Down syndrome (DS) is the most common chromosomal anomaly among live born infants, occurring at a frequency of one in 700 live births. Individuals with DS are at increased risk for several endocrinological conditions, including hypothyroidism, growth retardation, diabetes mellitus, and obesity. The reason for the increased risk of obesity in DS individuals is unclear, but several mechanisms have been suggested, including a decreased resting metabolic rate and differences in physical activity patterns. Obesity and related morbidity and mortality are emerging as important long term consequences, with the increase in the life expectancy of people with DS. Adipokines such as leptin, which is a hormone secreted by adipocytes, acting in the hypothalamus to suppress appetite and regulate body weight, have been implicated in the pathophysiology of obesity. Leptin is a hormone secreted by adipocytes, acting in the hypothalamus to suppress appetite and regulate body weight. In this book we tried to highlight the hormonal key players for the development of obesity in children with Down syndrome.
The Institute Of Clinical Psychology, University of Karachi was established in response to the dire need for mental health profession and the acute dearth of professional psychological services in Pakistan.The unit of speech therapy is running by Dr, Raheela Khatoon who conducts evaluation, diagnosis and treatment of pathologies that comes within the realm of major categories of speech and language disorders i.e., disorder of fluency (stuttering), articulation disorders, hearing impairment and speech & language-related pathologies in neurological disorders like aphasia, dysphasia dysartheria, & other cognitive disorders. Speech-language therapy test were developed for diagnosis and treatment of speech & language-related pathologies in adults and children. Dr. Raheela Khatoon also teach the speech therapy subject in Diploma of Rebabilition Childhood Disorders in institute of Clinical Psychology, University of Karachi.
The purpose of the study was to describe the communication of toddlers with Down syndrome in everyday routines with their caregivers within four intervention time points. Archival video data of caregiver-implemented language intervention from the KidTalk Tactics Project were used to describe the communication of three children, ages 12 to 20 months, measured at four time periods across caregiving, pre-academic, and play routines. Increases in the frequency of single words and multiple word phrases were evident for all children. Variability in the frequency of communication acts in different routines were noted. The results of this study contribute to the expanding literature on caregiver-implemented intervention in natural environments by examining the unique profiles of toddlers with Down syndrome and the context in which they participated with their caregivers.
Polycystic ovary syndrome (PCOS) is one of the main causes of female infertility. It affects 5-10% of women of reproductive age. Irregular menstrual cycle, insulin resistance and obesity are the key factors associated with PCOS. The relationship between various clinical parameters with PCOS is studied in detail. Various hormonal abnormalities like leutinising hormone, follicle stimulating hormone, prolactin, testosterone and estrogen levels are analyzed. The lipid parameters like low-density lipoprotein, high-density lipoprotein, very low-density lipoprotein and total cholesterol are also studied along with insulin, blood glucose and glucose challenge test. This book highlights the diagnostic utility of various biochemical parameters and the role of metformin as an insulin sensitizing agent in the treatment of PCOS.
Body Mass Index (BMI),waist circumference, hip circumference and waist to hip ratio have been used as pointers to obesity/overweight. These are usually interpretable with defined norms, and or reference values. Obesity/overweight is defined to predict health risks, and provide comparisons between populations. Several of these definitions exist for many countries, and scarcely for Nigeria. Heredity,environment,culture, race,ethnicity,are some factors affecting somatotype, which is described in terms of distribution of body composition, size and type. Somatotype is important in the definition of overweight/obesity, and therefore its reference values and norms. Measures of obesity in children and teenagers’ are therefore different from that of adult population, and internationally. This study provided data on BMI, waist circumference, waist to hip ratio, waist to height ratio, and presented reference values for obesity among Nigeria children, and adolescents. We reported that waist circumference revealed the highest percentage of obesity.
