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Abstrak :
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.

Abstrak :
Obesitas merupakan masalah yang mengancam dunia dan Indonesia. Data dari Riset Kesehatan Dasar Riskedas 2013, Indonesia masih memiliki kecenderungan pola diet tinggi lemak. Faktor genetik berperan 40-70 terhadap indeks massa tubuh IMT . Salah satu gen yang diduga memengaruhi obesitas adalah gen FTO, dan variasi genetik terkuat adalah rs9939609 subtitusi T/A. Variasi gen FTO rs9939609 dilaporkan menimbulkan ekspresi berlebihan dari gen FTO, yang akan memicu adipogenesis melalui demetilasi m6A yang berperan dalam alternatif splicing. Ekspresi berlebihan di hipotalamus memengaruhi pemilihan makanan densitas tinggi. Penelitian ini menggunakan pendekatan studi potong lintang komparatif yang bertujuan untuk melihat hubungan antara polimorfisme gen FTO rs9939609 dengan obesitas dan pola asupan lemak pada subyek dewasa di Indonesia. Subyek terdiri dari 40 non obes dan 40 obes, usia 19-59 tahun, dan berdomisili di DKI Jakarta. Dilakukan pengukuran IMT, lingkar pinggang, massa lemak, persentase massa lemak, dan wawancara kuesioner FFQ semikuantitatif dan food recall 2x24 jam. Pemeriksaan gen FTO rs9939609 dengan metode ARMS PCR. Distribusi genotipe berada pada kesetimbangan Hardy-Weinberg p=0,72 dengan MAF=0,19. Subyek dengan genotipe AT/AA memiliki risiko obesitas 1,39x p=0,009 dan pola asupan lemak 1,73x p=0,011 lebih tinggi dibandingkan dengan genotipe TT. Subyek obes dengan genotipe AT/AA memiliki kecenderungan pola asupan tinggi lemak 0,714x lebih tinggi dibandingkan dengan genotipe TT. Kesimpulan: Subyek dengan FTO rs9939609 genotipe AT/AA memiliki risiko obesitas yang lebih tinggi dan cenderung memilih makanan tinggi lemak dibandingkan dengan subyek genotipe TT. ......Obesity is a global health problem including in Indonesia. Baseline Health Research Riskesdas 2013, Indonesia tended to have high dietary fat. Available data demonstrated that genetic factors are associated with BMI 40 70. The FTO gene has been well documented as one of the genes to be associated with obesity by modulating adipogenesis with alternative splicing through m6A demethylation. FTO gene variation rs9939609 was reported to lead to FTO mRNA overexpression in hypothalamus, which induce a preference towards high energy dense foods. However, the correlation between FTO gene variation rs9939609 and fat intake pattern is still not well described. This study aimed to investigate the relationship between FTO gene rs9939609 with obesity and fat intake pattern of Indonesian adults. A cross sectional comparative study design was applied in this study by recruiting 40 non obese and 40 obese subjects, aged 19 59, who were living in DKI Jakarta. Measurements included BMI, waist circumference, fat mass, fat mass percentage, and interview with FFQ semi quantitative and food recall 2x24 questionaire. Genetic variation was determine by ARMS PCR. The genotype distribution of FTO gene rs9939609 was at Hardy Weinberg equilibrium p 0.72 with MAF 0.19. This study showed that the AT AA genotype has 1.39x higher risk of obesity p 0.009 and 1.73x higher dietary fat intake p 0.011 than the TT genotype. Obese subjects with AT AA genotype tended to have higher dietary fat intake of 0.714x than the obese subjects with TT genotype. These findings suggest that subjects with the AT AA genotype of the FTO rs9939609 have higher obesity risk and preference to high dietary fat intake than subjects with the TT genotype.

