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erbandingan Positivitas Metode MODS, Pewarnaan ZN, dan GeneXpert untuk Mendeteksi M. tuberculosis pada Pasien Meningitis TB Paramitha, Niken Ayu; Sribudiani, Yunia; Rizal, Ahmad
Majalah Kedokteran Bandung Vol 50, No 4 (2018)
Publisher : Faculty of Medicine, Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (458.693 KB) | DOI: 10.15395/mkb.v50n4.1267

Abstract

Salah satu permasalahan dalam diagnosis meningitis tuberkulosis (TB) adalah rendahnya positivitas metode yang digunakan. Berbagai metode telah dikembangkan, mulai dari metode kultur MODS (microscopic observation drug susceptibility), pewarnaan Ziehl-Neelsen (ZN), hingga GeneXpert. Penelitian ini dilakukan untuk menentukan metode diagnostik terbaik mendeteksi M. tuberculosis berdasar atas nilai positivitasnya. Penelitian ini merupakan observasional analitik dengan rancangan potong lintang. Data berasal dari penelitian kohort dan ReDEFINe meningitis TB di Rumah Sakit Umum Pusat Dr. Hasan Sadikin Bandung. Data diambil dari case report form pasien dengan diagnosis meningitis TB pada periode Juli 2014–Juni 2016. Kriteria inklusi penelitian ini adalah usia ≥18 tahun dan memiliki hasil pemeriksaan MODS, pewarnaan ZN, dan GeneXpert. Analisis data menggunakan Uji Cochran’s Q dan uji lanjut dengan Uji McNemar. Sebanyak 135 subjek penelitian memenuhi kriteria inklusi dan didapatkan positivitas deteksi M. tuberculosis menggunakan MODS, pewarnaan ZN, dan GeneXpert berturut-turut adalah 46,7%; 20,0%; dan 37,8%. Nilai positivitas antara ketiga metode tersebut secara statistik berbeda bermakna dengan nilai p<0,05. Sensitivitas dan spesifisitas GeneXpert dibanding dengan MODS berturut-turut mencapai 68,3% dan 88,9%, sedangkan sensitivitas pewarnaan ZN sebesar 34,9% dan spesifisitas 93.1%. Berdasar atas nilai positivitas dan sensitivitas, hasil penelitian ini menunjukkan bahwa metode MODS masih merupakan metode diagnostik terbaik untuk meningitis TB.  Kata kunci: Diagnosis, GeneXpert, meningitis tuberkulosis, MODS, pewarnaan Ziehl- Neelsen  Comparison of Positivity Rate of MODS, Ziehl-Neelsen Staining, and GeneXpert Methods in M. tuberculosis Detection among Tuberculous Meningitis PatientsOne of the problems in the diagnosis of tuberculous meningitis (TBM) is the low positivity rate of the diagnostic methods. Various methods have been developed, starting from culture MODS (microscopic observation drug susceptibility) to Ziehl-Neelsen (ZN) staining and to GeneXpert. This study was conducted to determine the best diagnostic method to detect M. tuberculosis based on its positivity rate. This cross-sectional analytic observational study was conducted on TBM cohort of the ReDEFINe study in Dr. Hasan Sadikin General Hospital. Data were collected from the case reports of TBM inpatients during the period of  July 2014–June 2016. Patients ≥18 years who had complete result from MODS, ZN staining, and GeneXpert were included. Data were analyzed using Cochran’s Q test and post-hoc analysis using McNemar test. In total, 135 subjects were included in this study. The positivity rates of M. tuberculosis  detection using MODS, ZN staining, and GeneXpert were 46.7%, 20.0%, and 37.8%, respectively. The positivity rate differences among the three diagnostic methods were statistically significant with a p-value of <0.05. The sensitivity and specificity of GeneXpert compared to those of MODS were 68.3% and 88.9%,respectively. Meanwhile the sensitivity and specificity of ZN staining were 34.9% and 93.1%, respectively. Based on the positivity rate and sensitivity, the results of this study indicates that the MODS method is still the best diagnostic method for TB meningitis.Key words: Diagnosis, GeneXpert, MODS, tuberculous meningitis, ziehl-neelsen Staining 
Spinocerebellar Ataxia 3 (SCA3) Patient with Peripheral Neuropathy Siti Aminah Sobana; Iin Pusparini; Nushrotul Lailiyya; Ahmad Rizal Ganiem; Uni Gamayani; Yusuf Wibisono; Fathul Huda; Yunia Sribudiani; Tri Hanggono Achmad
Majalah Kedokteran Bandung Vol 54, No 1 (2022)
Publisher : Faculty of Medicine, Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15395/mkb.v54n1.2394