Metabolic Syndrome refers to the clustering of risk factors including obesity, elevated blood pressure (hypertension), elevated blood sugars, dyslipidaemia (high triglycerides & low HDL concentration) and hence increased risk for developing many serious medical conditions including type 2 diabetes, myocardial infarction, and stroke & early death. Lifestyle changes, one of the main factor, due to fast increasing urbanization, especially in developing countries like India, has led to the development of serious health problems like obesity, hypertension, diabetes, etc. which in turn lead to the complications like Metabolic Syndrome . About one third of the urban population in India’s major cities have Metabolic Syndrome. The National Cholesterol Education Program Adult Treatment Panel III simplified the definition of Metabolic Syndrome to make it user friendly for medical practitioners. Our study included faculty members of different professional streams using NCEP ATPIII criteria and was concluded that medical faculty had maximum percentage of subjects having Metabolic Syndrome. Early lifestyle modification leads to the reduction in these risk factors and hence to Metabolic Syndrome.
Childhood obesity continues to be a major health problem in the United States. The statistics are frightening nearly two out of three children who are obese as they enter kindergarten will remain obese as teenagers, and most of those will end up obese adults. Dr. Alvin Eden, a practicing pediatrician for many years, has put his knowledge and experience in dealing with this epidemic in Obesity Prevention in Children, an authoritative resource for anyone raising kids. Recipes and meal plans have been designed by leading nutritionist Sari Greaves.
This is a cross sectional study on 400 cases of diabetes mellitus who attended the National Diabetic centre/ AL–Mustensyria university for a period of 6 months. The main factor of metabolic syndrome was dysglycaemia followed by hypertension, obesity and dyslipidaemia. Females in this study were more prone to have metabolic syndrome; Male: Female ratio = 0.5. Those in the age group 60-69 have the highest frequency of metabolic syndrome. Those with BMI 30-40 have the highest frequency of metabolic syndrome. Conclusion: This study concludes that early diagnosis and aggressive treatment is needed for metabolic syndrome to avoid cardiovascular complications. This study is important because of its predictive power for cardiovascular complication and diabetes.
The metabolic syndrome a concurrence of disturbed glucose and insulin metabolism, overweight and abdominal fat distribution, dyslipidemia and hypertension, is associated with subsequent development of type 2 diabetes mellitus and cardiovascular disease (CVD). Despite its high prevalence in Asians, no national estimate is currently available on the metabolic syndrome in patients with acute myocardial infarction in Pakistan.A matched case control study using questionnaire and analysis of components of metabolic syndrome was carried out at tertiary care hospitals of Peshawar Pakhtunkhwa.The result showed that patients were 6.19 times more likely to have three or more diagnostic criteria of metabolic syndrome than the controls i.e. 55% vs 17%. This study contributed to the fact that metabolic syndrome is more common in patients with acute myocardial infarction. Screening of adults with central obesity for other parameters of the metabolic syndrome may help to reduce the prevalence of metabolic syndrome as well of myocardial infarction at an early age, which is the complication of metabolic syndrome.
Metabolic syndrome is associated with other risk factors and is associated with cardiovascular disease. Obesity is a risk factor for chronic kidney disease (CKD) . Perception mechanisms linking obesity and chronic kidney disease are important not only of the social health burden of both conditions, but also, due to novel insights into the underlying mechanisms may lead to new strategies to treat or prevent chronic kidney disease and its associated comorbidities. More developed countries are facing an obesity epidemic and growing.experience rapid increase in the prevalence because this age group experienced the greatest burden of chronic kidney disease (CKD), and cardiovascular disease, malignancy, that each of them may be aggravated with obesity. Obesity is almost certainly indirectly contributes to chronic kidney disease due to associates with many major CKD risk factors such as diabetes, high blood pressure, and atherosclerosis. Cystatin C has recently been shown as an accurate indicator of glomerular filtration rate with benefits than serum creatinine . Glomerular filtration rate is the best overall index of renal function in health and disease.
