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All Journal Media Farmasi : Jurnal Ilmu Farmasi (Journal Of Pharmaceutical Science) The Indonesian Biomedical Journal Majalah Farmasi dan Farmakologi (Trends in Pharmacy and Pharmaceutical Sciences) Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) Lumbung Farmasi : Jurnal Ilmu Kefarmasian Medical Sains : Jurnal Ilmiah Kefarmasian
Rahmat Dani Satria
Department Of Clinical Pathology And Laboratory Medicine, Faculty Of Medicine, Public Health And Nursing, Universitas Gadjah Mada, Yogyakarta 55281; Clinical Laboratory Installation, Dr. Sardjito Central General Hospital, Yogyakarta 55281
Biochemistry, Genetics & Molecular Biology Chemistry Health Professions Immunology & microbiology Materials Science & Nanotechnology Medicine & Pharmacology Neuroscience Public Health

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Abnormal Complex Karyotyping in A Patient Suspected of Acute Myeloblastic Leukemia (AML-M5): A Case Study Purbosari Purbosari; Usi Sukorini; Rahmat Dani Satria; Tri Ratnaningsih; Setyawati Setyawati
INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY Vol 28, No 2 (2022)
Publisher : Indonesian Association of Clinical Pathologist and Medical laboratory

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24293/ijcpml.v28i2.1762

Abstract

Hemophagocytic Lymphohistiocytosis (HLH) is a condition of immune dysregulation characterized by severe organ damage induced by a hyperinflammatory response and uncontrolled T-cell and macrophage activation. Patients with Acute Myeloblastic Leukemia (AML) may be prone to develop HLH. Hemophagocytic lymphohistiocytosis syndrome in AMLpatients with an abnormal complex karyotyping can worsen the patients' prognosis and outcome. A 47-year-old-female presented with prolonged fever, chills, fatigue, weight loss, productive cough, and anemia (blood transfusion (+)). Laboratory findings: hemoglobin 8.5 g/dL, WBC 151.99x103/μL, and platelet count 28x103/μL, peripheral blood 13% blast like cells, 19% promonocytes, 43% atypical (bizarre) monocytes, 25% neutrophils. Levels of CRP>150 mg/L and procalcitonin 82.67 ng/mL, negative HBsAg, and positive IGRA test. Bone marrow morphology showed hypercellularity, decreased thrombopoiesis and erythropoiesis, increased granulopoiesis, macrophages, and hemophagocytosis. Karyotyping results: abnormal karyotypes: 46: XX (9 cells), 44: X (-18), 45: XX (-4), 45: XX (+7, -2, -16), 46: XX (chtb (3), chtb (4), chtb (5), chtb (9), chtb (12), chtb (22)), 46: XX (chtb (5), chtb (7)), 46: XX (chtb (6), chtb (12)), 46: XX (dic 2), 46: XX (chtb (1) (q12), chtb (3) (p21)), 46: XX (chtb (X) (q25) ), 46: XX (der (9), dic (9)), t (9:22)), 46: XX ((+ 21), (-13) chtb (2), p (23), t ( 9:22)). The conclusion was abnormal complex karyotyping. High concentrations of inflammatory cytokines (interleukin-1, interleukin-6, TNF-alpha, and interferon-gamma) secreted by malignant cells and increased phagocytic function of leukemic cells play an important role in the pathogenesis of HLH. Monocytic components (subtypes AML4 and AML5 of the FAB classification) are predisposing factors in cases of AML-related HLH. Cytogenetic abnormalities involving 8p11 and 16p13 are more common in AML-related HLH. Complex genetic abnormalities exacerbate the prognosis of AML, especially in treatment failure. A concluded that was diagnosed with HLH due to AML-M5 with genetic abnormalities of BCR ABL (+), monosomy, trisomy, and multiple chromatid breakage with high mortality. Karyotyping examination is important to determine the prognosis of the disease.
Mapping rheumatoid arthritis susceptibility through integrative bioinformatics and genomics Nining Medi Sushanti; Wirawan Adikusuma; Arief Rahman Afief; Anita Silas La’ah; Firdayani Firdayani; Rockie Chong; Zainul Amiruddin Zakaria; Barkah Djaka Purwanto; Rahmat Dani Satria; Riat Khair; Abdi Wira Septama; Lalu Muhammad Irham
Media Farmasi: Jurnal Ilmu Farmasi Vol 20, No 1: March 2023
Publisher : Universitas Ahmad Dahlan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.12928/mf.v20i1.24912

