• Title/Summary/Keyword: Disease cycle

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A Fatal Case of Neonatal Onset Carbamoyl Phosphate Synthetase I Deficiency with Homozygous CPS1 Mutation (동종 접합자 CPS1 돌연 변이를 동반한 신생아 발병형 Carbamoyl Phosphate Synthetase 1 결핍증의 치명적 사례)

  • Yun, Jung Ha;Shin, Seung Han;Ko, Jung Min;Kim, Ee-Kyung;Kim, Han-Suk
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.1
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    • pp.18-22
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    • 2018
  • Carbamoyl phosphate synthetase I (CPS1) deficiency is a rare autosomal recessive urea cycle disorder that causes hyperammonemic crisis. CPS1 is the first enzyme encoded by the CPS1 gene, which catalyzes the first step of the urea cycle. In CPS1 deficiency, ammonia, the toxic metabolite produced by the interruption of the urea cycle, is accumulated in the blood and brain, leading to hyperammonemic encephalopathy and irreversible brain damage. Here, we report a fatal case of neonatal-onset CPS1 deficiency in a 4-day-old girl presenting with recurrent seizures, who was revealed to be homozygous for c.1529delG ($p.Gly510Alafs^*5$).

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6 Cases of Polycystic Ovarian Disease Patients Recovering Ovulatory Menstrual Cycle with the Korean Medical Treatment : a Case Report (한방 치료를 통해 배란성 월경을 회복한 다낭성 난소 증후군 환자 6명의 증례보고)

  • Hwangbo, Su-Min;Hwang, Deok-Sang;Lee, Jin-Moo;Lee, Chang-Hoon;Jang, Jun-Bock
    • The Journal of Korean Obstetrics and Gynecology
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    • v.32 no.1
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    • pp.108-126
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    • 2019
  • Objectives: The purpose of this study is to report the effect of Korean medical treatment in case of irregular menstruation (amenorrhea, oligomenorrhea) patients due to Polycystic ovarian syndrome (PCOS). There are some case reports about effectiveness of the Korean medical treatment to this disease, but cases are still deficient. And this case has significance for ascertaining PCOS patients' ovulation. Methods: 6 Amenorrhea or oligomenorrhea patients with PCOS were treated with Korean medical treatment (herbal medicine, moxibustion, acupuncture) at least 3 months. We estimated the effects of treatments through the change of menstrual pattern. Also, we checked follicles by ultrasonography for ovulation. Results: All patients recovered ovulatory menstrual cycle after taking Korean medical treatment for 3~9 months. Conclusions: These cases show the Korean medical treatment is effective on PCOS patients with irregular menstruation by recovering ovulatory menstrual cycle.

Mitochondrial Disease: Will it become a New Great Imitator? (사립체 질환: 새로운 위대한 모방자가 될 것인가?)

  • Kim, Young Han;Ahn, Seok Min;Seo, Young Jun;Yoon, Jong Hyung;Bae, Eun Ju;Lee, Hong Jin
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.3
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    • pp.123-134
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    • 2016
  • Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Diagnosis of mitochondrial disease is difficult, subtle, and has many problems. It is more likely to miss the diagnosis of mitochondrial disease, especially in borderline cases where the symptoms of the disease are not severe. In this regard, urine organic acid analysis is noninvasive and can increase the sensitivity and specificity through repeated load test with few changes according to the specimen. And, It is considered to be suitable as a screening test for mitochondrial diseases because it has a great advantage of distinguishing from organic aciduria, urea cycle disorder and fatty acid oxidation disorder which may have similar symptoms. The purpose of this study was to investigate the clinical features and age distribution of mitochondrial diseases diagnosed by organic acid analysis and to establish the policy of diagnosis and treatment based on this study.

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Successful treatment of a child with citrullinemia

  • Lee, Key-Hyoung;Park, Moon-Sung;Hahn, Si-Hoon
    • Journal of Genetic Medicine
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    • v.1 no.1
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    • pp.5-10
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    • 1997
  • The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or the urea cycle (Rezvani, 1995). The urea cycle consists of five enzymes necessary for the synthesis of carbamyl phosphate, citrulline, argininosuccinate, arginine, and urea: carbamyl phosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccinate synthetase (AS), argininosuccinate lyase (AL), and arginase (ARG) (Lloyd, 1992). Congenital deficiencies of the enzymes involved in the urea cycle are diseases that are almost fatal without treatment, showing symptoms like vomiting, lethargy, dyspnea, and coma due to hyperammonemia coming from the accumulation of ammonia and metabolic precursors resulting from the deficiency of one of these enzymes (Batshaw and Brusilow, 1983). Among these, the disease manifested by the congenital deficiency of argininosuccinate synthetase (AS) which is associated with the formation of argininosuccinate in citrulline is called argininosuccinate synthetase deficiency or citrullinemia. There have been two reports on this so far in Korea; one in July 1987 by Kim et al. and the other by Park et al. in 1995. We are to report a case of successful treatment of a child with citrullinemia who was transferred to our hospital due to dyspnea, lethargy, feeding difficulties, convulsions and cyanosis together with some document studies related to this case.

