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All Journal Medical Journal of Indonesia Indonesian Journal of Urology Indonesian Journal of Cancer Paediatrica Indonesiana Indonesian Journal of Obstetrics & Gynecology Science Oto Rhino Laryngologica Indonesiana Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia Narra J Cermin Dunia Kedokteran Indonesian Journal of Cancer Makara Journal of Health Research IJRETINA - International Journal of Retina Neurona Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education and Research Institute
Joedo Prihartono
Department of Community Medicine, Faculty of Medicine, Universitas Indonesia, Jakarta
Biochemistry, Genetics & Molecular Biology Education Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Public Health

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Non-Severe Preeclampsia and Subclinical Inflammation: A Study of Cyclophilin A, NF-κB, PARP- 1, and Apoptosis in Human Placentas Resistantie, Novi; Wibowo, Noroyono; Prasmusinto, Damar; Jusman, Sri Widia Azraki; Yamin, Muhammad; Siregar, Nurjati Chairani; Prihartono, Joedo; Mose, Johannes Cornelius; Suhendro, Suhendro; Yunita, Ferdiana; Rosmanah, Lis; Margyaningsih, Nur Ita; Qotrunnada, Labibah; Roviqoh, Cindy Fawwaz; Rauf, Saidah
Indonesian Journal of Obstetrics & Gynecology Science Volume 8 Nomor 3 November 2025
Publisher : Dep/SMF Obstetri & Ginekologi Fakultas Kedokteran Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/obgynia.v8i3.947

