Monday, January 27, 2020

Causes of Air Pollution | The Impact of Air Pollution

Causes of Air Pollution | The Impact of Air Pollution Air pollution is the chemical, particulate, and biological matter that can harm or distress human, living organism, or the natural environment into the atmosphere. In this project, the researcher team studied the causes and effects of the air pollution in the United Arab Emirates and discovered and will discuss the main causes of the pollution and their effects on the environment. Also, some statistics about the percentage of air pollution will be discussed from previous studies in the UAE such as governmental and private statistical data. In addition, solution for protecting the air pollution will be studied in order to have better environment to live in. Additionally, the team will discuss a case study regarding the effects of air pollution in UAE. The goal of the project is to study the cause of the air pollution in UAE and how it can affect the environment. Also, the next goal is to give some solutions that can save the environment and give some awareness in protecting the air pollution. In the past fifty years, UAE had an excessive development in many fields such as buildings, industries, and transportation after oil discovering. Due to the increases of the projects, the air starts getting many pollutants such as dusts, Chemical gases, Carbon Dioxide emissions which led to an increase in the air pollution. Statistics show that the United Arab Emirates is the fourth highest country in Carbon Dioxide emissions between the Arab countries and 32 all over the world. The steady increase in the air pollution can affect the humanity in the short term and long term such as Acid rain and health problem which lead to study the pollution in the region. Limitation In this project, the research team will study the air pollution in the UAE and will not go further to Middle East or the world due to time limitation and amount of work that have been done for the topic. The time period of the research topic will be for the last five years. It is just the industry and civilization has been spread widely in UAE at this period which will be enough for the research time. In addition, the research team will get from previous studies and statistics about air pollution in UAE due to shortage in resources and equipment for the topic. Review of the Literature History of air pollution in UAE The problem relates with the air pollution has been in the UAE since 1958 after discovering the oil field in Abu Dhabi and another one in Dubai 1966. The problem of air pollution start increase steadily after the first industry came in Abu Dhabi 1966 then another one in the Al Ain and Sharjah in 1969.there is many industries can affect enormously in the region. According to the Ministry of Environment and Water in UAE, 6 Industries produced different dangerous chemical organic, 9 industries produces cements which can also affect the air and 2 other industries has been shut down due to violent in regulation and the gas emission. There are now 3593 Industries in UAE as you can see in table below. The most industries are in Jabel Ali Free Zone and the Sharjah Industrial Areas. Cities Abu Dhabi Dubai Sharjah Ajman Um Al Quwain RAK Fujairah Total No of Industries 409 1491 874 493 53 212 61 3593 Percentage 11.38% 41.50% 24.33% 13.72% 1.48% 5.90% 1.70% 100.00% Table : Number of Industries in UAE (UAE Export and Indusry directly, 2010) The number of cars has been increased dramatically for the last 20 years the statistics below show the number of increase in cars in 2009 in Dubai. Type of car Light Vehicles Heavy Vehicles Light Bus Heavy Bus Light Mechanical Vehicles Heavy Mechanical Vehicle Motorcycle Leisure Motorcycle Vehicle for disable TOTAL Number of car 837765 55768 25782 22317 7671 18714 17844 15 4 1021879 Table : Number of car in Dubai 2009 (Dubai statistical centre, 2009) There are really a huge problem with the huge increment of the cars which really cause a huge traffic because statistics show UAE is one of the highest countries in the traffic especially in Dubai and Sharjah which can cause really a huge problem such as the car air pollution. Studies showed that 80% from the air pollution in Dubai came from the emissions of gases from cars. There were many ways to think and start of protecting air pollution. In 1993, Dubai Municipality started putting some of the air quality stations system to protect the gas emissions in the city. Also, in 1993, UAE Federal government imposed some laws in order to prevent the air pollution. As we can see today there are many government organization and many laws that control the area such UAE air control monitoring laws. Causes and effects of air pollution in UAE: The first cause is motor vehicles: Motor vehicles are considered one of the main causes of air pollution, as there is a steady increase in the number of production annually. Moreover, Vehicles have the largest impact on environment. As a result, motor vehicles produce more air pollution. According to statistical report, the population growth was less than the production of motor vehicles, as the population growth was two percent and the motor vehicles production was five percent. In addition, vehicles major cause for air pollution is the static combustion of fossil fuel. Also the smoke produced from the burning of the fuel produces many harmful gases, the main ones are, Carbon monoxide (CO), Nitrogen oxide (NO), and sulfur dioxide (SO2). Figure : Air Toxic Emissions from on Road Mobile Source Carbon monoxide: Carbon monoxide is a toxic colorless gas which is emitted from the tail pipe of the car. The reason behind emission such gas into the environment is either the lack of maintained of the vehicle, such as, broken air bumps and dirty filters, or the incomplete combustion of the fuel. Effects: CO toxicity is one of the most fatal air poisoning around the world. Although it is tasteless and colorless, it is high in toxicity. This is because; it combines with hemoglobin forming carboxyhemogoblin, which decreases the efficiency of red blood cells to transfer oxygen to body tissues. Moreover, this process is known as anoxemia. Additionally, small concentrations such as 677 ppm (parts per million) can cause the conversion of more than fifty percent of the bodys hemoglobin to carboxyhemoglobin , which can cause seizure, coma, and fatality. The most common signs of poisoning are such as headache, nausea, vomiting, dizziness, fatigue and a feeling of weakness. Also, it can affect the nervous system, as it can cause confusion, disorientation, visual disturbance, syncope and seizures. Further, it can cause the damage to the heart and the fetus of the pregnant women. Nitrogen Oxide: Nitrogen oxide is one of the most toxic gases which can be produced from the car