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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
Fitri Primacakti, Fitri
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Health Professions Medicine & Pharmacology Neuroscience Public Health

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Family functioning, parental cancer-related emotions, and quality of life in childhood cancer patients Andriastuti, Murti; Fathinasari, Anisa Dwi; Arafah, Nurani Rahma; Asa, Annisa Aditya; Salsabila, Khansa; Primacakti, Fitri
Paediatrica Indonesiana Vol. 64 No. 3 (2024): May 2024
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi64.3.2024.250-7

Abstract

Background Childhood cancer and its treatment affects not only children’s health, but also children’s and families’ psychosocial function, relationship, emotion, and quality of life. Several studies in developed countries have been conducted to address this issue using the Family Adaptation and Cohesion Scales (FACES) III and the Situation-Specific Emotional Reaction Questionnaire (SSERQ). Screening psychosocial problems is crucial as part of cancer comprehensive care. Objective To investigate the dynamics of family functioning, parental cancer-related emotions, and to evaluate possible associations with the child's quality of life. Methods This cross-sectional study was done in child with cancer aged 0-18 years. Parents completed the validated Indonesian versions of three sets of questionnaires regarding subjects’ quality of life (PedsQL), family function (FACES III), and family cancer-related emotions (SSERQ). Validity and reliability tests were done to assess the Indonesian versions of the questionnaires. Results A total of 269 subjects were recruited. Parental proxy of PedsQL evaluations revealed that the 8-12-year-old age group had significantly lower score than the other groups (P=0.014). Solid tumor subjects had significantly lower PedsQL score compared to subjects with hematological malignancy (P=0.001). The FACES III questionnaire results showed that connected families tended to have better PedsQL score based on children’s evaluation compared to disengaged families (P=0.049). No significant difference was found between adaptability of family function and PedsQL score. The SSERQ revealed significant associations between negative emotions and lower PedsQL scores in the children (all P=0.000). Conclusions Parental proxy of PedsQL scores were significantly lower in older children (8 to 12 years). Children with connected families have significantly higher PedsQL scores than disengaged families, for the PedsQL children’s evaluation. Parents’ emotions (loneliness, helplessness, and uncertainty) experienced by a family member of a child with cancer are also correlated with lower PedsQL scores by both evaluations.
Bleeding outcomes and musculoskeletal function in adolescents having severe hemophilia A: a case series Primacakti, Fitri; Prasetyo, Marcel; Fauzia, Sri Novia; Sarita, Raisa Cecilia; Chozie, Novie Amelia
Paediatrica Indonesiana Vol. 65 No. 3 (2025): May 2025
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi65.3.2025.268-72

Abstract

As an emerging country, Indonesia is still in the process of implementing prophylaxis as a standard of care for managing hemophilia with limited real-world evidence in Indonesian patients. This case series details the effects of tertiary prophylaxis with an intermediate dose of factor VIII concentrate on bleeding outcomes and musculoskeletal function in three Indonesian adolescents suffering from severe haemophilia A and associated arthropathy.
Pengetahuan Tenaga Kesehatan Mengenai Diagnosis dan Tata Laksana Hemofilia: Studi Analisis Pra-Pasca Sesi Edukasi pada Delapan Provinsi di Indonesia Chozie, Novie Amelia; Primacakti, Fitri; Sarita, Raisa Cecilia; Gatot, Djajadiman; Abigail, Dina Clarisa Rumora; Atmakusuma, Tubagus Djumhana
Sari Pediatri Vol 27, No 3 (2025)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/sp27.3.2025.187-92

Abstract

Latar belakang. Tingkat pengetahuan tenaga kesehatan (nakes) memiliki peranan penting dalam diagnosis dan penanganan hemofilia, terutama dokter umum sebagai tenaga kesehatan lini pertama. Maka dari itu, kami mengadakan sesi edukasi untuk nakes mengenai manajemen dan diagnosis hemofilia. Tujuan. Studi ini bertujuan untuk menganalisis dampak sesi edukasi bagi pengetahuan nakes terhadap diagnosis dan tata laksana hemofilia di delapan provinsi di Indonesia.Metode. Studi ini menggunakan desain potong-lintang, deskriptif, analisis data sekunder dari kuesioner terstruktur, yang diisi secara mandiri sebelum (pra) dan sesudah (pasca) sesi edukasi, berisikan pilihan ganda berjumlah 8 soal berkaitan dengan pengetahuan dasar hemofilia untuk menemukan dampak sesi edukasi. Analisis data menggunakan Tes Wilcoxon.Hasil. Total partisipan sesi edukasi berjumlah 1231 dengan 983 mengisi data diri lengkap dan 565 memenuhi kriteria inklusi. Mayoritas dari partisipan yang memenuhi kriteria adalah dokter umum (46,7%) diikuti dokter anak (9,2%), dan dokter penyakit dalam (3,4%). Hasil tes pra dan pasca sesi edukasi dilakukan analisis. Skor median untuk tes pra-sesi adalah 5 (0-8) dan pasca-sesi adalah 7 (3-8). Hasil dari Tes Wilcoxon didapatkan p<0,0001.Kesimpulan. Perbaikan skor setelah sesi edukasi menunjukkan peningkatan pengetahuan yang signifikan pada nakes mengenai hemofilia, yang dapat berkontribusi pada diagnosis dan tata laksana hemofilia di Indonesia.
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

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 Abigail, Dina Clarisa Rumora Arafah, Nurani Rahma Asa, Annisa Aditya Atmakusuma, Tubagus Djumhana Bidasari Lubis Candini, Naura Anindya Damayanti R. Sjarif Damayanti Rusli Sjarif Djajadiman Gatot Fathinasari, Anisa Dwi Fauzia, Sri Novia Joedo Prihartono Marcel Prasetyo Murti Andriastuti, Murti Novie Amelia Chozie Pustika Amalia Wahidiyat, Pustika Amalia Ramadhani, Nadhifa Tazkia Salsabila, Khansa Salsabila, Sheila Claudhea Sarita, Raisa Cecilia Sukartini, Ninik