Health and Disease
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Health and Disease
Question One
I would diagnose Kate with Noonan syndrome since her features match the characteristics of the condition. Noonan syndrome is caused by genetic mutation and is developed when a child inherits a duplicate of an affected gene from a parent who is referred to as dominant inheritance. The defects of the gene acquired from the parent cause the production of continually active proteins. Since these genes play a role in the development of many tissues in the body, the constant activation of proteins disrupts the normal growth and division process of cells. Children who have a parent who carries the defective gene have a 50% of also acquiring the condition. The mutations that (Tafazoli et al. 2017) cause Noonan syndrome can also be random in that new mutation in children c that does not have parents with a genetic disorder can develop the disease.
The biggest risk factor of this syndrome is that children with parents who have the syndrome have a 50% possibility of acquiring the syndrome. People with the disorder may also have heart defects, which are very risky as the heart is a susceptible organ of the body. The disease will affect Kate in different ways; for instance, she may have heart defects, short stature, developmental delays, and unusual facial characteristics. She may also develop skin conditions that affect the color and texture of the skin. Kate may also have learning disabilities, as intelligence is affected by most people with the condition. Due to this, Kate may face stigma, and she may also develop low self-esteem as she will appear to be different from other people. Though it may be hard to diagnose the syndrome before a child is born, it is possible to test for the syndrome. Test 451890 can be done to determine prenatal Noonan syndrome while the child is still in the mother’s womb. The tests involve coding of the nucleotides of 19 genes.
Question Two
Huntington disease is an example of an autosomal dominant disease. It is a progressive brain disease that leads to uncontrolled movements, loss of thinking ability, and also emotional problems of the patient. It is caused by the inheritance of a single gene that has defects. A parent with the defective gene could either pass the healthy copy or the defective copy. Each child in the family, therefore, has a 50% possibility of acquiring the defective gene. The symptoms include movement disorders such s slow and abnormal eye movements. A person with the disease may also develop cognitive dysfunction where one has difficulties in organizing and focusing on tasks. Psychiatric disorders are also symptoms where the person, for instance, is socially withdrawn and may experience insomnia (Krupanidhi et al. 2019). A diagnosis of the order is mostly confirmed by a genetic test where the presence of the abnormally expanded HTT gene is checked. It can be treated through the issuing of tranquilizer antidepressants and antipsychotic drugs.
Sickle cell anemia is an autosomal recessive disease caused by abnormal hemoglobin that causes red blood cells to become sticky, rigid, and misshapen. For the child to be affected, both the father and mother have to pass the gene. If one parent passes the gene, then the child will have a sickle cell trait. The signs symptoms include episodes of pain, anemia, delayed growth, vision problems, frequent infections, and swelling of hands and feet. Sickle cell anemia can be diagnosed by a blood test checking for the defective form of hemoglobin. Treatments may include medications and blood transfusions.
Hemophilia is a sex-linked disorder that is caused by a genetic deficiency in a clotting factor. It mostly affects males and causes excessive bleeding; the signs and symptoms include blood in the urine and stool, bleeding gums, frequent nose bleeds, deep bruises, and pain in the joints. It is diagnosed through a blood test from the vain, after which the amount of clotting factor present is determined. It can be treated by administering clot preserving medications, decompressing, and fibrin sealants and also through physical therapy.
Question Three
In the case of symptoms such as high fever and chills and a heart murmur, sepsis disease should be considered. It is a life-threatening condition that can be prompted by an infection or an injury. In this case, the 12-year-old child had fallen off his bike and ripped his knee, which therefore acts as a trigger. The disease can be caused by pneumonia, infection in the kidney or digestive system, or even bloodstream infection. It is divided into three stages, which are sepsis, severe sepsis, and finally, sepsis shock. People with severe sepsis and sepsis shock are considered to be very ill since the disease affects vital organs. However, if sepsis is identified at the early stages, it is treatable, and in most cases, there is full recovery with no lasting problems.
Heart valve disease is a congenital heart disease that is mostly associated with heart murmurs. Heart valve problems can be present at birth, or they can be caused by infections, heart disease, heart attack, or heart damage. The most common sign of the heart valve disease is a heart murmur, but one may have a heart murmur without having the disease (Walters, 2018). Other symptoms of the disease include palpitations, rapid weight gain, palpitations and weakness and dizziness of the victim. The risk factors of the disease include high blood cholesterol, lack of physical activity, high blood pressure, and overweight or obesity.
Echocardiography is the main test used to diagnose the heart condition. A chest x-ray may be used to expose certain signs of the condition, and if they are seen, then echo is used to confirm the diagnosis of heart valve disease. The disease has no cure, but a change in lifestyle and medication can play a significant role in managing the condition. The changes in lifestyle and medication can treat the symptoms and delay problems for several years. If the condition is not controlled, one may eventually have to undergo surgery to either repair or replace the faulty valve.
Question Four
The patient could be experiencing a heart attack as some of his symptoms match those of a heart attack. Some of the signs and symptoms of a heart attack include cold sweat, fatigue, shortness of breath, nausea, heartburn, indigestion, aching sensation in one’s chest or arms, and sudden dizziness. The 59-year-old man experienced chest pain, a pain that was crushing, and radiation to his left arm and jaw. All the signs experienced by the man are signs of a heart attack, which makes it highly likely that the man was suffering from a heart attack. A heart attack occurs as a result of the blockage of one or more coronary arteries. Coronary heart disease is one of the leading causes of a heart attack. The blockage occurs as a result of the major blood vessels that supply blood to the heart-clogging due to cholesterol deposits. The deposits are known as plaques. The lifestyle of a person, especially in food, can, therefore, be a cause of the cholesterol deposits.
The diagnosis of a heart attack includes tests like electrocardiogram 9ECG) tests and blood tests. ECG is done to determine the electoral activity of a patient’s heart through electrodes that are attached to his skin. Impulses are then recorded, which are printed on a paper or recorded on a monitor. A heart attack will be seen where there is no conduction of electrical impulses by some muscles of the heart, the blood tests carried out are tested for the princesses of proteins that may have leaked after damage from a heart attack. Other tests, such as chest x-ray and angiogram, may also be performed for the diagnosis of the disease.
A heart attack may be treated through medications, for instance, aspirins, antiplatelet agents, thrombolysis, and also pain relievers. Surgical and other procedures may also be performed, for example, coronary artery bypass surgery that may be performed in cases of emergency (Chau et al. 2018). Cardiac rehabilitation may also be done, which focuses on four key areas. The key areas include medications, emotional issues, lifestyle changes, and return to normal life by the patients. The rehab is essential as it has been proven that individuals who participate live longer, and the chances of them having another heart attack are lower.
References
Chau, P. H., Moe, G., Lee, S. Y., Woo, J., Leung, A. Y., Chow, C. M., … & Zerwic, J. (2018). Low level of knowledge of heart attack symptoms and inappropriate anticipated treatment-seeking behavior among older Chinese: a cross-sectional survey. J Epidemiol Community Health, 72(7), 645-652.
Krupanidhi Srirama, J. V., Tejaswi, K., & Thanmayi, M. N. (2019). Huntington’s chorea, a neurological disorder of all ages–Bioinformatics approach for its precise diagnosis. International journal of health sciences, 13(6), 26.
Tafazoli, A., Eshraghi, P., Koleti, Z. K., & Abbaszadegan, M. (2017). Noonan syndrome–a new survey. Archives of medical science: AMS, 13(1), 215.
Walters, E. (2018). Raising awareness for sepsis, sepsis screening, early recognition, and treatment in the emergency department. Journal of Emergency Nursing, 44(3), 224-227.