engines, incomplete combustion of fossil fuel and fertilizers. Effects: The Nitrogen oxides can help in the formation of the acid rain, it is a major factor in global warming, it slows down the growth of plants, it can react with other pollutants; thus, forming more toxic chemicals. Nitrogen oxides effects are nausea, irritated eyes and nose, fluid forming in lungs and tininess of breath. Furthermore, inhaling large amount of Nitrogen oxides can lead to rapid, burning seizure; inflammation of throat; reduced oxygen ingestion; a larger buildup of fluids in lungs; thus death. Nitrogen oxides can interact with aerosols which can cause enormous respiratory problems. As well, Nitrogen oxides can lead to permanent visual impairment in the area affected by it. Sulfur dioxide: Sulfur dioxide is a chemical compound which has the formula of SO2, it is produced when coal and fuel is burned, as fuel and sulfur contains sulfur compounds. Effects: The sulphur dioxide is very dangerous, as it causes breathing problems, such as, alteration in the lungs defences, deterioration in respiratory system and cardiovascular disease. As well, Ones who suffer from asthma, chronic lung and heart disease are the largely sensitive to SO2. Additionally, it can lead to the damage of trees and crops. SO2, by the side of nitrogen oxides, are the major pioneers in formation of acid rain, which causes the acidification of lakes and streams, speed up the corrosion of buildings and reduced visibility. SO2 also contributes in climate change. The second cause is volatile organic compounds: Volatile organic compounds are organic materials that have significant vapor pressure; as a result, it is easy for these organic compounds to evaporate quickly at a very low temperature. Further, some of these gases are considered dangerous on humans health, the environment and the ozone layer. Additionally, the major sources for the VOC are paints, coatings, Chlorofluorocarbons and chlorocarbons. Painting and coatings used in doors emit ethyl acetate, glycol ethers, and acetone, which are very harmful to the human beings health. Additionally, chlorofluorocarbons and chlorocarbons, they are widely used in dry cleaning and the production of fossil fuel. Effects: Certain kinds of VOCs, such as styrene and limonene, can go on with a react ion with nitrogen oxides, or with ozone; thus, producing new oxidation products. Moreover, it can produce secondary aerosols, which can lead to sensory irritation symptoms. What is more, it can cause eye, nose and throat irritation, headaches, loss of coordination and nausea, damage to liver, kidney, and central nervous system. Additionally, it can lead to cancer in animals and cancer in humans. The third cause is Deforestation: Deforestation is the removal of forest or a group of tress and then the land is converted to non forest use. There are many reasons regarding deforestation, such as, Urban and Construction Purposes, as they use the wood obtained from trees for building materials, furniture, and paper products. Moreover, Forests are also removed to provide accommodation for escalating urban areas. Furthermore, Forests are removed so that to clear land for growing crops and for grazing cattle. Additionally, trees are used as a source of fuel, as they are converted to charcoal in order to be used in cooking and heating purposes. Effects: Erosion of soil: as the forests are removed, the soil is countenancing the sun, causing dryness to the soil and losing its nutrients. As a result, it will be impossible to cultivate again. Disruption of the Water Cycle: trees helps maintaining the balance of water in the ecosystem, as the trees are removed, the weather gets drier and unhealthy. Flooding and Drought: One of the vital functions of forests is to absorb and store great amounts of water quickly when there are heavy rains. When forests are cut down, this regulation of the flow of water is disrupted, which leads to alternating periods of flood and then drought in the affected area. Climate Change: It is well known that global warming is being caused largely due to emissions of greenhouse gases like carbon dioxide into the atmosphere. However, what is not known quite as well is that deforestation has a direction association with carbon dioxide emissions into the atmosphere. Trees act as a major storage depot for carbon, since they absorb carbon dioxide from the atmosphere, which is then used to produce carbohydrates, fats, and proteins that make up trees. When deforestation occurs, many of the trees are burnt or they are allowed to rot, which results in releasing the carbon that is stored in them as carbon dioxide. This, in turn, leads to greater concentrations of carbon. Case study of air Pollution in UAE A case study had been conducted to study the burden of diseases in UAE in long and short terms. There study the Impact of the Particulate Matter (PM) and Ozone (O3) in ambient air and how it going to affect people in the region. The World Health Organization defined that the total death due to Particulate Matter was 200, but didnt report the diseases due to other air pollutants. As results, theses study has been conducted in order to clarify the number disease due to other pollutant. Other status that relate to some effect to people by air such as smoking habit, health care statues, working and living environment are not considered. Firstly, the researcher of this study studied the PM and O3 in UAE as shown in the next two figures. Figure : A contour map show PM concentration in UAE Figure : A contour map show O3 concentration in UAE The next part of the study was to see number of death people in the region due to the between 545 (542 adults and 3 children) has diseases from PM, 209 (208 adults and 1 children) has a dead from it and 162 death from the O3 effects over the past 30 year the next two figures show the percentage of death including some uncertainties. Figure : chart show causes and death by PM Figure : chart show causes and death by O3 Method and discussion: As the research is limited to UAE region, the group was going to allocate sources related to the UAE region. The sources was books, online books, journals and online journals, as the group located some books that discuss the air pollution problems: such as, the major causes of air pollution in UAE and the effects of these causes on the UAE residents. In addition, some of the article had been seen some of the cause and effect in UAE. Also, the researcher team searched and found of some of the air pollution that affected the region. As allocation of credible evidence to the problem is required, the team searched for statistical data such as Chemical element emissions in Abu Dhabi and Dubai. After the group finishes the causes and effects of air pollution allocation, we will suggest solutions that can be implemented