Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java. The three most prevalent mutations of beta globin (IVS1nt5, Cd26 (HbE), and IVS1nt1), were conducted in the beginning of this study. Mutations of 291 samples were detected by PCR-RFLP in the Molecular Genetic Laboratory, Faculty of Medicine Universitas Padjadjaran, Bandung. The prevalence of the beta globin gene mutation types were 47.4% IVS1nt5 homozygote, 9.9% compound heterozygote IVS1nt5/HbE, 5.4% compound heterozygote IVS1nt5/IVS1nt1, 1.4% compound heterozygote HbE/IVS1nt1, 1% HbE homozygote, 14.4% Compound heterzygote IVS1nt5/… (no paired mutation), 2.06% compound heterozygote HbE/… (no paired mutation), 1.3% compound heterozygote IVS1nt1/… (no paired mutation), and 7 samples were unidentified. The thalassemia mutation IVS1nt5 homozygote is the most common mutation found in Thalassemia patients at Hasan Sadikin Hospital, Bandung. The samples with unidentified results might carry mutations other than the three that are observed in the present study.
Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java. The three most prevalent mutations of beta globin (IVS1nt5, Cd26 (HbE), and IVS1nt1), were conducted in the beginning of this study. Mutations of 291 samples were detected by PCR-RFLP in the Molecular Genetic Laboratory, Faculty of Medicine Universitas Padjadjaran, Bandung. The prevalence of the beta globin gene mutation types were 47.4% IVS1nt5 homozygote, 9.9% compound heterozygote IVS1nt5/HbE, 5.4% compound heterozygote IVS1nt5/IVS1nt1, 1.4% compound heterozygote HbE/IVS1nt1, 1% HbE homozygote, 14.4% Compound heterzygote IVS1nt5/... (no paired mutation), 2.06% compound heterozygote HbE/... (no paired mutation), 1.3% compound heterozygote IVS1nt1/... (no paired mutation), and 7 samples were unidentified. The thalassemia mutation IVS1nt5 homozygote is the most common mutation found in Thalassemia patients at Hasan Sadikin Hospital, Bandung. The samples with unidentified results might carry mutations other than the three that are observed in the present study.
Pendahuluan: Streptococcus mutans merupakan organisme kariogenik utama. Antibakteri sintetik yang biasa digunakan adalah NaOCl. Sarang semut mengandung senyawa kimia yang dapat menghambat pertumbuhan Streptococcus mutans. Tujuan penelitian ini adalah mengetahui daya hambat ekstrak metanol sarang semut (Myrmecodia pendans Merr. & Perry) dan NaOCl terhadap Streptococcus mutans serta perbedaan potensi antibakteri keduanya. Metode: Jenis penelitian adalah eksperimental laboratoris. Uji daya antibakteri dilakukan dengan menggunakan metode difusi agar. Media agar darah ditetesi 0,1 ml suspensi bakteri lalu dimasukkan ekstrak metanol sarang semut dengan konsentrasi 30%, 15%, 7,5%, 3,75%, 1,875% dan NaOCl dengan konsentrasi 5%, 2,5%, 1,25% diinkubasi pada suhu 37° C selama 24 jam dalam suasana fakultatif anaerob dan dilakukan replikasi tiga kali. Uji statistik menggunakan metode ANAVA dan Independent t-test. Hasil: Ekstrak metanol sarang semut konsentrasi 30% menghasilkan diameter zona hambat rata-rata 5,87 mm, sedangkan NaOCl 1,25% adalah 9,33 mm. Simpulan: Ekstrak metanol sarang semut dan NaOCl memiliki potensi daya hambat terhadap Streptococcus mutans, namun potensi antibakteri NaOCl lebih besar dibandingkan dengan ekstrak metanol sarang semut.
BackgroundThalassemia is a monogenic, autosomal recessive, inherited disorder of the red blood cells caused by mutations or deletions in the globin gene. Approximately 6–10% of the Indonesian population carries the β-globin gene mutation; however, premarital screening is rarely conducted, and antenatal screening is optional. We explored the use of cell-free fetal DNA (cffDNA) as a potential non-invasive method of detecting the fetal β-globin gene mutation prenatally in pregnant women.Materials and methodsPregnant mothers (n = 10), who were known carriers of thalassemia and who had a history of having borne a baby with thalassemia major, and their carrier husbands (n = 4) were recruited after providing consent. EDTA blood was drawn, and maternal DNA, including cffDNA, and paternal DNA were isolated. Maternal contamination tests were conducted using the variable number tandem repeat test for ApoB and D1S80 loci. Allele quantification was performed by pyrosequencing. Known mutations from the bio-archived DNA of patients with thalassemia major (n = 16) were run alongside as a control.ResultsIn total, 7 out of 10 cffDNA successfully passed the maternal contamination test. The results of the allele quantification showed that six fetuses were predictive carriers of IVS1nt5 and one was predictive normal, in line with the allele quantification for the bio-archived DNA from patients with thalassemia major. The minimum threshold percentage for mutant A allele at cd26 was 32%, mutant T allele at IVS1nt1 was 23%, and mutant C allele at IVS1nt5 was 39%.ConclusionTaking cffDNA from the mother’s blood proved useful as a non-invasive means of detecting the β-globin gene mutation using pyrosequencing allele quantification. This non-invasive method is of great interest for prenatal diagnosis in settings with limited facilities, as it minimizes the risk of abortion. Further study of other mutations of the β-globin gene is needed.
Akrilik merupakan salah satu bahan landasan gigi tiruan yang populer digunakan oleh dokter gigi di bidang prostodonti. Pembuatan gigi tiruan saat ini dapat dilakukan juga oleh tukang gigi sesuai dengan peraturan Permenkes, namun terbatas pada bahan akrilik heat-cured sebagai landasan gigi tiruan. Tukang gigi diketahui sering menggunakan bahan akrilik self-cured sebagai landasan gigi tiruan, tanpa memperhatikan toksisitas dari bahan. Penelitian ini bertujuan untuk mengamati pengaruh toksisitas akrilik self-cured terhadap viabilitas sel fibroblast. Metode: Penelitian menggunakan metode eksperimental in vitro dengan melakukan kontak antara piringan akrilik self-cured dan sel fibroblast REF (Rat Embryonic Fibroblast) selama 48 jam. Piringan akrilik self-cured yang digunakan pada penelitian ini dibuat dengan ukuran diameter 1 cm dan tebal 1 mm. Pengaruh toksisitas piringan akrilik self-cured dilihat dengan membandingkan viabilitas sel fibroblast pada piringan akrilik self-cured yang sudah direndam pada air suhu ruangan (25 o C) selama 1 jam dengan monomer sisa yang terukur sebagai kontrol (2,5%). Hasil: Jumlah rata-rata viabilitas sel fibroblast pada piringan akrilik self-cured sebesar 24,04% dan pada kontrol 17,43%. Analisis statistik uji-t menunjukkan nilai p dibawah nilai kemaknaan (p < 0,05), yaitu 0,02. Simpulan: Terdapat pengaruh toksisitas bahan landasan akrilik self-cured terhadap viabilitas sel fibroblast dan adanya perbedaan bermakna pada perendaman piringan akrilik dalam air suhu ruangan selama 1 jam terhadap kontrol.
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