Abstract

Spinocerebellar ataxia (SCA) 3 is a neurodegenerative disease which involves cerebellum and extra cerebellum. Neuropathy in SCA3 manifests in various ways, including axonal and demyelination lesions in sensory and motor nerves. There has not been any study that describes the peripheral neuropathy characteristics of SCA3 patients in Indonesia at the time of this publication. This paper reports a case of a 43-year-old male with known spinocerebellar ataxia 3 presented with hereditary ataxia and mild numbness in both palms since two years before. No abnormalities were found during the sensory examination. The NCS showed severe axonal demyelinating sensorimotor peripheral neuropathy. In magnetic resonance imaging (MRI), an atrophy in the cerebellum with cerebral multiple lacunar infarction was identified. Electrophysiological results revealed profound axonal lesion in peripheral nerves. To conclude, peripheral neuropathy in SCA3 represents the dominance of axonal lesions in motor nerves.
Positivity Rate of Pyrosequencing to Diagnose Drug-Resistant Tuberculosis Directly from Sputum with Different Bacterial Load Selma Zein Syafira; Nabilla Ghina Zavitri; Su Yan; Yunia Sribudiani; Alexander Lezhava; Lidya Chaidir
The Indonesian Biomedical Journal Vol 12, No 4 (2020)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v12i4.1130

Abstract

BACKGROUND: Molecular techniques, which detect mutations associated with drug resistance tuberculosis (TB), are promising technologies for rapid diagnosis and monitoring of drug-resistant TB. Pyrosequencing is a potential rapid and robust molecular technique to detect drug resistance but its performance in clinical samples is less investigated. This study aimed to determine the positivity rate of pyrosequencing to diagnose drug-resistant TB directly from sputum samples with different grades of sputum smear microscopy results.METHODS: Thirty-five sputum specimens from drug-resistant TB suspects were submitted for acid-fast bacilli (AFB) microscopy. All specimens were cultured using microscopic observation drug susceptibility (MODS) culture. Pyrosequencing was performed to DNA extracted from sputum of culture-positive patients.RESULTS: MODS culture was positive in 19/35 subjects (54.29%) samples; 16 smear-positive and three smear-negative. Using pyrosequencing, Mycobacterium tuberculosis was identified in all culture-positive samples, including smear-negative samples. A complete resistance profile for 16 (82.35%) samples could be generated. Pyrosequencing failed to show results for eis or gyrA promoter in three samples. Nine of 19 patients were multidrug resistant-TB (MDR-TB), 1/19 was rifampicin-resistance TB (RR-TB), and 4/19 were pre-extensively drug-resistant TB (pre-XDR-TB). Two novel mutations in rpoB and rrs (associated with rifampicin and aminoglycoside, respectively) were found in this study.CONCLUSION: The results of this study demonstrates high positivity rates of pyrosequencing to detect drug-resistant TB directly from sputum samples with different grades of smear microscopy, as the surrogate of bacterial load. The assay can be used as a first prediction test of drug resistance prior to confirmation by phenotypic tests.KEYWORDS: drug-resistant tuberculosis, pyrosequencing, direct sputum
Peran IL-1 β pada Sepsis dan Gangguan Ginjal Akut Bayi Lahir Prematur Fiva Aprilia Kadi; Tetty Yuniati; Yunia Sribudiani; Dedi Rachmadi
Sari Pediatri Vol 22, No 4 (2020)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/sp22.4.2020.208-12