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Apoptosis and Cell Cycle Arrest in Two Human Breast Cancer Cell Lines by Dieckol Isolated from Ecklonia cava

  • You, Sun Hyong;Kim, Jeong-Soo;Kim, Yong-Seok
    • Journal of Breast Disease
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    • v.6 no.2
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    • pp.39-45
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    • 2018
  • Purpose: Dieckol, a phlorotannin compound isolated from Ecklonia cava, has been reported to have antioxidant, antiviral, anti-inflammatory, and anticancer properties. The purpose of this study was to investigate its anticancer effects on human breast cancer cell lines. Methods: In this study, the viability of two human breast cancer cell lines SK-BR-3 and MCF-7 was investigated after dieckol treatment using a WST-1 assay. Apoptosis and cell cycle distribution were assayed via Annexin V-fluorescein isothiocyanate and propidium iodide staining followed by flow cytometric analysis. Immunoblotting analysis was also performed using Bax/Bcl-2 to determine whether the dieckol-induced apoptosis was mediated by the intrinsic apoptotic pathway. Results: In a dose dependent manner, dieckol reduced the number of viable cells and increased the number of apoptotic cells. The effect of dieckol on the cell cycle distribution was analyzed using flow cytometry. Dieckol treatment significantly increased the percentage of MCF-7 and SK-BR-3 in the G2/M phase. Immunoblot analysis revealed that 24 hours of dieckol exposure increased the Bax/Bcl-2 ratio. Conclusion: Dieckol induced cytotoxicity in MCF-7 and SK-BR-3 human breast cancer cells inducing apoptosis and cell cycle arrest. Therefore, it is suggested that dieckol may be a potential therapeutic agent for breast cancer.

Stem Rot of Pearl Millet Prevalence, Symptomatology, Disease Cycle, Disease Rating Scale and Pathogen Characterization in Pearl Millet-Klebsiella Pathosystem

  • Vinod Kumar Malik;Pooja Sangwan;Manjeet Singh;Pavitra Kumari;Niharika Shoeran;Navjeet Ahalawat;Mukesh Kumar;Harsh Deep;Kamla Malik;Preety Verma;Pankaj Yadav;Sheetal Kumari;Aakash;Sambandh Dhal
    • The Plant Pathology Journal
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    • v.40 no.1
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    • pp.48-58
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    • 2024
  • The oldest and most extensively cultivated form of millet, known as pearl millet (Pennisetum glaucum (L.) R. Br. Syn. Pennisetum americanum (L.) Leeke), is raised over 312.00 lakh hectares in Asian and African countries. India is regarded as the significant hotspot for pearl millet diversity. In the Indian state of Haryana, where pearl millet is grown, a new and catastrophic bacterial disease known as stem rot of pearl millet spurred by the bacterium Klebsiella aerogenes (formerly Enterobacter) was first observed during fall 2018. The disease appears in form of small to long streaks on leaves, lesions on stem, and slimy rot appearance of stem. The associated bacterium showed close resemblance to Klebsiella aerogenes that was confirmed by a molecular evaluation based on 16S rDNA and gyrA gene nucleotide sequences. The isolates were also identified to be Klebsiella aerogenes based on biochemical assays, where Klebsiella isolates differed in D-trehalose and succinate alkalisation tests. During fall 2021-2023, the disease has spread all the pearl millet-growing districts of the state, extending up to 70% disease incidence in the affected fields. The disease is causing considering grain as well as fodder losses. The proposed scale, consisting of six levels (0-5), is developed where scores 0, 1, 2, 3, 4, and 5 have been categorized as highly resistant, resistant, moderately resistant, moderately susceptible, susceptible, and highly susceptible disease reaction, respectively. The disease cycle, survival of pathogen, and possible losses have also been studied to understand other features of the disease.

Clinical Study of Menstruation Pattern according to Sasang Constitutional Diseases (사상체질 병증별 월경 양상의 임상 연구)

