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All Journal Sari Pediatri Paediatrica Indonesiana Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research Arkus
Aditiawati Aditiawati
Bagian Ilmu Kesehatan Anak Fakultas Kedokteran Universitas Sriwijaya/RSUP Dr. Mohammad Hoesin, Palembang
Religion Humanities Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Law, Crime, Criminology & Criminal Justice Medicine & Pharmacology Neuroscience Social Sciences

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Polymorphisms associated with type 1 diabetes mellitus Rachman Indra Jaya; Yenni Riska Zettyana; Achirul Bakri; Yuwono Yuwono; Aditiawati Aditiawati
Paediatrica Indonesiana Vol 58 No 6 (2018): November 2018
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (506.876 KB) | DOI: 10.14238/pi58.6.2018.274-9

Abstract

Background Type 1 diabetes mellitus (T1DM) is an organ-specific autoimmune disease characterized by T cell-mediated destruction of pancreatic islets. The genetic factors involved consist of at least five vulnerability genes: HLA, INS, CTLA-4, PTPN22, and IL2RA/CD25. Objective To investigate for associations of PTPN22-1123 G>C SNP and CTLA-4 +49A/G polymorphisms with T1DM. Methods Case and control groups underwent CTLA-4 +49A/G gene examination from June to December 2017, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Results The study population consisted of 30 T1DM patients and 30 healthy subjects with no family history of diabetes or autoimmune diseases. With regards to the PTPN22-1123 G>C SNP, significantly more subjects with T1DM had the GC genotype than the GG genotype (OR 7.64; 95%CI 1.48 to 39.29; P=0.007). For the CTLA-4 +49A/G polymorphism, although the total number of G alleles in the case group was more than that of the control group (OR 2.286; 95%CI 0.804 to 6.945; P=0.118), there were no significant relationships between the frequency of G alleles (P=0.248) and genotypes GG or AG (P=0.293) with the incidence of T1DM. However, the PTPN22-1123 G>C SNP had a significantly positive association with T1DM, and may be considered as a risk factor for T1DM. In contrast, the CTLA-4 +49A/G polymorphism was not recognized as a risk susceptibility factor for T1DM. Conclusion These study confirms an association between PTPN22-1123 G>C SNP and T1DM, but no significant association between CTLA-4 +49A/G polymorphism and T1DM.
Serum ferritin levels and endocrine disorders in children with thalassemia major Evi Dewiyanti; Aditiawati Aditiawati; Dian Puspita Sari
Paediatrica Indonesiana Vol 61 No 3 (2021): May 2021
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi61.3.2021.125-32

Abstract

Background Endocrine disorders in thalassemia major children patients occur due to iron overload and hemosiderosis in endocrine organs. Early detection is needed to prevent complications and improve the quality of life. An association between serum ferritin and endocrine disorders in thalassemia patients has been inconclusive to date. Objective To analyze for possible associations between serum ferritin and endocrine disorders (short stature, delayed puberty, delayed bone age, hypothyroidism, impaired glucose tolerance, and diabetes mellitus) and the incidence of each disorder in thalassemia major. Methods There were 115 thalassemia major patients aged 10-18 years involved in our cross-sectional study from June 2019 - June 2020 in the Pediatrics Department, DR. M Hosein Hospital, Palembang, South Sumatera. Anthropometry and socioeconomic status informations were collected from physical examination and interview. Ferritin, FT4, TSH, Hb and glucose levels measured by using standard methods for each item in the laboratory, mean while the skeletal age assessment was determined by using FELS method. Results This study included 83 (72.2%) girls and 32 (27.8%) boys. There were 89 (77.4%) subjects with short stature, 74 (64.4%) with delayed bone age, 30 (26.1%) with impaired glucose tolerance, 25 (21.7%) with delayed puberty, 4 (3.5%) with diabetes mellitus (DM), and none with hypothyroidism. Bivariate and multivariate analyses revealed no associations between serum ferritin and short stature, delayed bone age, impaired glucose tolerance, delayed puberty, and DM. Conclusion There is a high prevalence of endocrine disorders in pediatric thalassemia patients, especially short stature and delayed bone age. However, there are no associations between serum ferritin and endocrine disorders in these patients.
Disorder of Sex Development, Mosaic Genetic Disorder 45x, 46xy: A Case Report Awan Nurtjahyo; Asep Nurul Huda; A. Abadi; Aditiawati; Yulisnawati H; Fadil P
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 6 No. 2 (2022): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v6i2.449

Abstract

Background. Disorder of sex development (DSD) is a congenital disorder associated with interference in chromosomes, gonads, or sexes anatomically. Individual affected with DSD can be recognized since birth due to external genital ambiguity. Sexual chromosome DSD occurred because sexual chromosome numeric or structural disorder. Mosaic karyotype 45X/46XY is among the rare sexual chromosome DSD with incidence less than 1:15,000 live births. DSD individuals are susceptible to stigmatization. This can cause stress, negative emotion, and social isolation. Therefore, DSD individual management should be done as optimal as possible. Case Presentation: Twelve years old girl complaining a bump arose from anterior side of her genital resembles male genital since 4 years prior to admission without micturition and defecation complains. Patient has not experienced menarche. On external genital examination, we found the normal female external genital such as mons pubis, pubic hair, labia majora, labia minora, hymen, perineum, but without clitoris which in this case it is replaced by a glans of penis, arising from anterior commissure of labia majora area, with an urethral estuary. Before the management is done, patient underwent multidiscipline consultations and further examinations. Subsequently, it was approved that the joint conference formation consisting obstetric and gynecology, urologist, and pediatric endocrinologist to determine the optimal management for the patient. Conclusion: In this case, diagnosis was made with history taking, clinical examination, and supporting investigation such as ultrasound imaging and could be followed by biochemistry test, voiding cystourethrography or genitogram to determine next management. Counseling should be done in detail towards the family to know what action is best for the patient. Multidiscipline team was required to get the optimum result either in medical, ethical, or religious point of view. Surgery in this case was considered followed by long term therapy afterwards.
Co-Authors A. Abadi Abdi Wijaya Achirul Bakri Arinta Atmasari Asep Nurul Huda Awan Nurtjahyo Dewi Rosariah Ayu Dian Puspita Sari Edy K. Ginting Eka Intan Fitriania Erial Bahar Evi Dewiyanti Fadil P Hertanti Indah Lestari Irfanuddin Irfanuddin Julianti Julianti Julius Anzar Masagus Irsan Saleh Masayu Rita Dewi Minerva Riani Kadir Muhammad Irsan Saleh Rachman Indra Jaya Sheila Noberta Silvia Triratna Silvia Triratna Syarif Husin Yenni Riska Zettyana Yulisnawati H Yuwono Yuwono