• Title/Summary/Keyword: Single-child

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Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy

  • Zavarzadeh, Parisima Ghaffarian;Bonyadi, Morteza;Abedi, Zahra
    • Genomics & Informatics
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    • v.20 no.3
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    • pp.28.1-28.7
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    • 2022
  • We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

A Phenomenological Study on the Cravings of Alcoholics (알코올중독자가 경험하는 갈망에 관한 현상학적 연구)

  • Keun Young, Yang;Hyang Sook, Kang
    • The Journal of Korean Society for School & Community Health Education
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    • v.23 no.4
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    • pp.63-79
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    • 2022
  • Objectives: The purpose of this study is to reveal the phenomenological meaning and experience of alcohol craving experienced by alcoholics through qualitative research. Methods: From November 8, 2020 to October 10, 2022, in-depth interviews were conducted with four recovering alcoholics within two years of a single week who were diagnosed with alcoholism in the past and had been hospitalized for alcoholism problems. The data were analyzed using phenomenological qualitative research methods. Results: The alcohol craving experienced by alcoholics worked in connection with the life of alcoholics. Alcohol intensity was not entirely determined by external factors, but varied by the individual's internal state and circumstances surrounding the individual, and cravings were found to be classified into when control and intervention were possible. Also, the power to neutralize alcohol cravings was a warm 'self-compassion' mind. Conclusion: This study presented a new perspective on alcohol craving, and based on this perspective, the necessity of developing an alcohol addiction prevention program and a recurrence prevention program was presented. In addition, the basis for emphasizing the necessity of complete abstinence in health education services for preventing alcohol and preventing recurrence in the community was presented.

The clinical success of ART restorations and Hall technique in primary molars: a randomized 18-month follow-up study

  • Esra Oz;Zuhal Kirzioglu;Canan Kale
    • Restorative Dentistry and Endodontics
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    • v.48 no.2
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    • pp.19.1-19.12
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    • 2023
  • Objectives: The aim of the study was to evaluate the clinical and radiographic success of the Hall technique (HT) and atraumatic restorative treatment (ART) restorations using high-viscosity glass-ionomer cement for the management of occlusal carious lesions in primary molars. Materials and Methods: This randomized clinical study observed 40 children (aged 5-6 years). For each child, one tooth was treated with HT and one with ART. The primary outcome measures for HT restorations were successful, minor, and major failure rates. Clinical evaluations of ART restorations were performed according to the modified United States Public Health Service criteria during 18-month follow-up. McNemar test was used for statistical analysis. Results: Thirty of 40 (75%) participants returned for 18 months of follow-up. In the clinical evaluations of teeth that were treated with HT, the patients did not have complaints of pain or other symptoms, all crowns remained in the oral cavity, the gums were healthy, and the teeth were functional in all evaluations. At the end of the 18-month follow-up, the surface texture and marginal integrity criteria of ART restorations were recorded as 26.7% and 33.3%, respectively. In the radiographic evaluation of 30 patients treated with ART and HT, all restorations were considered successful. Conclusions: The 18-month clinical and radiographic results after treatments applied to single-surface cavities in anxious children showed that both treatment methods were successful.

Reconstruction of the Experience of Single Mothers in Poverty -The Meaning of Self-Sufficiency, Welfare Dependency, and Work- (빈곤 여성 한부모 자활 경험의 재구성 -자활, 복지의존, 일의 의미-)

  • Chong, Hye-Suk
    • Korean Journal of Social Welfare
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    • v.67 no.4
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    • pp.251-277
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    • 2015
  • This qualitative study is designed for the reconstruction of the experience of single mothers in poverty based on the bottom-up approach. Welfare dependency is identified as vital help to protect their own and children's lives, through their stories telling that welfare services provided by government and community take care of them "in place of their husbands", and "raise them up by hand." What is self-sufficiency to them is more of a process-orientation through welfare dependency than a state out of it, and a way to look through building their self-esteem and working to discover their self-worth except their economic power. Restoring their potential to self-sufficiency through dealing with their psycho-social stresses and expanding services for them related to child-care(education) and occupation ability development for long-term self-sufficiency, rather than hasty focusing on welfare exit, should be built on the foundation of helping them self-sufficient. In order for the self-sufficiency program to overcome the participant's images of "subordination and stigma" and to convey the original meaning of "welfare to work", the performance and evaluation system of self-sufficiency programs that reflects the insider's perspectives on their participation motive and process, and the self-sufficiency program customized for their needs and interests should be encouraged to develop.