for better future and healthier generations. The following table showed that amount of work we did in the Multidisciplinary Projects. In addition, the project chart flow has been included by PRIMAVERA to be more a lear image of the duration of the project which Start from October 13th, 2010 and finished at January 16th, 2011 with total of 98 days. Duration (Days) Activity Description Early Start Early Finish Late Start Late Finish 6 Making the Tasks 13-Oct-10 20-Oct-10 13-Oct-10 20-Oct-10 10 Background of the Topic 21-Oct-10 3-Nov-10 21-Oct-10 3-Nov-10 8 Time Limitation 4-Nov-10 15-Nov-10 4-Nov-10 15-Nov-10 18 Study Cause of Air pollution in UAE 21-Nov-10 14-Dec-10 21-Nov-10 14-Dec-10 18 Case Studies 21-Nov-10 14-Dec-10 28-Nov-10 21-Dec-10 20 Study Effect of Air pollution in UAE 21-Nov-10 16-Dec-10 21-Nov-10 16-Dec-10 10 Statistical Data 22-Dec-10 4-Jan-11 22-Dec-10 4-Jan-11 5 Making Recommendation 5-Jan-11 11-Jan-11 5-Jan-11 11-Jan-11 3 Making Written and Oral Presentation 12-Jan-11 16-Jan-11 12-Jan-11 16-Jan-11 Table : Timeline of the Scheule Figure : A flow Chart of the Project Results In order to know the quality of air in the UAE, statistical data about the amounts of pollutants emissions was retrieved for analysis. However, working with statistical data raises two problems first is accuracy and second reliability. Since, statistical data are collected from samples, it is very important to have both accurate and reliable data if the results were to be generalized over the whole population. To ensure that our data are as accurate and reliable as possible we used governmental statistics center of Abu Dhabi and Dubai to find our results. The results found focuses on the emission of three main pollutants which are Carbon monoxide, Sulfur dioxide and Nitrogen dioxide. Moreover, the results cover two main cities in the UAE, Abu Dhabi and Dubai. Since, the research is limited to five years; the results cover the years 2005 to 2009. Because statistical data need time to be gathered and published by the government, the emission results for the year 2010 were not included in the research. Furthermore, the city of Abu Dhabi was divided into three main areas, main city Abu Dhabi, Al-Ain and Western Region. Dubai, on the other hand, was divided into six main areas, which are Diera, Safa, AlKaramah, Mushrif, Jabel Ali Village and Jabel Ali Port. Analyzing these results will show the exact amounts of pollution in each part, which will help in identifying the areas with the highest pollution levels. Knowing that, the recovery from pollution should be concentrated in these regions. Since, the results cover the last five years; we can know the trends in the emission of pollutants. This helps in identifying the areas were the pollution increases and the rate at which it increases. These results are very important in our research because it focuses our concentration in fewer areas which is more practical. Note that all the pollution levels are found in micrograms per meter cube (mcg/m3) and na means not-available. Carbon monoxide (CO) Abu Dhabi Only available data from 2007 to 2009 2007 2008 2009 Abu Dhabi 5.4 10.5 10.72 Al Ain 5.72 7.9 13.3 Western Region na na na Table : CO emission in Abu Dhabi Dubai 2005 2006 2007 2008 2009 Deira 1.6 3.4 5.4 9.6 10.9 Safa 1.3 3.6 5.5 8.8 10.8 AlKaramah 1.8 4.2 4.1 1.1 Mushrif Jabel Ali Village Jabel Ali Port Table : CO Emission in Dubai Sulfur dioxide (SO2) Abu Dhabi Only available data from 2007 to 2009 2007 2008 2009 Abu Dhabi 149 173.1 330 Al Ain 86 123.4 31 Western Region 161 124 179 Table : SO2 Emission in Abu Dhabi Dubai 2005 2006 2007 2008 2009 Deira 0.09 0.017 0.027 0.018 0.006 Safa AlKaramah Mushrif Jabel Ali Village 0.022 0.12 0.024 Jabel Ali Port 0.034 0.021 0.019 0.021 Table : SO2 Emission in Dubai Nitrogen dioxide (NO2) Abu Dhabi Only available data from 2007 to 2009 2007 2008 2009 Abu Dhabi 278 187.4 321.0 Al Ain 271 147.2 234 Western Region 192 72.6 289 Table : NO2 Emission in Abu Dhabi Dubai 2005 2006 2007 2008 2009 Deira 0.492 0.302 0.225 0.113 Safa 0.261 0.091 0.319 0.319 0.063 AlKaramah 0.445 0.306 0.091 Mushrif Jabel Ali Village 0.439 0.306 0.23 0.217 0.067 Jabel Ali Port 0.306 0.306 0.173 0.117 Table : NO2 Emission in Dubai Conclusions and Recommendations Conclusions There is no doubt that air pollution is one of the severe problems that people are facing nowadays and want strongly to get rid of. There is one question that the research team members have asked themselves regularly and the question is Why have we decided to choose the air pollution topic to be our project to talk about in the English 207 course? the answer of this question has been clarified and verified due to the importance of the topic and its widespread facts that the world is concerning about these days. Getting the definition, the causes, the effects of the air pollution, the team has already got in love with the topic of air pollution and strongly wanted to write about it and search about it more to know the real facts beyond this topic. The air pollution is a problem including and concerning each individual in this world. During Industry, combustion of engines, burning coal, smoking and emissions of green gasses are exceeding the limits and increasing the percentage of the air pollution. But as far as the EPA has a group that is concerning with its difficult task to help this polluted air from the humanity risk, the air is getting its freshness and cleanness. Dont you think that it is our mission also to support the EPA group and stop the humanity risk from the air pollution risks, so lets be one hand combing the seriousness of this topic to avoid the risks on this polluted air to be more worse than this. We cannot say that people can eliminate this issue completely because humans industry doesnt finish and his/her greed to get more is increasing day after day disregarding the case of their polluting the air that we are breathing. So, we can minimize this phenomenon by reducing these emissions and polluting factors of the air. Recommendations It is a very crucial step to point out that each project has been done, is being done or will be done is ending with some results. These results are either satisfied with the humans nature or unsatisfied. The project that has been done by our research team shows some results that are unsuitable for the human beings, this environment and also to a very important kind of humanity which is the humanity resources. Nobody can deny that air pollution has severe problems on humans environment and can perfectly damage humans life. What is remaining of this damaged environment and this polluted air that we are breathing? People are keeping in resolving their faults and they are in anxiety to keep this environment clean to be proper to live in. In fact, the results of the project are followed by some