• Title/Summary/Keyword: Patient family

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Sequencing analysis of the OFC1 gene on the nonsyndromic cleft lip and palate patient in Korean (한국인 비증후군성 구순구개열 환자의 OFC1 유전자의 서열 분석)

  • Kim, Sung-Sik;Son, Woo-Sung
    • The korean journal of orthodontics
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    • v.33 no.3 s.98
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    • pp.185-197
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    • 2003
  • This study was performed to identify the characteristics of the OFC1 gene (locus: chromosome 6p24.3) in Korean patients, which is assumed to be the major gene behind the nonsyndromic cleft lip and palate. The sample consisted of 80 subjects: 40 nonsyndromic cleft lip and palate patients (proband, 20 males and females, mean age 14.2 years); and 40 normal adults (20 males and 20 females, mean age 25.6 years). Using PCR-based assay, the OFC1 gene was amplified, sequenced, and then searched for similar protein structures. Results were as follows: 1. The OFC1 gene contains the microsatellite marker 'CA' repeats. The number of the reference 'CA' repeats was 21 times, and formed as TA(CA)11TA(CA)10. But, in Koreans, the number of tandem 'CA' repeats was varied from 17 to 26 except 18, and 'CA' repeats consisted of TA(CA)n. 2. Nine allelic variants were found. Distribution of the OFC1 allele was similar between the patients and control group. 3. There was a replacement of the base 'T' to 'C' after 11 tandem 'CA' repeats in Koreans compared with Weissenbach's report. However, the difference did not seem to be the ORF prediction results between Koreans and Weissenbach's report. 4. The BLAST search results showed the Telomerase reverse transcriptase (TERT) and the Nucleotide binding protein 2 (NBP2) as similar proteins. The TERT was a protein product by the hTERT gene in the locus 5p15.33 (NCBI Genome Annotation; NT023089) The NBP2 was a protein product by the ABCC3 (ATP-binding cassette, sub-family C) gene in the locus 17q22 (NCBI Genome Annotation; NT010783). 5. In the Pedant-Pro database analysis, the predictable protein structure of the OFC1 gene had at least one transmembrane region and one non-globular region.

Types of Perception toward End-of-Life Medical Decision-making of Clinical Nurses: Q-Methodological Approach (말기환자의 의료적 의사결정에 관한 임상간호사의 인식: Q 방법론적 접근)

  • Jo, Kae-Hwa;Kim, Yeon-Ja;Sohn, Ki-Cheul
    • Journal of Hospice and Palliative Care
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    • v.15 no.1
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    • pp.18-29
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    • 2012
  • Purpose: We analyzed how clinical nurses in Korea perceive terminally ill patients' medical decision-making. Methods: The Q-methodology which analyzes the subjectivity of each item was used. We selected 34 Q-statements among those provided by each of 37 subjects and grouped them into a shape of normal distribution using a 9 point scale. The collected data were analyzed using a QUANL PC program. Results: Four types of perception toward medical decision-making were identified. Type I focuses on patient participation, and Type II emphasizes the role of health professionals. Type III is characterized by an open-minded culture toward death, and Type IV values the role of family members. Conclusion: The results of this study indicate the need for development of a multi-disciplinary curriculum medical decision-making and death for medical and nursing students.

Management of Non-pain Symptoms in Terminally Ill Cancer Patients: Based on National Comprehensive Cancer Network Guidelines (말기암환자에서 통증 외 증상의 관리: 최신 NCCN(National Comprehensive Cancer Netweork) 권고안을 중심으로)

