• 대한유전성대사질환학회지
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• 제12권1호
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• pp.42-48
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• 2012

폼페병은 GAA 유전자의 돌연변이로 인해 acid ${\alpha}$-glucosidase (GAA) 효소가 완전 혹은 부분적으로 결핍되어 발생하는 드문 리소좀 축적질환의 하나이다. 전형적인 영아형 폼페병은 다기관을 침범하여 빠르게 진행하는 질환으로, 근긴장도 저하, 전신적인 근력 감퇴 및 비후성 심근병증이 주된 임상 양상이며 치료를 받지 않으면 보통 1-2세경에 사망에 이르게 된다. 재조합 GAA 효소 대체 요법은 이러한 영아형 폼페병 환자에서 병의 진행 경과를 늦추고 예후를 호전시키는데 효과적임이 이미 확인되었다. 본 연구에서는 단일 기관에서 경험한 비후성 심근병증으로 발현된 혈연 관계가 없는 세 명의 한국인 폼페병 환자의 임상 양상 및 유전학적 양상과 더불어 단기간의 효소 대체 요법 효과를 보고하고자 한다. 효소 대체 요법이 도입된 이래 영아형 폼페병의 자연 경과가 매우 호전된 바, 보다 조기에 진단하여 효소 대체 요법을 시작하는 것이 환자의 예후를 호전시키고 합병증을 최소화하는데 결정적일 것으로 생각된다.

• 한방안이비인후피부과학회지
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• 제15권1호
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• pp.226-252
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• 2002

The results of a literature study about the comparison of Oriental-Occidental medicine on the Atopic dennatitis were as follows. 1. In Oriental medicine, Atopic dermatitis belongs to the category of the Naesun(내선), Taeryumchang(胎斂瘡), Eczema(濕疹), Chimumchang(浸淫瘡). In Occidental medicine, the other names of Atopic dermatitis are allergic eczema, IgE dermatitis, flexual eczema etc. 2. In Oriental medicine, the definition of atopic dermatitis includes chang(瘡), sun(선), and pung(風). Occidental medicine, is one of the intrinsic eczema classifications. In fact eczema term circumscribes dermatitis in atopic patients. 3. In Oriental medicine, the etiology and pathogenesis of Atopic dermatitis arose from the state of cogenital defect(稟賦不足), internal accumulation of damp and heat(濕熱內蘊) at first, and then invaded pathogenic wind, damp, heat factors again, and combined endo-exoteric pathogenic factors. So it appears in skin. In Occidental medicine, the etiology and pathogenesis of Atopic dermatitis approaches in genetic, allergic and immunologic, pharmacophysioloic aspects. It is only a hypothesis but there is no known facts about radical aetiology. 4. In Oriental medicine, differentiation of syndromes classifies manifestation aspects, etiology and pathogenesis, and invasion period. In Occidental medicine, it divides into an invasion period, and clinical aspect etc. 5. In Oriental medicine, Internal theraphys of Atopic dermatitis are decoction of ingredients(湯劑), pills(丸), and tablet(片). So, it prescribes as treatments on the ground of differentition of syndrome. In Occidental medicine, there is no radical therapy because Atopic dispositions don't change. But steroid, antihistamine as symptomatic tre atments are generally used in Occidental medicine. 6. In Oriental medicine, external therapies are wet dressings(濕敷), lotion(洗劑), powder(散劑), adhesive plasters(膏劑), oil(油劑), smoking(烟薰法), warm over fire therapy(熱烘療法), acupunture and moxibustion therapy(鍼灸療法).

• Journal of Genetic Medicine
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• 제13권2호
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• pp.72-77
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• 2016

Purpose: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat ($Zavesca^{(R)}$) was approved for the treatment of adults with GD type 1, for whom enzyme replacement therapy (ERT) is unsuitable or not a therapeutic option. In this study, we report the effect of miglustat ($Zavesca^{(R)}$) in three Korean GD patients. Materials and Methods: Clinical findings comprising age at diagnosis, presenting signs, laboratory findings at diagnosis, GBA activity and mutations, and clinical courses of the three patients were reviewed. Results: Miglustat was administered to three patients who reported allergic reactions during intravenous imiglucerase infusions. One patient withdrew after 15 months of miglustat administration owing to continuous elevation of disease biomarker levels (chitotriosidase, acid phosphatase, and angiotensin-converting enzyme). Poor adherence to medication was suspected but was denied by the patient. In the other two patients, platelet count and levels of hemoglobin and other biomarkers remained stable during miglustat administration. However, they suffered from severe diarrhea and weight loss, which led to miglustat discontinuation after 1 and 12 months of administration. Conclusion: Our study shows that although miglustat is suggested to GD patients as an alternative treatment to ERT, significant adverse reactions may lead to discontinuation of miglustat. In addition, it is difficult to monitor the drug adherence.

