• 제목/요약/키워드: Genetic Therapy

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Severe acute alcoholic hepatitis and liver transplant: A never-ending mournful story

  • Obed, Aiman;Bashir, Abdalla;Stern, Steffen;Jarrad, Anwar
    • 대한간학회지
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    • 제24권4호
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    • pp.358-366
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    • 2018
  • Severe acute alcoholic liver disease (SAAH) unresponsive to medical therapy shows one-year-mortality rates of up to 90%. Most transplant centers request six months of alcohol abstinence prior to transplantation, the so-called "6-month rule." This regulation is not based on strong evidence, repeatedly making it a topic of controversial debates. The majority of patients with SAAH will die before fulfilling the 6-month rule. Therefore, liver transplantation (LT) protocols are becoming more flexible towards the rigid abstinence regulation, especially concerning SAAH patients. We conducted a literature review regarding LT in SAAH and its outcomes, including post-transplant mortality and recidivism. We studied available data on PubMed from 2011 and onwards whilst including articles dealing with genetic components, medical therapy and historic snapshots of alcoholism. Emerging studies recommend LT in SAAH not responding to medical therapies even without realizing the required abstinence period, since the majority of these patients would die within 6 months. SAAH without response to medical therapy has one-year-mortality rates of up to 90%. The 6-month rule is not based on strong evidence and is repeatedly a topic of controversial debates. There is genetic linkage to alcoholism and medical therapy is not as effective as estimated, yet. The 6-months-regulation has not shown to evidently decrease the risk of recidivism post-LT, which is a lifesaving treatment in SAAH patients. Insisting on rigid sobriety rules results in excluding patients with a low risk of recidivism from being transplanted. Moreover, the genetic linkage of alcoholism must be recognized.

Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

  • Lee, Seung Ryeol;Lee, Tae Ho;Song, Seung-Hun;Kim, Dong Suk;Choi, Kyung Hwa;Lee, Jae Ho;Kim, Dae Keun
    • Clinical and Experimental Reproductive Medicine
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    • 제48권4호
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    • pp.283-294
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    • 2021
  • A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

A Survey on the Current Working Conditions and Job Satisfaction on Aquatic Therapy Performed by Physical Therapists

  • Oh, Sejun;Jeon, Jin Yeong;Lee, Ji Hye;Hwang, Byong Yong;Yoon, BumChul;Nam, Hyoung Chun;Yeom, Jun Woo
    • The Journal of Korean Physical Therapy
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    • 제31권1호
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    • pp.40-48
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    • 2019
  • Purpose: This study assessed the current working conditions and job satisfaction on aquatic therapy performed by physical therapists in South Korea. Methods: A total of 139 (managers: 53, staff: 86) physical therapists participated in this survey (90 questionnaires) and the data were analyzed using the SPSS 21.0 Windows. Results: The retention conditions of aquatic therapy facilitation was high in the rehabilitation centers (or disabled living facilities) and rehabilitation hospitals. On the other hand, there were regional variations. The physical therapists in this field were likely to have limitations or restrictions of professional aquatic therapy education. The subjects showed a tendency for a career interruption during their fifth working year. The overall job satisfaction on aquatic therapy of physical therapists was high (managers: 94.3%, staff: 95.3%, p=0.276), but the work intensity was higher than the other parts of physical therapy and the relative reward was comparatively low (managers: 60.3%, staff: 66.3%, p=0.865). Conclusion: Based on this study, the current working conditions regarding aquatic therapy by physical therapists were assessed. These results will help enhance aquatic therapy and/or in aquatic therapy facilitation.

