We have detected a novel mitochondrial mutation in a maternal pedigree, at least 13 of whose members have sensorineural hearing loss of varying severity, but who exhibit no other pathological features. The mutation, at np 7445, converts the 3' terminal T residue of tRNA-ser(UCN) to a C, and also brings about a silent alteration to the COI stop codon. The mutation destroys an XbaI site, within which a second mutation, at np 7444, has previously been reported in association with Leber's hereditary optic neuropathy. Predominantly mutant mtDNA was found in all 13 family members surveyed, whether or not they are overtly affected by deafness, and some individuals appeared homoplasmic, within the limits of detection. The novel mutation was not found in over 600 normal controls, nor in any of 27 other maternally unrelated individuals with deafness Other mutations found in mitochondrial disorders were also absent from this pedigree.

A prospective study was performed during a 2-year-period. A total of 127 patients presenting with a squamous cell carcinoma of the head, neck and upper aerodigestive tract were entered into the study. Patients were classified according to the primary site, namely: larynx (n = 44), oropharynx (n = 28), hypopharynx (n = 17) and oral cavity (n = 19) and others (n = 19). Patients were staged according to the UICC TNM classification (1987) and the nature and duration of their symptoms were recorded. Sixty-one per cent of patients were found to be presenting with advanced disease (stages 3 and 4): oropharynx--71%; hypopharynx--77%; oral cavity--50%; larynx--34%. No relationship could be established between stage at presentation and duration of symptoms and 53% of patients with advanced disease had been symptomatic for less than 3 months at the time of diagnosis. Only 28% of patients presenting with stage 3 or 4 disease had symptoms for 3 months or longer. Earlier diagnosis will not make a significant impact on the overall prognosis in head and neck cancer.

Pure-tone audiometry was carried out on members of a recently described maternal lineage with sensorineural deafness, harbouring a novel mitochondrial mutation in the gene for tRNA-ser(UCN). This revealed a characteristic pattern of symmetrical bilateral sensorineural hearing losses in each affected individual, predominantly affecting the high-frequencies, but with considerable variability between individuals. No clear correlation was observed between age and severity, but most subjects reported progressive worsening of their condition. Some members of the lineage were found to be heteroplasmic for the tRNA-ser(UCN) mutation. However, the severity of hearing loss was poorly correlated with the representation of the mutant mtDNA, indicating that other, as yet unidentified factors must be involved in the aetiology of this disorder.

Recent studies have suggested a link between antiplatelet medications and alcohol in the aetiology of acute adult epistaxis. The possibility that adult epistaxis may be associated with alcohol induced platelet dysfunction has not previously been investigated. This study evaluated primary haemostasis in 50 adult patients with idiopathic epistaxis. A detailed alcohol history was recorded and the Simplate bleeding time device was used to test haemostatic function. Forty-six per cent of patients were found to have an abnormality of primary haemostasis. Prolongation of the bleeding time was significantly associated with a history of alcohol use. The effect of alcohol on the bleeding time duration was significant (P < 0.001) even at low levels of intake of between 1 and 10 units per week. Although prevalent in the study group (42%) the use of non-steroidal anti-inflammatory drugs did not confer a significant additional risk of increased bleeding time. These findings support the importance of alcohol induced haemostatic abnormalities in the aetiology of adult epistaxis.