recommendations created or found by the research team to show how to keep a good humanity environment and having good humanity resources. As it has been shown that most of the natural resources an d also humans are affected by the air pollution and this has been shown in this project in the term of effects of air pollution on humanity. The mankind can cause a lot of destruction to himself/herself and can reduce a lot of this destruction he/she has done. It is obligatory and a crucial task for anyone of us to keep this environment clean to live in and to let others live in in a proper way. To reduce these effects on humanity, the research team has done some kind of suggestions and recommendations that could properly reduce the effects of the causes of the air pollution as follows: *Steps to reduce the level of Carbon Monoxide, Carbon Dioxide, Sulfur Dioxide and other green gasses causing air pollution: Doing a regular vehicle maintenance and this to reduce the percentage of the Carbon Monoxide and Dioxide coming out of the cars exhaust. Reducing the percentage of burning trash and coal which are producing most of the Carbon Dioxide and then affecting the Ozone layer and increasing the percentage of the Acid rain. Reducing the Green house Gas emissions including water vapor, carbon dioxide, methane, nitrogen oxides, and other harmful gasses causing the temperature increasing and then the global warming. Trying hard and putting all efforts to use the clean renewable and non polluting sources. Getting help from engineers to invent new technologies that are friendly to the environment such as the solar car that is powered and used in many cities nowadays. The solar cars could perfectly decrease the percentage of the emissions of either the Carbon Monoxide or Carbon Dioxide that are produced from millions of regular combustion cars engines. The most important is to stop smoking in order to decrease the Carbon Monoxide in the air. Also, people can use recycled products in order to decrease the global warming in the world. Following the EPA rules (Environmental Protection Agency). The EPA has done a lot of steps in the case of reducing the air pollution following the steps shown above. The EPA has proved that the air pollution is still growing by 10% even the steps are followed. The most important thing that could be done by the human himself/herself is warning people regarding the enormous bad effects of the air pollution. Also, they can give some lectures that advising people to reduce the percentage of the air pollution through some statistically and theoretically useful data, lectures and workshops. References: [1] Statistical Yearbook of Abu Dhabi 2010,Statictics centre Abu Dhabi, January 2011. [2] Ying Li et al., Burden of disease attributed to anthropogenic air pollution in the United Arab Emirates: Estimates based on observed air quality data,Science of the Total Environment, vol. 408, no. 2010, pp. 5784 5793, August 2010. [3] (2010, July) UAE Export and Directly. [Online]. HYPERLINK http://www.uaeexportdirectory.com/en/ResultStat.aspx http://www.uaeexportdirectory.com/en/ResultStat.aspx [4] (2010, December) Air Pollution Indicators at Monitoring Sites Emirate of Dubai. Pdf File. [5] (2010, October) Enviremntal Preotection Agency. [Online]. HYPERLINK http://www.epa.gov/ http://www.epa.gov/ [6] (2010, November) Intelligent Life of Deforestation. [Online]. HYPERLINK http://www.buzzle.com/articles/causes-and-effects-of-deforestation.html http://www.buzzle.com/articles/causes-and-effects-of-deforestation.html [7] (2009, Febraury) Sulphur Dioxide (SO2). [Online]. HYPERLINK http://www.airqualityontario.com/science/pollutants/sulphur.cfm http://www.airqualityontario.com/science/pollutants/sulphur.cfm [8] (2007, April) Agency for toxic subtances and Diease Registry. [Online]. HYPERLINK http://www.atsdr.cdc.gov/tfacts175.html http://www.atsdr.cdc.gov/tfacts175.html [9] (2010, July) Ministry of Enviromental and Water. [Online]. HYPERLINK http://www.moew.gov.ae/Ar/InformationCenter/Pages/ManufacturesGuide.aspx http://www.moew.gov.ae/Ar/InformationCenter/Pages/ManufacturesGuide.aspx

Saturday, January 18, 2020

Cystic Fibrosis

————————————————- Introduction Cystic fibrosis  (also called  CF  or  mucoviscidosis) is an  autosomal  recessive  genetic disorder  that affects most critically the  lungs, and also the  pancreas,  liver, and  intestine. It is characterized by abnormal transport of  chloride  and  sodium  across an  epithelium, leading to thick, viscous secretions. The name  refers to the characteristic  scarring  (fibrosis) and  cyst  formation within the  pancreas that was first recognized in the 1930s.Difficulty in breathing  is the most serious symptom and results from frequent  lung infections  which are treated with  antibiotics, therapies and several other medications. Other  symptoms, including  sinus infections,  poor growth, and  infertility affect other parts of the body. A breathing treatment for cystic fibrosis, usi ng a mask nebulizer and a ThAIRapy Vest A breathing treatment for cystic fibrosis, using a mask nebulizer and a ThAIRapy Vest CF is caused by a  mutation  in the  gene  for the  protein  cystic fibrosis trans-membrane conductance regulator  (CFTR).This protein is required to regulate the components of sweat,  digestive  juices, and  mucus. CFTR regulates the movement of  chloride  and  sodium ions across epithelial membranes, such as the alveolar epithelia located in the  lungs. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder's recessive nature. CF develops when neither gene works normally (as a result of mutation) and therefore has  autosomal recessive  inheritance.CF is most common among  Caucasians; one in 25 people of European descent  carries one  allele  for CF. The  World Health Organization  states that â€Å"In the European Union, 1 in 200 0–3000 new-borns is found to be affected by CF†. Individuals with cystic fibrosis can be diagnosed before birth by  genetic testing or by a  sweat test  in early childhood. Ultimately,  lung transplantation  is often necessary as CF worsens. ————————————————- Signs and symptomsThe hallmark symptoms of cystic fibrosis are salty tasting skin,  poor growth and poor weight gain despite a normal food intake,  accumulation of thick, sticky mucus, frequent chest infections, and coughing or shortness of breath. Signs and symptoms often appear in infancy and childhood, such as  bowel movement obstruction  in new-born babies. As the children grow, they must exercise to release the mucus present in the alveoli. Ciliated  epithelial cells present  in the patient have a mutated protein that leads to abnormally viscous mucus production.The poor growth in children typically presents as an inability to gain weight or height at the same rate as their peers and is occasionally not diagnosed until