Enhanced Transduction of Cu,Zn-Superoxide Dismutase with HIV-1 Tat Protein Transduction Domains at Both Termini

  • Eum, Won Sik;Jang, Sang Ho;Kim, Dae Won;Choi, Hee Soon;Choi, Soo Hyun;Kim, So Young;An, Jae Jin;Lee, Sun Hwa;Han, Kyuhyung;Kang, Jung Hoon;Kang, Tae-Cheon;Won, Moo Ho;Cho, Yong Joon;Choi, Jin Hi;Kim, Tae Yoon;Park, Jinseu;Choi, Soo Young
    • Molecules and Cells
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    • 제19권2호
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    • pp.191-197
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    • 2005
  • The human immunodeficiency virus type 1 (HIV-1) Tat protein transduction domain (PTD) is responsible for highly efficient protein transduction across plasma membranes. In a previous study, we showed that Tat-Cu,Zn-superoxide dismutase (Tat-SOD) can be directly transduced into mammalian cells across the lipid membrane barrier. In this study, we fused the human SOD gene with a Tat PTD transduction vector at its N- and/or C-terminus. The fusion proteins (Tat-SOD, SOD-Tat, Tat-SOD-Tat) were purified from Escherichia coli and their ability to enter cells in vitro and in vivo compared by Western blotting and immunohistochemistry. The transduction efficiencies and biological activities of the SOD fusion protein with the Tat PTD at either terminus were equivalent and lower than the fusion protein with the Tat PTD at both termini. The availability of a more efficient SOD fusion protein provides a powerful vehicle for therapy in human diseases related to this anti-oxidant enzyme and to reactive oxygen species.

신약전달기술체계인 유전자 치료의 현재까지의 개발동향 (Current Status of Gene Therapy as a New Drug Delivery System)

  • 배윤성;조정윤;지상미;이영주
    • Journal of Pharmaceutical Investigation
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    • 제32권3호
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    • pp.153-159
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    • 2002
  • Gene therapy is fundamentally a sophisticated drug delivery technology to cure a disease by the transfer of genetic material to modify living cells. In other words, the gene is used as a therapeutic drug much like a chemical compound is employed in chemotherapy. Currently almost 600 clinical trials are underway worldwide since the first clinical trials carried out in 1990 to treat adenosine deaminase deficiency using retroviral vectors. Despite the great progress still is there no gene therapy product being approved as a new drug. This is partly due to a lack of an ideal gene delivery system that is safe and can provide stable, optimal level production of the therapeutic proteins in the cell. This review covers the current status of several different biological and physico-chemical agents that are being developed as gene delivery vehicles. Although gene therapy promises great hopes toward the cure of a broad spectrum of genetic and acquired diseases, the success of gene therapy heavily asks for the development of vector systems for safe and efficient application in humans.

Pharmacogenomics in Drug Discovery and Development

  • Ahn, Chul
    • Genomics & Informatics
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    • 제5권2호
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    • pp.41-45
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    • 2007
  • Pharmacogenomics is the study that examines how genetic variations affect the ways in which people respond to drugs. The ways people respond to drugs are complex traits that are influenced by many different genes. Pharmacogenomics intends to develop rational means of optimizing drug therapy, with respect to the patients' genotype, to maximize efficacy with minimal adverse drug reactions. Pharmacogenomics has the potential to revolutionize the practice of medicine, and promises to usher in an area of personalized medicine, in which drugs and drug combinations are optimized for each individual's unique genetic makeup. Indeed, pharmacogenomics is exploited as an essential step for target discovery and drug development in the pharmaceutical industry. The goal of the personalized medicine is to get the right dose of the right drug to the right patient at the right time. In this article, we will review the use of pharmacogenomics in drug discovery and development.

Anticancer Therapy for Breast Cancer Patients with Skin Metastases Refractory to Conventional Treatments

  • Varol, Umut;Yildiz, Ibrahim;Alacacioglu, Ahmet;Uslu, Ruchan
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권4호
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    • pp.1885-1887
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    • 2014
  • Skin metastases of breast cancer are usually late events in the course of tumor progression and signify a poor prognosis. They may remain as a therapeutic challenge especially after failure of standard treatments. Topical interventions, together with or without radiotherapy, may only palliate the symptoms temporarily. However, there may be alternative treatment modalities for unresectable breast cancer skin metastases resistant to chemotherapy and radiotherapy. There are various genetic alterations in tumors and therapeutic potential of expression patterns for factors like epidermal growth factor receptor may have important clinical implications in case of disease refractory to the conventional treatments. Here, we clarified the therapeutic options and genetic alterations in skin metastatic breast cancer patients refractory to standard chemotherapeutics.

