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Disease and Genetic Disorder for the Human Body Systems - Essay Example

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The paper "Disease and Genetic Disorder for the Human Body Systems" discusses that one in every 2500 female births is affected by the condition. High maternal age believed to be one of the risk factors. Nearly all the women with Turner syndrome are infertile…
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Disease and Genetic Disorder for the Human Body Systems
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Diseases Cardiovascular diseases involve the heart and the blood vessels. Myocardial infarction Myocardial infarction generally known as Heart Attack is a cardiovascular disease occurs when the coronary arteries, which supply blood to the heart, are blocked. This is the number one cause of death in developed countries. The blockage short supplies blood to the heart causing the death of the part of the heart tissue and can be fatal if not treated immediately. Major reasons for the blockage are blood clots and lipid deposits. The most common symptom are chest pain and tightness often radiates to left arm. Aspirin and heparin are given immediately as anticoagulants to inhibit further blood clots. Electrocardiography and angiography are frequently used to diagnose the disease. As a treatment, coronary artery bypass graft surgery (CABG) is performed if the number of affected arteries and extend of the blockage is high. Low fat diet (specially saturated fats), maintain of healthy body weight and regular physical activities help in preventing the disease. Hypertrophic cardiomyopathy – Hypertrophic cardiomyopathy is a genetic disorder in which the proteins of the cardiac muscles become thick (hypertrophy) results in a sudden death at any age. This is caused by the mutations in the genes responsible for myosin chains which is a major component of the heart muscle. Thickening of the heart muscle reduce the blood outflow and increase the ventricular pressure. The prevalance of Hypertrophic cardiomyopathy ranges from 0.2% to 0.5% in the general population. Main symptoms are dyspnea, chest pain, lightheadedness and fatigue. Echocardiography, cardiac catheterization, or cardiac MRI are used to diagnosis the disease. Treatments include regular drugs such as beta blockers and calcium channel blockers. Septal myectomy is performed to the patients with severe symptoms and high risk of sudden death to reduce the thickness of the heart muscle. Diseases in the lymphatic and immune system. lymphatic filariasis (Elephantiasis) lymphatic filariasis is a parasitic infectious disease which affects the lymphatic system. The responsible parasite microfilariae a tread like worms usually transmitted by mosquito bites. They can reproduce and multiply in the blood stream for a long time and move to the lymphatic system. This can be advanced in to much more complex situation called Elephantiasis where the parasites die and block the vessels causing permanent damages to the lymphatic vessels. It is believed this has been affecting human for about 1500-4000 years. In this advanced stage lymphatic vessels and nodes get blocked by the dead parasites. Since the lymphatic fluid cannot be drained properly due to the blockages limbs get swelled and disfigured. At this stage the disfiguration and swelling cannot be reversed. However at early stages when there is small swelling the infection can be cured. Diagnosis is usually done by a blood test. Leukemia Leukemia is a genetic disorder of bone marrow which produces extremely high number of defective or immature leucocytes. The acute form is mostly seen in children and fatal if left untreated. Vast numbers of leucocytes are produced and spread all over the body impairing the functions of organs and human systems. Like in cancer a somatic mutation in DNA affect the regulation of white blood cells. This can be diagnosed by a blood test for abnormality in number or morphology. Common symptoms are chills, fatigue, anemia, swollen glands etc. Radiation therapy, drugs and bone marrow transplantation are the conventional treatments. Bone marrow transplantation which promises cure requires intense aftercare. This has multiple causes such as some chemicals, hereditary and some viruses. The overall 5 year survival rate is about 50% and children claim the highest rate of survival. Respiratory diseases Tuberculosis Tuberculosis is an infectious disease in the lungs caused mainly by mycobacterium tuberculosis. The disease usually spread via air from an infected person to another while sneezing or spitting. Geographically this can be frequently seen in Asian and African regions. The responsible bacteria reach the pulmonary alveoli and multiply, blocking and