• Journal of Genetic Medicine
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• 제18권2호
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• pp.101-104
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• 2021

Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.

• 한국토양비료학회지
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• 제17권4호
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• pp.343-348
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• 1984

제주도(濟州道)와 울릉도(鬱陵島)에 분포(分布)한 용암류(熔岩類) 대지토양(台地土壤)의 이화학성(理化學性)을 분류단위수준(分類單位水準)(목일대군일통(目一大群一統))에서 작도단위(作圖單位)에 대(對)한 토양단면내(土壤斷面內) 토양특성(土壤特性)의 변이성(變異性) 및 순수성(純粹性)을 분석(分析)한 결과(結果)는 다음과 같다. (1) 일반적(一般的)으로 토양관리(土壤管理)에 의(依)해 영향(影響)을 많이 받는 화학성(化學性)은 물리성(物理性)보다 변이성(變異性)이 컸음. (2) 토양관리(土壤管理) 방법(方法)에 따른 변이성(變異性)은 분류단위(分類單位)가 낮아짐에 따라 감소(減少)하였음. (3) 토양통(土壤統) 설정시(設定時) 순수성(純粹性)은 목(目), 대군(大群) 및 통(統)에서 각각(各各) 66.5, 56.0 및 43.8%이었음. (4) 모래함량(含量)과 몇가지 화학성(化學性)은 대수정규(對數正規) 분포(分布)를 하므로 이들의 평균(平均)을 수정(修正)하였음.

• 대한한방내과학회지
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• 제24권2호
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• pp.329-336
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• 2003

Objective : We evaluated the therapeutic effect of Banwhasasimtang dry extract powder on gastrointestinal symptoms and its side effects in patients with functional dyspepsia. Methods : Patients with functional dyspepsia, defined as discomfort in the epigastrium. A total 45 patients participated in this study. Dyspeptic symptoms ratio was obtained by patients, total point of symptom score/total 21 points x 100(%). On each of symptom after 4 weeks administration of Banwhasashim-tang was made by variation of symptom score: If symptoms score of posttreatment is lower than that of pretreatment, it is improved ; Otherwise aggravated, and if there is no change between them, unchangeable. When a full health condition of normal control is assumed 100%, relative health condition of dyspeptic patient could be calculated from 'full health condition-dyspeptic symptoms ratio'. Therefore a whole satisfaction rate on symptom improvement was presented with variation of a relative health condition to dyspepsia between pretreatment and post. Results : Banwhasashimtang significantly improved symptoms in patients. The significance was shown in both all seven items(p<0.01, respectively) and 19.2% (p<0.01) of increase of a whole satisfaction rate on symptom improvement. There is no remarkable side-effect in all laboratory test, excepting 1 case of abdominal pain and another one case of recurred pain of chronic prostatitis. Conclusion : Banwhasashimtang extract provides symptomatic relief in functional dyspepsia and is no remarkable side-effect drug.

• The Plant Pathology Journal
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• 제16권4호
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• pp.227-230
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• 2000

A total of 90 isolates of Fusarium oxysporum f.sp. melonis, the causal agent of oriental melon (Cucumis melo var. makuwa) wilt, was isolated from symptomatic tissues of oriental melon from 4 provinces in Korea. These isolates were grouped into vegetative compatibility groups (VCGs) by demonstrating heterokaryosis through complementation using nitrate nonutilizing (nit) mutants. No self-incompatibility was observed in any of isolates. All isolates were grouped into 3 VCGs ; A, B, and C. iSOLATES BELONGING TO VCG A and VCG B accounted for 87% and 91% of the fungal population collected in 1991 and 1993, respectively. As the increment of cultivation period in the same field, the proportion of isolates belonging to VCG B increased whereas that of isolates belonging to VCG A decreased. Mean virulence of a total population increased as the increment of cultivation period in the same field. Isolates belonging to VCG B showed the highest increment of virulence. These data suggest that replanting of a host plant in the same field may cause increase of virulence in the pathogens. Furthermore, virulence of F. oxysporum f.sp. melonis isolates is related to the VCGs.

• Restorative Dentistry and Endodontics
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• 제42권1호
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• pp.60-64
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• 2017

Root canal anatomy is complex, and the recognition of anatomic variations could be a challenge for clinicians. This case report describes the importance of cone beam computed tomographyic (CBCT) imaging during endodontic treatment. A 23 year old woman was referred by her general dental practitioner with the chief complaint of spontaneous pain in her right posterior maxilla. From the clinical and radiographic findings, a diagnosis of symptomatic irreversible pulpitis was made and endodontic treatment was suggested to the patient. The patient underwent CBCT examination, and CBCT scan slices revealed seven canals: three mesiobuccal (MB1, MB2, and MB3), two distobuccal (DB1 and DB2), and two palatal (P1 and P2). Canals were successfully treated with reciprocating files and filled using single-cone filling technique. Precise knowledge of root canal morphology and its variation is important during root canal treatment. CBCT examination is an excellent tool for identifying and managing these complex root canal systems.

