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Abstrak :
Penderita thalassemia β mayor berisiko mengalarni hemokromatosis yang dapat merusak dan menurunkan fungsi ginjal. Pemeriksaan kadar kreatinin serum secara rutin telah digunakan untuk menilai fungsi ginjal namun cara ini banyak kekurangannya, sedangkan parameter baru cystatin C serum diketahui febih baik dibandingkan kreatinin namun belum pernah diteliti pada penderita thalassemia β mayor dengan hemokromatosis. Dengan mengetahui Iebih dini adanya penurunan fungsi ginjal maka diharapkan dapat menghambat progresititas penurunan fungsi ginjal pada penderita thalassemia β mayor dengan hemokromatosis. Penelitian ini bertujuan menilai fungsi ginjal penderita thalassemia β mayor dengan hemokromatosis. Janis penelitian, potong lintang diiaporkan dalam bentuk deskriptif analitik. Pengambilan darah dan data subyek dilaksanakan di pusat Tfralassemia ilmu Kesehatan Anak dan pengukuran laboratorium dilaksanakan di Departemen Patologi Klinik FKU/RSCM. Semua pasien yang memenuhi kriteria masukan diambil yaitu usia 10-21 tahun, saturasi transferin > 55%, pengobatan desferal < 3 kali per minggu, tidak mendapat obat yang mengganggu sekresi kreatinin. Hasil penelitian didapatkan, kadar kreatinin serum berkisar 0,2-0,7 mg/dL kadar cystatin C serum berkisar 0,69-1,31 mg/L, laju filtrasi glomerulus berdasarkan kadar cystatin C serum dengan menggunakan rumus Hoek (LFG-C) berkisar 57-112,1mL/menit/1,73m2, laju filtrasi glomerulus berdasarkan kadar kreatinin serum menggunakan rumus Counahan-Barrat (LFG-K) berkisar 95,2-288,1 mL/menit/1,73 m2 dan tidak dijumpai perbedaan hasil antara lelaki dan wanita pada parameter tersebut diatas. Dare 62 penderita thalassemia β mayor dengan hemokromatosis didapatkan penurunan fungsi ginjal yaitu laju filtrasi glomerulus < 90 mL/menit/1,73m2 sebesar 75,8% jika ditetapkan dengan LFG-C yang mulai terlihat setelah 96 bulan mendapat transfusi berulang. Namun jika ditetapkan dengan LFG-K semuanya belum menunjukkan adanya penurunan fungsi ginjal. Dijumpai korelasi antara lamanya mendapat transfusi darah dan LFG-C dengan r = - 0,475; sedangkan antara total volum darah transfusi dengan LFG-C dengan r = - 0,467; antara kadar kreatinin dan cystatin C serum dengan r = 0,504. Dijumpai korelasi lemah antara LFG-K dan LFG-C dengan r = 0,37. Tidak djumpai adanya korelasi antara kadar cystatin C serum dengan saturasi transferin. Didapatkan persamaan garis linier regresi pengaruh lamanya mendapat transfusi darah (Y} terhadap rerata LFG-C (X) yaitu Y = 569,1 - 5,06X, sedangkan pengaruh total volum darah transfusi (Y) terhadap LFG-C (X) yaitu Y 107380,7 - 617,414X. Pada penderita thalassemia p mayor dengan hemokromatosis kadar kreatinin serum cenderung rendah oleh karena itu pemantauan fungsi ginjal tidak dianjurkan menggunakan LFG-K, sebaiknya menggunakan LFG-C.

