Split-hand/split-foot malformation with paternal mutation in the p63 gene

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.     

Aerosol chemical characteristics of an island site in the Bay of Bengal (Bhola-Bangladesh)

Aerosol constituents (elemental carbon, organic carbon, soluble ions including organic acids, and selected trace metals) were investigated from samples of a field campaign taking place at Bhola Island in the Bay of Bengal (Bangladesh). The campaign took place in the pre-monsoon season (May 2001) using low volume samplers. Carbonaceous material comprised the majority of the analysed components. The average concentrations of EC and OC were 2.8 and 4.6 microg m(-3), respectively. Oxalic acid was the most abundant dicarboxylic acid (average 268 ng m(-3)) followed by malonic and malic acid. The contribution of carboxylic acids-carbon to organic carbon was 2.0%. Average concentrations observed for sulfate and nitrate were 3.7 microg m(-3) and 1.5 microg m(-3). Two different types of aerosol were identified at the rural background site on Bhola Island during southerly synoptic flow by means of trajectory analysis: air masses were transported from the Bay of Bengal to the sampling site in all cases. However, during "Period 1" they experienced longer residence times over the Indian Ocean, while the "Period 2" trajectories came along the Indian coast or passed over the Indian continent. During Period 1 the concentration levels of soluble ions were a factor of 4-6 lower than during Period 2. The concentrations of EC, OC and K differed less than a factor of 1.5 between the two periods. The Period 1 aerosol showed similarities to the haze layers observed during winter-monsoon conditions south of India during the INDOEX experiment. Based on EC/TC and K/EC ratios we find that around 80% of the carbonaceous aerosol from Period 1 in Bhola is from fossil fuel and only around 50% from Period 2. Absolute concentrations of carbonaceous species, soluble ions and trace metals indicate that the background site on Bhola Island is affected by emissions from urbanized regions of Southeast Asia.