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"Mukopolisakaridosis tipe II (MPS II) merupakan penyakit kelainan lisosomal langka yang disebabkan oleh mutasi pada gen iduronat 2-sulfatase (IDS) dapat menyebabkan disfungsi dari enzim I2S yang dihasilkan sehingga molekul heparan sulfat (HS) dan dermatan sulfat (DS) terakumulasi pada jaringan. Penelitian ini dilakukan untuk mengetahui dan menganalisis hubungan kadar HS dan DS urin dengan jenis mutasi gen IDS pada penderita MPS II di Indonesia. Data susunan nukleotida gen IDS dari tujuh pasien MPS II dianalisis untuk melihat jenis mutasi dan dibuat model 3D proteinnya. Analisis 3D protein akan dikorelasikan dengan kadar HS dan DS urin pasien tersebut yang diukur menggunakan metode Enzyme-Linked Immunosorbent Assay (ELISA). Hasil analisis mutasi ditemukan beberapa jenis mutasi, seperti mutasi nonsense (1/7), delesi (2/7), insersi (1/7), dan missense (3/7). Dari ketujuh pasien tersebut, tiga diantaranya (P2, P6, P7) telah menjalani terapi ERT. Kadar HS urin dari ketujuh pasien menunjukkan peningkatan yang beragam dibandingkan dengan kadar HS normal. Berbeda dengan HS, kadar DS urin sampel pasien ada yang mengalami sedikit peningkatan (P1, P2, P7) dan ada pula yang tetap berada pada rentang kadar DS normal (P3, P4, P5, P6). Keragaman kadar HS dan DS sampel pasien tersebut sangat dipengaruhi oleh letak mutasi, jenis mutasi, diagnosis dan prognosis yang ditegakkan sedini mungkin, terapi ERT yang telah dilakukan pasie, durasi ERT, dan respon masing-masing pasien terhadap pengobatan yang telah diberikan.

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Mucopolysaccharidosis type II (MPS II) is a rare lysosomal disorder caused by mutations in the iduronat 2-sulfatase (IDS) gene that can cause dysfunction of I2S enzyme so that the heparan sulfate (HS) and dermatan sulfate (DS) molecules accumulate in the tissue. This study was conducted to determine and analyze the relationship of urinary HS and DS levels with the type of IDS gene mutation in MPS II patients in Indonesia. The nucleotide of IDS genes sequences from seven MPS II patients were analyzed to see the type of mutation and the 3D protein model was made. 3D protein analysis will be correlated with urinary HS and DS levels of the patients measured by using the Enzyme-Linked Immunosorbent Assay (ELISA) method. Results of mutation analysis results found several types of mutations, such as nonsense mutations (1/7), deletions (2/7), insertions (1/7), and missense (3/7). From the seven patients, three of them (P2, P6, P7) had undergone ERT therapy. The urine HS level of the seven patients showed a varied increase compared to normal HS levels. In contrast to HS, the urine DS level of the sample of patients had a slight increase (P1, P2, P7) and some remained in the normal DS level range (P3, P4, P5, P6). The diversity of HS and DS levels of the patient's samples is strongly influenced by the location of the mutation, type of mutation, diagnosis and prognosis that is enforced as early as possible, ERT therapy has been carried out, ERT duration, and each patient's response to the treatment given."