  • Lim, Sung-Rak;Kim, Koo;Oh, Seung-Yun;Kwon, Young-Mi;Joo, Jong-Cheon
    • Journal of Sasang Constitutional Medicine
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    • v.21 no.1
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    • pp.217-226
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    • 2009
  • 1. Objective To investigate characteristics of menstrual patterns according to Sasang Constitutional disease, and to utilize for diagnosis and treatment of Sasang Constitutional disease. 2. Method The recruited subjects were 430 women who convinced their Sasang Constitution by taking herbal medicine and improving of chief complaint. The items of data contain age at menarche, age at menopause, menstrual cycle, menstrual duration, cyclic regularity of menstruation, severity of menstrual pain, the worst day of menstrual pain, type of menstrual pain, amount of menstruation. 3. Results 1) Severity of menstrual pain, the worst day of menstrual pain, menstrual pain accompanied with nausea were significant among Sasang Constitutional diseases. 2) In Bae-chu-pyo-byeong disease (背椎表病證), Wi-wan-han disease (胃院寒證), So-eum disease (少陰證) and Tae-eum disease (太陰證), menstrual pain was severer than other diseases. 3) In Hae-yeok disease and So-yang-sang-pung disease (少陽傷風證), the worst day of menstrual pain was a day before menstruation. In Hyung-gyeok-yeol disease (胸膈熱證), Tae-eum disease (太陰證), So-eum disease (少陰證), the frequency of a day after menstruation in the worst day of menstrual pain was higher than other diseases. In Wi-wan-han disease (胃院寒證), Mang-yang disease (亡陽證), the frequency of two day after menstruation in the worst day of menstrual pain was higher than other diseases. 4) In So-yang-sang-pung disease (少陽傷風證), Mang-eum disease (亡陰證), Eum-heo-o-yeol diasese (陰虛午熱證), Ul-gwang disease (鬱狂證), Tae-eum disease (太陰證), So-eum disease (少陰證), the frequency of menstrual pain accompanied with nausea were higher than other diseases. 4. Conclusion Menstrual patterns, especially menstrual pain is different among Sasang Constitutional diseases. Assessing menstrual pain can be used for diagnosing Sasang Constitutional diseases, deciding treatment course, determinating prognosis.

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Impacts of Different Pentachloronitrobenzene (quintozene) Use Patterns on Severity of Damping-off of Ginseng (Panu quinquefolitrs)

  • Reeleder, R.D;Capell, B
    • Journal of Ginseng Research
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    • v.26 no.1
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    • pp.10-16
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    • 2002
  • In replicated field trials, the efficacy of pentachloronitrobenzene (PCNB; quintozene) for control of damping-off of ginseng seedlings was found to be affected by timing of application and formulation. Application at the time of seeding and prior to placement of straw mulch was found to provide the moat consistent level of disease control. However, decline in plant stand during the four-year production cycle resulted in most treatments providing similar levels of plant populations at harvest. Soil residues of pentachloronitrobenzene were generally highest (1 $\mu\textrm{g}$ PCNB/g soil) in those treatments that exhibited the highest levels of disease control in the seedling year. Straw contained high levels of quintozene after application. Beet seed assays with artificially-infested soils indicated that current use rates provide an amount of product suitable for high levels of disease control.

Phosphorus and Base Cation Inputs through Litterfall Components in Pine Forests after Tree Removal Due to Pine Wilt Disease Disturbance

  • Baek, Gyeongwon;Kim, Seongjun;Kim, Choonsig
    • Journal of Korean Society of Forest Science
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    • v.108 no.3
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    • pp.296-301
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    • 2019
  • This study was conducted to measure litterfall and nutrient (P, K, Ca, Mg) inputs under varying degrees of disturbance by pine wilt disease in pine forests in southern Korea. Litterfall was collected to evaluate nutrient responses at different intensities of disturbance (various levels of basal area) by pine wilt disease across 2 years. Phosphorus, Ca, and Mg concentrations in needle litterfall were positively correlated (p < 0.05) with decreased disturbance intensities (increased basal area) depending on the time of sampling, whereas the nutrient concentrations in other litterfall components (branches, bark, reproductive organs, and miscellaneous litterfall) were not significantly correlated (p > 0.05) with the intensity of pine wilt disease disturbance. Dry weight and nutrient inputs through litterfall components decreased linearly with increasing intensity of disturbance by pine wilt disease (p < 0.05), except for the nutrient inputs of branch (K, Ca, Mg) and reproductive organ (K, Ca) litterfall. These results indicate that decreased litterfall across different levels of disturbance may be related to the reduced soil nutrients in pine wilt disease forests.

Optimization of the Bacteriophage Cocktail for the Prevention of Brown Blotch Disease Caused by Pseudomonas tolaasii

  • Yun, Yeong-Bae;Um, Yurry;Kim, Young-Kee
    • The Plant Pathology Journal
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    • v.38 no.5
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    • pp.472-481
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    • 2022
  • Brown blotch disease, caused by Pseudomonas tolaasii, is one of the most serious diseases in mushroom cultivation, and its control remains an important issue. This study isolated and evaluated pathogen-specific bacteriophages for the biological control of the disease. In previous studies, 23 varieties of P. tolaasii were isolated from infected mushrooms with disease symptoms and classified into three subtypes, Ptα, Ptβ, and Ptγ, based on their 16S rRNA gene sequences analysis and pathogenic characters. In this study, 42 virulent bacteriophages were isolated against these pathogens and tested for their host range. Some phages could lyse more than two pathogens only within the corresponding subtype, and no phage exhibited a wide host range across different pathogen subtypes. To eliminate all pathogens of the Ptα, Ptβ, and Ptγ subtype, corresponding phages of one, six, and one strains were required, respectively. These phages were able to suppress the disease completely, as confirmed by the field-scale on-farm cultivation experiments. These results suggested that a cocktail of these eight phages is sufficient to control the disease induced by all 23 P. tolaasii pathogens. Additionally, the antibacterial effect of this phage cocktail persisted in the second cycle of mushroom growth on the cultivation bed.