• 제목/요약/키워드: Genetic Therapy

검색결과 346건 처리시간 0.026초

Growth Hormone Therapy in Children with Prader-Willi Syndrome

  • Im, Minji
    • Journal of mucopolysaccharidosis and rare diseases
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    • 제5권1호
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    • pp.34-38
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    • 2021
  • Prader-Willi syndrome is a complicated genetic disorder caused by a mutation on chromosome 15q11-13. The disease results in morbid obesity due to hyperphagia, growth disturbance, multiple endocrine problems from hypopituitarism, developmental delay, and cognitive or behavioral problems. Recombinant human growth hormone has been used to improve body composition and muscle mass, which plays a main role in treating patients with Prader-Willi syndrome. We describe previous studies showing the efficacy and safety of growth hormone treatment in children with Prader-Willi syndrome and provide treatment guidelines. Growth hormone therapy could be beneficial for children with Prader-Willi syndrome and improve their quality of life.

유전자 교정 기술의 생의학적 응용 (Biomedical Application of Gene Editing)

  • 박주찬;장현기
    • 산업기술연구
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    • 제42권1호
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    • pp.29-36
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    • 2022
  • The CRISPR system has revolutionized gene editing field. Cas9-mediated gene editing such as Indel induction or HDR enable targeted gene disruption or precise correction of mutation. Moreover, CRISPR-based new editing tools have been developed such as base editors. In this review, we focus on gene editing in human pluripotent stem cells, which is principal technique for gene correction therapy and disease modeling. Pluripotent stem cell-specific drug YM155 enabled selection of target gene-edited pluripotent stem cells. Also, we discussed base editing for treatment of congenital retina disease. Adenine base editor delivery as RNP form provide an approach for genetic disease treatment with safe and precise in vivo gene correction.

乾癬에 對한 東.西醫 文獻的 硏究 (The Oriental and Occidental bibliographic Study of Psoriasis)

  • 김남권;황충연;임규상
    • 한방안이비인후피부과학회지
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    • 제12권1호
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    • pp.154-178
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    • 1999
  • Psoriasis is the recurrent disease of skin and till now its mechanism, pathogenesis and treatment are not clearly discovered. So, like these papers, we must investigate more safety and effective treatment of psoriasis. And I obtained the following condusions from the Oriental and Occidental bibliographic investigation. 1. In Oriental medicine. Baikbi, Pungsun, Eunselbyong, Songpisun, Baikselpung were the other names of Psoriasis. 2. In Occidental medicine, genetic factors, aggravation and inducible factors, biochemical factors, immunologic factors, disorder of epidermal kinetics, vascular malformation of dermis were cosidered to the pathogenic factors of psoriasis. 3. In Oriental medicine, the pathogenic factors of psoriasis were divided two parts. One is exogenous pathogenic factors which including the blood-heat, blood dryness, blood stasis, deficiency of liver and kidney, inharmony of impulsive and appointed pulsation, deficiency of blood. The other is exogenous pathogenic factors which including the wind-evil, wind-wetness, wind-heat, wind-cold, wetness-heat, cold-wetness, heat-evil. 4. In Occidental medicine, external applicative medicine, internal medicine, ultraviolet therapy, ultraviolet - external applicative medicine compound therapy and etc. were used the therapy of psoriasis. 5. In Oriental medicine, clean away heat and cooling blood, aliment the blood and moisturize, activating blood and expelling blood stasis, harmonize and invigorate the liver and kidney, invigorate the kidney, aliment the blood and moisturize the skin, aliment the blood and expelling the wind, expelling the wind and wetness, clean away heat and expelling wind, expelling the wind and scatter the cold, clean away heat and expelling the wetness, heat up the meridian and scatter the cold, clean away heat and remove the toxin and etc. were used the method of internal therapy of psoriasis. 6. Until Qing dynasty, wind expelling effective prescriptions like Bangpungtongsungsan, Sopungsan. Supungsunkisan and etc. were used and recently Yanghyelgeupungtang, Hwalhyelgeupungtang, Samultanggagam and etc. were used the internal therapy of psoriasis. 7. In the external therapy of psoriasis, Yuhonggo, Pungyugo, Sekryupiyeongo were used the plaster therapy and Folium Rerillae, Camphora, Fructus, Xanthii, Herba Spirodelae compound prescription were used the cleansing therapy, Okgisan, Chiunsan, Galmyogo, Hobunsan, Muisan, Madugo, Jeyugohengin were used the rubbing skin therapy. Rangdok Radix Aconiti, Bijeonilchoalkwang were used the attaching therapy, the extract of Rhizoma Et Radix Veratri was used the spreading pouder therapy. 8. In the acupuncture therapy of psoriasis, the Jelgol, chok Samni(S36), Kansa(P5), Haegye(S41), Wijung(B40) and etc. were used the acupuncture point, and the angle of helix incision threapy that disinfect and cut the angle of helix and plaster the Semen Glycine and Squama Manitis were used.

