Paediatric aerodigestive foreign bodies: remember the nasopharynx.

INTRODUCTION: Nasopharyngeal foreign bodies are relatively uncommon, compared with other aerodigestive sites. They may mimic a lower airway location, or may be coughed up into the nasopharynx prior to endoscopic evaluation. OBJECTIVE: To describe our experience with nasopharyngeal foreign bodies mimicking a more distal airway location. METHOD: Case series from a tertiary referral children's hospital. RESULTS: We present a series of four children who were initially thought to have a lower aerodigestive tract foreign body (three respiratory, one oesophageal), but who were finally diagnosed with nasopharyngeal foreign body. The concept of panendoscopy at all foreign body removals is suggested as a means to avoid a missed nasopharyngeal foreign body. CONCLUSION: Although nasopharyngeal foreign bodies are uncommon, their rare ability to mimic distal sites mandates a thorough endoscopic approach to ensure that all sites (i.e. larynx, lungs, oesophagus and nasopharynx) are evaluated endoscopically.

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.

Sensorineural hearing loss (SNHL) is the most common inherited sensory disorder, reported in 1-3 of every 1,000 births. It has been estimated that 50% of all cases of prelingual SNHL are genetically determined. There is tremendous genetic heterogeneity, with multiple dominant and recessive loci. Mutations of the gap junction beta-2 gene (GJB2) emerge as a leading cause of autosomal recessive non-syndromic SNHL. Over 90 sequence alterations have been reported, the pathogenicity of some of them being unknown or unclear. The status of the V37I allele of connexin 26 (GJB2 amino acid product) with regards to its association with SNHL has been controversial. This study examines the pathogenicity of V37I by comparing the frequency of this allele in 40 patients with SNHL of Chinese and Caucasian descent with the frequency of the allele in 100 anonymized, ethnically matched controls. The V37I allele was identified in 43.75 and 11.5% of the patient and control alleles of Chinese ethnicity, respectively, but was not found in either Caucasian cohort. We also compiled the audiograms of 15 individuals with SNHL homozygous for the V37I allele, and showed that these individuals present with a mild to moderate SNHL. These results indicate that (1) the V37I allele is common in individuals of Chinese descent but rarely present in individuals of Caucasian decent; and (2) the V37I allele is pathogenic, but produces milder hearing loss compared to nonsense mutations of connexin 26 such as the 35delG mutation.

Repair of a laryngotracheoesophageal cleft in an infant by means of extracorporeal membrane oxygenation.

Few survivors have been reported following attempted repair of laryngotracheoesophageal clefts (LTECs). The major challenge is maintaining oxygenation, both during the surgical repair and during the postoperative period of healing. We report a neonate with an LTEC extending to the carina whose successful repair was facilitated by extracorporeal membrane oxygenation (ECMO) begun intraoperatively and continued postoperatively for 11 days. The intraoperative surgical exposure of the defect was excellent. Postoperative trauma to the fresh tracheal repair from ventilatory pressures and endotracheal tube motion was eliminated through the use of ECMO. The patient was discharged without a tracheotomy and with a normal voice, cry, and swallow. According to this result, the use of ECMO may represent a significant advance in facilitating the correction of major laryngotracheoesophageal anomalies. The rationale, advantages, disadvantages, and potential pitfalls of this approach are presented, as well as preoperative and postoperative documentation of our results.

Nasal polyposis: in search of a viral etiology using DNA hybridization.

The etiology of nasal polyps is unknown. Numerous theories have been proposed, with allergic and infectious causes predominant. A viral theory was postulated almost 40 years ago. In a pilot project, we studied 15 subjects comprising six controls and nine patients with nasal polyps. No known viruses were cultured from the nasal polyp tissue or nasal mucosal biopsies from the control subjects. DNA Hybridization for Epstein-Barr Virus, Herpes simplex virus, adenovirus type V, and Chlamydia trachomatis were also negative for all tissue studied. The use of molecular biological techniques is not widespread in otolaryngology and this is the first report, to the best of our knowledge, of the application of these techniques for the investigation of the viral etiology of nasal polyps.

Tourette syndrome and otolaryngology.

Tourette syndrome (TS) is the most complex tic disorder and presents primarily in the pediatric population between the ages of two and 15. The otolaryngologist may be consulted to see such a patient because of head and neck or facial tics or more often because of phonic or vocal tics such as throat-clearing, sniffing, coughing or abnormal noises. As this disorder has not appeared in the otolaryngologic literature we undertook a retrospective chart review (N = 72) and follow-up questionnaire related to the otolaryngologic aspects of this disorder.

Familial breast cancer in males. A case report and review of the literature.

The occurrence of breast cancer in two related males, an uncle and nephew is reported. A review of previously reported cases of male breast cancer occurring in families and the association with other cancers in other family members is included. In previous reports on breast cancer in males, familial or hereditary factors have not generally been recognized as a major contributing factor. Of ten families reported (including our own) where there is sufficient information given, six families (60%) had females with breast cancer. It appears there are some families in which males as well as females have an increased risk of developing breast cancer.