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Impact of Williams syndrome on healthcare
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A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome. Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
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...consequences of having Williams Syndrome. Some examples would be that a type of cardiovascular disease will soon follow Williams Syndrome called Supravalvular Aortic Stenosis. Resulting ones largest blood vessel to get narrower and narrower causing the person to catch ones breath very often even if not exercising , abdominal pain, and sometimes if fatal heart failure. Furthermore Williams Syndrome is not a disorder that is to be thought of kindly. Just because it occurs 1 in 10,000 people does not mean it is not deadly. It has been estimated that 82 percent of people who die of Supravalvular Aortic Stenosis disease (a disease that follows Williams Syndrome) are 65 and older. And b2cause there are no cures for William syndrome even with the help of today’s modern science and technology people with it must be monitored and treated for symptoms throughout their lives.
The Supreme Court of Canada. Judgement by McLachlin J. Also present: Lamer C.J. and L’Heureux Dubé, Gonthier, Cory, Iacobucci, Major, Bastarache and Binnie JJ.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013). Hearing loss, abnormalities with pigmentation of hair, eyes, and skin and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments of the symptoms of it as well.
As said before DMD weakens the diaphragm and intercostal muscles. These muscles aid in respiration, therefore he has a difficult time expanding his lungs making him prone to infections. Also, since he cannot control his respiratory muscles it may cause him to swallow food and aspirate it into his lungs creating obstructions in his respiratory tract. There may be a lot of different pulmonary infections James is going to be prone to because of this.
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
Genetic diseases are diseases passed down through heredity and genes. Tourette Syndrome is one of the more common genetic diseases. Although it is made fun of in television and movies, Tourette Syndrome is a very serious disorder.
The primary concern for Mr. Miller would be preventing further ischemia and necrosis of the myocardial tissues, preventing serious complications such as cardiac dysrhythmias and heart failure, as well as relieving his chest pain that radiates to his left arm. Preventing further ischemia and necrosis of the myocardial tissue will help prevent the development of heart failure due to myocardial infarction, whereas relieving his pain will help reduce his episodes of shortness of breath, and will also help to reduce any anxiety and restlessness he may be having from being in pain and short of breath.
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
A family from the U.S.A. could not bare a child passed the age of six. The mother had a disease called leigh syndrome. This is a progressive neurological disorder that produces a loss of movement and mental function. Most children during childhood. Leigh syndrome has an extremely high mortality rate, but U.S. scientists found a way to cheat the facts. But is this “cheat” or risk beneficial, or concerning to society?
We live in a world with advanced sciences and technology, but the cause and prevention of this syndrome is unknown. Sadly there is no tests that can detected the if the child is born or will develop this syndrome. Parents should always learn and be aware of the risks of this syndrome. I believe that with more research there will be a soon an explanation for this syndrome. I hope it is found soon because no parent should suffer from losing a
This was a well-informed post of Alzheimer’s disease and how the family is coping with it. Moreover, why does the children feel they have done enough, when the mom is still getting infections and falling? I believe they aren’t doing anything at all. For example, if the children would put the mom on a routine and make sure her medicines are in plain sight to take them. Additionally, not all the pills, but the dosage she needs to take while they’re away. Her falling may be a call for attention, which I believe she deserves. As a mom, I want my kids to be there for me when I’m old and dependent. I will definitely teach them to help the elderly as much as they can because one day you’ll get old and need help. At time, elderly don’t
Genetic disorders are abnormalities of the human body, caused by mutations in DNA. These mutations are random, unless caused by the environment. There are three categories of genetic disorders: single-gene disorders, chromosome abnormalities, and multifactorial disorders. As said by Richard Twyman, “Single-gene disorders are caused by defects in one particular gene, and often have simple and predictable inheritance patterns (http://genome.wellcome.ac.uk/, 2003). ”
Couch, D., Liamputtong, P., & Pitts, M. (2012). What are the real and perceived risks and