• 제목/요약/키워드: Patient family

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당원 축적병 9D (GSD9D) 환자의 신규 PHKA1 돌연변이 (A Novel PHKA1 Mutation in a Patient with Glycogen Storage Disease Type IXD)

  • 김혜진;남수현;김상범;정기화;최병옥
    • 생명과학회지
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    • 제30권8호
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    • pp.672-679
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    • 2020
  • 원위 근병증은 원위 근육의 퇴행성 질환이며 임상적, 유전적으로 이질적인 그룹이다. 당원 축적병 9D (GSD9D)는 원위 근병증 중 하나이며, 근육의 포스포릴라아제키나아제(phosphorylase kinase) 결핍을 특징으로 하는 대사 근병증이다. GSD9D 환자는 운동 후 근육 약화, 근육 변성, 경련과 비정상적인 근육통 및 근육 경직이 발생될 수 있다. GSD9D는 글리코겐 대사의 주요 조절 효소 인 근육 포스포릴라아제키나아제의 알파 소단위를 암호화하는 PHKA1 유전자의 돌연변이로 유발된다. 이 연구에서 우리는 한국인 GSD9D 가족에 대해 PHKA1 유전자에서 c.3314T> C (p.I1105T) 돌연변이를 동정하였다. 이 돌연변이는 이전에 어떠한 돌연변이 데이터베이스에서도 보고되지 않았으며 500명의 건강한 대조군에서도 발견되지 않았다. 이 돌연변이 영역은 다양한 다른 종 내에서 잘 보존되었으며 in silico 분석에서 돌연변이가 병원성일 가능성이 있다고 예측했다. 현재까지 PHKA1 유전자에는 보고된 병원성 돌연변이가 7개뿐이며 한국에서는 보고된 사례가 없다. 따라서 이 연구는 한국 GSD9D 환자의 첫번째 사례이다. 또한 이 연구는 이전에 보고된 환자와 한국 환자의 임상 증상과 병리 상태를 비교하고 설명하고자 하였다. 아울러 우리는 본 연구가 GSD9D의 분자 진단에 유용하게 활용될 것으로 기대한다.

한국인의 뇌졸중 위중도에 관한 역학적 분석 (An Epidemiological Investigation on Severity of Cerebro-Vascular Accident Patients in Korea)

  • 전제균;노병의
    • The Journal of Korean Physical Therapy
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    • 제11권1호
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    • pp.23-43
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    • 1999
  • A study on severity of cerebro-vascular accident patients in Korea was conduced in order to determine the risk factors affecting the severity of stroke patients. This study was performed by interviewing a total of 477 hospitalized and ambulatory patient of CVA in Seoul, Taejon, and Taegu and Pusan areas from April 1, 1998 through June 30, 1998. The results are as follows; 1. Two hundred and sixty seven $(56\%)$ at Four hundred and seventy seven subjects were manes, md two hundred and ten $(44\%)$ were females. $28.3\%$ of the subjects' ages were 50's and $27.3\%$ were 60's and $18.5\%$ were 70's. $22.6\%$ of the subjects' occupations were home makers, $17.8\%$ were farming. $66.4\%$ of the subjects spent their childhood in urban areas and $33.1\%$in rural areas. $41.7\%$ of the subjects became violin of CVA in Spring, $35.0\%$ in Winter. 2. On physical and mental conditions of the subjects at the occurrence of CVA, $28.7\%$ of the subjects were engaged in physical activities. $22.6\%$ were in a rest stale $19.5\%$ were in sleeping and $18.9\%$ were mentally shocked. $79.4\%$ of the male subjects and $14.8\%$ of female subjects smoked cigarettes. $82\%$ of male subjects drank coffee. $81.1\%$ of the subjects did not exercise regularly. $45.9\%$ of the subjects had the systolic blood pressures in the range of 160 to 199 mmHg and $5.6\%$ of the subjects had hypertension before the occurrence of stroke and $11.7\%$ had diabetes. 3. Of the types of strokes, cerebral hemorrhage was the highest $(49.1\%)$. cerebral infarction was the second $(41.1\%)$. Severe strokes were found in cerebral hemorrhage cases $(52.0\%)$ and cerebral infarction cases $(40.1\%).\;50.9\%$. of the male subjects were moderate cases, $50.9\%$ were severe cases. In females, moderate cases were $72.4\%$, severe cases $15.2\%$. $37.5\%$ of the subjects who had preceding diseases were severe cases, and $15.6\%$ of the subjects without preceding diseases were severe cases. $50.7\%$ of the subjects whose family members had strokes had severe strokes. $34\%$ of the subjects sleeping less than 6 hours a day, $42.4\%$ of the subjects with irregular eating habits, $33.3\%$ of the subjects who liked meat, and $42.3\%$ of the subjects who liked salty foods had severe strokes. $35.9\%$ of the subjects with hot temper, $27.6\%$ of the subjects with moderate temper and $14.5\%$ of subjects with mild temper were severe cases. 4. The correlation coefficient between obesity and blood pressure was 0.094.