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Patients with j3-thalassemia major are at risk of developing hemochromatosis that will deteriorate and decrease renal function. Routine serum creatinine measurement has utilized to assess renal function, but this method has a lot disadvatages, while cystatin C a new parameter is known to be better than serum creatinine but had never been studied in p-thalassemia major patiens with hemochromatosis. Early detection of decreased renal function cans hopefully, slower the progressivity of renal function decrease in 13-thalassemia major patiens with hemochromatosis. The aim of this study was to access renal function in p-thalassemia major patiens with hemochromatosis. This study was designed as cross-sectional study, and the report was analytic descriptive. Blood and subject data collection was performed in the Thalassemic Center, Departement of Child's Health, FMU1 and laboratory test were performed in the Departement of Clinical Pathology, FMUI, Cipto Mangunkusumo National Hospital. All eligible patiens, i.e aged 10-21 years, with transferrin saturation of > 55%, on desferal with frequency of less than 3 timelweek, not on any medication that affect creatinine secretion, were included in this study. Result of this study showed that serum creatinine level ranged between 0.2-0.7 mg/dL, serum cystatin C level ranged between 0.69-1.31 mg/dL, glomerular filtration rate based on serum cystatin C level calculated with Hoek formula (GFR-C) ranged from 57- 112.1 mUminll.73 m2, glomerular filtration rate base on serum creatinine level calculated with Counahan-Barrat formula (GFR-K) ranged from 95.2-288.1 mL/min/1.73 m2 and there were no significant difference between male and female for all the parameters above. Of 62 subjects, we found decreased renal function, Le. GFR < 90 mL/min/1.73 m2 in 75,8% if GFR-C was used, and decrease was evident approximately 96 months after first administration of repeated transfusion regiment. But, if GFR-K was used, none of the patiens showed decrease renal function. There were negative correlation between the time interval from first transfusion and GFR-C (r = - 0.475) and between total volume of transfused blood (r = -0.467). Positive correlation was observed between serum creatinine and cystatine C level (r = 0.504). Weak correlation was found between serum cystatin C level and transferrin saturation. The equation of linear regression between the length of transfusion (Y) and mean GFR-C (X) was Y = 569.1 - 5.06X, while linear regression line between total volume of transfused blood (Y) and GFR-C (X) was Y = 107380,7 - 617.414X. In p-thalassemia major patiens with hemochromatosis, serum creatinine level tended to be low, thus GFR-K is not recommended for determination of renal function, and instead, GFR-C is a better measure of renal function in those patiens.

Abstrak :
[ABSTRAK
Latar belakang: Metode PCR rutin untuk mendeteksi mutasi pada thalassemia α seperti PCR multi kompleks dan restriction fragment length polymorphism (RFLP) membutuhkan proses yang lama dan reagen yang banyak serta biaya yang besar. Saat ini telah dikembangkan metode baru yaitu tes strip (α-globin strip assay), yang dapat mendeteksi 21 macam mutasi gen globin -α secara simultan dalam satu paket reaksi dan hanya membutuhkan DNA dalam jumlah sedikit. Tujuan : Mengetahui nilai sensitivitas dan spesifisitas metode α-globin strip assay dalam mendeteksi mutasi thalassemia-α. Metode penelitian: Penelitian merupakan uji diagnostik yang dilakukan dengan metode belah lintang yang membandingkan pemeriksaan α -globin strip assay dan PCR rutin dalam mendeteksi mutasi gen pada thalassemia α. Pada tahap I disertakan 17 pasien yang berobat ke pusat thalassemia di RSCM dan Lembaga Biomolekular Eijkman Jakarta pada bulan Oktober 2014 sampai Maret 2015, kemudian tahap II disertakan 18 anggota keluarga inti subjek pada tahap I. Pada semua subjek dilakukan pemeriksaan hematologi termasuk indeks eritrosit, morfologi darah tepi, analisis Hb, PCR rutin dan α -globin strip assay. Hasil penelitian dan pembahasan: Ditemukan tujuh jenis mutasi yang terdiri dari: 1) delesi 1 gen 3,7kb; 2) non delesi Cd59; 3) non delesi HbCS; 4) delesi 2 gen SEA; 5) mutasi campuran 3,7kb/Cd59 ; 6) mutasi campuran Cd59/HbCS; 7) mutasi campuran SEA/HbCS. Metode α-globin strip assay memiliki nilai sensitivitas dan spesifisitas sebesar 100%. Kesimpulan : Metode α-globin strip assay akurat mendeteksi mutasi thalassemia-α dengan tingkat sensitivitas dan spesifisitas sebesar 100%.

