• Title/Summary/Keyword: Developmental regression

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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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    • v.16 no.2
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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.

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

  • Shin, Hyeon Ju;Kim, Young Nam;Kim, Ju Hee;Son, In Sook;Bang, Kyung-Sook
    • Child Health Nursing Research
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    • v.20 no.3
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    • pp.215-224
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    • 2014
  • Purpose: This study was conducted to identify risk factors in hospitalized children, and to develop and validate a fall-risk assessment tool for hospitalized children. Methods: A retrospective chart review was performed at one university children's hospital, and an analysis was done of the characteristics of all patients who fell during a 44-month period (n=48). These patients were compared with another 149 hospitalized children who did not fall. Results: Significant predictors of falls as identified in a multivariate logistic regression analyses were age of less than 3 years old, neurological diagnosis including epilepsy, children's dependency of ADL, physical developmental delay, multiple usage of fall-risk-increasing drugs. The respective odds ratios ranged from 2.4 to 7.1 with 95% confidence interval (p<0.05). Accordingly, defining patients with either 5 risk factors as fall-prone hospitalized children provided a sensitivity of 93.6% and specificity of 16.2%. Conclusion: The results show that this tool has an acceptable level of sensitivity to assess the risk factors of fall in hospitalized children even though the specificity was low, suggesting that this tool may enable nurses to predict the risk level of childhood falls, and develop preventive strategies against pediatric falls in children's units.

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

  • Jung Soo-yeoun;Shin Hyung-soo;Park Jae-yong
    • The Journal of Korean Physical Therapy
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    • v.17 no.2
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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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Association of Microsatellite Marker in FABP4,5 Gene with Marbling Score and Feeding and Management in Breed Hanwoo (번식한우 사양관리(비육전후)에 따른 지방산결합단백질 4, 5(FABP4, 5) 유전자와 육질의 연관성 분석)

  • Kim, Bong-Sun;Chang, Kil-Won;Lee, Seung-Hwan;Chung, Hak-Jae;Yang, Bo-Suk;Park, Jin-Ki;Kim, Min-Su;Lim, Seon-Hwa;Park, Chae-Won;Min, Kwan-Sik;Yang, Byoung-Chul
    • Reproductive and Developmental Biology
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    • v.36 no.3
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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.

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

  • Jun, Joo-Ram;Kim, Soon-Ok
    • Journal of Families and Better Life
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    • v.30 no.2
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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.

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

  • Kim, Yeon-Hee
    • Research in Community and Public Health Nursing
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    • v.5 no.1
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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
    • Development and Reproduction
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    • v.20 no.4
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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.

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

  • Jeon, Heung-Yong;Kim, Dong-Soon;Yiem, Myoung-Soon;Lee, Joon-Ho
    • Korean journal of applied entomology
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    • v.35 no.2
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    • pp.119-125
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    • 1996
  • Temperature-dependent development study for overwintered eggs of Pseudococcus comstocki (Kuwana) wasconducted to develop a forecasting model for egg hatch date. Hatch times of overwintered eggs were comparedat five constant temperatures (10, 15, 20, 25, 27$^{\circ}$C) and different collection dates. A nonlinear, four-parameterdevelopmental model with high temperature inhibition accurately described (R2=0.9948) mean developmentalrates of all temperatures. Variation in developmental times was modeled(~~=0.972w9)it h a cumulative Weibullfunction. Least-squares linear regression (rate=O.O06358[Temp.]-0.07566)d escribed development in the linearregion (15-25$^{\circ}$C) of the development curve. The low development threshold temperature was estimated 11.9"Cand 154.14 degree-days were required for complete development. The linear degree-day model (thermal summation)and rate summation model (Wagner et al. 1985) were validated using field phenology data. In degreedaymodels, mean-minus-base method, sine wave method, and rectangle method were used in estimation of dailythermal units. Mean-minus-base method was 18 to 28d late, sine wave method was 11 to 14d late, rectanglemethod was 3 to 5d late, and rate summation model was 2 to 3d late in predicting 50% hatch of overwinteredeggs. hatch of overwintered eggs.

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

  • Kim, Seok-hwan
    • The Korean Society of Law and Medicine
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    • v.19 no.2
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    • pp.209-233
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    • 2018
  • The purpose of this study was to ascertain whether or not to recover the spontaneous circulation of patients with cardiac arrest before arrival in the emergency room for 5 years (2012 to 2016), and try to investigate the factors affecting this. In this research, we used the "raw material for acute cardiac arrest survey" conducted in "Disease management headquarters" from 2012 to 2016 for the whole country of our country as the main material. In this study, 136,212 cardiac arrest patients were analyzed in the study data of the cardiac arrest in the country during the 5 years from 2012 to 2016. We performed a Chi-square analysis to analyze the recovery of spontaneous circulation before arrival in the emergency room according to general characteristics, social·demographic characteristics, and developmental characteristics. and We performed a Binary logistic regression analysis to determine the factors affecting the recovery of spontaneous circulation. The analysis results of this study show that whether CPR sustained transport before endoplasmic reticulum arrival, whether to witness an acute cardiac arrest before arrival in the emergency room, the type of general cardiopulmonary resuscitation, the location of acute cardiac arrest, the acute heart Causes of stoppage cause factor of whether spontaneous circulation recovery recovers before arrival of the endoplasmic reticulum(P<0.001, P<0.01). Therefore, it is necessary to strengthen systematic government health policy implementation and dissemination and health education focusing on factors that affect recovery of spontaneous circulation of cardiac arrest patients.

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

  • Un, Sun Kyoung
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.17 no.10
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    • pp.685-695
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    • 2016
  • This study suggests different improvement practices of adolescents' multicultural acceptability to compare the factors influencing multicultural acceptability with elementary and middle school students. The data used in this study come from the Korean Child and Youth Panel Study(KCYPS) of the National Youth Policy Institute(NYPI) comprising 4,092 responses from 5th grade elementary school students and 4th grade(middle school 2nd grade) of elementary school students. The study data were subjected to hierarchical regression analysis to give the following findings. First, Levels of Multicultural Acceptability were significantly different. Second, factors influencing multicultural acceptability for elementary school students and middle school students were different. Common factors were mother's education level, life's satisfaction, peer relationship, teacher relationship, and spirit of community. Factors for elementary school students's multicultural acceptability were subjective academic achievement, community awareness, experiences of cultural activity, and overseas visiting experiences. The factor for middle school students's multicultural acceptability was family/group travel experiences. Our findings highlight the importance of programs and education that are suitable for children's developmental level. Such peer group programs need to be offered for middle school students to achieve spirit of community and educational group program and various extracurricular activities to achieve community awareness and develop a spirit of community for elementary school students.