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All Journal Majalah Kedokteran Bandung The Indonesian Biomedical Journal Sari Pediatri
Yunia Sribudiani
Faculty Of Medicine, Universitas Padjadjaran
Biochemistry, Genetics & Molecular Biology Health Professions Medicine & Pharmacology Public Health

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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.
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
Co-Authors Ahmad Rizal Ganiem Alexander Lezhava Dedi Rachmadi Fathul Huda Fiva Aprilia Kadi Herry Herman Iin Pusparini Lidya Chaidir Nabilla Ghina Zavitri Nushrotul Lailiyya Rizki Diposarosa Selma Zein Syafira Siti Aminah Sobana Su Yan Tetty Yuniati Tri Hanggono Achmad Uni Gamayani Yunisa Pamela Yusuf Wibisono