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Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Published by Universitas Gadjah Mada

ISSN : 01261312 EISSN : 23563931 DOI : http://dx.doi.org/10.19106/JMedSci005303202101

Core Subject : Science,

Immunology & microbiology Neuroscience

Journal of the Medical Sciences (JMedSci) or Berkala Ilmu Kedokteran (BIK) is an international, open-access, and double-blind peer-reviewed journal, published by Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada Yogyakarta Indonesia. JMedSci aiming to communicate high-quality articles in the areas of biomedical science from basic to clinical sciences.The journal welcomes papers from original articles, case reports, reviews, and book reviews. All papers published in JMedSci are freely available as downloadable pdf files. The journal began its publication on March 1973 and published quarterly (January, April, July, and October). JMedSci is abstracted and indexed in DOAJ, Crossref, Google Scholar, Sinta, Indonesia One Search. JMedSci is accredited by Directorate of General Higher Education, the Ministry of Research, Technology, and Higher Education, Indonesia

Arjuna Subject : Kedokteran - Kedokteran (Lain-Lain)

Articles 2,170 Documents

168 169 170 171 172

DNA methylation and expression of Homeobox gene family as diagnostic and prognostic markers in human hepatocellular carcinoma Sumadi Lukman Anwar; Ulrich Lehmann
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 48, No 4 (2016): SUPPLEMENT
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

ABSTRACTHomeobox genes consist of a family of evolutionarily conserved genes that play important roles in morphogenesis, embryogenesis, and cell fate determination. Re-expression of embryogenic genes has been associated with carcinogenesis of human cancers. Aberrant expression of homeobox genes has been increasingly found to modulate diverse processes such as cell proliferation, cell death, metastasis, angiogenesis and DNA repair. We studied DNA methylation and expression of homeobox gene family in human hepatocellular carcinoma (HCC), the fifth most common cancer and the third leading cause of cancer mortality worldwide. We performed microarray for comprehensive DNA methylation and gene expression using primary HCC samples and healthy liver tissues. Confirmation using pyrosequencing and RT-PCR was then performed. Clustering both unsupervised and supervised methods using Qlucore software was then performed. Enrichment of homeobox genes both for DNA methylation and gene expression could differentiate HCC and the healthy liver tissues. Profile of homeobox gene methylation could further predict clinical outcome. Inverse correlation between DNA methylation and gene expression was shown (HOXA9, Spearman r=-0.49, p=0.002). Gain of DNA methylation in HOXA9, HOXA13, and MEOX1 correlated with shorter HCC survival (log-rank Mantel-Cox test p=0.02, with median survival 50 and 490 weeks, respectively). We demonstrated potential roles of DNA methylation and gene expression profiles of Homeobox gene family as diagnostic and prognostic marker in patients with HCC.

R-Peaks Detection Method for Classifying Arrhythmia Disorder Anggit Ferdita Nugraha; Brahmantya Aji Pramudita; Noor Akhmad Setiawan; Hanung Adi Nugroho
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 49, No 4 (2017)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Electrocardiography (ECG) is a non-invasive technique that is used to diagnose heartabnormalities. ECG records all heart activities and represent them using bio electricsignals. Arrhythmia is one of the cardiac disorder that can be detected using ECG.Arrhythmia need to be detected early because of an early symptom of heart diseaseas deadly as coronary heart disease and heart failure. Arrhythmia described using thedifference between the R-peaks based on QRS complex. Therefore, R-peaks detection willbe an important factor that can be used to classify arrhythmia disease. One of the widelyused methods to detect R-peaks is Pan-Tompkins method. Pan-Tompkins method used athreshold value approach to get all location of R-peaks point from the ECG signals. Thisstudy proposed a development based on Pan-Tompkins method by change the thresholdvalue using normalize technique and moving windows approach to get all location ofR-peaks point from the ECG signals. This study uses MIT-BIH arrhythmia dataset. Thismethod can show the R-peaks detection with 99.83% sensitivity and 0.40% total errorrate detection. Hence, this method has potential to be used for classifying arrhythmiadisorder based on the R-peaks point.

