• Title/Summary/Keyword: Disease condition

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A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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Multimodal Diagnostic Approach for Synovitis of the Wrist (수근관절 활액막염 원인 질환 진단을 위한 다중적 접근법)

  • Bae, Kee Jeong;Kim, Jihyeung;Yoon, Chan;Hong, Seong Hwa;Gong, Hyun Sik;Baek, Goo Hyun
    • Journal of the Korean Orthopaedic Association
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    • v.53 no.6
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    • pp.540-546
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    • 2018
  • Purpose: The purpose of this study was to suggest a multimodal diagnostic approach to determine the cause of the disease in patients diagnosed with synovitis of the wrist and who underwent synovectomy. Materials and Methods: Twenty-nine patients, who underwent contrast magnetic resonance imaging (MRI) preoperatively and synovectomy from January 2000 to December 2013, were reviewed retrospectively. Among them, 17 patients underwent a $Tc^{99m}$ white blood cell (WBC) scan preoperatively. In patients who met the diagnostic criteria of rheumatoid arthritis (RA), the diagnosis was confirmed as RA if the MRI finding or histology was compatible with RA. If the MRI finding and histology were disparate, the final diagnosis was made based on the histologic finding. Results: Of the nine patients who met the diagnostic criteria of RA, seven patients were finally diagnosed as RA and two patients as tuberculous arthritis. Of the 20 patients who did not meet the diagnostic criteria of RA, the MRI findings and histology were consistent with the same disease in 12 patients. In the remaining eight patients, five were diagnosed with nonspecific chronic synovitis, one with RA, and two with tuberculous arthritis based on the clinical findings, MRI, and histology findings. Conclusion: MRI and a WBC scan are very useful imaging modalities for diagnosing the causative condition of the wrist synovitis. A histology evaluation after synovectomy can also be useful in cases with a difficult diagnosis or are refractory to medications.

A Characteristics and Management Plan of Elaeocarpus sylvestris var. ellipticus Population Distributed in Munseom(island), a Natural Monument (천연기념물 문섬의 담팔수 개체군 특성 및 관리방안)

  • Choi, Byoung-Ki;Lee, Ho-Sang;Seo, Yeon-Ok;Choi, Hyung-Soon;Yang, Ju-Eun;Song, Kuk-Man;Song, Gwan-Pil
    • Journal of the Korean Institute of Traditional Landscape Architecture
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    • v.39 no.1
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    • pp.37-42
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    • 2021
  • Munseom (Island) is known as the largest native Elaeocarpus sylvestris var. ellipticus in Korea. Recently, disease damage from the E. sylvestris var. ellipticus community has been reported in Munseom. This study was conducted to understand the damage situation and growth characteristics of the E. sylvestris var. ellipticus population in Munseom. The purpose of this study was to evaluate the spontaneous regeneration potential of the community by grasping the characteristics of the population of surviving E. sylvestris var. ellipticus individuals, and to discuss ways to restore native habitats. A total population survey was conducted to determine the distribution status of E. sylvestris var. ellipticus individuals. The field survey carefully recorded the height of tree, DBH, DRH, and growing status, along with GPS location information of the individual. The growth status of E. sylvestris var. ellipticus individuals distributed in Munseom and the characteristics of tree height, DBH, DRH of each individual were analyzed. The total number of E. sylvestris var. ellipticus populations identified in Munseom was 293. The dense E. sylvestris var. ellipticus community reported in 2005 has been identified as being greatly damaged or damaged. In particular, the damage was more serious in mature trees with a height of 6m or more forming the canopy layer in the forest, and it was confirmed that 80.6% of the mature trees died. In the growth characteristics of the old-growth tree, which is an indicator of the health of the forest based on DRH, 75.4% died or the growth condition was found to be poor. In order to restore the native habitat of E. sylvestris var. ellipticus in Munseom, conservation efforts such as pest control, preservation of mature trees, control of the territory of young trees, and reintroduction after ex-situ transplantation etc. are considered necessary.