Abstract

Objective: To compare the expression of CyP-A, NF-κB, PARP-1, and apoptotic index in Non-Severe Preeclampsia (NS-PE) and Normal Pregnancy (NP) and explore their roles in inflammation during preeclampsia.Methods: Conducted in Depok, Indonesia, the cross-sectional study involved 28 participants divided into NS-PE and NP groups based on ISSHP criteria. NP was defined as uncomplicated pregnancies at 38–40 weeks gestation. Placental weight was measured, and ELISA was used to assess biomolecule levels. Data were analyzed using T-tests or Mann-Whitney tests.Result: Maternal gestational age, body mass index, and leukocyte levels were significantly higher in NS-PE. The apoptotic index, measured by TUNEL assay, was also significantly elevated in NS-PE (41.56 ±24.87) compared to NP (23.96 ±18.79; p = 0.044). While CyP-A, PARP-1, and NF-κB levels were higher in NS-PE eventhough they were not statistically significant. Immunohistochemistry confirmed an overall increase in these molecules, supporting their clinical relevance.Conclusion: Despite the lack of statistical significance, increased inflammation and apoptosis in NS-PE may contribute to placental dysfunction and adverse pregnancy outcomes.Non-Severe Preeclampsia dan Inflamasi Subklinis: Studi CyP-A, NF-κB, PARP-1, dan Apoptosis pada Plasenta ManusiaAbstrak Tujuan: Penelitian ini bertujuan untuk mengetahui perbedaan ekspresi CyP-A, NF-κB, PARP-1, dan indeks apoptosis antara preeklamsia non-severe (NS-PE) dan kehamilan normal (NP), serta perannya dalam proses inflamasi pada preeklamsia.Metode: Metode penelitian yang digunakan dalam penelitian ini adalah cross-sectional. Penelitian ini dilakukan di Depok, Indonesia, dengan 28 partisipan yang dikelompokkan menjadi NS-PE dan NP berdasarkan kriteria ISSHP. Berat plasenta diukur dan kadar biomolekul dianalisis menggunakan ELISA. Uji T dan alternatif Mann-Whitney digunakan untuk analisis statistik.Hasil: Hasil penelitian menunjukkan bahwa usia kehamilan, indeks massa tubuh (IMT), dan kadar leukosit secara signifikan lebih tinggi pada NS-PE. Indeks apoptosis (TUNEL) juga lebih tinggi secara signifikan pada NS-PE (41,56 ±24,87) dibandingkan NP (23,96 ±18,79; p = 0,044). Kadar CyP-A, PARP-1, dan NF-κB lebih tinggi pada NS-PE meskipun tidak signifikan secara statistik, pemeriksaan IHK mengonfirmasi relevansi klinis peningkatan pada keseluruhan biomolekul tersebut. Kesimpulan: Meskipun signifikansi statistik rendah, peningkatan peradangan dan apoptosis pada NS-PE dapat menyebabkan disfungsi plasenta dan dampak buruk pada kehamilan.Kata kunci: Apoptosis; inflamasi; preeklamsia.
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 -, Lisnawati A Kusumawardhani, A Kusumawardhani Abidin Widjanarko Achmad Tjarta Afifi, Rahmi Alida Harahap Amalia W, Pustika Amalia, Ginva Amelia, Yustie Amelia, Yustie Anak Agung Istri Sri Wiadnyani Andi A. Victor Andreas Christian Andrijono Arief, Wresty Ariyati, Ira Arman Muchtar Arman Mukhtar Asmarinah Asmarinah Averdi Roezin Azhariya, Rachmawati Ayu Aziza Icksan Bambang Supriyatno Bernie Endyarni Medise Bidasari Lubis Biddulth Sujana, Biddulth Billy, Christy Amanda Budi Iman Santoso Budi Wiweko Budianto Komari, Budianto Candini, Naura Anindya Damar Prasmusinto Damayanti R. Sjarif Damayanti Rusli Sjarif Damayanti Sekarsari Darmiati, Sawitri Deddy Hermawan, Deddy Diani Kartini Didid Tjindarbumi Djajadiman Gatot Djatikusumo, Ari Djer, Mulyadi Muhammad Drupadi Dillon Drupadi S. Dillon Elfahmi, Khalida Ikhlasiya Tajdar Gefariena Elida Ilyas Elisna -, Elisna Endang Hardjolukito Endang S. Roostini Endang Windiastuti Ening Krisnuhono Erwinanto Esti Soetrisno Evert D.C. Poetiray Evert Poetiray EVLINA SUZANNA, EVLINA Fachri, Achmad Faisal - Fardizza, Fauziah Fatimah Eliana, Fatimah Fitri Primacakti, Fitri Fitriyadi Kusuma FLORENSA SIHALOHO, FLORENSA Gatot Purwoto Goi Sakamoto Gunawan Tjahjadi Hakim, Manfaluthy Harrina Erlianti Rahardjo, Harrina Erlianti Hellyanti, Tantri Heri Wibowo Heriawaty Hidayat, Heriawaty Herman Cipto Hutabarat, Hernayati I Made Nasar Idral Darwis Idwal Darwis Iik Wilarso Ina S. Timan, Ina S. Indrati Suroyo Iris Rengganis Irwan Ramli Iskandar, Adhi Teguh Perma Jusman, Sri Widia Azraki Kardinah -, Kardinah Kautsar, Ahmad Kenji Wakai Kenzi Wakai Ketut Mulyadi Kusmarinah Bramono Lisnawati Lukman Edwar Lukman H. Makmun M. Kurniawan, M. Madjid, Amir Sjarifuddin Marcel Prasetyo Margyaningsih, Nur Ita Marwali, Muhammad Luky Satria Marwali, Muhammad Luky Satria Masamitsu Ichihashi Masato Ueda Mawardi, Prasetya Minarma Siagian Mochtar Hamzah Mose, Johannes Cornelius Mpu Kanoko Muchlis Ramli Muhammad Ilyas Muhammad Yamin Muslim, Refni Muslim, Refni N. D. Yulisa Nafrialdi Nafrialdi Najib Advani Nakako Kubo Nobuo Munakata Noorwati Sutandyo Noroyono Wibowo Novie Amelia Chozie Nurhadi Ibrahim Nurjati Chairani Siregar Nurul Akbar Olivia P. Perdana, Olivia P. Philip Waruna, Philip Ponco Birowo Pradana Soewondo Pradana Suwondo Pratamisiwi, Rindy Yunita Prawirodihardjo, Bonita Prawirodihardjo, Bonita Priya Darsini, Indira Priyono, Harim Pudjo Astowo, Pudjo Purwita Wijaya Laksmi Pustika Amalia Wahidiyat, Pustika Amalia Qotrunnada, Labibah R. R. Mangunkusumo Rahmad Mulyadi Rahmadhany, Anisa Ramadhani, Nadhifa Tazkia Rauf, Saidah Resistantie, Novi Risma Kerina Kaban, Risma Kerina Rosmanah, Lis Roviqoh, Cindy Fawwaz Rumende, Cleopas M. Sadao Suzuki Safri, Ahmad Yanuar Salim Harris, Salim Salsabila, Sheila Claudhea Sampurna, Kirana Samsuridjal Djauzi Santoso Cornain Santoso, Dewi Irawati Soeria Sekarutami, Sri Mutya SEPTELIA INAWATI WANANDI Septiyanti, Wita Setiawan, Stefanus Imanuel Setiawati Budiningsih Setyawati Budiningsih Setyo Handryastuti Sigit Pribadi Siregar, Trifonia Pingkan Siti Setiati Sonar S. Panigoro Sonar Soni Panigoro Sri M.S. Utami Starry H Rampengan Suhendro Suhendro Suhendro Sukartini, Ninik Surahman Hakim Susilowati Herman Susumu Watanabe Sutjipto, Fiolita Indranita Suyatna, Fransiscus Dhyanagiri Suzanna Immanuel Syntia Nusanti Tabri, Nur A. Telly Kamelia Tetty Yuniati Tirza Z Tamin Tjokorda Gde Dalem Pemayun Virna D. Oktarina, Virna D. Wahyuni, Luh Kurnia Wasilah Rochmah Widjajalaksmi Kusumaningsih, Widjajalaksmi Widya Widya, Widya Wijaya, Ade Wilfried H. Sibuea Windy Keumala Budianti Wiwit Ade Fidiawati Wresti Indriatmi B. Makes Yoshiyuki Ohno Yoshiyuki Ohno Ohno Yudantha, Anggun Rama Yunita, Ferdiana Zizlavsky, Semiramis Zizlavsky, Semiramis