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Clinical progression cystic fibrosis essay
Clinical progression cystic fibrosis essay
Research paper on cystic fibrosis
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It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
Inheritance by Dr. Sharon Moalem is an exceptional book. Dr. Moalem’s goal for writing this book is to convey a new idea of genetics and inheritance to the reader. In middle school and high school we were taught that our genetics comes from our parents and that they are fixed throughout our lifetime, but Dr. Sharon Moalem brings the idea that the environment may alter them. He states that the food we eat and the trauma we endure during life can imprint onto our genes. Dr. Moalem works with rare genetic disorders where he accumulates his knowledge from research to help treat his patients with changing some environmental factors in their lives.
Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan.
In Blindness, Jose Saramago uses both juxtaposition and imagery to represent the concept of “being evil for the greater good”; moreover, Saramago’s purpose is to convey how one’s morality and decisions are influenced by other factors such as a dictatorship. To begin with, there was a blindness that started spreading from person to person. First, it was the blind man, then the thief, the doctor, the girl with glasses, the boy with the squint, the doctor’s wife, and the man with the eyepatch. It’s important to note that the doctor’s wife isn’t actually blind. She lied to the ministry to be able to stay close to her husband and to be able to take care of those around her.
Pompe disease is an inheritable problem caused by the buildup in the cells of the simple sugar, Glycogen. While the underlying problem is the lack of a specific enzyme called acid alpha-glucosidase. When the cells start to have this build up, the organs that they make up start to not function properly. There is known to be three types of this disease that show how severe they are. This is best known through the age in which it first stands out in a person, the younger they are the more severe it will most likely be.
Cystic fibrosis (CF), is a disease that is inherited, or passed down through genes from parents to offspring. This disease affects the secretory glands, including the glands that produce mucus and sweat. CF develops when a person inherits two faulty CF genes, one from each parent. Parents, more than likely, don 't have the disease. CF affects many body organs, but mostly the lungs, pancreas, liver, intestines, sinuses, and sex organs (What Is Cystic Fibrosis?, 2013).
Ranging from physical diseases such as cancer to mental disorders such as
Jasmine Nguyen 37852068 Child Health Psychology May 23, 2016 Cystic Fibrosis Cystic Fibrosis is a genetic disease of the secretory glands that affects the person’s ability to breathe over time as well as causing persistent lung infections. The source of cystic fibrosis is a defective gene that affects the secretory glands and causes them to create mucus that is thick and sticky which eventually builds up in organs such as the lungs, pancreas, liver, sinuses, sex organs, and intestines. When mucus enters the lungs of those with cystic fibrosis, the mucus clogs the airways of the lung and leads to bacteria getting trapped which eventually results in the person getting infections of the lung, extensive lung damage, and respiratory failure. Mucus
Influenza A virus is one of the most life threatening viral infection that cause respiratory illness. This virus usually affecting the nose, throat, airways and lungs. It is so contagious that it is easily spread by having contact with the saliva through coughing and sneezing. Influenza A virus can cause mild to severe illness such as fever, headache, sore, sneezing and nausea which accompanied with loss appetite, decreased activity and food intake. Apart of that, this infection is able to cause bronchitis and pneumonia.
Cystic Fibrosis (CF) is a debilitating genetic disease which is caused by a faulty gene. It affects around 70,000 people around the world. This disease can affect any ethnic group or race, however is most common in Caucasian people (Giddings, 2009). This essay will focus on the symptoms, diagnosis, treatment and the socio-economical importance regarding CF. CF is caused by a fault within the CFTR gene.
Cystic Fibrosis is a hereditary condition, and for a child to get the disease, they have to get one copy of the defective gene from their mother and their
This phenomenon is referred to as pleiotropy, which explains why these disorders have yet to be cured, because the more genes involved, the harder it is to identify them all and create a solution that fixes each of them (MacDermot et al., 2005,
Autism There are many common diseases that modify the functions of the human body. Neurological diseases, for example, could affect anyone at any time. The worst kinds of neurological diseases are those which can affect the functions of the human brain. A well-known example is autism, and it has become a widespread disease among children. According to the Centers for Disease Control and Prevention (CDC), 1 of every 68 children in the U.S would have autism spectrum disorder; moreover, the study shows that 1 in 42 boys and 1 in 189 girls would have autism spectrum disorder (1).
A person does inherit a tendency to develop the disease. It may appear when the body goes through hormonal and physical changes or after dealing with highly stressful situations (MHA,
Is your family tree carrying a genetic disorder? A genetic disorder is a genetic problem caused by one or more abnormalities in the genome. A genetic disorder is also a inherited disorder. The science of genetics was born with the experiments of Gregor Mendel, a nineteenth century austrian monk who studied inheritance patterns. The most common genetic disorder is Cystic Fibrosis, which results in a lack of a certain protein is present and the balance of chloride in the body isn’t restricted.
