Missense Variants Within GJB2 Gene Locus and the Risk of Hearing Defects in Nonsyndromic Cleft Lip and Palate.

AIM: The aim of the study was to investigate the role of variants in GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip/palate. METHOD: Saliva samples were obtained from cases (subjects with orofacial clefts) and control (subjects without orofacial clefts) who consented to the study. Deoxyribonucleic acid (DNA) was extracted using standardized protocol at Butali Lab (Iowa, IA). Primers for the coding region of GJB2 was designed using Primer 3 (http://bioinfo.ut.ee/primer3-0.4.0/) and optimized in the Butali lab using a gradient polymerase chain reaction to determine the annealing temperature for each primer set (forward and reverse). We measured the DNA concentration using Qubit and XY genotyping done for quality control. A concentration of 5 ng/µL of DNA was used for Sanger sequencing. RESULTS: A total of 150 subjects were sequenced (66 cases; 84 controls). Mutations in GJB2 gene were detected in 2 individuals with cleft palate. We found p.Arg165Trp variant in 1 case and p.Leu81Val variant in the second case. Although p.Arg165Trp was predicted to be either benign or tolerated by SIFT/POLYPHEN, the single nucleotide change from C>T, that is, CGG>TGG leads to a premature stop codon preventing the protein formation. The p.Leu81Val variant was predicted to be probably damaging/ deleterious. CONCLUSIONS: The present study implicates variants in the GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip and palate in the Nigerian population. Screening for variations in GJB2 gene is important for genetic counseling especially in high-risk families.

Neonatal hearing screening in a rural/sub-urban community in Nigeria, sub-Saharan Africa-a preliminary report.

INTRODUCTION: The implementation of Neonatal Hearing Screening (NHS) program is still at the preliminary stage particularly in developing countries despite the burden of permanent congenital and early-onset hearing impairment. There has been an earlier report of NHS in a city in Nigeria, however, this is a report of a preliminary NHS carried in a rural/sub-urban area in Nigeria. METHOD: This prospective study, which took place between October 2009 and April 2010, involved all newborns delivered at the University College Hospital, Ibadan and the Bilal Missionary Maternity, Agodi, Ibadan, a small maternity service located in Agodi community serving predominantly low socioeconomic class people. All the neonates delivered during the study period were included in the screening. The screening was performed within 72 h of delivery using automated auditory brainstem response (AABR) and repeated after 6 weeks among those with referral result. Subsequently the neonates were referred to diagnostic audiology. RESULT: Among the 453 newborns (231 males and 222 female), AABR screening showed referral, in 43.7% of neonates. At first screening, 224 (49.4%) were referred while 229 (50.6%) passed, however, during the post-natal period 40/229 (17.5%) reported for second screening, out of these 26 showed pass to the screening. This gave a total pass of 255/453 (56.3%). The presence of maternal pre-ecclampsia (P = 0.05) was found to be a significant morbidity factor associated with referral in the screening, while parental socioepidemiological variables; and the neonates' birthweight, gestational age and APGAR score were not. CONCLUSION: The proportion of referral on hearing screening encountered was far higher than previously reported, however, continuation of infant screening in future should be comprehensive with viral and genetic analysis in order to address the issue of aetiologic diagnosis; in addition, the implementation should factor the high drop out from the first stage screening in order to substantiate the findings in our region.

Impacted radio-opaque glass in the oesophagus of a child.

Most ingested foreign bodies in the aero-digestive tracts in both children and adults are not radio-opaque, and as a result, a preoperative plain radiograph may not be helpful. However, incorporating radio-opaque markers into such potential foreign bodies like toys, beads, and dentures during manufacture (as illustrated in this case of a 6-year-old boy who ingested a piece of glass mirror which was easily seen on X-ray) would obviate this problem. While this may constitute some financial burden on manufacturers, the cost effectiveness on health management is non-negotiable. We suggest that appropriate authorities and regulatory bodies should enforce this through legislation.