• Title/Summary/Keyword: 분자 진단

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Access of Anti-cancer Treatment for Advanced Colon Cancer with Metastasis (전이를 동반한 진행성대장암의 항암 치료에 대한 접근)

  • Hyun Gun Kim
    • Journal of Digestive Cancer Research
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    • v.1 no.1
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    • pp.6-16
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    • 2013
  • Recent estimates for colon cancer incidence in Korea have been increased and continue to rank as the second most common in male and the third in female. Although colonoscopy has been known as the best screening tool for colon cancer, 20-25% of patients with colon cancer was diagnosed with stage IV cancer. During the past 10 years, intensive clinical studies helped to establish the value of palliative treatment for colon cancer with metastasis. The introduction of new chemotherapeutic agents such as irinotecan and oxaliplatin has led to a significant increase in tumor response and median survival. In advanced colon cancer, impressive prolongation or overall survival can be achieved through sequential application of combined systemic chemotherapy. In addition, targeted manipulation of molecular tumor mechanisms with new substances such as monoclonal antibodies against the epidermal growth factor receptor or vascular endothelial growth factor shows promising effects. Progress in the systemic treatment of colon cancer is evident, not only because of the significant increase in life expectancy in advanced colon cancer.

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Recent updated diagnostic methods for esophageal motility disorders (식도의 운동장애에 관한 최신지견)

  • Yoon, Seok-Hwan
    • Journal of radiological science and technology
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    • v.27 no.4
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    • pp.11-16
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    • 2004
  • Classification of esophageal motility disorders not yet finalized and is still ongoing as the new disorders are reported, and the existing classification is changed or removed. In terms of radiology, the primary peristalsis does not exist, and the lower end of the esophagus show the smooth, tapered, beak-like appearance. The esophageal motility disorder, which mostly occurs in the smooth muscle area, show the symptoms of reduction or loss (hypomotility) or abnormal increase (hypermotility) of peristalsis of the esophagus. It is important to understand the anatomy and physiology of the esophagus for the appropriate radiological method and diagnosis. Furthermore, the symptom of the patient and the manometry finding must be closely referred for the radiological diagnosis. The lower esophageal sphincter can be normally functioning and open completely as the food moves lower. Sperandio M et al. argues that the name diffuse esophageal spasm must be changed to distal esophageal spasm (DES) as most of the spasm occurs in the distal esophagus, composed of the smooth muscle. According to Ott et al., usefulness of barium method for diagnosing the esophageal motility disorder is Achalasia 95%, DES 71% and NEMD 46%, with the overall sensitivity of 56%. However, excluding the nutcracker esophagus or nonspecific disorder which cannot be diagnosed with the radiological methods, the sensitivity increases to 89%. Using videofluoroscopy and 5 time swallows, the average sensitivity was over 90%. In conclusion, the barium method is a simple primary testing method for esophageal motility test. Using not only the image but also the videofluoroscopy with good knowledge of the anatomy and physiology, it is believed that the method will yield the accurate diagnosis.

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Molecular and Phenotypic Characteristics of Patients with Pseudohypoparathyroidism: Single Center's Experience (가성부갑상선기능저하증 환자의 분자유전학적 및 임상적 특징: 단일기관의 경험)

  • Kim, Min-ji;Yoon, Ju Young;Yoo, Sukdong;Lee, Jun;Cheon, Chong Kun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.21 no.1
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    • pp.7-14
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    • 2021
  • Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

Analysis of Standard Income Regarding the Cultivation of Non-Timber Forest Products - Focused on major nuts and fruits - (단기소득임산물 재배 소득분석 - 주요 수실류를 중심으로 -)

  • Kang, Hag Mo;Chang, Cheol Su;Choi, Soo Im
    • Journal of Korean Society of Forest Science
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    • v.103 no.3
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    • pp.490-502
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    • 2014
  • This study investigates the cultivation processes of major nuts and fruits such as Ginkgo biloba L., Vitis coignetiae, Actinidia arguta Planch, Rubus coreanus Miq., and Rubus crataegifolius and analyzes standard income in order to provide foundational data necessary to make reasonable policies related with the criteria of compensating the loss of forest products or diagnosis of forestry management. According to the research results, the types of cultivation by items can be largely divided into open field culture and mountainous culture. Regarding the average annual income per unit area (3.3) by items, the open field culture of Ginkgo biloba L. was 1,060 Won, mountainous culture of Ginkgo biloba L. was 618 Won, open field culture of Vitis coignetiae was 5,891 Won, mountainous culture of Actinidia arguta Planch was 8,113 Won, open field culture of Rubus coreanus Miq. was 14,701 Won, and open field culture of Rubus crataegifolius was 17,482 Won or so; thus, the average annual income of Rubus coreanus Miq. and Rubus crataegifolius was very higher than that of the other items. In particular, because the production of Rubus crataegifolius starts two years after the planting and they rely on family labor mainly for the cultivation, the expenses for employment and labor were analyzed to be low. In addition, the analysis shows that at most of the nuts and fruits cultivation, initial investment costs for facilities or seedlings occupy a great part as about 30% averagely out of the management cost, so it is thought that the government should provide proper support to vitalize the cultivation.