damaging the alveolus. Thereby infected individual experiences breathing difficulties and severe prolonged cough. This bacteria further spreads to the other organs such as brain, kidneys and bones via lymphatic system. The disease is deadly if untreated and claims fatality rate of 50% in untreated patients. Common symptoms consisted prolonged coughing, coughing with blood, fatigue, and fever and weight loss although some cases are asymptomatic. Diagnosis can be done using sputum, pus or X-Ray. Rifampicin and isoniazid are the most common drugs that are prescribed for six to twelve months to kill the bacteria. Asthma Asthma is a chronic respiratory disorder in the respiratory system which can cause inflammation, excess mucus formation and obstruct the airways to the point that the affected individual feels breathing difficulties. It is found that the genetic mutations of the genes involving the immunity system cause the disease in some individuals. However in most situations symptoms are not shown until an environmental triggering factor involves in. Dust, respiratory infections, stress, allergens and pollutants act as triggering factors. Some individual improves the severity of the symptoms with the age. Diagnosis is made studying the attack history and symptoms. Avoidance of the known triggering factors is a preventive measure for long term asthmatic attacks. Inhalers containing rapid acting bronchodilators are recommended for the children and individuals vulnerable for asthmatic attacks for quick relief from the symptoms. Diseases in the digestive tract Diverticulitis Diverticulitis is a painful disease condition in the large intestine. Diverticulas are small pouches extended outside of the colon. The main cause for this condition is high pressure applied on the intestine wall during the process of defecation. Food or fecal particles can clog these pouches trapping the microorganisms inside, leading to an infection. Abdominal pain, fever, nausea, and diarrhea are the common symptoms. Elevated levels of white blood cells can be seen in these patients. Diet with low soluble fiber and high refine food such as white bread make defecation and intestine cleaning more difficult leading diverticulitis. Self reported symptoms and computed tomography (CT scan) are used to diagnose the condition. Antibiotics anti-inflammatory drugs and bowel rest associated with healthy eating habits are basic treatments. However advanced conditions like fistula and recurrent attacks require a surgery. Crohn’s disease Crohn’s disease is an inflammatory bowel disease which has a strong genetic link. This can affect the any part of the digestive tract from oral cavity to anus. As in any autoimmune diseases the own immunity system attacks parts of the gastrointestinal track for no specific reason causing inflammation, obstructions, abscesses and damages. Ulcers are formed in the inflammatory sites. Usual onset of the disease lies between ages 15-30, although anyone could be affected. This is an uncomfortable condition reduces the quality of life. Unfortunately this condition is lacking medical treatments and the affected individuals have to manage symptoms using medicines. Some individuals with recurrent episodes, fistula, obstructions and abscesses have to surgically remove the affected part or parts which can lead to short bowel syndrome. Prevalence rate is ranging from 1-7 per 100,000 in different regions. Disease in urinary tract Urinary tract infections In normal condition urine does not contain bacteria. However in urinary tract infections microorganisms enter in to the urinary tract (bladder or kidney) and multiply causing problems. Sexually active women, people with diabetes and people with structural abnormalities in the urinary tract are more prone to contact the disease. Common symptoms are lower abdominal pain, burning sensation and frequent urination although some cases are asymptomatic. The infection can spread to the kidneys resulting very uncomfortable lower back pain and fever. Urinary infection can be diagnosed using a urine test or blood test. Irrespective to the uncomfortable symptoms this can be easily cured with 3-5-day prescription of antibiotics. However kidney infections can cause serious consequences such as kidney abscess. Personal hygiene plays a major role in preventing recurrence infections. Increased water intake and frequent urination help to reduce the microbial load. Goodpasture’s syndrome Goodpasture’s syndrome is an autoimmune disorder in kidneys and lungs. Dr Ernest Goodpasture an American pathologist first reported this disorder in 1919. Kidney and lung cells have an antigen called Goodpasture antigen. Due to genetic mutations in the immune system, these cells containing the antigen are attacked by the immune system rapidly destroying