CLINICAL AND CYTOGENETICS ANALYSIS OF WOMEN THAT WERE SUSPECTED FOR TURNER SYNDROME IDENTIFIED AS 19.8% CHROMOSOMALABNORMALITY IN NORTH INDIAN POPULATION

Purpose: The objective of present study was to know the contribution of different types chromosomal anomalies in manifestation of Turner syndrome. Turner syndrome is a chromosomal disorder mainly due to growth retardation and primary amenorrhoea. Cytogenetic analysis of cases referred for Turner syndrome is necessary for an early diagnosis which helps in genetic counselling to manage it in a better way. Total 237 cases suspected for Methods: Turner syndrome, were included in this study for duration of 7 years (2007-2014). We implemented the standard protocol for peripheral whole blood lymphocyte culture, chromosome preparation followed by G-banding. Chromosomes were analysed according to the guidelines of International System for Human Cytogenetic Nomenclature (2005). After analysing 237 Results: registered cases, chromosomal anomalies were seen only in 47 cases (19.8%). Careful clinical examination of patients with abnormal karyotype (n=47) revealed four major phenotypes i.e. growth retardation (n=19, 40.4%), primary amenorrhoea (n=19, 40.4%), primary amenorrhoea with growth retardation (n=6, 12.8%), and oligoamenorrhoea (n=3, 6.4%). Seven different types of chromosomal abnormalities were observed viz. Monosomy X (n=22, 46.8%), triple X syndrome (n=2, 4.2%), turner mosaic (n=3, 6.4%), ring chromosome (n=5, 10.6%), structural abnormalities with X chromosome (n=6, 12.8%), mosaic structural X abnormality (n=1, 2.1%), XY gonadal dysgenesis (n=8, 17%). This study revealed the frequency of Conclusion: most common clinical phenotype and different chromosomal abnormalities in patients suspected for turner syndrome. We observed growth retardation and primary amenorrhoea as most common clinical feature and monosomy of X chromosome as most frequent chromosomal abnormality in this cohort of study.

Study of perception and behaviour in patients with coronary heart disease about risk factors and life style modification in tertiary care hospital, Bhavnagar

Background: Non-communicable diseases are now the major cause of death in India, with cardiovascular diseases being the dominant cause. Very few studies had been done regarding patients perception of risk factors, behaviour change and counselling. So this study is based on patient perspective and role of health education for patients. The objective of the study was to identify the risk factors of CHD, to assess behaviour changes whether lifestyle and habits modified by patients of CHD, to assess perception, to assess effectiveness of counselling.Methods: A cross-sectional study was conducted in 174 patients attending follow up Out Patient Department in Tertiary Care Hospital, Bhavnagar using questionnaire which includes personal data, BMI, history of risk factors, behaviour change and medical counselling. Data was analyzed by epi info and appropriate statistical tests were applied.Results: Total 73 patients were addicted to tobacco; smoking or alcohol. Mean duration of addiction was 22.43 years. Counselling was given by doctors at the time of illness to 94% patients. Counselling regarding disease, risk factors, lifestyle modification has got positive effect in 96% patients and only 4% patients were in need of further future counselling.Conclusions: More and more emphasis should be given to preventive aspect and population should be given counselling before actual illness.

A study of prevalence of obesity and its correlates among government and private school children in Hyderabad: a comparative study.

Background: Obesity has reached epidemic proportions in India in the 21st Century, affecting 5% of the country’s population. Childhood obesity is an emerging problem in urban Indian children and increase in childhood overweight and obesity may be a major contributor to adult obesity epidemic. Hence present study has been planned with the objective to study and compare the prevalence of obesity in government and private schools and also to study the risk factors associated with obesity. Methods: An institution based cross sectional study was carried out among 718 school children of randomly selected government and private schools of Hyderabad city. Students were enquired about their physical activity and dietary habits as per the questionnaire. Anthropometry measurements like height and weight were recorded for each student. Data was analyzed using appropriate statistical tests. Results: Prevalence of obesity was found to be 21.09% among private school children and 19% in government school children. Physical activity factors like conveyance to school and less frequency of outdoor games were significantly associated with obesity. Diet related determinants like intake of soft drinks, sweets, pizza, fruits were found to be associated with obesity. Conclusions: It can be concluded that the prevalence of obesity in schools of Hyderabad is very high and it is positively associated with inappropriate exercise and improper dietary practices.