Risk Factors for Acute Otitis Media in Children at Dr.Soedono Hospital Jeem Yaltafit Abror; Andriani Russy Novita; Suwondo Slamet
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 50, No 1 (2018): SUPPLEMENT
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Acute otitis media (OMA) was the most common ear infection in children. Because of Tuba Eustachius was not developed yet, shorter and flatter / horizontal in children so the secretions of nasopharynx were easier to enter the middle ear. OMA can cause many complications such as subperiosteal abscess to severe complications like meningitis and brain abscess. Epidemiological studies of OMA in developing countries were still rare. The prevalence of OMA was different in many country, ranging from 2.3 - 20%. The result of study showed that the prevalence of OMA in children in East Jakarta was 5.38%, and the highest prevalence was on group among 2-5 years old. 179 patients analyzed were 50.8% male and 49.2% female. The mean age of this study subjects was 4.75 years (SD 4.54). 31.3% were diagnosed with OMA. There was no difference in the location of the OMA occurrence between the right and left ear. There was a significant correlation between age factor and the incidence of OMA (p = 0.014) and subjects which under 5 years of old became a risk factor for OMA. The results also showed that there was a correlation between treatment and the incidence of OMA (p = 0.000), ARI patients without treatment was being a risk factor for the incidence of OMA in children. There was no correlation between sex, type factor and health insurance against the occurrence of OMA.

Correlation of methylation of toll-like receptor 4 (TLR4) and interleukin-6 (IL6) promoter with insulin resistance in obese adolescents Ratih Feraritra Danu Atmaja; Dian Caturini Sulistyonigrum; Emy Huriyati; Ahmad Hamim Sadewa; Rina Susilowati
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 48, No 1 (2016)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Chronic inflammation can lead to insulin resistance in obesity. Increased mRNA expressionof inflammatory markers such as toll-like receptor 4 (TLR4) and interleukin 6 (IL6) werereported both in the tissue and the peripheral blood of obese adolescent and correlatedwith insulin resistance. DNA methylation surrounding TSS region is known to regulate thelevel of a gene expression. The aim of the study was to investigate the methylation statusof TLR4 and IL6 promoter in peripheral blood of obese adolescent and its correlation toinsulin resistance. This was a cross sectional study with observational analytic approached.Fifty adolescents with obesity from Yogyakarta Special Region, aged 15-18 years,z-score value >2 SD, no experience of any acute infections within 2 weeks and signed ininformed consent, were selected in this study. Subjects with diabetic mellitus, incompletedata and DNA concentration of <20 μg/mL were excluded. DNA samples were extractedfrom peripheral blood of the subjects. The bisulfite converted DNA was analyzed formethylation level with direct sequencing. Correlation analysis using Spearman test wasperformed with significance value was set at p<0.05. No methylation in TLR4 promoterwas detected in all subjects. The methylation level of IL6 was transformed to categoricalvariable. Four (8%) subjects with insulin resistance and 2 (4%) without insulin resistancehad methylation on a CpG site. Methylation of IL6 was not statisticaly different betweeninsulin resistance and non-resistance adolescent (p=0.635). The significant correlationwas not found between methylation level in IL6 promoter with insulin resistance (HOMAIR)(r=0.051). Cell specific of methylation mechanism, characteristic of subjects andtypes of samples were suspected causing those results. In conclusion, no correlationbetween methylation levels of TLR4 promoter and IL6 with insulin resistance in obeseadolescent was observed in this study.

The role of Clinical Geneticists in Hereditary Cancer Management and Research Hanne Meijers Heijboer
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 48, No 4 (2016): SUPPLEMENT
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

AbstractHereditary cancer refers to cancers caused by germline mutations in cancer predisposing genes. These mutations confer a significantly increased risk of cancer, are rare, and are in the majority of cases autosomal dominantly inherited. Since the eighties of last century more than 115 cancer predisposing genes have been identified. In many Western countries genetic testing of patients and families with clustering of cancers started early, and was often performed by clinical geneticists (MDs performed the counselling and pedigree analyses) and by molecular biologists (in laboratories within departments of clinical genetics). It turned out to be a long path to fully realize the promise of cancer predisposing genes. The clinical utility of many cancer genetic tests and subsequent risk reducing interventions has not yet been validated and pitfalls in e.g. misinterpretation of genetic variants showed up. However, without doubt genetic testing for mutations will eventually turn out as a strong tool to save lives from early cancer death and will become part of standard cancer care throughout the developed world. Apart from primary surgical prevention, major progress is to be expected in earlier diagnoses, tailored therapies, and possibly chemoprevention. Ideally researchers, clinical geneticists, molecular biologists, surgeons, oncologists, gynaecologists and other professionals will work together to reach this goal.