Abstrak :
ABSTRAK
Overweight dan obesitas adalah akumulasi lemak yang berlebihan yang dapat mengganggu kesehatan. Obesitas merupakan salah satu risiko untuk terjadinya gangguan kardiometabolik. Adanya polimorfisme gen UCP1, menyebabkan bervariasinya respons terhadap olahraga teratur SALI.Penelitian ini bertujuan menganalisis pengaruh senam aerobik low impact SALI pada perempuan obes abdominal yang memiliki polimorfisme gen UCP1 terhadap parameter kardiometabolik lingkar pinggang LP , kadar trigliserida TG dan penanda inflamasi Monocyte Chemmoattractant Protein-1 MCP1 .Desain penelitian adalah non randomized controlled trial. Intervensi 12 minggu terhadap 55 orang wanita obes abdominal, terdiri dari 32 orang kelompok intervensi SALI dan 23 orang kelompok kontrol. Sebelum dan sesudah program dilakukan pemeriksaan parameter kardiometabolik LP, kadar TG dan MCP1. Pemeriksaan polimorfisme -3826 A>G gen UCP1 menggunakan teknik PCR diikuti teknik RFLP.Ditemukan frekuensi genotip AA 21 orang 38,2 , genotip AG 27 49,1 dan genotip GG 7 12,7 , dengan frekuensi alel G 0,40 . Subjek dengan kadar TG ge; 130 mg/dL kelompok SALI 100 responders, Kontrol 55 , dan kelompok kadar TG < 130 mg/dL, 22 . Subjek genotip GG polimorfisme gen UCP1 dengan kadar TG ge; 130 mg/dL high responders. genotip AA low responders. Temuan ini diperkirakan terkait jumlah langkah per hari kelompok genotip GG dengan TG ge; 130 mg/dL lebih tinggi dibandingkan kelompok nonresponders.

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ABSTRACT
Overweight and obesity were the accumulation of excessive fat that could harm health. Obesity was a risk for cardiometabolic disorders. The polymorhism of UCP1 gene, caused variations in response to regular exercise. This study aims to investigate the influence of low impact aerobics exercise LIAE in abdominal obes women who had the polymorphism of UCP1 gene on cardiometabolic parameters, waist circumference WC , levels of triglyceride TG and inflammatory markers Monocyte Chemoattractant Protein 1 MCP1 . The study design was non randomized controlled trial. A total of 55 women subjects moderately obes women were divided into two groups on the basis of location. Thirty two subjects of LIAE group and 23 a non LIAE control group. Subjects were not restricted in foods consumed. The study period was 12 weeks. Outcome assessments for analyses were completed at baseline and 12 weeks for cardiometabolic parameters WC, TG and MCP1. Examination of the polymorphism 3826 A G UCP1 gene using PCR technique followed by RFLP technique. The frequencies of three genotypes of 3826 A G polymorphism of UCP1 gene were AA, AG, and GG were of 21 38.2 , 27 49.1 and 7 12.7 respectively with the G allele frequency of 0.40 . Post study obtained the subjects with TG baseline TG ge 130 mg dL 100 LIAE responders group, Control 55 , while TG

Abstrak :
ABSTRAK Latar Belakang: Cheilitis angularis adalah penyakit inflamasi yang dipicu oleh faktor genetik, lingkungan dan agen infektif. Gen Toll Like Receptor 2 (TLR2) merupakan komponen penting dalam respon imun innate. Tujuan: Penelitian ini bertujuan untuk menganalisis distribusi polimorfisme gen Toll Like Receptor 2 (TLR2) pada cheilitis angularis dan non cheilitis angularis. Metode: 50 sampel cheilitis angularis dan 50 sampel non cheilitis angularis digunakan dalam penelitian ini. Campuran TLR2 16934 T/A dengan ddH2O, enzim polimerase dan DNA template dianalisis menggunakan teknik PCR RFLP, yang menggunakan HphI sebagai enzim restriksi, dilanjutkan dengan elektroforesis. Hasil: Genotip terbanyak yang ditemukan pada cheilitis angularis dan non cheilitis angularis adalah genotip TT. Jumlah genotip dan alel polimorfik paling banyak ditemukan pada cheilitis angularis (22% dan 13%) dibandingkan non-cheilitis angularis (12% dan 6%). Uji Continuity Correction menunjukkan tidak terdapat perbedaan bermakna antara cheilitis angularis dan non-cheilitis angularis. Kesimpulan: Terdapat hubungan antara polimorfisme gen TLR2-16934 T/A dan cheilitis angularis.

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ABSTRACT Background: Angular cheilitis is an inflammatory disease induced by genetic, environmental and infective agent factors. Toll Like Receptor 2 (TLR2) gene is essential components for innate immunity response. Objective: This study aimed to analyzed distribution of Toll Like Receptor 2 (TLR2) gene polymorphism in angular cheilitis and non angular cheilitis. Methods: 50 samples angular cheilitis as case group and 50 samples non angular cheilitis as control group were used in this research. TLR2-16934 T/A mixed with ddH2O, polymerase enzyme and DNA template were analyzed using PCR RFLP technique, which used HphI as restriction enzyme, then followed by electrophoresis. Subsequently assessed with statistical analysis using Continuity Corrections test. Results: The most genotype found in angular cheilitis and non angular cheilitis was TT genotype. The amount of polymorphic genotype and allele were recorded greater in angular cheilitis (22% and 13%) than non-angular cheilitis (12% and 6%). Continuity Corrections test showed no significant differences between angular cheilitis and non ngular cheilitis (p-value=0,287). Conclusion: There is an association between TLR2-16934 T/A gene polymorphism and angular cheilitis.

