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All Journal Majalah Kedokteran Bandung Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Althea Medical Journal Jurnal Farmasi Klinik Indonesia Indonesian Journal of Tropical and Infectious Disease Global Medical and Health Communication Universa Medicina Jurnal SOLMA Jurnal Kreativitas PKM Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia Public Health and Preventive Medicine Archive Jurnal Lintas Keperawatan Media Penelitian dan Pengembangan Kesehatan
Edhyana Sahiratmadja
Department of Biochemistry, Faculty of Medicine Universitas Padjadjaran, Bandung, Indonesia
Biochemistry, Genetics & Molecular Biology Decision Sciences, Operations Research & Management Dentistry Earth & Planetary Sciences Education Environmental Science Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing Public Health Other

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Increased knowledge of thalassemia promotes early carrier status examination among medical students Dewanto, Julius Broto; Tansah, Haryono; Dewi, Sari Puspa; Napitu, Helena; Panigoro, Ramdan; Sahiratmadja, Edhyana
Universa Medicina Vol 34, No 3 (2015)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2015.v34.220-228

Abstract

BACKGROUNDThalassemia is an autosomal recessive genetic disorder, in which the patient requires life-long blood transfusion. As Indonesia harbors 6 to 10% thalassemia carriers, thalassemia prevention measures such as early screening and education in the community are urgently needed. The aim of this study was to explore the knowledge, attitude and practice about thalassemia among young medical students. METHODSA cross-sectional analytic observational study was conducted on 179 subjects in 2015, using a questionnaire with items on knowledge, attitude and practice about thalassemia for data collection. After signing informed consent, the questionnaire was filled in by the students and a blood test was performed when the students agreed to be examined. Detection of probable thalassemia carrier status was done by determination of hemoglobin, mean corpuscular volume and mean corpuscular hemoglobin. RESULTSThe knowledge about thalassemia of the first year medical students (n=179) was good (21.1%), moderate (70.9%) and poor (21.1%). Only 67 (38.3%) of the students agreed to a blood examination for determination of their carrier status after filling-in the questionnaire. The knowledge of thalassemia among first year medical students was statistically related to the timing when they would agree to have their thalassemia carrier status examined (p=0.021, one way ANOVA test). CONCLUSIONA higher thalassemia knowledge score causes medical students to be willing to undergo thalassemia carrier status examination at an earlier point in timing. A well-organized educational program focusing on thalassemia and early screening in young adults may enhance the thalassemia prevention program.
Upper Lower Segment Ratio Comparison between Obese and Normal Children Aged 7 to 10 Years Old Azhar, Muhammad Zulfikar; Fadil, R.M. Ryadi; Sahiratmadja, Edhyana K.
Althea Medical Journal Vol 3, No 1 (2016)
Publisher : Althea Medical Journal

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Abstract

Background: Upper lower segment ratio is an anthropometric measurement that often used to detect the presence of abnormal growth. Growth is affected by many factor, one of them is nutrional status. Obesity prevalence in Indonesian children increases annually. These children show an accelerated growth in pre-puberty compared to normal children in their age. This study aimed to analyze the difference in upper lower segment ratio between obese and normal children aged 7 to 10 years old.Methods: A cross sectional study was carried out in children aged 7 to 10 years old in three Elemantary School in Bandung during September–October 2013. Height and weight were measured to calculate body mass index (BMI) score and were grouped into obese (BMI >95th percentile) and normal (BMI 10th–85th percentile). The upper lower segment ratio was compared between obese and normal children and the level of the significant difference were analyzed by unpaired T-test.Results: From a total of 200 children recruited, 90 were obese and 110 were normal. There was no significant difference between upper lower segment ratio in obese and normal children (p=0.603) with mean ratio 1.137 and 1.142 respectively. The mean of upper lower segment ratio in obese boys was higher than normal boys (mean ratio 1.15 and 1.14 respectively), but obese girls had a lower ratio compared to normal girls (mean ratio 1.12 and 1.14 respectively).Conclusions: There is no difference between upper lower segment ratio in obese and normal children aged 7 to 10 years old. [AMJ.2016;3(1):147–51] DOI: 10.15850/amj.v3n1.721
Paclitaxel-carboplatin chemotherapy induced hematologic toxicities among epithelial ovarian cancer patients Charles, Afandi; Dewayani, Birgitta M.; Sahiratmadja, Edhyana; Winarno, Gatot N.A.; Susanto, Herman
Universa Medicina Vol 35, No 3 (2016)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2016.v35.165-170

