Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.

A total of 64 loci for autosomal dominant non-syndromic hearing impairment have been described, and the causative genes have been identified for 24 of these. The present study reports on the clinical characteristics of an autosomal dominantly inherited hearing impairment that is linked to a region within the DFNA60 locus located on chromosome 2 in q22.1-24.1. A pedigree spanning four generations was established with 13 affected individuals. Linkage analysis demonstrated that the locus extended over a 2.96 Mb region flanked by markers D2S2335 and D2S2275. The audiograms mainly showed a distinctive U-shaped configuration. Deterioration of hearing started at a wide age range, from 12 to 40 years. Cross-sectional analysis showed rapid progression of hearing impairment from mild to severe, between the ages of 40 and 60 years, a phenomenon that is also observed in DFNA9 patients. The results of the individual longitudinal analyses were generally in line with those obtained by the cross-sectional analysis. Speech recognition scores related to the level of hearing impairment (PTA1,2,4 kHz) appeared to be fairly similar to those of presbyacusis patients. It is speculated that hearing impairment starting in mid-life, as shown by DFNA60 patients, could play a role in the development of presbyacusis. Furthermore, speech recognition did not deteriorate appreciably before the sixth decade of life. We conclude that DFNA60 should be considered in hearing impaired patients who undergo a rapid progression in middle age and are negative for DFNA9. Furthermore, cochlear implantation resulted in good rehabilitation in two DFNA60 patients.

Management of benign lymphoepithelial lesions of the parotid gland in human immunodeficiency virus-positive patients.

The diagnosis and radiotherapeutic treatment of these HIV-associated benign lymphoepithelial lesions in the parotid gland are discussed. As an example of these lesions, a case is presented involving a 43-year-old HIV-infected man with a 2-year history of enlargements in both parotid glands. After evaluation by computer tomography and cytology, the diagnosis of benign lymphoepithelial lesions was made. Treatment by low-dose radiotherapy (15 Gy) caused regression of both lesions. The lesion on the left regressed completely, but the one on the right side responded only partially. A second course of high-dose radiotherapy (24 Gy) to the right lesion caused regression to a cosmetically acceptable size.

[CO2 laser treatment; an effective and minimally disruptive endoscopic therapy for small glottic laryngeal carcinomas]. / CO2-laserbehandeling; een effectieve en weinig belastende endoscopische therapie voor kleine glottische larynxcarcinomen.

OBJECTIVE: To evaluate endoscopic CO2 laser vaporization as a treatment of small glottic laryngeal carcinomas selected by means of video laryngo-stroboscopy. DESIGN: Prospective. SETTING: ENT department, University hospital, Free University Amsterdam. METHODS: Patients with a small glottic laryngeal carcinoma (stage Tis or T1a), were selected by means of video-laryngo-stroboscopy for a single stage endoscopic CO2 laser vaporization treatment as an alternative for radiotherapy. They were followed up for at least 24 months. RESULTS: Three of the 46 patients (6%) developed a local recurrence within 2 years; one of these could be treated once more with the CO2 laser, the other two were irradiated. None of these patients developed metastases in cervical lymph nodes or distant metastases. Most patients (41, 89%) assessed their voices after CO2 laser vaporization as normal or almost normal. Slight dysphonia was reported by five patients (11%). No serious dysphonia or aphonia occurred. CONCLUSION: Endoscopic CO2 laser vaporization, compared with radiotherapy or more extensive surgery, constitutes an adequate treatment for selected patients with small glottic laryngeal carcinomas. As a result of this treatment, it will be possible to preserve the larynx in more patients.

Partial vertical laryngectomy for recurrent glottic carcinoma.

Partial vertical laryngectomy for recurrent glottic carcinoma was performed in 61 patients according to stringent criteria. The great majority of the recurrent tumours appeared within 2 years of radiotherapy (80%). The mean follow-up after surgery was 79 months. At 5 years 85% of the patients were free of local recurrence. Nine patients (15%) developed a local recurrence; eight of them underwent total laryngectomy; one patient refused the operation and died. Seven patients died of other causes. The actuarial overall survival rate was 88% at 5 years. Post-operative complications were seen in 12 patients (20%); nine of these patients developed airway problems. One patient underwent total laryngectomy for severe aspiration, the others finally were decannulated. The results of this study indicate that partial vertical hemilaryngectomy for irradiation failures is a safe procedure with good results without undue morbidity.

[Satisfactory results of conservative treatment in traumatic esophageal perforation]. / Goede resultaten van conservatieve behandeling bij traumatische oesofagusperforatie.

OBJECTIVE: Evaluation of diagnosis and management of 18 patients with iatrogenic or traumatic oesophageal perforation. DESIGN: Descriptive retrospective. SETTING: University hospital Vrije Universiteit Amsterdam. PATIENTS AND METHODS: In the period 1981-1991 18 patients received conservative treatment for iatrogenic/traumatic oesophageal perforation. RESULTS: The perforation was located in the cervical part of the oesophagus in 13 cases and in the thoracic part in 5 cases. Various incidents had led to the perforation. For radiological examination X-rays of the thorax or lateral neck were made or an oesophagogram using iodine as the contrast medium. Treatment consisted of antibiotics, a stomach catheter, intravenous nutrition and if necessary suction drainage. Seventeen patients recovered completely, one patient died. CONCLUSION: Conservative treatment of iatrogenic oesophageal perforation consisting of antibiotics, stomach catheter, enteric or parenteral nutrition and if necessary suction drainage gives good results.

Castleman's disease as a uncommon cause of a neck mass.

Castleman's disease is an uncommon cause of a neck mass; in only 6% of the cases reported in the literature was the disease located in the neck. We present the case of a 21-year-old woman who developed a swelling in the left side of her neck that was subsequently diagnosed as Castleman's disease. The different forms of the disease and its histopathology are discussed.