  • Lee, Hye Ran
    • Journal of Hospice and Palliative Care
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    • v.16 no.4
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    • pp.205-215
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    • 2013
  • Most terminally ill cancer patients experience various physical and psychological symptoms during their illness. In addition to pain, they commonly suffer from fatigue, anorexia-cachexia syndrome, nausea, vomiting and dyspnea. In this paper, I reviewed some of the common non-pain symptoms in terminally ill cancer patients, based on the National Comprehensive Cancer Network (NCCN) guidelines to better understand and treat cancer patients. Cancer-related fatigue (CRF) is a common symptom in terminally ill cancer patients. There are reversible causes of fatigue, which include anemia, sleep disturbance, malnutrition, pain, depression and anxiety, medical comorbidities, hyperthyroidism and hypogonadism. Energy conservation and education are recommended as central management for CRF. Corticosteroid and psychostimulants can be used as well. The anorexia and cachexia syndrome has reversible causes and should be managed. It includes stomatitis, constipation and uncontrolled severe symptoms such as pain or dyspnea, delirium, nausea/vomiting, depression and gastroparesis. To manage the syndrome, it is important to provide emotional support and inform the patient and family of the natural history of the disease. Megesteol acetate, dronabinol and corticosteroid can be helpful. Nausea and vomiting will occur by potentially reversible causes including drug consumption, uremia, infection, anxiety, constipation, gastric irritation and proximal gastrointestinal obstruction. Metoclopramide, haloperidol, olanzapine and ondansetron can be used to manage nausea and vomiting. Dyspnea is common even in terminally ill cancer patients without lung disease. Opioids are effective for symptomatic management of dyspnea. To improve the quality of life for terminally ill cancer patients, we should try to ameliorate these symptoms by paying more attention to patients and understanding of management principles.

Is the BRCA Germline Mutation a Prognostic Factor in Korean Patients with Early-onset Breast Carcinomas? (한국의 젊은 여성유방암 환자에서 BRCA 배선유전자 돌연변이는 예후인자인가?)

  • Choi Doo Ho;Lee Min Hyuk;Haffty Bruce G.
    • Radiation Oncology Journal
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    • v.21 no.2
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    • pp.149-157
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    • 2003
  • Purpose: The purpose of this study was to determine if there were prognostic differences between BRCA related and BRCA non-related Korean patients with early-onset breast carcinomas. Materials and Methods: Sixty women who had developed breast cancers before the age of 40, and who were treated at the Soonchunhyang University Hospital, were studied independently of their family histories. The age range was 18 to 40 with a median of 34.5 years. Lymphocyte specimens from peripheral blood were studied for the heterozygous mutations of BRCA1 and BRCA2 using direct sequencing methods. Immunohistochemistry was peformed on the paraffin-embedded tissue blocks that were available. Results: Eleven deleterious mutations (18.3%, 6 in BRCA1 and 5 in BRCA2) and 7 missense mutations of unknown significance (11.7%), were found among the 60 patients. More than half of the mutation were novel, and were not reported in the database. Most of the BRCA-associated patients had no history of breast cancer. No treatment related failures were observed in the BRCA carriers, with the exception of one patient that had experienced a new primary tumor of the contralateral breast. The seven year relapse free survival rate were 50 and 79% In the BRCA carrier and BRCA negative patients, respectively. Although the expression of estrogen and progesterone receptors were less common, and histological features more aggressive, in the BRCA associated tumors, the outcome of the patients with BRCA mutations was not poorer than that on the patients without deleterious mutations. Conclusion.: Despite the BRCA mutation carriers having adverse prognostic features, the recurrence rate was relatively lower than that in the BRCA non-carrying Korean patients wi4h early-onset breast carcinomas. In addition, although the prevalence of the BRCA mutation in Korean patients was higher than that in white patients, the penetrance of the cancer seemed to be relatively low in Korean women carrying BRCA mutations. A large population based study of the BRCA mutation, with a long-term follow-up of the study patients will be required to confirm these results.

