24 research outputs found

    The Tyrosinemia Type I

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    Tyrosinemia type 1 is an autosomal recessive disorder which can be detected as early as possible after birth so that it may be treated or alleviated immediately. If untreated, the disorder can cause dysfunctions of liver, kidney, or neurological disease. There are 3 kinds of tyrosinemia; that is, tyrosinemia type 1, 2, and 3. Tyrosinemia type 1 is the most severe of these disorders. To treat or alleviate the disorder, it can be performed using nitisinone drug along with diet management and liver transplantation. Other methods, which may be used to reduce tyrosinemia type 1, are gene therapy, and, of course, genetic counseling

    Overcome Alkaptonuria

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    Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when homogentisic acid is converted to maleylacetoacetate. AKU is a rare disease affecting approximately 1 in 250,000 people. In certain areas such as Jordan, parts of South India and Slovakia, AKU may be up to ten times higher. It is caused by mutations in the HGD gene. Treatment of AKU may be performed using drugs such as nitisinone and anti-inflammatories. Researches are underway using nitisinone in order to treat AKU. Other methods, which may be used to reduce alkaptonuria, are therapy gene and, of course, genetic counseling. Keywords: Alkaptonuria, alcaptonuria, AKU, HG

    A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians.

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    BACKGROUND: There is reason to expect strong genetic influences on the risk of developing active pulmonary tuberculosis (TB) among latently infected individuals. Many of the genome wide linkage and association studies (GWAS) to date have been conducted on African populations. In order to identify additional targets in genetically dissimilar populations, and to enhance our understanding of this disease, we performed a multi-stage GWAS in a Southeast Asian cohort from Indonesia. METHODS: In stage 1, we used the Affymetrix 100 K SNP GeneChip marker set to genotype 259 Indonesian samples. After quality control filtering, 108 cases and 115 controls were analyzed for association of 95,207 SNPs. In stage 2, we attempted validation of 2,453 SNPs with promising associations from the first stage, in 1,189 individuals from the same Indonesian cohort, and finally in stage 3 we selected 251 SNPs from this stage to test TB association in an independent Caucasian cohort (n = 3,760) from Russia. RESULTS: Our study suggests evidence of association (P = 0.0004-0.0067) for 8 independent loci (nominal significance P < 0.05), which are located within or near the following genes involved in immune signaling: JAG1, DYNLRB2, EBF1, TMEFF2, CCL17, HAUS6, PENK and TXNDC4. CONCLUSIONS: Mechanisms of immune defense suggested by some of the identified genes exhibit biological plausibility and may suggest novel pathways involved in the host containment of infection with TB.RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are

    PhD, BS of Animal Science, and Faculty Member Based on Indonesia Education System

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    Academic degrees include PhD and BS of Animal Science -- Other. The author got these academic degrees based on Indonesia Education System, and according to the Minahasa culture or motto. However, the author got the degrees in the author's institution established by the author in 1984. The faculty member is in Animal Science -- Other

    Fasting

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    A paper about the role of fasting as set out in the Bible, and its implication for contemporary Christian life

    Fasting

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    A paper about the role of fasting as set out in the Bible, and its implication for contemporary Christian life

    Baptism

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    In this article, the author digs regarding baptism based on the information from the scriptures only. It shows that in order to enter the kingdom of God, people must be baptized into Christ. There is no other foundation

    The Spiritual Journey of Jesus Christ

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    The gospel does not introduce a new Lord. There is no other Lord in Christianity, except Christ. God in the Old Testament is the same as God in the New Testament. Christ is the same as God. There is no other Christ. God became man in Jesus Christ to preach the gospel to humans. He went to the earth of the dead to preached the gospel 3 days in the death world, returned to the earth, and then to the heaven. This is the spiritual journey. Emmanuel is God with us. The mathematical model of Christ is ­ ~ ≤ X ≤ ~ and X = Y. A Christian could catch up into paradise as Paul’s vision. It was from the earth. It was not from heaven. It is different with Jesus Christ’s journey. Christ from heaven down to earth, going to the world of the dead, returning to earth and returning to heaven. Paul’s vision shows that the man catch up from the world to heaven, returned to the earth and died. He needs to wait the advent of Christ to rise up him from the death. Christ is eternal forever. The man is not yet 100% eternal. He still needs to be rise by Christ in the day of the Lord. Satan was from heaven and was thrown into the earth. It was not a spiritual journey. Satan, his angels and the false prophet have been thrown into the hell. The mathematical model of the false prophet is - ~ ≤ X &lt; ~ and X = Y. The spiritual journey of Jesus Christ is Scholar

    Baptism

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    In this article, the author digs regarding baptism based on the information from the scriptures only. It shows that in order to enter the kingdom of God, people must be baptized into Christ. There is no other foundation

    The Children of God and the Children of Darkness on the Day of the Lord

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    The children of God are Jesus Christ’s followers and are occupants of heaven. The children of darkness are those who admit that Satan or the false prophet as their lord. They have no love and have antagonism. They live in flesh. Children of darkness are occupants of hell. The devils have always tried to tempt the children of God convert to their faith. Even Satan has tempt Jesus Christ to become his followers but failed. Consequently, he tried to kill Christ on the cross and again failed. Mathematically, Christ is higher than Satan is; the false prophet is, not vice versa. It is a scholarly proof. It shows that the children of God are higher than Satan is. Children of God should hold Christ in daily life to enter the kingdom of heaven on the last day. On that day, Jesus Christ will take the children of God into heaven. On the other hand, he will put Satan, his angels, the false prophet, false prophets, false teachers, and their followers will enter hell. It is the forever punishment
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