Cystic fibrosis (CF) is an inherited disease that the affects the exocrine glands. CF is located on chromosome 7 and is made up of 250,000 DNA nucleotides. This produces a large amount of sticky mucus which blocks the pathway of the Pancreatic ducts, Bronchi, Lungs, Digestion system and the Theintestines. CF controls the movement of chloride ions in and out of cells. This is important for the salt and water balance on epithelial surfaces, such as the lungs or the pancreas. The bacteria created by the mucus causes the damage to the affected areas. This will often result in respiratory system to be infected. This leads to irreversible damage to the body.
5000 years ago CF appeared in the human genome and has mutated into 1600 forms since then.
Delta F508, is the most common type of CF worldwide, it is present in 72% of cases. In Australia 2,500 babies are born with CF. This disease although not uncommon, “1 in every 25 people on average” carry the disease, most don’t even know they are carrying the disease. There is a 25 % chance your child could get CF, 50% chance they could be the carrier and 25% chance they are not effect by the disease. The CF carriers don’t display any symptoms of the disease. Anyone could be the carrier and you wouldn’t know. There is about 1 million unaware carriers. People with CF are not encouraged to socialise because it risks the chance of a cross- infection and the chance of exacerbation of the lung condition is far too great. People who have CF display symptoms of; 1. Frequent lung infections or pneumonia 2. Continual wheezing 3. Persistent cough with thick mucus 4. Bulky, light-coloured, foul-smelling bowel movements or diarrhoea (food isn't being digested properly) 5. Failure to gain weight (even when child eats normal quantity) 6. Very salty sweat 7. Poor height growth 8. Nasal polyps (small growths of tissue inside the nose) 9. Frequent sinus infections 10. Fatigue Even though there is no cure for Cystic Fibrosis there is treatment. The treatment consist of; 1. Intensive daily physiotherapy to clear the lungs 2. Enzyme replacement capsule with food to aid digestion 3. Antibiotic therapy to treat lung infections 4. Aerosol mist inhalations via a nebuliser to help open the airways 5. Salt and vitamin supplements 6. A nitrous, high calorie, high salt, high fat diet 7. Exercise ( the easiest way to clear the airways and build core strength)
Membranes are involved in Cystic Fibrosis when it comes to the genes that are prone to the disease. In a regular functioning body, the CFTR gene helps make the channel that transports charged chloride ions into and out of cell membranes. In a body with cystic fibrosis, the chloride channels don’t function properly, and do not allow chloride ions into and out of the cell membranes, causing the thick mucus (as mentioned earlier) to be produced. The concentration gradients are involved when it comes to moving these molecules and ions across the cell membranes with passive and active transport. Passive transport substances move down concentration gradients while active transport substances move against their concentration gradients (keep in mind this is in a healthy functioning body). With cystic fibrosis, there is a defect in the transport protein, which does not move through the concentration gradient
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
Being diagnosed with a chronic illness is a life-altering event. During this time, life is not only difficult for the patient, but also for their loved ones. Families must learn to cope together and to work out the best options for the patient and the rest of the family. Although it may not be fair at times, things may need to be centered on or around the patient no matter what the circumstance. (Abbott, 2003) Sacrifices may have to be made during difficult times. Many factors are involved when dealing with chronic illnesses. Coping with chronic illnesses alter many different emotions for the patients and the loved ones. Many changes occur that are very different and difficult to get used to. (Abbott, 2003) It is not easy for someone to sympathize with you when they haven’t been in the situation themselves. No matter how many books they read or people they talk to, they cannot come close to understanding.
The gene that is linked to the disease was first identified by Francesco Ramirez in 1991.
Cystic Fibrosis (CF) is a very common, potentially life threatening condition. The disease is caused by inheritance, and affects the exocrine glands of the patient. Cystic fibrosis is found primarily among Caucasians and those of European descent. Those diagnosed with Cystic Fibrosis battle daily to perform simple tasks, such as breathing, as the mucus in their bodies thickens immensely. This mucus will potentially accumulate in the patient’s vital organs, such as the lungs, pancreas, and intestines. One can determine if he/she has cystic fibrosis by analyzing certain symptoms. Cystic Fibrosis can be diagnosed according to the symptoms the patient shows, and can be treated through specific types of treatments, such as gene therapy.
Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading to breathing problems and bacterial infections in the lungs. Bacterial infections can lead to coughing, wheezing and inflammation. Overtime these infections can lead to permanent damage in the lungs including the formation of scar tissue, known as fibrosis and cysts in the lungs (Genetics Home Reference, 2013). The symptoms and signs of this disease vary but mostly include progressive damage to the respiratory system and chronic digestive system problems. An individuals’ lungs who are infected by cystic fibrosis have bacteria from an early stage. This bacteria can spread to the small airways, leading to the formation of bacterial micro-environments known as biofilms. Biofilms are difficult for antibodies to penetrate, therefore the bacteria repeatedly damage the lung and gradually remodel the airways, resulting in difficultly to eradicate the infection (Welsh, 1995). Cystic fibrosis patients may even have their airways chronically colonized be filamentous fungi and/or yeasts. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm are blocked by mucous and do not develop properly. As well, women may experience complications in pregnancy. Either the c...
