Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the PDS gene. Most published mutation studies of Pendred syndrome have dealt with Western populations. In this study, we examined clinical and molecular characteristics of 16 affected individuals in 6 unrelated Thai families. Of all the affected, 100% (16/16) had bilateral deafness, 68.8% (11/16) goiters, and 25% (4/16) hypothyroidism. Follicular thyroid carcinoma and Hürthle cell adenoma were found in affected members of a family, raising the possibility of an increased risk of thyroid carcinoma in Pendred syndrome patients. Sequence analysis of the entire coding region of the PDS gene successfully identified all 12 mutant alleles in these 6 families. The 12 identified mutant alleles constituted 6 distinct mutations including 3 splice site mutations (IVS4-1G>A, IVS7-2A>G, IVS9- 1G>A), one frame shift mutation (1548insC) and 2 missense mutations (T67S, H723R). Eight mutations out of 12 were constituted by IVS7- 2A>G and 1548insC, each one being present in 4 distinct alleles in our studied group. The identification of these two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome in Thai populations. In addition, three newly identified mutations, T67S, IVS4-1G>A, and IVS9-1G>A, were not observed in 50 unrelated healthy Thai controls.

The otolaryngology research paradox.

OBJECTIVE: To determine the attitude toward and the state of research within the field of otolaryngology-head and neck surgery. DESIGN: A questionnaire was sent to the chairpersons of departments of otolaryngology where residency training is provided. PARTICIPANTS AND SETTING: Program directors of academic otolaryngology training programs. MAIN OUTCOME MEASURE: Responses to questionnaire. RESULTS: Questionnaires were sent to 95 programs from which 86 responses were received. Respondents believed strongly that research was important to the specialty. Only two thirds of the full-time clinical faculty, however, do research, and on average they devote only 17% of their time to this activity. About a third of those doing research have funding, and the National Institutes of Health support only 12% of clinician-investigators. Although program directors believe that clinicians should do research, three fourths stated that clinicians were too busy to accomplish this goal. Surprisingly, half of the respondents were unaware of residency programs that offered 2 years of research training, aimed to develop clinician-investigators, who can become competitive for attainment of research funding. CONCLUSIONS: Although leaders within our specialty believe that research is important, clinicians are not provided with enough time to conduct research. Furthermore, pathways that would enhance their competitiveness to obtain research funding are not recommended to our future clinicians.

Nasolacrimal duct injury from microscopic sinus surgery: preliminary report.

Nasolacrimal duct injury is a well established complication of functional endoscopic sinus surgery. In 1992, Bolger reported an incidence of nasolacrimal duct injuries in endoscopic sinus surgery of up to 15 per cent, but there is no documentation in microscopic sinus surgery. Fluorescein instillation into the lacrimal system via the punctum was done to determine the incidence of nasolacrimal duct injuries in 16 patients who underwent 32 microscopic sinus procedures. Only one patient exhibited nasolacrimal duct injury intraoperatively on the left side (0.3%). He had complete healing of the nasolacrimal duct at 2 months and no postoperative epiphora developed.

Upper aerodigestive tract burn: a case report of firework injury.

The case of a 46 year-old German man with upper aerodigestive burn by firework was reported. He presented with the symptoms and signs of upper airway obstruction. Tracheostomy was done and direct laryngoscopy with microscopic examination revealed swelling and denudation of the mucosa of the oral cavity and supraglottic area. Intravenous steroids and antibiotics were administrated for treatment. It is suggested that proper management needs an understanding of the mechanism and effect of the corrosive agent. Careful airway management resulted in a good outcome in this patient.

Telomerase assay and nested polymerase chain reaction from nasopharyngeal swabs for early noninvasive detection of nasopharyngeal carcinoma.

The main purpose of this study was to analyze sensitivity and specificity of combining nested polymerase chain reaction for detection of Epstein-Barr virus (EBV) genome and telomerase assay for identifying nasopharyngeal carcinoma (NPC). Eighty patients with NPC and 27 healthy control subjects were included in this study; 97. 5% and 94.9% of NPC patients were positive for EBV genome and telomerase activity, respectively. When nasopharyngeal swabs were tested, 95.7% presented the EBV genome and 85.5% were positive for telomerase expression. The sensitivity for counting either positive result of these two techniques was 100%. Among the 27 control subjects, only 6 and 5 cases were positive for EBV DNA and telomerase activity, respectively. This indicated a specificity of 92.6% when both positive results were included. At present, early diagnosis of NPC requires multiple biopsy specimens, especially to identify subclinical cases. Because this study showed a very high sensitivity for detecting NPC from swabs when combining the telomerase assay and nested polymerase chain reaction technique, this noninvasive technique may be a good candidate for screening of subclinical NPC, especially before multiple biopsy specimens are obtained.