...Cystic fibrosis, also known as mucoviscidosis, is an autosomal recessive disorder.1,2,22 It is the most common inherited disease in the Caucasian population affecting 1 in 3000 children in Western Europe.3 It is a multiorgan disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is located on the long arm of chromosome 7 and encodes for a special chloride ion channel.4,5 The vast majority of mutations involve three or fewer nucleotides and result in primarily amino acid substitutions, frameshifts, splice site, or nonsense mutations.11 Of more than 800 identified CFTR mutations, the 3 base pair deletion of phenylalanine at position 508 is found worldwide in 70% of cystic fibrosis sufferers, therefore making F508 CFTR the most common deadly mutant in the Caucasian populations.6 Since cystic fibrosis has a genetic origin the opportunity to treat by replacing the defective gene with a normal healthy gene (gene therapy) offers a ‘novel therapeutic approach’ for sufferers.7 The estimated survival age of cystic fibrosis sufferers is 33.4 years (Fig 1). In this essay we will discuss the aetiology and symptoms of cystic fibrosis and the current available treatments, with particular emphasis on gene therapy and furanones, which prevent the build up of bacterial biofilms and thus reduce lung infection. Mutations in the CF gene can disrupt CFTR function within epithelial cells in different ways, ranging from complete loss...
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...“Cystic Fibrosis” Pediatric Case Study March 27, 2013 Kasie Wilson The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Cystic fibrosis (CF) is a major cause of serious chronic lung disease in children. It is an inherited recessive trait, in which both parents carry a gene for the disease. Children with cystic fibrosis have a defect in chromosome number seven, which is thought to have developed many years ago as a protective response of the human body against cholera (just a theory). The disease causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body such as the pancreas, liver, and intestine. It also causes a loss of electrolytes in sweat because of an abnormal chloride movement. About one thousand new cases of cystic fibrosis are diagnosed each year and more than seventy percent of these patients are diagnosed by the age of two. Cystic fibrosis is considered a multisystem disease because of the following effects of the thick, viscid secretions. In the respiratory system, small and large airways are obstructed, which then results in difficulty breathing. The accumulation and stasis of the secretions create a medium of growth for organisms that will cause repeated respiratory infections. The thick secretions in the lungs and response of tissues to infections cause hypoxia that can lead to heart...
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...Course: Date: Introduction Cystic fibrosis (CF) refers to an inherited problem of the mucus glands. Mucus is a substance that is usually slippery secreted by the body to cover the digestive system, lungs, and reproductive system as well as other tissues and organs. CF makes the body to release excessive mucus that is extremely thick and sticky, which can cause various health issues. Among these health issues are difficulty in coughing, chest repetitive infections, lengthy diarrhea and deprived gain of weight. If the condition is not treated it would cause extensive complications, which may lead to early death. Nevertheless, if the condition is identified early and the child is exposed to proper treatment, the symptoms of CF are controllable and children may live longer. Different authors have different views on CF as they all try to get into a conclusion on how the health condition should be resolved. Since CF is inherited, the defective gene must be passed from both the parents to the child in order to acquire the disease else if only a faulty gene is inherited, the child becomes a carrier. Actually carries of cystic fibrosis do not have the disease but can pass to other individuals. There are proposals on improvements as well as challenges in executing the CF treatment process. The paper discusses the proposal below. Literature Review According to Norm Brown (2009), the gene responsible for CF was identified and it was named Cystic Fibrosis Trans-membrane Conductance...
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...have been around for decades now. Its is not anything new. Cystic Fibrosis affects both the lungs and pancreas. Thousands, and millions of people have been diagnosed with CF worldwide. But, what are the causes and effects of Cystic Fibrosis? Cystic Fibrosis is a genetic disease that affects the lungs, pancreas, and gall bladder. CF also affects the respiratory and digestive system. The person with CF would have had to be born with a defective gene, which did not work correctly, causing thick mucus to build up in the lungs, pancreas, and gall bladder. The disease, CF was first described and named by Dorothy Anderson in 1938. Dorothy Anderson was born in Asheville, North Carolina, May 15, 1901. Dorothy had...
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...mutation can be caused by deletion of bases in DNA, insertion of bases, substitution when the DNA is first ‘unzipped’ – this results in the wrong mRNA codon being translated - mutations can also be chromosomal (An example of this would be Down’s syndrome). Because one of the bases in the mRNA strand has altered due to deletion or insertion etc, it no longer matches the triple codon (tRNA is the small transfer RNA that brings the amino acid to the protein that’s being formed), this alters the amino acid formed and in turn can alter the protein function that’s being made. The alteration in the protein makes it have a different function, which could either be for the good or something more serious like Cystic Fibrosis. Cystic Fibrosis (CF) This is a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR Protein) which affects 1 in 2500 live births in the UK. There is...
