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Cystic fibrosis doctors report
Cystic fibrosis
Cystic fibrosis doctors report
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Desiree Smith 30104997 Cystic Fibrosis 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... ... middle of paper ... ...nted as 7q31.2 (Welsh, 1995). Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female. REFERNCES Genetics Home Reference, (2013) Cystic Fibrosis. Retrieved from ghr.nlm.nih.gov/condition/cystic-fibrosis Human Genome Project Information, (2003) CFTR: The Gene Associated with Cystic Fibrosis. Retrieved from www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml Welsh, M.J., Smith, A.E., (1995) Cystic Fibrosis. Retrieved from www.msu.edu/~luckie/cfarticle.html
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.
Over 200,000 Americans suffer from Crohn’s, according to Dr. Richard Curtis, chief of gastroenterology at Newton-Wellesley Hospital. Though the disease does not target a specific age group, certain risk factors do exist. People who have a genetic predisposition to it are more likely to develop Crohn’s, said Dr. Curtis. For example, people who have a close relative with Crohn’s have a 20 percent chance of being diagnosed with it themselves. Crohn’s is more common in Jews than in non-Jews; it is most common in Ashkenazic Jews than any other group.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
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.
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
In the Shadow of Illness, the book describes different experiences of families who have or had children with cystic fibrosis (CF). CF is an inherited disease that is passed on from the mother or father who is a carrier, but doesn’t have the condition. Doctors have figured that in this scenario, the parents are likely to have a child with CF. Individuals with CF have to take Cotazymes to help the pancreas digest food. If the person does not take these enzymes, the food goes straight through them as diarrhea. Also, the person’s lungs are affected by a thick mucus that must be removed or thinned before it clogs. Doctors recommend the patient to perform daily breathing exercises that prevent the mucus from thickening; for example, swimming
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
The breast is a muscle connected to the chest wall made up of fatty tissues containing milk-forming glands that drain into the breast ducts during breast-feeding, and then leave the ducts through the nipple (Newson et al). These glands can decrease or increase in number and size. Breast lumps or cysts can form in various tissues or components that make up the breast. The English diction cyst comes from the Ancient Greek word kystis, meaning “bladder” or “pouch”. A cyst is an organ or cavity containing a liquid, semisolid or gaseous secretion. Cysts appear within tissue and can affect any part of the human body. They range in size from minuscule to the mass of team-sport balls such as tennis or baseballs. Cysts are also referred to as any normal bag or sac in the body, such as the bladder.
Many people have never heard of Adrenoleukodystrophy it is a disease that affects every 1 in 20,000 people from all races (Moser, AB HW, and KK Frayer). It is a disease that if not treated properly can possibly kill the child due to difficulties. Adrenoleukodystrophy is passes down from parents to their children as an X-linked trait. Since ALD is X-linked trait it mostly affects male, women can also carry the trait but it will remain dormant. If a woman has ALD she will only display a milder form of the disease unlike the male.
Chronic bronchitis is a disorder that causes inflammation to the airway, mainly the bronchial tubules. It produces a chronic cough that lasts three consecutive months for more than two successive years (Vijayan,2013). Chronic Bronchitis is a member of the COPD family and is prominently seen in cigarette smokers. Other factors such as air pollutants, Asbestos, and working in coal mines contributes to inflammation. Once the irritant comes in contact with the mucosa of the bronchi it alters the composition causing hyperplasia of the glands and producing excessive sputum (Viayan,2013). Goblet cells also enlarge to contribute to the excessive secretion of sputum. This effects the cilia that carry out the mechanism of trapping foreign bodies to allow it to be expelled in the sputum, which are now damaged by the irritant making it impossible for the person to clear their airway. Since the mechanism of airway clearance is ineffective, the secretion builds up a thickened wall of the bronchioles causing constriction and increasing the work of breathing. The excessive build up of mucous could set up pneumonia. The alveoli are also damaged enabling the macrophages to eliminate bacteria putting the patient at risk for acquiring an infection.
Cystitis is the medical term for inflammation of the urinary bladder. Most of the time, the inflammation is caused by a bacterial infection, and it’s called a urinary tract infection. A bladder infection can be painful and annoying, and it can become a serious health problem if the infection spreads to your kidney.
Cystic Fibrosis is one of the most common genetically inherited diseases affecting white men and women. Cystic fibrosis is a genetic disorder where abnormal amounts of mucus build up in many of the body’s organs especially the lungs and the pancreas. This build up of mucus in the lungs can lead to many persistent infections that can lead to damage and scarring over time. In addition, when this mucus collects in the gastrointestinal tract and around the pancreas it prevents digestive juices from aiding in the digestion process. In addition, this mucus buildup also prevents the production of insulin, a crucial hormone that is made in the pancreas and is necessary to control blood sugar levels (Cystic).
About 1,000 new cases of cystic fibrosis are diagnosed each year and over 70,000 people are already diagnosed worldwide. Cystic Fibrosis is a genetic disorder that affects the lungs’ ability to secrete mucus properly. It’s gene and protein product cause the body to produce unusually thick and sticky mucus (CFF). Mucus is designed to lubricate the lungs, but the lungs of a patient with cystic fibrosis are prone to infection because of the thick mucus that traps bacteria and foreign materials. Instead of being expelled, the materials stay in the lungs and cause infections. The white blood cells die and create an even thicker substance. The mucus in the sinus cavities can also create upper respiratory infections and a nasally