• 제목/요약/키워드: early intervention

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Clinical features of Senior-Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man

  • Chiu, Harold Henrison C.;Sucaldito, Ma. Sergia Fatima P.;Maceda, Ebner Bon G.;Montemayor, Jan Andre S.;Tamondong-Lachica, Diana R.
    • Journal of Genetic Medicine
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    • 제17권1호
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    • pp.39-42
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    • 2020
  • The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

일부 건강검진 수검자들의 관상동맥질환 위험인자의 군집별 유병률 (Prevalence of Clustering of Coronary Risk Factors in Health Checkup Examinees)

  • 김은숙;김광환;조영채
    • 한국산학기술학회논문지
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    • 제10권3호
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    • pp.625-633
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    • 2009
  • 본 연구는 건강검진 수검자들에 대한 관상동맥질환 위험인자의 유병률을 파악하고자 대전광역시에 있는 C 대학교병원 건강검진센터에서 종합건강검진을 받았던 30세 이상의 일반성인 3,345명을 연구대상으로 하였다. 연구결과, 관상동맥질환 위험인자의 군집별 유병률을 보면, 위험인자를 1개 갖고 있는 사람이 27.6%, 2개 갖고 있는 사람이 26.5%, 3개 갖고 있는 사람이 16.9%등의 순이었으며, 적어도 1개 이상 관상동맥질환 위험인자를 갖고 있는 사람이 80.0%나 되는 것으로 나타났다. 따라서 관상동맥질환 발생 위험을 줄이기 위한 위험인자의 군집별 위험군에 근거한 차별화 된 건강증진프로그램의 개발과 보급이 필요하다고 본다.

Surgical Roles for Spinal Involvement of Hematological Malignancies

  • Kim, Sang-Il;Kim, Young-Hoon;Ha, Kee-Yong;Lee, Jae-Won;Lee, Jin-Woo
    • Journal of Korean Neurosurgical Society
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    • 제60권5호
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    • pp.534-539
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    • 2017
  • Objective : Patients with hematological malignancies frequently encounter spine-related symptoms, which are caused by disease itself or process of treatment. However, there is still lack of knowledge on their epidemiology and clinical courses. The purpose of this article is to review clinical presentations and surgical results for spinal involvement of hematologic malignancies. Methods : From January 2011 to September 2014, 195 patients (98 males and 97 females) suffering from hematological malignancies combined with spinal problems were retrospectively analyzed for clinical and radiological characteristics and their clinical results. Results : The most common diagnosis of hematological malignancy was multiple myeloma (96 patients, 49.7%), followed by chronic myeloid leukemia (30, 15.2%), acute myeloid leukemia (22, 11.2%), and lymphoma (15, 7.56%). The major presenting symptoms were mechanical axial pain (132, 67.7%) resulting from pathologic fractures, and followed by radiating pain (49, 25.1%). Progressive neurologic deficits were noted in 15 patients (7.7%), which revealed as cord compression by epidural mass or compressive myelopathy combined with pathologic fractures. Reconstructive surgery for neurologic compromise was done in 16 patients. Even though surgical intervention was useful for early paralysis (Frankel grade D or E), neurologic recovery was not satisfactory for the progressed paralysis (Frankel grade A or B). Conclusion : Hematological malignancies may cause various spinal problems related to disease progression or consequences of treatments. Conservative and palliative treatments are mainstay for these lesions. However, timely surgical interventions should be considered for the cases of pathologic fractures with progressive neurologic compromise.

일부지역 여성의 스트레스성 요실금 경험에 대한 조사연구 (A Survey Study on Urinary incontinence of Adult Women)

  • 김애경
    • 기본간호학회지
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    • 제5권2호
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    • pp.257-268
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    • 1998
  • The purpose of this study were to identify the characteristics of urinary incontinence in adult women and to identify it's relating factors, daily living and sexual problem related urinary incontinence. Subjects were 60 community dwelling women in the age of 25-60 years old at 1 cities in Korea. The data were collected from January 1988 to May. 1998. Subject were interviewed with structured questionnaire. Questionaire was composed of item of general characteristics, obstetrical characteristics, measuring tool of severity of urinary incontinence, discomfort due to urinary incontinence. The data were analyzed with SAS program, descriptive statistics, T-test, ANOVA test. The results of study were as followings. 1) Most of incontinence women were mildly incontinent subjects(mean=7.40). 2) The common activity related to the urinary incontinence were coughing, sneezing, laughing aloudly exercising. 63.5% of women reported small volume accidents of only 1 to 2 drops. 3) The incidence of urinary incontinence was significantly higher in woman who had more pariety and older age of last delivery, menopause, itching sense of vagina. 4) 73.3% of the episodic urinary incontinence were not treated because the felt that urinary incontinence was not disease(70.4%) was shamful(18.1%), was incurable inspite of treatement attempt(4.5%). 5) Daily living problem related to urinary incontinence were as follows : Voiding before going out(66.6%), odor of urine(10.0), frequent underwear change.(88.3%). 6) Sexual intercourse problem related to urinary incontinence were as follows : Pain during sexual intercourse(30.0%), sexual life trouble,(8.3%), urine leakage.(11.7%) The results indicate that urinary incontinence is common in adult women. Health care provider should develop and provide adequate nursing intervention for prevention and early treatment of urinary incontinence.

