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Nursing : Copy Of Chromosome

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Nursing : Copy Of Chromosome

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Nursing : Copy Of Chromosome

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Question:
Describe aboutn the Nursing for Copy of Chromosome.
 
Answer:
Down syndrome

Down syndrome is a genetic disorder, which occurs due to the presence of all or a part of the third copy of chromosome 21. Therefore, this disease is sometimes called as trisomy 21 (Norton et al., 2012). The occurrence of the extra chromosome is a random chance it has no connection with the fact that the parents are genetically normal or not. A normal baby has 46 chromosome 23 from the mother and 23 from the father, but a DS (Down Syndrome) baby have 47 chromosome instead of 46 due to the presence of an extra chromosome 21 (Gersen 2013). Though there is no established evidence of the reason behind DS certain scientist believe that the chances to have a DS baby increase with the increase in the age of the mother. Some statistical study shows that a woman of age 30 have a chance to give birth 1 DS baby for every 1000 baby, and it increases to 1 for every 400 at the age of 35 and 1 for every 100 at the age of 40 (Lozano et al., 2013).  In this disease, the physical growth of the patient is delayed along with some characteristic facial features and intellectual disabilities. A Down Syndrome kid has a flat facial profile, small ears, protruding tongue and upward slant of eyes. Some children have a Hypotonia that is low muscle tone (Cox & Butler 2015). The DS babies learn to sit, crawl, and walk very late in comparison to the normal babies. The DS babies are usually of average size, but they grow at a slower rate. Due to low muscle tone, the DS babies have to face a feeding, sucking, digestive and constipation problems. By using prenatal screening followed by diagnostic testing Down syndrome can be identified during pregnancy. In detecting Down syndrome and other chromosomal abnormalities, the diagnostic test is about 99 percent accurate. As this test are performed inside the uterus, there remains a chance of complication like miscarriage. For this reason, invasive diagnostic test is recommended for the women of age 35 or older. Genetic testing and direct observation after birth can also identify it. After a baby is born if the doctor suspect that the baby has DS, tissue or blood sample may be tested to investigate the chromosome group number, size, and shape.
There is no cure for Down syndrome. Proper care and education should be given to the patients to improve the quality of their life. DS affect the kid’s ability to learn in different ways but still they are capable of developing their skill and learn new thing throughout their life.  It is very difficult to say what a DS child will be capable of as they grow up. Over 50 percent of the DS children have a congenital heart defect and problems with hearing and vision. Other medical condition a DS child has to face includes intestinal, stomach, and thyroid problems. Fortunately, some of this condition are treatable. The parents of a DS child must not feel guilt, loss, and fear. Talking to the parents of the other DS children may be helpful in overcoming the grief and shock. It will also help the parents to look towards the future. The parents may appoint early childhood educators and speech therapist to accelerate and encourage the development of the child.  The government provides free early intervention services to the disable child from birth to the age of 3 in many states. So it is necessary for the parents to consult a doctor or a social worker to know more about the resources government is providing in their local area for the children with disabilities. There are more than 13000 DS in Australia and only 5-15 percent of the children with DS attend regular school. Recent studies of 2010 show that globally about 1 per 1000 births are DS and about 17000 deaths (Bellomo & Schneider 2014). Children with DS are born more in the countries where abortion is not allowed and where pregnancy occurs more commonly at the later age. Some time people argue that the screening for DS is unethical though it is a medically reasonable procedure. The people should be made aware of this and the choice be should of the woman that how much and how little screening she wishes to be done. If the result is positive then the parents should be allowed to choose freely what to do because it is the question of their good-being.
 