Abstract

BackgroundEpithelial ovarian cancer (EOC) is one of the most common cancers diagnosed in Indonesian women. A combination of paclitaxel and carboplatin is used to treat EOC as standard chemotherapy which is known to have hematologic toxicities. This study aimed to investigate the effect of combined paclitaxel-carboplatin chemotherapy on hematologic status in EOC patients managed at Dr. Hasan Sadikin General Hospital, Bandung, West Java.MethodsAll patients with confirmed pathological diagnosis of EOC at Dr. Hasan Sadikin General Hospital in the period of 2013 to 2014 were registered. Only patients with complete hematologic data before and after chemotherapy were collected and compared using the paired non-parametric Wilcoxon and McNemar tests. ResultsIn total there were 147 patients with EOC (median age 46 ± 12 years), with the most dominant pathological diagnosis of mucinous (32.7%) and serous (29.3%) types. Only 33 patients had hematologic data before the initiation of chemotherapy. There was a significant decrease after chemotherapy including hemoglobin level (12.0 vs 10.9 g/dL, p=0.013), erythrocyte count (4.53 vs 3.74 million/mL, p<0.001), leukocyte count (7,700 vs 4,000/mm3 p<0.001) and platelet count (343,000 vs 215,000/mm3, p<0.001). Interestingly, anemia cases after chemotherapy were predominant (87.9%) compared with erythopenia, leukopenia, thrombocytopenia i.e. 39.4%, 57.6%, and 27.3% respectively. ConclusionsThis study confirmed the hematologic toxicities after paclitaxel-carboplatin chemotherapy in EOC patients treated in Hasan Sadikin General Hospital, West Java. The hemoglobin concentration may serve as prognostic factor. Further studies directed to other factors such as genetic factor for polymorphisms may be encouraged to explore the decrease of the hematologic indices.
High ferritin in homozygous and heterozygous β-thalassemia tends to decrease oxidative stress levels Maskoen, Ani Melani; Reniarti, Lelani; Sumantri, Nur Imaniati; Sahiratmadja, Edhyana
Universa Medicina Vol 37, No 2 (2018)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2018.v37.97-104

Abstract

BackgroundIneffective erythropoiesis and multiple blood transfusions may cause iron overload, leading to high level of ferritin in β-thalassemia patients. Iron has the ability to catalyze the production of reactive oxygen species (ROS), which can be prevented by an adequate activity of superoxide dismutase (SOD) and glutathione peroxidase (GPx). The aim of this study was to explore the association between high ferritin levels and oxidative stress among β-thalassemia patients by measuring SOD and GPx levels. MethodsThis was a cross sectional study among β-thalassemia major patients. Ferritin, SOD, and GPx were measured and compared between β-thalassemia patients with homozygous IVS1nt5 and heterozygous IVS1nt5/HbE mutations, which were the most prevalent mutations found in our previous study. The Spearman correlation test was used to analyze the data. ResultsThe ferritin levels in all β-thalassemia major patients were very high (range: 791-12,340 µg/L). However, no significant differences were observed (p=0.318) between homozygous IVS1nt5 (n=45) compared to heterozygous IVS1nt5/HbE (n=13). The oxidative stress markers SOD and GPx were not significantly different between homozygous IVS1nt5 and heterozygous IVS1nt5/HbE (p=0.450 and p=0.323, respectively). The correlations between ferritin and SOD and GPx oxidative stress levels were not significant in both homozygous IVS1nt5 and heterozygous IVS1nt5/HbE mutations. ConclusionHigh ferritin levels in β-thalassemia patients tend to decrease the GPx level in all thalassemia patients and SOD level in half of the patients, indicating that GPx and SOD may play a role in the occurrence of oxidative stress among thalassemia patients. The mechanism of oxidative stress in thalassemia needs to be further explored.
Smoking habit as a risk factor in tuberculosis: a case-control study Sahiratmadja, Edhyana; Nagelkerke, Nico
Universa Medicina Vol 30, No 3 (2011)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (60.991 KB) | DOI: 10.18051/UnivMed.2011.v30.189-196