"Latar belakang: Mukopolisakaridosis (MPS) tipe II adalah kelainan genetik yang ditandai dengan gangguan metabolik berupa defisiensi enzim iduronat-2-sulfatase (I2S) karena adanya mutasi pada gen iduronat-2-sulfatase (IDS), sehingga heparan sulfat dan dermatan sulfat tidak terdegradasi dan terakumulasi pada jaringan. Penelitian ini dilakukan untuk menganalisis aktivitas spesifik enzim I2S dan kaitannya dengan varian mutasi gen IDS pada pasien MPS II di Indonesia. Metode: Data sekuen nukleotida gen IDS dari enam pasien MPS II dianalisis untuk melihat jenis mutasi serta dibuat model konformasi proteinnya. Sel peripheral blood mononuclear cell (PBMC) diisolasi menggunakan metode sentrifugasi bertingkat dan dikultur menggunakan medium RPMI. Nilai aktivitas spesifik I2S diperoleh dengan mengukur aktivitas I2S per miligram konsentrasi total protein. Aktivitas enzim I2S diukur menggunakan metode fluorometri, sementara konsentrasi total protein diukur menggunakan bicinchoninic acid (BCA) protein assay. Hasil: Tiga varian mutasi yang ditemukan pada pasien MPS tipe II adalah missense (3/6), delesi (2/6), dan nonsense (1/6). Aktivitas enzim spesifik I2S pada pasien menunjukkan angka yang bervariasi. Mutasi dengan rata-rata aktivitas spesifik I2S paling rendah sampai paling tinggi secara berurutan adalah mutasi delesi (0,026 nmol/min/mg), missense (0,052 nmol/min/mg), dan nonsense (0,052 nmol/min/mg). Kesimpulan: Aktivitas spesifik enzim I2S pada pasien MPS tipe II di Indonesia 0,044 nmol/min/mg, sedangkan pada kontrol adalah 0,172 nmol/min/mg. Nilai rata-rata aktivitas spesifik I2S pada pasien menurun empat kali lipat dibandingkan pada kontrol.

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Background: Mucopolysaccharidosis type II (MPS II) is an inherited metabolic disorder that caused by iduronate-2-sulfatase (I2S) enzyme deficiency due to mutations in the iduronate-2-sulfatase (IDS) gene, so that heparan sulfate and dermatan sulfate do not be degrade and accumulate in tissues. This study was conducted to analyze the specific activity of I2S and its relationship to IDS variant mutation of MPS II patients in Indonesia.

Method: IDS gene nucleotide sequences from six MPS II patients were analyzed to see mutation type and protein conformation model was made. Peripheral blood mononuclear cell (PBMC) were isolated using a stratified centrifugation and cultured using the RPMI medium. I2S specific activity values are obtained by measuring I2S activity per milligram of total protein concentration. I2S enzyme activity was measured using fluorometry method, while total protein concentration was measured using bicinchoninic acid (BCA) protein assay.

Result: There were three variant mutation in MPS II patients, such as missense (3/6), deletion (2/6), and nonsense (1/6). I2S specific enzyme activity shows varying numbers. IDS mutation based on I2S specific activity from lowest to highest mean value are deletion (0.026 nmol/min/mg), missense (0.052 nmol/min/mg), and nonsense (0.052 nmol/min/mg).

Conclusion: I2S specific activity in MPS II patient is 0,044 nmol/min/mg, while the control is 0,172 nmol/min/mg based on the mean value. I2S specific activity in patients decreased four times compared to controls."

"Pasien leukemia mieloblastik akut (LMA) yang mencapai remisi komplet pascaterapi induksi di Indonesia hanya 49%, dan event-free survival (EFS) hanya 10%. Angka kekambuhan dan kematian terkait kemoterapi menjadi penyebab rendahnya luaran tersebut. Untuk meningkatkan luaran dan mengurangi efek samping pengobatan perlu dilakukan stratifikasi risiko menggunakan profil sitogenetik maupun imunofenotipe. Tujuan penelitian ini adalah mendapatkan profil imunofenotipe, kariotipe, mutasi FLT3-ITD dan NPM1 (variabel prognosis), serta hubungannya dengan respons kemoterapi induksi.Penelitian dilakukan dengan desain kohort analitik pada LMA usia 1–18 tahun di RSCM, RSABHK, RSKAD, RSPAD pada bulan November 2018 hingga Maret 2020. Pemeriksaan yang dilakukan meliputi ekspresi CD7, CD19, kariotipe t(8,21), inv(16), mutasi NPM1 dan FLT3-ITD, kemudian dinilai hubungannya dengan kejadian remisi setelah mendapat terapi induksi dengan protokol LMA Nasional.Dari 42 subjek diperoleh median usia 8 tahun 11 bulan (3–213 bulan). Tipe LMA terbanyak adalah M1, diikuti M2. Gejala klinis tersering pucat (33/42) dan demam (25/42). Tanda klinis terbanyak hepatomegali (17/42) dan splenomegali (18/42). Subjek dengan CD7+ 21,4%, CD19+ 11,9%. Translokasi t(8;21) terdeteksi pada 1dari 18 (5,6%) subjek, inv(16) pada 4 dari 18 ((22%) subjek, 7 dari 18 subjek termasuk kelompok kariotipe favorable. Sebanyak 2 dari 28 (7%) subjek memiliki mutasi FLT3-ITD. Mutasi NPM1 tidak ditemukan. Ekspresi CD7 lebih dominan berperan dibandingkan usia dan jumlah leukosit saat diagnosis sebagai faktor prognosis baik. Analisis multivariat menunjukkan hubungan bermakna antara variabel prognosis dengan respons terapi induksi. Aberans CD7, inv(16) dan mutasi FLT3-ITD memiliki risiko relatif lebih tinggi untuk remisi (masing-masing incidence rate ratio/IRR 3,39 (IK 95% 1,43–8,04); IRR 2,36 (IK 95% 1,08–5,17); dan IRR 4,08 (IK 95% 1,78–9,34)). Nilai IRR aberans CD19 dan t(8;21) IRR < 1.Penelitian ini menunjukkan aberans CD7, inv(16) dan mutasi FLT3-ITD dapat dijadikan faktor prognosis baik sedangkan aberans CD19, kariotipe t(8;21) dapat dijadikan faktor prognosis buruk pada LMA anak di Indonesia.