Abstract

Rheumatoid arthritis (RA) is an autoimmune disease that influences several organs and tissues, especially the synovial joints, and is associated with multiple genetic and environmental factors. Numerous databases provide information on the relationship between a specific gene and the disease pathogenesis. However, it is important to further prioritize biological risk genes for downstream development and validation.  This study aims to map RA-association genetic variation using genome-wide association study (GWAS) databases and prioritize influential genes in RA pathogenesis based on functional annotations. These functional annotations include missense/nonsense mutations, cis-expression quantitative trait locus (cis-eQTL), overlap knockout mouse phenotype (KMP), protein-protein interaction (PPI), molecular pathway analysis (MPA), and primary immunodeficiency (PID). 119 genetic variants mapped had a potential high risk for RA based on functional scoring. The top eight risk genes of RA are TYK2 and IFNGR2, followed by TNFRSF1A, IL12RB1 and CD40, C5, NCF2, and IL6R. These candidate genes are potential biomarkers for RA that can aid drug discovery and disease diagnosis.
Identifikasi Variasi Gen yang Bersifat Missense/Nonsense Pada Dermatomyositis Dengan Memanfaatkan Database Genomik Dan Bioinformatik Lalu Muhammad Irham; Anisa Nova Puspitaningrum; Wirawan Adikusuma; Eko Mugiyanto; Ageng Brahmadhi; Gina Noor Djalilah; Rahmat Dani Satria; Firdayani; Abdi Wira Septama
Majalah Farmasi dan Farmakologi Vol. 27 No. 1 (2023): MFF
Publisher : Faculty of Pharmacy, Hasanuddin University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20956/mff.v27i01.22185

Abstract

Dermatomyositis merupakan penyakit autoimun yang termasuk jenis idiopatik inflamasi miopati (IIM), penyakit ini dapat mempengaruhi kulit dan otot manusia. Gejala klinis Dermatomyositis pada sebagian besar pasien adalah kelemahan otot tubuh, ruam kulit dan kulit bersisik. Salah satu faktor penyebab Dermatomyositis yang sering dilaporkan adalah faktor genetik. Hingga kini,  penelitian terkait Dermatomyositis masih terbatas pada identifikasi jenis variasi gen yang mempengaruhi, namun tidak melaporkan variasi gen mana yang paling berkontribusi pada Dermatomyositis khususnya yang bersifat missense/nonsense. Sehingga pada penelitian ini kami memanfaatkan database genomik dan analisis bioinformatik  untuk mengidentifikasi variasi gen yang paling berhubungan dengan penyakit Dermatomyositis. Penelitian ini menggunakan beberapa database, termasuk GWAS catalog, PheWAS catalog, HaploReg (v41.), dan GTEx portal. Hasil dari penelitian ini ditemukan bahwa gen ZBP1 berkaitan erat dengan penyakit Dermatomyositis dan menunjukkan ekpresi yang tinggi pada beberapa jaringan seperti paru-paru, lambung, esophagus, kulit, jantung dan otot. Variasi gen berdasarkan frekuensi varian alel (rs59626664, rs60542959, rs2066807, rs1048661, rs745400, rs2305480, rs2305479) terkait Dermatomyositis menunjukkan ekspresi jaringan tertinggi di kulit suprapubic, kulit dibawah lengan, otot rangka, dan esofagus. Penelitian ini menekankan bahwa integrasi database genomik dan analisis bioinformatik menunjukkan variasi gen yang berperan dalam patogenesis Dermatomyositis khususnya yang bersifat missense/nonsense. Kami menyarankan untuk peneliti selanjutnya untuk fokus pada variasi gen tersebut untuk divalidasi di fase klinis khusunya di populasi Indonesia.
Abnormal Complex Karyotyping in A Patient Suspected of Acute Myeloblastic Leukemia (AML-M5): A Case Study Purbosari Purbosari; Usi Sukorini; Rahmat Dani Satria; Tri Ratnaningsih; Setyawati Setyawati
INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY Vol. 28 No. 2 (2022)
Publisher : Indonesian Association of Clinical Pathologist and Medical laboratory