A Study of Clinical Model for Radiation Therapy in Lung Cancer Patients of Busan and South Gyeongnam Province (부산, 경남지역 폐암 환자의 방사선치료 이용에 대한 임상 결정 모델 연구)

  • Son, Jongki;Kim, Yunjin;Jo, Deokyoung
    • Journal of the Korean Society of Radiology
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    • v.9 no.6
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    • pp.393-401
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    • 2015
  • Radiation therapy for lung cancer is an effective treatment during monotherapy or combination therapy. Studies have reported that the optimum utilization rate of radiation therapy is estimated at 61% to 74%. Radiation therapy in Korea has been investigated to be low; further studies are needed. This study was intended to assess the appropriateness of the use of radiation and to reveal the use of radiation therapy-related factors by examining radiation therapy in lung cancer patients of Busan and South Gyeongnam Province. This study was aimed at the population diagnosed with lung cancer in Busan and South Gyeongnam Province. To conduct the study, 1036 patients enrolled in two hospitals were collected and 897 appropriate as subjects were selected. We compared the optimum utilization rate and actual rate of radiation therapy, and revealed the adequacy and related factors for use of radiotherapy. Of 897 patients, 503 (56%) were treated with medical therapy and 394 (44%) were given radiotherapy. The radiotherapy utilization rate of all lung cancer patients was 42%. The proportion of non-small cell lung cancer by histologic type was 33% and that of small cell lung cancer was 90%. Factors related to radiation therapy used in cancer were age, histological type, clinical stage, doctor refereed to, and clinical examination. Compared to radiation utilization by region (site), curative chest therapy was 42%; palliative treatment was 26%. In the comparison of histologic types, utilization of small-cell lung cancer is lower; the lowest especially in the stage III. Utilization of radiation therapy in Busan and South Gyeongnam Province was lower than the reasonable one. Utilization difference could be explained by patient factors, tumor factors, and health service factors. To improve utilization,development ofoutreach service programs and activation of the multidisciplinary team are required.

한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의

  • Park, Hyeong-Du;Jo, Seong-Yun;Lee, Su-Yeon;Jeon, Eun-Seok;Park, Seung-U;Lee, Sang-Hun;Lee, Sang-Cheol;Choe, Jin-O;Park, Seong-Ji;Jang, Seong-A;Kim, Hyeong-Gwan;Gi, Chang-Seok;Kim, Jong-Won;Jin, Dong-Gyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.135-141
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    • 2014
  • Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

Assessment of the Effect of a Public Health Clinics' Home-Based Terminal Cancer Patient Management in Collaboration with a Regional Cancer Center (경남 지역 암센터와 보건소 재가암환자 관리 서비스와의 연계 사업)

  • Song, Haa-Na;Kang, Myoung Hee;Lee, Gyeong Won;Kim, Hoon Gu;Lee, Won Sup;Kang, Jung Hun;Kang, Yoon Sik;Eun, Young
    • Journal of Hospice and Palliative Care
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    • v.16 no.1
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    • pp.10-19
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    • 2013
  • Purpose: Home-based care providers were surveyed to assess the effect of collaborative service between Gyeongnam Regional Cancer Center (GRCC) and public health centers (PHCs) in Gyeongnam province. Methods: Twenty home-based care providers who had previously participated in the GRCC-PHC care project were recruited from nine PHCs and were surveyed using a questionnaire developed by specialists. Questions were rated using the 5-point Likert scale ranging from "strongly disagree (-2)" to "strongly agree (+2)" and each score was multiplied by the corresponding number of respondents (n=20) with the maximum score of 40. Results: Between January 2008 and December 2011, 73 patients were registered to the collaborative service: 72 by GRCC and one by PHC. Home-based care providers marked the highest score (23 points) to "The collaborative service contributed to patients and their family's psychological stability" and the lowest score (11 points) to "The collaborative service was generally helpful for home-based cancer management." For possible suggestions to improve the service, the highest score (35 points) was given to "Simplification of the hospitalization process" followed by "Substantial benefits for patients at their visit to the hospital" (34 points). Conclusion: The results revealed several limitations of the GRCC-PHC collaborative care service for terminal cancer patients. The service could be further improved by developing measures to address the limitations and a service model tailored to region-specific needs.