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Currently, pediatric acute myeloid leukemia (AML) patients who achieved complete remission after induction therapy has reach only 49% with 10% event-free survival (EFS) rate. The relapse rate and mortality related to chemotherapy are the causes of this low outcome. To improve outcomes and reduce side effects of treatment, it is necessary to carry out risk stratification using cytogenetic profiles and immunophenotypes. The purpose of this study was to obtain profiles of immunophenotype, karyotype, FLT3-ITD and NPM1 mutations (prognostic variables), and their relationship to the response to induction chemotherapy.

The study was conducted with an analytical cohort design on AML patients aged 1–18 years at RSCM, RSABHK, RSKAD, RSPAD from November 2018 to March 2020. The examinations included expression of CD7, CD19, karyotype t(8.21), inv(16), NPM1 and FLT3-ITD mutations, then assessed the relationship with the incidence of remission after receiving induction therapy with the National AML protocol.

Of the 42 subjects, the median age was 8 years 11 months (3–213 months). The most common type of AML was M1, followed by M2. The most common clinical symptoms were pallor (33/42) and fever (25/42). The most common clinical signs were hepatomegaly (17/42) and splenomegaly (18/42). Subjects with CD7+ 21.4%, CD19+ 11.9%. Translocation t(8;21) was detected in 1 of 18 (5.6%) subjects, inv(16) in 4 of 18 ((22%) subjects, 7 of 18 subjects included in the favorable karyotype group. A total of 2 of 28 (7%) subjects had FLT3-ITD mutations. NPM1 mutation was not found. Role of CD7 expression as prognostic factor was more dominant than age and leukocyte count at diagnosis. Multivariate analysis using generalized linear model showed a significant relationship between prognostic variables and response to induction therapy. CD7 aberrant, inv(16) and FLT3-ITD mutations had a higher relative risk for remission (respectively incidence rate ratio /IRR 3.39 (95% CI 1.43–8.04); IRR 2.36 (95% CI 1.08–5.17); and IRR 4.08 (95% CI 1.78–9.34)). Incidence rate ratio value of CD19 aberrant and t(8;21) IRR < 1.

This study showed that CD7 aberrant, inv(16) and FLT3-ITD mutations can be used as good prognostic factors, while CD19 aberrant, t(8;21) karyotype can be used as poor prognostic factors for pediatric AML in Indonesia."