Analysis of the Effects of Bone Marrow Biopsy Decalcification Methods on Histopathological Examination (골수생검조직의 조직병리검사에서 탈회방법에 따른 결과 분석)

  • Park, Ji Young;Han, Kyung Hee
    • Korean Journal of Clinical Laboratory Science
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    • v.48 no.4
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    • pp.371-377
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    • 2016
  • Decalcification is routinely performed to obtain a pathological diagnosis using bone marrow biopsy. During the decalcification process using a conventional acidic solution, such as HCl, the antigenicity of tissue is damaged. Especially DNA and RNA in the bone marrow are impaired. Hence, there is the need for a standardized decalcification protocol that preserves the antigenicity of tissue. To this end, we compared the effects of two commonly used decalcifiers: Commercial decalcifier (Calcl-Clear Rapid, HCl) and the EDTA (12.5%, pH 7.0). Bone marrow biopsies sampled from 71 patients were decalcified in accordance with the protocols of respective groups-HCI versus EDTA. The differences of decalcification protocols were analyzed with respect to Hematoxylin & Eosin staining, Gomori'sreticulum staining, and immunohistochemical staining and molecular analysis. Immunohistochemical staining used Ki-67, CD20 and CD138 as primary antibodies and molecular analysis was conducted through the DNA concentration analysis, in situ hybridization (ISH) and immunoglobulin heavy chain (IGH) gene rearrangement. On the routine histopathology analysis, there was no difference between HCl and EDTA. Moreover, in case of immunohistochemical staining, the cytoplasmic membrane or cytoplasmic CD markers was well preserved. However, nuclear proteins, such as Ki-67, were stained with low quality. Conversely, according to the molecular analysis, the EDTA protocol preserved the DNA and RNA compared with the HCI. The differences of DNA quantity and quality were statistically significant between protocols of HCl and EDTA. We used 38 cases in HCl and 12 cases in EDTA. Consequently, the EDTA protocol maintains the antigenicity of the protein on tissue and is acceptable for examination with molecular base analysis. Decalcification of bone marrow biopsy by EDTA is highly recommended for the examination of immunohistochemical staining and molecular analysis.

Range of physicochemical parameters for active ingredients of herbicides (제초제의 활성 성분에 대한 물리-화학 파라미터의 범위)

  • Sung, Nack-Do;Song, Seon-Seob
    • The Korean Journal of Pesticide Science
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    • v.7 no.1
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    • pp.58-65
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    • 2003
  • Various physicochemical parameters for the active ingredients of 245 herbicides were calculated to develope a diagnosis and estimation system for utility as herbicide. The range of physico-chemical parameters for each inhibitors of photo system II (H1), acetolactate synthase (ALS) (H2) and herbicides were confirmed. The distribution ranges of 85% dependence for each physicochemical parameters were Obs.logP :$-0.90\sim4.50$, dipol moment: $1.80\sim12.22$ (debye), molecular refractivity: $53.0\sim104.0(cm^3/mol)$, polarizability: $19.0\sim37.0(\AA^3)$, HOMO energy: $-9.98\sim-7.34$ (eV), LUMO energy:$-2.76\sim0.40$ (eV), Van der Waals molecular volumes: $558.0\sim995.0(cm^3)$, molecular weight: $202.0\sim430.0$ (amu) and surface areas (Grids): $194.0\sim356.0(\AA^2)$, hydration energy: $-10.16\sim114.7$ Kcal/mol, respectively. It is suggested that MR and polarizability constants will be able to distinguish between herbicides and medicinal drugs. Results revealed that various compounds based on the range of physicochemical parameters of herbicides could be diagnosed and estimated.