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24293/ijcpml.v28i2.1762

Abstract

Hemophagocytic Lymphohistiocytosis (HLH) is a condition of immune dysregulation characterized by severe organ damage induced by a hyperinflammatory response and uncontrolled T-cell and macrophage activation. Patients with Acute Myeloblastic Leukemia (AML) may be prone to develop HLH. Hemophagocytic lymphohistiocytosis syndrome in AMLpatients with an abnormal complex karyotyping can worsen the patients' prognosis and outcome. A 47-year-old-female presented with prolonged fever, chills, fatigue, weight loss, productive cough, and anemia (blood transfusion (+)). Laboratory findings: hemoglobin 8.5 g/dL, WBC 151.99x103/μL, and platelet count 28x103/μL, peripheral blood 13% blast like cells, 19% promonocytes, 43% atypical (bizarre) monocytes, 25% neutrophils. Levels of CRP>150 mg/L and procalcitonin 82.67 ng/mL, negative HBsAg, and positive IGRA test. Bone marrow morphology showed hypercellularity, decreased thrombopoiesis and erythropoiesis, increased granulopoiesis, macrophages, and hemophagocytosis. Karyotyping results: abnormal karyotypes: 46: XX (9 cells), 44: X (-18), 45: XX (-4), 45: XX (+7, -2, -16), 46: XX (chtb (3), chtb (4), chtb (5), chtb (9), chtb (12), chtb (22)), 46: XX (chtb (5), chtb (7)), 46: XX (chtb (6), chtb (12)), 46: XX (dic 2), 46: XX (chtb (1) (q12), chtb (3) (p21)), 46: XX (chtb (X) (q25) ), 46: XX (der (9), dic (9)), t (9:22)), 46: XX ((+ 21), (-13) chtb (2), p (23), t ( 9:22)). The conclusion was abnormal complex karyotyping. High concentrations of inflammatory cytokines (interleukin-1, interleukin-6, TNF-alpha, and interferon-gamma) secreted by malignant cells and increased phagocytic function of leukemic cells play an important role in the pathogenesis of HLH. Monocytic components (subtypes AML4 and AML5 of the FAB classification) are predisposing factors in cases of AML-related HLH. Cytogenetic abnormalities involving 8p11 and 16p13 are more common in AML-related HLH. Complex genetic abnormalities exacerbate the prognosis of AML, especially in treatment failure. A concluded that was diagnosed with HLH due to AML-M5 with genetic abnormalities of BCR ABL (+), monosomy, trisomy, and multiple chromatid breakage with high mortality. Karyotyping examination is important to determine the prognosis of the disease.
Identifikasi Variasi Gen dan Ekspresi Gen Yang Berhubungan Dengan Anemia Aplastik Menggunakan Pendekatan Genomik dan Bioinformatika Ayu Lifia Nur Kartikasari; Anisa Devi Kharisma Wibowo; Henry Budiawan Prasetya; La Malihi; Nanik Sulistyani; Lalu Muhammad Irham; Wirawan Adikusuma; Abdi Wira Septama; Riat El Khair; Rahmat Dani Satria
Lumbung Farmasi: Jurnal Ilmu Kefarmasian Vol 4, No 2 (2023): Juli
Publisher : UNIVERSITAS MUHAMMADIYAH MATARAM

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.31764/lf.v4i2.13335

Abstract

Anemia aplastik merupakan anemia yang disertai oleh pansitopenia pada tepi darah yang disebabkan oleh kelainan primer pada sumsum tulang dalam bentuk aplasia atau hipoplasia tanpa adanya infiltrasi, supresi atau pendesakan sumsum tulang. Pada anemia aplastik terjadi penurunan produksi sel darah dari sumsum tulang sehingga menyebabkan retikulositopenia, anemia, granulositopenia, monositopenia dan trombositopenia. Anemia aplastika termasuk dalam penyakit yang rentan disebabkan oleh faktor genetik. Salah satu faktor genetik yang banyak diidentifikasi adalah variasi gen atau single nucleotide polymorphism ( SNP). Hingga hari inimetodologi untuk bantuan variasi gen tersebut sudah tersedia dengan bentuk berbagai macam database dan bioinformatika. Tujuan penelitian ini untuk mengidentifikasi variasi gen yang berhubungan dengan Anemia aplastik dan memprioritaskan variasi gen tersebut berdasarkan tingkat kerentanannya melalui pemanfaatan katalog GWAS dan integrasi beberapa database bioinformatika. Hasil penelitian ini kami menemukan ada dua SNP rs1042151 dan rs28367832 yang rentan terhadap anemia aplastik berdasarkan ekpresi gen di jaringan darah . Variasi gen tesebut juga mengkode gen  HLA- DPB1 dan HLA-B dan menunjukkan ekspresi yang tinggi pada jaringan darah ( whole blood ) .Penelitian ini menunjukkan bahwa integrasi variasi gen dan bioinformatika potensial untuk memberikan informasi kepada si terkait kerentanan suatu variasi gen pada suatu penyakit termasuk pada anemia aplastik.
IDENTIFIKASI GEN YANG BERISIKO UNTUK PSORIASIS VULGARIS MELALUI PEMANFAATAN INFORMASI GENOMIC Lisza Niarisessa; Anisa Nova Puspitaningrum; Wirawan Adikusuma; Lalu Muhammad Irham; Maulida Mazaya; Abdi Wira Septama; Riat El Khair; Rahmat Dani Satria; Arief Rahman Afief
Medical Sains : Jurnal Ilmiah Kefarmasian Vol 8 No 4 (2023)
Publisher : Sekolah Tinggi Farmasi Muhammadiyah Cirebon

