• Title/Summary/Keyword: PKU

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Conservative treatment of corpus callosum hemorrhage due to a falling coconut in Indonesia: a case report

  • Hanan Anwar Rusidi;Ferry Wijanarko
    • Journal of Trauma and Injury
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    • v.37 no.1
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    • pp.79-82
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    • 2024
  • The potential for traumatic brain injury resulting from falling coconuts is frequently overlooked. These incidents can cause focal lesions in the form of brain hemorrhage. Corpus callosum hemorrhage due to blunt trauma from a falling object is rare and typically associated with poor prognosis. The purpose of this report is to detail a case of corpus callosum hemorrhage caused by a coconut fall and to discuss the conservative management approach employed. We report the case of a 54-year-old woman who was admitted to the hospital with symptoms of unconsciousness, headache, and expressive aphasia after being struck by a falling coconut. Notably, hemorrhage was detected within the body of the corpus callosum, as revealed by imaging findings. The patient received intensive monitoring and treatment in the intensive care unit, including oxygen therapy, saline infusion, an osmotic diuretic, analgesics, and medication to prevent stress ulcers. The patient demonstrated marked clinical improvement while undergoing conservative treatment. Despite the typically unfavorable prognosis of these rare injuries, our patient exhibited meaningful clinical improvement with conservative treatment. Timely diagnosis and appropriate interventions were crucial in managing the patient's condition. This report emphasizes the importance of considering traumatic brain injury caused by falling coconuts and highlights the need for further research and awareness in this area.

건강관리 사례담50-건협 부산지부의 선천성 대사이상 검사

  • KOREA ASSOCIATION OF HEALTH PROMOTION
    • 건강소식
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    • v.14 no.6 s.139
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    • pp.2-5
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    • 1990
  • 건협 부산지부는 지난해부터 선천성대사이상질환 중 페닐케톤뇨증(PKU)에 대한 검사를 실시해, 관련 의료기관으로부터 좋은 반응을 불러 일으키고 있다. 지난해 2월부터 검사의 필요성에 대한 계몽작업을 시작해 지금까지 가검물수집, 검사, 결과통보까지 성실히 수행해 오고 있는 부산지부는, 지난해의 검사에 대한 평가를 통해 올해에는 선천성 대사이상 질환의 발견율을 증가시키기 위해 검사종목의 확대 등에 대한 계획을 수립, 진행시키고 있다. 부산지역 내 신생아 건강관리에 일익을 담당하고 있는 이 검사사업이 전국적으로 확대되어 정신박약아의 발생을 사전에 예방할 수 있게 되기를 바라면서 부산지부의 검사 실시 과정과 앞으로의 계획을 들어보기로 한다.

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Die stress and Process of Analysis for Condenser Tube Extrusion by using a Porthole Die (포트홀 다이를 이용한 컨덴서 튜브 직접압출 공정해석 및 금형강도 해석)

  • Lee, J. M.;lee, S. K.;Kim, B. M.;Jo, H. H.;Jo, H.
    • Proceedings of the Korean Society of Precision Engineering Conference
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    • 2002.05a
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    • pp.1030-1033
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    • 2002
  • In this study, it is important that we have an understanding of the metal flow for manufacturing condenser tube in porthole die extrusion, because this need to provide for household appliances market that is expected to grow into the major market of the cooling system hereafter. Condenser tube is mainly manufactured by conform exclusion. However, this method was not satisfied a series of the needs for manufacturing condenser tube as compared with porthole die extrusion. The deforming skill recently is required high-productivity, high-accuracy and reducing lead-time, thus it is essential to substitute conform exclusion by porthole die exclusion. Porthole die extrusion has many advantages such as improvement of productivity, reduction of production cost etc. In general, the porthole die extrusion process consists of three stages(dividing, welding and forming stages). In order to obtain the detailed mechanics, to assist in the design of proper die shapes and sizes, and to improve the quality of products, porthole die extrusion should be analyzed in as non-steady state as possible during the entire process to evaluate detailed metal flow, temperature distribution, welding pressure and extrusion lead, and therm stress analysis was practiced to obtain effective stress and elastic deformation value. A analytical results provide useful information the optimal design of the porthole die for condenser tube.