• 대한소아신경학회지
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• 제24권3호
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• pp.71-83
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• 2016

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo's oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

• 대한유전성대사질환학회지
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• 제22권1호
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• 환경생물
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• 제41권1호
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• pp.1-13
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• 2023

잠두위조바이러스2 (BBWV2)는 경제적으로 중요한 원예, 관상작물에 심각한 피해를 주는 바이러스 중의 하나다. BBWV2의 넓은 기주 범위, 매개충 방제의 어려움 등 효과적인 치료제가 없기 때문에, 병을 예방하거나 저항성 품종의 개발 등을 위해서는 BBWV2의 새로운 분리주들의 특성 조사와 연구가 필요하다. 본 연구에서는 2019년 금산지역의 잎들깨 재배농가에서 분리된 BBWV2 분리주(BBWV2-GS-PF)의 유전학적·생물학적 특성을 구명하고 기존에 보고된 분리주들과의 특성을 비교하였다. 순수 분리된 BBWV2-GS-PF는 기존 분리주와 달리 들깨에서 심한 모자이크 증상과 고추에서 원형 반점 증상을 보였다. BBWV2-GS-PF의 유전자 계통분석 결과, 기존에 알려진 2개의 그룹과 약 76~80%의 비교적 낮은 유전자 상동성을 보이며 계통이 분화된 것을 확인할 수 있었다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권22호
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• pp.9933-9937
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• 2014

Background: Colorectal cancer is the third most common type of cancer in males and the second in females in Iran. Males are more likely to develop CRC than women and age is considered as a main risk factor for colorectal cancer. Prevalence of colorectal cancer has been increasing in Asian countries. Aim: The object of this study was to determine the clinical and pathology characteristics of colorectal polyps in Iranian patients and to investigate the variation between our populations with other populations. Materials and Methods: A total of 167 patients with colorectal polyps were included in our study. All underwent colonoscopy during 2009-2013 and specimens were taken through polypectomy and transferred to pathology. All data in patient files including pathology reports were collected and analyzed by SPSS 16 software. A two-tailed test was used and a P-value of < 0.05 was considered significant. Results: Mean age of participants was $57{\pm}15$. Some 84 were females (50.3%) and 83 males (49.7%). Total of 225 polyps were detected which 119 (52.9%) were in males and 106 (47.1%) were in females. Solitary polyps were observed in 124 patients (74%), 26 (15.6%) had two polyps and 17 (10.1%) with more than two polyps (three to five). Rectosigmoid was the site of most of the polyps (63.1%), followed by 19.6% in the descending colon, 7.6% in the transverse, 5.8% in the ascending, and 3.1% in the cecum, data being missing in two cases. Conclusions: Recto sigmoid was site of most of the polyps. The most prevalent type of lesion was adenomatous polyps detected in 78 (34.7%). Mixed hyperplastic adenomatous type observed in 70 (31.1%). This high prevalence of adenomatous polyps in Iranian patients implies the urgent need for screening plans to prevent further healthcare problems with colorectal cancer in the Iranian population.

• The Plant Pathology Journal
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• 제34권3호
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• pp.199-207
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• 2018

Tomato chlorosis virus (ToCV) is a whitefly-transmitted and phloem-limited crinivirus. In 2013, severe interveinal chlorosis and bronzing on tomato leaves, known symptoms of ToCV infection, were observed in greenhouses in Korea. To identify ToCV infection in symptomatic tomato plants, RT-PCR with ToCV-specific primers was performed on leaf samples collected from 11 tomato cultivating areas where ToCV-like symptoms were observed in 2013 and 2014. About half of samples (45.18%) were confirmed as ToCV-infected, and the complete genome of 10 different isolates were characterized. This is the first report of ToCV occurring in Korea. The phylogenetic relationship and genetic variation among ToCV isolates from Korea and other countries were also analysed. When RNA1 and RNA2 are analysed separately, ToCV isolates were clustered into three groups in phylogenetic trees, and ToCV Korean isolates were confirmed to belong to two groups, which were geographically separated. These results suggested that Korean ToCV isolates originated from two independent origins. However, the RNA1 and RNA2 sequences of the Yeonggwang isolate were confirmed to belong to different groups, which indicated that ToCV RNA1 and RNA2 originated from two different origins and were reassorted in Yeonggwang, which is the intermediate point of two geographically separated groups.