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Impact of Psychological and Behavioral Variables of Parents from Low Income Families upon Children's Problematic Behaviors : Comparison between Two-parent Families and Single-parent Families (저소득 가정 부모의 심리적·행동적 특성이 자녀의 문제행동에 미치는 영향: 양부모 가정과 한부모 가정의 비교)

  • Bang, So Young;Choi, Sun Hee;Lee, Soo Hyun;Hwang, Hye Jung
    • Korean Journal of Childcare and Education
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    • v.9 no.5
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    • pp.157-179
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    • 2013
  • The purpose of this study was to examine psychological and behavioral characteristics of parents from low income families and to figure out the influence of these parents' characteristics upon children's problematic behaviors by comparing two-parent families and single-parent families. The subjects in this study were 193 parents who participated in a dream- start program geared toward low-income families. Their psychological and behavioral characteristics were tested, and their children's problem behaviors were investigated. As a result, the children from intact families in the low-income classes showed more problem behaviors when their parents faced heavier parental stress, and they showed less problem behaviors when their parents were more satisfied with their relationship with them. In contrast, the children from single-parent families in the low-income brackets showed less problem behaviors when their parents had better dietary habits and were more satisfied with their daily routine life, and they showed more problem behaviors when their parents were under heavier parental stress. The findings of the study seem to suggest that the development of parental and parent education programs is required to relieve the problem behaviors of children from the low-income classes and improve the parental behavior of their parents, and that a wide variety of assistance should be provided in consideration of the current marital status of parents as well.

Orthodontic treatment of an ankylosed tooth; application of single tooth osteotomy and alveolar bone distraction osteogenesis (유착치의 교정치료; 골절단술과 치조골 신장술의 적용)

  • Kim, Yong-Il;Kim, Seong-Sik;Son, Woo-Sung;Park, Soo-Byung
    • The korean journal of orthodontics
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    • v.39 no.3
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    • pp.185-198
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    • 2009
  • Tooth anklylosis is defined as the adhesion state of alveolar bone to dentin or cementum. Trauma, disturbed metabolic disease, and congenital disease have been given as etiologic factors. Complications of tooth ankylosis are tipping of the neighboring teeth, space loss, and supraeruption of the opposing teeth. Particularly if dental ankylosis occurs in maxillary incisors of a growing child, the ankylosed tooth can not move vertically with subsequent disturbance in vertical growth of the alveolar process. With an appropriate treatment approach, an esthetic condition must be achieved especially in the maxillary anterior region. In this report, two cases are presented which were treated by the surgical repositioning method. One is treated by alveolar bone distraction osteogenesis which used a tooth-borne type distraction device and the other by single tooth osteotomy.

The effect of family relationships on local community participation by elderly single-person households: Focusing on gender differences (단독가구 노인의 가족관계가 지역사회참여에 미치는 영향: 성별차이를 중심으로)

  • Yeom, Jihye;Chun, Miae
    • 한국노년학
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    • v.40 no.2
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    • pp.239-255
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    • 2020
  • The purpose of this study is to examine whether family relationships of elderly single-person households affect community participation and whether these relationships differ by gender. Based on Baltes and Baltes (1990) 's selection, optimization, and compensation theory (SOC) and the argument that family members are a social capital by Prandini (2014), we test whether family relationships can affect community participation in old age. In order to verify this, single-person households were extracted from the 2017 National Survey of Living Conditions and Welfare Needs conducted by the Korea Institute for Health and Social Affairs (Male sample=370, Female sample=1770), multiple regression analysis were conducted with the dependent variables of friends·neighbors and the participation at Kyungrodang·welfare centers for the elderly. The results are as follows. In the case of men, family relations showed no significant effect on their participation in friends·neighbors, or Kyungrodang·welfare centers. However, in the case of women, the frequency of contact with family had a positive effect on the frequency of meeting friends·neighbors. Family contact frequency and child relationship satisfaction had a positive (+) effect on Kyungrodang·welfare center participation, while family meeting frequency had a negative effect on participation in Kyungrodang·welfare centers. For women, although Prandini's (2014) claim that family members are a social capital seems to be supported, it was found that the impact could vary depending on the type of community participation. In addition, practical discussions and suggestions were presented.