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성인간호학회지 논문(1989-2000)의 내용과 경향 분석 (An Analysis on the Contents and the Trend of Nursing Research Published in Journal of Korean Academy of Adult Nursing (1989-2000))

  • 서문자;김소선;송미순;이명선;오의금;신경림;김옥수;이숙자;이영자;오효숙;정재심;김철규
    • 성인간호학회지
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    • 제13권4호
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    • pp.571-580
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    • 2001
  • "Journal of Korean Academy of Adult Nursing" has been published since 1989 and more than 330 articles have been published up 2000. We reviewed all the articles published in this journal to analyze the contents and trend of published articles and to find out the way of improvement both in quantity and quality of studies in this area. The results are as follows; 1) Ninety percent of articles were quantitative studies. Experimental design was used in 16.1% and quasi-experimental design was adapted in 73.6% of articles. Qualitative research were 10.3% of total articles reviewed. 2) Only 5.1% of articles described theoretical framework and 73.6% of experimentally designed articles included research hypotheses. 3) Among experimental studies, only one was true experimental studie design. Eighty nine point three persent had descriptive survey method among non-experimental studies. Amog the thirty four qualitative studies, phenomenologic(73.5%), grounded theory(14.7%), and ethnographic (11.8%) design were used. 4) Most of research subject were patients and few healthy people, healthcare worker, and patient family. 5) Psychosocial data collection method which used questionnaire were 53.7% and interview, physical measurement, observation were used in 22.8%, 8.2%, 5.4% of articles respectively. 6) Total number of keywords were 692, and average number of key words per article was 2.2. Health-related keyword was the most frequently used according to four metaparadigm of nursing (human, health, nursing, and environment). Environment related keyword was rarely appeared. The number and quality of nursing research in "Journal of Korean Academy of Adult Nursing" have been improved continuously. It is difficult to find out special trend or characteristics which is unique in this journal because of relatively short history of adult nursing studies. This review study was performed to analyze adult nursing studies only in the view of quantitative aspect, but it is needed to analyse qualitatively to find philosophical or theoretical trend in nursing.

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일개 의료원을 방문한 지네 교상 환례에 대한 조사 (Study on the Centipede Bite Cases Who Visited a Medical Center)

  • 이동욱
    • 농촌의학ㆍ지역보건
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    • 제27권1호
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    • pp.79-86
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    • 2002
  • 1998년 9월부터 1999년 8월까지 중소도시에 소재한 의료원 응급실을 방문한 지네 교상 환자는 여자 21명(58.4%), 남자 15명(41.6%)으로 총 36명이었다. 계절에 따른 변화는 6월에 한번 증가하고, 8월과 9월에 증가하며 9월에 가장 많았다. 시간에 따른 빈도는 일몰 후(저녁 6시부터 다음날 아침 6시까지)가 27명으로 일몰전 9명보다 많았다. 부위에 따른 빈도는 손가락 (30%), 목(28%), 발(25%), 손(14%) 등의 순이었다. 손과 손가락은 작업 중에 장갑을 끼거나, 일을 하던 중에 물렸으며, 발은 신발을 신다가 물렸다. 목의 경우는 잠을 자던 중에 물린 것으로 조사되었다. 국소적인 증상은 통증 36명(100%), 종창 36명(100%), 홍반 26명(72.2%), 감각이상 5명(13.9%)이 있었고 전신적인 증상은 어지러움 2명(5.6%), 오심 1명(2.8%) 있었다. 국소적 증상에서 통증의 호전은 대부분이 48시간 이내에 호전되었다. 종창의 호전은 48시간 이내 많은 호전이 있었고, 감각 이상은 72시간 이내에 호전되었다. 전신적인 증상으로 어지러움과, 오심은 24시간 이내에 호전되었다. 왕지네류 교상에서 치료와 예후는 각 나라마다 비슷하였다. 이에 우리 나라 실정에 맞는 표준화된 치료 지침을 만들어 지네에게 물렸을 때 국소적 증상과 전신적 증상, 그리고 외상에서 빨리 회복 될 수 있도록 하여야한다.

