• Journal of Genetic Medicine
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• 제6권1호
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• pp.87-90
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• 2009

Cardiofaciocutaneous (CFC) 증후군은 누난-관련질환중 하나로서, 심장기형, 특징적 얼굴형태, 피부이상과 발달지연이 동반되는 질환이다. CFC증후군은 성긴 두피, 옅은 눈썹, 안구 돌출이나 안구 진탕 등의 얼굴 형태와 과각화증, 어린선 등의 피부증상으로 다른누난 관련-질환과 임상적으로 구분을 할 수 있으나, 임상적인 구분이 모호한 경우도 있다. 최근 누난 증후군과 누난-관련 증후군의 원인유전자들이 밝혀짐에 따라 이들의 감별 진단에 도움을 받고 있다. 이에 본 저자들은 유전자 검사를 통하여 진단된 CFC증후군 1례를 보고하는 바이며, 누난 증후군과 누난-관련 질환의 유전형과 표현형의 다양성에 대해 논의하고자 한다.

• 동의생리병리학회지
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• 제19권4호
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• pp.884-892
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• 2005

Seeing through the reference of literatures ${\ll}$Internal Classic${\gg}$, ${\ll}$Donguibogam${\gg}$ and Master Jisan's theory about Ki-Hyul and Hyul-Ki, the writer came to conclusions as follows. In ${\ll}$Internal Classic${\gg}$ Ki-Hyul is expressed into being orderly and ordinate, but Hyul-Ki is described differently into making Hyul-Ki or operating Hyul-Ki. In ${\ll}$Donguibogam${\gg}$ Ki-Hyul and Hyul-Ki are not distinguished between two things, but Ki-Hyul is mentioned as harmony of Ki-Hyul and Hyul-Ki, and Hyul-Ki as ascending and descending or as deficiency and excess. In Hyungsang medicine the special characters of Ki-Hyul is seized the essence of the meanings from the deflection between left and right, changes of skin, flesh, meridian, muscle and bones. And the distinctive marks of Hyul-Ki is got hold from changes of complexion, many or few hairs, ascending or descending spirits of ears, eyes, mouth and nose. Also Ki-Hyul is recognized by laying stress on rise and fall, after birth, breast, upper limbs, eight extra meridians. And Hyul-Ki is recognized by laying stress on going up and down, the inborn constitution, abdomen, lower limbs, and twelve meridians. Jisan distinguished Ki-Hyul from Hyul-Ki theoretically and he applied the theory to clinical examination proved the facts that the theory and the examination are in accord with each other. This attempts was for the first time in Oriental medicine history and the theory was set up. It is thought that the defects of the theory about Ki-Hyul and Hyul-Ki which Jisan insisted on need much more study from now on.

• 대한유전성대사질환학회지
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• 제18권1호
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• pp.13-17
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• 2018

메틸말론산혈증은 선천성 유기산대사질환 중 하나로 증상의 발현시기 및 임상 증상이 매우 다양하며, 장기간의 합병증으로 세뇨관 간질 신염과 만성 신기능 저하, 췌장염, 기저핵 손상, 지능저하가 발생 할 수 있다. 연구자들은 이러한 메틸말론산혈증의 세뇨관 간질신염을 동반한 활동저하 환자에서 파미드로네이트 치료를 통해 고칼슘혈증과 골다공증의 호전을 경험하였기에 보고하는 바이다.

• Preventive Nutrition and Food Science
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• 제19권4호
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• pp.247-260
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• 2014

The impact of folate on health and disease, particularly pregnancy complications and congenital malformations, has been extensively studied. Mandatory folic acid fortification therefore has been implemented in multiple countries, resulting in a reduction in the occurrence of neural tube defects. However, emerging evidence suggests increased folate intake may also be associated with unexpected adverse effects. This literature review focuses on contemporary issues of concern, and possible underlying mechanisms as well as giving consideration the future direction of mandatory folic acid fortification. Folate fortification has been associated with the presence of unmetabolized folic acid (PteGlu) in blood, masking of vitamin $B_{12}$ deficiency, increased dosage for anti-cancer medication, photo-catalysis of PteGlu leading to potential genotoxicity, and a role in the pathoaetiology of colorectal cancer. Increased folate intake has also been associated with twin birth and insulin resistance in offspring, and altered epigenetic mechanisms of inheritance. Although limited data exists to elucidate potential mechanisms underlying these issues, elevated blood folate level due to the excess use of PteGlu without consideration of an individual's specific phenotypic traits (e.g. genetic background and undiagnosed disease) may be relevant. Additionally, the accumulation of unmetabolized PteGlu may lead to inhibition of dihydrofolate reductase and other enzymes. Concerns notwithstanding, folic acid fortification has achieved enormous advances in public health. It therefore seems prudent to target and carefully monitor high risk groups, and to conduct well focused further research to better understand and to minimize any risk of mandatory folic acid fortification.