Time and Motion Study of Community Health Practitioners and Community Health Aids in Ocku Area (보건진료원 및 보건진료보조원의 근무시간활용에 대한 조사연구)

  • 황인담;기노석
    • Korea journal of population studies
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    • v.3 no.1
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    • pp.42-51
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    • 1979
  • A study on analysis of daily activities and time allocations of Community health Practitioners(CHP) and Community Health Aids(CHA) who assigned to Ocku Demonstration Health Project of the Korean Health Development Institute was conducted for one week from 3rd through 8th December 1979. The purpose of this study was to determine the efficacy including productivity of the community Health Workers developed by KHDI for rural areas. Five Community Health Practitioners and eight Community Health Aids were selected for the studies and their activities and time allocations were measured by designed format for one week. The following are the summary of the findings. 1. The mean age of the CHPs was 34.4 years with standard deviation 4.8 years, while that of CHAs was 26.9 years with standard deviation 3.1 years. 2. On educational background, all of the CHPs were graduated from Junior Nursing College, six CHAs were from high school and the rest of them from middle school. 3. On marital status, all CHPs were married, meanwhile four CHAs were married and the rest of them were single. 4. On service duration in public health fields, all of the CHPs have worked for less than three years, meanwhile five CHAs for 5 to 9 years and one CHA for more than 10 years. 5. Only one CHP lives in the myon where she works, and the rest of them live in other areas. Three CHAs live in the same myon where they work, and five live in other areas. 6. On types of work, the CHPs have worked on technical areas for 3.6 hours per day and on supportive and administrative activities for 2.7 hours and other activities for 1.8 hours on average. 7. The CHAs have spent 2.9 hours a day on technical activities, 4.2 hours on supportive and administrative activities and 1.6 hours on other activities in terms of time spent on average. 8. The average hours per day spent by CHPs on functional areas were 2.2 hours for clinic activities, 13.7 minutes for maternal health, 30.1 minutes for infant and child health, 13.4 minutes for family planning, 1.1 hours for supporting activities and 1.7 hours for administrative affairs. 9. The average hours per day spent by CHAs on functional areas were 4.1 hours for administrative affairs, 2.6 hours for supportive activities and only 2.9 for maternal health, infant and child health an family planning, and other technical works. 10. The average time spent by CHPs on clinical works were 1.0 minutes for history takings on disease, 2.6 minutes for physical examinations, 1.1 minutes for measurements, 3.8 minutes for administration of medications, 1.5 minutes for educations and 0.9 minutes for others. 11. On the average 92.8 percent of whole working hours of CHPs were spent in the substations, meanwhile 70.4 percent of CHAs were spent in the substations. 12. 17.8 percent of field working hours of CHAs were spent on the roal for their transportations. 13. The average time for unit service performance by CHPs were 10.9 minutes on clinical case, 18.1 minutes on maternal health, 14.8 minutes on infant and child health, 20.5 minutes on family planning and 29.9 minutes on tuberculosis control. 14. The average time for unit service performance by CHAs were 19.4 minutes on clinical work, 19.9 minutes on maternal health, 20.1 minutes on infant and child health, 17.2 minutes on family planning, 22.2 minutes on tuberculosis control.