Abstract

Indonesia is fifth in the tuberculosis (TB) prevalence globally and this country is one of the largest tobacco producers. Smoking has been reported to be an important risk factor for TB and a reduction in smoking could be expected to have a significant impact on TB incidence and prevalence. However, studies from various countries yielded conflicting results. Our study aims to explore the association between smoking and TB in Indonesia as TB-endemic country. In two major cities of Indonesia, Jakarta and Bandung, a case-control study had been conducted. TB was diagnosed based on WHO criteria including clinical presentation, and chest X-ray (CXR) examination, and confirmed by microscopic detection of acid-fast bacilli in Ziehl-Nielsen stained sputum smears or by culture of M. tuberculosis. Newly diagnosed smear-positive pulmonary TB patients (n=802) and their spouses (n=253) or sex-matched neighborhood controls (n=534) were interviewed about their smoking habits. An extensive questionnaire was used to collect data about smoking habits of both patients and controls. Smoking categories were grouped into ever (for current/past smokers) and never. Our study result showed that smoking appears not to be strongly associated with TB (OR=0.99, 95% CI 0.76-1.31). The reasons for the effect heterogeneity remain to be elucidated as smoking is a lethal habit and should be well controlled. The need to incorporate tobacco cessation programs into TB treatment is strongly recommended to improve TB control.
Loop-Mediated Isothermal Amplification untuk Mendeteksi Gen blaTEM sebagai Penyandi Extended-Spectrum Beta-Lactamase pada Isolat Enterobacteriaceae Wilopo, Bayu A. P.; Sudigdoadi, Sunarjati; Sahiratmadja, Edhyana; Dewi, Intan M. W.
Majalah Kedokteran Bandung Vol 47, No 4 (2015)
Publisher : Faculty of Medicine, Universitas Padjadjaran

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Abstract

Extended-spectrum beta-lactamase (ESBL) adalah suatu jenis enzim beta-laktamase yang mampu menghidrolisis penisilin, sefalosprin, dan monobaktam yang dapat dihambat oleh asam klavulanat. Enzim ini disandi oleh banyak gen, salah satunya adalah blaTEM. Untuk  mengamplifikasi gen blaTEM  selain digunakan metode polymerase chain reaction (PCR) dapat pula dilakukan metode loop-mediated isothermal amplification (LAMP) yang membutuhkan peralatan lebih sederhana dengan prosedur yang cepat dan pembacaan hasil yang  lebih mudah. Penelitian ini merupakan uji diagnostik yang bertujuan menilai sensitivitas dan spesifisitas metode LAMP serta melihat kesesuaian hasil antara metode LAMP dan metode PCR dalam mendeteksi gen blaTEM. Sebanyak 92 isolat Enterobacteriaceae diperiksa dengan metode PCR yang kemudian dibandingkan dengan metode LAMP. Didapatkan bahwa metode LAMP memiliki sensitivitas 91,4% dan spesifisitas 91,2%, serta nilai kesesuaian (kappa) sebesar 85,4%. Sebagai simpulan, metode LAMP memiliki validitas yang baik dan kesesuaian yang sangat baik dibanding dengan metode PCR. Oleh karena itu, metode LAMP dapat dijadikan pemeriksaan alternatif dalam mendeteksi gen blaTEM terutama di daerah dengan infrastruktur laboratorium terbatas.Kata kunci:  blaTEM, Enterobacteriaceae, ESBL, LAMP, PCR  Loop-Mediated Isothermal Amplification for Detecting blaTEM Gene that Encodes Extended-Spectrum Beta-Lactamase in Enterobacteriaceae IsolatesAbstractExtended-spectrum beta-lactamase (ESBL) is a beta-lactamase enzyme that is capable of hydrolyzing penicillin, cephalosporin, and monobactam, and can be inhibited by clavulanic acid. This enzyme is encoded by multiple genes, one of them is blaTEM. Polymerase chain reaction (PCR) is one of the DNA amplification methods that are frequently used; however, there are other methods that can be used including, among others, loop-mediated isothermal amplification (LAMP). LAMP requires simple equipment with quicker and easy-to-read results compared to PCR. This study was a diagnostic test to explore the sensitivity and specificity of LAMP method compared to PCR in detecting blaTEM gene. Furthermore, the concordance between LAMP and PCR methods was assessed. A total of 92 Enterobacteriaceae isolates were examined by PCR and LAMP methods and compared. The result showed that the LAMP method had a sensitivity of 91.4% and a specificity of 91.2% with a concordance value (kappa) of 85.4%. In conclusion, LAMP method has a good validity and a very good conformity compared to the PCR method. Therefore, LAMP method can be used as an alternative diagnostic test, especially in limited settings. [MKB. 2015;47(4):242–9]Key words: blaTEM, Enterobacteriaceae, ESBL, LAMP, PCR DOI: 10.15395/mkb.v47n4.618
Analisis Filogenetik Gen L1 Human Papillomavirus 16 pada Penderita Kanker Serviks di Bandung Fadhilah, Fitri Rahmi; Sahiratmadja, Edhyana K.; Safitri, Ratu; Maskoen, Ani Melani; Susanto, Herman
Majalah Kedokteran Bandung Vol 47, No 3 (2015)
Publisher : Faculty of Medicine, Universitas Padjadjaran

