(2 marks) The main diagnostic test for cystic fibrosis is the sweat test that tests the amount of Cl- levels. This is collected on a pad or paper and then analysed. Dan did not share his sweat test results, as he was unsure of them although he did mention that his sweat was very salty and he sweated more than normal when…
Introduction The genetic autosomal recessive disorder known as Cystic Fibrosis (CF) effects on average 1 of 28 Caucasians. The average age for patients to be diagnosed with this genetic disorder is around 2 weeks and 2 years old, there are some cases where they are find out sooner and others when they are adults. CF affect the patient’s chloride channels which causes the mucus in their lungs to thicken and pool. It can also affect the pancreas by blocking it up and not allowing it to produce digestive enzymes.…
Website: http://www.wsvn.com/story/26299941/camps-take-cystic-fibrosis-patients-surfing Cystic fibrosis (CF) is a genetic-disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and continues throughout other areas of the body. Cystic fibrosis has signs and symptoms that differs, depending on how bad the disease affects someone. Cystic fibrosis varies through ages, it affects infants, teenagers, and young adults, but is mostly found in white people.…
The structure of an enzyme is important because if the structure of the protein is denatured, the protein can not function properly either. Being denatured can be caused by many things but changing the pH or temperature are the main ways to make a protein not to function properly. Any little change in the sequence from protein folding can cause dramatic consequences that might lead to disease or sickness. Cystic Fibrosis is a common disease that affects the whole body, the main and most serious symptom is difficulty with breathing caused by frequent lung infections, Cystic Fibrosis is caused by the dysfunctional gene of the protein CFTR, cystic fibrosis transmembrane conductance regulator.…
Cystic Fibrosis Part 1 Jenna Saline Kaplan University Cystic Fibrosis is a genetic condition that has an affect on many organs of the patient. This disease will ultimately lead to fatal impairment of the lungs. It is most common to see Cystic Fibrosis diagnosed from early childhood to young teens. Cystic Fibrosis is an autosomal recessive disorder in which both gene alleles must be mutated for the disease to be expressed (Ignatavicius and Workman, 2013). As every person is unique, the severity of the effects from CF will vary from person to person.…
Since the discovery of the gene, doctors have been trying to to create effective therapies to treat Cystic Fibrosis. One of the doctors who works at the Sick Kids Hospital in Toronto, and studies the cystic fibrosis gene said, “Finding the gene opened the door to unprecedented knowledge of the disease. After its discovery we were able to study and understand how the protein made by the CFTR gene worked and what happened when it didn’t, Once we figured this out, therapy that targeted defects caused by CF gene mutations could begin” (Doctor Christine Bear). The discovery of the Cystic Fibrosis gene has helped the doctors learn much more about the disease and hopefully will help them find a cure to Cystic Fibrosis in the…
One from their mom and one from their dad. Cystic fibrosis is diagnosed using a series of tests. The sweat test measures the amount of salt in ones body (patient). The genetic tests uses their blood to detect the gene (patient). The screening test is a blood test for babies that are suspected to have the disorder (patient).…
ΔF508 mutation is the most common among CFTR gene mutations. The CFTR gene is responsible for creating a channel that transports chloride ions into and out of cells. Sodium and chloride (the components of salt) aid transport water (sweat) to skin surface through ducts and then reabsorbed into the body. In patients with cystic fibrosis, the salt reabsorption process is abnormal because CFTR, which is the main transportation of chloride is defective. Abnormal reabsorption of chloride by the sweat glands of cystic fibrosis patient can cause excessive salt content in their sweat.…
Some of the symptoms include salty-skin, heavy coughing, shortness of breath and frequent lung infections such as bronchitis and pneumonia. As well as this , there may be bowel problems and may be a lack of growth or weight gain in those who have CF. Also, some of those who are diagnosed with Cystic Fibrosis may have infertility and will not be able to produce children. People have different ways of coping with Cystic Fibrosis.…
Cystic Fibrosis are known to be a recessive disorder, meaning that both parents must a carrier of the gene in order to pass on the defective gene to any of their children in order to get the disease. If the faulty gene is inherited by one of the children, he or she will also be a carrier of the gene. Being a carrier of the disease will not affect the carrier, but the gene can be passed down to their children. This essay will address the biological basis and symptoms of Cystic Fibrosis, the treatments and/or management of this disease, and the issues, controversies regarding genetic screening. (University of Utah | Health Sciences, 2015) 1.…
When an infant has Cystic Fibrosis, the disease will be caught early in his or her life; however, the symptoms of CF may not manifest until the later teen years. There are several different warning signs that go off when one has cystic fibrosis. Some sign that CF may be developing in a young child are: constant diarrhea, greasy stools that are foul smelling; also children’s bodies may grow poorly, they have severe cough with thick mucus and frequent wheezing (Patient Education Institute). When parents kiss his or her children, normally the parents cannot taste sweat. However, children with Cystic Fibrosis normally have salty skin, which parents will notice with his or her…
Chronic obstructive pulmonary disease is a lung disease that causes inflammation and stops the airflow from the lungs. Symptoms such as cough, sputum and wheezing are related to this condition. The main cause of the disease is cigarette smoke and exposure to irritating gases for a long time. People with COPD are at a much higher risk of developing heart diseases and other conditions. Contributing conditions to COPD are emphysema and chronic bronchitis.…
A person may carry the CF gene but not develop the condition, this is because the gene must be present in both parents for the child to develop CF. When both parents carry the CF gene there is a 25% chance of the child developing CF. There is also a 50% chance of the child carrying the gene (Cystic Fibrosis Trust UK, 2014). Although everyone who has CF is born with it, they may not be diagnosed until later in life. Since 2011 in the Republic of Ireland, CF has been included in the new-born blood spot screen test, which is more commonly known as the heel prick test (Cystic Fibrosis Ireland, 2014).…
Cystitis is the inflammation of the bladder; generally the inflammation is caused by a bacterial infection known as a urinary tract infection or a UTI. A bladder infection can cause many problems and can eventually spread to the kidneys causing severe pain depending on the severity of the bacterial infection. The most common bacteria that is responsible for cystitis is, Escherichia coli (E. coli). Pyelonephritis is an example, cystitis and pyelonephritis share many similarities the difference between the two is where the infection is located. A lower urinary tract infection is cystitis and a few days of antibiotics will take care of the infection.…
Therefore, it is reasonable to suspect that a positive result may be inaccurate. In the wake of “false positive” test result, a more confirmative testing should be used to further provide validity to any positive result. The accuracy of each test can be challenge and should be, specifically presumptive testing which most often produces ‘false positive at a high rate. Specimens of oral (saliva), urinalysis, hair, finger or toe nails and even sweat have been used and all have produced false positive…