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All Journal Paediatrica Indonesiana BIOEDUSCIENCE Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education and Research Institute
Ramadhani, Nadhifa Tazkia
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Agriculture, Biological Sciences & Forestry Biochemistry, Genetics & Molecular Biology Education Health Professions Medicine & Pharmacology Neuroscience Public Health

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Metabolite Profiling and Bioprospecting of Acrolejeunea fertilis (Reinw., Blume & Nees) Schiffn. from Kebun Raya Cibodas, West Java Ramadhani, Nadhifa Tazkia; Handayani, Windri; Yasman, Yasman; Putrika, Afiatry
BIOEDUSCIENCE Vol 8 No 1 (2024): BIOEDUSCIENCE
Publisher : Universitas Muhammadiyah Prof. Dr. Hamka

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22236/jbes/13187

Abstract

Background: Acrolejeunea fertilis (liverwort) is known for having various potential natural products. However, its abundance is limited, and its secondary metabolites have not been extensively investigated. The in vitro culture technique might enhance its biomass. Methods: This study aimed to investigate the metabolite profile of A. fertilis from Kebun Raya Cibodas grown in situ and in vitro. The bioactivity, including antioxidant, total phenolic, and flavonoid content and antibacterial activity, was also evaluated. The in vitro culture of A. fertilis used ½ MS media with the addition of 0,1 mg/L of 2,4-D and one mg/L of Kinetin. Methanol and n-hexane were used for extraction. Gas Chromatography-Mass spectrometry (GC-MS) is used for metabolite profiling. Results: The optimum IC50 value from n-hexane extract is 68,18±2,65 mg/L. The highest yield of total phenolic and flavonoid content from in situ methanol extract, which resulted in 130,68±0,002 µgGAE/gr and 5,97±0,01 µgQE/gr, respectively. Antibacterial activities were evaluated by measuring the zone of inhibition for S. aureus and E. coli. The optimum area measured from in situ n-hexane extract was 23,91±1,54 and 13,08±0,23 cm, respectively. Conclusions: These findings carry important implications for the further development of natural products obtained from liverwort regarding its potential as a bioactive compound.
Association between Musculoskeletal Status and Genetic Mutations in Patients with Hemophilia A Primacakti, Fitri; Wahidiyat, Pustika Amalia; Sjarif, Damayanti R.; Chozie, Novie Amelia; Candini, Naura Anindya; Prihartono, Joedo; Sukartini, Ninik; Ramadhani, Nadhifa Tazkia; Lubis, Bidasari
Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education Research Institute Vol. 9 No. - (2025): Proceedings Book of International Conference and Exhibition on The Indonesian M
Publisher : Writing Center IMERI FMUI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.69951/proceedingsbookoficeonimeri.v9i-.316

Abstract

Introduction: Hemophilia A is an inherited bleeding disorder caused by mutations in the factor VIII (FVIII) gene. These mutations result in either reduced FVIII synthesis (null variants) or loss of FVIII function (non-null variants). Null variants are typically associated with more severe FVIII deficiency and recurrent joint bleeding, which may adversely affect musculoskeletal health.  Objective: To evaluate the relationship between musculoskeletal status and genetic mutations in patients with hemophilia A. Methods: A cross-sectional study was conducted at the Faculty of Medicine Universitas Indonesia-Dr. Cipto Mangunkusumo Hospital from June 2024 to March 2025. Genetic analysis was performed at the Human Genetic Research Center using inverse-shifting PCR and Sanger sequencing. Mutations were classified as null variants (intron-22 inversion, intron-1 inversion, large deletion, and nonsense mutations) and non-null variants (missense and non-conserved splice mutation). Musculoskeletal status was assessed by the presence of target joints and the Hemophilia Joint Health Score (HJHS), which evaluates global gait and joint function of the elbows, knees, and ankles. Higher HJHS scores indicate worse joint health.  Results: Sixty patients were included in this study, of which 39 had severe, 15 had moderate, and the remaining 6 had mild hemophilia A. The median age was 9.5 years (range 2-18). Null variants were identified in 45/60 patients and non-null variants in 15/60 patients. The most common target joints were the knees in patients with null variants and the ankles in those with non-null variants. The median HJHS was 4 (Q1-Q3: 2-13.5) in the null variant group and 2 (Q1-Q3: 1-11) in the non-null variant group. No significant association was observed between the target joint and the HJHS and genetic mutations. Further subgroup analysis showed no difference in HJHS between mutation groups among patients receiving prophylaxis (p=0.366) or on-demand treatment (p=0.458). Conclusion: No association was found between genetic mutation type and musculoskeletal status in patients with Hemophilia A. HJHS did not differ between mutation groups regardless of treatment regimens.  
Clinical characteristics and genetic mutations in hemophilia A patients with inhibitors Primacakti, Fitri; Wahidiyat, Pustika Amalia; Sjarif, Damayanti Rusli; Chozie, Novie Amelia; Sukartini, Ninik; Prihartono, Joedo; Salsabila, Sheila Claudhea; Ramadhani, Nadhifa Tazkia; Lubis, Bidasari
Paediatrica Indonesiana Vol. 66 No. 1 (2026): January 2026
Publisher : Indonesian Pediatric Society

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Abstract

Background Antibodies to factor VIII, known as inhibitors, are a major problem in hemophilia A, especially in severe cases. Certain genetic mutations are associated with a higher risk of the formation of inhibitors. This study is the first in Indonesia to report on genetic mutations of hemophilia A patients with inhibitors. Objectives To detect genetic mutations, investigate potential risk factors, and evaluate inhibitor prevalence in pediatric hemophilia A patients. Methods An observational study was conducted at the Pediatric Hemophilia Treatment Center of Cipto Mangunkusumo Hospital, Jakarta. Inhibitors were measured using the Bethesda assay and classified as low- or high titer. Inverse shifting polymerase chain reaction (IS-PCR) was performed to detect inversion mutations. Negative results for inversion were followed by Sanger sequencing. Clinical data were obtained from medical records. Results Inhibitors were detected in 17 of 114 hemophilia A patients (14.9%), most of whom (88.2%) had severe disease and had fewer than 150 days of exposure to clotting factor concentrates (CFCs), classifying them as previously untreated patients (PUPs). The genetic mutations identified in inhibitor patients were intron 22 inversion (INV-22) mutations (41.2%), intron 1 inversion (INV-1) mutations (29.4%), nonsense mutations (17.6%), large deletions (5.9%), and missense mutations (5.9%). Family history of inhibitors, previous intensive treatment for major bleeding events or surgery, and type of concentrate were potential risk factors. Conclusion Intron 22 inversion mutations were the most common mutations associated with the presence of inhibitors in hemophilia A patients.
Co-Authors Bidasari Lubis Candini, Naura Anindya Damayanti R. Sjarif Damayanti Rusli Sjarif Fitri Primacakti, Fitri Handayani, Windri Joedo Prihartono Novie Amelia Chozie Pustika Amalia Wahidiyat, Pustika Amalia Putrika, Afiatry Salsabila, Sheila Claudhea Sukartini, Ninik Yasman Yasman