Chronic illness-Diabetes Mellitus
The biggest challenge to Australian Institute of Health and Welfare is Diabetes Mellitus (Saqf el Hait et al., 2013). It is a chronic condition in which there is an increase in the glucose level in blood. It occurs due to the inability of the body to produce a hormone insulin or due to the body being unable to use insulin effectively. There are mainly three types of Diabetes. They are
Diabetes Type 1, Diabetes Type 2, and the third one is Gestational Diabetes (Nankerviset al., 2012).
Diabetes Type 1
This type of Diabetes starts at childhood and is a lifelong autoimmune disease which occurs when the cells present in pancreas which produce insulin are destroyed by the body’s immune system (Samuelsson, Steineck,  & Gubbjornsdottir, 2014). Due to the absence of insulin, the glucose molecule cannot be transported into the cells and as a result, the blood glucose level starts to increase. Though the exact cause of Diabetes type 1 is unknown but some doctors believe that there is some relation with some environmental factors and genetic predisposition. Diabetes type 1 can occur at any age, but it commonly occurs during adolescence and childhood. This is unpreventable, and it is very essential to replace the insulin for the survival of the patient, in some cases, there is a scope of pancreas transplantation otherwise insulin have to be monitored to the patient on a daily basis throughout his whole life.
Diabetes Type 2
It is the most common form of the disease, and it is preventable by just following a healthy lifestyle. This type of diabetes mainly occurs when the body is unable produces insulin in an adequate amount to meet the body’s need or if the body becomes resistant to the insulin produced by the pancreas. Sometimes insulin is also used in the treatment of Diabetes Type 2 but not in every case. At first, to maintain the blood glucose at the normal level the patient are given oral glucose-lowering medication, they are advised to modify their life style. The modification includes physical activity, health diet, decrease high blood pressure, high blood lipids, reduce smoking, tobacco intake, and obesity.
Gestational Diabetes
This type of Diabetes involves the appearance of the high level of blood sugar for the first time during pregnancy. Normally it is found in the woman who is not been diagnosed with other form of diabetes in their second and third trimester. It sometimes creates a complication for both the baby and the mother. In some cases, both the mother and the baby may develop, Diabetes Type 2 in later life. Some woman requires insulin treatment and some woman manage their gestational diabetes by making changes to their exercise and diet. Woman with Type 1 and Type 2 Diabetes can have pregnancy and normal delivery with no effects on the health of the mother and baby, and there is may be no complication during the delivery. With the good planning, they can have an excellent control of blood pressure and a healthy pregnancy. There is no risk for mothers having Diabetes to breastfeed their babies. But the doses of the insulin should be lowered during this time.
Diabetes is considered as 21st century’s epidemic in Australia and the biggest challenge for Australian health system. Every day 280 Australian develop Diabetes this means that in every five minutes one person develops Diabetes. More than 1.7 million people in Australia have Diabetes (Harding et al., 2016). In the year 2015, more than 100000 people in Australia have developed Diabetes (Chatterjee et al., 2016). The fastest growing Chronic illness of Australia is Diabetes (Hamar et al., 2015). Among all the diabetes patient 10 percent are of Diabetes Type 1, 85 percent are of Diabetes type 2 and 5 percent are Gestational Diabetes. As there is no effective cure for Diabetes one can live an enjoyable life just by learning about the ways to manage it. Diabetic people should avoid foods having a high amount of calories, saturated fats, and sodium because high amounts of saturated fats and sodium lead to unwanted weight gain and severe heart disease, which may sometimes be fatal.
In the year 2014, 29,435 people have started using insulin to treat their Diabetes. Peoples having type 2 Diabetes are given medication including insulin so that their blood glucose level gets controlled. Most of these medications are in the form of tablets or injection. But these are not an oral form of insulin. In current times certain classes of drugs are there which are used by the people of Australia who have Type 2 Diabetes for lowering their  blood glucose level. The familiar names of these tablets are Alpha-glucosidase inhibitors (acarbose), thiazolidinediones (glitazones), sulphonylureas, and biguanides (Patel 2014). But this medicine should be used along with physical exercise and healthy food habits. All people having Diabetes must check their glucose level on a regular basis.
 
Reference:
Norton, M. E., Brar, H., Weiss, J., Karimi, A., Laurent, L. C., Caughey, A. B., … & Lee, H. (2012). Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. American journal of obstetrics and gynecology,207(2), 137-e1.
Gersen, S. L. (2013). History of Clinical Cytogenetics. In The Principles of Clinical Cytogenetics (pp. 3-8). Springer New York.
Lozano, R., Naghavi, M., Foreman, K., Lim, S., Shibuya, K., Aboyans, V., … & AlMazroa, M. A. (2013). Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010. The Lancet, 380(9859), 2095-2128.
Cox, D. M., & Butler, M. G. (2015). Distal Partial Trisomy 15q26 and Partial Monosomy 16p13. 3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities. Cytogenetic and genome research, 145(1), 29-34.
Nankervis, A., McIntyre, H. D., Moses, R., Ross, G. P., Callaway, L., Porter, C., & Jeffries, W. (2012). Australasian Diabetes in Pregnancy Society (ADIPS) consensus guidelines for the testing and diagnosis of gestational diabetes mellitus in Australia.
Saqf el Hait, S., Basheti, I. A., McLachlan, A. J., Overland, J., & Chaar, B. (2013). The role of pharmacists in the management of Arabic‐speaking people with diabetes mellitus: a systematic review. Journal of Pharmaceutical Health Services Research, 4(4), 239-248.
Samuelsson, U., Steineck, I., & Gubbjornsdottir, S. (2014). A high mean‐HbA1c value 3–15 months after diagnosis of type 1 diabetes in childhood is related to metabolic control, macroalbuminuria, and retinopathy in early adulthood—a pilot study using two nation‐wide population based quality registries. Pediatric diabetes, 15(3), 229-235.
Harding, J. L., Shaw, J. E., Peeters, A., Davidson, S., & Magliano, D. J. (2016). Age-Specific Trends From 2000–2011 in All-Cause and Cause-Specific Mortality in Type 1 and Type 2 Diabetes: A Cohort Study of More Than One Million People. Diabetes care, dc152308.
Chatterjee, S., Peters, S. A., Woodward, M., Arango, S. M., Batty, G. D., Beckett, N., … & Hassing, L. B. (2016). Type 2 diabetes as a risk factor for dementia in women compared with men: A pooled analysis of 2.3 million people comprising more than 100,000 cases of dementia. Diabetes care,39(2), 300-307.
Bellomo, R., & Schneider, A. G. (2014). The real cost of conventional hemodialysis in critically ill patients. Critical care medicine, 42(4), 990-991.
Patel, I. B. (2014). MEDICATION USE AND HEALTHCARE OUTCOMES IN DEVELOPMENTALLY DISABLED MEDICAID ADULTS WITH TYPE 2 DIABETES: A QUANTITATIVE RACE BASED ANALYSIS (Doctoral dissertation, University of Michigan).
Hamar, G. B., Rula, E. Y., Coberley, C., Pope, J. E., & Larkin, S. (2015). Long-term impact of a chronic disease management program on hospital utilization and cost in an Australian population with heart disease or diabetes. BMC health services research, 15(1), 1.

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