Abstract

Latar belakang. Interleukin-1β berperan dalam kejadian infeksi/inflamasi pada bayi prematur yang dapat menyebabkan gejala klinis berat. Imaturitas organ dapat menyebabkan kejadian inflamasi yang dapat merangsang pembentukan sitokin, salah satunya Interleukin-1β. Belum ada penelitian yang menghubungkan marker tersebut terhadap sepsis dan gangguan ginjal akut pada bayi prematur.Tujuan. Melihat peran Interleukin-1β pada kejadian sepsis dan gangguan ginjal akut bayi prematur. Metode. Studi analitik komparatif kohort pada bayi lahir prematur usia kehamilan ≤36 minggu dan berat lahir <2000gram lahir di RS dr. Hasan Sadikin Bandung. Diperiksakan kadar serum Interleukin-1β usia 24 jam lahir dan serum creatinin usia 24 dan 72 jam.Hasil. Nilai cut-off point Interleukin-1β serum bayi prematur sepsis sebesar 8,67 pg/dL, dengan odd ratio (OR) 6,56 (95%CI: 2,50-17,19), dan pada bayi prematur dengn gangguan ginjal akut 2,35 pg/dL dengan odd ratio (OR) 7,2 (95%CI: 4,58-18,20). Keduanya mempunyai nilai sensitifitas dan spesifitas cukup tinggi. Kesimpulan. Kadar interleukin-1β serum dapat dipertimbangkan menjadi salah satu marker untuk memprediksi kejadian sepsis dan gangguan ginjal akut pada bayi prematur.
Knowledge towards Thalassemia and Willingness to Screen among Students in Public Senior High School 3 Bandung Rima Destya Triatin; Lulu Eva Rakhmilia; Yunia Sribudiani; Susi Susanah
Althea Medical Journal Vol 9, No 4 (2022)
Publisher : Faculty of Medicine Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15850/amj.v9n4.2730

Abstract

Background: Thalassemia carrier screening is a major preventive measure  potentially influenced by the level of knowledge, particularly in adolescents. Therefore, this study aimed to analyze the effect of health education on knowledge of thalassemia in adolescents and its association with their willingness to do thalassemia screening.Methods: A cross-sectional study was conducted using data regarding knowledge of thalassemia before and after health education sessions from 229 students at Public Senior High-School 3 Bandung. All participants attended a one-day health education in July 2019. A questionnaire was filled in to measure their knowledge regarding thalassemia before and after the session, including knowledge on etiology and definition, risk of disease, clinical manifestations, treatment, complication, prognosis, and disease prevention. Only data with complete questionnaire responses were included. These responses were scored quantitatively and analyzed for their association with participants’ willingness to screen. Results: Participants were knowledgeable concerning thalassemia before the health education session (median, range: 60.0, 25.0-90.0), and knowledge was increased significantly after the education session (median, range: 80.0, 35.0-100.0) with an increased median difference=19.99 (p-value <0.001). Although there was no significant association between the overall post-test score on participants’ willingness to screen (p-value >0.05), the willingness was slightly associated with improved knowledge regarding the risk of disease (OR: 1.02; 95%CI: 1.00-1.03; p-value <0.005). Conclusion: Health education regarding thalassemia significantly increases general knowledge of thalassemia. However, improving knowledge is not significant in influencing adolescents’ motivation to take the screening tests.
SYSTEMATIC REVIEW: PEMODIFIKASI GENETIK β-THALASSEMIA Mutia Syafira; Yunia Sribudiani; Ani M Maskoen
Journal of Medicine and Health Vol 6 No 1 (2024)
Publisher : Universitas Kristen Maranatha

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.28932/jmh.v6i1.4788

Abstract

Thalassemia merupakan penyakit herediter yang diturunkan secara autosomal resesif. Thalassemia dibedakan berdasarkan variasi mutasi pada gen globin yaitu gen α-globin (HBA) pada α-Thalassemia dan β-globin (HBB) pada β-Thalassemia. Penelitian ini bertujuan untuk mengetahui potensi pemodifikasi genetik pada penderita β-Thalassemia. Data sistimatika review dengan pengumpulan jurnal terkait pada cangkupan kata kunci yang dikomplikasikan prinsip PRISMA. Beberapa hasil studi melaporkan polimorfisme dan atau mutasi pada gen KLF1, BCL11A dan region intergenik HBS1L-MYB sebagai pemodifikasi genetik pada β-Thalassemia, didapatkan sembilan jurnal yang masuk ke dalam kriteria inklusi. Berdasarkan hasil review yang dapat ditelaah bahwa pemodifikasi genetik pada kasus β-Thalassemia diketahui adanya mutasi atau polimorfisme pada gen-gen berikut KLF1, BCL11A, dan HBS1L-MYB cenderung meningkatkan produksi HbF dengan mengatur ekspresi γ-globin dan memperbaiki gejala klinis pasien β-Thalassemia. Simpulan dari kasus tersebut menjadikan peluang di kemudian hari untuk perawatan pasien yang dipersonalisasi disesuaikan dengan fenotipe yang meringankan gejala penderita β-Thalassemia.
A Potential Pathogenic SRD5A2 Mutation and rs632148, rs523349 and rs522638 Polymorphisms in Increasing the Risk of Syndromic Hypospadias in Indonesian Population Rizki Diposarosa; Yunisa Pamela; Herry Herman; Yunia Sribudiani
The Indonesian Biomedical Journal Vol 16, No 3 (2024)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v16i3.2968