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Abstract

Infeksi human papillomavirus (HPV) tipe high risk (hr) yang kronik dapat menyebabkan kanker serviks. Berbagai genotipe hrHPV telah teridentifikasi dan HPV-16 merupakan genotipe yang tersering menginfeksi serviks. Fragmen L1 HPV dapat digunakan untuk mengidentifikasikan asal usul HPV. Tujuan penelitian ini adalah mengeksplorasi asal usul HPV-16 dengan membuat pohon filogenetik. Metode penelitian yang digunakan adalah metode deskriptif analisis. Penelitian dilakukan di Laboratorium Genetika Molekuler Unit Penelitian Kesehatan, Fakultas Kedokteran Universitas Padjadjaran Bandung pada Februari hingga Agustus 2013. Isolat biopsi dari pasien kanker serviks disumbangkan oleh Departemen Kebidanan Fakultas Kedokteran Universitas Padjadjaran, Bandung. Isolasi DNA dibuat dari biopsi jaringan kanker serviks dan fragmen L1 diamplifikasi dengan desain primer sendiri. Infeksi dengan HPV-16 dikonfirmasi dengan Linear Array test (Roche). Sekuens urutan basa kemudian dimasukkan dalam program filogenetik (MEGA5). Hasil konstruksi menunjukkan isolat pasien kanker serviks dari Bandung berada dalam satu subgrup dengan HPV asal Asia dan Asia Timur. Simpulan, cluster HPV Indonesia berada pada galur Asia dan Asia Timur. [MKB. 2015;47(3):174–78]Kata kunci: Filogenetik, fragmen L1,  human papillomavirus 16 (HPV-16)Phylogenetic Analysis of Human Papillomavirus 16 L1 Gene from Cervical Cancer Patient in BandungAbstractChronic infection with high-risk (hr) human papillomavirus (HPV) can lead to cervical cancer. Various hrHPV genotypes have been identified and HPV genotype 16 is the most common genotypes that infect cervical cancer. HPV L1 fragment can identify the origin of HPV. The purpose of this study was to explore the origins of HPV-16 by making a phylogenetic tree. This study used analytical descriptive method and was  was conducted at the Laboratory of Molecular Genetics, Health Research Unit, Faculty of Medicine, Universitas Padjadjaran Bandung in the period of February to August 2013. Biopsy from cervical cancer patient was donated by the Department of Obstetrics, Faculty of Medicine, Universitas Padjadjaran, Bandung. Isolation of DNA was prepared from tissue biopsies of cervical cancer and L1 fragment was amplified with the specific primer. Infection with HPV-16 was confirmed by Linear Array test (Roche) design. The sequence then was constructed using the phylogenetic program (MEGA5). Results showed that the isolate from patient with cervical cancer from Bandung was in one subgroup with HPV from Asia and East Asia. In conclusion, cluster HPV of Bandung is in the same strain as the strain in Asia and East Asia. [MKB. 2015;47(3):174–78]Key words: Human papillomavirus 16 (HPV-16), L1 fragment, phylogenetic DOI: 10.15395/mkb.v47n3.598
Sekuens Gen Protein Kapsid Mayor L1 Human Papilomavirus 16 dari Isolat Klinik Asal Bandung Pradita, Anandayu; Sahiratmadja, Edhyana; Suhandono, Sony; Susanto, Herman
Majalah Kedokteran Bandung Vol 46, No 3 (2014)
Publisher : Faculty of Medicine, Universitas Padjadjaran

