Retinitis pigmentosum co-segregating with Enamel Hypoplasia (Amelogenesis Imperfecta)-A new Syndrome.

A family with the segregation of retinitis pigmentosum (RP) in combination with enamel hypoplasia (amelogenesis imperfecta - AI) is recorded. Family information collected over three generations revealed expression of the condition in two of the cousins born to half sibs. Parents of both the patients are cousins and are phenotypically normal. None of the sibs and other relatives of the patients are affected with any ophthalmic condition or dental anomalies. Ophthalmic evaluation of the patients revealed retinitis pigmentosa with nystagmus and optic atrophy and dental examination showed the presence of AI with hypoplastic enamel,' severe attrition of incisors and molars with narrowing of root canal and pulp chambers. Retinitis pigmentosum is a highly heterogeneous condition with 11 genes identified for an autosomal dominant, 13 for autosomal recessive and 5 for X-linked inheritance. Amelogenesis imperfecta is also a genetically heterogeneous condition showing all the three types of segregation. To the best of our knowledge co-segregation of RP with AI has not been reported. The family reported here may be considered as a new syndrome caused by a rare autosomal recessive gene with pleitropic effect affecting the retina and as well as the normal dentition. Alternatively it could also represent a rare coincidence of the two conditions.

Malondialdehyde levels in patients with duodenal ulcer.

Malondialdehyde (MDA) is a stable product of lipid peroxidation of membrane lipids. In view of its role in membrane lipid damage in various inflammatory disorders, MDA levels were estimated in 83 duodenal ulcer patients and 48 controls. MDA levels were found to be significantly higher in duodenal ulcer patients as compared to controls (mean +/- SD 280.2 +/- 109.0 versus 216.5 +/- 81.4 nm/dL, p < 0.001). These increased levels of MDA may represent either the result of peroxidative damage in the disease process or a pathogenetic factor enhancing the risk for duodenal ulcer.

ABO Blood Group Antibodies and ABH Secretion In Duodenal Ulcers.

The association of the ABO antigen-antibody titres with the ABH secretor status in duodenal ulcers was examined in a sample of 196 patients and 182 healthy controls. The risk for group A and group B patients depended upon the strengths of the antigens and the ABH secretor status. Further the risk was high for low antibody titres in non-secretor patients than in secretor patients. Increased demand on the antibodies for mucoprotection in the absence of the A and B antigens in the gastro-intestinal mucosa or insufficient production of antibody by the lymphocytes could be the possible reasons.