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The Study on Characteristic and the Actual Condition of General Infant Formula and Special Infant Formula Published in Nation (국내(國內) 시판중(市販中)인 일반조제분유와 특수분유의 특성(特性)과 실태연구(實態硏究))

  • Lee Seoung-Hee;Kim Jang-Hyun
    • The Journal of Pediatrics of Korean Medicine
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    • v.13 no.2
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    • pp.41-77
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    • 1999
  • The purpose of this research is that infant artificial feeding products is used in clonic with the study on characteristic, ingredients and indication of geneal and special modified milks. The result is as follows. 1. The main ingredients of four company products-Maeil , Namyang, Pasteur, Aebout is similar but the functional is different 2. General infant formula is divided into 100days, 5-6months, 12months, 24months and 36months out of consideration for growth and development of infant. 3. The indication and sorts of the special infant formula used at a hospital is as follows. PKU-1, PKU-2 formula is available for phenylketonuria. MPA formula is available for propionic acidemia and methylmalonic acidomia. UCD is available for urea cycle disorder Leucine-free formula is available for isovaleric acidemia. Maeil LP is available for hypocalcemia. MCT formula is available for indigestion and malabsorption of fat. BCAA-free formula is available for Maple syrup urine disease. Protein-free formula is available for limit of protein uptake or mixture of peculiar amino acid or higher uptake of mineral, vitamin, calory. Methionine-free formula is available for homocystinuria and hypermethioninemia. Premature infant is available for premature and low birth weight. 4. The special infant formula published in nation is as follows. Maeil soy A, Maeil MF1, Namyang hope doctor and Maeil HA is available for diarrhea. Maeil HA, Maeil HA-21 and Namyang hope allergy is available for hypoallergy. Maeil soy A is available for diarrhea of milk allergy. Maeil MF1 or Namyang hope doctor is available for acute bacterial or viral temporal diarrhea. Maeil HA is available for allergic chronic diarrhea. Maeil HA and Namyang hope allergy as eHP-formula is available for chronic diarrhea for lactose intolerance and milk allergy. Maeil-21 as pHP-formula for neonates with allergy family, allergic symptoms such as atopic dermatitis, asthma except digestive system.

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Ten Cases of R53H Variant of PAH Gene in Benign Hyperphenylalaninemia (PAH 유전자의 R53H 유전자변이를 보인 양성 고페닐알라닌혈증 10례)

  • Lee, Jiyun;Lee, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.1
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    • pp.11-17
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    • 2017
  • Purpose: Phenylketonuria (PKU) results from a deficiency of phenylalanine hydroxylase (PAH). The mutation of the PAH gene results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. This study reports ten cases of patients with the benign HPA genotype c.158G>A (p.Arg53His, R53H) variant in the PAH gene and aims to evaluate the clinical significance of the R53H variant. Methods: Ten Korean patients with the HPA genotype the R53H variant were included in this study. A retrospective medical record review was conducted. We characterized the phenotypes of the patients with HPA with the R53H variant using the following system: classic PKU, moderate PKU, mild PKU, Mild HPA, and benign HPA. Results: Five patients had the R53H variant with the "Pathogenic" variants (R413P, R241C, $Y356^*$, c.442-1G>A, $Y325^*$), Two patients had the "Likely pathogenic" variants ($W187^*$, A259T), Two patients had the "Uncertain significance" variants (R53H, G344D), and One patient had the "Not provided" variant (c.1066-14C>G). Nine patients genotyped with the R53H variant were the patient with benign HPA and One patient genotyped with the R53H homozygote was within normal range of plasma phenylalanine. None of the ten patients required dietary restriction of phenylalanine or pharmacotherapy to maintain their plasma phenylalanine levels and showed no clinical symptoms of HPA. Conclusion: Ten patients with HPA genotype the R53H variant were the patient with benign HPA and showed no clinical symptoms of HPA. Thus, the R53H variant, which was previously classified as an "Uncertain significance" mutation in HPA patients, should be re-classified as "Benign."

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A Study on Effectiveness of Conventional Phenylalanine Loading before BH4 Loading Test in Children with Hyperphenylalaninemia (고페닐알라닌혈증 환아들에게 BH4 부하검사 이전에 시행되는 페닐알라닌 부하의 효과에 대한 고찰)

  • Park, Youngcheon;Kim, Kang-in;Lee, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.2
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    • pp.86-92
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    • 2016
  • Purpose: The $BH_4$ loading test is an important test that distinguishes PKU from $BH_4$ deficiency and identifies the $BH_4$ reactivity of PKU patients. Phenylalanine and $BH_4$ loading tests are useful methods that can shorten the length of hospital stay while improving patients' convenience. However, sufficient research on the dose of phenylalanine loading and $BH_4$ administration time after the loading has not been carried out. The present study investigates the effectiveness of the existing phenylalanine loading method by analyzing the medical records of six patients who underwent the $BH_4$ loading test after taking 100 mg/kg of phenylalanine patients. Methods: The medical records of six patients who underwent the $BH_4$ load test after taking 100 mg/kg of phenylalanine were examined out of 207 patients who were followed up in the Genetic Metabolic Clinic in Soonchunhyang University Hospital. All of the six patients had a low phenylalanine diet. First, they were taking 100 mg/kg of phenylalanine. 3 hours later, 20 mg/kg of $BH_4$ were loaded. The phenylalanine levels in the blood were continuously measured at 1, 2, 4, 6, 8, 12, and 24 hours by setting the time the $BH_4$ was loaded as the basal. Results: The average of the highest phenylalanine concentrations of six patients was $20.0{\pm}11.70mg/dL$. One reached the highest concentration seven hours after taking phenylalanine; another reached it five hours after that, and the remaining three reached it four hours after that. Only one patient reached the highest concentration within three hours. The phenylalanine levels of four out of six patients (66%) rose above $400{\mu}mol/L$ after being loaded with phenylalanine. The phenylalanine levels of the remaining two were 6.1 mg/dL ($366{\mu}mol/L$) and 5 mg/dL ($300{\mu}mol/L$), respectively. Conclusion: One of six patients (16%) reached the highest concentration three hours after taking 100 mg/kg of phenylalanine and four patients (66%) reached $400{\mu}mol/L$ or higher phenylalanine levels. There were patients whose phenylalanine levels did not rise above $400{\mu}mol/L$ using a commonly known test method; moreover, this method had the disadvantage of reaching the highest concentration after more than three hours. Therefore, it is considered that taking 200 mg/kg or more of phenylalanine and performing $BH_4$ loading four to six hours after taking phenylalanine are helpful in proper diagnosis.