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...Eur Respir J 1999; 14: 452±467 Printed in UK ± all rights reserved Copyright #ERS Journals Ltd 1999 European Respiratory Journal ISSN 0903-1936 SERIES "CHEST PHYSIOTHERAPY" Edited by S.L. Hill and B. Webber Number 3 in this Series Effects of drugs on mucus clearance E. Houtmeyers, R. Gosselink, G. Gayan-Ramirez, M. Decramer Effects of drugs on mucus clearance. E. Houtmeyers, R. Gosselink, G. Gayan-Ramirez, M. Decramer. #ERS Journals Ltd 1999. ABSTRACT: Mucociliary clearance (MCC), the process in which airway mucus together with substances trapped within are moved out of the lungs, is an important defence mechanism of the human body. Drugs may alter this process, such that it is necessary to know the effect of the drugs on MCC. Indeed, agents stimulating MCC may be used therapeutically in respiratory medicine, especially in patients suspected of having an impairment of their mucociliary transport system. In contrast, caution should be taken with drugs depressing MCC as an undesired side-effect, independently of their therapeutic indication. Since cough clearance (CC) serves as a back-up system when MCC fails, the influence of drugs must be examined not only on MCC but also on CC. Ultimately, the clinical repercussions of alterations in mucus transport induced by drug administration must be studied. Tertiary ammonium compounds (anticholinergics), aspirin, anaesthetic agents and benzodiazepines have been shown to be capable of depressing the mucociliary transport system...
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...Josiah Hicks Genetic (Or Not) Disorders There are many diseases and disorders in the world, they all have different causes and effects. Some of the causes may be genetic, some might be the result of the surrounding environments, and some even remain unexplained. Today, I’m going to cover some of them, I’m going to explain the causes of the disorders, the resulting effects of the disorder, and if there is a cure. Sickle cell anemia or SCD is a hereditary disorder (meaning that it is acquired through the parents) and is categorized by the most prominent effect on the body’s production and storage of the a molecule in...
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...What causes humans to become ill? Humans can get ill a variety of different ways, anything we eat or come into contact with may cause illness in a human. In this essay I will outline different potential illnesses that a human may suffer with. When a human comes into contact with something that causes an abnormal immune response we call it an allergy. When allergy-prone person initially comes into contact with an allergen their B-cells produce IgE antibody, this antibody produced binds to mast cells which are found throughout the body. The second contact with this allergen, the mast cells with IgE present produces histamine which then lead to allergy symptoms such as running nose, sneezing and watery eyes. There are millions of types of different bacteria, some good and some bad called pathogens, which can make a human ill. When a pathogen enters the body it attaches to cells, potentially damaging the cells and releases its toxins. The bodies white blood cells can destroy the pathogens however while the body destroys the pathogens it may also damage the surrounding tissue. In most cases antibiotics can be taken to kill the bacteria, it does this by stopping their growth or killing them it does this by preventing the bacteria from building up a cell wall. An example of a bacteria is acne, acne is caused by bacteria growing near or in the sebaceous glands in the skin which causes inflammation and white pus. Viruses also enter the body and attach to a host using it to reproduce...
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...Gene Therapy The ability that gene therapy gives humans, could easily be looked at as playing God. In simpler words could scientists be making human bodies survive deathly diseases, or are scientists just simply damaging future gene pools? Ethically speaking, are scientists improving bodies to save Gods people, or are scientists just trying to make Gods people perfect and in the end just damaging the bodies’ people inhibit. The amount of technology for gene therapy is bursting into a quicker pace day by day, with some thoughts though, is it going quick enough? Gene therapy is one of the most amazing advances in the medical field. Being able to know we can change ones genetic history is something out of the ordinary. Being able to change diseases could benefit our survival in the long run. The thought of being able to treat diseases with the hope of cures for such diseases as Cancer, AIDS, PKU, etc. should be thought of as a "God sent." There could be no thought of a superhuman as a result. It is just childish to think something like that can happen. With our genetic makeup causing no harm or pain, the line should be drawn to this point. Gene therapy is one of the most tremendously helping advances in the medical field. Just being able to think that it can help with genetic diseases and disorders is something out of the ordinary. The thought that scientists can help the human race survive these diseases and disorders is amazing. The ability...
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...Biology Topic A: Science and fiction 9Aa Genetic information The features of an organism are called its characteristics. Our characteristics are controlled by genetic information. This information Organisms can be classified in to different species. A species contains individuals with the same physical characteristics and common ancestors. It’s a group of organisms that can reproduce with each other and produce an offspring that will also be able to reproduce. Organisms of the same species are similar but not identical. The differences that occur both between different species and within the same species are called variation. An animal that is the offspring of parents from two different species is called a hybrid, and it is unable to reproduce. When genetic information are passed on to an organism from its parents the information are said to be inherited. Most cells have a nucleus, which is a part of the cell that controls it. The nucleus contains chromosomes which are huge molecules of DNA found inside the nucleus of the cells. A chromosome consists of a string of genes. A gene carries an instruction. It’s the section of a chromosome that controls inherited characteristics of an organism and carries genetic information. Each gene is a length of DNA. DNA is a long coiled molecule which can unzip and copy itself when a cell divides. It also carries the genetic code and makes up the chromosomes. Sex cells-egg: In female the sex cells are called eggs. Eggs...