• Clinical and Experimental Pediatrics
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• 제62권6호
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• pp.224-234
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• 2019

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. Results: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. Conclusion: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

• Clinical and Experimental Pediatrics
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• 제50권2호
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• pp.213-217
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• 2007

Pompe 병(Glycogen storage disease type II)은 acid ${\alpha}$-glucosidase (GAA)의 결손에 의한 질환이며 열성으로 유전한다. 전신적인 근육약화와 비후성 심근병이 생긴 후 대개 1년 안에 사망하게 되는 영아기 발병형과 상대적으로 임상양상이 경한 후기 발병형이 있다. Pompe 병의 국내 보고는 드문 상태이나 최근 GAA 효소 보충 요법이 개발되어 임상적으로 시도 중이다. 저자들은 발병은 영아기에 있으나 비교적 임상증상이 심하지 않은 비전형적 영아형 Pompe 병을 진단받고 심한 간비대와 비후성 심근병증, 보행곤란의 증상을 보이던 4세 남아에게 재조합 인간 GAA 효소($Myozyme^{(R)}$, Genzyme Co., MA, USA) 치료를 하여 운동능력과 심기능의 현저한 호전을 경험하였기에 보고한다. 비전형적 영아형 Pompe 병에서는 ERT의 효과가 더욱 큰 것으로 생각되며 소아과의사들이 비전형적 Pompe 병 초기의 특징인 비음이나 동요성 보행같은 증상을 이해하고 있어 이를 빨리 진단하고 효소보충요법을 조기에 시행한다면 Pompe 병 환아의 예후를 호전시킬 수 있겠다.

• The Journal of Korean Physical Therapy
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• 제12권2호
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• pp.255-265
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• 2000

정상적인 골 조직에서의 성장과는 달리 연부조직에 2차적으로 비정상적인 골 조직이 신생되면서 골화되는 현상을 골화성 근염 또는 화골성 근염이라고 하며, 연부조직에 생긴 골은 가장 안쪽에는 어떤 원인에 의해서 생긴 출혈 또는 괴사 조직의 주위를 섬유모세포가 둘러싸서 생긴 층이 있고, 그 다음으로 골모세포(osteoblasts)로 형성된 미성숙 골조직 충이 있으며, 마지막 주위의 결합조직과 명확한 경계를 이루는 성숙한 골 소주로 구성된 층이 있다. 골화성 근염은 그 원인이 정확히 밝혀지지 않았으나. 혈류의 정체로 인한 저산소증, 비정상적인 칼슘 대사, 미세한 외상의 반복 및 심한 외상, 장기간 고정, 유전적인 원인 등으로 각기 다른 양상의 골화성 근염을 형성할 수 있다. 골화성 근염이라는 단어는 1868년에 Von Dusch에 의해 처음 사용되어 명확한 구분 없이 연부조직에 생긴 비정상 골조직을 일컫는 말로 사용되어져 왔다. 하지만 골화성 근염이라 할지라도 발생 원인과 조직 변화 및 상태 등을 고려한다면 첫째로 선천성 기형과 전신이환을 동반하는 진행성 골화성 근염, 둘째로 신경근과 만성질병, 사지마비, 소아마비, 화상. 다발성 관염 . 파상풍을 가진 환자에게서 발생하는 골화성 근염인 이소성 골화증, 새 번째로 연부조직의 심한 손상 또는 반복적인 손상, 골절, 탈구, 열상 외과적 절개에 대한 부차적인 반응으로 나타나는 외상성 골화성 근염. 네 번째로 위의 세 가지 원인이 아닌 원인으로 발생하는 비외상성 골화성 근염으로 분명히 구분할 수 있다. 때문에 단순히 골화성 근염이란 단어로 연부조직에 생긴 비정상적인 골을 통칭하기보다는 지금까지 언급한 내용을 고려해 보다 구체적인 질환명 즉 골화성 근염이 진행성인지. 이소성인지. 외상성인지. 비외상성인지를 명확히 구분하여 사용하는 것이 바람직하다.

