Idiopathic pulmonary fibrosis

Cystic Fibrosis is the most common fatal autosomal genetically inherited disease with high morbidity within the Caucasian population. This disease is due to the defective or non-existent CFTR (Cystic Fibrosis Transmembrane conductance Regulator) proteins. The lack of the CFTR proteins results in the buildup of a thick, sticky mucus within the lungs, which in turn makes it harder for the patient to breath. The patient experiences altered epithelial ion transport. This altered epithelial ion…

Cystic fibrosis is the most common, life threatening autosomal recessive disease within the Caucasian population. It is an inherited disease caused by the mutation of a single gene on chromosome 7. Both males and females can be affected by this disease, however, it is not contagious. Around 70% of individuals with cystic fibrosis inherited the disease from not only one, but both their parents. There is over one thousand different mutations of the cystic fibrosis gene, which means that there may…

Cystic fibrosis (CF) is a life-limiting genetic disorder affecting 70,000 individuals worldwide (about 30,000 in the US). Recent advances in new drug development – approval of Kalydeco and Orkambi - represent a success for the CF community. However, these compounds are not sufficient to cure CF because (a) they show modest improvement in lung function, a key measure for cystic fibrosis patients; (b) efficacy decreases with long term use; and (c) additional drugs are required in patients with…

a) Cystic fibrosis affects ion transport in what type of cells? (1 mark) Cystic fibrosis affects ion transport in epithelial cells b) The CFTR protein regulates the transport of a number of ions; name 2 of these ions. (2 marks) The CFTR protein regulates the transport of Cl- and Na+ c) Explain why a defective CFTR gene could cause Dan to produce very salty sweat. (5 marks) The normal function of the CFTR gene provides instructions for making a protein channel called the cystic fibrosis…

Cystic fibrosis is a genetic disorder that if left untreated can shorten periods of life, weaken the quality of life, and can even be fatal. This disease causes continual lung infections and over time, can make it substantially harder to breathe. CF means that there was a defective gene given from your mother and your father, “this leads to build up mucus in the lungs, pancreas and other organs. In the lungs the mucus clogs the airways and traps bacteria leading to infection, extensive lung…

A total of seven people reside in the household. I am one of the five children in the home. I was diagnosed with a genetic life-threatening disease called, Cystic Fibrosis (CF) and many other problems such as bronchiectasis, atelectasis pulmonary, chronic sinusitis, pancreatic insufficiency, GERD, hiatal hernia, vitamin E deficiency, and many more. CF is a genetic disease that affects the exocrine glands. Consequently, this disease causes an imbalance at the cellular level between sodium and…

What comes to mind when you think of skin disorders? What about cysts? The idea of skin disorders can make people cringe, because the first thing thought about them is abnormality. Though they are considered “abnormalities”, the majority of “normal” day to day people have them. So what's the big deal about someone having a noncontagious skin disorder like a cyst? A cyst is a membranous sac or cavity of abnormal character containing fluid. They can be filled with semisolid material, gaseous…

Discussion The proper diagnosis of chronic fatigue syndrome (CFS), or myalgia encephalomyelitis, requires familiarity with the early sings and symptoms of this disease. According to the International Association for Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (n.d.), the diagnosis of CFS involves several critical elements about the patient’s history, patient’s symptoms patterns, and a complete exclusion of other illness causing fatigue. The National Institute of Neurological Disorders…

Cystic fibrosis (CF) is the genetic disease that affects mostly European. It is one most common autosomal recessive disease in the 1950s. CF is the result of sticky build mucus in the respiratory and digestive system. In the digestive and respiratory system, excessive mucus secretion gets in the way of digestive enzyme and cell membrane of the lung which led to the blockage of absorption of nutrient and exchange of Co2. The symptom of CF is salty-tasting skin, Coughing, Wheezing and bulky…

1) A.) The specific DNA changes caused by the delta F508 mutation, include a production of the abnormal cystic fibrosis protein. This mutation can only be inherited if both genes in pair of DNA carry the cystic fibrosis mutation. The specific mutation functions as a chloride channel, that has an abnormal amount of salt and water balance. Normally a chloride channel would help to maintain the right balance salt and water inside a cell, but those mutated with F508 mutation, are imbalanced causing…