• Archives of Plastic Surgery
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• 제37권6호
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• pp.847-849
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• 2010

Purpose: Traditional radical surgery for vulvar cancer produces severe skin and soft tissue defects in the vulvar and vaginal area. Vulvoperineal V-Y advancement fasciocutaneous flaps have limitations in advancement and tension at the wound margin and vaginal orifice area, causing wound disruption or vaginal wall exposure. Therefore, we designed the "Butterfly flap" using a vulvoperineal V-Y advancement fasciocutaneous flap and an inguinal rotational skin flap for 3-dimensional reconstruction of vagina and vulvar area. Methods: A 27 year-old female was diagnosed with vulvar intraepithelial neoplasia. Radical vulvectomy and full-thickness-skin-graft was performed. We designed a vulvoperineal V-Y advancement fasciocutaneous flap as the greater wing and inguinal rotational skin as the lesser wing. After flap elevation, the inguinal flap was rotated $180^{\circ}$ to reconstruct the labia major and vaginal orifice. The perineum was reconstructed using V-Y advancement flaps. Results: The flap survived completely, without any complications. After 6 months, the patient was able to perform normal sexual activities and after 18 months, the patient was able to give birth to normal child by caesarean section. Conclusion: The traditional vulvoperineal V-Y advancement fasciocutaneous flap is thin, reliable, easily elevated and matches local skin quality. However, the vaginal wall becomes exposed due to limited advancement and tension of the flap. The "Butterfly flap" using a vulvoperineal V-Y advancement fasciocutaneous flap and an inguinal rotational skin flap is useful for the release of vaginal orifice contracture, reconstruction of the labia major, and 3-dimensional reconstruction of vagina and vulvar area.

• Journal of Preventive Medicine and Public Health
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• 제42권1호
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• pp.1-4
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• 2009

Objectives : Isolated cleft lip with or without cleft palate(CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3(BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Methods : Forty case-parent trios were genotyped for two single nucleotide polymorphisms(SNPs) in the BCL3 gene. We performed a transmission disequilibrium test(TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes. Results : The odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs8100239(OR=3.50, p=0.004) and rs2965169(OR=2.08, p=0.027) when parent-of-origin was not considered. Parentspecific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission. Conclusions : BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.

• BMB Reports
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• 제52권2호
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• pp.157-162
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• 2019

Our previous study found that two novel cancer-related genes, PRR11 and SKA2, constituted a classic gene pair that was regulated by p53 and NF-Y in lung cancer. However, their role and regulatory mechanism in breast cancer remain elusive. In this study, we found that the expression levels of PRR11 and SKA2 were upregulated and have a negative prognotic value in breast cancer. Loss-of-function experiments showed that RNAi-mediated knockdown of PRR11 and/or SKA2 inhibited proliferation, migration, and invasion of breast cancer cells. Mechanistic experiments revealed that knockdown of PRR11 and/or SKA2 caused dysregulation of several downstream genes, including CDK6, TPM3, and USP12, etc. Luciferase reporter assays demonstrated that wild type p53 significantly repressed the PRR11-SKA2 bidirectional promoter activity, but not NF-Y. Interestingly, NF-Y was only essential for and correlated with the expression of PRR11, but not SKA2. Consistently, adriamycin-induced (ADR) activation of endogenous p53 also caused significant repression of the PRR11 and SKA2 gene pair expression. Notably, breast cancer patients with lower expression levels of either PRR11 or SKA2, along with wild type p53, exhibited better disease-free survival compared to others with p53 mutations and/or higher expression levels of either PRR11 or SKA2. Collectively, our study indicates that the PRR11 and SKA2 transcription unit might be an oncogenic contributor and might serve as a novel diagnostic and therapeutic target in breast cancer.

