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All Journal Jurnal Ilmiah Kedokteran Wijaya Kusuma Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia Journal of Health and Nutrition Research
Raharjo, Yohanes Timothy
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Biochemistry, Genetics & Molecular Biology Education Health Professions Medicine & Pharmacology Nursing Public Health

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Peran Pemeriksaan Mutasi Gen Dead-Box Helicase 41 (DDX41) pada Sindroma Mielodisplasia Hipoplastik Raharjo, Budiono; Linggawan, Stephani; Sumarpo, Anton; Imannuel, Erica Valencia; Supriadi, Vegy; Lukito, Diane; Raharjo, Yohanes Timothy; Devi, Wivina Riza; Bintoro, Siprianus Ugroseno Yudho
Majalah Kedokteran Indonesia Vol 75 No 5 (2025): Journal of The Indonesian Medical Association - Majalah Kedokteran Indonesia, Vo
Publisher : PENGURUS BESAR IKATAN DOKTER INDONESIA (PB IDI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.47830/jinma-vol.75.5-2025-1847

Abstract

Introduction: DDX41 gene mutations can occur in hematopoietic malignancies, especially acute myeloid leukemia (AML) and myelodysplastic syndrome. The average incidence of myelodysplastic syndrome (MDS) in the general population is 4.5 out of 100,000 people per year. Myelodysplastic syndrome (MDS) can occur with different genetic mutations and will provide different prognoses and therapy results. Hypoplastic myelodysplastic syndrome (MDS) is often found in 10-15% of MDS patients. There have been no case reports or research studies in Indonesia that have reported a case of hypoplastic myelodysplastic syndrome associated with a mutation in the Dead Box Helicase 41 (DDX41) gene.Case Report: A 66-year-old man presented with complaints of weakness. The patient had a history of myelodysplastic syndrome diagnosed two years earlier. Bone marrow aspiration revealed cellularity with decreased granulopoiesis and thrombopoiesis, and myeloblasts accounted for 2.0%. Genetic testing using a Next Generation Sequencing (NGS) panel identified DDX41 p.(Pro258Leu) at 47.9%, DDX41 p.(Arg525His) at 1.7%, and ASXL1 p.(Gln977Ter) at 1.6%. The patient was treated with a combination therapy of venetoclax and azacitidine. Follow-up bone marrow aspiration showed improved cellularity, increased erythropoiesis activity, and a reduction in the number of dysplastic cells. Case Discussion: Mutations in the DDX41 gene can mostly be found in cases of hypoplastic myelodysplastic syndrome, while in normocellular or hypercellular myelodysplastic syndrome, genetic mutations such as SF3B1, TET2, STAG2, ASXL1, and BCOR are mostly found. The DDX41 gene is related to cellular molecules and innate immunity. The DDX41 gene mutation is a determining factor in the administration of chemotherapy. The DDX41 gene mutation is a determining factor in the selection of chemotherapy drugs.Conclusion: DDX41 genetic testing with NGS method is essential for determining the prognosis and appropriate therapy in the management of hypoplastic myelodysplastic syndrome cases.
Correlation Between Platelet-to-Lymphocyte Ratio and Low-Density Lipoprotein Cholesterol Levels in Patients With Coronary Heart Disease Raharjo, Budiono; Siahaan, Halimah; Pradana, Muhammad Sungging; Wijaya, Halik; Alim, Avena Athalia; Raharjo, Yohanes Timothy; Linggawan, Stephani; Sumarpo, Anton
Journal of Health and Nutrition Research Vol. 5 No. 1 (2026)
Publisher : Media Publikasi Cendekia Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.56303/jhnresearch.v5i1.951

Abstract

Coronary heart disease (CHD) remains a leading cause of mortality worldwide and is primarily driven by atherosclerosis, a pathological process in which dyslipidemia and chronic inflammation play central roles. Elevated low-density lipoprotein (LDL) cholesterol is a well-established risk factor for atherogenesis, contributing to lipid accumulation within the arterial wall and subsequent plaque formation. In parallel, inflammatory mechanisms are critically involved in plaque progression and instability, underscoring the importance of inflammatory biomarkers in cardiovascular research. The platelet-to-lymphocyte ratio (PLR) has emerged as a simple and cost-effective hematological marker that reflects systemic inflammation and prothrombotic activity. Several studies have reported an association between elevated PLR and adverse cardiovascular outcomes. However, the relationship between PLR and lipid parameters, particularly LDL cholesterol, remains unclear. Previous findings have been inconsistent, and limited evidence is available regarding this association in patients with stable and medically treated CHD. Given these uncertainties, further investigation is warranted to clarify the relationship between inflammatory markers and lipid profiles in stable CHD populations. Therefore, this study aimed to evaluate the correlation between the platelet-to-lymphocyte ratio and LDL cholesterol levels in patients with stable coronary heart disease.
Membranous Tonsilitis as a Clinical Presentation of Acute Monocytic Leukemia: A Rare Case Report Linggawan, Stephani; Wibowo, Eric Satrio Adi; Gunawan, Catherine Keiko; Raharjo, Budiono; Sumarpo, Anton; Raharjo, Yohanes Timothy; Dwijayanti, Ni Made Intan; Yudho Bintoro, Siprianus Ugroseno
Jurnal Ilmiah Kedokteran Wijaya Kusuma Vol. 14 No. 2 (2025): SEPTEMBER 2025
Publisher : Universitas Wijaya Kusuma Surabaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.30742/jikw.v14i2.4290

Abstract

Background: Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy characterized by the clonal proliferation of immature myeloid precursor cells in the bone marrow and peripheral circulation. Hematologic manifestations such as anemia, thrombocytopenia, and leukocytosis are welldocumented, its association with oral involvement, particularly tonsillitis, is a rare presenting feature. Objective: This case report emphasizes membranous tonsilitis as the primary presenting feature in acute monocytic leukemia (AML-M5). The aim of writing this case study is to provide an illustration that the causes of membranous tonsillitis, beside from the infection, can also be caused by infiltration of leukemia cells. Case Presentation: We report a case of a 27-year-old female presented with fever and was found to have a fluctuating mass on the right side of the neck along with gingival swelling and hyperemic, hypertrophic tonsils with a membranous exudate. The diagnosis from bone marrow aspiration and immunophenotyping revealed as acute monocytic leukemia (AML-M5). Bacterial and fungal infections were excluded through gram staining, potassium hydroxide (KOH) examination, and throat swab culture. The patient was initially stabilized with hydroxyurea, with subsequent clinical improvement, before being referred to a tertiary center for definitive management. Result: This diagnostic workup altogether from all the clinicians leads to the diagnosis of acute myeloid leukemia (AML-M5). Conclusion: This case highlights primary tonsilitis as the primary presenting feature of acute myeloid leukemia (AML-M5), emphasizing the need for continued monitoring and regular follow-up assessment to detect potential relapses and ensure optimal disease management
Co-Authors Alim, Avena Athalia Anton Sumarpo Bintoro, Siprianus Ugroseno Yudho Devi, Wivina Riza Dwijayanti, Ni Made Intan Gunawan, Catherine Keiko Imannuel, Erica Valencia LINGGAWAN, STEPHANI Lukito, Diane Pradana, Muhammad Sungging RAHARJO, BUDIONO Siahaan, Halimah Supriadi, Vegy Wibowo, Eric Satrio Adi Wijaya, Halik Yudho Bintoro, Siprianus Ugroseno