Plasma DNA as a potential biomarker for breast cancer detection Dewajani Purnomosari; Ulfah Dian Indrayani; . Irianiwati; Dian Caturini Sulistyoningrum
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 48, No 4 (2016)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Breast cancer is a major malignancy among Indonesian women. It is often diagnosed inthe later stages of cancer, which leads to poor prognosis and survival of the patients.This study investigated plasma DNA concentration as a potential biomarker for breastcancer. The benefit of using this detection is the cost-effectiveness and the samples canbe collected from patients using non-invasive methods. Plasma samples were obtainedfrom healthy controls (n=18) and cancer patients (n=22). Each sample was split intotwo equal portions for DNA isolation using two different methods for the NaI methodand a commercially available kit (Qiagen/ QA) method. The DNA concentration wasdetermined by using a GeneQuant spectrophotometer (Pharmacia). The t-test was usedfor statistical analysis, which was performed using the SPSS 17.0 software. Compared tothe commercial method, extraction using NaI yielded higher DNA concentration, both fromsamples of healthy controls and cancer patients (p=0,008 and p=0.000, respectively).Furthermore, regardless of the isolation method used, the plasma DNA concentrationwas higher in healthy controls than in cancer cases (p=0,032 and p=0.005, for NaIand QA methods, respectively). In conclusion, isolation methods significantly affect DNAconcentrations. The plasma DNA concentration of healthy controls is significantly higherthan those of the cancer cases, suggesting that plasma DNA concentration might be apotential biomarker for breast cancer detection with less invasive sampling method thantissue biopsies.

Child tuberculosis in Respira Lung Hospital, Yogyakarta: demographic and clinical profiles Stefani Candra Firmanti; Rina Triasih
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 50, No 1 (2018): SUPPLEMENT
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Tuberculosis (TB) remains a significant source of morbidity and mortality among children in endemic settings. Demografic and clinical profiles of children with TB in Yogyakarta have not been well documented. A total of 80 children with TB were diagnosed with TB during the study period. There were 41 (51.2%) females and 39 (48.8%) males. The case findings of child TB cases has been increasing from 20 cases in 2014, 28 cases in 2015, and 32 cases in 2016. The majority of the children (89.3%) aged less than 5 years. The most common symptoms were cough 50 (62.5%), followed by weight loss 45 (56.3%), and fever 28 (35%). Contact with a TB case was identified in 46 (57.5%) children. Mantoux test was done in 76 (95%) children with positive result documented in 61(76.3%) children. Chest X-ray was done in 54 (67.5%) children, of which 52 (65%) chest X- rays showed suggestive of TB. Confirmed diagnosis (bacteriology) was only documented in one child (1.25%).

High Resolution Melting (HRM) Analysis for Genetic Changes in BRCA1/2 gene Samuel J Haryono; I Gusti Bagus Datasena; Ariananda Hariadi; Raymond Mulyarahardj
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 48, No 4 (2016): SUPPLEMENT
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Conventional mutation analysis requires a separation step and include single-strand conformational polymorphism (SSCP) analysis, denaturing gradient gel electrophoresis, heteroduplex analysis, denaturing HPLC, and temperature gradient capillary electrophoresis These methods require separation of PCR products on a gel or other matrix, often take hours to perform, and increase the risk of contamination in future reactions because PCR products are exposed to the environment. High Resolution Melting (HRM) can simplify the mutation scanning analysis in BRCA 1/2 gene. DNA from affected patients and family members were amplified with Real-Time PCR reaction and followed by Sanger Sequencing to reconfirm the mutation status if mutation obtained by HRM Method. HRM Method was able to show distinction in differential curves of mutated BRCA 2 gene c.4600T>C, with codon modification of CAT>TAT, when compared to wildtype. To determine point mutation in a sample, this method requires two groups of experimental standards and standard curves. The first standard produced by using samples without mutation (wildtype/negative control) and the second standard produced by using samples with mutation (positive control), that have been confirmed with Sanger Sequencing. The sequencing analysis of the affected patient and the family members showed that a mutation occurred (BRCA2 c.4600T>C) and was segregated in the family history. This mutation caused amino acid alteration in BRCA2 protein (p.H1458Y). HRM Method is an excellent tool to analyze genetic modification of BRCA1/2 genes, especially to investigate co-segregation of mutated genes among family members of affected patient. This method can provide more sensitive results to determine mutation in patient, before using Sanger Sequencing analysis.Keyword: BRCA, HRM, Gene Mutation

