• 제목/요약/키워드: Family Deficiency

검색결과 138건 처리시간 0.021초

말기암환자에서 혈중 비타민 D 농도와 생존기간과의 관련성 (Relationship between Vitamin D Level and Survival in Terminally III Cancer Patients)

  • 최선영;최윤선;황인철;이준영
    • Journal of Hospice and Palliative Care
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    • 제18권2호
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    • pp.120-127
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    • 2015
  • 목적: 국내 말기암환자를 대상으로 혈중 vitamin D 농도를 측정하고, 생존기간과의 관련성에 대하여 확인해 본다. 방법: 2012년 5월부터 15개월 동안, 국내 일개 병원의 말기암환자 96명을 대상으로 후향적 의무기록 조사를 시행하였다. Vitamin D 결핍에 영향을 미치는 요인들을 파악하기 위해 단순 로지스틱 회귀분석과 다중 로지스틱 회귀분석을 실시하였고, vitamin D가 생존기간에 미치는 영향을 파악하기 위해 다변수 분석으로 Cox's proportional hazard regression analysis를 실시하였다. 결과: 대상자의 평균 연령은 $67.06{\pm}13.77$세였고, 모든 대상자가 ECOG PS 3점 이상이었으며 혈중25(OH)D 농도는 평균 $8.60{\pm}7.16ng/ml$였다. 3명(3.1%)만이 vitamin D 충분상태(혈중 25(OH)D 농도${\geq}30ng/ml$)였으며, 5명은 vitamin D 상대적결핍상태(혈중 25(OH) 농도 20~30 ng/ml)였고, 13명(13.5%)은 vitamin D 결핍(혈중 25(OH)D 농도 10~20 ng/ml), 75명(78.1%)은 vitamin D 중증결핍상태(혈중 25(OH)D<10 ng/ml) 였다. 혈중 빌리루빈 농도가 1.2 mg/dl 이상인 경우 vitamin D 중증결핍과 관련이 있었다(Odds ratio, OR=5.041; P=0.039). 혈중 빌리루빈 농도가 높을수록 혈중 vitamin D 농도가 낮았으며, 고빌리루빈혈증인 환자는 vitamin D 중증결핍에 속할 위험이 더 크고(OR=18.476, P<0.05), 중앙생존기간도 유의하게 짧았다. Vitamin D 중증결핍인 경우 추정된 중앙생존기간은 짧았으나 통계적 유의성은 없었다. 다변량 분석결과에서 vitamin D 중증결핍은 사망의 위험인자가 아니었다. 결론: 말기암환자에서 혈중 vitamin D 결핍은 매우 심각하였으나, vitamin D 중증결핍이 생존기간에 영향을 미치지는 않았다.

돌연변이 Mannose-binding Lectin 합성과 세포 병리적 연구 (Synthesis and Secretion of Mutant Mannose-Binding Lectin)

  • 장호정;정경태
    • 생명과학회지
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    • 제23권3호
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    • pp.347-354
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    • 2013
  • 선천성 면역은 감염성 매개체를 자기(self)로부터 변별할 수 있다. 선천성 면역은 감염 초기에 숙주인 자기를 보호하는 인식분자와 효과인자들로 구성되어 있다. Mannose 결합 렉틴(Mannose-binding lectin, MBL)은 $Ca^{2+}$ 의존형 렉틴에 속하며, 콜라겐 유사 domain을 함유하는 C-type 렉틴으로 선천성 면역의 중요한 분자이다. 혈액내 낮은 MBL 농도는 면역결핍 증후군을 나타내며 감염에 대한 심각한 위험성을 초래한다. 사람의 MBL 결핍증은 coding 영역의 돌연변이에 의해 나타나며, 이 돌연변이의 영향을 연구하기 위해 쥐의 상동성 유전자인 MBL-A를 이용하고 있다. 돌연변이 MBL의 기능적, 세포 생리적 연구를 위해 선행연구에서 rat wild type MBL-A 유전자를 클로닝하였으며, 본 연구에서 이 유전자에 콜라겐 유사 domain에서 발견된 세 가지 돌연변이, R40C, G42D, G45E를 site-directed mutagenesis 방법으로 모두 도입하였다. 세 가지 돌연변이가 존재하는 MBL 단백질은 정상 MBL과 마찬가지로 세포 내에서 정상적으로 발현되었으며, 여전히 렉틴 기능을 가지고 있었다. 이는 세 가지 돌연변이가 렉틴 기능을 나타내는 C-말단 쪽의 carbohydrate recognition domain에는 구조적으로, 또한 기능적으로도 영향을 미치지 않는다는 결과이다. 그러나 이 돌연변이는 MBL 단백질이 세포 밖으로 분비되는 것을 방해하였으며, 그 결과로 소포체 내에 잔류하여 소포체 망상구조(endoplasmic reticulumn network)에 커다란 손상을 주며 비정상적인 형체를 초래하였다. 이 같은 결과는 돌연변이 MBL에 의해 나타난 세포 내 병리현상의 새로운 발견으로 향후 MBL의 구조 형성과 분비 연구에 기여를 할 것으로 생각된다.