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유전자치료를 위한 벡터 개발의 연구 동향 (Gene Therapy Vectors: A Current Research Insight)

  • 손은화;손은수;표석능
    • Journal of Pharmaceutical Investigation
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    • 제34권5호
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    • pp.351-362
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    • 2004
  • The basic concept underlying gene therapy is that human diseases may be treated by the transfer of genetics material into specific cells of a patient in order to correct or supplement defective genes responsible for disease development. There are several systems that can be used to transfer foreign genetic material into the human body. Both viral and non-viral vectors are developed and evaluated for delivering therapeutic genes. Viral vectors are biological systems derived from naturally evolved viruses capable of transferring their genetics materials into host cells. However, the limitations associated with viral vectors, in terms of their safety, particularly immunogenecity, and their limited capacity of transgenic materials, have encouraged researchers to increasingly focus on non-viral vectors as an alternative to viral vectors. Although non-viral vectors are less efficient than viral ones, they have the advantages of safety, simplicity of preparation and high gene encapsulation capability. This article reviews the most recent studies highlighting the advantages and the limitation of gene delivery systems focused on non-viral systems compared to viral systems.

Glyco-engineering strategies for the development of therapeutic enzymes with improved efficacy for the treatment of lysosomal storage diseases

  • Oh, Doo-Byoung
    • BMB Reports
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    • 제48권8호
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    • pp.438-444
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    • 2015
  • Lysosomal storage diseases (LSDs) are a group of inherent diseases characterized by massive accumulation of undigested compounds in lysosomes, which is caused by genetic defects resulting in the deficiency of a lysosomal hydrolase. Currently, enzyme replacement therapy has been successfully used for treatment of 7 LSDs with 10 approved therapeutic enzymes whereas new approaches such as pharmacological chaperones and gene therapy still await evaluation in clinical trials. While therapeutic enzymes for Gaucher disease have N-glycans with terminal mannose residues for targeting to macrophages, the others require N-glycans containing mannose-6-phosphates that are recognized by mannose-6-phosphate receptors on the plasma membrane for cellular uptake and targeting to lysosomes. Due to the fact that efficient lysosomal delivery of therapeutic enzymes is essential for the clearance of accumulated compounds, the suitable glycan structure and its high content are key factors for efficient therapeutic efficacy. Therefore, glycan remodeling strategies to improve lysosomal targeting and tissue distribution have been highlighted. This review describes the glycan structures that are important for lysosomal targeting and provides information on recent glyco-engineering technologies for the development of therapeutic enzymes with improved efficacy. [BMB Reports 2015; 48(8): 438-444]

Characterization of Phage-Resistant Strains Derived from Pseudomonas tolaasii 6264, which Causes Brown Blotch Disease

