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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.
Pengaruh Penerapan Pendekatan Saintifik Melalui Model Discovery Learning Terhadap Hasil Belajar IPA Linda Pratiwi
Social, Humanities, and Educational Studies (SHES): Conference Series Vol 3, No 4 (2020): Social, Humanities, and Educational Studies (SHEs): Conference Series
Publisher : Universitas Sebelas Maret

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (212.768 KB) | DOI: 10.20961/shes.v3i4.53302

Abstract

This research started with doubts whether the application of the scientific approach through the Discovery Learning model in science learning in elementary schools was appropriate. The research conducted is experimental research with the type of Quasi Experimental Design, while the research design used in this study is non equivalent control group design.  Based on the results of the study, it can be seen from the analysis using the Independent Sample Test. From the results of the Independent Sample t-Test test for the Equal variance assumed column, it was obtained that the t-count coefficient was 2.672 with a significance value in the Sig (2-tailed) column of 0.01. 87.7273 and for the control class of 80.88 with the average difference in learning outcomes is 6.8472. These results indicate that there is a significant difference in influence between learning with a scientific approach through Discovery Learning and PBL in science subjects.