• Title/Summary/Keyword: birth defects

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Study about Ki-blood and Blood-Ki in Hyungsang Medicine (기혈과 혈기에 대한 형상의학적 고찰)

  • Lee, Yong-Tae;Cho, Jang-Soo
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.19 no.4
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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.

Pamidronate therapy for a Patient with Methylmalonic acidemia (메틸말론산혈증 환자에서 파미드로네이트 치료 1례)

  • Cho, Sujin;Seo, Go Hun;Kim, Yoon-Myung;Kim, Gu-Hwan;Yoo, Han-Wook;Lee, Beom Hee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.1
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    • pp.13-17
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    • 2018
  • Methylmalonic acidemia is an autosomal recessive disorder caused by complete (mut0) or partial (mut-) deficiency of methylmalonyl-CoA mutase (MUT) or by defects in the synthesis of adenosylcobalamin (cblA, cblB, cblD variant 2). Long term complications of methylmalonic acidemia include tubulointerstitial nephritis with progressive renal failure, intellectual impairment, pancreatitis, and growth failure. We report a case of methylmalonic acidemia in a girl who diagnosed at 6 days after birth. She has developed recurrent metabolic crises with hyperammonemia and metabolic acidosis. In addition, she suffered from the chronic complications including tubulointerstitial nephritis, electrolyte imbalance associated with renal dysfunction, growth failure and fracture of femur shaft. At the age of 10 years, hypercalcemia and severe osteoporosis were noted, and pamidronate therapy was given for two years, which relieved hypercalcemia and osteoporosis.

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Contemporary Issues Surrounding Folic Acid Fortification Initiatives

  • Choi, Jeong-Hwa;Yates, Zoe;Veysey, Martin;Heo, Young-Ran;Lucock, Mark
    • Preventive Nutrition and Food Science
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    • v.19 no.4
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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.

A New Flap for 3-Dimensional Vulvar and Vaginal Reconstruction: The "Butterfly Flap" (삼차원적 외음부 재건을 위한 나비형피판술)

  • Kim, Sang-Wha;Seo, Byung-Chul;Oh, Deuk-Young;Seo, Je-Won;Ahn, Sang-Tae;Rhie, Jong-Won
    • Archives of Plastic Surgery
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    • v.37 no.6
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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.

Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios

  • Park, Beyoung-Yun;Sull, Jae-Woong;Park, Jung-Yong;Jee, Sun-Ha;Beaty, Terri H.
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.1
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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.

PRR11 and SKA2 gene pair is overexpressed and regulated by p53 in breast cancer

  • Wang, Yitao;Zhang, Chunxue;Mai, Li;Niu, Yulong;Wang, Yingxiong;Bu, Youquan
    • BMB Reports
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    • v.52 no.2
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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.

Probabilistic exposure assessment, a risk-based sampling plan and food safety performance evaluation of common vegetables (tomato and brinjal) in Bangladesh

  • Mazumder, Mohammad Nurun-Nabi;Bo, Aung Bo;Shin, Seung Chul;Jacxsens, Liesbeth;Akter, Tahmina;Bir, Md. Shahidul Haque;Aktar, Most Mohshina;Rahman, Md. Habibur;WeiQiang, Jia;Park, Kee Woong
    • Korean Journal of Agricultural Science
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    • v.48 no.1
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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.

Specifics of Speech Development of Children with Cerebral Palsy

  • Zavitrenko, Dolores;Rizhniak, Renat;Snisarenko, Iryna;Pasichnyk, Natalia;Babenko, Tetyana;Berezenko, Natalia
    • International Journal of Computer Science & Network Security
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    • v.22 no.11
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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.

Assessment of Cerebral Circulatory Arrest via CT Angiography and CT Perfusion in Brain Death Confirmation

  • Asli Irmak Akdogan;Yeliz Pekcevik;Hilal Sahin;Ridvan Pekcevik
    • Korean Journal of Radiology
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    • v.22 no.3
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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.

Diagnostic testing for Duchenne/Becker Muscular dystrophy using Dual Priming Oligonucleotide (DPO) system (Dual Priming Oligonucleotide (DPO) system을 이용한 듀시엔/베커형 근이영양증 진단법)

  • Kim, Joo-Hyun;Kim, Gu-Hwan;Lee, Jin-Joo;Lee, Dae-Hoon;Kim, Jong-Kee;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.15-20
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    • 2008
  • Purpose : Large exon deletions in the DMD gene are found in about 60% of DMD/BMD patients. Multiplex PCR has been employed to detect the deletion mutation, which frequently generates noise PCR products due to the presence of multiple primers in a single reaction as well as the stringency of PCR conditions. This often leads to a false-negative or false-positive result. To address this problematic issue, we introduced the dual primer oligonucleotide (DPO) system. DPO contains two separate priming regions joined by a polydeoxyinosine linker that results in high PCR specificity even under suboptimal PCR conditions. Methods : We tested 50 healthy male controls, 50 patients with deletion mutation as deletion-positive patient controls, and 20 patients with no deletions as deletion-negative patient controls using DPO-multiplex PCR. Both the presence and extent of deletion were verified by simplex PCR spanning the promoter region (PM) and 18 exons including exons 3, 4, 6, 8, 12, 13, 17, 19, 43-48, 50-52, and 60 in all 120 controls. Results : DPO-multiplex PCR showed 100% sensitivity and specificity for the detection a deletion. However, it showed 97.1% sensitivity and 100% specificity for determining the extent of deletions. Conclusion : The DPO-multiplex PCR method is a useful molecular test to detect large deletions of DMD for the diagnosis of patients with DMD/BMD because it is easy to perform, fast, and cost-effective and has excellent sensitivity and specificity.

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