A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has reached this organ, it halts digestive enzymes from reaching the intestines which aid in absorbing food, therefore affecting nearby organs (Davies, Alton, and Bush, 2007). Currently there are 9,000 people diagnosed with CF in England (CF Trust, 2011). It has been estimated that there is 1 in 10,000 South Asian sufferers in the UK alone (Kabra, Kabra, Lodha, Ghosh, Kapil et al, 2003; McCormick, Green, Mehta, 2002). Prior research-based literature that focuses on people with CF and their families covers some of the experience of living with the disease but displays some major gaps; none has specifically targeted South Asian individuals. Cross culturally this is also the case; the limited availability of CF research has influenced scientists to devote more attention in this area. For instance, information in regards to CF in Egypt is very limited; firstly CF has been believed to occur infrequently as there has not been a sufficient amount of known CF cases. Naguib, Schrijver, Gardner, Pique, Doss, Ze...
Cystic Fibrosis is a chronic non-gender biased illness which affects the digestive system and the lungs. This condition also results in the buildup of mucus, which clogs in the respiratory system as well as the pancreas. Cystic Fibrosis occurs because a defective gene causes the body to excrete excessive sticky and thick mucus that clogs the lungs leading to a life-limiting lung infections. When these thick secretions obstruct the pancreas, they prevent the digestive enzymes from reaching the intestines to aid in breaking down as well as absorbing food. However, if Cystic Fibrosis are not treated, it can be fatal as there is no cure. Research shows that each day one person dies from Cystic Fibrosis. As such, this is the most deadly condition
Cystic Fibrosis is an autosomal recessive genetic disease affecting the exocrine glands and progressively gets worse over time. The production of unusually thick mucus is formed causing blockages of the pancreatic ducts, intestines, and bronchi. Though it majorly affects the respiratory and digestive systems, sweat glands and the reproductive system are affected too. “The result is malnutrition, poor growth, numerous respiratory infections and breathing difficulties” (Interactive Health Tutorials: Medline Plus). Cystic Fibrosis affects almost 30,000 Americans: it affects males and females equally.
While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a pathologist, Dr Dorothy Andersen, provided the first clear description of cystic fibrosis. Before this time there had been reports of people that had the symptoms of someone with CF. During the seventeenth century children with the symptoms of CF were thought to be bewitched and their life expectancy was very short. Dr Dorothy Andersen gave this disease its name because cystic fibrosis refers to the scarring that is found on the pancreas. People with CF also have associated diseases like salt-loss syndrome, obstructive azoospermia, and gastrointestinal abnormalities. CF is inherited from one’s parents, making it a genetic disease. CF is caused by mutations in a certain gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This gene was first discovered in 1989 on chromosome pair 7. Cystic fibrosis is a recessive disease meaning both parents have to be a carrier. Whenever two CF carriers have a child together, there’s a 1 in 4 chance that their child will inherit the CF mutation. Although CF produces coughing it cannot be transmitted any other way than hereditary.
In cystic fibrosis, a genetical condition that has a high population of young patients with multiple medical treatment requirements, it is of clinical importance to ensure compliance to their treatments in order to avoid a premature death. Behavioural economics can help here by addressing how we improve motivation with and perceived value of medical treatments – to improve overall patient compliance. In treatment compliance with children, up to 70% of patients with chronic illnesses have poor adherence (Haynes RB, 2002). Poor adherence to cystic fibrosis therapies may result in increased disease symptoms, decrease physical functioning, increased time in hospital, morbidity rates and mortality, as such an increased healthcare costs (Vibeke Bregnballe, 2011). Therefore the more compliant the more cost-effective treatments become, and the healthier the patients stays. It is also important to note that for every drug skipped represents a financial loss. Capgemini group reported in 2013 that the worldwide cost of non-adherence to be estimated at 564 billion dollars. So, if we get childre...
Despite advances in technology and modern medicine, CF remains incurable while; it still being ranked as Australia’s most common serious genetic condition in Australian children today, with it affecting one in every 2,500 babies. (myDr, 2001-2014)
In Gacriel Moreno-Garcia’s "Mexican Gothic", Noem's growing understanding of herself and the constant sexism she encounters is revealed. One key moment of her experience of sexism is when Howard Doyle condescends Noem during many of their interactions. Despite her wit, Noem often finds herself and her ideas dismissed and undermined by Howard solely due to her gender identity. Noem’s experiences with Howard Doyle challenge her perception of herself and her place in the world, which forces her to confront the limitations and prejudices placed upon her as a woman in society. In the book, it reflects on how women need to act in such a specific way just to be respected.
Cystic fibrosis (CF) is a disease that is caused by a defective gene that is inherited from both parents. The defective gene causes a person’s body to release thick sticky mucus which subsequently causes the patient’s airways to be blocked. Cystic fibrosis is a chronic respiratory disease with typical symptoms being digestion, wheezing, lung infection, stuffy nose, and a persistent cough.