Deletion of GSTM1 and T1 Genes as a Risk Factor for Development of Acute Leukemia

  • Dunna, Nageswara Rao;Vure, Sugunakar;Sailaja, K.;Surekha, D.;Raghunadharao, D.;Rajappa, Senthil;Vishnupriya, S.
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권4호
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    • pp.2221-2224
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    • 2013
  • The glutathione S-transferases (GSTs) are a family of enzymes involved in the detoxification of a wide range of chemicals, including important environmental carcinogens, as well as chemotherapeutic agents. In the present study 294 acute leukemia cases, comprising 152 of acute lymphocytic leukemia (ALL) and 142 of acute myeloid leukemia, and 251 control samples were analyzed for GSTM1 and GSTT1 polymorphisms through multiplex PCR methods. Significantly increased frequencies of GSTM1 null genotype (M0), GSTT1 null genotype (T0) and GST double null genotype (T0M0) were observed in the both ALL and AML cases as compared to controls. When data were analyzed with respect to clinical variables, increased mean levels of WBC, Blast %, LDH and significant reduction in DFS were observed in both ALL and AML cases with T0 genotype. In conclusion, absence of both GST M & GST T might confer increased risk of developing ALL or AML. The absence of GST enzyme might lead to oxidative stress and subsequent DNA damage resulting in genomic instability, a hallmark of acute leukemia. The GST enzyme deficiency might also exert impact on clinical prognosis leading to poorer DFS. Hence GST genotyping can be made mandatory in management of acute leukemia so that more aggressive therapy such as allogenic stem cell transplantation may be planned in the case of patients with a null genotype.

Molecular characterization and prenatal molecular evaluation of three fetuses in four unrelated Korean families with Lesch-Nyhan syndrome

  • Yoo, Han-Wook;Kim, Gu-Hwan
    • Journal of Genetic Medicine
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    • 제2권1호
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    • pp.17-22
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    • 1998
  • The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management of the patients with the Lesch-Nyhan syndrome is frustrating and requires burdensome medical treatment since it cripples the patient and shortens the life span by progression of neurological symptoms, but there are no cures or measures for relieving relentless natural course of the disease yet. Therefore, prenatal diagnosis of the affected fetus is important in genetic counselling for the family at high risk. In this study, four different mutations in the HPRT gene of four probands have been identified in four unrelated families; K215X, Q109X, nt.631 ${\Delta}A$, and nt.289 ${\Delta}GT$. Two mutations among them altered restriction enzyme sites; SpeI for Q109X and MaeI for nt.289 ${\Delta}GT$. Based on their molecular defects, prenatal diagnoses of 3 the fetuses were successfully made between ninth and eleventh week of gestation by polymerase chain reaction (PCR), restriction digestion and DNA sequencing using cDNA obtained from chorionic villus samples (CVS). We predicted the outcome of all fetuses prenatally. Among the three fetuses two were male and one was female according to the identification made by PCR amplification of the sex determining region of the Y chromosome(SRY) gene. Each carried a wild type allele for the corresponding mutant allele. They were also tested postnatally for the mutations to be unaffected.

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주주집단소송의 대체수단으로서의 중재 (Arbitration as a Means to Replace Shareholder Class Action)