Down’s syndrome (DS) is a genetic disorder in which there is a trisomy of 21st chromosome. Speech errors are common with larger number of phonological processes in children with Down’s syndrome, with delays characteristic of developmentally younger children at a similar language level. Present study aimed at comparing the phonological accuracy scores in Kannada speaking Down’s syndrome and language age matched normal children. Two groups of children were included in the study. Group one had children with Down’s syndrome (n = 35), of chronological age of 6-15 years while Group two consisted of age matched normal children (n = 60). A picture naming task was used to elicit the response. The sample was analysed for phonological accuracy measures of Percentage of Consonant Correct (PCC), Process Density Index (PDI), Percentage of Vowel Correct (PVC), and Percentage of Phoneme Correct (PPC). It was found that children with Down’s syndrome showed lesser scores in all the measures exclusive of PVC when compared with the language and age matched controls. It was found to be a delay rather than deviation in phonological development.
The study aimed to explore how three dimensions of BJW, personal, ultimate and immanent, relate to well-being in mothers of normal and Down syndrome children. It was assumed that personal BJW and belief in ultimate justice will be positively related with life satisfaction and mood level and negatively related with depression and anxiety in both groups of mothers. Moreover, these relationships would be stronger for mothers of a Down syndrome child compared to mothers of normal children. A set of hierarchical regression analyses revealed that personal BJW was the strongest predictor of all aspects of well-being. Belief in ultimate justice was negatively related to anxiety in mothers of a Down syndrome child while it was positively related to anxiety in mothers of normal children. Contrary to the expectations, belief in immanent justice was positively related to life satisfaction and mood level in the two groups of mothers. The pattern of results persisted when controlled for demographic and psychological factors. The findings support the role of personal BJW as a personal resource in adverse as well as in normal circumstances.
Down syndrome is one of the most important causes of mental retardation in the population. In the absence of prenatal screening and diagnosis, prevalence at birth in the United States would currently exceed 1: 600. the purpose of prenatal screening is to identify those women at the increased risk for an affected pregnancy and to maximize the options available to these women. Tests available: second trimester serum screening involves combing the maternal age- specific risk for an affected pregnancy with the risks associated with the concentrations of maternal serum alpha- fetoprotein (MSAFP), unconjugated estriol (uE3), and human chorionic gonadotrophin (hCG) (triple testing). A forth analyte, inhibin-A, (Inh-A), is increasly being utilize (quadruple testing). Optimal second trimester screening requires the integration of a number of clinical variables, the most important of which is an accurate assessment of gestational age. In addition to Down Syndrome, the triple and Quadruple tests preferentially identify fetal trisomy 18, Turner syndrome, Triploidy, Trisomy 16 mosaicism, fetal death, Smith- Lemli- Opitz Syndrome, and steroid sulfatease deficiency.
Obesity is a global epidemic affecting over 1.5 billion people and is one of the risk factors for several diseases such as Type 2 diabetes mellitus and hypertension. Despite measures taken by public health authorities to control obesity, number of people affected with obesity and its related disorders are increasing at alarming rate. It is imperative therefore to understand the molecular pathophysiology of obesity prior to undertaking any containment measures. This book summarizes our research work for developing a system with the capability to mine an extensive corpus of scientific articles and produce a network of genes implicated in a given disease. The system has been developed taking Obesity as a test case. The constructed network holds a central place in understanding the pathophysiology of Obesity and will serve as an important tool for the identification of drug targets. This work has been further extended to seven other obesity related disorders (Diabetes Mellitus II, Cholelithiasis, Hypertension, Hyperlipidemia, Polycystic Ovarian Syndrome, Osteoarthritis and Fatty Liver) and four control sets (Rheumatoid Arthritis, Contact Dermatitis, Asthma and Urticaria).
The aim of this work is to conduct a systemic overview and critical analysis of the body of data in the literature on polycystic ovary syndrome (PCOS). PCOS is the commonest single cause of anovulation; affecting approximately 5-10% of women in the reproductive age. The syndrome can present in a variety of clinical manifestations including oligomenorrhea, hirsutism, obesity, and infertility. Endocrinal features include high sustained level of luteinizing hormone with normal level of follicle stimulating hormone, and hyperandrogenism. PCOS may be also associated with hyperinsulinemia, glucose intolerance, and altered lipid profile. Medical induction of ovulation is considered the first line of treatment for anovulatory PCOS. Laparoscopic ovarian drilling may be of value in women resistant to medical induction. However, the efficacy and long-term safety this technique is not yet established.