Aims-To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy. Methods-Linkage analysis, single strand conformation polymorphism (SSCP) analysis, and direct sequencing of genomic DNA were performed. A review of the patients' clinical symptoms and signs was undertaken. Results-Linkage to chromosome 9q34 was established and a mutation in the gelsolin gene was found in aVected individuals. Numerous symptoms experienced by the patients were attributable to this mutation. Conclusion-A diagnosis of amyloidosis type V (familial amyloidosis, Finnish type, FAF/Meretoja syndrome/gelsolin related amyloidosis) was made. This is the first case of amyloidosis type V described in the UK. This emphasises the importance of recognition of the extraocular manifestations of eye disease both in the diagnosis and management of the patient. In addition, these findings can help molecular geneticists in their search for diseasecausing mutations. (Br J Ophthalmol 2000;84:390-394)

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Rapid industrialization and urbanization have contaminated air and soil by heavy metals and metalloids from biogenic, geogenic and anthropogenic sources in many areas of the world, either directly or indirectly. A case study was conducted in three different microenvironments, i.e., residential sites, official sites and official sites; for each sites, we choose two different locations to examine the elemental concentration in fine particulate matter and soil and health risk assessment. The concentration values of heavy metals and metalloid in the air and soil in the Agra region were measured using inductively coupled plasma-atomic emission spectrophotometry. The exposure factor and health risk assessment for carcinogenic and non-carcinogenic effects due to heavy metals and metalloid contaminants have been calculated for both children and adults by following the methodology prescribed by USEPA. For the elements As, Cr, Cd, Ni and Pb selected for the carcinogenic health risk assessment, the calculated results lie above the threshold ranges. We observed the lifetime exposure to heavy metals through mainly three pathways, ingestion, inhalation and dermal contact of soil and air from that particular area. Therefore, the overall hazard quotient (HQ) values for children are more than that of adults. The assessment of health risk signifies that there were mainly three exposure pathways for people: ingested, dermal contact and inhalation. The major exposure pathway of heavy metals to both children and adults is ingestion. The values of HQ are higher than the safe level (=1), indicating a high risk exists in present condition. Meanwhile, HQs value for children is higher than that for adults, indicating that children have higher potential health risk than adults in this region.

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