Primary vitreoretinal dysplasia transmitted as an autosomal recessive disorder.

A sibship of a brother and sister with congenital bilateral pseudoglioma is described. The most prominent abnormality was a greyish-white vascularised mass in the retrolental spaces, which was noted as early as the first weeks of life. Corneal opacities, posterior synechiae, and complicated cataracts developed within 1 to 2 years age. The sibship showed normal chromosomes and had no systemic disorders, including mental and hearing impairment. The parents and other relatives were normal. Autosomal recessive disease, rather than Norrie's disease, was the most probable explanation for the dysplasia of the vitreous and retina in the sibship. This is probably the third report of familial occurrence with autosomal recessively inherited vitreoretinal dysplasia without systemic anomalies. The importance of the disease in genetic counselling is discussed.     

Detection of gastric cancer by a combination of tissue polypeptide antigen (TPA), lipid-bound sialic acid (LBSA) and carcinoembryonic antigen (CEA)

In this study, the clinical significance of the tumor markers, tissue polypeptide antigen (TPA) and lipid-bound sialic acid (LBSA) in conjunction with carcinoembryonic antigen CEA, was tested in 52 gastric cancer patients. The incidence of elevated serum levels of these 3 markers was as follows: 63% (33/52) for TPA; 40% (21/52) for LBSA; 21% (11/52) for CEA. In a combination assay using all three tumor markers, 37 out of 52 gastric cancer patients (71%) showed a positive combination assay, while 5 out of 20 normal subjects (25%) showed a positive combination assay. In a discriminant analysis of the resulting data, 18 out of 52 gastric cancer patients (35%) were classified correctly based on an analysis of CEA alone. Furthermore, 25 out of 52 gastric cancer patients (48%) and all 20 normal subjects (100%) were classified correctly based on an analysis of all three variables. Our data suggest that TPA and LBSA are more sensitive than CEA as markers of gastric cancer, and that the simultaneous measurement of TPA and LBSA in conjunction with CEA is more useful in cancer detection than the measurement of CEA alone.     

Evaluation of the effectiveness of uvulopalatopharyngoplasty

A new surgical procedure to treat obstructive sleep apnea by uvulopalatopharyngoplasty (UPPP) was evaluated in 66 patients, 63 men and 3 women, with objectively documented sleep apnea syndrome. Removal of redundant tissue in the oropharynx (UPPP) significantly improved excessive daytime sleepiness, reduced by half the frequency of apneas and hypoxia occurring during sleep, and improved the quality of sleep. Closer analysis indicated that all 66 patients did not benefit to the same degree. Among patients classified as responders, the frequency of apnea was reduced to a level seen in healthy adults of the same age, measures of sleep approached normal, and excessive daytime sleepiness was eliminated. In nonresponders, frequency of apnea and consequent disruption of sleep was not reduced, but nocturnal hypoxia was improved.