"Latar Belakang: Retinopati Prematuritas atau ROP merupakan gangguan vaskular retina bayi prematur yang dapat menyebabkan pelepasan retina dan terjadinya kebutaan. Variasi gen Norrie disease Pseudoglioma (NDP) serta paparan oksigen diduga terlibat dengan kejadian dan perkembangan ROP.Tujuan: Mengetahui peran variasi NDP serta faktor layanan neonatal khususnya paparan oksigen dalam memprediksi kejadian ROP pada bayi prematur Indonesia. Metodologi: Studi dilaksanakan tahun 2009-2014 di beberapa pusat pelayanan perinatologi dan mata sekitar Jakarta. Sebanyak 6 situs mutasi pada ekson 3 dideteksi yaitu C597A, L108P, R121W, A105T, Val60Glu, dan C110G. Perubahan susunan basa gen NDP dianalisis dengan mengampilifikasi gen NDP bagian ekson 3 menggunakan metode Polymerase Chain Reaction (PCR-RFLP dan PCR-SSP). Hasil diverifikasi dengan sekuensing DNA. Model multivariat hasil analisis regresi logistik dan regresi Cox digunakan sebagai model skoring untuk memprediksi kejadian dan keparahan ROP.Hasil: Tidak ditemukan polimorfisme dan mutasi pada situs NDP exon 3. Hasil analisis multivariat didapatkan BBL, PJT(NCB-KMK), transfusi tukar, lama suplementasi O2, SpO2 terendah, dan sosial ekonomi sebagai variabel yang berhubungan dengan kejadian ROP. Sedangkan dalam hubungannya dengan keparahan ROP, didapatkan usia gestasi, lama suplementasi O2 > 7 hari, SpO2 terendah, rujukan RS, dan sosial ekonomi.Kesimpulan: Tidak didapatkan polimorfisme dan mutasi gen NDP exon 3 pada kasus ROP bayi prematur Indonesia. Lama suplementasi O2 dan nilai SpO2 terendah mempunyai peran dalam meningkatkan risiko kejadian dan berkembangnya ROP menjadi lebih berat.

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Background: Retinopathy Prematurity or ROP is retinal vascularization disorder on premature infants that causing retina detachment and eventually blindness. NDP gene mutation and oxygen exposure might have role in incidence of ROP.Objective: This study was conducted to determine the role of NDP gene polymorphism and mutation, and oxygen exposure for predicting the incidence of ROP in Indonesia.Methodology: Data were collected from few Perinatology and Opthalmology centres around Jakarta during 2009-2014. DNA samples isolated from blood and buccal cell. This study tried to detect 6 mutations site on exon 3 of NDP gen which are C597A, L108P, R121W, A105T, Val60Glu, and C110G. Alterations of NDP gene were analized with amplification of NDP gene in exon 3 region using Polymerase Chain Reaction (PCR-RFLP dan PCR-SSP) methods. The result verified with DNA sequencing. Scoring model were made by using logistic regression to predict the incidence and development of ROP.Result: No NDP gene polymorphism and mutations at exon 3 region was detected. The result have been analized with PCR-RFLP and verified with DNA sequencing. Multivariate analysis using logistic regression for incidence of ROP retain birth weight, IUGR, gender, respiratory distress, exchange transfussion, length of O2 supplementation, SpO2 minimum, and socioeconomic variables. As for ROP severity, multivariate analysis retain gestational age, gender, access to hospital (inborn/outborn), apnea, length of O2 supplementation, SpO2 minimum, and socioeconomic variables.Conclusion: The relationship between polymorphisms and mutations of NDP gene and ROP cases that happened in Indonesian premature infants population did not showed in this study. Length of O2 supplementation and minimum value of SpO2 85 - 90% significantly increase the risk for ROP incidence and development of severe ROP."