The Radioprotection Effect of Dioscorea Quinqueloba Extracts on the Prostate and Heart in Male Rats (수컷 쥐 전립선과 심장에 대한 단풍마 추출물의 방사선 방호효과 연구)

  • Jae-Gyeong, Choi;Chang-Ju, Kim;Geun-Woo, Jeong;Sang-Hyun, Jeong;Sung-Hyun, Joo;Byung-In, Min
    • Journal of the Korean Society of Radiology
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    • v.16 no.6
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    • pp.779-786
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    • 2022
  • This study is designed to examine the effects of Dioscorea Quinqueloba extract as a natural radiation protection agent on the prostate and heart of male rats. Dioscorea Quinqueloba extract is well known to prevent the male-specific disease and heart disease. In this study, the Gamma-ray 10 Gy was irradiated in whole body of male rat to identify radioprotective effect by Dioscorea Quinqueloba extract. After irradiation, tissue change, SOD (Superoxide Dismutase) activity changes and hematological changes were observed. DQ+IR group showed higher lymphocyte, white blood cell, platelet levels than the IR group. In the NC and DQ groups, the number of prostate gland cells and the gap between cells were relatively narrow. But in the IR group, the cells died significantly and the gap widened. In the DQ+IR group, the gap between cells increased similarly to the IR group, but the number of dead cells was noticeably smaller. In the NC and DQ groups, the cardiovascular and myocardium are clearly separated, and cell nuclei are in good condition. But in the IR group, the cardiovascular and myocardium boundaries were disrupted, and the number of dead cell nuclei was high. In the DQ+IR group, although the boundaries were widened, but not disrupted and the number of dead cell nuclei was high. Therefore, Dioscorea Quinqueloba extract is judged to have radioprotective properties for the prostate and cardiovascular.

Analysis of Factors for Cartilage Regeneration in Patients Who Underwent High Tibial Osteotomy Combined with Microfracture (근위 경골 절골술과 미세 골절술을 함께 시행 받은 환자 군에서 연골 재생에 영향을 미치는 요인에 대한 분석)

  • Lee, Young Min;Song, Eun-Kyoo;Oh, Ho-Seok;Kim, Yu-Seok;Seon, Jong-Keun
    • Journal of the Korean Orthopaedic Association
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    • v.56 no.5
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    • pp.404-412
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    • 2021
  • Purpose: This study examined the degree of cartilage regeneration by performing second-look arthroscopy in a group of patients who underwent high tibial osteotomy and microfractures for unicompartmental osteoarthritis of the medial knee joint and to determine the factors affecting cartilage regeneration. In addition, this study analyzed whether there is a relationship between the degree of cartilage regeneration and functional results. Materials and Methods: From 2007 to 2015, this study evaluated 81 cases who underwent second-look arthroscopy at the time of plate removal after a microfracture and high tibial osteotomy with a minimum two-year follow-up. The degree of femoral cartilage injury before surgery was classified by ICRS (International Cartilage Research Society), and all were grade III and IV. After second-look arthroscopy, cartilage regeneration was classified into a well-regenerated group (grade I, II) and a poorly regenerated group (grade III, IV). The independent factors influencing cartilage regeneration were identified through multivariate logistic regression analysis. In addition, the functional results were compared before and after surgery between the two groups using the Knee Society score (KSS) and the Western Ontario and McMaster Universities Osteoarthritis Index score (WOMAC). Results: Age, sex, body mass index, postoperative radiologic factors, and preoperative joint condition did not affect the degree of cartilage regeneration significantly. The large cartilage defect (≥2.0 cm2) (p=0.011) and the presence of kissing lesions (p=0.027) were associated with poor cartilage regeneration. No significant difference in the KSS and WOMAC scores was observed between the group with good and poor cartilage regeneration. Conclusion: The presence of a large cartilage defect and kissing lesions is associated with poor cartilage regeneration after high tibial osteotomy and microfracture. On the other hand, the degree of the regenerated cartilage did not show any correlation with the functional outcome.