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A Study of Rheology Properties of AM50A Magnesium Alloy (AM50A 마그네슘합금의 레오로지 특성에 관한 연구)

  • Han S.H.;Lee J.H.;Kang C.G.
    • Proceedings of the Korean Society of Precision Engineering Conference
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    • 2006.05a
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    • pp.431-432
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    • 2006
  • In this study, the effect of the temperature of magnesium slurry was investigated by mechanical stirring method. The evaluations of rheological behavior of AM50A magnesium alloy were measuring of viscosity and microstructures in the semisolid state. The apparent viscosity was investigated at continuous cooling rate using a concentric cylinder viscometer. Measurement of viscosity measures torque that act to stirrer rotating in slurry doing continuous cooling using torque-meter and expressed by POWER-LAW. Microstructures were observed after mechanical stirring that enforce time at steady state temperature of solid fraction.

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Path Planning of an Autonomous Mobile Robot Based on Genetic Algorithms (유전알고리즘을 이용한 자율이동로봇의 경로계획)

  • Lee, D.H.;Lee, D.H.;Lee, M.H.;Be, J.I.
    • Proceedings of the KIEE Conference
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    • 2000.07d
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    • pp.2846-2848
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    • 2000
  • In this paper we propose a path planning method for an autonomous mobile robot based on genetic algorithms(GAs). There have been a number of methods proposed for the path planning of a mobile robot. However, few algorithms have been developed for an on-line path planning of a mobile robot with the uncertain information of a task environment. Therefore, we propose a path planning algorithms based on GAs that has ability of creating path planning without the perfect information of a task environment and an ability of planning the efficient path by on-line process. Then we show a possibility of the practical use with the results of simulations and experiments.

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Restriction Map of the R Plasmid pKU10 in Pseudomonas putida (Pseudomonas putida에 내재하는 Plasmid pKU10의 제한지도)

  • 전성희;임영복;심웅섭;이영록
    • Korean Journal of Microbiology
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    • v.29 no.4
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    • pp.226-229
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    • 1991
  • In our laboratory a R plasmid pKU10 was isolated from Pseudomonas and its characteristics were investigated. In this study, as a basic work to improve its utility as a cloning vehicle, restriction patterns of pKU10 were analyzed for other various restriction enzymes in addition to restriction evdonucleases previously examined. As a result, pKU10 DNA has two cleavage sites for ClaI and HpaI, and three sites for AvaI. The restriction map of pKU10 was supplemented with AvaI, ClaI, and HpaI. From the result of this experiment, the usefulness of PKU10 as a cloning vector in Pseudomonas will be enhanced by constructions of mini-plasmid or hybrid plasmids.

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Comparison of Chlorophyll Algorithms in the Bohai Sea of China

  • Xiu, Peng;Liu, Yuguang;Rong, Zengrui;Zong, Haibo;Li, Gang;Xing, Xinogang;Cheng, Yongcun
    • Ocean Science Journal
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    • v.42 no.4
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    • pp.199-209
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    • 2007
  • Empirical band-ratio algorithms and artificial neural network techniques to retrieve sea surface chlorophyll concentrations were evaluated in the Bohai Sea of China by using an extensive field observation data set. Bohai Sea represents an example of optically complex case II waters with high concentrations of colored dissolved organic mattei (CDOM). The data set includes coincident measurements of radiometric quantities and chlorophyll a concentration (Chl), which were taken on 8 cruises between 2003 and 2005, The data covers a range of variability in Chl in surface waters from 0.3 to 6.5 mg $m^{-3}$. The comparison results showed that these empirical algorithms developed for case I and case II waters can not be applied directly to the Bohai Sea of china, because of significant biases. For example, the mean normalized bias (MNB) for OC4V4 product was 1.85 and the root mean square (RMS) error is 2.26.