• Title/Summary/Keyword: C7 deficiency

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A Case of Deficiency of the Seventh Component of Complement with Recurrence of Meningococcal Meningitis and Septicemia (C7 결핍증과 연관된 재발성 수막구균 혈증 1례)

  • Lee, Jong-Seung;Yoo, Jung-Min;Yoo, Soo-Jung;Ko, Tae-Sung;Yoo, Han-Wook
    • Pediatric Infection and Vaccine
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    • v.11 no.2
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    • pp.212-215
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    • 2004
  • The complement system is important in the generation of the normal inflammatory response and in host defense against systemic infection. Therefore, inherited or acquired deficiency of complement is associated with an increased frequency of infection. As a major effector of the complement cascade, the membrane attack complex is responsible for direct complement dependent serum bactericidal activity. Especially late complement component deficiency has a markedly increased risk of meningococcal infection and is subject to recurrent infection. We experienced a patient who had recurrent meningococcal meningitis and septicemia. The patient was 13-years old boy and he had a recurrent episode after 20 months. At second admission, we examined complement level and C7 deficiency was confirmed. He was treated without complication. We report a case of deficiency of C7 with recurrent meningococcal meningitis and septicemia.

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Cooling Performance Deficiency of Air Conditioning System According to Air Quantity Included in Refrigerant (냉매 내 공기혼입에 따른 에어컨 시스템의 냉각성능 저하)

  • Moon, Seong-Won;Min, Young-Bong;Chung, Tae-Sang
    • Journal of Biosystems Engineering
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    • v.34 no.6
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    • pp.470-475
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    • 2009
  • This study was performed to present the diagnosis basis of cooling performance deficiency according to air quantity included in refrigerant of air-conditioner by detecting the temperatures and pressures of refrigerant pipeline. The car air-conditioner of SONATA III (Hyundai motor Co., Korea) was tested by maximum cooling condition at 1500 rpm of engine speed in the room with controlled air condition at $33\sim35^{\circ}C$ and 55~57% RH. Measured variables were temperature differences between inlet and outlet pipe surface of the compressor (Tcom), condenser (Tcon), receive dryer (Trec) and evaporator (Teva), and high pressure (HP) and low pressure (LP) in the refrigerant pipeline, and temperature difference (Tcoo) between inlet and outlet air of the cooling vent of evaporator. Control variables were the refrigerant charging weight and the vacuum degree in the refrigerant pipeline before charging refrigerant. From the test, it was represented that the measuring values of (Tcom), LP and (Tcoo) were enabled to make the diagnosis of cooling performance deficiency according to quantity included in refrigerant of air-conditioner. The ranges of Tcom, LP and Tcoo to make the diagnosis of cooling performance deficiency were respectively less than $55^{\circ}C$, more than 166.7 kPa-g(1.7 kgf/$cm^2$) and less than $13.7^{\circ}C$. In the case of using only external sensors and the condition under the normal performances of air conditioner, it was considered that the ranges of LP and Tcoo to make the diagnosis of cooling performance deficiency were respectively more than 166.7 Pa and less than $12^{\circ}C$.

Assessment of Dietary Iron Availability and Analysis of Dietary Factors Affecting Hematological Indices in Iron Deficiency Anemic Female High School Students (철결핍성 빈혈 여고생의 철분이용률 평가 및 철분영양지표에 영향을 미치는 영양요인 분석)

  • 안홍석
    • Journal of Nutrition and Health
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    • v.32 no.7
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    • pp.787-792
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    • 1999
  • The purpose of this study was to estimate the iron availability and to analyze dietary factors which influence hematological indices of 130 female adolescents with iron deficiency anemia. Intakes of iron and other nutrients were estimated using a self-administrated questionnaire combined with the 24-hour recall mehtod and iron availability was calculated by Monsen's method. Mean daily intakes of calorie, protein and vitamin C were 1631.0kcal(77.7% of RDA), 54.7g(84.2% of RDA) and 45.7mg(83.0% of RDA), respectively. In terms of iron, mean daily intake was 8.7mg(48.3% of RDA) and heme iron intake was 3.0mg which correspond to 34% of total iron intake. The amount of total absorbable iron was 1.5mg and the estimated bioavailability of dietary iron was 17.2%. In summary, intake of several nutrients for most of the subjects were under RDA. Dietary factors affecting hematological indices were analyzed by stepwise multiple regression. Intake of vitamin C was a major determinant of Hb level, while both intake of enhancing factor and iron availability were major determinants of serum ferritin level. In conclusion proper nutritional education and guidance for iron deficiency anemic female adoalescent needs to be developed and to improve their iron storage should be increased intakes of enhancing factors, female adoalescents.

