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  1. Article ; Online: Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD) deficiency of a Javanese Chinese family in Indonesia

    IDG Ugrasena / Taku Shirakawa / Kaoru Nishiyama / Masafumi Matsuo

    Paediatrica Indonesiana, Vol 41, Iss 1, Pp 56-

    2017  Volume 9

    Abstract: The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were ... ...

    Abstract The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T), corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T), corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation).
    Keywords glucose-6-phosphatase dehydrogenase deficiency ; multiplex polymerase chain reaction ; hyperbilirubinemia ; Medicine ; R ; Pediatrics ; RJ1-570
    Language English
    Publishing date 2017-02-01T00:00:00Z
    Publisher Indonesian Pediatric Society Publishing House
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Gambaran Hematologi Anemia Defisiensi Besi pada Anak

    IM Widiaskara / PT Pramitha / I Wayan Bikin Suryawan / IDG Ugrasena

    Sari Pediatri, Vol 13, Iss 5, Pp 362-

    2016  Volume 6

    Abstract: Latar belakang.Anemia defisiensi besi (ADB) menjadi masalah kesehatan di dunia, baik di negara maju maupun negara berkembang seperti di Indonesia. Sekitar 30% penduduk dunia menderita anemia dan lebih dari setengahnya merupakan anemia defisiensi besi. ... ...

    Abstract Latar belakang.Anemia defisiensi besi (ADB) menjadi masalah kesehatan di dunia, baik di negara maju maupun negara berkembang seperti di Indonesia. Sekitar 30% penduduk dunia menderita anemia dan lebih dari setengahnya merupakan anemia defisiensi besi. Dampak negatif yang diakibatkan oleh anemia defisiensi besi pada anak balita sangat serius. Tujuan.Mengetahui gambaran hematologis anemia defisiensi besi pada anak yang dirawat di RSUD Wangaya Denpasar. Metode.Penelitian deskritif potong lintang, pada anak yang dirawat di RSUD Wangaya Denpasar pada periode Januari – Juni 2009, umur 6-59 bulan. Diagnosis anemia defisiensi besi berdasarkan kriteria WHO, diberikan pengobatan bagi yang menderita ADB dengan sulfas ferosus (SF) selama 1 bulan. Hasil.Didapatkan 75 anak usia 6–59 bulan yang dirawat di RSUD Wangaya dengan anemia. Sebagian besar (52%) laki-laki, terbanyak usia 12 – 35 bulan (46,7%) dan 65,3 % menderita dengan rerata kadar Hb, MCHC, SI, TIBC, saturasi transferin berturut-turut adalah 9,9 g/dl , 31,8 g/dl, 37,9 Ug/dl, 361 Ug/dl dan 12,3 %, HCT 30,7% dan feritin serum 75,6 ug/L. Pengobatan dengan SF selama 1 bulan menunjukkan peningkatan Hb 1 gr/dl dan HCT 2,8%. Kesimpulan.Anak yang dirawat dengan anemia 65,3% anemia defisiensi besi dan. sebagian besar (57,1%) mempunyai status besi yang kurang. Selama 1 bulan pengobatan dengan sulfas ferosus terjadi peningkatan Hb 1 gr % dan HCT 2,8%
    Keywords anemia defisiensi besi ; balita ; Medicine ; R ; Pediatrics ; RJ1-570
    Language Indonesian
    Publishing date 2016-11-01T00:00:00Z
    Publisher Badan Penerbit Ikatan Dokter Anak Indonesia
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: High frequency of the 3R/3R polymorphism in the thymidylate synthase enhancer region in Indonesian childhood acute lymphoblastic leukemia

    IDG Ugrasena / Sutaryo Sutaryo / Edy Supriadi / Laura Vroling / Jacqueline Cloos / Jan Hendrik Hooijberg / AJP Veerman

    Paediatrica Indonesiana, Vol 46, Iss 3, Pp 103-

    2016  Volume 12

    Abstract: Background Deoxyuridylate monophosphate (dTMP) is neces- sary for DNA synthesis and thymidylate synthase (TS) is an im- portant target of cancer chemotherapy. Ethnic variations of the polymorphic tandem repeat sequence in the enhancer region of the TS ... ...

    Abstract Background Deoxyuridylate monophosphate (dTMP) is neces- sary for DNA synthesis and thymidylate synthase (TS) is an im- portant target of cancer chemotherapy. Ethnic variations of the polymorphic tandem repeat sequence in the enhancer region of the TS promoter has previously been described to influence the outcome of acute lymphoblastic leukemia (ALL). A triple repeat is associated with a higher TS gene expression than a double re- peat, resulting in poorer outcome of ALL patients treated with anti- folate methotrexate (MTX). Objective In this study, we determined the incidences of TS and methylenetetrahydrofolate reductase (MTHFR) polymorphism and ethnic variations between Indonesian and Caucasian ALL cell samples obtained at diagnosis. Furthermore, we determined the involvement of TS polymorphisms in MTX sensitivity using a thymidilate synthase inhibition assay (TSIA). Methods ALL cell samples were obtained at diagnosis from 101 Indonesian and 157 Caucasian children treated with MTX prospec- tively. Genotyping for TS and MTHFR was analyzed by Genescan and Lightcycler. TS polymorphism was determined by PCR assay and MTHFR polymorphism and was analyzed by melting curve analyses on lightcycler. Results Homozygous TS triple repeats were more than twice as common in Indonesian samples (76.3%) than in Caucasian samples (33.1%). Heterozygotes of the MTHFR mutations were seen in 15% of the screened Indonesian samples. Conclusion There are significant ethnic variations in TS gene regulatory elements of leukemic cells. A difference was found be- tween the MTX sensitivity and a double or triple repeat in the Cau- casian ALL group. The samples with a triple repeat show a shift in their distribution towards hypersensitivity to MTX. Further investi- gation on Indonesian samples may give insight in the role of poly- morphisms in MTX sensitivity
    Keywords polymorphism ; acute lymphoblastic leukemia ; thymidilate synthase ; methotrexate ; children ; Medicine ; R ; Pediatrics ; RJ1-570
    Subject code 616
    Language English
    Publishing date 2016-10-01T00:00:00Z
    Publisher Indonesian Pediatric Society Publishing House
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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