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All Journal Paediatrica Indonesiana Neurona
Rusdy Ghazali Malueka
Departemen Ilmu Penyakit Saraf FK Universitas Gajah Mada/KSM Saraf RSUP Dr. Sardjito, Yogyakarta
Health Professions Medicine & Pharmacology Neuroscience

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Clinicopathologic and molecular profiles of Duchenne and Becker muscular dystrophy Ery Kus Dwianingsih; Meydita Fuzia Putri Insani; Linda Pratiwi; Irianiwati Widodo; Rusdy Ghazali Malueka
Paediatrica Indonesiana Vol 59 No 5 (2019): September 2019
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (1020.671 KB) | DOI: 10.14238/pi59.5.2019.257-64

Abstract

Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic X-linked recessive diseases caused by mutations in the dystrophin (DMD) gene. To our knowledge, molecular analysis to differentiate between DMD and BMD has never been performed in Indonesia. Objective To elaborate the clinicopathologic and molecular profiles of DMD/BMD patients in Yogyakarta, Indonesia. Methods Eighteen muscle biopsy specimens of patients clinically suspected to have DMD/BMD were collected. Possible associations of clinical manifestations, histopathological grading, and immunohistochemistry (IHC) results were analyzed. Polymerase chain reaction (PCR) was performed to identify mutations in exon 52. Results. Positive Gower’s sign and high serum creatine kinase (CK) were observed in most patients. The IHC of dystrophin in two female patients suggested that they were manifesting carriers. Of the 16 male patients, 12 showed negative IHC staining, indicating DMD, while 4 patients demonstrated weak expression of dystrophin, indicating BMD. There was a significant association between high CK level and IHC results (P=0.005), indicating higher CK level in DMD patients. Histopathological grading of muscle biopsy was significantly associated with diagnosis of DMD/BMD using IHC (P=0.01), showing more severe tissue damage in DMD patients. None of the subjects had the single exon 52 deletion. Conclusion This is the first report of a clinicopathologic and molecular profile of DMD/BMD in an Indonesian population. Serum CK level and histopathological grading of muscle biopsy are useful in distinguishing DMD from BMD in settings where an IHC assay is not available.
PERAN PENANDA MOLEKULER PADA TERAPI GLIOMA Malueka, Rusdy Ghazali; Yudiyanta, Yudiyanta; Asmedi, Ahmad
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 35 No 1 (2018)
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v35i1.40

Abstract

   ROLE OF MOLLECULAR MARKER IN GLIOMA THERAPYABSTRACTGliomas are the most common primary Central Nervouus System (CNS) tumors in adults.  Nowdays, glioma classification has been changed from morphological based to molecular based classification. Isositrat dehydrogenase (IDH) muttion gene, chromosome 1p19q codeletion, O6-methylguanine-DNA-methyltransferase (MGMT) promoter methylation, epidermal growth factor receptor (EGFR) amplification, and vascular endothelial growth factor (VEGF) expression play important role in glioma management. These markers are important to be identified to help the diagnosis, determine the prognosis, predict the success of therapy, and develop targeted therapy and chemotherapy of glioma.IDH 1 and 2 gene mutation correlate with better outcome. 1p19q chromosome codeletion also a good prognosis indicator and strong predictor of chemosensitivity. MGMT gene expression level and methylation promoter gene status has a predictive value for glioblastoma patients who are treated with alkylation treatment, such as temozlamide. EGFR gene mutation correlates with aggressiveness and poor prognosis. VEGF over-expression is also comparable with the increasing stage of tumor. Clinical trial show promising therapeutic and safety for patients treated with anti-VEGF therapy, such as bevacizumab.Keywords: Chemotherapy, glioma, molecular marker, targeted therapyABSTRAKGlioma adalah tumor primer susunan saraf pusat (SSP) yang paling umum pada orang dewasa. Klasifikasi glioma saat ini beralih dari pedoman berbasis morfologi ke kriteria molekuler. Terdapat beberapa penanda (marker) molekuler yang berperan pada glioma, yaitu mutasi gen isositrat dehidrogenase (IDH), kodelesi kromosom 1p19q, metilasi promotor O6-metilguanin-DNA-metiltransferase (MGMT), amplifikasi epidermal growth factor receptor  (EGFR), serta ekspresi vascular endothelial growth factor (VEGF). Hal ini penting untuk diidentifikasi untuk membantu diagnosis, menentukan prognosis, memprediksi keberhasilan terapi, serta untuk pengembangan terapi target dan kemoterapi.Adanya mutasi pada gen IDH 1 dan 2 berkaitan dengan prognosis yang lebih baik. Demikian pula kodelesi kromosom 1p19q merupakan indikator prognosis yang baik dan prediktor kuat kemosensitivitas. Tingkat ekspresi dan status metilasi promotor gen MGMT memiliki nilai prediktif pada pasien glioblastoma yang diobati dengan obat alkilasi, seperti temozolomid. Mutasi gen EGFR berkaitan dengan agresivitas dan prognosis yang buruk. Demikian pula over- ekspresi VEGF pada glioma sebanding dengan peningkatan derajat tumor. Uji klinik menunjukkan manfaat terapeutik serta keamanan yang sangat menjanjikan bagi pasien dengan terapi anti-VEGF, seperti bevacizumab.Kata kunci: Glioma, kemoterapi, penanda molekuler, terapi target
FAKTOR PROGNOSIS: TUMOR OTAK PRIMER DAN SEKUNDER Dananjoyo, Kusumo; Malueka, Rusdy Ghazali; Briliansy
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 41 No 5: Edisi Suplemen Neurona Bekerjasama dengan JogjaCLAN 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v41i5.866

Abstract

Brain tumors represent a heterogeneous group of diseases with considerable biological and clinical variability, resulting in highly diverse prognoses even among patients with similar histopathological diagnoses. Accurate prognostic assessment plays a crucial role in guiding appropriate treatment selection, preventing overtreatment or undertreatment, and facilitating the planning of palliative and supportive care. Multiple prognostic factors influence patient survival, including clinical variables (age, functional status, tumor location, and extent of resection), radiological features (tumor size, peritumoral edema, enhancement patterns, diffusion and perfusion MRI), histopathological findings (WHO grade, histological subtype), and biomolecular markers (IDH mutation, 1p/19q co-deletion, MGMT promoter methylation, ATRX loss, EGFR amplification, TERT mutation). In high-grade gliomas, IDH mutation, MGMT methylation, and 1p/19q co-deletion are associated with improved prognosis, while microRNAs such as miR-15b and miR-221 are increasingly recognized as potential prognostic biomarkers. In meningiomas, gross total resection (Simpson grade 1–3) is associated with lower recurrence rates compared to subtotal resection, whereas in brain metastases prognosis is determined by age, Karnofsky Performance Status, number of lesions, and control of the primary tumor. Thus, prognostic estimation extends beyond survival figures, serving as a critical foundation for individualized treatment planning, resource allocation, and effective communication with patients and families, ultimately supporting personalized therapy to enhance quality of life and patient satisfaction. Keywords: Prognostic factors, glioma, meningioma, brain metastases, brain tumors
Co-Authors Ahmad Asmedi Briliansy Dananjoyo, Kusumo Ery Kus Dwianingsih Irianiwati Widodo Linda Pratiwi Meydita Fuzia Putri Insani Yudiyanta Yudiyanta, Yudiyanta