Genetic variations affecting response of radiotherapy

  • Choi, Eun Kyung
    • Journal of Genetic Medicine
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    • 제19권1호
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    • pp.1-6
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    • 2022
  • Radiation therapy (RT) is a very important treatment for cancer that irradiates a large amount of radiation to lead cancer cells and tissues to death. The progression of RT in the aspect of personalized medicine has greatly advanced over the past few decades in the field of technical precision responding anatomical characteristics of each patient. However, the consideration of biological heterogeneity that makes different effect in individual patients has not actually applied to clinical practice. There have been numerous discovery and validation of biomarkers that can be applied to improve the efficiency of radiotherapy, among which those related to genomic information are very promising developments. These genome-based biomarkers can be applied to identify patients who can benefit most from altering their therapeutic dose and to select the best chemotherapy improving sensitivity to radiotherapy. The genomics-based biomarkers in radiation oncology focus on mutational changes, particularly oncogenes and DNA damage response pathways. Although few have translated into clinically viable tools, there are many promising candidates in this field. In this review the prominent mutation-based biomarkers and their potential for clinical translation will be discussed.

Atypical hemolytic uremic syndrome and eculizumab therapy in children

  • Kim, Seong Heon;Kim, Hye Young;Kim, Su Young
    • Clinical and Experimental Pediatrics
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    • 제61권2호
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    • pp.37-42
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    • 2018
  • Hemolytic uremic syndrome (HUS) is often encountered in children with acute kidney injury. Besides the well-known shiga toxin-producing Escherichia coli-associated HUS, atypical HUS (aHUS) caused by genetic complement dysregulation has been studied recently. aHUS is a rare, chronic, and devastating disorder that progressively damages systemic organs, resulting in stroke, end-stage renal disease, and death. The traditional treatment for aHUS is mainly plasmapheresis or plasma infusion; however, many children with aHUS will progress to chronic kidney disease despite plasma therapy. Eculizumab is a newly developed biologic that blocks the terminal complement pathway and has been successfully used in the treatment of aHUS. Currently, several guidelines for aHUS, including the Korean guideline, recommend eculizumab as the first-line therapy in children with aHUS. Moreover, life-long eculizumab therapy is generally recommended. Further studies on discontinuation of eculizumab are needed.

'포스트 게놈' 시대에서 간호학의 과제 (Nursing Genetics in 'Postgenome' Era)

  • 최스미
    • Journal of Korean Biological Nursing Science
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    • 제7권1호
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    • pp.5-14
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    • 2005
  • Since the Human Genome Project(HGP) has begun in the mid 1980s, the sequencing of the human genome has been finally completed in 2001. The knowledge developed from the HGP has revolutionized how health care professionals think about patient care, mandating a new paradigm of patient care in totally inconceivable ways from the past. For instance, the patients at risk for disease can be identified early enough for intervention; the medicine can be tailored for individual patients based on their own genetic information ; the gene therapy could be a common procedure in the near future. The advancement in genetics, therefore, requires the shift of paradigm not only in nursing education, practice, but also in nursing research. It is attempted, in this article to introduce briefly the basic knowledge of genetics, the pharmacogenomics, and the overview of national genetic research initiated and organized by the Center for Functional Analysis of Human Genome in Korea. The current state of nursing genetic knowledge and its implications on nursing education, practice, and research has examined. Furthermore, the visions and the opportunities for nursing science and practice to participate in this genetic revolution were also explored.

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