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Abstract

Kanker serviks disebabkan oleh infeksi kronik human papillomavirus (HPV) dengan genotipe HPV-16 sebagai HPV tersering yang menginfeksi epitel serviks. Protein penyelubung virus yang disebut kapsid mayor (L1) mempunyai peranan penting dalam menginfeksi epitel serviks. Tujuan penelitian untuk mengisolasi dan menganalisis sekuens gen L1 HPV-16. Pengetahuan mengenai sekuens gen L1 dapat memberikan informasi yang berguna, salah satunya yaitu untuk pengembangan vaksin. Pada studi ini, deoxyribonucleic acid (DNA) virus diekstraksi dari sediaan biopsi pasien kanker serviks yang diambil pada bulan Juni sampai Oktober 2010 di Kebidanan dan Kandungan RS Dr. Hasan Sadikin Bandung. Gen diamplifikasi dengan polymerase chain reaction menggunakan primer spesifik. Infeksi HPV-16 pada jaringan kanker dikonfirmasi dengan menggunakan kit komersial untuk tes genotipe HPV. Fragmen L1 kemudian diklon dan diinsersikan ke dalam pJET1.2/L1-16, kemudian dipotong dengan enzim BamHI dan BgIII untuk kemudian divalidasi dan disekuensing. Hasil sekuensing menunjukkan amplikon gen L1 HPV-16 sebesar 1.595 pasang basa. Analisis dari dua amplikon gen L1 HPV-16 menggunakan software BIOEDIT dan Basic Local Alignment Search Tool menunjukkan kesamaan ho mologi 99% dan 97% dengan sekuens L1 HPV-16 asal Thailand yang terregistrasi pada GenBank. Simpulan, telah dilakukan kloning sekuens gen L1 HPV-16 dari dua isolat klinik Bandung. Hasil kloning HPV-16 pada penelitian ini memberikan informasi tentang variasi sekuens yang perlu dipertimbangkan bagi pengembangan vaksin terutama bagi daerah spesifik seperti penduduk asal Indonesia.Kata kunci: Human papillomavirus, kanker serviks, gen L1 HPV-16 Sequence of Human Papilomavirus 16 Major Capsid L1 Gene from Clinical Isolates in BandungCervical cancer is strongly associated with chronic human papillomavirus (HPV) infection. HPV-16 is the most prevalent genotype infecting cervical epithelium. The major coat protein of viral particle (L1) plays a key role in the infection process. Our study aimed to isolate the HPV-16 L1 gene and analyze its sequence. Samples used were samples collected from the Department of Obstetrics and Gynaecology, Dr. Hasan Sadikin General Hospital, Bandung during the period of June to October 2010. In this study, the HPV-16 L1 sequence was analyzed from the viral deoxyribonucleic acid (DNA) extracted from biopsy sample of cervical cancer patient biopsy samples.The HPV-16 L1 amplification was performed using the polymerase chain reaction with specific primer. The HPV infection in the cervical tissue was confirmed by commercial HPV genotyping test. The L1 fragment was cloned into plasmid and the insert of the recombinant clone pJET1.2/L1-16 was digested using BamHI and BgIII. The amplicon result showed HPV-16 L1 gene with a length of 1.595 base pairs. The sequence analysis of two samples using software BIOEDIT dan Basic Local Alignment Search Tool revealed a high level of sequence similarity to L1 HPV-16 from Thailand (99% and 97%) as registered in GenBank. In conclusion, the L1 HPV-16 gene from Bandung isolates revealed variations from published sequence. Knowledge on L1 gene sequence may give additional information to the development of vaccine. Further study on vaccine development is currently ongoing using this HPV-16 clone that may be specific to Indonesian population. Key words: Cervical cancer, human papillomavirus, L1 HPV-16 DOI: 10.15395/mkb.v46n3.317
Status Asetilator Gen NAT2 pada Pasien Tuberkulosis dan Tuberkulosis dengan Diabetes Melitus di Kupang, Nusa Tenggara Timur Pramono, Alvinsyah Adhityo; Penggoam, Simeon; Sahiratmadja, Edhyana; Utami, Novi Vicahyani; Achmad, Tri Hanggono; Panigoro, Ramdan
Majalah Kedokteran Bandung Vol 49, No 1 (2017)
Publisher : Faculty of Medicine, Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (588.875 KB) | DOI: 10.15395/mkb.v49n1.989