Intensive Culture of the Pacific White Shrimp Litopenaeus vannamei under Limited Water Exchange I. Indoor Nursery Culture of Postlarvae (사육수 비교환 방식에 의한 흰다리새우의 고밀도 사육 I. 후기유생(postlarva)의 실내 중간육성)

  • Jang, In-Kwon;Kim, Jong-Sheek;Cho, Kook-Jin;Seo, Hyung-Chul;Cho, Yeong-Rok;Gopalakannan, Ayyaru;Kim, Bong-Lae
    • Journal of Aquaculture
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    • v.21 no.4
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    • pp.339-345
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    • 2008
  • Farming of the fleshy shrimp Fenneropenaeus chinensis which is a major cultured species in the west coast of South Korea, has been suffered :trom mass mortality due to disease epizootics including viruses. Since the Pacific white shrimp Litopenaeus vannamei was introduced to Korea in 2003, farming of this species has rapidly increased for years, occupying 62.5% of total cultured shrimp production in 2007. However the studies on L. vannamei culture methods for shrimp farming situations in Korea are very limited. Nursery culture of shrimp larvae has some advantages including increased survival, improved feed efficiencies, enhanced growth performance and reduced grow-out period. In this study, L. vannamei postlarvae (${PL_3}-{PL_{10}}$) with a density of $3,750-9,090/m^3$ were cultured in four raceways under limited water exchange condition for 35 days. Survival was the highest (93.6%) in tank stocked with $4,090/m^3$ and was the lowest in tank with $9,090/m^3$ (58.1 %). Mean body weight at harvest ranged from 0.071 to 0.108 g, and FCR was 0.59-0.70 in all tanks. Concentration of total ammonia nitrogen was increased up to 20 ppm on day 10 in all tanks and thereafter gradually decreased by the third week of culture. Nitrite-nitrogen was rapidly increased from the third week, representing bio-floc condition by developed nitrifying bacterial community. Of the present nursery system some modification of structure and consideration for commercial scale are needed in order to be implemented to shrimp farmers.

Biological Control of Garlic Blue Mold using Pantoea agglomerans S59-4 (Pantoea agglomerans S59-4를 이용한 마늘 푸른곰팡이병의 생물학적 방제)

  • Kim, Yong-Ki;Hong, Sung-Jun;Jee, Hyung-Jin;Park, Jong-Ho;Han, Eun-Jung;Park, Kyung-Seok;Lee, Sang-Yeob;Lee, Seong-Don
    • The Korean Journal of Pesticide Science
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    • v.14 no.2
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    • pp.148-156
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    • 2010
  • S59-4 isolate was evaluated as a potential biocontrol agent using in vivo wounded garlic bulb assay. When the spore suspension ($10^5$ spores/$m\ell$) of Penicillium hirsutum was co-inoculated with cell suspension of S59-4 isolate on wounded garlics, the isolate showed high suppressive effect to disease development. The isolate was identified as Pantoea agglomerans S59-4(Pa59-4) through Biolog system. Furthermore, soaking garlic bulbs in the suspension of Pa59-4 significantly reduced garlic decay caused by P. hirsutum. The optimal concentration of Pa59-4 for controlling garlic blue mold was $10^7\sim10^8$ cfu/$m\ell$. And suppressive effect of Pa59-4 on garlic storage decay reduced as inoculation concentration of Penicillium hirsutum increased. In addition in order to investigate population dynamics of Pa59-4 on application site of garlic cloves, two antibiotic markers, pimaricin and vancomycin were selected. Bacterial density of Pa59-4 on the wounded garlic cloves increased continuously both under room temperature condition and low temperature condition until 30days after application of Pa59-4, meanwhile that of Pa59-4 on intact garlic cloves increased until 15days after application of Pa59-4 and thereafter decreased continuously. Two culture media for mass-production of Pa59-4, LB medium and TSB medium, were selected. By-product of bio-fungicide formulated by mixing white carbon and bacterial suspension of Pa59-4 suppressed by 40 to 50% garlic blue mold. Above results suggest that Pa59-4 be a promising control agent against garlic blue mold.

