• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Korean Journal of Animal Reproduction
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• v.17 no.4
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• pp.295-303
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• 1994

The present study was conducted to examine the reprodutive performance and organs autopsy of culled dairy cows at alpine area. 795 culled dairy cows were managed and 206 culled dairy cows were examined by autopsy of reproductive organs at above 800m of sea level around the Daegwallryoung alpine area. The results of this study were at follows ; 1. Age and parity of culled dairy cows were 60.8 months and 3.0, respectively. 2. Age of first AI of heifer was 18.7 months, and age of pregnancy and parturition of heifer were 19.5 months and 28.6 months, respectively. 3. Al time per pregnancy was 1.7 and time of pregnancy after parturition, pregnancy period and calving interval were 140.9, 279.6 and 424.9 days, respectively. 4. Culled months after last parturition was 4.3 and the highest urogenital deseases of culled reason were 358(45.0%). 5. Reproductive organs deseases by autopsy were 120(58.4%), the highest ovary disease were 75(43.6%). 6. The highest ovary adhesions of reproductive organ diseases were 46(26.7%), infundibulum adhesion, obstruction of the oviduct and endometritis were 38(22.1%), 15(8.7%), and 14(8.2%), respectively. 7. In culled dairy cow for the reproductive organ disease, parity, age, culled months and AI number after last parturition were 3.2, 66.5 months, 7.9 months and 2.1, respectively.

• The Journal of Pediatrics of Korean Medicine
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• v.25 no.1
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• pp.119-127
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• 2011

Objectives: The purpose of this study is to evaluate the parents' awareness on the oriental medical treatment and their expectation on children's growth. Methods: The survey was conducted on 78 Health Kids Fair visitors, and 87 children's height and weight were measured in this study. Results: 1. Compare to other treatment, 62.82% of the parents responded that herbal medicine is relatively effective in treating weakness, followed by 'Allergic disease'(46.15%) 'Growth disturbance'(26.92%) 'Obesity'(26.92%) 'Respiratory disease'(26.92%) 'Digestive disease'(19.23%) 'Precocious puberty'(8.97%) 'Neurologic & psychologic disease'(6.41%) 'Urogenital disease'(3.85%). 2. Parents recognize that 'Oriental medicine have an effect on children's height mostly'(25.64%) 'Oriental medicine have an effect on children's height partially'(64.10%) 'Oriental medicine have no effect on children's height'(10.26%) 25.64% of the parents responded that herbal medicine would be helpful in increasing height, 64.10% of the parents said they would be helpful to the certain extent, and 10.26% said they would not play any roles. 3. Expected average weight, height, and BMI score for the boys were 71.8kg, 179.6cm and 22.10. For the girls, however, they were 53.4kg, 168.7, and 18.74. 4. Survey on parents' awareness on benefits of different treatments for challenged growth, Herbal medicine'(48.72%) 'Acupuncture'(7.69%), 'Moxibustion'(3.85%), 'Electronic acupuncture and Aqua acupuncture'(1.28%), 'Massage on acupuncture point'(19.23%), 'Consultation of eating habits'(61.54%), 'Consultation of exercise'(47.44%) were measured. Conclusions: Considering the collected results, we realized that the parents' expected height on their children was, in fact, higher than the standard height. In addition, for treatments for their children's growth improvement, parents expected that 'Herbal madicine' 'Massage on acupuncture point' 'Consultation of eating habits' 'Consultation of exercise would be beneficial.

• Tuberculosis and Respiratory Diseases
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• v.71 no.6
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• pp.476-479
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• 2011

The Streptococcus milleri group, which also includes S. anginosus, S. intermedius and S. constellatus, is found in the oropharynx, upper respiratory tract, gastrointestinal tract, and urogenital tract mucosa. Bacteria in the Streptococcus milleri group are associated with bacteremia and abscess formation. Most of the reports of of Streptococcus milleri group (SMG) infection occur in patients with underlying medical conditions. Predisposing factors that have been associated with S. milleri group empyema include mucosal disturbances (sinusitis, periodontal disease, enteric disease), preceding to pneumonia, thoracic surgery, malignancy, neurological disease, alcohol abuse, and also diabetes mellitus. We report on a 42-year-old man with mental retardation. He who suffered from dyspnea and a fever that he had developed for over 14 days. S. constellatus and anaerobic bacterias (Prevotella buccae and Micromonas micros) were cultured. The patient was treated with the drainage of pleural effusion and clindamycin and levofloxacin.

• The Korean Journal of Rehabilitation Nursing
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• v.8 no.2
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• pp.119-128
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• 2005

Purpose: The purpose of this study was to analyze research in the Korean Journal of Rehabilitation Nursing and to suggest further perspective for rehabilitation nursing research. Method: In this study we reviewed the contents of 134 articles published in this journal from its beginning year 1998 to 2004. Results: The majority of subjects were adult patients. The type of disease were Cerebrovascular Accident, Neuromuscular disease, Cancer patients, Urogenital disease such as Chronic Renal Failure, Spinal cord injury. Domain of research almost was client, type of research were survey(34.3%), quasi experimental study(20.9%), correlation study(19.4%). Nursing intervention of experimental study was exercise(39.0%), education(17.1%). Place of data collection was hospital (58.2%), position of researcher was professor(67.2%), method of data collection was questionnaire(50.7%). Conclusion: There has been a lack of written consent, child rehabilitation, measurement tool development, qualitative research. More studies about rehabilitation nursing are needed to extend the role and fields for professional nursing.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.71-75
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• 2019

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

• Korean Journal of Clinical Laboratory Science
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• v.45 no.4
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• pp.144-148
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• 2013