investigation is initiated for poor growth. The causes of growth failure are multifactorial and include chronic lung infection, poor absorption of nutrients through the gastrointestinal tract, and increased metabolic demand due to chronic illness. In rare cases, cystic fibrosis can manifest itself as a coagulation disorder. A double recessive allele is needed for cystic fibrosis to be apparent.Young children are especially sensitive to vitamin  malabsorptive disorders because only a very small amount of vitamin K crosses the placenta, leaving the child with very low reserves. Because factors II, VII, IX, and X (clotting factors) are vitamin K–dependent, low levels of vitamin K can result in coagulation problems. Consequently, when a child presents with unexplained bruising, a coagulation evaluation may be warranted to determine whet her there is an underlying disease. Lungs and sinuses Lung disease results from clogging of the airways due to mucus build-up, decreased  mucociliary clearance, and resulting  inflammation.Inflammation and infection cause injury and structural changes to the lungs, leading to a variety of symptoms. In the early stages, regular incessant coughing along with copious  phlegm  production, and decreased ability to exercise are common. Many of these symptoms occur when  bacteria that normally inhabit the thick mucus grow out of control and cause pneumonia. In later stages, changes in the architecture of the lung, such as pathology in the major airways (bronchiectasis), further exacerbate difficulties in breathing.Other symptoms include coughing up blood (hemoptysis), high  blood pressure  in the lung (pulmonary hypertension),  heart failure, difficulties getting enough  oxygen to the body (hypoxia), and respiratory failure requiring support with breathing masks, such asà ‚  bi-level positive airway pressure  machines or  ventilators. Staphylococcus aureus, Haemophilus influenzae, and  Pseudomonas aeruginosa  are the three most common organisms causing lung infections in CF patients. In addition to typical bacterial infections, people with CF more commonly develop other types of lung disease.Among these is  allergic bronchopulmonary aspergillosis, in which the body's response to the common  fungus  Aspergillus fumigatus  causes worsening of breathing problems. Another is infection with Mycobacterium avium  complex (MAC), a group of bacteria related to  tuberculosis, which can cause a lot of lung damage and does not respond to common antibiotics. Mucus in the  paranasal sinuses  is equally thick and may also cause blockage of the sinus passages, leading to infection. This may cause facial pain, fever, nasal drainage, and  headaches.Individuals with CF may develop overgrowth of the nasal tissue (nasal polyps) due to inflammati on from chronic sinus infections. Recurrent sinonasal polyps can occur in as many as 10% to 25% of CF patients. These polyps can block the nasal passages and increase breathing difficulties. Cardiorespiratory complications are the most common cause of death (~80%) in patients at most CF centers in the United States. Gastrointestinal Prior to prenatal and  newborn screening, cystic fibrosis was often diagnosed when a newborn infant failed to pass feces (meconium).Meconium may completely block the  intestines  and cause serious illness. This condition, called  meconium ileus, occurs in 5–10%  of newborns with CF. In addition, protrusion of internal  rectal  membranes (rectal prolapse) is more common, occurring in as many as 10% of children with CF, and it is caused by increased fecal volume, malnutrition, and  pressure due to coughing. The thick mucus seen in the lungs has a counterpart in thickened secretions from the  pancreas, an organ responsible for provi ding digestive  that help break down food.These secretions block the  exocrine  movement of the digestive enzymes into the  duodenum and result in irreversible damage to the pancreas, often with painful inflammation (pancreatitis). The  pancreatic ducts  are totally plugged in more advanced cases, usually seen in older children or adolescents. This causes atrophy of the exocrine glands and progressive fibrosis. The lack of digestive enzymes leads to difficulty absorbing nutrients with their subsequent excretion in the feces, a disorder known as malabsorption. Malabsorption leads to  malnutrition  and poor growth and evelopment because of calorie loss. Resultant hypoproteinemia  may be severe enough to cause generalized edema. Individuals with CF also have difficulties absorbing the fat-soluble vitamins  A,  D,  E, and  K. In addition to the pancreas problems, people with cystic fibrosis experience more  heartburn, intestinal blockage by  intussusception , and constipation. Older individuals with CF may develop  distal intestinal obstruction syndrome  when thickened feces cause intestinal blockage. Exocrine pancreatic insufficiency occurs in the majority (85% to 90%) of patients with CF.It is mainly associated with â€Å"severe† CFTR mutations, where both alleles are completely nonfunctional (e. g. ?F508/? F508). It occurs in 10% to 15% of patients with one â€Å"severe† and one â€Å"mild† CFTR mutation where there still is a little CFTR activity, or where there are two â€Å"mild† CFTR mutations. In these milder cases, there is still sufficient pancreatic exocrine function so that enzyme supplementation is not required. There are usually no other GI complications in pancreas-sufficient phenotypes, and in general, such individuals usually have excellent growth and development.Despite this, idiopathic  chronic pancreatitis  can occur in a subset of pancreas-sufficient individuals with CF, and is a ssociated with recurrent abdominal pain and life-threatening complications. Thickened secretions also may cause liver problems in patients with CF. Bile  secreted by the liver to aid in digestion may block the  bile ducts, leading to liver damage. Over time, this can lead to scarring and nodularity (cirrhosis). The liver fails to rid the blood of toxins and does not make important  proteins, such as those responsible for  blood clotting. Liver disease is the third most common cause of death associated with cystic fibrosis.Endocrine Clubbing in the fingers of a person with cystic fibrosis Clubbing in the fingers of a person with cystic fibrosis The  pancreas  contains the  islets of Langerhans, which are responsible for making insulin, a hormone that helps regulate blood  glucose. Damage of the pancreas can lead to loss of the islet  cells, leading to a type of diabetes that is unique to those with the disease. This cystic fibrosis-related diabetes  (CFRD) shares characteristics that can be found in  type 1and  type 2  diabetics, and is one of the principal non-pulmonary complications of CF.Vitamin D is involved in  calcium  and  phosphate  regulation. Poor uptake of