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Ditemukan 3 dokumen yang sesuai dengan query
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Pustika Amalia Wahidiyat
Comparison of deferiprone to deferasirox and deferoxamine to cardiac and hepatic T2 MRI in thalassemia patients: evidence-based case report / Pustika Amalia Wahidiyat, Mikhael Yosia, Teny Tjitra Sari
"ABSTRACT
Background: there are currently three iron chelator readily available for patients Indonesia; deferiprone/DFP (branded as Ferriprox), deferasirox/DFX (branded as Exjade) and deferoxamine/DFO (branded as Desferal). This study aims to determine which iron chelator is the most efficient in reducing cardiac and hepatic iron overload (measured by means of T2 MRI). Methods: journal search with determined MeSH term was done in PubMed and Scopus. Studies that looked upon thalassemia major patient in all ages with usage of monotherapy iron chelation and its effect on myocardial T2 MRI and/or liver T2 MRI was included. Appraisal of studies was done using Oxford CEBM appraisal tools and Joanna Brigs Institute critical appraisal tools. Results: total of 11 studies with grand total of 611 samples were included. Mean T2 MRI value or (when available) mean changes in T2 MRI value after usage of specific iron chelator was gained from all the studies included. Comparison study and individual studies shows better control and increase of myocardial T2 MRI in those with DFP, and of liver T2 in those with good adherence to DFO chelation. Conclusion: DFP is superior in controlling or reducing myocardial iron load (as proven by mT2 MRI) and DFO had better capabilities in controlling or reducing hepatic iron load (as proven by liver T2* MRI). Studies with longer observation and larger samples is needed to see a significant changes of T2 MRI in DFX."
Jakarta: University of Indonesia. Faculty of Medicine, 2018
JAK 3:2 (2017)
Artikel Jurnal  Universitas Indonesia Library
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Pustika Amalia Wahidiyat
Faktor-faktor genetik pengubah manifestasi klinis thalassemia interaksi antara mutasi thalassemia polimorfisme dan SNPs pada klaster gen globin
"Latar belakang: Thalassemia dan hemoglobinopati merupakan kelainan gen tunggal terbanyak di dunia, termasuk di Indonesia dengan frekuensi pembawa sifat thalassemia-~ 3-10% dan HbE 1-36%. Thalassemia-WIThE adalah bentuk heterozigot ganda paling sering ditemukan dengan gejala klinis bervariasi, dari asimtomatik sampai berat. Beberapa faktor pemodifikasi telah diketahui memengaruhi manifestasi klinis. Faktanya pasien dengan jenis mutasi sarna dapat memiliki manifestasi klinis berbeda. Hal itu menunjukkan ada faktor pemodifikasi lain yang memengaruhi derajat manifestasi klinis. Tujuan: Meneari faktor-faktor genetik yang memengaruhi manifestasi klinis, antara lain MGP: bg2, bgll dan bg 200 yang diduga berhubungan dengan meningkatnya produksi HbF dan memengaruhi variasi manifestasi klinis. Metode penelitian: Penelitian dilakukan dengan metode belah lintang pada pasien thalassemia-~IHbE yang berobat ke Divisi Hematologi-Onkologi Dept. IKA dan Dept. IPD, RSCM, Lembaga Biomolekular Eijkman Jakarta, serta rumah sakit lain sejak bulan Desember 2006 sampai dengan Oktober 2008. Tahap I mendapatkan 293 subjek, terdiri atas 63 subjek ringan (skor <4), 101 subjek intermedia (skor 4-7,5), dan 129 subjek herat (skor ~7,5). Seluruh subjek menjalani pemeriksaan hematologi termasuk indeks eritrosit, morfologi eritrosit, analisis Hb dan feritin serum. Tahap IT dilakukan pemeriksaan jenis mutasi thalassemia-~, termasuk delesi besar gen globin-~ (HPFH tipe delesi), dan jenis mutasi thalassemia-a (co-inheritance dengan thalassemia-a dan triplikasi rantai globin-a) pada 192 subjek kelompok ringan dan berat. Tahap m dilakukan pemeriksaan HPFH nondelesi (polimorfismeXmnI-Gy) dan SNPs: bg2, bg11 dan bg200 pada 187 subjek kelompok ringan dan berat dengan mutasi-~o dan _~+beJat mumi. Pemeriksaan SNPs dilakukan dengan teknik RDB dan teknik sekuensing langsung. Basil penelitian dan pembabasan: Hasil penelitian menunjukkan jenis mutasi thalassemia-~ bukan faktor yang memengaruhi manifestasi klinis, kecuali mutasi IVS 1- nt5 (jenis mutasi-~+bera~ yang berhubungan dengan manifestasi klinis berat (P<0,05). Delesi satu gen globin-a (3.7 kb) berhubungan dengan manifestasi klinis ringan, sedangkan polimorfisme XmnI-G'Y tidak memengaruhi manifestasi klinis. Dari 3 buah SNPs, hanya bg200 yang berhubungan dengan manifestasi klinis (RR: 4,15 (1,22 < RR < 14,17) danp