the kidney and lung cells. Glomerulus are the mostly affected component in the kidney and this leads to nephritis. Due to the damage blood mixes with the urine and urea, toxins and other byproducts retain in the blood stream. Edema, blood in urine, hypertension proteinuria, and reduction in the urine volume are common symptoms. Due to rapid destruction and general early symptoms, correct diagnosis is mostly done in the late stages. As in renal failure these patients are also treated with blood purification (renal dialysis) and renal transplant. Diseases in the reproductive system Infertility Infertility is a condition in which a male or a female cannot conceive while they do not use contraceptive and engage in regular sexual intercourse. If a couple cannot conceive within 12 months it is considered to be an abnormal condition for women below 35 years and women older than 35 years are advised to seek medical treatment after trying to conceive for 6 months. Common causes are immature female eggs, blockages in the fallopian tubes, low sperm count, high maternal age, stress etc. In general about 10% of the people who are at reproductive age are infertile. As treatments drugs are given to stimulate the production of eggs. In vitro fertilization (IVF) is performed for the couples who cannot conceive even after the drug therapy. Hormonal therapy is performed if the female have any hormonal imbalances. From all cases of the infertility females contribute to one third and males contribute to one third while rest have unknown causes. Turner syndrome Is a chromosomal abnormality in which females only have one X chromosome instead of XX. These females show physical abnormalities such as short stature, lymph edema, broad chest etc. They are more prone to have congenital heart disease, ophthalmologic problems, infertility and memory problems. Henry Turner in 1938 first mentioned about the disease. One in every 2500 female births is affected by the condition. High maternal age believed to be one of the risk factors. Nearly all the women with Turner syndrome are infertile. This condition sometimes can be diagnosed during the pregnancy using ultrasound. Hormone therapy is used to facilitate the normal growth and secondary sexual characteristics. Many women with Turner syndrome can spend nearly normal life. References 1. Jensen G, Nyboe J, Appleyard M, Schnohr P. "Risk factors for acute myocardial infarction in Copenhagen, II: Smoking, alcohol intake, physical activity, obesity, oral contraception, diabetes, lipids, and blood pressure". Eur Heart J 1991; 12 (3): 298–308. 2. Cause of Death - UC Atlas of Global Inequality. Center for Global, International and Regional Studies (CGIRS) at the University of California Santa Cruz. Retrieved on 20 Oct 2008. 3. Wigle ED, Sasson Z, Henderson MA. Hypertrophic cardiomyopathy. The importance of the site and the extent of hypertrophy. A review. Prog Cardiovasc Dis.1985; 28 (1): 1–83. 4. Dreyer H. Basic Lymphoedema Management: Treatment and Prevent of Problems Associated with Lymphatic Filariasis. Hollis NH. Hollis Publishing Company 2002.. 5. Vhi Healthcare. Elephantitis: Causes, Symptoms and Definition. 2003. Retrieved Oct 20, 2008 from http://www.raintree-health.co.uk/cgi-bin/getpage.pl?/data/elephantitis.html 6. Fausel C. "Targeted chronic myeloid leukemia therapy: seeking a cure". J Manag Care Pharm. 2007;(8 Suppl A): 8–12. 7. Centers for Disease Control and Prevention (CDC), Division of Tuberculosis Elimination. Core Curriculum on Tuberculosis: What the Clinician Should Know. 4th edition (2000). Updated August 2003 8. Asthma and Allergy Foundation of America. Asthma: What Causes Asthma. 2008-10-27 Retrieved on http://www.aafa.org/display.cfm?id=8&cont=6. 9. Moum, B.; M. H. Vatn, A. Ekbom, E. Aadland, O. Fausa, I. Lygren, N. Stray, J. Sauar, T. Schulz (1996). Incidence of Crohns disease in four counties in southeastern Norway, 1990-93. A prospective population-based study. The Inflammatory Bowel South-Eastern Norway (IBSEN) Study Group of Gastroenterologists. Scandinavian Journal of Gastroenterology. 1996 ; 31 (4): 355–61. 10. Adult Health Advisor. Bacteria in Urine, No Symptoms (Asymptomatic Bacteriuria).27- 10 -2008 retrieved from http://www.med.umich.edu/1libr/aha/aha_asybac_crs.htm 11. Salama AD, Levy JB, Lightstone L, Pusey CD. Goodpastures disease. Lancet. September 2001;358 (9285): 917–20 12. Domar A D, Clapp D, Slawsby EA, Dusek J, Kessel B, Freizinger M. Impact of group psychological interventions on pregnancy rates in infertile women. Fertil Steril 2000; 73(4):805-11 13. Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH. "A sex-chromosome anomaly in a case of gonadal dysgenesis (Turners syndrome)". Lancet. April 4, 1959;273 (7075): 711–3. Read More
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