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ABSTRACT
Background : Routine PCR methods in detecting mutations that occur in α thalassemia such as multi-complex single tube PCR and PCR restriction fragment length polymorphism (RFLP) require a lengthy process and utilize large amount of reagents and are costly. α-globin strip assay is a new method in detecting α thalassemia related mutations that is able to detect 21 types of globin-α mutations simultaneously in a single reaction and requires only small amount of DNA. Objective: To determine the sensitivity and specificity of α-globin strip assay compared to routine PCR in detecting α thalassemia associated mutations. Methods: A cross sectional diagnostic study was performed comparing α-globin strip assay and routine PCR in detecting mutations related to α thalassemia. Phase I of the study includes 17 patients treated for α thalassemia at RSCM and Biomolecular Eijkman Institute between October 2014 and March 2015, phase II includes 18 close relatives of patients recruited in phase I. All subjects underwent hematological examination including erythrocyte indices, peripheral blood morphology, Hb analysis, routine PCR and α ?globin strip assay. Results: Seven kind of mutations were identified including 1) deletion of one gene 3,7 kb; 2) non-deletion of CD59; 3) non deletion of HbCS; 4) deletion of two genes SEA; 5) mixed mutation of 3,7kb/CD59; 6) mixed mutation of CD59/HbCS; 7) mixed mutation of SEA/HbCS. α-globin strip assay has sensitivity and specificity of 100%. Conclusion: α ?globin strip assay accurately detect mutations in α thalassemia with 100% sensitivity and specificity., Background : Routine PCR methods in detecting mutations that occur in α thalassemia such as multi-complex single tube PCR and PCR restriction fragment length polymorphism (RFLP) require a lengthy process and utilize large amount of reagents and are costly. α-globin strip assay is a new method in detecting α thalassemia related mutations that is able to detect 21 types of globin-α mutations simultaneously in a single reaction and requires only small amount of DNA. Objective: To determine the sensitivity and specificity of α-globin strip assay compared to routine PCR in detecting α thalassemia associated mutations. Methods: A cross sectional diagnostic study was performed comparing α-globin strip assay and routine PCR in detecting mutations related to α thalassemia. Phase I of the study includes 17 patients treated for α thalassemia at RSCM and Biomolecular Eijkman Institute between October 2014 and March 2015, phase II includes 18 close relatives of patients recruited in phase I. All subjects underwent hematological examination including erythrocyte indices, peripheral blood morphology, Hb analysis, routine PCR and α –globin strip assay. Results: Seven kind of mutations were identified including 1) deletion of one gene 3,7 kb; 2) non-deletion of CD59; 3) non deletion of HbCS; 4) deletion of two genes SEA; 5) mixed mutation of 3,7kb/CD59; 6) mixed mutation of CD59/HbCS; 7) mixed mutation of SEA/HbCS. α-globin strip assay has sensitivity and specificity of 100%. Conclusion: α –globin strip assay accurately detect mutations in α thalassemia with 100% sensitivity and specificity.]