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37874/ms.v8i4.727

Abstract

Psoriasis vulgaris merupakan penyakit yang berkaitan dengan autoimun menyebabkan terjadinya inflamasi pada permukaan kulit. Psoriasis vulgaris ditandai dengan adanya plak berwarna merah atau merah muda diselimuti oleh sisik putih atau keabuan. Psoriasis vulgaris mempengaruhi sekitar 2% populasi di Amerika Utara dan Eropa. Kerentanan karena faktor genetik merupakan faktor yang berperan penting dalam terjadinya psoriasis vulgaris. Farmakogenomik berkaitan dengan ilmu yang mempelajari faktor genetik yang mempengaruhi variabilitas respon obat antar individu. Salah satu pemanfaatan farmakogenomik untuk pengembangan biomarker farmakogenomik yang digunakan dalam penemuan obat baru memalui penemuan kandidat gen. Identifikasi variasi gen Single Nucleotide Polimorfism (SNPs) sudah banyak dilakukan sekaligus dikembangkan. Database genomic yang menyimpan data SNPs antara lain Database Genomic Wide Association Study (GWAS) dan Phenom Wide Association Studies (PheWAS). Dalam penelitian ini kami mengidentifiasi 245 SNPs terkait psoriasis vulgaris dengan kriteria r2 < 0.8 untuk populasi asia. Untuk memprioritaskan kandidat gen terkait psoriasis vulgaris, kami menggunakan lima kriteria anotasi fungsional (missense, cis-eQTL, PPI, KEGG, Komice) dimana jika lebih dari dua skor kriteria penilaian, maka didefinisikan sebagai gen resiko biologis psoriasis vulgaris. Sebanyak 52 gen teridentifikasi sebagai gen resiko biologis psoriasis vulgaris. Diperoleh satu gen dengan skor tertinggi 4 yaitu Cluster of differentiation 247 (CD247). Pada penelitian ini dijelaskan potensi genetik sebagai biomarker terhadap kerentanan penyakit psoriasis vulgaris dan juga sebagai target obat. Kata Kunci : Psoriasis Vulgaris, Penyakit autoimun, Variasi Genomik.
Normal Value of Thrombocytes Indices in Indonesian Adults: Focus on Gender and Ages Usi Sukorini; Adika Zhulhi Arjana; Tri Ratnaningsih; Rahmat Dani Satria
The Indonesian Biomedical Journal Vol 16, No 4 (2024)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v16i4.3205

Abstract

BACKGROUND: Monitoring platelet count and related indices is crucial for managing hematological disorders. No studies are reporting normal platelet indices in the adult Indonesian population. Therefore, this study was conducted to establish normal reference values for platelet count and indices in a healthy population in Indonesia and investigate their association with platelet count and each parameter.METHODS: This cross-sectional study included healthy adults from both sexes who underwent hematological testing in our laboratory. Two mL of venous blood was drawn and analyzed using an automated machine ADVIA 2120 to identify platelet count, mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit (PCT), mean platelet component (MPC), platelet component distribution width (PCDW), mean platelet mass (MPM), platelet mass distribution width (PMDW), and large platelet count.RESULTS: This study included 1037 subjects with median of 27 (18–58) years old. Normal reference range values for platelet indices in adult Indonesians was established, which was significantly different between males and females (p<0.05) in following parameters: platelet count (191.77–400.37 vs. 203.00–433.00 ×109/L), MPV (7.30–9.91 vs. 7.20–10.00 fL), PDW (38.09–59.83 vs. 37.10–58.50%), PCT (0.17–0.33 vs. 0.17–0.35%), PMDW (0.68–1.06 vs. 0.67–1.04 pg) for males vs. females, respectively. However, other parameters such as MPC, PCDW, MPM, and large platelet, did not show any significant differences.CONCLUSION: The reference intervals of platelet indices in the adult Indonesian population were different from previously established reference values, indicating the importance of dedicated reference interval determination with gender consideration.KEYWORDS: thrombocyte indices, platelet count, hematology reference values, blood platelet analysis 
Co-Authors Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Adika Zhulhi Arjana Ageng Brahmadhi Anisa Devi Kharisma Wibowo Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anita Silas La’ah Arief Rahman Afief Arief Rahman Afief Ayu Lifia Nur Kartikasari Barkah Djaka Purwanto Eko Mugiyanto Firdayani Firdayani Firdayani Gina Noor Djalilah Henry Budiawan Prasetya La Malihi Lalu Muhammad Irham Lisza Niarisessa Maulida Mazaya Nanik Sulistyani Nining Medi Sushanti Purbosari Purbosari Riat El Khair Riat Khair Rockie Chong Setyawati Setyawati Tri Ratnaningsih Usi Sukorini Wirawan Adikusuma Zainul Amiruddin Zakaria