Background: Thalassemia and hemoglobinopathy are the most common monogenic diseases in the world including Indonesia, with gene frequencies of ~-thalassemia 3-10% and for HbE 1-36%. Compund heterozygote ~-thalassemialHbE is one of the world's most common form, have a wide variation of clinical manifestations ranging from asymptomatic to transfusion-dependent. Several major modified genetic factors (MGP) which can influence the phenotype have been reported. The fact that patients with identical p-thalassemia mutations showed different clinical severity. This finding suggests that there are other MGP which contribute to the severity of the diseases. Purpose: To fmd ·several modifying gene factors including SNPs: bg2, bgll and bg200 which had tendency to increase HbF production and influences the clinical manifestations of p-thalassemialHbE. Materials and Methods: This was a cross sectional study to a total 293 subjects with pthalassemia/ HbE patients from Department of Child Health and Department of Internal Medicine, Cipto Mangunkusumo National Hospital, Eijkman Institute for Molecular Biology, Jakarta and other hospitals from December 2006 until October 2008. Phase I: Subjects were divided into mild (score <4, n=63), intermediate (score 4-7.S, n=101), and severe (score 2: 7.S, n= 129) using Thailand severity scoring. Hematological parameters including CBC, red cell indices and morphology, Hb analysis and serum ferritin were performed. Phase ll: 192 subj ects from mild and severe group were performed to characterize the ~thalassemia mutation, including large deletion of P-globin gene (deletion HPFH) and interaction of 0.thalassemia (deletion, non deletion a-thalassemia and a-globin gene triplication). Phase ill: XmnI-Gy polymorphisms and 3 SNPs: bg2, bgll and bg200 executed from 187 subjects of mild and severe groups with ~o - and ~~ -thalassemia mutation without any gene interaction. SNPs were performed by RDB and direct sequencing. Results: In this study types of p-thalassemia mutation are not the modifying factor contribute to the Clinical manifestation, except the · IVS I-ntS that correlate with severe clinical manifestations (p"
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2009
D1765
UI - Disertasi Open  Universitas Indonesia Library
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Pustika Amalia Wahidiyat
Evaluation of iron overload between age groups using magnetic resonance imaging and its correlation with iron profile in transfusion dependent thalassemia
"ABSTRACT
Background: routine blood transfusion in transfusion-dependent-thalassemia (TDT) causes iron accumulation in various organ. Serum markers of iron overload, serum ferritin and transferrin saturation, are sensitive but not specific. MRI T2-star (T2*) is valuable for detecting iron level in organs. This study aimed to explore the degree of iron overload in various organs, iron deposition difference between children and adults, also its correlation with serum marker of iron overload. Methods: this was a cross-sectional study of TDT patients who had been evaluated by MRI T2* examination in Cipto Mangunkusumo Hospital from 2014 to 2018. Results: a total of 546 subjects was included in this study. The number of subjects between children and adults was almost equal. Most of subjects had normal cardiac iron deposition. The difference of cardiac iron overload between children and adults was significant (p=0.009). Liver evaluation showed that most of subjects had moderate to severe iron overload. This difference between children and adults was significant (p=0.017). Pancreas evaluation showed that either children or adults mostly had mild pancreatic iron overload. Analysis of T2* showed that pancreatic iron deposition progressed with increasing age. Serum ferritin had weak correlation with heart T2* MRI, moderate correlation with pancreas and liver T2* MRI. Relationship between transferrin saturation and T2* MRI was extremely weak. Conclusion: cardiac and hepatic iron deposition between children and adults differ significantly. Liver has the greatest iron overload, followed by pancreas and heart. Iron deposition in liver and pancreas has been started from earlier age. Pancreatic iron deposition rises with increasing age. Serum ferritin and transferrin saturation should not be used solely to predict iron overload in various organs. We suggest that MRI evaluation must be conducted at least once to assess iron deposition in organs."
Jakarta: University of Indonesia. Faculty of Medicine, 2018
610 UI-IJIM 50:3 (2018)
Artikel Jurnal  Universitas Indonesia Library