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A Case of Ornithine Transcarbamylase Deficiency in 11-month-old Female who Presented Periodic Vomiting and Intermittent Consciousness Change (반복적인 구토 및 간헐적 의식 변화를 주소로 진단된 Ornithine Transcarbamylase Deficiency 여아 1례)

  • Kim, Jin Ah;Kim, Jin Sup;Huh, Rimm;Cho, Sung Yoon;Jin, Dong Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.3
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    • pp.165-170
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    • 2015
  • Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder of urea synthesis in newborns. It is the most common urea cycle disorder and leads to elevated levels of ammonia in the blood. Excessive ammonia can cause various symptoms, including vomiting, lethargy, and coma. Boys have a more serious form of OTC deficiency than girls. If not treated immediately, severe OTC deficiency can lead to neurologic abnormalities, hyperammonemic coma, and death. Because late-onset OTC deficiency, which is more common in girls, presents mild symptoms, it is easy to miss diagnosis and prompt treatment. We describe an 11-month-old girl who presented periodic vomiting, intermittent lethargy, and seizure. She was diagnosed with OTC deficiency by elevated serum ammonia and urine orotic acid levels. Genetic analysis of the OTC gene revealed a missense mutation in exon 5 (c.418G>C). We reported an experience of exact diagnosis and successful treatment of late-onset OTC deficiency in our patient.

Vitamin D status and its association with cardiometabolic risk factors in Korean adults based on a 2008-2010 Korean National Health and Nutrition Examination Survey

  • Chung, Ji-Youn;Hong, Sung-Ho
    • Nutrition Research and Practice
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    • v.7 no.6
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    • pp.495-502
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    • 2013
  • Recent studies suggest that vitamin D deficiency and cardiometabolic disorders are becoming increasingly more prevalent across multiple populations. However, there is a lack of comprehensive data for Korean adults. We investigated the vitamin D status, the prevalence of vitamin D deficiency and its association with metabolic syndrome (MS) risk in Korean adults aged 20 years or older. The study subjects (n = 18,305) were individuals who participated in the Korean National Health Examination and Nutrition Survey (KNHANES) in 2008-2010. Vitamin D status (25-hydroxyvitamin D [25(OH)D]) was categorized as < 20, 21-29, and ${\geq}$ 30 ng/mL, which are the cut-off points for deficiency, insufficiency and normal limits. A wide variety of cardiometabolic risk factors were compared according to the vitamin D status. Vitamin D deficiency was found in 53.9% of men and 70.5% of women. Mean BMI, systolic BP, HbA1c and low density lipoprotein cholesterol (LDL-C) were highest in the vitamin D deficiency group in both genders. Further, the MS was most prevalent in the vitamin D deficiency group in both genders (12.3%, P = 0.002 in men and 9.2%, P < 0.001 in women). Compared to the vitamin D normal group, the adjusted odds ratio (ORs) (95% confidence interval [95% CI]) for MS in the vitamin D deficiency group were 1.46 (1.05-2.02) in men and 1.60 (1.21-2.11) in women, after adjusting for confounding variables. In conclusion, Vitamin D deficiency is a very common health problem in Korean adults and is independently associated with the increasing risk of MS.