Abstract

BACKGROUND: Hypospadias, a congenital birth defect in male, is the opening of the urethra located on the ventral side of the penis. Several mutations in SRD5A2 encoding steroid 5 alpha-reductase type 2 protein have been identified in hypospadias and polymorphisms in this gene have been known to be associated with an increased risk of hypospadias. In this study, several crucial molecular analyses of the SRD5A2 gene and the association of the identified variants to the risk of syndromic hypospadias in Indonesian population were conducted.METHODS: Thirty-two isolated and 29 syndromic hypospadias patients were enrolled in this study. DNA was isolated from whole blood for the amplification of all exons and exon-intron boundaries of SRD5A2 by polymerase chain reaction (PCR), followed by Sanger sequencing. In silico analysis was performed using PolyPhen-2, Sorting Intolerant from Tolerant (SIFT) and Align GVGD. Statistical analysis was performed using Chi-squared test.RESULTS: A novel missense mutation c.32T>C/p.Leu11Pro was identified in one isolated hypospadias patient and the in silico analysis predicted the mutation to be pathogenic. Three polymorphisms were identified, two in the non-coding region (c.-62G>C/rs632148 and c.281+15T>C/rs522638) and one in exon-1 (c.265C>G/p.Val89Leu/rs523349). Mutant alleles of these polymorphisms were significantly associated with syndromic hypospadias with odds ratios (OR) of 3.4, 3.13 and 2.54 respectively.CONCLUSION: This study suggests that SRD5A2 mutation is one of the causes of hypospadias in Indonesian population and rs632148, rs523349 and rs522638 polymorphisms are significantly associated with an increased risk of syndromic hypospadias.KEYWORDS: mutation, polymorphism, SRD5A2, syndromic hypospadias
SYSTEMATIC REVIEW: PEMODIFIKASI GENETIK β-THALASSEMIA Syafira, Mutia; Sribudiani, Yunia; Maskoen, Ani M
Journal of Medicine and Health Vol 6 No 1 (2024)
Publisher : Universitas Kristen Maranatha

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.28932/jmh.v6i1.4788

Abstract

Thalassemia merupakan penyakit herediter yang diturunkan secara autosomal resesif. Thalassemia dibedakan berdasarkan variasi mutasi pada gen globin yaitu gen α-globin (HBA) pada α-Thalassemia dan β-globin (HBB) pada β-Thalassemia. Penelitian ini bertujuan untuk mengetahui potensi pemodifikasi genetik pada penderita β-Thalassemia. Data sistimatika review dengan pengumpulan jurnal terkait pada cangkupan kata kunci yang dikomplikasikan prinsip PRISMA. Beberapa hasil studi melaporkan polimorfisme dan atau mutasi pada gen KLF1, BCL11A dan region intergenik HBS1L-MYB sebagai pemodifikasi genetik pada β-Thalassemia, didapatkan sembilan jurnal yang masuk ke dalam kriteria inklusi. Berdasarkan hasil review yang dapat ditelaah bahwa pemodifikasi genetik pada kasus β-Thalassemia diketahui adanya mutasi atau polimorfisme pada gen-gen berikut KLF1, BCL11A, dan HBS1L-MYB cenderung meningkatkan produksi HbF dengan mengatur ekspresi γ-globin dan memperbaiki gejala klinis pasien β-Thalassemia. Simpulan dari kasus tersebut menjadikan peluang di kemudian hari untuk perawatan pasien yang dipersonalisasi disesuaikan dengan fenotipe yang meringankan gejala penderita β-Thalassemia.
Relationship between Clinicopathological Features and Expression of COX-2 among Colorectal Cancer Patients: A Prospective Observational Study Mohamad Romdhoni; Kiki Lukman; Reno Rudiman; Andriana Purnama; Bambang Am&#039;am Setya Sulthana Degrees; Tommy Ruchimat; Alma Wijaya; Yunia Sribudiani Degrees; Prapanca Nugraha
Contagion: Scientific Periodical Journal of Public Health and Coastal Health Vol 7, No 3 (2025): CONTAGION
Publisher : Universitas Islam Negeri Sumatera Utara, Medan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.30829/contagion.v7i3.24233