• 농업과학연구
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• 제48권1호
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• pp.33-43
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• 2021

Along with the widespread use of pesticides in the world, concerns over human health impacts are rapidly growing. There is a large body of evidence on the relationship between the exposure to pesticides and the elevated rate of chronic diseases such as different types of cancers, diabetes, neurodegenerative disorders like Parkinson, Alzheimer, and amyotrophic lateral sclerosis (ALS), birth defects, and reproductive disorders. This research assessed the health risk of pesticide residues by the dietary intake of vegetables collected from the agro-based markets of Dhaka, Bangladesh. As some of the banned pesticides were also found in vegetable samples, they may pose a higher risk because of cheaper availability and hence the government of Bangladesh should take strong measures to control these banned pesticides. Five organo phosphorus (chlorpyrifos, parathion, ethion, acephate, fenthion) and two carbamate (carbaryl and carbofuran) pesticide residues were identified in twenty four samples of two common vegetables (tomato and brinjal). The pesticide residues ranged from below a detectable limit (< 0.01) to 0.36 mg·kg^-1. Acephate, chlorpyrifos, ethion, and carbaryl were detected in only one sample, while co-occurrence occurred twice for parathion. Continuous monitoring and strict regulation should be enforced regarding the control of pesticide residues in fresh vegetables and other food commodities in Bangladesh.

• International Journal of Computer Science & Network Security
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• 제22권11호
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• pp.157-162
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• 2022

Cerebral palsy is one of the most serious forms of disorders of the psychophysical development of children, which manifests itself in disturbances of motor functions, which are often combined with speech disorders, other complications of the formation of higher mental functions, and often with a decrease in intelligence. The article will discuss the speech disorder in children with cerebral palsy. Emphasis is placed on some important aspects, which should bear in mind, investigating the problem of specifics of speech development of children with cerebral palsy. In particular at the heart of speech disorders in the cerebral palsy is not only damage to certain structures of the brain, but also the later formation or underdevelopment of those parts of the cerebral cortex, which are of major importance in linguistic and mental activity. This is an ontogenetically young region of the cerebral cortex, which is most rapidly developing after birth (premotor, frontal, temmono-temporal). It is important to take into account, that children with cerebral palsy have disturbances of phonemic perception. Often, children do not distinguish between hearing sounds, cannot repeat component rows, allocate sounds in words. At dysarthria, there are violations of pronunciation of vowel and consonant sounds, tempo of speech, modulation of voice, breathing, phonation, as well as asynchronous breathing, alignment and articulation. As a result, we identified the main features and specifics of the speech development of children with cerebral palsy and described the conditions necessary for the full development of language. Language disturbances in children's cerebral palsy depend on the localization and severity of brain damage. Great importance in the mechanism of speech disorders has a pathology that limits the ability of movement and knowledge of the world.

• Korean Journal of Radiology
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• 제22권3호
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• pp.395-404
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• 2021

Objective: To compare the utility of computed tomography perfusion (CTP) and three different 4-point scoring systems in computed tomography angiography (CTA) in confirming brain death (BD) in patients with and without skull defects. Materials and Methods: Ninety-two patients clinically diagnosed as BD using CTA and/or CTP for confirmation were retrospectively reviewed. For the final analysis, 86 patients were included in this study. Images were re-evaluated by three radiologists according to the 4-point scoring systems that consider the vessel opacification on 1) the venous phase for both M4 segments of the middle cerebral arteries (MCAs-M4) and internal cerebral veins (ICVs) (A60-V60), 2) the arterial phase for the MCA-M4 and venous phase for the ICVs (A20-V60), 3) the venous phase for the ICVs and superior petrosal veins (ICV-SPV). The CTP images were independently reviewed. The presence of an open skull defect and stasis filling was noted. Results: Sensitivities of the ICV-SPV, A20-V60, A60-V60 scoring systems, and CTP in the diagnosis of BD were 89.5%, 82.6%, 67.4%, and 93.3%, respectively. The sensitivity of A20-V60 scoring was higher than that of A60-V60 in BD patients (p < 0.001). CTP was found to be the most sensitive method (86.5%) in patients with open skull defect (p = 0.019). Interobserver agreement was excellent in the diagnosis of BD, in assessing A20-V60, A60-V60, ICV-SPV, CTP, and good in stasis filling (κ: 0.84, 0.83, 0.83, 0.83, and 0.67, respectively). Conclusion: The sensitivity of CTA confirming brain death differs between various proposed 4-point scoring systems. Although the ICV-SPV is the most sensitive, evaluation of the SPV is challenging. Adding CTP to the routine BD CTA protocol, especially in cases with open skull defect, could increase sensitivity as a useful adjunct.