vitamin D from the diet because of malabsorption can lead to the bone disease  osteoporosis  in which weakened bones are more susceptible to  fractures. In addition, people with CF often develop clubbing  of their fingers and toes due to the effects of chronic illness and  low oxygen  in their tissues. Infertility Infertility  affects both men and women. At least 97% of men with cystic fibrosis are infertile, but not sterile and can have children with assisted reproductive techniques.The main cause of infertility in men with cystic fibrosis is congenital absence of the vas deferens  (which normally connects the  testes  to the  ejaculatory ducts  of the  penis), but potentially also by other mechanisms such as causing  azoospermia,  te ratospermia  and  oligoasthenospermia. Many men found to have congenital absence of the vas deferens during evaluation for infertility have a mild, previously undiagnosed form of CF. Some women have fertility difficulties due to thickened cervical mucus or malnutrition. In severe cases, malnutrition disrupts  ovulation  and causes  amenorrhea. ———————————————— Cause CF is caused by a  mutation  in the  gene  cystic fibrosis trans-membrane conductance regulator  (CFTR). The most common mutation,  ? F508, is a deletion (? signifying deletion) of three nucleotides  that results in a loss of the amino acid  phenylalanine  (F) at the 508th position on the protein. This mutation accounts for two-thirds (66–70%) of CF cases worldwide and 90% of cases in the  United States; however, there are over 1500 other mutations that can produce CF.Althou gh most people have two working copies (alleles) of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither allele can produce a functional CFTR protein. Thus, CF is considered an  autosomal recessive disease. The  CFTR gene, found at the q31. 2  locus  of  chromosome 7, is 230,000  base pairs  long, and creates a protein that is 1,480  amino acids  long. More specifically the location is between base pair 117,120,016 to 117,308,718 on the long arm of chromosome 7, region 3, band 1 and sub-band 2, represented as 7q31. . Structurally, CFTR is a type of gene known as an  ABC gene. The product of this gene (the CFTR) is a chloride ion channel important in creating sweat,  digestive  juices and  mucus. This protein possesses two  ATP-hydrolyzing  domains, which allows the protein to use  energy  in the form of  ATP. It also contains two domains comprising 6  alpha helices  apiece, which allow the protein to cross the cell membrane. A regulatory  binding site  on the protein allows activation by  phosphorylation, mainly by  cAMP-dependent protein kinase.The  carboxyl terminal  of the protein is anchored to the  cytoskeleton  by a  PDZ  domain interaction. In addition, there is increasing evidence that  genetic modifiers  besides CFTR modulate the frequency and severity of the disease. One example is  mannan-binding lectin, which is involved in  innate immunity  by facilitating  phagocytosis  of microorganisms. Polymorphisms in one or both mannan-binding lectin alleles that result in lower circulating levels of the protein are associated with a threefold higher risk of end-stage lung disease, as well as an increased burden of chronic bacterial infections. ———————————————— Pathophysiology Molecular structure of the CFTR protein Molecular structure of the CFTR protein There are several mutations in the  CFTR  gene, and different mutations cause different defects in the CFTR protein, sometimes causing a milder or more severe disease. These protein defects are also targets for drugs which can sometimes restore their function. ?F508-CFTR, which occurs in >90% of patients in the U. S. , creates a protein that does not  fold  normally and is degraded by the cell.Other mutations result in proteins that are too short (truncated) because  production  is ended prematurely. Other mutations produce proteins that do not use energy normally, do not allow  chloride iodide  and  thiocyanate  to cross the membrane appropriately,  or are degraded at a faster rate than normal. Mutations may also lead to fewer copies of the CFTR protein being produced. The protein created by this gene is anchored to the  outer membrane of  cells  in the  sweat glands, lungs, pancreas, and all other remaining exocrine glands in the body.Th e protein spans this membrane and acts as a  channel  connecting the inner part of the cell (cytoplasm) to the  surrounding fluid. This channel is primarily responsible for controlling the movement of halogens from inside to outside of the cell; however, in the sweat ducts it facilitates the movement of chloride from the sweat into the cytoplasm. When the CFTR protein does not work, chloride and thiocyanate  are trapped inside the cells in the airway and outside in the skin. Then  hypothiocyanite, OSCN, cannot be produced by immune defense system.Because chloride is  negatively charged, this creates a difference in the electrical potential inside and outside the cell causing  cations  to cross into the cell. Sodium is the most common cation in the extracellular space and the combination of sodium and chloride creates the  salt, which is lost in high amounts in the sweat of individuals with CF. This lost salt forms the basis for the sweat test. Most of the damage in CF is due to blockage of the narrow passages of affected organs with thickened secretions.These blockages lead to remodeling and infection in the lung, damage by accumulated digestive enzymes in the pancreas, blockage of the intestines by thick faeces, etc. There are several theories on how the defects in the protein and cellular function cause the clinical effects. One theory is that the lack of halogen and pseudohalogen (mainly, chloride, iodide and thiocyanate) exiting through the CFTR protein leads to the accumulation of more viscous, nutrient-rich mucus in the lungs that allows bacteria to hide from the body's  immune system.Another theory is that the CFTR protein failure leads to a paradoxical increase in sodium and chloride uptake, which, by leading to increased water reabsorption, creates dehydrated and thick mucus. Yet another theory is that abnormal chloride movement  out  of the cell leads to dehydration of mucus, pancreatic secretions, biliary secretions, etc. Chr onic infections The lungs of individuals with cystic fibrosis are colonized and infected by bacteria from an early age. These bacteria, which often spread among individuals with CF, thrive in the altered mucus, which collects in the small airways of the lungs.This mucus leads to the formation of bacterial microenvironments known as biofilms that are difficult for immune cells and antibiotics to penetrate. Viscous secretions and persistent respiratory infections repeatedly damage the lung by gradually remodeling the airways, which makes infection even more difficult to eradicate. Over time, both the types of bacteria and their individual characteristics change in individuals with CF. In the initial stage, common bacteria such as  Staphylococcus aureus  and  Hemophilus influenzae  colonize and infect the lungs.Eventually,  Pseudomonas aeruginosa  (and sometimes  Burkholderia cepacia) dominates. By 18 years of age, 80% of patients with classic cystic fibrosis harbor  Ps eudomonas aeruginosa, and another 3. 