  • 김연호
    • 한국중재학회지:중재연구
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    • 제11권1호
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    • pp.75-93
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    • 2001
  • The advantages of arbitration such as promptness, economy and flexibility apply to the disputes arising from corporate governance between shareholders and a corporation. The confidentiality of arbitration can be particularly highlighted in the disputes among the members inside corporation. But it appears that the shareholders believe litigation the best way to pursue liabilities of managers of corporation and improve the system of corporate governance. And it is claimed that the current litigation system lacks the implementation of shareholders rights due to structural deficiency and therefore need bring class actions into the system of Korean jurisprudence. The OECD, which afforded the rescue finances to Korea, also recommended shareholder class actions as a way to improve corporate governance. Class actions have merits but even advanced countries consider the changes of existing system or only stay class actions in the stage of discussion. Rather, legal experts urge arbitration to be used more frequently and the Courts also approved the dispute resolutions of the disputes as to corporate governance through arbitration. There is no report in Korea that arbitration was used to resolve the disputes between shareholders and the managers, or between shareholders and corporation, which is listed in the Stock Market. There only are the debates for bring class actions into the judicial system between NGOs and the organizations of corporate managers. But arbitration has greater advantages in resolving the disputes among the members of corporation that any other methods for dispute resolution. Arbitration can interpret flexibly the mandatory provisions of the Statutes of Security and the Code of Commerce to meet the needs of parties involved, which is not possible to the Courts. Arbitration can issue the award to meet the equity of the parties. And arbitration can avoid a resolution of All or Nothing by fully considering the specific situations of Korean corporations(such as family-dominated management) and can issue the award beneficial to all parties of shareholders, managers and corporation. Thus it should be sought to resolve the disputes as to corporate governance through arbitration.

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Differential Localisation of PARP-1 N-Terminal Fragment in PARP-1+/+ and PARP-1-/- Murine Cells

  • Rajiah, Ida Rachel;Skepper, Jeremy
    • Molecules and Cells
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    • 제37권7호
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    • pp.526-531
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    • 2014
  • Human PARP family consists of 17 members of which PARP-1 is a prominent member and plays a key role in DNA repair pathways. It has an N-terminal DNA-binding domain (DBD) encompassing the nuclear localisation signal (NLS), central automodification domain and C-terminal catalytic domain. PARP-1 accounts for majority of poly-(ADP-ribose) polymer synthesis that upon binding to numerous proteins including PARP itself modulates their activity. Reduced PARP-1 activity in ageing human samples and its deficiency leading to telomere shortening has been reported. Hence for cell survival, maintenance of genomic integrity and longevity presence of intact PARP-1 in the nucleus is paramount. Although localisation of full-length and truncated PARP-1 in PARP-1 proficient cells is well documented, subcellular distribution of PARP-1 fragments in the absence of endogenous PARP-1 is not known. Here we report the differential localisation of PARP-1 Nterminal fragment encompassing NLS in PARP-$1^{+/+}$ and PARP-$1^{-/-}$ mouse embryo fibroblasts by live imaging of cells transiently expressing EGFP tagged fragment. In PARP-$1^{+/+}$ cells the fragment localises to the nuclei presenting a granular pattern. Furthermore, it is densely packaged in the midsections of the nucleus. In contrast, the fragment localises exclusively to the cytoplasm in PARP-$1^{-/-}$ cells. Flourescence intensity analysis further confirmed this observation indicating that the N-terminal fragment requires endogenous PARP-1 for its nuclear transport. Our study illustrates the trafficking role of PARP-1 independently of its enzymatic activity and highlights the possibility that full-length PARP-1 may play a key role in the nuclear transport of its siblings and other molecules.

Mannose-binding lectin의 선천성 면역과 질병에 대한 역할 (Roles of Mannose-Binding Lectin on Innate Immunity and Disease)

  • 장호정;박정혜;정경태
    • 생명과학회지
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    • 제20권9호
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    • pp.1420-1425
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    • 2010
  • 선천성 면역이란 감염성 질환에 대응하는 분자들의 네트워크가 반응하는 숙주의 첫 번째 방어 메카니즘이다. 간에서 만들어져 혈액에 존재하는 Mannose-binding lectin (MBL)은 선천성 면역에 관여하는 단백질군인 collectin에 속하는 분자로서 감염성 질병을 유발하는 다양한 세균, 바이러스, 효모, 곰팡이 및 원생동물의 표면에 존재하는 특징적인 당쇄를 인식한다. 이런 감염성 인자들의 표면에 드러난 당쇄의 공통적인 패턴을 MBL이 인식하여 자기(self)와 비자기(non-self)를 구분하기 때문에 MBL을 패턴 인식 분자(pattern recognition molecule)라고 한다. MBL은 MBL2 유전자에 의해 만들어지며, MBL2 유전형은 여러 가지 다형성(polymorphisms)이 있는 것으로 나타났다. MBL2 유전자의 변이는 상당히 많은 사람에서 나타나며, MBL 결여의 원인이다. MBL 결여는 감염성 질환에 대한 감수성을 증가시키므로, MBL의 유전적 변이와 임상적 중요성에 대해 많은 연구가 진행 되어져 왔다. 이 총설은 현재 우리가 알고 있는 MBL의 구조와 기능에 대해 전반적으로 논의하고자 한다.