  • Yun, Yeong-Bae;Han, Ji-Hye;Kim, Young-Kee
    • Journal of Microbiology and Biotechnology
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    • 제28권12호
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    • pp.2064-2070
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    • 2018
  • Pseudomonas tolaasii 6264 is a representative strain that causes bacterial blotch disease on the cultivated oyster mushroom, Pleurotus ostreatus. Bacteriophages are able to sterilize the pathogenic P. tolaasii strains, and therefore, they can be applied in creating disease-free mushroom cultivation farms, through a method known as "phage therapy". For successful phage therapy, the characterization of phage-resistant strains is necessary, since they are frequently induced from the original pathogenic bacteria in the presence of phages. When 10 different phages were incubated with P. tolaasii 6264, their corresponding phage-resistant strains were obtained. In this study, changes in pathogenic, genetic, and biochemical characteristics as well as the acquired phage resistance of these strains were investigated. In the phylogenetic analyses, all phage-resistant strains were identical to the original parent strain based on the sequence comparison of 16S rRNA genes. When various phage-resistant strains were examined by three different methods, pitting test, white line test, and hemolytic activity, they were divided into three groups: strains showing all positive results in three tests, two positive in the first two tests, and all negative. Nevertheless, all phage-resistant strains showed that their pathogenic activities were reduced or completely lost.

흙 놀이를 통한 유아자폐증치료과정 연구 (Research of Education Program for Autistic Children the Clay)

  • 김성민
    • 한국콘텐츠학회논문지
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    • 제9권3호
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    • pp.91-98
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    • 2009
  • 복잡하고 빠르게 돌아가는 현대사회의 사회적 대상관계의 특징은 개인주의 팽배와 획일적 인간 관계속의 주체성 상실 등을 들 수 있다. 이러한 구조상의 무관심속에 아동들은 혼자서 텔레비전을 보거나 컴퓨터에 빠져 지내는 경우가 늘어나고 있다. 또한 어머니들의 과보호, 불규칙적인 양육태도, 정서적 외상 및 유전적 영향으로 인해 아동기 정신 발달 장애 빈도가 높아지고 있는 추세이다. 이러한 추세에 발맞추어서 미술치료에 대한 연구와 사례들이 많이 발표되고 있으며 미술치료의 중요성이 대두되고 있다. 이에 본 연구에서는 가장 인간과 밀접한 관계가 있는 자연 매체인 점토를 통한 치료가 발달 장애(자폐아)를 가지고 있는 아동에게 미치는 영향과 효과에 대하여 고찰해보고 또한 점토치료가 이러한 장애를 가진 아동들의 사회적 대상관계와 정화작용의 발전에 미치는 영향에 대해 제시하며 이를 바탕으로 생기는 시너지 (Synergy Effect) 효과와 이러한 효과를 극대화 시킬 수 있는 교육 프로그램 개발 연구에 대해서 제시하려한다.

외부활동에 따른 자외선 노출이 피부에 미치는 영향 연구 -피부물리치료를 위한 기초 연구- (A study on the effect of UV exposure on the skin due to external activities)

  • 이광재;최영인
    • 대한물리치료과학회지
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    • 제21권1호
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    • pp.37-43
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    • 2014
  • Background : The purpose of this study is to verify the type of influence on the skin color according to the photoaging symptoms depending on the degree of external activities among the factors that influence the skin due to UV exposure and to obtain the basic study data on the physical therapy of the skin. Methods : In this study, in order to investigate the type of influence on the skin color according to the photoaging symptoms when the body is exposed to the UV rays having various effects on our body, a study was conducted using questionnaires and skin color measurement tool targeting 20 male college soccer students with many external activities and the senior high school students who has relatively less external activities due to the preparation for college entrance. The skin color was measured and the results were compared. Result : In the test group having relatively higher external activities, while they had less use of the sunscreen, they had more degree of UV exposure, and for the recognition of ultraviolet hazard, more were aware that it was harmful. In addition, in the skin color measurement test conducted targeting the son and the father in order to investigate the association between the skin color and the genetic factors, the experimental group showed a significant difference(p<.05) but the control group did not show any significant difference(p>.05). Conclusion : Based on such study results, the UV exposure time and the use of sunscreen are thought to be an important factor in the skin care.