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고연령 미혼여성의 건강검진에 영향을 미치는 요인 (Factors Influencing the Health Examination in Unmarried Women)

  • 하주영;윤지향;이영숙;이현정
    • 여성건강간호학회지
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    • 제20권1호
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    • pp.92-104
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    • 2014
  • Purpose: This study was to investigate factors that influence health examination for unmarried women. Methods: A correlation study was carried out with 144 unmarried women with an age range of 35~49 years through selfadministered questionnaires. This questionnaire included Health Belief Model modifying factors (demographic.sociological, structural, and cues to action variables). Data were analyzed using descriptive statistics, $x^2$-test, multiple logistic regression. Results: The mean age of participants was $37.2{\pm}2.67$ years. Rates for breast cancer, cervical cancer and comprehensive health examination were each 34.7%, 38.2% and 94%. In multiple logistic regression analysis, influencing factors on physical examination were age(OR=0.06, 95% CI: 0.02~0.26), personal medical insurance (OR=6.30, 95% CI: 1.60~24.82), housemate (OR=7.63, 95% CI: 2.58~22.52), exercise (OR=3.72, 95% CI: 1.37~10.12) in breast cancer examination, and age (OR=0.08, 95% CI: 0.02~0.34; OR=0.07, 95% CI: 0.01~0.85), personal medical insurance (OR=14.17, 95% CI: 2.94~68.23), sexual experiences (OR=3.38, 95% CI: 1.28~8.91), drinking (OR=2.92, 95% CI: 1.14~7.49) in cervical cancer examination. Conclusion: The results emphasize the necessity of preparing nursing education and intervention in consideration of associated factors which influence on the health examination in unmarried women.

소아 신장 동맥 폐색에서의 풍선 혈관성형술 (Balloon Angioplasty in a Pediatric Renal Artery Occlusion)

  • 송화영;정혜두;김정은;이상민;홍원주;이관섭
    • 대한영상의학회지
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    • 제79권6호
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    • pp.332-336
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    • 2018
  • 신장 동맥 손상은 둔상의 드문 합병증이나, 신장의 혈류 차단을 일으켜 신부전증을 일으킬 수도 있어 조기 진단과 치료가 필요하다. 신장 동맥 손상의 치료 방법은 아직 논란이 남아 있기는 하지만, 최근 연구들에서 혈관 내 스텐트를 이용한 성공적인 치료 결과가 보고 되었다. 그러나 아직 소아 환자에 대해서는 표준 치료법이 정해지지 않았다. 우리는 16세 여자 환아에서 발생한 4등급 간 열상과 동반된 우측 신장 동맥 폐색 증례를 보고하고자 한다. 환아는 풍선 혈관형성술만을 이용한 치료를 시행 받았고, 후에 신장의 실질 혈류 관류가 뚜렷하게 개선되었으며 신기능이 정상화 되었다. 따라서 소아 환자에서 신장 동맥 손상이 발생했을 경우, 풍선 혈관형성술을 이용한 시술이 치료의 한가지 방법이 될 수 있다.

학령기 아동의 게임 사용시간 변화궤적 분석 : 잠재계층성장분석(LCGM)을 활용하여 (Longitudinal Trajectories of Computer Game Use among School Age Children: Using Latent Class Growth Model)

  • 김동하
    • 사회복지연구
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    • 제48권2호
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    • pp.303-329
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    • 2017
  • 본 연구에서는 아동발달의 변화성과 다양성을 고려하여 시간의 경과에 따라 학령기 아동의 게임 사용시간의 변화궤적을 유형화하고, 각 유형에 영향을 미치는 예측요인을 다차원적으로 검증하였다. 이를 위해 한국아동 청소년패널조사의 초1패널의 2차년도에서 6차년도까지의 자료를 활용하였으며, 본 연구의 최종 분석대상자는 총 1959명이다. 분석방법으로는 학령기 아동의 게임 사용시간 변화궤적 유형화를 위해서 잠재계층성장분석을 실시하였으며, 이후 다중로지스틱 회귀분석을 통해 유의미한 예측요인을 검증하였다. 분석결과, 학령기 아동의 게임 사용시간 변화궤적은 '게임 저사용 증가집단', '게임 초기 고사용-변동 집단', '게임 고사용 증가집단'으로 분류되었으며, 성별, 공격성, 주의집중, 방과후 보호자 부재, 주양육자의 교육수준, 형제자매, 방임, 가구소득, 연간 가족여행 횟수, 학교성적, 또래관계가 각 유형의 분류에 유의미한 영향을 미치는 예측변인으로 나타났다. 이러한 연구결과들을 바탕으로 학령기 초기 아동의 게임 과다사용에 대한 예방적 개입의 필요성을 강조하고 유용한 실천적 제언을 하였다.