Clinical Observation of The Allergic Rhinitis (알레르기성 鼻炎 患者에 對한 臨床的 考察)

  • Kim, Nam-Kwen;Lim, Gyu-Sang;Hwang, Choong-Yeon
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.10 no.1
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    • pp.367-382
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    • 1997
  • The author analyzed 46 cases of allergic rhinitis patients, who were treated in the Kwang-ju Oriental Medical Hospital of Wonkwang University from January 1997 to April 1996. I've examined the 46 cases in the view of age and sex distribution, seasonal distribution, distribution of the job, duration of the disease, past history, family history, distribution of complicated signs, the degree of recovery about the total patient, the relationship of the ages and the remedial value, the relationship of the duration of disease and the remedial value. The following results are obtained. 1. The ratio of under teenagers was $32.61\%$(15 cases), teenagers was $30.43\%$(11 cases), 2th decade was $17.39\%$(8 cases), 3th decade was $17.39\%$(8 cases), 4th decade was $4.35\%$(2 cases), 5th decade was $2.17\%$(1 case), over sixty was $2.17\%$(1 case). 2. The ratio of the male was $58.70\%$(27 cases) and femal was $41.30\%$(19 cases). 3. The ratio of spring was $21.74\%$(10 cases), summer was $8.70\%$(4 cases), fall was $43.48\%$(20 cases), winter was $43.48\%$(20 cases) and unknown was $10.87\%$(5 cases). 4. The ratio of the students was $45.65\%$(21 cases), house-wives was $15.22\%$(7 cases), office men was $10.87\%$(5 cases), farmers was $4.35\%$(2 cases), driver was $2.17\%$(1 case) and unemployed was $21.74\%$(10 cases). 5. The ratio of the under six months was $8.70\%$(4 cases), under 1 year was $17.39\%$(8 cases), under 3 years was $32.60\%$(15 cases), over 3 years was $41.31\%$(19 cases). 6. The ratio of atopic dermatitis was $32.61\%$(15 cases), allergic dermatitis was $21,74\%$(10 cases), the asthma was $17.39\%$(8 cases), digestion disorder was $6.52\%$(3 cases) and etc. 7. The ratio of paternal line was $21.74\%$(10 cases), maternal line was $13.04\%$(6 cases), paternal and maternal lines was $4.35\%$(2 cases), brother or sisters was $13.04\%$(6 cases) and non-significant was $47.83\%$(22 cases). 8. The ratio of sneezing was $100\%$(46 cases) , nasal discharge was $100\%$(46 cases), nasal obstruction was $86.96\%$(40 cases), pruritus was $45.65\%$(21 cases), headache was $13.04\%$(6 cases), asthma was $10.87\%$(5 cases), digestion disorder was $6.52\%$(3 cases), light phovia was $6.52\%$(3 cases), tears was $4.35\%$(2 cases), nosebreeding was $2.17\%$(1 case). 9. The total remedial value of the 46 patients was revealed $52.17\%$. 10. The remedial value of under teenagers, teenagers were higher than the total remedial value($52.17\%$). 11. The remedial value of under 6 months, under 1 year were higher than the total remedial value($52.17\%$). These results demonstrated that in the point of remedial view, the patients who were younger and shorter of the duration of disease, would be well recovered.

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A Study on the Degree of Physical, Psychological and Social Adaptation of CVA Patients (뇌졸중(腦卒中) 환자(患者)의 신체적(身體的).심리적(心理的).사회적(社會的) 적응도(適應度)에 관(關)한 연구(硏究))

