Purpose: Hereditary hearing loss is associated with several mutated genes; among them mutant GJB2 is the main cause. We conduct this study to provide initial information about types, rates, and influences of mutations in Vietnamese patients.

Patients and Methods: Genomic DNA is extracted from peripheral blood samples of 96 childhood patients and 100 healthy control subjects. Primers are designed to amplify GJB2 gene, encoding Cx26 protein, followed by detecting mutations with Sanger sequencing technology.

Results: Exon 2 of GJB2 gene was sequenced from all 96 samples. We detected 9 variants of GJB2 gene from 56 patients (c.235delC, c.299_300delAT, c.634T>A, c.79G>A, c.608T>C, c.368C>A, c.11G>A, c.341A>G and c.109G>A). Of which, c.634T>A is a novel variant expected to be a causing disease mutation. Variants detected in 56 cases create 14 genotypes, including 2 causing disease genotypes (c.235delC and c.79G>A / c.299_300delAT), 7 genotypes with controversial role in disease (c.109G>A; c.11G>A; c.109G>A / c.341A>G; c.109G>A / c.608T>C; c.109G>A / c.634T>A; c.79G>A / c.109G>A / c.341A>G and c.79G>A / c.341A>G / c.368C>A), and 5 genotypes containing benign single nucleotide polymorphisms (c.79G>A; c.608T>C; c.79G>A / c.341A>G; c.79G>A / c.368C>A and c.79G>A / c.341A>G / c.368C>A).

Conclusion: We have detected the types and rate of mutations appearing on protein coding region of GJB2 gene from 96 Non-Syndromic Hearing Loss children. Most of the mutations are missense heterozygous or compound heterozygous and under controversy. We suspect that in Vietnamese population, hereditary hearing loss might be caused by interaction between disturbance of GJB2 and other genes such as GJB6, SLC26A4 or 12S rRNA on mitochondria. Next generation sequencing should be use to clarify multigenic defects of hereditary hearing loss in Vietnamese children.

Introduction: Thyroid nodule is a common clinical finding. Ultrasound (US) and Fine-needle Aspiration (FNA) are the main methods used for investigating thyroid nodules, with questionable predictive values in Multinodular Goiter (MNG) compared to Solitary Thyroid Nodule (STN) due to the presence of multinodularity.

Objective: The present study was conducted to detect the independent predictors of malignancy in patients with MNG.

Patients & Methods: Medical records of patients who were admitted for thyroidectomy at Alexandria Main University Hospital and Medical Research Institute Hospital between January 2013 and January 2016 were reviewed. Demographic and clinical data, US reports, FNA reports, and final histopathological results were recorded and analyzed by univariate and multivariate analysis. Patients with a STN, hyper- or hypo-thyroidism, previous history of surgery for thyroid cancer or those with incomplete data were excluded.

Results: Reports of 1014 patients were reviewed, 419 patients with euthyroid MNG were included in the study. Malignancy rate was 19.3% (81/419). Micro-calcification, solid consistency, ill-defined margins, and presence of suspicious cervical lymph nodes by US were statistically significant predictors. Rate of malignancy in Bethesda II was 8.9% (false negative). Malignant rate increased with increasing in Bethesda rating from Bethesda IV (17.4%) to Bethesda V (51.7%), and lastly Bethesda VI (90.9%). Multivariate analysis revealed that micro-calcifications, suspicious cervical lymph nodes and Bethesda VI FNA were the independent predictors of malignancy. Other malignancy predictors that were only significant by univariate analysis were solid component of the nodule, and ill-defined margins.

Conclusion: Based on the data presented, it may be concluded that the independent predictors of malignancy in patients with MNG were US findings of micro-calcifications and suspicious cervical LNs as well as Bethesda VI on FNA