5% harbor Burkholderia cepacia. Once within the lungs, these bacteria adapt to the environment and develop  resistance  to commonly used antibiotics. Pseudomonas  can develop special characteristics that allow the formation of large colonies, known as â€Å"mucoid†Ã‚  Pseudomonas, which are rarely seen in people that do not have CF. One way infection spreads is by passing between different individuals with CF.In the past, people with CF often participated in summer â€Å"CF Camps† and other recreational gatherings. Hospitals grouped patients with CF into common areas and routine equipment (such as  nebulizers)  was not sterilized between individual patients. This led to transmission of more dangerous strains of bacteria among groups of patients. As a result, individuals with CF are routinely isolated from one another in the healthcare setting and healthcare providers are encouraged to wear gowns and gloves when examining p atients with CF to limit the spread of virulent bacterial strains.CF patients may also have their airways chronically colonized by filamentous fungi (such as  Aspergillus fumigatus,  Scedosporium apiospermum,  Aspergillus terreus) and/or yeasts (such as  Candida albicans); other filamentous fungi less commonly isolated include Aspergillus flavus  and  Aspergillus nidulans  (occur transiently in CF respiratory secretions), and  Exophiala dermatitidis  and Scedosporium prolificans  (chronic airway-colonizers); some filamentous fungi like  Penicillium emersonii  and  Acrophialophora fusisporaare encountered in patients almost exclusively in the context of CF.Defective mucociliary clearance characterizing CF is associated with local immunological disorders. In addition, the prolonged therapy with antibiotics and the use of corticosteroid treatments may also facilitate fungal growth. Although the clinical relevance of the fungal airway colonization is still a ma tter of debate, filamentous fungi may contribute to the local inflammatory response, and therefore to the progressive deterioration of the lung function, as often happens with allergic broncho-pulmonary aspergillosis (ABPA) – the ost common fungal disease in the context of CF, involving a Th2-driven immune response to Aspergillus. ————————————————- Diagnosis and monitoring CFTR gene on chromosome 7 CFTR gene on chromosome 7 Cystic fibrosis may be diagnosed by many different methods including  newborn screening,  sweat testing, and genetic testing. As of 2006 in the United States, 10 percent of cases are diagnosed shortly after birth as part of newborn screening programs.The newborn screen initially measures for raised blood concentration of immunoreactive trypsinogen. Infants with an abnormal newborn screen need a sweat test to confirm the CF diagnosis. In many cases, a parent makes the diagnosis because the infant tastes salty. Trypsinogen  levels can be increased in individuals who have a single mutated copy of the  CFTR  gene (carriers) or, in rare instances, in individuals with two normal copies of the  CFTR  gene. Due to these  false positives, CF screening in newborns can be controversial.Most states and countries do not screen for CF routinely at birth. Therefore, most individuals are diagnosed after symptoms (e. g. sinopulmonary disease and GI manifestations) prompt an evaluation for cystic fibrosis. The most commonly used form of testing is the sweat test. Sweat-testing involves application of a medication that stimulates sweating (pilocarpine). To deliver the medication through the skin, iontophoresis  is used to, whereby one  electrode  is placed onto the applied medication and an electric current  is passed to a separate electrode on the skin.The resultant sweat is then collected on filter paper or in a capi llary tube and analyzed for abnormal amounts of  sodium  and  chloride. People with CF have increased amounts of sodium and chloride in their sweat. In contrast, people with CF have less thiocyanate and  hypothiocyanite  in their saliva and mucus. CF can also be diagnosed by identification of mutations in the CFTR gene. People with CF may be listed in a  disease registry  that allows researchers and doctors to track health results and identify candidates for  clinical trials. PrenatalCouples who are pregnant or planning a pregnancy can have themselves tested for the CFTR gene mutations to determine the risk that their child will be born with cystic fibrosis. Testing is typically performed first on one or both parents and, if the risk of CF is high, testing on the  fetus  is performed. The  American College of Obstetricians and Gynecologists  (ACOG) recommends testing for couples who have a personal or close family history of CF, and they recommend that carrie r testing be offered to all Caucasian couples and be made available to couples of other ethnic backgrounds.Because development of CF in the fetus requires each parent to pass on a mutated copy of the CFTR gene and because CF testing is expensive, testing is often performed initially on one parent. If testing shows that parent is a CFTR gene mutation carrier, the other parent is tested to calculate the risk that their children will have CF. CF can result from more than a thousand different mutations, and as of 2006 it is not possible to test for each one. Testing analyzes the blood for the most common mutations such as ? F508—most commercially available tests look for 32 or fewer different mutations.If a family has a known uncommon mutation, specific screening for that mutation can be performed. Because not all known mutations are found on current tests, a negative screen does not guarantee that a child will not have CF. During pregnancy, testing can be performed on the  pla centa  (chorionic villus sampling) or the fluid around the fetus (amniocentesis). However,  chorionic villus sampling  has a risk of fetal death of 1 in 100 and amniocentesis of 1 in 200;  a recent study has indicated this may be much lower, approximately 1 in 1,600.Economically, for carrier couples of cystic fibrosis, when comparing pre-implantation genetic diagnosis (PGD) with natural conception (NC) followed by prenatal testing and abortion of affected pregnancies, PGD provides net economic benefits up to a maternal age of approximately 40 years, after which NC, prenatal testing and abortion has higher economic benefit. ————————————————- Management While there are no cures for cystic fibrosis