Background: It is estimated that more than 50% of patients with voice disorders who come fortreatment are caused by laryngopharyngeal reflux (LPR). LPR has been implicated in the etiology ofmany laryngeal disorders including subglottic stenosis, laryngeal carcinoma, laryngeal contact ulcer,laryngospasm and vocal nodule on the vocal cords. Ambulatory 24 hour double-probe (pharyngeal andesophageal) pH monitoring is the gold standard examination for diagnosing LPR, but it is still far fromideal criteria.The assessment of pepsin in airway secretions could be used as a sensitive diagnosticmarker of LPR because pepsin is not synthesized by any type of airway cells. Purpose: The aim ofthis study was to detect the presence of pepsin on laryingopharyngeal reflux patients which diagnosedbased on reflux symptom index (RSI) dan reflux finding score (RFS) at Wahidin Sudirohusodo Hospital,Makassar. Methods: This is a comparative quantitative study. We performed RSI and RFS examinationson 51 samples, followed by saliva pepsin detection using ELISA method on 48 samples, then analyzed withSpearman’s Rho test. Result: RSI score >13 was found in 48 samples (94,12%) and RFS score >7 wasin 51 samples (100%). Pepsin was detected on all sputum samples, however there was no significant relationship betwen RSI and RFS scoring with the level of pepsin in saliva (p>0.01). Conclusion: Pepsin was detected on saliva of patients with laringopharyngeal reflux who was diagnosed based on RSI andRFS. We concluded that RSI and RFS can be used as diagnostic tools for LPR. Keywords: laringopharyngeal reflux, reflux symptom index, reflux finding score, pepsin Abstrak : Latar belakang: Diperkirakan lebih dari 50% pasien dengan gangguan suara yang datang berobatke dokter THT diakibatkan oleh refluks laringofaring (RLF). Diduga RLF berperan pada patogenesissejumlah kelainan pada laring, termasuk stenosis subglotik, karsinoma laring, laryngeal contact ulcers,laringospasme dan vokal nodul pada pita suara. Pemeriksaan ambulatory 24 hour double-probe pHmonitoring merupakan gold standard untuk mendiagnosis RLF, namun pemeriksaan ini masih jauh darikriteria ideal. Menentukan adanya pepsin pada sekret saluran napas merupakan petanda diagnostik yangsensitif untuk RLF karena pepsin tidak dihasilkan oleh sel apapun dalam saluran napas. Tujuan: Penelitianini bertujuan mendeteksi keberadaan pepsin pada penderita refluks laringofaring yang didiagnosisberdasarkan refluks symptom index (RSI) dan reflux finding score (RFS). Metode: Jenis penelitian iniadalah komparatif kuantitatif. Dilakukan pemeriksaan RSI dan RFS pada 51 percontoh dan dilanjutkandengan pemeriksaan pepsin saliva menggunakan metode ELISA pada 48 percontoh lalu dilakukan ujiSpearman’s Rho. Hasil: Skor RSI >13 sebanyak 48 percontoh (94,12%) dan skor RFS >7 sebanyak 51percontoh (100%). Pepsin terdeteksi pada saliva semua percontoh. Tidak ada hubungan yang bermaknaantara skoring RSI dan RFS dengan kadar pepsin pada saliva (p>0,01). Kesimpulan: RSI dan RFS dapatdigunakan dalam menegakkan diagnosis RLF. Kata kunci: refluks laringofaring, reflux symptom index, reflux finding score, pepsin
BACKGROUND: Nasopharyngeal cancer (NPC) is known to release a specific exosome. NPC-derived exosome (NPC-Exo) could carry p53. However, information regarding the type of p53 carrier on NPC-Exo remains limited. This study aims to introduce our important findings regarding the type of p53 NPC-Exo cargo.METHODS: Serum from patients with NPC were prepared for exosome isolation with Seramir Exoquick by following the manual instructions. RT-PCR was conducted to determine the expression levels of latent membrane protein 1 (LMP-1) and p53 in the exosome isolate. Partial sequencing of p53 amplicon was conducted to determine mutation type of p53.RESULTS: There were 8 patients enrolled in this study. According to RT-PCR results, the expression levels of LMP-1 and p53 varied in the NPC-Exo isolate. Based on sequencing analysis, 1 case of p53 mutation was noticeable.CONCLUSION: According to current results, the NPC-derived exosome potentially carries not only wild type but also mutant type p53. Further research is needed to explore deeper the effect of the mutant type p53 as an exosome carrier in the clinical application.KEYWORDS: Nasopharyngeal cancer, exosome, p53, mutation
Background: Inherited hearing impairment affects about 1 in 1000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in many populations have mutations in the gene encoding the gap junction protein connexin 26 (GJB2) at locus DFNB1 (autosomal recessive nonsyndromic deafness) on chromosome 13q11-12. In East Asia, there is a common mutation (235delC) of connexin 26 (GJB2) gene mutation, and a common GJB2 gene mutation (V37I) in Singapore and Malaysia with congenital deafness. No connexin 26 gene study was done in Indonesia. In this preliminary study, we analyzed 40 Indonesian patients with prelingual nonsyndromic sensorineural hearing loss. Objective: To detect the common frameshift mutation (235delC) of connexin 26 (GJB2) gene in Indonesian patients by using the PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) analysis. Materials and Methods: Forty patients with prelingual nonsyndromic sensorineural hearing loss in Makassar Indonesia were identified and genomic DNAs were extracted from peripheral leukocyte blood of each subject. The important region for connexon-connexon interaction of GJB2 gene in the exon 2 was amplified by using PCR. RFLP analysis (ApaI enzyme) was performed to detect the 235delC mutation in all subjects. Result: The target fragment (722bp) of exon 2 in 40 subjects of prelingual nonsyndromic sensorineural hearing loss were amplified by using PCR method. No 235delC mutation of connexin 26 (GJB2) gene was identified in our RFLP (ApaI enzyme) analysis. Conclusion: No 235delC of connexin 26 (GJB2) gene mutation was found in our preliminary study in 40 Indonesian patients with prelingual nonsyndromic sensorineural hearing loss.
Open access: www.balimedicaljournal.org and ojs.unud.ac.id/index.php/bmj
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