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We undertook a study amongst adolescents from Mabile High School in Bamako, Mali. The goal of the study was to determine the knowledge, attitudes and practices of high school students around STI/AIDS and family planning. It was a transversal study using a stratified sampling method. A total of 322 students between ten and 19 years of age were included in the study (191 boys, 131 girls) This study demonstrates that high school students do not often family planning services (only 13.4% of those who knew of the existence of such used them). The method of contraception most often used is still the condom (92.5%). HIV is the most well know STI (97.5%) followed by gonorrhea (45%). An absence of communication between adolescents and their parents around family planning and STI/AIDS was apparent in that information was most often received on these topics through the media (96.3% for family planning, 97.5% for AIDS) followed by friends (72.4% for family planning and 81.7% for AIDS). 59.3% of the students are sexually active. Of sexually active students, 41.3% have had sexual relations with a casual partner and 75.9% with at last two partners. Given their high number of partners and a lack of systematic condom usage, it is apparent that sexually active high school students practice high risk sexual behaviors. It is therefore crucial to develop methods to lead to an improvement in behaviors amongst adolescents.

Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity and genetic defects of lysosomal acid lipase (LAL). The strikingly more severe course of WD is caused by genetic defects of LAL that leave no residual enzymatic activity. Mutations at the exon 8/intron 8 transition of the LAL gene have been identified in several CESD and WD patients and are responsible for the manifestation of the disease. We have determined the genetic defect in a 3-month-old boy of African origin affected by WD. No enzymatic activity of the lysosomal acid lipase was detectable in white blood cells and cultured fibroblasts. Analysis of his LAL cDNA and genomic DNA revealed that he was homozygous for a mutation at position -3 of the exon 8 splice donor site. A C-->T transition leads to a nonsense codon and to a premature termination of the LAL protein at amino acid 277. Due to this mutation, a shorter LAL mRNA species was also generated that lacked exon 8 and was deficient of the nonsense codon. As a consequence, the protein synthesis proceeded to the natural termination codon, but the enzyme generated had an internal deletion of 24 amino acids (254-277) and was also inactive. These findings, together with our previous observations when analyzing the mutations in WD and CESD patients lead to the conclusion that the more severe WD is due to mutations that absolutely abolish lysosomal acid lipase (LAL) enzyme activity and the cholesteryl ester storage disease phenotype is due to mutations that allow some residual LAL activity to be manifested.