"Respon wanita usia reproduktif yang mengikuti program reproduksi berbantuan sangat bervariasi terhadap induksi FSH. Variasi respon berkisar dari tidak ada respon/respon yang sangat lemah sampai menyebabkan sindrom hiperstimulasi. Hiperstimulasi dapat menyebabkan komplikasi serius seperti terjadinya pembesaran ovarium dan ekstravasasi cairan pada rongga perut sehingga terjadi ascites, hypovolemia dan hemoconcentration. Hasil studi menunjukkan bahwa genotip receptor FSH merupakan salah satu faktor penentu respon ovarium terhadap FSH. Sampai saat ini dlketahui ada dua polimorfisme pada gen reseptor FSH. Sensitivitas reseptor FSH ditentukan oleh kombinasi alel yang terbentuk. Namun yang menjadi pertanyaan apakah hanya polimorfisme pada gen struktur yang menentukan sensitivitas reseptor FSH. Hasil penelitian pendahuluan kami pada daerah promotor reseptor FSH sepanjang 231 pb menunjukkan adanya dua mutasi titik pada posisi -29 dan -114. Untuk mengetahui apakah daerah promotor reseptor FSH manusia polimorfik dan apakah polimorfisme mempengaruhi sensitivitas ovarium terhadap FSH, maka dilakukan skrining polimorfisme promotor reseptor FSH pada 262 sampel wanita Jarman dan 54 sampel wanita Indonesia yang mengikuti program IVF/ICSI menggunakan teknik PCR-SSCP-sekuensing dan TaqMan, dan melihat korelasi antara polunorfisme dengan level FSH basal dan kebutuhan ampul FSH untuk induksi ovarium. Untuk mengetahui apakah polimorfisme tersebut mempengaruhi aktivitas promotor, dilakukan analisis fungsional dengan cara mendeteksi aktivitas gen reporter luciferase pada sel COS-7, JC-414 dan SK-11. EMSA dilakukan untuk mengetahui apakah polimorfisme mempengaruhi kemampuan binding faktor transkripsi pada situs spesifiknya.Hasil penelitian menunjukkan bahwa daerah promotor reseptor FSH polimorfik yang dibuktikan dengan ditemukannya lima single nucleotide polymorphisms (SNPs) pada posisi 29, 37, -114, -123, dan -138 di samping ditemukannya variasi jumlah basa adenin (A) pada promotor inti reseptor FSH. Polimorfisme pada posisi -29 (G -> A) ditemukan dengan frekuensi tertinggi. Pada wanita Jerman distribusi frekuensinya adalah 7,25% homozigot AA, 30,92% heterozigot AG, dan 61,83% homozigot GG, sedangkan pada wanita Indonesia distribusi frekuensi alel yang didapatkan adalah 22,2% homozigot AA, 50% heterozigot AG, dan 27,8% homozigot GG. Terdapat perbedaan yang bermakna dari distribusi alel polimorfisme pada posisi -29 di antara kedua etnic yang diteliti Polimorhsme pada empat posisi lainnya (-37, A -> G), (-114, T -> C), (-123, A -> G), dan (-138, A -> T) ditemukan dalam frekuensi yang rendah (< 5%). Polimorfisme pada posisi -123 menurunkan aktivitas promotor secara bermakna (p < 0,05) yang terukur dari penurunan ekspresi gen reporter luciferase, sebaliknya polimorfisme pada posisi -37 dan -138 meningkatkan aktivitas promotor secara bermakna (p < 0,05). Polimorfisme pada dua posisi lainnya. (-29 dan -114) menurunkan aktivitas promotor secara tidak bermakna. Hasil EMSA pada probe yang mengandung polimorfisme pada -138 memperlihatkan terbentuknya kompleks DNA-protein spesifik dengan ukuran yang lebih kecil dibanding probe wild type yang diduga sebagai hasil terlepasnya satu protein dari situs bindingnya akibat adanya polimorfisme. EMSA yang dilakukan menggunakan probe yang mengandung polimorfisme pada -123 menunjukkan terjadinya penurunan intensitas sinyal pita yang dihasilkan dibanding wild type probe. Diduga polimorfisme menurunkan kemampuan binding faktor transkipsi pada situs spesifikaya. Hasil penelitian juga menunjukkan bahwa tidak ditemukan perbedaan yang bermakna pada level FSH basal di antara ketiga alel berdasarkan polimorfisme pada posisi -29 pada kelompok wanita Jerman dan Indonesia, di samping tidak ditemukannya perbedaan yang bermakna di antara ketiga alel dari kedua kelompok sampel wanita terhadap jumlah ampul FSH yang dibutuhkan untuk stimulasi ovarium. Namun terdapat kecenderungan bahwa wanita dengan alel GG mempunyai level FSH basal yang lebih tinggi dan membutuhkan jumlah ampul FSH yang lebih banyak dibanding wanita dengan alel AA.

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It has been known that the response to FSH stimulation varies broadly among women undergoing assisted reproduction. The variations of response range from no response/ extremely low response to one leading to hyper stimulation syndrome. Hyper stimulation may lead to serious complication manifested in ovarian enlargement and extravasations of fluid to the abdominal cavity resulting in ascites, hypovolemia and hemoconcentration. Previous studios indicated that the FSHR genotype is one of the critical factors for ovarian response to FSH stimulation. Two polymorphisms of FSHR have been known so far where the sensitivity of FSHR is determined by the allelic combination involved.. Nevertheless, it was still unclear whether the polymorphism of the structural gene is the sole factor determining the FSHR sensitivity.

