Background: Hearing loss is a leading cause of disability worldwide and it is a significant public health problem.

Objectives: To determine the associated factors of unilateral sensorineural hearing loss among different age groups in Sudanese patients.

Methods: 115 Sudanese patients presented to Khartoum state ENT hospitals complaining of unilateral hearing loss were included.

Results: In this study 115 patients were included. Male to female ratio 1:1.3, 49 patients (42.6%) were from Khartoum state and the rest were from different areas in Sudan. The most frequent age group was from 1-15 years representing (38.3%) with a mean age of 24.48 ± 1.5. The commonest associated factor in this study was mumps and it was found in 47 of patients (40.9%), tinnitus was the commonest presenting symptoms in unilateral Sensorineural hearing loss 81 patients (70.4%) were assessed audiologically with pure tone audiometry and 34 patients (59.1%) assessed by Auditory Brain Stem Response (ABR).

Conclusion: Unilateral Sensorineural hearing loss commonly presents during school-age. Mumps is the most common associated factor. Pure tone audiometry and auditory brain stem response are suitable method for the assessment and the diagnosis.

T he term far-advanced otosclerosis was introduced by House and Sheehy  to indicate clinical otosclerosis with air conduction thresholds of more than 85 dB HL, Theotosclerotic process commonly involves the otic capsule and may cause quite widespread demineralisation which leads to a progressive and often profound bilateral sensorineural hearing loss.

Lobular Capillary Hemangioma (LCH) is a benign proliferation of capillary blood vessels adopting a lobular configuration. A laryngeal origin of LCH is exceedingly rare. Here, we describe a case of an 11-year-old boy presenting with a subglottic lesion, leading to a subglottic stenosis. Histopathologic findings of the lesion implicated an LCH, which was removed successfully by a coblator. This is the first report of a subglottic LCH. Physicians should be aware of this unique lesion and laryngeal LCH should be considered in diagnosing the cause of a subglottic stenosis. Additionally, coblation should be an effective treatment for laryngeal LCH.

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.

Purpose: To detect a de novo paired box gene 3 (PAX3) mutations, mutational analysis, and associated phenotypes in the Vietnamese Children patients with Waardenburg syndrome type I (WS1). We conduct this study to provide initial information about types, rates, and influences of this particular PAX3 mutations gene in the Vietnamese patients.

Patients and Methods: Three unrelated patients with suspected WS1 were selected from our Genomic extraction DNA, probe and sequence the primers, PCR technique. PAX3 were amplified by polymerase chain reaction (PCR), and then amplicons PCR were analyzed by cycle sequencing. Variations were detected, documented and recognized as “de novo” mutation. We also compared the severity of hearing impairment, phenotypically variations among these individual affected patients.

Results: Number variations of mutations in PAX3 were detected in three patients, respectively: c.955delC (Gln319fsX380), c.667C>% (Arg223Stop). One mutation proved to be de novo as their parents did not carry the mutations, and had never been found in any previous study in Vietnam. All three patients with PAX3 mutations had different iris color, fundi between their two eyes, dystopia canthorum and profound hearing loss. We report the phenotypic expression of WS1 in these three patients and explore the implications for possible genotype phenotype correlations. Sensorineural hearing loss was present in 80% of affected individuals, and spectrum of hearing loss with very high frequency.

Conclusion: De novo mutation in PAX3 has not been reported in Vietnam before. Finally, our finding has detected deletion mutation c.667>T (p.Arg223X) in PAX3 identified in three children individual with WS1. Our analyses indicated that these mutations might constitute a pathogenic-genetic-hearing loss associated with WS1. It is very clinical importance as such patients may be misdiagnosed as congenital hearing loss since it is uncommon in Southern Vietnamese population.