Indian Journal of Genetics and Molecular Research

Aims: To report a case of bilateral ectopia lentis et pupillae. Settings and Design: Case report Methods and Material: A 9 year old female with history of bilateral gradual painless diminution of vision underwent a thorough systemic, ophthalmic and serological examination. Results: Increased corneal diameters and bilateral superotemporally displaced pupils with inferonasally displaced lens were detected with normal systemic features and serology.Conclusions: A rare case of bilateral ectopia lentis et pupillae with megalocornea was diagnosed.

Keywords: Ectopia Lentis et Pupillae; Megalocornea; Congenital Ocular Abnormalities.

Turner syndrome is one of the commonest surviving abnormal cytogenetic disorders which is mostly identified at the time of puberty. The cytogenetic abnormality can be in form of classic monosomy X, structural abnormality of X chromosome or mosaicism. The phenotype can be modified in the presence of the chromosomal make-up of an individual. Here we report a series of patients having milder phenotype prompting us to be more vigilant in girls having short height and obtaining cytogenetic studies at the earliest. 

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It is known that asthma is one of the leading serious chronic illness affecting children in the United States. It is largely accepted that gene-environment interactions are responsible for the development of asthma; allergic sensitization has been demonstrated to be one of the major risk factors. While there appears to be a rather clear relationship between allergen exposure and allergic sensitization, a dose-response relationship is mostly relevant for “susceptible” individuals. Allergic multi-sensitization has increased significantly in the last few decades with young age, family history of allergy and urban living being identified as significant risk factors for allergic sensitization. Moreover, the changes in lifestyle and environment in the recent decades have modified the specific risk factors which predispose to the development of asthma. 

Collectively, this review article suggests that there is a connection between environmental changes and allergic sensitization which contributes to the risk of developing asthma. Identifying the changing patterns of allergens and understanding their predictive ability in relation to asthma and other allergic diseases is crucial for the design of personalized diagnostic tools for the management of the chronic illness. 

Keywords: Asthma; Allergic Sensitization; Allergens. 

Ageing is a multifaceted process in which bodily structures and functions undergo a negative deviation from the optimum. It occurs as the result of genetic alterations that repair DNA, reduce oxidative damage or reduce apoptosis. Ageing is among the largest known risk factors for most human diseases. The present study was planned to evaluate the genetic damage in healthy individuals of Haryana using comet assay. The relationship between genetic damage and age in healthy individuals was also assessed. The study was conducted on 90 randomly selected healthy subjects belonging to two age groups: <50 years (mean age = 43.833±0.789) and ³50 years (mean age = 60.222±0.885). Significantly (P<0.001) higher Tail DNA (%), Tail length (µm), Tail moment, Olive moment and Tail area were found in individuals with ³50 years of age as compared to those belonging to <50 years of age. Tail DNA (%), Tail length (µm), Tail moment and Olive moment showed a highly significant (P<0.001) positive Pearson correlation with age. Significant (P<0.01) positive Pearson correlation was found for integral intensity with respect to age. In conclusion, the accumulation of deleterious genetic damage may be one of the causes responsible for ageing.

Keywords: Ageing; Comet assay; Genetic damage.