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All Journal Majalah Kedokteran Andalas PHARMACOLOGY, MEDICAL REPORTS, ORTHOPEDIC, AND ILLNESS DETAILS (COMORBID)
Supriyadi, Fauzia Latifah
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Biochemistry, Genetics & Molecular Biology Health Professions Medicine & Pharmacology Neuroscience Nursing Public Health

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GENE EXPRESSIONS IN THE INCIDENCE OF NON-SYNDROMIC CLEFT LIP AND PALATE Al Hafiz, Al Hafiz; Supriyadi, Fauzia Latifah; Raymond, Benni
PHARMACOLOGY, MEDICAL REPORTS, ORTHOPEDIC, AND ILLNESS DETAILS Vol. 3 No. 3 (2024): JULY
Publisher : Transpublika Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55047/comorbid.v3i3.1656

Abstract

The cleft lip and aisle (CL/P) are a craniofacial malformation caused by genetic mutations, environmental factors, or an interaction between the two. The development of the lip and auricle involves morphogenesis, molecular signaling pathways, mesenchymal-epithelial interactions, and auricle fusion. CL/P events involve initiation, growth, morphogenesis, and auctioning fusion. The Genome-Wide Association Study (GWAS) identified genes and loci associated with non-syndromic CL/P into 43 types significantly associated with single nucleotide polymorphism (SNP) near the gene. This systematic review aims to explore the genetic underpinnings of CL/P by analyzing findings from Genome-Wide Association Studies (GWAS) and identifying key genes and molecular pathways involved in palatogenesis. The most significant genes and loci in non-syndromic CL/P were Interferon regulatory factor 6 (IRF6), MAF bZIP transcription factor B (MAFB), Paired Box 7 (PAX7), Forkhead Box E1 (FOXE1), Msh Homeobox 1 (MSX1), T-box transcription factor 22 (TBX22), and Methylenetetrahydrofolate reductase (MTHFR). Genetic factors play an essential role in the pathogenesis of non-syndromic CL/P, including disruption of signaling pathways. IRF6, MAFB, PAX7, FOXE1, MSX1, TBX22, and MTHFR are genes that play a role in palatogenesis. Mutations in these genes have an impact on orofacial development.
Tatalaksana Papillary Thyroid Carcinoma dengan Ismolobektomi Supriyadi, Fauzia Latifah
Majalah Kedokteran Andalas Vol. 48 No. 3 (2025): MKA July 2025
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.25077/mka.v48.i3.p355-363.2025

Abstract

Latar Belakang: Pappilary Thyroid Carcinoma (PTC) adalah subtipe kanker tiroid yang paling banyak terjadi. Diagnosisnya ditegakkan berdasarkan anamnesis, pemeriksaan fisik, pemeriksaan penunjang seperti pemeriksaan fungsi tiroid, ultrasonography tiroid dan Biopsi Aspirasi Jarum Halus (BAJAH). Pembedahan merupakan penatalaksanaan utama pada PTC.  Laporan Kasus: Dilaporkan satu kasus nodul tiroid pada seorang laki-laki usia 41 tahun. Pasien datang dengan keluhan benjolan di leher depan sisi kanan sejak 2 tahun yang membesar secara lambat dan tidak nyeri. Pada pasien dilakukan dilakukan ismolobektomi dextra dengan hasil histopatologi pasca operasi disimpulkan suatu PTC. Pasien didiagnosis dengan intermediate risk papillary thyroid carcinoma stadium I (T3N0M0). Kesimpulan: Pembedahan merupakan tatalaksana utama pada PTC. Ismolobektomi dipilih sebagai penatalaksanaan berdasarkan stratifikasi risiko pada pasien.Kata kunci: Papillary thyroid carcinoma, Biopsi Aspirasi Jarum Halus, Ismolobektomi
Co-Authors Al Hafiz, Al Hafiz Raymond, Benni