International Workshop on Sustainable Forestry Management: Monitoring and Verification of Greenhouse Gases - Summary Statement

Mitigation and Adaptation Strategies for Global Change -     

Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Academic expertise in assisting private companies in the fields of environment and environmental toxicology: the role of individual expertise

Environmental Science and Pollution Research - The scientific knowledge produced by academic research can be valued in all sectors of human activity, including private sector. The ROVALTAIN...     

Protection from metal toxicity by Hsp40-like protein isolated from contaminated soil using functional metagenomic approach

Environmental Science and Pollution Research - Pollution in the environment due to accumulation of potentially toxic metals results in deterioration of soil and water quality, thus impacting health...