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우리나라 소화기암 환자들의 대체의료이용에 관한 연구 (Use of Complementary and Alternative Medicine among Cancer Patients in Korea)

  • 정은영;한동운;최병희;김유겸;박연희
    • 동의생리병리학회지
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    • 제21권6호
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    • pp.1590-1596
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    • 2007
  • Complementary and alternative medicine (CAM) has gained in popularity among cancer patients in recent years. The use of CAM in cancer patients is common with about one third of patients using some form of CAM in Western countries. The purpose of this study was to analyze the use of CAM and determine what factors affect to use CAM among cancer patients to provide CAM therapy information and assist therapy selection among various CAM therapies to cancer patients. The design of the study was descriptive cross-sectional, and data were collected using a 16-item questionnaire. This study was conducted in subjects with confirmed diagnosis of stomach, colon, liver, or pancreas cancer, in both out-patients clinics and inpatients setting in a tertiary hospital in Seoul Korea. As a result, among the participants, past or current CAM use was reported by 75%, which shows a statistically significant difference in income groups(P<0.05), but no difference in age and religion groups. The most common therapies use by cancer patients included traditional Korean medicine (32.1%), folk remedies (26.6%), exercise (14%), dietary supplements (11.6%), physical therapy (9.9%), diet therapy (5%), and meditation (4%). 77.8% of patients show satisfaction and 64.4% shows perceived effectiveness of CAM. Male patients with higher income, and previous treatment were more likely to use CAM. The main benefits from CAM reported by cancer patients were psychological improvement and symptom improvement. Of the cancer patients used CAM, 30.9% were dissatisfied, 25.8% did not have benefits from the use, and 7.6% experience side effects. Cancer patients who prefer CAM (more than 3 kinds) used it to cure cancer, on the contrary, the one who do not prefer CAM used to improve symptoms and psychological stability. The main sources of information about CAM were family and friends(54.4%), and media(24.5%), doctor and nurse(18.3%), and religion group(2.6%). Findings suggest that due to the relatively high use of CAM among cancer patients in Korea, this topic should be taken into account in the development of a holistic approach to cancer patients and efficient cancer patients management system and proactive and consistent management of CAM is necessary in the health care system in Korea.

최소 침습적 심장수술 -흉골하부절개술에 의한- (Minimally Invasive Cardiac Surgery -Lower half sternotomy-)

  • 최강주;김병훈;이양행;황윤호;조광현
    • Journal of Chest Surgery
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    • 제32권4호
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    • pp.379-382
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    • 1999
  • 배경: 최소 흉골절개술에 의한 심장수술은 전통적인 정중흉골절개술보다 절개창의 크기가 작고 환자에게 술후 빠른 회복과 상처에 대한 만족감을 줄 수 있는 장점이 있다. 대상 및 방법: 인제대학교 부산백병원 흉부외과에서는 1998년 4월부터 7월까지 최소 흉골절개술에 의한 심장수술 25례를 시행하였다. 대상환자의 평균나이는 30세, 평균체표면적은 1.5m2이었고 성별로는 남자 10명, 여자 15명이었으며 10세 미만 소아도 4명이었다. 수술은 승모판막질환 10례, 심실중격결손증 4례, 심방중격결손증 11례를 대상으로 하여 피부를 3번 늑간에서부터 검상돌기의 끝까지 정중 흉부선을 따라 절개하였다. 결과: 피부절개창의 길이는 평균 11cm이고 흉골은 2번 늑간에서 하부까지 정중절개하였는데 대상환자중 4례에서는 좌우 2번 늑간으로 T형, 17례에서는 좌측 2번 늑간으로 J형 횡절개를 하였고, 소아 4례에서는 횡절개를 하지않았다. 최소절개에 의한 합병증은 없었고 통증이 적으며 수술후 중환자실 치료시간은 평균 20시간으로 짧아 환자와 가족들의 만족도는 높았다. 결론: 최소 흉골절개술에 의한 심장수술은 전통적인 정중흉골 절개술보다 환자의 회복이 빠르고 미용적 만족도도 높을 뿐만 아니라 최소절개로 인한 합병증도 없어 향후 이러한 수술법의 적용이 증가할 것으로 예상된다.