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외측 쐐기 깔창이 골관절염 환자의 내반슬에 미치는 영향에 관한 고찰 (A Review of Effects of Osteoarthritic Patient with a Varus Deformity of the Knee on Laterally Wedged Insole)

  • 이상용;신형수;배정수
    • 대한정형도수물리치료학회지
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    • 제11권1호
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    • pp.65-73
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    • 2005
  • Osteoarthritis has been considered a disease of the elderly because it is uncommon before the age of 40 years and is seen in approximately 80% of United States citizens older than 65 years. general population on kuri city in korea revealed that prevalence of knee osteoarthritis is 10.2%, increasing with age. High level of physical activity in men and age, post-menopause and obesity in women can be risk factor. Osteoarthritis is no evidence that a acquired process initiated much earlier in life through mechanical, metabolic, genetic, or other origins. A high tibial osteotomy alters static lower extremity alignment thereby decreasing medial compartment loading. As well, conservative treatment strategies, such as knee braces and valgus heel wedges, affect lover limb mechanics and attempt to reduce medial compartment loading. It was hypothesized that valgus heel wedges and modified orthoses would shift the center of pressure laterally on the foot during level walking, reducing the moment arm of the adduction moment in the frontal plane, thereby resulting in a decrease in the knee adduction moment. In the 1980s, the effect of wearing a laterally wedged insole on osteoarthritic patients with a varus deformity of the knee was firsted, and since then, kinematic and kinetic analyses concerning this condition have mainly focused on a static standing position. Since the early 1990s, the beneficial effect of wearing a laterally wedged insole to treat osteoarthritis of the knee has also been reported in dynamic conditions, but these studies did not answer the question of the kinematic and kinetic mechanisms that resulted in the reduced symptoms in patents with knee osteoarthritis. therefore, the effect of wearing laterally wedged insole has not been sufficiently studied.

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Effect of IL-1 Polymorphisms, CYP2C19 Genotype and Antibiotic Resistance on Helicobacter pylori Eradication Comparing Between 10-day Sequential Therapy and 14-day Standard Triple Therapy with Four-Times-Daily-Dosing of Amoxicillin in Thailand: a Prospective Randomized Study

  • Phiphatpatthamaamphan, Kittichet;Vilaichone, Ratha-korn;Siramolpiwat, Sith;Tangaroonsanti, Anupong;Chonprasertsuk, Soonthorn;Bhanthumkomol, Patommatat;Pornthisarn, Bubpha;Mahachai, Varocha
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권4호
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    • pp.1903-1907
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    • 2016
  • Background: Studies of effects of IL-1 polymorphisms, CYP2C19 genotype together with antibiotic resistance for H. pylori eradication are rare worldwide. The present study was designed to evaluate efficacy of 10-day sequential therapy (SQT) and 14-day standard triple therapy (STT) with four- times-daily dosing of amoxicillin for H. pylori eradication related to these important host and bacterial factors in Thailand. Materials and Methods: This prospective randomized study was performed during March 2015 to January 2016. H. pylori infected gastritis patients were randomized to receive 10-day sequential therapy and 14-day standard triple therapy. CYP2C19 genotyping, IL1 polymorphism (IL-1B and IL-1RN genotypes) and antibiotic susceptibility tests were performed in all patients. 13C-UBT was conducted to confirm H. pylori eradication at least 4 weeks after treatment. Results: A total of 100 patients (33 males and 67 females, mean age=51.1 years) were enrolled. Eradication rate by PP analysis was 97.9% (47/48) with the 10-day SQT regimen and 87.8% (43/49) with 14-day STT regimen (97.9% vs 87.8%; p-value=0.053). Antibiotic susceptibility testing demonstrated 45% resistance to metronidazole, 14.8% to clarithromycin, and 24.1% to levofloxacin. CYP2C19 genotyping revealed 44.9% RM, 49% IM and 6.1% PM. IL-1B and IL-1RN genotypes were demonstrated as 21.4% for CC, 48.1% for TC, 36.8% for TT, 72.7% for 1/1, and 21.2% for 1/2 genotypes, respectively. The 10-day SQT regimen provided 100% eradication in patients with clarithromycin or dual clarithromycin and levofloxacin H. pylori resistant strains. Moreover, the 10-day SQT regimen resulted in a 100% eradication rate in all patients with CYP2C19 genotype RM and almost type of IL-1B (TC and TT) and IL1-RN genotypes ( 1/2 and other). Conclusions: Treatment with 10-day sequential therapy is highly effective for H. pylori eradication regardless of the effects of clarithromycin resistance, dual clarithromycin and levofloxacin resistance, CYP2C19 genotype, IL-1B and IL1-RN genetic polymorphisms and can be used as effective first line therapy in Thailand.