대학생 집단에서 사회적 지지와 대사증후군 예방 건강 행동 간의 상관관계: 지각된 스트레스의 매개효과 (The Association between Social Support and Health Behaviors for Metabolic Syndrome Prevention among University Students: The Mediating Effect of Perceived Stress)

  • 박수연;조수아;이유진;최성철;추진아
    • 지역사회간호학회지
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    • 제32권3호
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    • pp.404-414
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    • 2021
  • Purpose: Health behaviors for metabolic syndrome (MetS) prevention should be emphasized from early adulthood. There is little information on psychosocial factors associated with health behaviors for MetS prevention. The aim of this study was to determine whether there would be a mediating effect of perceived stress on the association between social support and health behaviors for MetS prevention among university students. Methods: This cross-sectional and correlation study was conducted with 502 university students in South Korea. Social support, perceived stress, and lifestyle evaluation for metabolic syndrome scales were used. Online questionnaire survey was conducted between November and December 2019. The mediating effect of social support on health behaviors for MetS prevention was analyzed using PROCESS macro program with bootstrapping method to test our hypotheses. Results: Social support directly influenced perceived stress (β=-.35, p<.001) and health behaviors for MetS prevention (β=.14, p=.002). Health behaviors for MetS prevention was indirectly influenced by perceived stress (β=-.25, p<.001). The size of indirect effect of social support on health behaviors for MetS prevention was 0.06. Conclusions: The association of social support and health behaviors for MetS prevention was partially mediated by perceived stress among university students. Therefore, a university-based nursing intervention should comprise social support strategies with stress management to promote health behaviors for MetS prevention.

Recurrent Aortobronchial Fistula after Endovascular Stenting for Infected Pseudoaneurysm of the Proximal Descending Thoracic Aorta: Case Report

  • Lee, Sun-Geun;Lee, Seung Hyong;Park, Won Kyoun;Kim, Dae Hyun;Song, Jae Won;Cho, Sang-Ho
    • Journal of Chest Surgery
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    • 제54권5호
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    • pp.425-428
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    • 2021
  • Aortobronchial fistula (ABF) induced by an infected pseudoaneurysm of the thoracic aorta is a life-threatening condition. As surgical treatment is associated with significant mortality and morbidity, thoracic endovascular aneurysm repair (TEVAR) may be an alternative for the treatment of ABF. However, the long-term durability of this intervention is largely unknown and the recurrence of ABF is a potential complication. We experienced a case of recurrent ABF after stent grafting as an early procedure for an infected pseudoaneurysm of the thoracic aorta. Remnant ABF, bronchial and/or aortic wall erosion, vasa vasorum connected with ABF, and recurrent local inflammation of the thin aortic wall around ABF might cause recurrent hemoptysis. As a result, we suggest that TEVAR should be considered as a bridge therapy for the initial treatment of ABF resulting from an infected pseudoaneurysm, and that several options, such as second-stage surgery, should be considered to prevent the recurrence of ABF.

다문화가정 구성원 대상 교육프로그램 중재에 대한 체계적 고찰 (Systematic Review of Educational Programs for Multicultural Families in South Korea)

  • 이상헌;박경민;손순영
    • 디지털융복합연구
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    • 제19권4호
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    • pp.457-466
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    • 2021
  • 본 연구는 다문화가정 구성원을 대상으로 한 교육프로그램의 효과를 확인하는 체계적고찰 연구이다. 연구 방법은 국내 데이터베이스인 KISS, RISS, NDSL, DBia, nanet을 사용하여 출판된 문헌을 2020년 12월 1일부터 2021년 1월 7일까지 검색 후 총 21편의 연구를 분석하여 연구자 3인이 코드화한 후 정리하였다. 다문화가정을 대상으로 한 교육프로그램 중재의 특성은 자녀 대상 연구가 12편 부모 대상 연구가 8편 부모와 자녀를 모두 포함한 연구가 1편이었다. 중재프로그램의 속성에서 대다수의 연구가 건강, 반응적 돌봄, 조기교육을 포함하고 있었지만 영양과 안전 영역을 적용한 연구는 없는 것으로 나타났으며 다문화가정 구성원 모두를 대상으로 한 연구도 없는 것으로 나타났다. 본 연구를 통해 다문화가정 구성원 대상 교육프로그램 개발시 교육 요구도를 파악하고 이론적 기틀을 토대로 다문화가정이 겪는 문제를 포괄 할 수 있는 교육 프로그램 개발과 효과검증이 필요함을 알 수 있었다.