Abstrak :
Penelitian ini bertujuan untuk mengetahui keluhan subjektif mata kering dan gangguan komponen air mata (lipid, akuos, mucin) pada pasien thalassemia mayor dengan riwayat transfusi darah jangka panjang, serta menganalisis hubungan antara kadar feritin serum, durasi, dan frekuensi transfusi darah dengan masing-masing parameter penilaian komponen lapisan air mata. Penelitian ini merupakan studi potong lintang (cross sectional) pada pasien thalassemia mayor yang sudah berusia dan mengalami transfusi darah selama minimal 10 tahun. Penilaian mata kering terdiri dari pengisian kuesioner OSDI untuk menilai keluhan subjektif, pemeriksaan biomikroskopi lampu celah dan nilai tear break up time (TBUT) untuk menilai tingkat keparahan mata kering, pemeriksaan Schirmer basal, Ferning, dan sitologi impressi konjungtiva untuk menghitung jumlah sel goblet. Data perhitungan tingkat keparahan mata kering, nilai uji Schirmer basal, TBUT, dan jumlah sel goblet dianalisis dan dicari hubungannya dengan kadar feritin serum, durasi dan frekuensi transfusi. Pada 77 subyek, mata kering terjadi sebanyak 14.3%, penurunan nilai TBUT (39%), nilai Schirmer basal (37.7%), nilai Ferning (24.7%), dan jumlah sel goblet (45.5%). Tidak terdapat perbedaan bermakna antara tingkat keparahan mata kering, nilai TBUT, nilai Schirmer basal, nilai Ferning, dan jumlah sel goblet dengan kadar feritin serum, durasi, dan frekuensi transfusi. Namun, terdapat hubungan yang bermakna antara tingkat keparahan mata kering dan usia (p = 0.014), serta nilai TBUT (p = 0.012) dan Schirmer (p = 0.014) dengan jenis kelamin. Penelitian ini memperlihatkan 14.3% subyek thalassemia mayor mengalami mata kering berdasarkan kriteria DEWS 2007. Kejadian mata kering pada thalassemia mayor tidak dipengaruhi oleh faktor transfusi dan kadar feritin serum, melainkan dipengaruhi oleh usia dan jenis kelamin. ......This study is aimed to understand subjective complaints for dry eyes and disruption of component of tear fluid (lipid, aqueous, mucin) in patients with major thalassemia with a history of long-term blood transfusions and to analyse the correlation between serum ferritin level, duration and frequency of blood transfusion. This study is a cross-sectional study. The subject of this study is patients with major thalassemia age minimum of 10 years old and have had blood transfusion for at least 10 years. OSDI questionnaire, slit-lamp biomicroscopy examination, tear break up time (TBUT), and basal Schirmer test was used to assess dry eyes severity. Ferning and conjunctiva impression cytology examination was used to assess mucin quality and count the amount of goblet cells. The correlation analysis between the result of these assessments and serum ferritin level and duration and frequency of blood transfusion was done. In 77 subjects, the prevalence of dry eyes is 14.3%. There is a decrease in TBUT (39%), basal Schirmer (37.7%), Ferning (24.7%), and goblet cells (45.5%). There is no significant correlation between dry eyes severity and TBUT, basal Schirmer, Ferning, and the amount of goblet cells with serum ferritin level, duration, and frequency of blood transfusion. There is a significant correlation between dry eyes severity and patient s age (p = 0.014); TBUT (p = 0.012), as well as, Schirmer (p = 0.014) with sex. This study showed that 14.3% of patients with major thalassemia suffer from dry eyes with severity level grade 2 according to DEWS 2007. The incidence of dry eyes is not influenced by transfusion and serum ferritin level but is influenced by age and sex.

Abstrak :
Latar belakang. Penelitian ini bertujuan menilai gambaran struktur dan fungsi retina serta menilai hubungan antara durasi terapi kelasi besi dan kadar feritin serum dengan abnormalitas struktur retina pada penyandang thalasemia-β mayor yang memperoleh terapi kelasi besi di RSCM. Metode. Penelitian potong lintang ini dilakukan pada penyandang thalasemia-β mayor berusia di atas 10 tahun yang memperoleh terapi kelasi besi dan menjalani kontrol di Pusat Thalasemia RSCM. Subjek dilakukan pemeriksaan oftalmologis, foto fundus, dan fundus autofluorescence. Selanjutnya dilakukan pengambilan subsampel dari subjek awal berdasarkan hasil fundus autofluorescence dan dilakukan pemeriksaan elektroretinografi multifokal dan elektrookulografi. Hasil. Abnormalitas struktur retina didapatkan pada 46,2% subjek sedangkan abnormalitas pemeriksaan fundus autofluorescence didapatkan pada 41,9% subjek. Sebagian besar subjek memiliki tajam penglihatan dan sensitivitas kontras yang normal. Nilai tengah seluruh parameter elektroretinografi multifokal dan rasio amplitudo light peak terhadap dark trough elektrookulografi kedua kelompok subjek berada dalam rentang normal. Didapatkan penurunan sensitivitas kontras yang signifikan pada subjek dengan abnormalitas struktur retina dan makula, namun tidak untuk tajam penglihatan. Kadar feritin serum yang lebih tinggi berhubungan dengan abnormalitas struktur retina. Kesimpulan. Rerata kadar feritin serum dalam periode satu tahun dengan titik potong ≥6.000 ng/ml dapat digunakan sebagai panduan untuk memulai pemeriksaan struktur dan fungsi retina. ......Introduction. This study aims to evaluate retinal structure and function and association between iron chelation treatment duration and serum ferritin level with retinal structure abnormality in β-thalassemia major patients treated with iron-chelating agent in Cipto Mangunkusumo Hospital. Methods. This cross-sectional study was performed on β-thalassemia major patients aged more than 10 years old in Thalassemia Center, Cipto Mangunkusumo Hospital, who received iron-chelating agent for at least one year. Patients underwent ophthalmologic examination, fundus photography, and fundus autofluorescence imaging. Afterwards subsample was chosen based on fundus autofluorescence imaging result, and underwent multifocal electroretinography and electrooculography examination. Results. Retinal structure abnormality was found in 46.2% patients and fundus autofluorescence abnormality in 41.9% patients. The majority of patients had normal visual acuity and contrast sensitivity. Each multifocal electroretinography parameters and light peak to dark trough amplitude ratio in electrooculography had normal median values. Significant contrast sensitivity reduction was found on patients with retinal and macular structure abnormality, but not for visual acuity. Significant association between higher ferritin serum level and retinal structure abnormality was found. Conclusion. Mean ferritin serum level within one year with cutoff point of ≥6.000 ng/ml can be used as a guide to start retinal structure and function evaluation.