Aromatic Agriculture: Volatile Compound-Based Plant Disease Diagnosis and Crop Protection (향기농업: 휘발성 물질을 이용한 식물병 진단과 방제)

  • Riu, Myoungjoo;Son, Jin-Soo;Oh, Sang-Keun;Ryu, Choong-Min
    • Research in Plant Disease
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    • v.28 no.1
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    • pp.1-18
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    • 2022
  • Volatiles exist ubiquitously in nature. Volatile compounds produced by plants and microorganisms confer inter-kingdom and intra-kingdom communications. Autoinducer signaling molecules from contact-based chemical communication, such as bacterial quorum sensing, are relayed through short distances. By contrast, biogenic volatiles derived from plant-microbe interactions generate long-distance (>20 cm) alarm signals for sensing harmful microorganisms. In this review, we discuss prior work on volatile compound-mediated diagnosis of plant diseases, and the use of volatile packaging and dispensing approaches for the biological control of fungi, bacteria, and viruses. In this regard, recent developments on technologies to analyze and detect microbial volatile compounds are introduced. Furthermore, we survey the chemical encapsulation, slow-release, and bio-nano techniques for volatile formulation and delivery that are expected to overcome limitations in the application of biogenic volatiles to modern agriculture. Collectively, technological advances in volatile compound detection, packaging, and delivery provide great potential for the implementation of ecologically-sound plant disease management strategies. We hope that this review will help farmers and young scientists understand the nature of microbial volatile compounds, and shift paradigms on disease diagnosis and management to aromatic (volatile-based) agriculture.

A Case Report of Novel Mutation in GNPTAB in Two Siblings with Mucolipidosis Type III Alpha/beta (GNPTAB 유전자에서 새로운 돌연변이가 확인된 뮤코지방증 III형 남매)

  • Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.99-106
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    • 2018
  • Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

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염색체 미세절단과 형광 접합법을 이용한 소 성염색체 library의 개발

  • 이종호
    • Journal of Embryo Transfer
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    • v.14 no.1
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    • pp.3-5
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    • 1999
  • 이식 전 수정란의 성판정은 많은 축산인의 소망이었다. 많은 방법이 제기되었지만, 세포유전학적 분석방법은 ET의 상용화에 거의 무의미할 정도로 한계가 많았고, 이후 개발된 응성 특이적 항원이나 X-염색체에서 발현되는 효소의 활동을 통한 성판정 방법은 흥미롭기는 하나 산업적 적용에 제약이 많았다. 80년대 중반 Y-염색체 특이적인 DNA 탐침자의 개발과 PCR을 통한 DNA증폭기술의 개발은 수정란 성판정을 획기적으로 개선시켰다. DNA기술을 통한 수정란의 성판정은 분자생물학을 현장으로 진출시킨 첫 경우이기도 했다. 90년대에 세포유전학적 분석에서 FISH가 소개되었으며, 염색체 특이적 library는 다른 기초적이고 응용세포유전학적 연구에 유용한 도구가 되었다. 최근에는 사람에서는 착상전 수정란의 성판별 및 유전진단을 위해 실시되고 있는 형광직접접합법(fluorescent in situ hybridization, FISH)은 효소적 유전자 증폭(polymerase chain reaction; PCR)에 비해 높은 민감도와 정확성을 보이고 있으나 hybridization 및 washing 과정에 매우 긴 시간이 소요되고, 절차도 까다로워 현장에서의 적용이 용이치 않았다. 그러나 direct labelled probe의 이용, heat programmable instrument의 개발, denaturing chemical의 사용배제 등을 통해 소요시간 및 절차의 대폭적인 간소화를 이루어 현장의 적용 가능성을 한층 높이고 있다. 현재 사람의 세포유전학 및 종양학에서는 FISH의 다양한 기술이 많이 이용하고 있으나 소에서는 탐침자(probe)가 개발되어 있지 않아 그 이용이 미미하다. 본 연구는 FISH를 이용하기 위한 탐침자의 개발을 궁극적인 목표로 삼았으며, 이를 위해 접근이 용이한 방식을 개발하여 기존의 방식과는 다른 소 배아세포의 성을 판별 할 수 있는 접근방법을 소개 하고자한다.

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Soft lithographic patterning of proteins and cells inside a microfluidic channel (소프트 리소그라피를 이용한 마이크로유체 채널 내의 단백질 및 세포 패터닝)

  • Suh, Kahp-Yang
    • Journal of the Korean Vacuum Society
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    • v.16 no.1
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    • pp.65-73
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    • 2007
  • The control of surface properties and spatial presentation of functional molecules within a microfluidic channel is important for the development of diagnostic assays, microreactors, and for performing fundamental studies of cell biology and fluid mechanics. Here, we present soft lithographic methods to create robust microchannels with patterned microstructures inside the channel. The patterned regions were protected from oxygen plasma by controlling the dimensions of the poly(dimethylsiloxane)(PDMS) mold as well as the sequence of fabrication steps. The approach was used to pattern a non-biofouling polyethylene glycol(PEG)-based copolymer or the polysaccharide hyaluronic acid(HA) within microfluidic channels. These non-biofouling patterns were then used to fabricate arrays of fibronectin(FN) and bovine serum albumin(BSA) as well as mammalian cells.