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Prospective Multi-Center Korean Registry of Transcatheter Arterial Chemoembolization with Drug-Eluting Embolics for Nodular Hepatocellular Carcinoma: A Two-Year Outcome Analysis

  • Myungsu Lee;Jin Wook Chung;Kwang-Hun Lee;Jong Yun Won;Ho Jong Chun;Han Chu Lee;Jin Hyoung Kim;In Joon Lee;Saebeom Hur;Hyo-Cheol Kim;Yoon Jun Kim;Gyoung Min Kim;Seung-Moon Joo;Jung Suk Oh
    • Korean Journal of Radiology
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    • v.22 no.10
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    • pp.1658-1670
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    • 2021
  • Objective: To assess the two-year treatment outcomes of chemoembolization with drug-eluting embolics (DEE) for nodular hepatocellular carcinoma (HCC). Materials and Methods: This study was a prospective, multicenter, registry-based, single-arm trial conducted at five university hospitals in Korea. Patients were recruited between May 2011 and April 2013, with a target population of 200. A DC Bead loaded with doxorubicin was used as the DEE agent. Patients were followed up for two years. Per-patient and per-lesion tumor response analysis, per-patient overall survival (OS) and progression-free survival (PFS) analysis, and per-lesion tumor control analysis were performed. Results: The final study population included 152 patients, with 207 target lesions for the per-lesion analysis. At one-month, six-month, one-year, and two-year per-patient assessments, complete response (CR) rates were 40.1%, 43.0%, 33.3%, and 19.6%, respectively. The objective response (OR) rates were 91.4%, 55.4%, 35.1%, and 19.6%, respectively. The cumulative two-year OS rate was 79.7%. The cumulative two-year PFS rate was 22.4% and the median survival was 9.3 months. In multivariable analysis, the Child-Pugh score (p = 0.019) was an independent predictor of OS, and tumor multiplicity (p < 0.001), tumor size (p = 0.020), and Child-Pugh score (p = 0.006) were independent predictors of PFS. In per-lesion analysis, one-month, six-month, one-year and two-year CR rates were 57.5%, 58.5%, 45.2%, and 33.3%, respectively, and the OR rates were 84.1%, 65.2%, 46.6%, and 33.3%, respectively. The cumulative two-year per-lesion tumor control rate was 36.2%, and the median time was 14.1 months. The Child-Pugh score (p < 0.001) was the only independent predictor of tumor control. Serious adverse events were reported in 11 patients (7.2%). Conclusion: DEE chemoembolization for nodular HCCs in the Korean population showed acceptable survival, tumor response, and safety profiles after a two-year follow-up. Good liver function (Child-Pugh score A5) was a key predictor of per-patient OS, PFS, and per-lesion tumor control.

The Comorbidity of Attention Deficit Hyperactivity Disorder and the Effect of Methylphenidate on it (주의력 결핍 과잉 운동 장애 환자들의 약물치료 효과 및 Comorbidity에 관한 연구)

  • Lee, Jong-Bum;Park, Hyung-Bae
    • Journal of Yeungnam Medical Science
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    • v.10 no.1
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    • pp.166-178
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    • 1993
  • The objectives of this study were to evaluate the effect of methylphenidate on attention deficit hyperactivity disorder (ADHD) and the comorbidity of the disorder, using child attention problem checklist to 56 (male: 38, female: 18) patients from, March 992 to February 1993. The results were as follows: Among 56 subjects, ADHD alone were 20 (335.71%) subjects, and with one additional diagnosis were 31 (55.35%) subjects and with two additional diagnosis were 5 (8.93%) subjects. There was significant improvement on symptoms in the scores rated by teachers in 7th and 28th day after menthlphenidate administration compared to baseline score (P<0.05) and 28th day score showed significant improvement compared to 7th day score (P<0.05) and 28th day score showed significant improvement compared to 7th day score (P<0.05). There was significant improvement on symptoms in the scores rated by parents in 28th day after methylphenidate administration improvement compared with 7th day score. In single administration of methylphenidate in Sunday morning score compared to afternoon score (P<0.05). In the administration of significant improvement on symptoms compared with the Sunday morning rating score of parents (P<0.05) and the 28th day comparison was also showed significant improvement on symptoms in the scores rated by teachers compared with the scores rated by parents on symptoms (P<0.05). Among group comparison, all groups showed significant improvements (P<0.05) except conduct disorder & oppositional defiant group.

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