Search results for: Mamata Deenadayal

Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

Abstract:

Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

Procedia PDF Downloads 276

Authors: Mamata Mohanty, J. T. Shahu

Abstract:

The in-situ deep mixing is an effective ground improvement technique which involves columnar inclusion into soft ground to increase its bearing capacity and reduce settlement. The first part of the study presents the results of unconfined compression on cement-admixed clay prepared at different cement content and subjected to varying curing periods. It is found that cement content is a prime factor controlling the strength of the cement-admixed clay. Besides cement content, curing period is important parameter that adds to the strength of cement-admixed clay. Increase in cement content leads to significant increase in Unconfined Compressive Strength (UCS) values especially at cement contents greater than 8%. The second part of the study investigated the bearing capacity of the clay ground improved by a group of end-bearing column using model tests under plain-strain condition. This study mainly focus to examine the effect of cement contents on the ultimate bearing capacity and failure stress of the improved clay ground. The study shows that the bearing capacity of the improved ground increases significantly with increase in cement contents of the soil-cement columns. A considerable increase in the stiffness of the model ground and failure stress was observed with increase in cement contents.

Keywords: bearing capacity, cement content, curing time, unconfined compressive strength, undrained shear strength

Procedia PDF Downloads 146