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All Journal Sari Pediatri Paediatrica Indonesiana Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education and Research Institute
Pustika Amalia Wahidiyat, Pustika Amalia
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Health Professions Medicine & Pharmacology Neuroscience Public Health

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Sindrom Nefrotik Monogenik: Pendekatan Klinis dan Diagnosis Fahlevi, Reza; Trihono, Partini Pudjiastuti; Muktiarti, Dina; Wahidiyat, Pustika Amalia; Hidayati, Eka Laksmi; Hafifah, Cut Nurul
Sari Pediatri Vol 26, No 3 (2024)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/sp26.3.2024.189-96

Abstract

Sindrom nefrotik merupakan penyakit ginjal yang sering ditemukan pada anak-anak, dengan insiden 1-3 per 100.000 anak di bawah usia 16 tahun. Sekitar 10-20% anak dengan sindrom nefrotik mengalami sindrom nefrotik resisten steroid (SNRS), dan 10-30% dari kasus ini disebabkan oleh kelainan genetik. Pada SNRS monogenik, terdapat dua jenis yaitu sindromik (dengan gejala ekstra-renal) dan non-sindromik (tanpa gejala ekstra-renal). Penanganan SNRS memerlukan pendekatan klinis yang berbeda tergantung pada etiologi genetiknya. Pemeriksaan genetik, termasuk gen tunggal, panel multigen, dan genomik komprehensif, dapat mengidentifikasi varian patogenik, menetapkan diagnosis yang akurat, menyesuaikan terapi (termasuk penghentian terapi imunosupresan dan pemberian terapi yang lebih spesifik) konseling genetik, serta penanganan komprehensif terhadap manifestasi ekstra-renal terkait. Oleh karena itu, pendekatan klinis yang efektif harus didasarkan pada hasil pemeriksaan genetik untuk pengelolaan yang optimal dan konseling yang lebih tepat.
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.  
Biomarker Inflamasi (IL1?, IL6, TNF?, CRP) dan Mikronutrien (Zat Besi, Seng) pada Anak dengan Stunting Usia 6-59 Bulan: Sub Analisis SEANUTS II Ranto, Huminsa; Yuliarti, Klara; Munasir, Zakiuddin; Gunardi, Hartono; Wahidiyat, Pustika Amalia; Satari, Hindra Irawan; Sekartini, Rini
Sari Pediatri Vol 27, No 5 (2026)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/sp27.5.2026.316-22

Abstract

Latar belakang. Stunting memengaruhi 19,8% anak Indonesia usia di bawah lima tahun, menurut Survei Status Gizi Nasional tahun 2024. Sitokin proinflamasi (IL-1?, IL-6, TNF-?) dan defisiensi mikronutrien (zat besi, seng) diduga berperan dalam terjadinya stunting, terutama di negara berpendapatan menegah ke bawah, karena perannya dalam penghambat pertumbuhan tulang dan fungsi imun.Tujuan. Untuk mengetahui hubungan kadar sitokin proinflamasi, C-reactive protein (CRP), zat besi, dan seng dengan status stunting pada anak Indonesia usia 6-59 bulan.Metode. Data dikumpulkan dari sampel darah 100 anak Indonesia usia 6–59 bulan, dengan analisis statistik menggunakan uji chi-square, uji t, atau uji Mann-Whitney (p<0,05 dianggap bermakna).Hasil. Dari 100 subjek, 49 mengalami stunting dan 51 memiliki status gizi normal. Tingkat pendidikan dan pendapatan orang tua lebih rendah pada kelompok stunting (masing-masing p=0,019 dan p<0,001). Kadar median sitokin (IL-1?: p=0,344; IL-6: p=0,121; TNF-?: p=0,213), CRP (p=0,320), serta kadar mikronutrien (feritin: p=0,087; seng: p=1,000) tidak menunjukkan perbedaan bermakna antara kedua kelompok. Kesimpulan. Tidak ditemukan hubungan bermakna antara sitokin proinflamasi dan defisiensi mikronutrien yang diteliti dengan kejadian stunting, kemungkinan karena ukuran sampel yang terbatas dan bias perkotaan. Faktor sosial ekonomi berpengaruh signifikan terhadap stunting. Diperlukan penelitian longitudinal dengan sampel yang lebih besar untuk memperjelas hubungan tersebut.
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

Show Abstract | Download Original | Original Source | Check in Google Scholar

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 Damayanti Sekarsari Dina Muktiarti, Dina Eka Laksmi Hidayati, Eka Laksmi Fitri Primacakti, Fitri Hafifah, Cut Nurul Hartono Gunardi Hindra Irawan Satari Iskandar, Stephen Diah Joedo Prihartono Munasir, Zakiuddin Novie Amelia Chozie Partini Pudjiastuti Trihono, Partini Pudjiastuti Ramadhani, Nadhifa Tazkia Ranto, Huminsa REZA FAHLEVI Rini Sekartini Salsabila, Sheila Claudhea Sukartini, Ninik Teny Tjitra Sari, Teny Tjitra Yosia, Mikhael Yuliarti, Klara