Abstrak :
Tujuan: Mengetahui hubungan antara polimorfisme gen Myosin 1H dan P561T dengan pertumbuhan dan perkembangan mandibula pada kasus maloklusi kelas I, II dan III. Metode penelitian: Subjek merupakan pasien dengan dengan kasus maloklusi skeletal kelas I, II dan III berusia 17 - 45 tahun yang sedang dan akan melakukan perawatan ortodonti di klinik ortodonti RSGM-FKGUI, yaitu 50 orang dengan maloklusi skeletal kelas I sebagai kontrol, 50 orang dengan maloklusi skeletal kelas II dan 50 orang dengan maloklusi skeletal kelas III. Penentuan maloklusi kelas I, II dan III berdasarkan analisis radiografis sefalometri awal dengan metode Stainer. Sampel DNA diekstraksi dari potongan kuku dan folikel rambut pada kasus maloklusi skeletal kelas III dan menggunakan sampel yang sudah diekstraksi dari usapan bukal dan sel darah pada pada kasus maloklusi skeletal kelas I dan II. Amplifikasi sekuens DNA dilakukan dengan menggunakan PCR (Polymerase Chain Reaction). Analisis Polimorfisme Genetik gen Myosin 1H dan P561T dengan teknik RLFP (Restriction Fragment Length Polymorphism). Pearson Chi-Square dilakukan untuk menganalisis hubungan antara polimorfisme dan pengukuran kraniofasial pada gen Myosin 1H dan Fisher Exact Test untuk menganalisis hubungan antara polimorfisme dan pengukuran kraniofasial pada gen P561T. Hasil: Terdapat hubungan polimorfisme gen Myosin 1H dengan maloklusi skeletal kelas I, II dan III. Tidak terdapat hubungan polimorfisme gen P561T dengan maloklusi skeletal kelas I, II dan III. Kesimpulan: Polimorfisme gen Myosin 1H merupakan salah satu faktor resiko dari maloklusi kelas I, kelas II dan kelas III. Ekstraksi DNA dari folikel rambut memberikan hasil yang cukup baik dalam hal kualitas DNA dan cara pengambilan sampel yang relatif lebih mudah dibandingkan purifikasi sel darah dan usapan bukal. ......Objectives: To determine the relationship between polymorphisms of Myosin 1H and P561T genes and the growth and development of the mandible in Class I, II, and III malocclusion cases. Methods: Subjects were patients aged 17-45 years old with Class I, II, and III skeletal malocclusion cases who were undergoing and/ or would undergo orthodontic treatment at the orthodontic clinic at RSGM-FKG UI, namely 50 people with Class I skeletal malocclusion, 50 people with Class II skeletal malocclusion, and 50 people with Class III skeletal malocclusion. Class I skeletal malocclusion was used as control group. Class I, II and III malocclusion were determined based on radiographic analysis of the initial cephalometry using the Stainer method. DNA samples were extracted from buccal swabs and blood cells in Class I and II malocclusion while nail clippings and hair follicles extracts were used in Class III malocclusion. DNA sequence amplification was carried out using the PCR (Polymerase Chain Reaction), while Genetic Polymorphism Analysis of Myosin 1H and P561T genes was performed with RLFP (Restriction Fragment Length Polymorphism). Pearson Chi-Square was used to analyze the relationship between polymorphism and craniofacial measurements in the Myosin 1H gene, while the Fisher Exact Test was used to analyze the relationship between polymorphism and craniofacial measurements in the P561T gene. Results: There is a relationship between Myosin 1H gene polymorphism and Class I, II, and III skeletal malocclusion. There was no correlation between P561T gene polymorphism and Class I, II, and III skeletal malocclusion. Conclusions: Myosin 1H gene polymorphism is one of the risk factors for Class I, II, and III malocclusion. Extraction of DNA from hair follicles gave good results in terms of DNA quality and was a relatively easier sampling method compared to blood cell purification and buccal swabs.