Our preliminary study on promoter region of FSHR gene span over 231 bp found two point mutations at position -29 and -114. In order to get understanding of whether promoter region of human FSHR gene is polymorphic and whether the polymorphisms influence the promoter activity leading to ovarian sensitivity to FSH stimulation, the study of this FSHR promoter polymorphisms were carried out on 262 samples of German women and 54 Indonesian women participating in IVFIICSI program by means of PCR-SSCP-sequencing and TaqMan technology. Functional analysis were done to know whether the polymorphic promoter have different activity than the wild type by measuring the luciferase gene expressions in COS-7, JC-410 and SK 11. We also did EMSA to know whether polymorphisms influence the binding capacity of transcription factors to their specific binding sites.

The results indicated that the promoter region of FSHR gene is polymorphic, which was proved by the discovery of five single nucleotide polymorphisms (SNPs) at positions: - 29, -37, -114, -123 and -138 in addition to the finding of adenines (As) base content variation in the core promoter of FSHR gene. The polymorphism at position -29 (G -~ A) was found to be the highest frequency. In German women the distributions of allelic frequency were 7.25% for homozygous AA, 30.92% for heterozygous AG and 61.83% for homozygous GG, while in Indonesian women the distributions of allelic frequency were 22.2% for homozygous AA, 50% for heterozygous AG and 27.8% for homozygous GG. There were significantly different in allele distributions at position -29 between two ethnic groups involved.

The polymorphisms at four alternative position (--37, A -> G), (-114, T -> C), (-123, A -> G), and (-138, A -> T) were found at low frequency (< 5%). Polymorphism at position -123 lead to significantly decrease in promoter activity (p < 0.05) as indicated by the decreasing of luciferase reporter gene expression. Conversely, the polymorphism at positions -37 and -138 lead to significantly increase in promoter activities (p < 0.05). The polymorphisms in other two positions (-29 and -114) lead to insignificant decreasing the promoter activities. EMSA studies on probe with polymorphism at position -138 indicated the formation of specific DNA-protein complex with smaller size than the wild type probe. This is considered to the dissociation of protein from its binding site due to polymorphism on it. EMSA studies using probe with polymorphism at position -123 indicated the decreasing of band intensity as compared to wild type probe. It is assumed that polymorphism on this site lead to decreasing the capacity of transcription factor to bind to its site.

This study also indicated that there were no significant differences on the FSH basal levels in the three alleles groups or the number of FSH ampoules needed for ovarian stimulation according to polymorphism at position -29 in German or Indonesian women either. However, there was a tendency that women carrying GG alleles have the higher FSH levels and need more FSH ampoules than the AA women."