Abstract

Indonesia adalah negara dengan jumlah penderita tuberkulosis (TB) terbanyak kedua  di dunia. Diabetes melitus (DM) merupakan salah satu komorbid TB. Arylamine N-acetyltransferase 2 (NAT2) adalah enzim yang berfungsi memetabolisir isoniazid (INH) yang disandi oleh gen NAT2. Gen NAT2 memiliki sejumlah polimorfisme dan dapat menentukan kemampuan seseorang untuk memetabolisir obat yang disebut status asetilator. Pada individu dengan status asetilator lambat, INH dimetabolisir dengan lambat sehingga memungkinkan terjadi intoksikasi hati. Pada TB dengan DM (TBDM) status asetilator lambat dapat membuat pengobatan TB maupun DM menjadi kurang optimal. Penelitian ini bertujuan mengeksplorasi status asetilator pasien TBDM di RSUD Prof. WZ Johannes Kupang periode Juni–November 2011. Pada penelitian potong lintang ini DNA dari darah 122 pasien TB diisolasi dan gen NAT2 kemudian diamplifikasi dan disekuensing untuk diketahui status asetilatornya. Hasil penelitian menunjukkan terdapat 5 pasien yang memiliki glukosa serum >200 mg/dL yang dikategorikan sebagai pasien TBDM. Pada pasien TBDM didapatkan seorang dengan status asetilator cepat (NAT2*4/NAT2*4), 2 orang dengan status asetilator sedang (NAT2*13A/NAT2*6J), dan 2 orang dengan status asetilator lambat (NAT2*5/NAT2*5G, NAT2*6A/ NAT2*6A, NAT2*7B/ NAT2*7B). Pada pasien TB yang dipilih secara random berdasar usia dan jenis kelamin serupa dengan TBDM didapatkan 2 orang dengan status asetilator cepat (NAT2*4/NAT2*4) dan 3 orang dengan asetilator sedang (NAT2*4/NAT2*6A, NAT2*13A/NAT2*6J). TBDM yang memiliki status asetilator lambat berpotensi memiliki masalah ganda dalam terapi, selain dapat terjadi toksisitas hati akibat terapi dengan INH, juga dapat mengakibatkan pengobatan DM menjadi tidak optimal. Perlu dilakukan peneltian lebih lanjut terkait farmakogenetik pada TBDM. [MKB. 2016;49(1):61–6]Kata kunci: Asetilator, isoniazid, NAT2, farmakogenetik, tuberkulosis NAT2 Gene Acetylator Status of Tuberculosis and Tuberculosis with Diabetes Mellitus Patients in Kupang, Nusa Tenggara TimurIndonesia is the second highest country with TB patients in the world. Diabetes mellitus (DM) is a comorbid of TB. Arylamine N-acetyltransferase 2 (NAT2), encoded by the NAT2 gene, is an enzyme that metabolizes isoniazid (INH). NAT2 gene has some polimorphysims that may play a role in INH acetylating process. Those who are slow acetylators may develop liver intoxication as a consequence of slow INH metabolism process. Slow acetylator TBDM patients may complicate both TB and DM treatment, causing them to be less optimal. The aim of this study was to explore the acetylator status of TBDM patients in Kupang, Indonesia. A cross-sectional study was conducted by obtaining DNA of 122 TB patients in Kupang in June–November 2011. NAT2 gene was amplified and sequenced to determine the acetylator status. There were 5 TB patients who had a glucose serum level of >200mg/dL and was catagorized as TBDM. Result showed that there was 1 TBDM patient who was a rapid acetylator (NAT2*4/NAT2*4), 2 patients as intermediate acetylators (NAT2*13A/NAT2*6J), and 2 patients as slow acetylators (NAT2*5/NAT2*5G, NAT2*6A/ NAT2*6A, NAT2*7B/ NAT2*7B). Meanwhile,  there were 2 TB patients who was rapid acetylators (NAT2*4/NAT2*4) and 3 patients as intermediate acetylators (NAT2*4/NAT2*6A, NAT2*13A/NAT2*6J). Slow NAT2 acetylator TBDM patients potentially face more problems during therapy. As INH may cause liver intoxication, these patients may also experience unoptimum DM treatment. Therefore, it is strongly recommended to do a study on the role of pharmacogenomics in TBDM. [MKB. 2016;49(1):61–6]Key words: Acetylator, isoniazid, NAT2, pharmacogenetics, tuberculosis
Methylenetetrahydrofolate Reductase C677T Distribution among Cervical Cancer Patients at Dr. Hasan Sadikin General Hospital Maskoen, Ani Melani; Kurniawan, Cynthia; Susanto, Herman; Sahiratmadja, Edhyana
Majalah Kedokteran Bandung Vol 48, No 4 (2016)
Publisher : Faculty of Medicine, Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (207.831 KB) | DOI: 10.15395/mkb.v48n4.754