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척수손상 환자의 재활 동기에 영향을 미치는 요인 (Factors Influencing the motivation for Rehabilitaion in Patients with Spinal Cord Injury)

  • 박영숙;김정희
    • 한국보건간호학회지
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    • 제17권1호
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    • pp.83-95
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    • 2003
  • The purpose of this study was to provide basic data for nursing interventions to promote rehabilitation motivation by identifying the influencing factors of motivating rehabilitation intention in patients with spinal cord injury. The data were collected using self-reported questionnaires and questionnaires by postal mail services, from September 1 through the October 6, 2002. A total of 148 questionnaires were completed and returned. The instrument developed by Han, Hye Sook(2001) was used to measure the rehabilitation motivation, and depression, family support, participation of self-help group, self-esteem, and self-efficacy were measured to test the variables influencing the rehabilitation motivation. Using SPSS WIN 10.0, descriptive statistics, t-test, one-way ANOVA. Turkey inspection, Pearson's correlation coefficient, and stepwise multiple regression analysis was conducted. The results of the study are as follows: The rehabilitation motivation score ranged from 30 to 100, and the average was $76.78(\pm12.40)$. In terms of the types of motivation, mean task-oriented motivation score was $23.28(\pm3.39)$, change-oriented motivation $22.25(pm3.16)$, obligatory motivation $9.90(\pm2.02)$, external motivation $9.85(\pm1.89)$, and mean amotivation score was $11.50(\pm1.94)$. The scores for the rehabilitation motivation was significantly associated with the time elapsed since injury, economic status, and the degrees of disability. Significant correlations were found between the rehabilitation motivation and the time elapsed since injury(r=-0.222, p=0.007), self-efficacy(r=0.204, p=0.013), depression(r=-0.210, p=0.010). and the economic status(r=-0.189, p=0.022). The variables that can predict the rehabilitation motivation included the time elapsed since injury, and self-efficacy. These variables accounted for $12.8\%$ of the variance of the rehabilitation motivation. In conclusion, the factors influencing the rehabilitation motivation in patients with spinal cord injury were found to be the time elapsed since injury, self-efficacy, depression, and the economic status of the patient, Accordingly, nursing interventions which could alleviate patients' depression and enhance self-efficacy should be designed to motivate rehabilitation. Before planning nursing interventions for patients with spinal cord injury, needs assessment should be conducted including the assessment of patients' economic status and time elapsed since injury.

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유산 가능성 임부의 정서, 불편감 및 간호요구에 관한 연구 (A Study on Emotions, Feelings of Discomfort, and Nursing Needs of the Women in the Possibility of Abortion : Centered on the Threatened Abortion and Habitual Abortion during Hospitalization)

  • 윤인숙
    • 여성건강간호학회지
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    • 제1권1호
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    • pp.119-137
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    • 1995
  • Maternity nurses' roles are to find out women's various responses related to the health problems during pregnancy, to intervene adequate nursing and supports, and to help them adapt satisfactorily to new situation, such as hospitalization. The purposes of this study are : firstly, to inquire about women's emotional status, feeling of discomfort, and the nursing need during hospitalization because of discomfort, and the nursing needs during hospitalization because of the possibility of abortion by threatened and habitual abortion : secondly, to provide fundamental data for developing adequate nursing intervention and improving hospital management. The subjects of this study were 62 women who were hospitalized, visited out-patient clinic for follow-up, and stayed at home after discharge since August, 1993 from one hospital located in Seoul, from March 23 to April 13, 1994. The questionnaire was consisted of 21 items of emotion(Reliability Cronbach's alpa, .77), 19 items of feeling of discomfort(.79), and 21 items of nursing needs (.89), and nurses' performance according to nursing needs,(.90). These were measured by using Likert Scale and analyzed by using SPSS / $PC^+$ with the descriptive statistics, $X^2$-test, and ANOVA. Research findings are as follows : 1) The subjects' average age, hospitalized days, and gestational age are 32.2, 15.7, 12.9 by respectively. 2) 88.7% of the subjects are getting antepatal care, 66.1% are experiencing 1.75 times of spontaneous abortion, and 82.3% are nuclear family. 3) The Emotions were mainly comprized negative and subjective state of minds such as uneasiness, anxiety, and discomfort. The domains of emotions were related to 'fetus', 'herself', 'hospitalization', and 'husband's 'families', in rank. The highest scored item was "I, above anyone else, am mostly stressed from abortion." 4) The feelings of discomforts were firstly related to 'personal discomfort arising from absolute bed rest', 'meals provided', Usage of hospital, perse', 'health team', in rank. 5) The nursing needs frequently pointed out were 'Nurses kindly explain of me the purpose, method, and results of the lab. test', 'Nurses sincerely pay attention to my word in communication'. The least nursing needs were 'Nurses observe my feces and whether I have constipation or not'. 'When I can't move, nurses help me by holding my arms or pulling my bed'. 6) The highest performed items were 'Nurses observe whether I bleed or not', and 'Nurses give me drug with exact dose in time'. The least performed items was about hospital environment, such as 'Temperature, ventilation & humidity in the room should be controlled'. 7) Besides religion that is related to nursing need with statistically significant difference, none of general characteristics were related to emotion, feeling of discomfort, and nursing needs.