"Anak sakit kritis terutama sepsis mengalami degradasi protein yang tinggi, yang memperburuk luaran bila masukan nutrisi tidak adekuat. Kiraan jumlah kebutuhan protein yang ada saat ini ternyata dalam praktiknya kurang dari 90 memenuhi target kebutuhan. Di lain sisi, variasi genetik individu juga memengaruhi luaran. Polimorfisme gen TNF?-308 berhubungan dengan luaran yang buruk berbagai penyakit infeksi dan inflamasi, walaupun hasil yang diperoleh berbeda-beda.Penelitian ini bertujuan mengetahui hubungan nutrisi tinggi protein terhadap prognosis pasien sepsis skor PELOD , lama rawat dan lama pemakaian ventilator, serta menganalisis peran pelbagai faktor yang berperan terhadap skor PELOD, termasuk polimorfisme gen TNF?-308.Penelitian ini merupakan uji klinis randomisasi pada 80 anak sepsis di 4 rumah sakit. Intervensi diberikan asam amino parenteral, yaitu Aminosteril infant 6 untuk usia < 1 tahun dan Aminofusin pediatric 5 untuk usia ge; 1 tahun. Kelompok eksperimental diberikan asam amino 4 g/KgBB/hari, sedangkan kelompok kontrol menerima 2 g/KgBB/hari selama tiga hari, kemudian dilakukan pencatatan skor PELOD pada hari ke-1,2 dan 3, lama hari rawat dan lama pemakaian ventilator. Dilakukan pemeriksaan keseimbangan nitrogen selama tiga hari, pemeriksaan kadar prealbumin hari ke-1 dan ke-3, pemeriksaan kadar TNF-? dan IL-10. Pemeriksaan polimorfisme dengan metode PCR polymerase chain reaction ndash; RFLP restriction fragment length polymorphism . Pada kelompok kontrol, diperoleh rerata skor PELOD pada hari ke-1 20,5 10,6 , hari ke-2 19,8 13,8 dan hari ke-3 19,8 15,4 ; median lama rawat 7 hari 3 ndash;19 dan median lama pemakaian ventilator 5 hari 1 ndash;14 . Pada kelompok eksperimental, diperoleh rerata skor PELOD berturut-turut 22,4 10,8 ; 20,5 13,9 ; 18,8 14,5 ; median lama rawat 7 hari 4 ndash;27 dan median lama pemakaian ventilator 4 hari 1 ndash;27 . Tidak ditemukan perbedaan bermakna skor PELOD, lama rawat dan lama pemakaian ventilator antara 2 kelompok. Diperoleh perbedaan bermakna secara statistik pada keseimbangan nitrogen baik hari ke-1,2, dan 3 p = 0,003; p = 0,016; p = 0,046 . Dari 80 subjek, 6 subjek 7,5 dengan polimorfisme gen TNF?-308 G/A atau heterozigot dan tidak ditemukan homozigot.Tidak ditemukan peran usia, jenis kelamin, status gizi, pemberian nutrisi tinggi protein dan polimorfisme gen TNF?-308 terhadap skor PELOD. Kata kunci: polimorfisme gen TNF?-308, protein tinggi, sepsis

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Critically ill children, particularly with sepsis, have high protein degradation which worsens outcome if nutritional intake are inadequate. Currently, the estimated protein requirement is less than 90 target requirement. In addition, individual genetic variation also affects the outcome of these population. Tumor necrosis factor TNF 308 gene polymorphism is associated with poorer outcome of several infectious disease and inflammation, although the results are conflicting.This study aimed to determine the association between high protein nutrition intervention with prognosis of sepsis which is measured by PELOD score, length of stay, and duration of mechanical ventilation use. We also analyze the role of TNF 308 gene polymorphism which contribute to PELOD score.This was a randomized clinical trial in 80 children with sepsis in four hospitals. The interventions were parenteral amino acid, which includes Aminosteril infant 6 for subjects aged below one year and Aminofusin pediatric 5 for subjects aged above one year. Subjects in the experimental group were provided with amino acid 4 g KgBW day while those in the control group were provided with amino acid 2 g KgBW day for three consecutive days. PELOD scores in day 1, 2, 3, length of stay, and duration of mechanical ventilation use, were recorded. Nitrogen balance was measured for three days and prealbumin levels were measured in day 1 and 3. TNF and IL 10 levels were also measured. Polymorphism was measured using polymerase chain reaction PCR ndash restriction fragment length polymorphism RFLP .In the control group, the mean PELOD score on day 1, 2, 3 were 20.5 10.6 , 19.8 13.8 , and 19.8 15.4 , respectively. Median length of stay was 7 3 ndash 19 days and median duration of mechanical ventilation was 5 1 ndash 14 days. In the experimental group, obtained mean PELOD score was 22.4 10.8 20.5 13.9 18.8 14.5 consecutively median length of stay was 7 days 4 ndash 27 and median duration of ventilator use was 4 days 1 ndash 27 . There was no significant difference in PELOD score, length of stay, and duration of mechanical ventilation use between both groups. There was a significant difference in nitrogen balance on day 1, 2, and 3 p 0.003, p 0.016, and p 0.046, respectively . Of the 80 subjects, 6 7.5 subjects with TNF 308 G A gene polymorphism or heterozygotes, and no homozygote was found.Age, gender, nutritional status, provision of high protein nutrients, and TNF 308 gene polymorphism have no significant role in PELOD score. Keywords high protein, sepsis, TNF 308 gene polymorphism."