Candida spp. are yeast form fungi, which cause an opportunistic infections in a immune suppressed patients however it is a normal flora of the respiratory system, the gastrointestinal system, and the urogenital system of healthy person. It is investigated that the distribution of Candida spp. cause an oral disease from oral cavity of healthy people and also identified Candia dubliniensis. Distribution and identification of the yeast form fungi in oral cavities of healthy people was investigated by an automatic identifier, VITEK2 system. We found 21 strains of Candida albicans, 3 strains of Candida famata, one strain of Candida tropicalis, Candida haemulonii, Candida krusei, and Candida dubliniensis. In addition, one strain of Cryptococcus spp., Saccharomyces spp., and two unknown strains were isolated. Candida dubliniensis which forms a mass by more than 2 chlamydospores was isolated from a healthy person for the first time. Candida dubliniensis was not grown at $42^{\circ}C$ whereas Candida albicans was grown well. It is known that Candida dubliniencis was isolated in AIDS while it is found in healthy people from this study, which will be helpful to investigate the distribution of Candida spp.

• Journal of Society of Preventive Korean Medicine
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• v.19 no.2
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• pp.113-121
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• 2015

Objective : This study was aimed to classify diseases that Traditional Chinese Medicine(TCM) is better at treating. Method : Literature was searched on China National Knowledge Infrastructure(CNKI) and categorized according to literature type, published date and research method. Studied six types of research papers and four types of published books. Results : Experts were surveyed and interviewed, medical records were studied retrospectively, and doubleblind method was used in selecting diseases that TCM was better at treating. There were a total of 372 diseases that TCM was better at treating. By the KCD classification, 45 were in gastrointestinal (12.1%), 39 in urogenital (10.5%), 36 in circulatory (9.7%), 35 in musculoskeletal or connective tissues (9.4%). Conclusion : Total of 372 diseases were classified as diseases that TCM was better at treating, and if the results are used adequately, the values of western and TCM can be maximized and benefit the government, patients and the medical practitioners.

• Women's Health Nursing
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• v.8 no.2
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• pp.151-164
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• 2002

PURPOSE: Estrogen replacement therapy is indicated for the relief of hot flushes and urogenital atrophy, the prevention of osteoporosis and the reduction in risk of cardiovascular disease. The present study assessed by blood pressure, heart rate variability, and climacteric symptoms in menopausal women before treatment and at 1 month during estrogen replacement therapy. METHODS: The study sample consisted of 16 healthy menopausal women (range 49 to 59 years, mean : 53.4 years) attending menopausal clinics for the complaint of climateric symptoms at S. hospital in Chunchoen. They were all non-smokers and no patient had symptoms or evidence of cardiovascular disease. They took estrogen replacement therapy (conjugated estrogen 0.625 mg with or without medroxy progesteron 2.5mg) for 1 month. Blood pressure, heart rate variability(heart period and vagal tone) through ECG, and climacteric symptom were measured in all subjects before treatment and at 1 month during treatment. Climacteric symptom questionnaire which was developed by Neugarten et al.(1963) was modified with 20 items of question(Cronbach's alpha = 88 -.89). The data was collected from Sept. 1. 2000 to July. 30. 2001. RESULTS: There was no significant difference in mean systolic and diastolic pressure between the baseline and at 1 month during treatment. The mean heart period and vagal tone were slightly increased, but difference of mean heart period and vagal tone were not statistically significant between the baseline and at 1 month during treatment. The score of climacteric symptoms decreased significantly from the baseline after treatment. CONCLUSIONS: Even though, this study did not show that estrogen replacement therapy led decrease of blood pressure and increase heart rate variability, climacteric symptoms reduced much in all subjects after taking drugs. These results suggest that there is need to repeat study with long term period.

• The Journal of Pediatrics of Korean Medicine
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• v.24 no.2
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• pp.112-125
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• 2010

Objectives The purpose of this study is to find the relationships between the allergy and weakness in children in Seong-Dong district. Methods 802 day care centers children were participated for survey on allergic disease, risk factors, and weakness. From the result, we analyzed the relationships between the aforementioned factors. Results 1. 802 children were participated for the survey. We eliminated survey answers with unclear answers, and selected 792 survey sheets as our final subject of study. The age of majority of subjects(720 children) were between one to six years old, and the others were under the age of one and over seven. 2. The prevalence rate of asthma in a lifetime was 6.69%, allergic rhinitis was 14.87%, atopic dermatitis was 28.82%, allergic conjunctivitis was 6.29%, food allergies was 9.58%, and drug allergies was 1.4%. In 2009, the prevalence rate of allergies during treatments is 6.69% for asthma, 13.41% for allergic rhinitis, 13.64% for atopic dermatitis, 4.13% for allergic conjunctivitis, 5.23% for food allergies, 0.96% for drug allergies. 3. The significant risk factors were types of dwelling, pet with fur, dirty environments without vacuum cleaners, the numbers of times bed covers were washed, frequency of air ventilation, changes in body after moving, family history. 4. The distribution of the number of children with weakness within the five visceras were respiratory weakness, digestive weakness, psychoneurologic weakness, neuromotor weakness, and urogenital weakness in the order of most to the least. More specifically, children who only has respiratory weakness were the majority, while children who have respiratory and digestive weaknesses, children who have respiratory, digestive, and psychoneurologic weaknesses, children who have respiratory and psychoneurologic were followed. 5. With the exception of children with urogenital weakness, Most of the children with respiratory weakness, digestive weakness, psychoneurologic weakness, and neuromotor weakness had been treated for allergies in 2009, while children who were diagnosed with allergic diseases at least once in their lifetime most likely had weak respiratory, digestive or psychoneurologic systems. Conclusions The results of this study showed that there was a correlation between children with weak viscera and children with allergic diseases. However, further research would be necessary.