Abstract

Colorectal cancer (CRC) is the third most common cancer globally and a leading cause of cancer-related mortality. Cyclooxygenase-2 (COX-2) plays a critical role in CRC pathogenesis by promoting inflammation, tumor proliferation, and metastasis. COX-2 inhibitors, such as NSAIDs, have shown potential in reducing CRC progression. However, the relationship between COX-2 expression and clinicopathological features remains controversial. This study aims to assess the correlation between COX-2 expression and clinicopathological characteristics in CRC patients in Indonesia. A prospective observational study was conducted on 81 CRC patients at a tertiary hospital in West Java, Indonesia, from January to June 2024. COX-2 expression was quantified using qPCR from tumor tissue samples. Clinicopathological data, including age, sex, tumor grade, stage, and complications, were collected and analyzed. Among the 81 participants, 81.5% were over 50 years old. Low-grade adenocarcinoma was the most prevalent histopathological type (73%), followed by high-grade adenocarcinoma (11%) and mucinous adenocarcinoma (11%). The majority of cases were in regional or early stages (74%), while 26% were in late stages. Higher COX-2 expression was more frequent in males, rectal tumors, high- grade adenocarcinomas, advanced stages, and metastatic cases. Although no statistically significant association was found, a trend toward increased COX-2 expression in advanced CRC was observed. No significant association was found between COX-2 expression and clinicopathologic characteristics of CRC. However, higher COX-2 expression may be associated with advanced disease. Keyword: Clinicopathological features, Colorectal cancer, Cyclooxygenase-2, Inflammation, Metastasis
Concordance of KRAS Mutation in Tumor Tissues and Fecal Samples of Colorectal Carcinoma Patients Ahmad Bahrudin; Reno Rudiman; Andriana Purnama; Kiki Lukman; Yunia Sribudiani; Prapanca Nugraha
The Indonesian Biomedical Journal Vol 18, No 4 (2026)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v18i4.4279

Abstract

BACKGROUND: Colorectal cancer (CRC) is a major global health problem associated with high cancer-related mortality. Profiling of Kirsten rat sarcoma viral oncogene homolog (KRAS) mutation status has become a decisive predictive biomarker in the management of CRC. However, KRAS mutation testing is commonly performed using tumor tissue obtained through invasive biopsy or surgery; therefore, fecal DNA analysis might offer a promising non-invasive alternative. This study was conducted to evaluate the concordance of KRAS mutations between matched tumor tissue and fecal samples and their association with clinicopathological characteristics.METHODS: This cross-sectional study included 94 patients confirmed of CRC. Tumor tissue specimens were obtained during surgical resection or biopsy, while fecal samples were collected pre-operatively. KRAS mutations were analyzed using polymerase chain reaction (PCR) and DNA sequencing, and the associations with clinicopathological variables were statistically evaluated.RESULTS: KRAS mutations were detected in 45.74% of tumor tissue and 26.60% of fecal samples. The overall concordance rate was 65.96%, with a Cohen’s Kappa of 0.291 (95% CI: 0.110–0.472), indicating "fair agreement". Notably, allele-specific concordance was 100% among double-positive cases. The fecal assay demonstrated 41.86% sensitivity, 86.27% specificity, 72.00% positive predictive value (PPV), and 63.77% negative predictive value (NPV). Tumor location (colon versus rectum) was significantly associated with fecal KRAS detection (p=0.028); other variables showed no significant association (p>0.05).CONCLUSION: KRAS mutations were more frequently detected in tissue than in fecal samples, with fair agreement. High allele-specific concordance suggests fecal DNA accurately reflects the tumor's mutational profile. Tumor location significantly influences DNA detectability, supporting fecal-based KRAS testing as a potential non-invasive approach for CRC molecular assessment.KEYWORDS: colorectal neoplasms, feces, KRAS protein, human, mutation, neoplasm tissue