Role of the CYP1A2 Gene Polymorphism on Early Ageing from Occupational Exposure.

The ageing process is influenced by many internal and external factors. The toxic substances in the environment can cause genomic damages to cells, which increase the risk of early ageing. Furthermore, the cytochrome P450 1A2 (CYP1A2) gene polymorphism is a susceptibility factor and may enhance the risk of DNA damage in cells. The current study was carried out to show whether occupational exposure could cause genotoxicity in cells carrying the CYP1A2 gene polymorphism, thus enhancing the likelihood of early ageing. This study was conducted on mechanical workshop workers and a control group by collecting buccal cells from their mouths. Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) was used to identify the CYP1A2 gene polymorphism in the cells. In addition, three extra methods including micronuclei (MN) test, comet assay and real-time PCR (RT-PCR) were applied to determine the effects of gene polymorphisms on DNA damage and ageing from occupational exposure. The results showed that DNA damage in the cells carrying the mutated genotype was higher than the wild genotype. In addition, the difference in MN frequency (p = 0.001) and relative telomere length (p = 0.002) between workers and controls was significant (p <0.05) in the mutated genotype. The findings indicated a possible protective effect of gene polymorphism against early ageing, which was characterized by lack of a significant influence of CYP1A2 gene polymorphism on genetic material in the subjects (p >0.05). It was concluded that the CYP1A2 gene could be a contributing factor to prevent early ageing from occupational exposure.

Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome.

Sturge-Weber Syndrome (SWS) occurs sporadically with a frequency of approximately 1 in 50,000. SWS is a mesodermal phakomatosis. Klippel-Trenaunay Weber syndrome (KTWS) is another very rare phakomatosis. Overlap between SWS & KTWS is very rarely encountered. We report a 19 months old boy with features of both SWS and KTWS. The reported case had seizures, port wine haemangioma of the right side of the body, glaucoma of both eyes, subcortical calcification which were consistent with the Sturge Weber Syndrome; on the other hand he had also hypertrophy of the right side of the including the face and limbs, angiomatous skin naevus, varicosities consistent with the KTWS.

Metatropic dysplasia in children.

Metatropic dysplasia is a rare genetic condition characterized by progressive dwarfism. Metatropic dysplasia is defined as a short limb skeletal dysplasia characterized by dumbell like configuration of long bones, a narrow but normal length of thorax and occasionally a coccygeal appendage similar to a tail. Children born with this condition show different signs and symptoms throughout the childhood. An eight years old boy was admitted in the Paediatric ward of Bangbandhu Sheikh Mujib Medical University (BSMMU), Dhaka with the complain of swelling in the back for 7 1/2 years. On examination the boy had features suggestive of Metatropic dysplasia. Radiological findings included exaggerated curvature of the spine which was different at the different levels giving rise to "S" shaped deformity, pectus carinatum and flattening of the vertebral bodies which were variable at different levels. From the history, clinical examination and radiological findings the boy was diagnosed as a case of metatropic dysplasia.