Effect of vitamin C deficiency on the rate of orthodontic tooth movement and alveolar bone remodeling (비타민 C 결핍이 guinea pig의 실험적 치아이동속도와 치조골 개조에 미치는 영향)

  • Kim, Mi-Kyung;Lee, Young-Jun;Lee, Ki-Soo
    • The korean journal of orthodontics
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    • v.35 no.3 s.110
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    • pp.196-206
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    • 2005
  • This study was undertaken to investigate the effect of vitamin C deficiency on the orthodontic tooth movement and bony remodeling processes. Thirty six male guinea pigs were divided on the basis of the given amount of vitamin C (normal group: 5mg/day, deficient group: 0.2mg/day) and 75gm of force was applied to the maxillary incisors. Experimental animals were sacrificed at day 0. day 1 day 3, day 5. day 7 and day 14 after force application and the amount of tooth movement was measured and tissues were studied histologically. The results showed that the amount of collagen fiber in the periodontal ligament and alveolar bone of the deficient group was less than that of the normal group. In the stretched side. the osteoblastic activity and alveolar bone formation of the normal group increased in a time dependent manner during experimental periods, but the deficient group showed less activity and formation. The amount of tooth movement in the deficiency group was more than in the normal group at day 0. day 1, day 3, day 5, and day 7. According to the above results, a deficiency of vitamin C resulted in a defect of collagen synthesis of the periodontium and inhibition of bone formation and stimulation of bone resorption with rapid tooth movement in early periods of force application.

A Case of Citrin Deficiency Presenting with Recurrent Hypoglycemia: Diagnosed by Targeted Exome Sequencing (반복적인 저혈당으로 엑솜 시퀀싱을 통해 31개월에 진단된 Citrin 결핍증 1례)

  • Kim, Chiwoo;Hwang, Jeongyun;Yang, Aram;Kim, Jinsup;Lee, Taeheon;Jang, Ja-Hyun;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.2
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    • pp.69-76
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    • 2017
  • Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

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Valuation and investigation of Oriental OB&GY Questionnaires (한방부인과 변증(辨證) 진단(診斷) 설문지에 대한 평가(評價)와 연구(硏究))

  • Bae, G.M.;Cho, H.S.;Kim, K.K.;Kang, C.W.;Lee, I.S.
    • The Journal of Korean Obstetrics and Gynecology
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    • v.15 no.4
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    • pp.111-127
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    • 2002
  • Purpose : This study investigated reliability of Oriental OB&GY questionnaires, valued the items and correlated relation of differentiation of syndromes of Oriental OB&GY questionnaires which is used by Dong-Eui OB&GY. Method : We analysised the result of 721 outpatients's questionnaires from March. 1. 1998 to March. 30. 2002 Results : 1. The reliability of Oriental OB&GY questionnaires above 95% is deficiency of Ki, deficiency of blood, dry of blood, deficiency of Um, stagnation of Ki, insuficiency of the kidneys, liver, heart, above 90% under 95% is deficiency of Yang, heat of constitution, heat of disease, dampness, stagnated blood, above 85% under 90% is phlegm, spleen above 80% under 85% is cold syndrom. 2. The order of frequency diagnosed by Oriental OB&GY questionnaires is dampness(78.7%), heart(66.8%), stagnation of Ki(63.8%), deficiency of blood(53.5%), deficiency of Ki(53.1%), phlegm(53.7%), insuficiency of the kidneys(50.1%), dry of blood(45.1%), spleen(41.4%), liver(36.2%), stagnated blood(36.2%), deficiency of Yang(35.6%), cold syndrom(29.8%), deficiency of Um(24.1%), heat of disease(22.5%), heat of constitution(20.1%). 3. The average of item of differentiation of syndromes above 90 is dampness, above 80 under 90 is deficiency of Ki, deficiency of blood, dry of blood, deficiency of Yang, cold syndrom, heat of constitution, stagnation of Ki, phlegm, stagnated blood, insuficiency of the kidneys, liver, heart, spleen, above 70 under 80 is deficiency of Um, heat of disease. 4. Deficiency of Ki is connected with question compounded of stagnation of Ki, deficiency of Yang is connected cold syndrom, cold syndrom is connected deficiency of Yang, stagnation of Ki is connected deficiency of Ki. 5. The differentiation of syndromes accompanied with others which is related to compounded question is deficiency of Ki, deficiency of blood, cold syndrom, stagnation of Ki, dampness, phlegm, stagnated blood, insuficiency of the kidneys, liver, heart, spleen, which isn't related to compounded question is dry of blood, deficiency of Um, deficiency of Yang, heat of disease.