Abstract

Cervical cancer is the second most common cancer among women in the world. Persistent infection with high risk human papillomavirus (HPV) is one of the necessary causes of cervical cancer development. However, host genetic factors may also play a role in cervical cancer carcinogenesis. Methylenetetrahydrofolate reductase enzyme, encoded by the MTHFR gene, regulates folate metabolism which is important for genetic expression and stability. Single nucleotide polymorphism (SNP) C677T in MTHFR gene may produce a thermo-labile enzyme, resulting in a reduced enzyme activity. The aim of this study was to explore the SNP C677T of MTHFR gene and the susceptibility to cervical cancer among cancer patients visiting Dr. Hasan Sadikin General Hospital, Bandung, Indonesia. This descriptive quantitative study involved cervical cancer patients recruited in 2010 and their control group. Genomic DNA was extracted from patients’ blood. MTHFR C677T genotype was performed using BeadXpress Reader Illumina® and some samples were re-genotyped for confirmation using conventional PCR-RFLP. The distribution of MTHFR C677T genotype in cervical cancer patients was 71.6%, 25.4%, and 3%, and 44%, 36%, and 20% in control group for CC, CT, and TT, respectively. This yielded a statistical significant difference of CC vs CT+TT (p 0.014 with OR 3.22 and CI 95% 1.24 – 8.33). Taken together, this result indicates that T allele has a protective effect against cervical cancer development. Further studies to confirm this effect in bigger population is warranted. [MKB. 2016;48(4):216–21]Key words: Cervical cancer, MTHFR C677T, polymorphism, Bandung Distribusi C677T gen Methylenetetrahydrofolate Reductase pada Pasien Kanker Serviks di Rumah Sakit Dr. Hasan Sadikin BandungKanker serviks menduduki peringkat kedua sebagai kanker yang paling sering ditemukan pada wanita di dunia. Infeksi persisten oleh human papillomavirus (HPV) tipe risiko tinggi merupakan salah satu penyebab utama kanker serviks. Selain itu, factor genetic juga turut berperan dalam proses perkembangan kanker serviks. Enzim methylenetetrahydrofolate reductase yang disandi oleh gen MTHFR berfungsi meregulasi metabolism folat. Polimorfisme C677T pada gen MTHFR dapat membuat produksi enzim menjadi termolabil sehingga terjadi penurunan aktivitas. Distribusi folat yang abnormal dapat mengganggu proses metilasi, sintesis, dan perbaikan DNA yang dikaitkan dengan perkembangan kanker serviks. Tujuan penelitian ini adalah mengetahui distribusi polimorfisme C677T gen MTHFR pada pasien kanker serviks di Rumah Sakit Umum Dr. Hasan Sadikin Bandung, Indonesia. Penelitian deskriptif kuantitatif ini melibatkan pasien kanker serviks yang diinklusi tahun 2010 dan sebagai