Establishment of Tannin Enhancement Conditions for Development of High Quality Wild Grape Wine (고품질 산머루 와인 제조를 위한 Tannin 강화 조건 확립)

  • Park, Mi-Hwa;Lee, Jeong-Ok;Kim, Eun-Jung;Kim, Jong-Won;Lee, Hyo-Hyung;Kim, Hui-Hun;Lee, Sang-In;Kim, Young-Hun;Ryu, Chung-Ho
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.37 no.7
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    • pp.921-926
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    • 2008
  • Wild grapes contain lots of organic acids, vitamins and inorganic salts compared to other fruits. Also, it has known to have excellent effects on preventing cancer and heart disease. Wild grapes are supposed to be superior material for fermentation of wine. Tannin contents of wine, which is an important functional factor in flavor of wine, were enhanced to develop quality of Korean wild grape wine. In this study, we investigated tannin extraction conditions and analyzed quality properties of tannin-enhanced wild grape wine. The most suitable tannin extraction condition for enhancing tannin of wild grape wine was extraction of tannin from green tea using spirits at 4oC. For producing high quality wild grape wine, added concentration and time of tannin extract were 6.5 mg/mL before wild grape wine fermentation. Tannin contents of tannin-enhanced wild grape wine was $7.4{\pm}0.05\;mg/mL$. Quality properties of tannin-enhanced wild grape wine fermented under optimized fermentation conditions were analyzed. pH, acidity and alcohol contents were $3.69{\pm}0.01$, $0.95{\pm}0.01%$ and $12.2{\pm}0.03%$, respectively. Total sugar, tannin, polyphenol and resveratrol contents of tannin-enhanced wild grape wine were $60.00{\pm}1.15\;mg/mL$, $79.50{\pm}0.55\;mg/mL$, $7.40{\pm}0.05\;mg/mL$ and $5.00{\pm}0.11\;mg/mL$, respectively showing significantly higher value than that of commercial wine. Production of high quality wild grape wine is expected with the establishment of optimum fermentation condition and tannin-enhancing process of wild grape wine.

Early Matured Pear Cultivar 'Supergold' with High Quality and Greenish-white Skin for Overseas Trade (조생종 고품질 녹백색 배 '슈퍼골드')

  • Kang, Sam-Seok;Kim, Yoon-Kyeong;Cho, Kwang-Sik;Jeong, Sang-Bouk;Hwang, Hea-Seong;Kim, Myung-Su;Shin, Il-Sheob;Shin, Yong-Uk;Won, Kyeong-Ho;Choi, Jang-Jeon
    • Horticultural Science & Technology
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    • v.29 no.6
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    • pp.645-650
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    • 2011
  • Pear cultivar 'Supergold' (Pyrus pyrifolia var. culta Nakai) was originated from the cross between 'Chuwhangbae' and 'Manpungbae' with the aims of improving the fruit quality of 'Chuwhangbae' cultivar at Pear Research Station of National Institute of Horticultural & Herbal Science, Rural Development Administration in 1994. 'Supergold' was preliminarily selected in 2002 and named in 2008. The tree shows a vigorous growth habit and semi-spread characters like as 'Manpungbae'. Furthermore, it has sufficient flowers and carries abundant pollen grains, so it can also be used as a pollinator. 'Supergold' is highly resistant to black leaf spot (Alternaria kikuchiana) in the field condition. The optimum harvest time is around Sep. 11th, which is ahead of 'Whangkeumbae' about 5 days in the harvest period. The fruit shape is oblate and fruit skin color is greenish-white at harvesting time. The average weight of fruit is 570 g, and the soluble solids content is $13.6\;^{\circ}Brix$. The flesh is very soft and juicy, and renders good eating quality. Shelf life is about 6 months under the cold storage condition. To determine the self-incompatibility (SI) genotype of 'Supergold' pear cultivar, it was crossed with other cultivars of which SI genotypes have already known. The result of cross-pollinations of 'Supergold' with other cultivars showed relatively high rates of fruit set from 64.5% to 91.0%, except for the cross with pollens of 'Nijisseiki' that represented only 28.8% of fruiting rate. Although sometimes the stigma of 'Supergold' crossed with 'Hayatama', 'Chojuro', and 'Nijisseiki' showed malformed pollen tube tips, 'Supergold' is generally supposed to have cross-compatibility with all other pollen donor cultivars. It is considered that the S-allele of 'Supergold' is $S_3S_4$, which is based on the result of PCR-RFLP.