Abstrak :
Latar Belakang: Penyakit thalassemia tinggi prevalensinya di Indonesia. Modalitas MRI digunakan pasien transfusion-dependent thalassemia (TDT) yang menjalani transfusi darah berkesinambungan untuk menilai tingkat zat besi di organ hati. Pemeriksan ini memerlukan biaya tinggi dan hanya tersedia di dua kota besar di Indonesia. Kandungan zat besi yang tinggi dalam waktu yang lama di hati dapat berakibat pada kerusakan hati. Modalitas yang lebih terjangkau dari segi lokasi dan biaya diperlukan dalam menilai tingkat zat besi di organ hati pada kelompok pasien ini. Tujuan : Mengetahui kekuatan korelasi antara nilai shear wave velocity (SWV) acoustic radiation force impulse (ARFI) dengan nilai T2* MRI dalam menilai zat besi organ hati. Metode : Data primer SWV ARFI dan nilai T2* MRI dari 29 pasien TDT dikumpulkan lalu dianalisis dengan SPSS untuk mengukur korelasi. Hasil : Penelitian ini menunjukkan korelasi negatif dengan kekuatan yang moderat antara nilai SWV ARFI dan nilai T2* MRI hati (R = -0,383) yang bermakna secara statistik (Spearman P = 0,040). Kesimpulan : ARFI merupakan pemeriksaan yang memiliki korelasi dengan pemeriksaan MRI dalam menilai kandungan zat besi organ hati pasien TDT. Namun demikian, penelitian ini tidak menunjukkan hubungan yang kuat, dan oleh sebab itu mungkin dibutuhkan penelitian lebih lanjut. ......Background : Thalassemia has a high prevalence in Indonesia. MRI modalities used by patients with transfusion-dependent thalassemia (TDT) who undergo continuous blood transfusions to assess iron levels in the liver. This examination require high cost and is only available in two major cities in Indonesia. High iron content over a long time in the liver can result in liver damage. More affordable modalities in terms of location and cost are needed to assess iron levels in the liver in this group of patients. Objective: Determine the correlation strength between acoustic radiation force impulse (ARFI) shear wave velocity and T2* MRI values in assessing liver iron. Methods: ARFI SWV primary data and T2* MRI values of 29 TDT patients were collected and then analyzed with SPSS to measure correlation. Results: This study showed negative correlation with moderate strength between ARFI SWV values and liver T2* MRI values (R = -0,383) which was statistically significant (Spearman P = 0.040). Conclusion: ARFI has a correlation with MRI examination in assessing the iron content of TDT patients liver organs. However, the correlation is not strong and further studies might be needed.