  • Hwang Hyun-Sook;Park Kyung-Sook
    • Journal of Korean Academy of Fundamentals of Nursing
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    • v.3 no.2
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    • pp.213-233
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    • 1996
  • This study was made on 274 apoplectics patients who received the rehabilitation therapy and tests on physical, psychological and social adaptations as outpatients in 23 general hospitals in the Seoul and Kyungi area. The basic data on degree of improvement of apoplectic patients studied from rehabilitation therapy. Data was collected over a period of 63 days, from February 21st till April, 23, 1996. The assigned physical therapist conducted direct interviews with patients after he answered the distributed questionnaires for each individual patient. The colleted data was processed by the $SPCC/C^+$ method. The results of the tests conducted to meascne the the degree of ADL dependency, depression and social activity corresponding to the physical, psychological, and social adaptation. The details are ; 1) The test to meascne the degree of ADL dependency, corresponding to the study of physical adaptation of CVA patients, indicated a mean score of 2.57(ideal score is 1.0) with a standard deviation of ${\pm}0.75$. The worst score was 3.95 while the best score was a perfect 1.0, representing a severe range of dependency. The distribution was centered with a median of 2.65 and a mode of 2.68. 2) The test to meascne the degree of depression which corresponds to the level of psychological adaptation yielded a mean of 2.99 which is higher than the normal limit of 2.45. The standard deviation was ${\pm}0.52$ and the worst score and the best score were 4.35 and Respectirdy. The distribution was centered with a median of 3.00 and a mode of 3.00. 3) The test to meascne the degree of social activities for the level of social adaptation indicated a very low mean score of 26.52 (perfect score is 144), with the standard deviation of ${\pm}16.23$. Some patients scored as high as 100, but others scored as low as 3. The distribution of social activities at a very low level was shifted to the left with a median of 24.00 and a mode of 20.00. 4) Factors influencing the level of physical, psychological and social adaptation are as follows : Factors significantly influencing the level of physical adaptation measured by ADL dependency are age, personal guardian, payer of medical expenses, and paralysis of the right arm, right leg and facial paralysis. Factors significantly influencing the level of psychological adaptation measured by the degree of depression, are age, marital status, education, medical history of individual and family, speech impediment, and facial paralysis. Factors significantly influencing the level of social adaptation measured by the degree of social activity are age, marital status, education, employment status, and the burden of medical expense. 5) The Corelationship is significant(9.00), between ADL dependeing as degree of physical adaptation and depreseion as degree of psychologial adaptation. ADL dependency is proportional to depression. But social activity is inversely protional to ADL dependeny and depression. In conclusion, the increased care for physical function of the patients is not the only necessary means to better facilitate the appropriate adaptation of CVA patients. The introduction of a solid rehabilitation program for psychological and social adaptation will also play the integral part of the treatment of CVA patients.

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MMP-2, MMP-8 Expression in gingival tissue of Chronic Periodontitis associated to Type 2 Diabetes Mellitus (2형 당뇨병을 동반한 만성 치주염 환자의 치은조직에서 MMP-2, MMP-8의 발현 양상 비교)

  • Kang, Min-Gu;Cha, Hyun-Jeong;Song, Sun-Hee;Park, Jin-Woo;Suh, Jo-Young;Lee, Jae-Mok
    • Journal of Periodontal and Implant Science
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    • v.35 no.3
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    • pp.661-674
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    • 2005
  • The purpose of this study was to quantify and compare the level of MMP-2, MMP-8 in the healthy, inflammed gingival tissue and inflammed gingival tissue associated with type 2 DM. We investigate whether expression of MMP-2, MMP-8 is increased by chronic periodontitis associated with type 2 DM. Gingival tissue samples were obtained during periodontal surgery or tooth extraction. Based on patient's systemic condition & clinical criteria of gingiva, each gingival samples were divided into three groups. Group l(n=8) is clinically healthy gingiva without bleeding and no evidence of bone resorption or periodontal pockets, obtained from 8 systemically healthy patients. Group 2(n=8) is inflammed gingiva from patients with chronic periodontitis. Group 3(n=8) is inflammed gingiva from type 2 diabetic patients with chronic periodontitis. Tissue samples were prepared and analyzed by Western blotting. The quantification of MMP-2, MMP-8 was performed using a densitometer and statistically analyzed by ANOVA. MMP-2, MMP-8 was expressed in all samples including healthy gingiva and increased in group 3 compared to group 1 and 2, and showed that significant variation was observed between group 1 & 3 in MMP-8 results. In conclusion, this study demonstrated that human gingival tissue with chronic periodontitis associated to type 2 diabetes showed slightly elevated MMP-2, MMP-8 levels compared to healthy gingiva and non-diabetic inflamed gingiva.