• Title/Summary/Keyword: Patient family

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

  • Kim, Hye Jin;Nam, Soo Hyun;Kim, Sang Beom;Chung, Ki Wha;Choi, Byung-Ok
    • Journal of Life Science
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    • v.30 no.8
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    • pp.672-679
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    • 2020
  • Distal myopathy is a clinically and genetically heterogeneous group of degenerative diseases of the distal muscle. Glycogen storage disease type IXD (GSD9D) is a metabolic distal myopathy characterized by muscle deficiency of phosphorylase kinase, a key regulatory enzyme in glycogen metabolism. Affected individuals may develop muscle weakness, degeneration, and cramps, as well as abnormal muscle pain and stiffness after exercise. It has been reported that mutations in the PHKA1 gene which encodes the alpha subunit of muscle phosphorylase kinase cause GSD9D. In this study, we examined a Korean GSD9D family with a c.3314T>C (p.I1105T) mutation in the PHKA1 gene. This mutation has not been previously reported in any mutation database nor was it found in 500 healthy controls. The mutation region is well conserved in various other species, and in silico analysis predicts that it is likely to be pathogenic. To date, only seven mutations in the PHKA1 gene have been documented, and this is the first report of Korean GSD9D patients. This study also describes and compares the clinical symptoms and pathological conditions of previously reported cases and these Korean patients. We believe that our findings will be useful for the molecular diagnosis of GSD9D.

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

  • Jeon Jae-Kyun;Roh Pyong-Ui
    • The Journal of Korean Physical Therapy
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    • v.11 no.1
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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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An Analysis on the Contents and the Trend of Nursing Research Published in Journal of Korean Academy of Adult Nursing (1989-2000) (성인간호학회지 논문(1989-2000)의 내용과 경향 분석)

  • Suh, Moon-Ja;Kim, So-Sun;Song, Mi-Soon;Yee, Myoung-Sun;Oh, Eui-Geum;Shin, Kyung-Rim;Kim, Ok-Soo;Lee, Sook-Ja;Lee, Young-Ja;Oh, Hyo-Sook;Jung, Jae-Sim;Kim, Chul-Kyu
    • Korean Journal of Adult Nursing
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    • v.13 no.4
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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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Study on the Centipede Bite Cases Who Visited a Medical Center (일개 의료원을 방문한 지네 교상 환례에 대한 조사)

  • Lee, Dong-Uk
    • Journal of agricultural medicine and community health
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    • v.27 no.1
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    • pp.79-86
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    • 2002
  • Thirty six patients, female 21(58.4%), male 15(58.4%), with centipede bite visited emergency room of Gimcheon Medical Center, from September 1998 to August 1999. The number of patients accompanying the seasons were increased once in June and were high in August and September; peaked in September, which conforms to the habitude that centipede likes the warmer climate. Frequency accompanying the time was high after sunset(from 6 p.m. to 6 a.m. next morning) than before sunset, which conforms to the habitude that centipede is nocturnal. Distribution of the bite sites was finger(30%), neck(28%), foot(25%) and hand(14%) as same as the previous researches showed. In case of finger and hand, patients got bitten while they were wearing gloves or doing works; foot, wearing shoes. They got bitten the neck while sleeping. Among the localized symptoms were localized pain: 36 patients(100%), swelling: 36 patients(100%), erythema: 26 patients(72.2%), paresthesia: 5 patients (13.9%). Systemic symptoms were dizziness 2 patients(5.6%) and nausea 1 patient(2.8%). Mostly the localized pain was improved within 48 hours, swelling in 48 hours and within 72 hours in case of paresthesia. Systemic symptoms such as dizziness and nausea were improved within 24 hours. Treatment and prognosis of scolopendra have similarity in many countries. We suggest that Korean standard treatment manual is needed so that the localized symptom, systemic symptom and external wound can be cured soon.

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

  • Jung, Eun-Young;Han, Dong-Woon;Choi, Byung-Hee;Kim, You-Kyum;Park, Yeon-Hee
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.21 no.6
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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.

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

  • 최강주;김병훈;이양행;황윤호;조광현
    • Journal of Chest Surgery
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    • v.32 no.4
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    • pp.379-382
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    • 1999
  • Background: There are several advantages to the ministernotomy approach. The skin incision is much smaller than the traditional median sternotomy incision. This approach allows the patients to return to normal life more quickly and provide them with good self-image. Material and Method: From April to July 1998, we performed a ministernotomy via lower half sternum in 25 patients. There were 10 males(40%) and 15 females(60%) with a mean age of 30${\pm}$16 years(range 3 to 55 years). The body surface area ranged from 0.58 to 1.9 m2(mean 1.5 to 0.4 m2). A vertical skin incision of 11cm in mean length was made in the midline over the sternum extending inferiorly from the third intercostal space. The sternum was divided vertically in the midline from the xyphoid process to the level of second intercostal space using a standard saw and then transversely to the left(n=17) or to both sides(n=4) of the second intercostal space using an oscillating saw. The sternum was divided vertically only in children (n=4). Result: The ministernotomy was used in 25 consecutive patients undergoing mitral valve replacement(n=10), repair of ventricular septal defect(n=4) and atrial septal defect(n=11). There was no significant complication related to ministernotomy. The mean ICU stay time 20 hours. Patient and family acceptance was very high. Conclusion: We concluded that minimally invasive cardiac surgery via ministernotomy can be done safely. These methods may benefit the patients with lesser discomfort, smaller incision, and earlier ICU discharge than the traditional incision.

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

  • Park Yeong Sook;Kim Jung Hee
    • Journal of Korean Public Health Nursing
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    • v.17 no.1
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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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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 (유산 가능성 임부의 정서, 불편감 및 간호요구에 관한 연구)

  • Youn, In-Sook
    • Women's Health Nursing
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    • v.1 no.1
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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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    • v.15 no.2
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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.

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

  • Rhee, Young-Sun;Kim, Su-Yeon;Park, Jeong-Hwan
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.21 no.10
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    • pp.299-307
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    • 2020
  • Purpose: The purpose of this study was to investigate the financial hardships affecting the quality of life of cancer survivors. Method: Data were collected from five convalescent hospitals using self-administered questionnaires, and 422 questionnaires were used for the final analysis. We used a 5-step hierarchical multiple-regression analysis by entering each sociodemographic variable, medical variable, and three types of financial hardship (a material situation, the psychological response, and coping behavior coming from cancer treatment cost) into each step. Results: The results of statistical analysis indicate that the most influential factor in the quality of life was the financial difficulty, which was the frustration that they could not work as usual or support their family financially. In addition, the performance of physical activity, accompanying diseases, women patients, psychological burden on cancer treatment cost, the satisfaction of communication with medical staff for medical expenses, and the feeling unsuccessful financial coping strategy were predictors for the quality of life of cancer survivors. Conclusion: This study provides a blueprint for the development of intervention programs in practice to improve the quality of life of cancer patients, clinical intervention plans, and health policies.