Investigation on Factors Influencing the Quality of Life of Arthritis Patients (관절염환자의 삶의 질에 영향을 미치는 요인탐색)

  • Oh, Hyun Ja
    • Korean Journal of Adult Nursing
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    • v.12 no.3
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    • pp.431-451
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    • 2000
  • In this paper, I will examine the variables influencing the Quality of Life of arthritis patients and present basic materials which help arthritis patients have positive thinking in life and ultimately lead a satisfactory life. The subjects for this study are 231 inpatients and outpatients with arthritis living in J and K city in Chonbug Province. For the analysis of collected data I employed the SAS program. The variables for characteristics and the quality of life were analysed by descriptive statistics, T-test and ANOVA, and the relations among variables were analysed through Pearson Correlation; the Regression method was employed to predict the factors affecting quality of life. For the validity of reliance on measuring equipment Cronbach Alpha was used. The results of the study are as follows : (1) The mean score of quality of life of arthritis patients is 3.09(5 in the maximum). The general characteristics which affect the quality of life are age(F=5.13, p=0.0006), standard of education(F=6.49, p=0.0003), marriage status(F=7.77, p=0.0005), monthly pay(F=4.37, p=0.0020), medical benefits (F=4.85, p=0.0087), and supports(F=4.39, p=0.0050). For the disease-related characteristics, there is a significant difference in the 6 items: pain control method(F=5.92, p= 0.0002), physical therapy(F=3.25, p=0.013), whethere or not patients exercise(F=4.62, p=0.0000), regularity of exercise(F=4.79, p=0.0000), frequency of exercise(F=6.29, p=0.0001), and amount of exercise(F=4.62, p=0.0043). Depending on the type of arthritis, there is also a significant difference in the degree of pain felt. The patients with infectious arthritis suffer from pain the most, followed by those with gout, rheumatism and degenerative arthritis, in that order. Although statistics don't show any convincing evidence, those with gout perceive that they are in best health condition, followed by those with rheumatism, degenerative arthritis, and infectious arthritis, in that order(F=2.23, p=0.0669). (2) The quality of life of arthritis patients is correlated positively with perceived health status(r=0.56, p=0.0001), health promoting behavior(r=0.53, p=0.0001), family support (r=0.46, p=0.0001), amount of exercise (r=0.36, p=0.0001), ADL(r=0.36, p=0.0001), HLOC(r=0.32, p=0.0001), frequency of exercise(r=0.32, p=0.0001)in that order, while correlated negatively with the degree of pain felt(r=-0.32, p=0.0001), the number of pain regions(r=-0.19, p= 0.0041), and the duration of pain(r=-0.14, p=0.0279). (3) Regression analysis reveals that the most powerful predictor of the quality of life is perceived health status, which account for 31.11%. The other predictors of the quality of life, which account for 60.22%, are health promoting behavior(16.51%), family support(3.81%), ADL(2.52%), gender(1.86%), the number of family members(1.36%), level of pain(1.24%), duration of pain (1.08%), and level of education(0.67%). The results of the study show that perceived health status and health promoting behavior are the two most important variables. However, considering that the perceived health condition is difficult to control by nursing intervention, it is suggested that the level of expectation for patients, must be decided first, and the health promoting behavior and the family support influencing the quality of life must be taken into account as targets for nursing intervention. As a way of controlling the quality of life, I think that a more comprehensive approach comprising the above important variables along with demographic and general characteristics is needed. I also suggest that we must continue to explore the variables affecting the quality of life and include those variables in nursing intervention.

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