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All Journal Journal of the Medical Sciences (Berkala Ilmu Kedokteran) The Indonesian Biomedical Journal Paediatrica Indonesiana
Irianiwati Widodo
Department Of Anatomical Pathology, Faculty Of Medicine, Public Health And Nursing, Universitas Gadjah Mada/Dr Sardjito Hospital, Jl. Farmako, Sekip Utara, Yogyakarta
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Public Health

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Clinicopathologic and molecular profiles of Duchenne and Becker muscular dystrophy Ery Kus Dwianingsih; Meydita Fuzia Putri Insani; Linda Pratiwi; Irianiwati Widodo; Rusdy Ghazali Malueka
Paediatrica Indonesiana Vol 59 No 5 (2019): September 2019
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (1020.671 KB) | DOI: 10.14238/pi59.5.2019.257-64

Abstract

Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic X-linked recessive diseases caused by mutations in the dystrophin (DMD) gene. To our knowledge, molecular analysis to differentiate between DMD and BMD has never been performed in Indonesia. Objective To elaborate the clinicopathologic and molecular profiles of DMD/BMD patients in Yogyakarta, Indonesia. Methods Eighteen muscle biopsy specimens of patients clinically suspected to have DMD/BMD were collected. Possible associations of clinical manifestations, histopathological grading, and immunohistochemistry (IHC) results were analyzed. Polymerase chain reaction (PCR) was performed to identify mutations in exon 52. Results. Positive Gower’s sign and high serum creatine kinase (CK) were observed in most patients. The IHC of dystrophin in two female patients suggested that they were manifesting carriers. Of the 16 male patients, 12 showed negative IHC staining, indicating DMD, while 4 patients demonstrated weak expression of dystrophin, indicating BMD. There was a significant association between high CK level and IHC results (P=0.005), indicating higher CK level in DMD patients. Histopathological grading of muscle biopsy was significantly associated with diagnosis of DMD/BMD using IHC (P=0.01), showing more severe tissue damage in DMD patients. None of the subjects had the single exon 52 deletion. Conclusion This is the first report of a clinicopathologic and molecular profile of DMD/BMD in an Indonesian population. Serum CK level and histopathological grading of muscle biopsy are useful in distinguishing DMD from BMD in settings where an IHC assay is not available.
Role of Estrogen Receptor Alpha rs3798577 Polymorphism in Breast Carcinoma Risk Determination Pieri Kumaladewi; Wirsma Arif Harahap; Bastian Nova; Irianiwati Widodo; Ramadhan Karsono; Ferry Sandra; Bethy Suryawathy Hernowo
The Indonesian Biomedical Journal Vol 14, No 4 (2022)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v14i4.2002

Abstract

BACKGROUND: Interaction between estrogen and estrogen receptor (ER) takes part in the regulation and differentiation of breast tumorigenesis. Some ERα polymorphisms, including ERα rs3798577, are reported to be associated with the risk and aggressiveness of breast carcinoma since the site was reported to be targeted by microRNA, which can further modulate the ERα expression. Hence, this study was conducted to disclose the possible role of ERα SNP rs3798577 on breast carcinoma patients.METHODS: Samples were taken from the post-mastectomy breast carcinoma tissues of female patients and screened based on the completeness of medical and histopathological records. DNA isolation was proceeded using real time-polymerase chain reaction (RT-PCR) then analyzed for high resolution melting (HRM). The nucleotide base sequence was then analyzed based on rs3798577 ERα polymorphism. ER immunohistochemistry test was carried out and counted quantitatively based on the staining intensity and the percentage of the stained cells.RESULTS: Out of 65 samples, there were 33 samples as wild type and 32 samples as variant type. Most variant and wild type had >80% ERα percentage. Most variant type had middle ERα intensity, while wild type had strong ERα intensity. Higher percentage of variant type (52.2%) was found with weak ERα histoscore, meanwhile higher percentage of wild type (52.4%) was found with strong ERα histoscore, but not significant (p=0.725).CONCLUSION: ERα rs3798577 variant type had a lower ERα intensity and weaker ERα histoscore compared to the wild type, suggesting that ERα rs3798577 polymorphism might play a role in breast carcinoma risk determination.KEYWORDS: breast cancer, ERα, rs3798577, polymorphism, immunoexpression
Co-Authors . Harjadi Ahmad Ghozali Bastian Nova Bethy Suryawathy Hernowo Bob Irsan Bustanul Ardianto Camelia Herdini Dewajani Purnomosari Dian Caturini Sulistyoningrum Didik Setyo Heiyanto Didik Setyo Heriyanto Emilia Theresia Ery Kus Dwianingsih Ferry Sandra Fikar Arsyad Hakim Heru Pradjatmo Ibnu Purwanto idha safitri Iwan Dwiprahasto Linda Pratiwi Meydita Fuzia Putri Insani Moh Nailul Fahmi Naomi Yoshuantari Novan Adi Setyawan Novrita Padauleng Pieri Kumaladewi Rahadyan Magetsari Ramadhan Karsono Rusdy Ghazali Malueka Sagung Rai Indrasari Sakti, Yudha Mathan Sitarina Widyarini Soeripto Soeripto Sofia Mubarika Haryana Sri Herwiyanti, Sri Teguh Aryandono Ulfah Dian Indrayani Wahyu Tri Widayati Wahyu Tri Widayati Wirsma Arif Harahap Yuni Artha Prabowo Putro