control adalah wanita yang datang untuk pemeriksaan PAPsmear. DNA genomic diisolasi dari darah pasien dan dihibridisasi dengan menggunakan system BeadXpress Reader Illumina® untuk menentukan jenis genotipenya. Genotipe beberapa sampel dikonfirmasi dengan metode PCR-RFLP. Hasil distribusi polimorfisme C677T gen MTHFR dengan genotipe CC, CT, dan TT pada pasien kanker serviks adalah 71,6%, 25,4%, dan 3% dan pada kontrol adalah 44%, 36%, and 20%. Hasil ini menunjukkan perbedaan yang signifikan antara pasien kanker serviks dan kontrolnya, dengan genotipe CC vs CT+TT menunjukkan nilai p=0,014 (OR 3.22 dan IK 95% 1,24–8,33). Simpulan, alel T menunjukkan efek yang protektif pada perkembangan kanker serviks. Penelitian harus dilanjutkan untuk membuktikan efek protektif alel pada kanker serviks.[MKB. 2016;48(4):216–21]Kata kunci: Kanker serviks, MTHFR C677T, polimorfisme, Bandung
Co-Authors A, Muhammad Naufal Afandi Charles, Afandi Afifah, Nadya Nurul Aini, Intan Nur Akhmad Yogi Pramatirta, Akhmad Yogi Alfi, Mohammad Abyan Anandayu Pradita Anggraini Widjajakusuma, Anggraini Ani Melani Ani Melani Maskoen Ari indra Susanti Astuti, Intan Widya Aulia Bramantyo Azzahra, Fadhilla Zakya Bayu A. P. Wilopo, Bayu A. P. Bethy Suryawathy Hernowo Birgitta M. Dewayani, Birgitta M. Cynthia Kurniawan Dewantoro, Julius Broto Dewi, Vycke Yunivita Dhestina, Winnery Elsa Pudji Setiawati Elvina Karyadi Fadillah, Viki Faliq, Muhammad Faza Fitri Rahmi Fadhilah Gatot N.A. Winarno Gisrianti, Reina Syafira Gisrianti,, Reina Syafira Haryono Tansah, Haryono Helena Napitu, Helena Hendraswari, Chatrine Aprilia Herman Susanto Hudaya, Syahra Ramadhani Ikhwanuliman Putera Ikrar Syahmar Intan M. W. Dewi, Intan M. W. Jaya, Fidi Bhawana Julius Broto Dewanto, Julius Broto Kennardi, Gabriel Bagus Laniyati Hamijoyo, Laniyati Lelani Reniarti Lestari, Frida Dwi Maharani, Khalista Ismaya Mas Rizky A.A. Syamsunarno Melisa Intan Barliana, Melisa Intan Mugia Bayu Rahardja Mugia Bayu Raharja Muhammad Zulfikar Azhar, Muhammad Zulfikar Nabilah, Kayla Shafa Nagelkerke, Nico Ndaha Wungo, Sydney Immanuella Puteri Novi Vicahyani Utami Penggoam, Simeon Permatasari, Lany Indah Pramono, Alvinsyah Adhityo Pratama, Muhammad Syawal Prayudi Santoso Putra Sit, Ari Dwi Putri, Rahmania Devina R.M. Ryadi Fadil, R.M. Ryadi Rachmawati, Anita Ramdan Panigoro Ratu Safitri Rokhimawaty, Afita Ruswana Anwar Salsabila, Fathiyyah Samandari, Aquila Mozaffar Sari Puspa Dewi Shadrina, Siti Azyyati Nur SONY SUHANDONO Sulistiyorini, Ifa Sumantri, Nur Imaniati Sunarjati Sudigdoadi Surbakti, Indra Murty Tear, Alveron Andreas Tiyanto, Rizqi Deva Trevino A. Pakasi Tri Hanggono Achmad Viansih, Helsy Murtry Vita Murniati Tarawan Wijaya, Michelle Angelica Yuliasti Eka Purnamaningrum