비후성 심근병증으로 발현된 비전형적 영아형 폼페병 2례 (Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy)

  • 김은희;고정민;이범희;김구환;최진호;유한욱
    • Journal of Genetic Medicine
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    • 제6권2호
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    • pp.161-165
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    • 2009
  • 폼페병은 상염색체 열성으로 유전되는 질환으로 GAA 효소의 결핍에 의해 심장과 골격근 조직의 라이소좀과 세포질에 당원이 축적된다. 전형적 영아형 폼페병은 심비대, 호흡부전, 근긴장 저하가 발생하고, 대부분 심폐 부전이나 호흡기 감염으로 1-2세 경에 사망에 이른다. 비전형적 영아형은 상대적으로 임상 양상이 경하고 진행이 느리다. 저자들은 영아기에 심근병증을 진단받고 서서히 근위부 근력의 약화가 진행되었던 남매에서 근생검, 효소 활성도 분석 및 GAA 유전자 분석으로 확진된 비전형적 영아형 폼페병을 경험하였기에 보고하는 바이다.

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Knowledge and Attitudes of Medical and Non-Medical Turkish University Students about Cervical Cancer and HPV Vaccination

  • Borlu, Arda;Gunay, Osman;Balci, Elcin;Sagiroglu, Mehmet
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권1호
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    • pp.299-303
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    • 2016
  • Background: This study was conducted to determine knowledge, attitudes and practices about cervical cancer and HPV vaccination of students studying in various faculties of Erciyes University. Materials and Methods: The study was performed among the first and fourth grade students of Medicine, Theology, Education and Economics and Administrative Sciences (FEAS) faculties of Erciyes University. It was aimed to reach 1,073 students and 718 were evaluated. A questionnaire consisting of 48 questions related to the socio-demographic characteristics, knowledge, attitude and practices about cervical cancer and HPV vaccination was administered to the students. The chi-square test and logistic regression were used for the statistical analyses. Results: Of the students, 78.3% were aware of cervical cancer, while 36.1% of them were aware of the HPV vaccine. The percentage hearing about cervical cancer and HPV vaccination was significantly higher among the students of the medical faculty than the others and among fourth grade students comparing with the first grade. The marital status and the presence of a health worker in the family had no significant impact on the knowledge level of the students. The acceptability of the HPV vaccination was low among all students. Conclusions: The knowledge levels of the university students about cervical cancer and HPV vaccination are inadequate. This deficiency is more pronounced among the non-medical students and there is no significant increase during the faculty years. Non-medical students must be provided with information about important public health issues by elective courses. HPV vaccination could provide many benefits for men and women by decreasing the morbidity and mortality of cervical, anal, and penile cancers.

병원 성인 환자의 경관급식에 관한 연구 (A Study on Tube Feeding Practices of Adult In-patients)

  • 한경희
    • Journal of Nutrition and Health
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    • 제25권7호
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    • pp.668-683
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    • 1992
  • To evaluate the current practices of the tube feeding and the status of tube feeding patient 76 adult in-patients at 6 hospitals located in Seoul and Chung-buk province were examined through reviewing patient charts observing patients and interviewing patients nurses dietitians patients' family or care-givers. The results were as follows : 1) An average age of the patients was 54.5 years with 41% over 60 years old. Patients with decreased mental status dysphagia esophageal obstruction and respiratory problem were fed by tubes. 2) The range of duration of tube feeding is between 4 days and 6 years. Most patients were received formula through nasogastric tube(89.5%) while 7.9% of gastrostomy and 2.6% of jejunostomy. Administration method for formula were bolus feeding regardless of the route of formula delivery. 3) Mean total calories received for men were 1590 kcal and 1450 kcal for female. Mean volume per meal was 282m, l and mean frequency of feeding was 5.68 while mean feeding interval 3$\frac{1}{4}$ hours and mean rate of infusion 68.4ml/min. All patients received hospital-blenderi-zed formula as the major source of nutrition. Home-blenderized formula and commercial formula as a supplement were used 35%, 13.2% respectively. 4) Thirty-eight percent of patients was hypoalbuminemia and 61% was at the moderate level of deficiency in hemoglobin. 5) Complications associated with tube feeding were diarrhea (22.4%) constipation(21.1%) vomiting(11.8%) and so on. 6) Serum albumin levels of patients who have complications associated with tube feeding were significantly lower than those of patients without complications In planning a tube feeding regimen the type of a formula must be integrated with both a delivery system and a protocol for administering the tube feeding. the multidisciplinary effort required to deliver enteral therapy is essential to improve current practices used at hospitals.

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