• 한국군사과학기술학회지
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• 제27권1호
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• pp.116-125
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• 2024

The COVID-19 pandemic is not over despite the emergency use authorization as can see recent COVID-19 daily confirmed cases. The viruses are not only difficult to diagnose and treat due to random mutations, but also pose threat human being because they have the potential to be exploited as biochemical weapons by genetic manipulation. Therefore, it is inevitable to the rapid antibody-based therapeutic platform to quickly respond to future pandemics by new/re-emerging viruses. Although numerous researches have been conducted for the fast development of antibody-based therapeutics, it is sometimes hard to respond rapidly to new viruses because of complicated expression or purification processes for antibody production. In this study, a novel rapid antibody-based therapeutic platform using single B cell sorting method and mRNA-antibody. High immunogenicity was caused to produce antibodies in vivo through mRNA-antigen inoculation. Subsequently, antigen-specific antibody candidates were selected and obtained using isolation of B cells containing antibody at the single cell level. Using the antibody-based therapeutic platform system in this study, it was confirmed that novel antigen-specific antibodies could be obtained in about 40 days, and suggested that the possibility of rapid response to new variant viruses.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제15권2호
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• pp.63-73
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• 2012

Development of antiviral resistance to lamivudine is the most important factor for the treatment failure. It is necessary to establish proper guidelines to overcome drug resistance for children with chronic hepatitis B. Primary treatment with lamivudine should be considered if patients are in immune-clearance phase and have persistently elevated ALT levels more than twice the upper limit of normal value. Before initiating the therapy, careful consideration of the patient's status is required to exclude abnormal liver function tests due to other causes. The treatment option should be carefully decided to suppress the viral replication effectively. To obtain good compliance, clinicians should educate patients and their parents. Appropriate monitoring for virologic breakthrough and genotypic resistance is important in deciding to change the treatment plan. Sequential monotherapy should be avoided and a combination of drugs in other categories is recommended. New antiviral agents, such as entecavir and tenofovir, which have high potency and high genetic barrier, are soon expected to be available for use with children.

• Journal of Interdisciplinary Genomics
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• 제2권2호
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• pp.20-25
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• 2020

Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a multisystem lysosomal storage disease that is inherited in an autosomal recessive manner. It consists of four subtypes (MPS IIIA, B, C, and D), each characterized by the deficiency of different enzymes that catalyze the metabolism of the glycosaminoglycan heparan sulfate at the lysosomal level. The typical clinical manifestation of MPS III includes progressive central nervous system (CNS) degeneration with accompanying systemic manifestations. Disease onset is typically before the age of ten years and death usually occurs in the second or third decade due to neurological regression or respiratory tract infections. However, there is currently no treatment for CNS symptoms in patients with MPS III. Invasive and non-invasive techniques that allow drugs to pass through the blood brain barrier and reach the CNS are being tested and have proven effective. In addition, the application of genistein treatment as a substrate reduction therapy is in progress.

• IMMUNE NETWORK
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• 제13권5호
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• pp.168-176
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• 2013

In the last few years major progress has been made in better understanding the role of natural killer (NK) cells in hepatitis C virus (HCV) infection. This includes multiple pathways by which HCV impairs or limits NK cells activation. Based on current genetic and functional data, a picture is emerging where only a rapid and strong NK cell response early on during infection which results in strong T cell responses and possible subsequent clearance, whereas chronic HCV infection is associated with dysfunctional or biased NK cells phenotypes. The hallmark of this NK cell dysfunction is persistent activation promoting ongoing hepatitis and hepatocyte damage, while being unable to clear HCV due to impaired IFN-${\gamma}$ responses. Furthermore, some data suggests certain chronically activated subsets that are $NKp46^{high}$ may be particularly active against hepatic stellate cells, a key player in hepatic fibrogenesis. Finally, the role of NK cells during HCV therapy, HCV recurrence after liver transplant and hepatocellular carcinoma are discussed.