometric Characteristics and Fin Dimorphism between Male and Female on the Marine Medaka, Oryzias dancena

  • Im, Jae Hyun;Gil, Hyun Woo;Lee, Tae Ho;Kong, Hee Jeong;Ahn, Cheol Min;Kim, Bong Seok;Kim, Dong Soo;Zhang, Chang Ik;Park, In-Seok
    • 한국발생생물학회지:발생과생식
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    • 제20권4호
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    • pp.331-347
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    • 2016
  • Sexual dimorphism is the most conspicuous difference between the sexes. This study examines possible sexual dimorphism and the relative growth patterns of morphometric characteristics in the marine medaka, Oryzias dancena for their potential to help differentiate between males and females of this species. The von Bertalanffy growth parameters estimated by a non-linear regression method were $L_{\infty}=30.2mm$, K=3.22/year, and ${\tau}_0=-0.05$. All 18 characteristics measured showed a difference between males and females from 70 days after hatching. Each of these characteristics were significantly different between sexes (ANCOVA, P<0.05), and the ratio of standard length between sexes showed that males were larger than females for all five morphometric measurements. Fin length measurements were taken for 21 distances of anal fin and 7 distances of dorsal fin between landmarks. There were all differences for all dorsal fin rays between the males and the females and there is significant difference in 70 days after their hatch when the sexual dimorphism is presented. The significant difference (P<0.05) in fin ray for male and female was more greatly seen as they grow. Male marine medaka showed more rapid growth than females, with longer length, dorsal fins and anal fins. Differences in these characteristics will be useful during experiments when it is necessary to differentiate between sexes of marine medaka.

가루깍지벌레(Pseudococcus comstocki (Kuwana))월동알의 온도발육 및 부화시기예찰모형 (Modeling Temperature-Dependent Development and Hatch of Overwintered Eggs of Pseudococcus comstodki (Homoptera:Pseudococcidae))

  • 전흥용;김동순;임명순;이준호
    • 한국응용곤충학회지
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    • 제35권2호
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    • pp.119-125
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    • 1996
  • 가루깍지벌레 월동안 부화시기 예찰모형을 수립하기 위하여 월동알에 대한 온도발육 실험이 수행된다. 5개온도(10, 15, 20, 25, 27$^{\circ}C$)와 채집시기별로 월동알 부화기간을조사하여 비교분석하였다. Wagner 등 (1984a)의 비선형발육모형이 온도별 평균발육률에 대하여 적용되었으며 ($R^2$=0.9729). 발육영점온도는 15~$25^{\circ}C$ 영역에서 얻은 직선회귀식에 의하여 $11.9^{\circ}C$로 추정되었으며, 발육완료를 위해서는 154.14일도가 필요하였다. 적산온도 모형과 발육률전산(Wagner 등 1985) 모형이 부화시기 예측에 이용된다. 적산온도 모형은 평균온도에서 발육영점온도 이상의 온도를 적산하는 방법(Mean-minus-base 추정법), Sine wave 추정법(Allen 1976), 그리고 Rectangle 추정법(Arnold 1960)을 잉요하여 계산하였다. 50% 부화예측일을 실측일과 비교한 결과 적산온도를 이용하는 경우 Mean-minus-base 추정법은 18~28일, Sine wave 추정법은 11~14일, 그리고 Rectangle 추정법은 3~5일의 편차를 보였고, 발육률 적산모형은 2~3일의 편차가 있었다.

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응급실 도착 전 심정지 환자의 자발순환 회복 여부에 미치는 요인 -2012~2016 의무기록 자료를 중심으로- (Factors Affecting Recovery of Spontaneous Circulation in Patients Before Cardiac Arrest in Emergency Department: 2012~2016 Focused on Medical Records Data)

  • 김석환
    • 의료법학
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    • 제19권2호
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    • pp.209-233
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    • 2018
  • 이 연구의 목적은 5년간(2012년~2016년) 응급실 도착 전 심정지 환자의 자발순환회복 여부를 파악하고, 이에 미치는 요인을 규명하기 위하여 시도하였다. 이 연구는 우리나라 전국을 대상으로 2012~2016년 '질병관리본부'에서 실시한 '급성심장정지조사 원시자료'를 주 자료로 사용하였다. 2012년부터 2016년 5년간의 국가 심장정지 조사 자료 중 심장정지 환자 136,212명을 분석 대상으로 하였다. 일반적 특성, 사회·인구학적 특성, 발생관련 특성에 따른 응급실 도착 전 자발순환 회복 여부를 파악하기 위해 교차분석을 하였고, 자발순환 회복 여부에 미치는 요인을 분석하고자 이분형 로지스틱 회귀분석을 실시하였다. 분석결과 응급실 도착 전 자발순환 회복 여부에 미치는 요인은 응급실 도착전 심폐소생술 지속 이송 여부, 응급실 도착 전 급성심장정지 목격 여부, 일반인 심폐소생술 시행 종류, 급성심장정지 발생 장소, 급성심장정지 발생 원인이었다(P<0.001, P<0.01). 그러므로, 심정지 환자의 자발순환 회복에 영향을 미치는 요인을 중심으로 체계적인 정부의 보건정책 시행과 대중적인 보건교육을 강화해야 할 것이다.

청소년의 다문화 수용성에 영향을 미치는 요인에 관한 연구: 초등학생과 중학생의 비교 (A Study on Factors Influencing on Adolescents' Multicultural Acceptability : Compared Elementary School Student and Middle School Students)

  • 은선경
    • 한국산학기술학회논문지
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    • 제17권10호
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    • pp.685-695
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    • 2016
  • 본 연구는 초등학생과 중학생의 다문화 수용성에 영향을 미치는 요인을 비교하여 차이를 파악하고 그에 따른 구체적인 실천방향을 제언하고자 한다. 본 연구는 5차 한국아동 청소년 패녈 데이터를 통해 초등학교 5학년과 중학교 2학년 학생 4,092명의 자료를 위계적 회귀분석을 통해 요인을 살펴보았다. 본 연구의 결과는 다음과 같다: 첫째, 다문화 수용성의 정도는 유의미한 차이가 있었는데, 초등학생의 다문화 수용성이 중학생보다 높았다. 둘째, 초등학생과 중학생 다문화수용성에 영향을 미치는 요인에는 차이가 나타났다. 초등학생과 중학생의 다문화 수용성에 영향을 미치는 공통요인은 어머니의 학력, 삶의 만족도, 또래관계, 교사관계, 공동체 의식으로 나타났다. 그러나 초등학생의 다문화 수용성에 영향을 미치는 요인으로 주관적 학업성적, 지역사회인식, 문화적 활동경험, 해외방문경험이 발견되었으나, 중학생의 경우에는 가족 및 단체여행경험이 다문화 수용성에 영향을 미치는 요인이었다. 이러한 연구결과는 청소년의 다문화 수용성을 증진시키기 위해 아동과 청소년의 발달단계에 따른 적절한 프로그램이 제공될 수 있어야 함을 보여주는 것이다. 즉, 중학생들에게는 공동체의식을 증진시킬 수 있도록 또래관계 증진 등의 그룹프로그램에 다문화이해 내용을 제공함으로써 다문화 수용성을 증진시킬 수 있도록 하는 것이 필요하다. 그리고 초등학생들에게는 지역사회에 대한 인식과 공동체 의식을 증진시킬 수 있는 다양한 활동중심의 비교과 프로그램, 다문화 강사 등을 통한 다문화이해교육 및 지역사회에 대한 관심을 증진시킬 수 있는 교육을 교과와 연계하여 제공하는 것이 필요하다.