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Pedigree showing inheritance of cystic fibrosis
Pedigree showing inheritance of cystic fibrosis
Pedigree showing inheritance of cystic fibrosis
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It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
Congestive Cardiac Failure Keywords: Congenital, heart disease, cyanosis, oxygenated blood, deoxygenated blood, structural defects, systemic circulation, pulmonary circulation, Mottling, Pallor, Pulmonary Rales 1. CYANOTIC CONGENITAL HEART DISEASES (CCHD) CCHD is a group of congenital heart diseases that occur due to deoxygenated blood bypassing the lungs and entering the systemic circulation or a mixture of oxygenated and deoxygenated blood entering systemic circulation which is caused by structural defects of the heart or any condition which increases pulmonary vascular
Because they also encourage mucous secretions, macrophage activity on pneumococci is decreased while bacterial adhesion to the epithelium is increased. Pneumonia is a condition that aggravates the air sacs in one or both lungs. The air sacs may fill with fluid or pus causing cough with phlegm or pus, fever, chills, and difficulty breathing. Cyanosis occurs as a result of the decrease in gas exchange through the inflamed alveolar membrane and subsequent decline in hemoglobin saturation. One of the most common complications of the flu is a bacterial infection.
Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan.
Date: August 27, 2015 Isakson, Johnny (R-GA) 131 Russell Senate Office Building Washington DC 20510 (202) 224-3643 Dear Mr. Isakson: My name is Kinsie Carroll and I reside at 24 Duke Street Newnan, GA. I am a freshman at University of West Georgia.
Doctor, Clue me in! Cystic Fibrosis is a germline disease, in which the offspring inherits two CFTR mutations from its parents. This genetic disease affects the lungs and may result in death if left untreated, and those that live through it will undoubtedly suffer throughout their lives as mucus and bacteria will eventually fill their lungs if left untreated.
Pseudomonas aeruginosa and Chronic Lung Infection of Cystic Fibrosis Patients Valerie R. Vorndran Pueblo Community College Abstract Cystic Fibrosis is a genetically inherited autosomal disease that affects the ability to clear mucus from the airway. Mucus accumulation in the lungs and airway increases susceptibility to opportunistic pathogens such as, Pseudomonas aeruginosa. Airway bacterial infection and eventually chronic lung infection is the primary cause of death in people with CF. P. aeruginosa ability to mutate, transfer genes, produce alginate, and toxins all contribute to it virulence and ability to cause chronic lung infection in CF patients.
It has been established that the genetic and environmental background play a major role in the development of IPF. Understanding the pathogenesis through genetic linkage analysis can provide an insight into the principal driver of lung scarring and honeycombing, both characteristics of IPF. Consistent with what Kropski et.al, (2013) put forward, there are four genes that cause familial IPF, the inherited variant of IPF, and control the pulmonary linked “surfactant protein C (encoded by SFTPC)” and the “surfactant protein A2 (encoded by SFTPA2)”. The surfactant protein C is known to be hydrophobic in nature and is crucial for normal lung operation and eventually survival of the human being. According to Kropski et.al, (2013), these four genes
Cystic Fibrosis Cystic fibrosis (CF) is a life-threatening inherited disease that causes an extreme increase of abnormal thick secretions, destruction of the lungs and digestive system, and frequent respiratory infections. In this paper it will go in depth about how one obtains the disease, the statistic of CF, the sign and symptoms, the method of diagnosis, and the treatment with a special interest in lung transplants. This paper will glance into a interesting case study of a CF patient post lung transplant that obtained candida albican pancreatitis. CF is a very serious medical condition that has a variety of symptoms, diagnostic tools, and treatments. CF was discovered in 1938 and since then there has been a great amount of information observed
But what causes this disease? The production of the thick and sticky mucus occurs because of a mutations in a gene on chromosome 7. Cystic Fibrosis happens because of mutations in the gene that makes a protein called CFTR or “Cystic Fibrosis Transmembrane Regulator”. Cystic Fibrosis patients either produce uncommon CFTR protein or no CFTR protein at all. This mutation causes your body to make a thick and sticky mucus, instead of the thin and watery mucus that your body needs to function efficiently and healthy.
The medical model looks at a mental illness as a result of physical problems within the body such as genetic faults, a chemical imbalance, or abnormal brain structure. Which means it can be treated medically. For instance there is evidence from brain scans to show that people who live with anorexia have increased activity within the serotonin systems and higher levels of dopamine receptors within the brain (News.bbc.co.uk, 1999). The medical model is the most recognised, most supported and most used when it comes to mental illness.
Some people can have it severely from their birth, in others it may not be as sever and wait to show up till their teens or young adults. Cystic Fibrosis is a fatal genetic disease that effects the gene that makes a protein which controls the movement of salt and water in and out of your body's cells (https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis). That can cause mucus to build up and clog a few of the organs in the body. When the mucus gets stuck in the lungs it can make breathing very difficult. The mucus can also make it easy for "bacteria to get stuck in the airways" (https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700) .
Healthy tissue also is replaced by cysts, or small holes filled with fluids.” CF affects the transport of salt and water across cells. It not only affects the lungs, but it also affects the pancreas and some other organs. Some of its symptoms are salted tasting skin, constant coughing some times with phlegm, etc. Cystic Fibrosis is caused by a damaged gene that a child obtains from both of their parents.
Progeria affects a protein called Lamin A. Lamin A is encoded by the gene LMNA. LMNA is located on chromosome one. In Progeria, the nuclear envelope does not have the support to maintain its normal shape. Progeria gives all cells a risk at dying prematurely.
Therefore, because of the abnormalities that these conditions cause, it makes it