The Impact of Malaria in Pregnancy on Infant Susceptibility to Malaria Infection Ratni Indrawanti; Mahardika Wijayanti; Mochamad Hakimi; Mohammad Juffrie; Enny Kenangalem; Faustina Helena Burdam; Leily Triyanti; Rintis Noviyanti; Din Syafruddin; Rukhsana Ahmed; Feiko ter Kuile; Jeanne Rini Poespoprojo
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 50, No 2 (2018)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Malaria infection during pregnancy is a significant global health problem with substantialrisks for pregnant women, her foetus, and the newborn child. Infant malaria is a majorpublic health concern in Timika, Papua. The aim of the study was to investigate the impactof malaria during pregnancy on infant’s susceptibility to malaria infections, the timing ofits occurrence, the number of malaria infections during pregnancy. This was a cohortprospective study conducted in Timika, Papua from October 2013 to September 2016.Malaria investigation was done by microscopic and PCR methods. Demographic data andmalaria status of mother-infant pairs were collected and analyzed by SPSS 22.0 version.One hundred seventy-eight infants consisting of 95 (53.37%) infants born to motherswith malaria and 83 (46.63%) without malaria 91 (51.12%) boys and 87 (48.88%) girlswere involved in the study. The mean of mothers’ ages were 25.35 ± 6.30 vs. 26.0 ±5.69 years. At the ages of 6 and 12 months, infants born to malaria positive motherswere more susceptible to malaria infections compared to infants born to malaria negativemothers with RR = 3.49; 95%CI: 1.02-11.96; p = 0.03 and RR = 8.74; 95%CI: 1.14-66.81; p = 0.01, respectively. Independent risk factors of infant susceptibility to malariainfection during the first year of life were malaria in pregnancy (MiP) in 2nd trimester (RR= 4.50; 95%CI: 1.5-13.49; p = 0.07), pregnant women who only got malaria infection1 time during pregnancy (RR=2.95; 95%CI: 1.04-8.33; p = 0.04), and Papuan ethnicity(RR=3.58; 95%CI: 1.22-10.59; p = 0.02). In conclusion, infant susceptibility to malariais associated with maternal malaria status during pregnancy. MiP in second trimester,pregnant women who only had malaria once and Papuan ethnicity were independent riskfactors for infant’s increased susceptibility to malaria infection.

The SLCO1B1*15 haplotype associated with lower clinical outcome in Indonesian tuberculosis patients Sunarto Ang; Akhmad Kharis Nugroho; Ahmad Hamim Sadewa; Lukman Hakim; . Mustofa
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 50, No 1 (2018)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Rifampin is one of first-line drugs for the treatment of tuberculosis. In Indonesia nearly alltuberculosis patients show lower rifampin plasma concentrations possibly due to genetics.Rifampin is a substrate of the organic anion-transporting polypeptide 1B1 (OATP 1B1)encoded by the solute carrier organic anion transporter family member 1B1 (SLCO1B1).This study aimed to identify haplotype polymorphisms of tuberculosis drug transporterswith an impact on clinical outcome in tuberculosis patients. Thirty-six patients from AbdulWahab Sjahranie General Hospital, Samarinda, East Kalimantan were involved in thestudy. Buffy coat from patient blood samples were tested for SLCO1B1 and SLCO1B3polymorphisms by RFLP and ARMS PCR, whereas the clinical outcome was examinedbased on the sputum conversion. The frequency of patients with SLCO1B1*15 haplotypewas 63.9%. The SLCO1B1*15 haplotype was associated with susceptibility to failureof clinical outcome (p=0.005; RR=4.52; 95% CI: 1.22-16.64). The OATP1B1*15haplotype revealed that the failure of clinical outcome was markedly increased comparedto the three other haplotypes. These results suggest that the SLCO1B1*15 haplotypeis an important predisposing factor for lower clinical outcome. Our data indicate thatindividualized treatment should be considered for Indonesian tuberculosis patients basedon genetics characteristics of patients.

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