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Studies on Serum Micro-mineral, Hormone and Vitamin Profile and Its Effect on Production and Therapeutic Management of Buffaloes in Haryana State of India

  • Sharma, M.C.;Raju, S.;Joshi, C.;Kaur, H.;Varshney, V.P.
    • Asian-Australasian Journal of Animal Sciences
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    • v.16 no.4
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    • pp.519-528
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    • 2003
  • A survey was conducted in certain parts of Haryana to record the prevalence of micro mineral deficiency in buffaloes. The prevalence of soil Cu, Co, Zn and Fe deficiency was 55.26%, 6.9%, 59.12% and 7.89% respectively. While that of fodder Cu, Co, Zn and Fe was 60.64%, 6.7%, 61.22% and 11.37% respectively. The overall prevalence of serum Cu, Co, Zn and Fe deficiency in Haryana was 59.2%, 19.1%, 59.2% and 19.9% respectively. The correlation co-efficient of Cu, Co, Zn and Fe in soil, fodder and serum was significant in most of the cases the values were above 0.8. Blood examination revealed significant decrease in haemoglobin and TEC level. However, no variation in level of TLC were observed in mineral deficient buffaloes. In micro mineral deficiency, thyroid hormone (T3 and T4) levels were decreased in buffaloes. Marginally lower concentration of vitamin A and E were observed in mineral deficient buffaloes in Haryana. The highest deficiency of micro minerals was 61.76% in copper at Ambala followed by 65.86% in zinc at Rhotak. For therapeutic studies a mineral mixture was prepared according to defiency obtained and fed to three groups of animals. Observation was recorded on 0, 15, 30, 45 and 60 days. Group A consist of normal healthy animals and group B mineral deficient animal untreated and group C mineral deficient animal, treated with prepared mineral mixture. 25 gram of mineral mixture was fed daily along with normal ration. There was increase in body weight, milk yield, haemoglobin concentration and total erythrocyte level in group C animals when compared to group B animals. The milk yield in group C animals increased to 6.970${\pm}$0.41 after 60th day of supplement in comparison to 0 day where it was 5.910${\pm}$0.37, similarly the body wt. of group C animals increased from 129.42${\pm}$01.13 (at 0 day) to 159.31${\pm}$03.61 at 60th day of treatment.

Study on the Benefit of Medical Herbal Cosmetics via the pattern identification about fluid-humor of skin in Traditional Korean Medicine (한방 피부 진액변증을 통한 한방화장품의 효능 평가)

  • Kim, Kyoung-Shin;Kim, Byoung-Soo
    • Journal of Haehwa Medicine
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    • v.21 no.1
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    • pp.1-9
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    • 2012
  • Objectives : The aim of this experiment is to find out relationship between the effect of cosmetics and 4 types of pattern identification about fluid-humor, which are based on the general idea of traditional oriental medicine, Qi-Blood and deficiency-excess. Methods : Korean female volunteers in good health (n=25, $23.12{\pm}2.83$) participated in this experiment. Three Korean medical doctors classified them into 4 groups: Blood-deficiency: group A; Blood-excess: group B; Qi-deficiency:group C; Qi-excess:group D). Cosmetics that contains herb extract for Blood deficiency were given to all volunteers and they used the cosmetics for 4 weeks. Volunteers were assessed non-invasively with the skin measuring devices before and after using cosmetics. And we analyzed the correlation of skin physiological parameters with 4 groups. Results : Three doctors diagnosed participants and classified them into 4 groups ; group A(n=8),group B(n=7), group C(n=3), group D(n=5) as highest score. After 4 weeks, facial skin moisture showed no significant difference in comparison between 4 groups. Sebum showed significant increase in Group A and significantly decreased Group B. Measurement of facial skin elasticity tended to increase in Group A, C, D but skin elasticity was decreased significantly in Group B. Conclusions : In case of a group that pattern identification about fluid-humor corresponds to herb extract in cosmetic, skin improving effect was better than the other group that pattern identification oppose to properties of herb in cosmetic. Therefore, from the view of traditional oriental medicine, it is very important to understand user's pattern of identification or physical conditions and properties of herbs in cosmetics on the matter of safety and efficacy.