Abstrak :

Latar belakang: Besi berlebih yang terakumulasi di dalam tubuh akibat transfusi darah berulang pada pasien talasemia-β mayor dapat menyebabkan kerusakan pada banyak organ, terutama hati. Besi berlebih di dalam tubuh dapat dikurangi kadarnya dengan agen kelasi besi. Mangiferin yang berasal dari sumber alami telah terbukti memiliki kemampuan sebagai agen kelasi besi, antioksidan, dan antiinflamasi. Namun, mangiferin memiliki bioavailabilitas yang rendah. Salah satu cara untuk meningkatkan bioavailabilitas mangiferin yaitu menjadikannya dalam formulasi kitosan-alginat nanopartikel. Penelitian ini bertujuan untuk membuktikan efek mangiferin dan mangiferin dalam kitosan-alginat nanopartikel pada gambaran histopatologi organ hati tikus yang diberi besi berlebih.

Metode: Dua puluh lima tikus Sprague-Dawley dibagi menjadi 5 kelompok: normal (N), kontrol negatif (KN), terapi mangiferin dosis 50 mg/kg BB/hari (M50), terapi mangiferin dalam kitosan-alginat nanopartikel dosis 50 mg/kg BB/hari (MN50), dan terapi mangiferin dalam kitosan-alginat nanopartikel dosis 25 mg/kg BB/hari (MN25). Setelah diberikan perlakuan selama 28 hari, tikus dikorbankan dan organ hati diambil untuk membuat preparat jaringan. Pengamatan dilakukan di bawah mikroskop dengan menggunakan uji lapang pandang. Parameter yang diteliti adalah gambaran nekrosis, inflamasi, dan steatosis hati.

Hasil: Pemberian mangiferin dapat memperbaiki kerusakan hati akibat besi berlebih dalam bentuk nekrosis, inflamasi, dan steatosis, secara signifikan (p <0,05) dibandingkan dengan kelompok KN. MN50 dan MN25 menunjukkan perbaikan yang signifikan pada nekrosis dan steatosis hati dibandingkan dengan M50. Kemampuan mangiferin dalam kitosan-alginat nanopartikel untuk memperbaiki nekrosis, inflamasi, dan steatosis hati, menunjukkan kecenderungan meningkat secara berurutan dari M50, MN50, dan MN25.

Kesimpulan: Mangiferin dalam kitosan-alginat nanopartikel lebih baik dalam memperbaiki gambaran histopatologi hati tikus yang diberi besi berlebih dibandingkan dengan mangiferin saja.

 

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Background: Iron overload that accumulates in the body due to repeated blood transfusions in β-thalassemia major can cause damage to many organs, especially the liver. Iron overload can be reduced by iron-chelating agents. Mangiferin from natural sources has been proven to have the ability as an iron-chelating agent, antioxidant and anti-inflammatory agent. However, mangiferin has a low bioavailability. To increase mangiferin bioavailability, formulated mangiferin in chitosan-alginate nanoparticles has been made. This study is aimed to determine the effect of mangiferin and mangiferin in chitosan-alginate nanoparticles on liver histopathology of iron overload rats.

Methods: Twenty-five Sprague-Dawley rats were divided into 5 groups: normal (N), negative control (KN), mangiferin therapy dose of 50 mg/kg BW per day (M50), mangiferin in chitosan-alginate nanoparticles therapy dose of 50 mg/kg BW per day (MN50), and mangiferin in chitosan-alginate nanoparticles therapy dose of 25 mg/kg BW per day (MN25). After treatment, the rats were sacrificed and the livers were taken to make preparations. Observations under the microscope were carried out using visual field test. The parameters studied were features of liver necrosis, inflammation, and steatosis.

Results: Mangiferin treatment can ameliorates the liver damage due to iron overload in the form of necrosis, inflammation, and steatosis, significantly (p < 0.05) compared to the KN group. MN50 and MN25 show significant amelioration in liver necrosis and steatosis compared to the M50. The ability of mangiferin in chitosan-alginate nanoparticles to ameliorates liver necrosis, inflammation, and steatosis, show a tendency to increase sequentially from M50, MN50, and MN25.

Conclusion: Mangiferin in chitosan-alginate nanoparticles ameliorates the liver histopathological features of iron overload rats better than mangiferin alone.