Abstract Cystic fibrosis is a life-threatening, genetic disease that causes persistent lung infections, and complicates a person’s ability to breathe. People with Cystic fibrosis have troubles to breathe because a broken gene causes a thick, growth of mucus in the lungs, pancreas and other organs. The mucus blocks the air passage to the lungs, and traps bacteria leading to infections, considerable lung harm, and sooner or later, respiratory failure. In the pancreas, this mucus blocks the deliverance of digestive enzymes that allow the body to break down food and absorb vital nutrients. People with this disease used to have a life expectancy of 6 months back in 1938, but now with the advances of technology and medical treatments, life expectancy is approximately 35
CF affects many body organs, but mostly the lungs, pancreas, liver, intestines, sinuses, and sex organs (What Is Cystic Fibrosis?, 2013). CF is an autosomal recessive trait and the gene mutation is located on chromosome #7. There are several different mutations of this gene that could result in cystic fibrosis. The most common mutation is the absence of three base pairs in the DNA sequence, which is 250,000 nucleotides
During CVS a fine needle is passed through the mothers stomach or through the cervix in order to retrieve a piece of the placenta. This is then tested in the laboratory to check for the abnormal gene. ( '277 Cystic Fibrosis in adults ', 2005) Finally the most commonly used diagnostic technique is the sweat test. The sweat test consists of a very weak electrical current being applied to the skin and a sample of the sweat produced is taken which is tested for the amount of salt with in this fluid. This is done because people with CF have abnormally high amounts of salt in their bodies hence when kissed they can taste salty.
Sickle cell has a lot of different complications. These make the disease itself harder. All the complications and symptoms just depends on the person and how their body chooses to react. Hand-Foot Syndrome is one complication that occurs with sickle cell. Due to the sickling of the cells blood vessels may be blocked which causes the hands and/or feet to painfully swell.
One might experience respiratory signs and symptoms caused by the blocking of air passages and lungs with thick mucus such as repeated lung infections (pneumonia or bronchitis), wheezing or shortness of breath. One might also experience digestive signs and symptoms such as those mentioned in the CRTF.INFO.’s website informational article, gastrointestinal tract problems such as congenital Meconium ileus and distal intestinal obstruction syndrome, are caused by the decrease in chlorine and water secretion into the gut. These problems can play a factor in Cystic Fibrosis patient inability to absorb the vital nutrients they need. Also included is the buildup of digestive enzymes and digestion of its own tissues in the pancreas created by the thickening of exocrine secretions that block the pancreatic ducts intestinal blockage which results in bowel movement problems like diarrhea, gas, and abdominal pain. Not only can Cystic Fibrosis affect the pancreas and gastrointestinal tract but also the liver’s secretions.
(Genetics Home Reference, 2012). Signs and symptoms of haemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding. Haemophilia is very hard to identify if someone is a carrier, the genetic disease will remain dormant until it is passed onto the offspring.
“1 in 17,000 boys have ALD and two of them are mine,” states Janelle Syverson. Adrenoleukodystrophy is a disease that is inherited from the mother to her son through the X chromosome. The disease has affected both of Janelle’s sons and unfortunately one of her sons, PJ, died this past February from this horrible disease. ALD does not allow the breakdown of certain fats from a long chain of fatty acids, which in turn affect the myelin and can cause the myelin to deteriorate. In return this affects the males cognitive behavior and will cause the child to go into a vegetative state within two to five years after diagnosis.
NO TITLE YET Kimberly Kalani Excelsior College Abstract Will be writing at the end of my paper after the final draft is completed! Keywords: Cystic Fibrosis, Gene mutation, protein abnormality, functional abnormality. TITLE NOT DECIDED YET Cystic Fibrosis or CF, is a life long condition caused by a progressive genetic disease. This disease causes the mucus producing glands of the body such as the intestinal and sweat glands to function incorrectly. Due to the malfunction in the glands that produce mucus, the lungs tend to accumulate thick mucus that eventually leads to infection, difficulty breathing and in severe cases a lung transplant or respiratory failure.
Sixty-five roses is the term given the disease cystic fibrosis by young children affected by it (cite me). Every year, in the United States, 30,000 people are newly diagnosed, these cases are typically infants as those with CF are usually diagnosed by the age of two with a sweat test (cite me). Cystic Fibrosis (CF) is the most common life-limiting, an autosomal recessive disorder affecting primarily Caucasians (cite me). By understanding this disorder, the repercussions of the disorder on the development of throughout a patient’s lifespan can be understood. CF is multisystemic, but primarily affects the lungs, pancreas, liver, intestines, sinuses, and sex organs (cite me).
Anabolic-androgenic steroids can cause a condition called proteinuria, in which abnormally high levels of protein are excreted in the urine. Proteinuria is directly related to a decrease in kidney function (Schieszer, 2010). In addition to these side effects, anabolic-androgenic steroids may hindering the immune system, putting abusers at risk for infections. Injection of anabolic-androgen steroids also put people at risk of contracting hepatitis and HIV (Kersey et al.,
Neimann Pick Disease Type C1 What is Neimann Pick Disease Type C1 and how is it Diagnosed? Neimann Pick Disease Type C1(NPC1) is a rare lipid shortage disorder that can be diagnosed at any point in the individual’s life time(2). It can be passed on recessively from the parent to their offspring. For further evaluation genetic tests can be done on a patient to seek the NPC1 gene that causes the mutation resulting in the lack of cholesterols levels(2). Some of the tests that can be performed are liver and spleen biopsies and cholesterol assay (3).
C.) The nurse would monitor for therapeutic effect of cyclophosphamide(Cytoxan) by continuing monitoring the blood pressure, respiratory rate, and temperature, ensuring they are within the range that the doctor set. You would also need to monitor complete blood count (CBC) and should be maintained at 2500– 4000/mm^3. Urinary output is important aspect when making sure the drug is in therapeutic range. You would want to monitor the urinary output to make sure it is in the range of 3000 ml/day so they are not developing the risk of hemorrhagic cystitis. Make sure to assess the cardiac and respiratory status for dyspnea, crackles, cough, weight gain, and edema.
His paternal grandfather died of leukemia, but prior to that had won battles against lung cancer and colon cancer, maternal grandmother died of a brain tumor, paternal grandfather died of a heart attack, and both parents have been diagnosed with type 2 diabetes. The client tries to work out 4 times a week on average. He does split weight training, high intensity interval training, and cardio for his physical activity. The clients reports having noticed a weight gain of about 6-8 lbs per year over the past 5 years. He claims that he has tried several times in the past to lose excess weight, but there is little to no progress.
Polycystic kidney disease (PKD) is a genetic disorder categorized by the growth of numerous cysts in the kidneys. Said cysts are filled with fluid and slowly replace most of the mass of the kidneys. This inevitably reduces kidney function and eventually leads to kidney failure. When PKD causes the kidneys to fail, which typically happens after many years, the patient requires dialysis or a kidney transplant. Approximately one-half of the people with the major form of PKD advance to kidney failure, also known as end-stage renal disease.