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Prognostic Significance of Desmoglein 2 and Desmoglein 3 in Esophageal Squamous Cell Carcinoma

  • Fang, Wang-Kai;Gu, Wei;Liao, Lian-Di;Chen, Bo;Wu, Zhi-Yong;Wu, Jian-Yi;Shen, Jian;Xu, Li-Yan;Li, En-Min
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권2호
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    • pp.871-876
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    • 2014
  • Objective: Desmogleins (DSGs) are major members among the desmosomal cadherins critically involved in cell-cell adhesion and the maintenance of normal tissue architecture in epithelia. Reports exploring links of DSG family member expression with cancers are few and vary. The aim of this study was to investigate the ratio of DSG2 and DSG3 mRNA expression in esophageal squamous cell carcinoma (ESCC) tissue to normal tissue (T/N ratio) and evaluate correlations with clinical parameters. Methods: The mRNA expression of DSGs, as well as ${\gamma}$-catenin and desmoplakin, was detected by real-time quantitative RT-PCR in 85 cases of ESCC tissue specimens. Results: The expression level of DSG3 mRNA was significantly higher than that of DSG2 in ESCC specimens (p=0.000). DSG3 mRNA expression highly correlated with histological grade (p=0.009), whereas that of DSG2 did not significantly relate to any clinicopathologic parameter. Kaplan-Meier survival analysis showed that only DSG3 expression had an impact on the survival curve, with negative DSG3 expression indicating worse survival (p=0.038). Multivariate Cox regression analysis demonstrated DSG3 to be an independent prognostic factor for survival. Furthermore, correlation analysis demonstrated the mRNA level of DSG3 to highly correlate with those of ${\gamma}$-catenin and desmoplakin in ESCC samples (p=0.000), implying that the expression of desmosomal components might be regulated by the same upstream regulatory molecules. Conclusions: Our findings suggest that DSG3 may be involved in the progression of ESCC and serve as a prognostic marker, while expression of DSG2 cannot be used as a predictor of ESCC patient outcome.

암 환자의 삶의 질에 영향을 미치는 재정 관련 어려움 요인 (Financial Hardship Factors affecting the Cancer Patient's Quality of Life)

  • 이영선;김수연;박정환
    • 한국산학기술학회논문지
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    • 제21권10호
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    • pp.299-307
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    • 2020
  • 연구목적: 본 연구는 암 환자의 삶의 질에 영향을 미치는 재정 관련 어려움 요인을 찾고자 수행하였다. 방법: 연구대상은 항암, 방사선 치료 경험이 있는 암 환자이며, 종속변수는 삶의 질, 독립변인은 인구사회학적 요소, 의료적 상황, 재정관련 어려움(암 치료비로 인한 물질적 상황, 심리적 반응, 대처행동)을 변인으로 하여 모형을 구성하였다. 자료수집은 자기기입식 설문지를 활용, 5개 요양병원에서 수집하였으며, 422부의 설문지를 분석에 사용하였다. 분석방법은 인구사회학적, 의료적 변인과 함께, 세 유형으로 분류한 재정관련 어려움 변인을 각각 단계적으로 투입하여 5단계로 위계적 다중 회귀분석 하였다. 결과: 삶의 질에 가장 영향력이 큰 요인은 평소처럼 일할 수 없거나, 가계에 도움이 될 수 없다는 좌절감이었으며, 신체활동수행정도가 나쁠수록, 동반질환이 있는 경우, 여자인 경우, 암 치료비에 대한 심리적 부담감이 클 경우, 치료비용에 대한 의료진과 의사소통 만족도가 낮을 경우, 경제적 상황에 대해 잘 관리되고 있다고 느끼지 못하는 경우, 삶의 질이 나쁜 것으로 나타났다. 결론: 본 연구결과가 암 환자 삶의 질 향상을 위한 실천 현장의 중재 프로그램 개발, 임상적 개입방안 및 관련 정책 방안 마련을 위한 근거로 활용되길 기대한다.