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...1910 and causes significant morbidity and mortality, particularly in African people and Mediterranean ancestry. 2. Approximately half the individuals with homozygous HbS disease experience vaso-occlusive crises. The frequency of crises is extremely variable. Some individuals have as 6 or more episodes annually, whereas others may have episodes only at great intervals or none at all. Each individual typically has a consistent pattern for crises frequency. And occur in children that are carriers inherit the sickle cell disease from both parents. 3. Because the genetic disorder is completely recessive, a person with only one SCS alleles and on unaffected allele will have a mixed phenotype and won’t suffer the experience the ill effects of the disease and yet still poses a sickle cell trait. If two carriers will have 25% chance of disease and 50% a child will be a carrier. 4. It will be caused by the presence of two incompletely recessive red blood cells are exposed to low-oxygen conditions, cells lose their healthy round shape and become sickle cell shaped. 5. Everyone is carriers of genes that are responsible for creating hemoglobin. 6. I would just be honest with the couple and make them understand all about the disease and what treatments are available for the child and make sure that they attend counseling programs with other parents to help them though this situation. I must give proper medical advice and plans for procedures to follow. 7. It can...
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...Potential effects of life factors and events on the development of an individual. By Amy Stephens P2, P3 2015 Amy J [Type the company name] 1/1/2015 In this assignment I will be explaining the potential effects of different life factors towards and individual and then I'll try to explain the influences that come from these effects including two life events of the development of an individual. The five factors that can have an effect on someone's development and the ones I will be talking about are Biological, Genetic, Environmental, Life style and Socioeconomic. P2: Explain the potential effects of five different life factors on the development of an individual on two particular life stages. My two chosen life stages are childhood and the mother of the child so adulthood. The first potential life factor that can have an effect on an individual's development throughout their life is Biological factors, this factors includes Foetal alcohol syndrome, Infections during pregnancy and also the effects of an individual's diet. The environment inside a women's womb can have a dramatic influence on the development of the child for example if a women was to smoke regularly throughout pregnancy then the nicotine can have an effect on the foetus and its development. This is because nicotine can limit the amount of blood and nutrition that reaches the foetus, children that are born mothers that smoke during pregnancy are known to weight a lot less than a regular baby would...
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...genes are introduced into the body to treat diseases. It is the name applied to the treatment of inherited diseases by corrective genetic engineering of the dysfunctional genes. It is part of a broader field called genetic medicine, which involves the screening, diagnosis, prevention and treatment of hereditary conditions in humans. The results of genetic screening can pinpoint a potential problem to which gene therapy can sometimes offer a solution. Genes represent the genetic material that organisms pass on from generation to generation. Therefore, genes are responsible for controlling hereditary traits and provide the basic biological code or blueprint for living organisms. Genes produce protein such as hair and skin as well as proteins that are important for the proper functioning of organs. Mutated or defective genes often cause disease. The purpose of gene therapy is to replace a defective gene with a normal copy of the same gene in attempt to restore function. Initially conceived as an approach for treating inherited diseases, like cystic fibrosis and Huntington's disease, the scope of potential gene therapies has grown to include treatments for cancers, arthritis, and infectious diseases. Although gene therapy testing in humans has rapidly advanced, in general, the field of gene therapy has proven to be problematic and complicated by a variety of ethical issues. For example, some scientists are concerned that the integrating genes into the human genome may cause disease...
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...saving lives, giving them the ability to fight back the illness, taking away the pain and bringing peace to those who need it most. Medical Cannabis has helped thousands of people with more than just Cancer, Cannabis helps Epilepsy, Multiple sclerosis, Tumors, Arthritis, Cystic Fibrosis, the list can literally go on forever, yet it is still illegal in more than 25 states. Medical Marijuana is a class 1 illegal drug which permits free use and the ability to be prescribed by Doctors. Cannabis has 480 chemicals with 66 cannabinoids,that are unique to the plant chemicals that have infinite potential of positive medical miracles; alone each one has its own benefits but together as one cohesive item it is ,as said by: Federal Judge...
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... Both parents are heterozygous for the faulty allele Cystic fibrosis is an inherited disorder caused by a recessive allele. This genetic diagram shows the possible outcomes when both parents are heterozygous for the faulty allele. There is a one in four chance of the offspring being homozygous for the faulty allele, and so having cystic fibrosis. ----------------------- Fit people are able to carry out physical activities more effectively than unfit people. Their pulse rate is likely to return to normal more quickly after exercise. But being fit is not the same as being healthy. Healthy people are free from disease and infection: they may or may not be fit as well. It is possible to be fit but unhealthy, or healthy but unfit. High blood pressure can cause: • kidney damage • burst blood vessels • damage to the brain, including strokes Low blood pressure can cause: • fainting • dizziness • poor...
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