• Journal of Genetic Medicine
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• v.18 no.2
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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.

• Korean Journal of Soil Science and Fertilizer
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• v.17 no.4
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• pp.343-348
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• 1984

Variation of soil properties within mapping unit of lava plain soils was statistically summarized. Properties such as particle size distribution, moisture retention, color, pH, and CEC are relatively unaffected by soil management while Na, K, base saturation, and available $P_2O_5$ most affected by management. These soils were correctly classified with regard to order at 66.5, to greatgroup at 56.0, and to series at 43.8%. CV values greater than 90% could be symptomatic of skew distribution. Distributions of sand content and some chemical properties were log-normal.

• The Journal of Internal Korean Medicine
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• v.24 no.2
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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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• v.16 no.4
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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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• v.42 no.1
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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.

• Journal of the Korean Child Neurology Society
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• v.24 no.3
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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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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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.

• Korean Journal of Environmental Biology
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• v.41 no.1
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• pp.1-13
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• 2023

Broad bean wilt virus 2 (BBWV2) is a species in the genus Fabavirus and family Secoviridae, which is transmitted by aphids and has a wide host range. The BBWV2 genome is composed of two single-stranded, positive-sense RNAs, RNA-1 and RNA-2. The representative symptoms of BBWV2 are mosaic, mottle, vein clearing, wilt, and stunting on leaves, and these symptoms cause economic damage to various crops. In 2019, Perilla fructescens leaves with mosaic and yellowing symptoms were found in Geumsan, South Korea. Reverse-transcription polymerase chain reaction (RT-PCR) was performed with specific primers for 10 reported viruses, including BBWV2, to identify the causal virus, and the results were positive for BBWV2. To characterize a BBWV2 isolate (BBWV2-GS-PF) from symptomatic P. fructescens, genetic analysis and pathogenicity tests were performed. The complete genomic sequences of RNA-1 and RNA-2 of BBWV2-GS-PF were phylogenetically distant to the previously reported BBWV2 isolates, with relatively low nucleotide sequence similarities of 76-80%. In the pathogenicity test, unlike most BBWV2 isolates with mild mosaic or mosaic symptoms in peppers, the BBWV2-GS-PF isolate showed typical ring spot symptoms. Considering these results, the BBWV2-GS-PF isolate from P. fructescens could be classified as a new strain of BBWV2.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.22
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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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• v.34 no.3
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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.