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Syafril Syahbuddin
Dr M Djamil Hospital, Padang
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Public Health

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Marine-Lenhart Syndrome: Current Perspectives on Diagnosis and Management Kam, Alexander; Pradwi Efendi, Yanne; Aprilia, Dinda; Decroli, Eva; Syahbuddin, Syafril; Berlian Hemilton, Suci
Scientific Journal Vol. 4 No. 5 (2025): SCIENA Volume IV No 5, September 2025
Publisher : CV. AKBAR PUTRA MANDIRI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.56260/sciena.v4i5.264

Abstract

Marine-Lenhart syndrome (MLS) is an uncommon disorder characterised by the concurrent presence of Graves’ disease and hyperfunctioning thyroid nodules. Its global prevalence ranges between 2.7- 4.1% of Graves’ disease cases, presenting significant challenges in diagnosis and management. MLS is often difficult to detect due to limitations in autoimmune serology tests, thyroid ultrasonography, and access to nuclear medicine facilities. Diagnosis relies on a combination of clinical hyperthyroidism symptoms, the presence of specific thyroid antibodies, and scintigraphy findings that reveal "hot" or "cold" nodules. The primary therapeutic options for MLS include antithyroid drugs, radioactive iodine (RAI) therapy, and surgery. RAI is commonly employed as definitive treatment, often requiring higher doses to address the resistance of hyperfunctioning nodules. Surgery is indicated in cases involving large nodules, compressive symptoms, or suspected malignancies. Treatment strategies should be tailored to the individual clinical characteristics of each patient to minimize complications and ensure optimal outcomes. Advancing the diagnosis and management of MLS requires enhanced access to advanced diagnostic technologies and improved healthcare provider proficiency in identifying and treating the syndrome. A multidisciplinary and integrated approach is essential for achieving favorable clinical outcomes for MLS patients.
The Role of Genomic Sequencing in Diabetes Mellitus Pradwi Efendi, Yanne; Kam, Alexander; Decroli, Eva; Aprilia, Dinda; Syahbuddin, Syafril
Scientific Journal Vol. 4 No. 5 (2025): SCIENA Volume IV No 5, September 2025
Publisher : CV. AKBAR PUTRA MANDIRI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.56260/sciena.v4i5.279

Abstract

Diabetes Mellitus is a chronic metabolic disorder caused by impaired insulin secretion and/or insulin resistance. Genetic testing through genomic sequencing is one of the modalities available for diabetes mellitus. Genomic sequencing is the process of analysing DNA obtained from a blood sample (or alternatively from tissue samples). Broadly, genomic sequencing plays two major roles in diabetes mellitus: supporting diagnosis and guiding therapeutic approaches. In its development, genomic sequencing has proven valuable for diagnostic investigation in type 1 diabetes and maturity-onset diabetes of the young (MODY), as well as for assessing the polygenic risk score (PRS) in type 2 diabetes. Establishing a definitive diagnosis allows for the selection of individualised therapy. Several randomised controlled trials have demonstrated that the risk of developing diabetes can be reduced by up to half if detected at an earlier stage. Moreover, genomic sequencing can identify genetic variants that influence responsiveness to antidiabetic treatments. At present, several potential antidiabetic agents targeting novel pathways are under development and in various stages of clinical trials. The application of genomic sequencing thus facilitates the implementation of individualised therapy, ultimately contributing to the realisation of precision medicine.
Co-Authors Aprilia, Dinda Asman Manaf Berlian Hemilton, Suci Eva Decroli Kam, Alexander Pradwi Efendi, Yanne