there are several treatment methods. The management of cystic fibrosis has improved significantly over the past 70 years.While infants born with cystic fibrosis 70 years ag o would have been unlikely to live beyond their first year, infants today are likely to live well into adulthood. Recent advances in the treatment of cystic fibrosis have meant that an individual with cystic fibrosis can live a fuller life less encumbered by their condition. The cornerstones of management are proactive treatment of  airway infection, and encouragement of good nutrition and an active lifestyle. Management of cystic fibrosis continues throughout a patient's life, and is aimed at maximizing organ function, and therefore quality of life.At best, current treatments delay the decline in organ function. Because of the wide variation in disease symptoms treatment typically occurs at specialist multidisciplinary centers, and is tailored to the individual. Targets for therapy are the  lungs,  gastrointestinal tract  (including pancreatic enzyme supplements), the  reproductive organs  (including (ART) and psychological support. The most consistent aspect of therapy in cystic fibrosis is limiting and treating the lung damage caused by thick mucus and infection. Intravenous,  inhaled, and oral antibiotics are used to treat chronic and acute infections.Mechanical devices and inhalation medications are used to alter and clear the thickened mucus. These therapies, while effective, can be extremely time-consuming for the patient. One of the most important battles that CF patients face is finding the time to comply with prescribed treatments while balancing a normal life. In addition, therapies such as  transplantation  and  gene therapy  aim to cure some of the effects of cystic fibrosis. Gene therapy aims to introduce normal CFTR to airway. Theoretically this process should be simple as the airway is easily accessible and there is only a single gene defect to correct.There are two CFTR gene introduction mechanisms involved, the first use of a viral vector (adenovirus, adeno-associated virus or retro virus) and secondly the use of  lipo some. However there are some problems associated with these methods involving efficiency (liposomes insufficient protein) and delivery (virus provokes an immune response). Antibiotics Many CF patients are on one or more  antibiotics  at all times, even when healthy, to  prophylactically  suppress infection. Antibiotics are absolutely necessary whenever pneumonia is suspected or there has been a noticeable decline in lung function, and are usually chosen based on the results of a putum analysis and the patient's past response. This prolonged therapy often necessitates hospitalization and insertion of a more permanent  IV  such as a  peripherally inserted central catheter  (PICC line) or  Port-a-Cath. Inhaled therapy with antibiotics such as tobramycin,  colistin, and  aztreonam  is often given for months at a time to improve lung function by impeding the growth of colonized bacteria. Oral antibiotics such as ciprofloxacin or  azithromycin  are given to hel p prevent infection or to control ongoing infection. The  aminoglycoside  antibiotics (e. g. obramycin) with long-term use can cause  several side effects such as hearing loss, damaging the  balance system  present in the  inner ear  and producing many chronic kidney problems  . To prevent these  side-effects, the amount of antibiotics in the blood are routinely measured and adjusted accordingly. Other treatments for lung disease Several mechanical techniques are used to dislodge sputum and encourage its expectoration. In the hospital setting, chest physiotherapy (CPT) is utilized; a respiratory therapist percusses an individual's chest with his or her hands several times a day, to loosen up secretions.Devices that recreate this percussive therapy include the  ThAIRapy Vest  and the  intrapulmonary percussive ventilator  (IPV). Newer methods such as  Biphasic Cuirass Ventilation, and associated clearance mode available in such devices, integrate a cough a ssistance phase, as well as a vibration phase for dislodging secretions. These are portable and adapted for home use. Aerosolized medications that help loosen secretions include  dornase alfa  and  hypertonic  saline. Dornase is a  recombinant  human deoxyribonuclease, which breaks down DNA in the  sputum, thus decreasing its  viscosity.Denufosol  is an investigational drug that opens an alternative chloride channel, helping to liquefy mucus. As lung disease worsens, mechanical breathing support may become necessary. Individuals with CF may need to wear special masks at night that help push air into their lungs. These machines, known as  bi-level positive airway pressure  (BiPAP) ventilators, help prevent low blood oxygen levels during sleep. BiPAP may also be used during physical therapy to improve sputum clearance. During severe illness, a  tube  may be placed in the throat (a procedure known as a  tracheostomy) to enable breathing supported by a  ven tilator.For children living with CF, preliminary studies show pediatric massage therapy may improve patients and their families’ quality of life, though more rigorous studies must be done. Transplantation Lung transplantation  often becomes necessary for individuals with cystic fibrosis as lung function ceases and  exercise tolerance  declines. Although single lung transplantation is possible in other diseases, individuals with CF must have both lungs replaced because the remaining lung might contain bacteria that could infect the transplanted lung.A pancreatic or liver transplant may be performed at the same time in order to alleviate liver disease and/or diabetes. Lung transplantation is considered when lung function declines to the point where assistance from mechanical devices is required or patient survival is threatened. Other aspects Intracytoplasmic sperm injection can be used to provide fertility for men with cystic. .fibrosis Intracytoplasmic sperm injection c an be used to provide fertility for men with cystic. .fibrosis New-borns with intestinal obstruction typically require surgery, whereas adults with  distal intestinal obstruction syndrome typically do not.Treatment of pancreatic insufficiency by replacement of missing digestive enzymes allows the duodenum to properly absorb nutrients and vitamins that would otherwise be lost in the faeces. So far, no large-scale research involving the incidence of  atherosclerosis  and  coronary heart disease  in adults with cystic fibrosis has been conducted. This is likely due to the fact that the vast majority of people with cystic fibrosis do not live long enough to develop clinically significant atherosclerosis or coronary heart disease.Diabetes  is the most common non-pulmonary complication of CF. It mixes features of  type 1and  type 2  diabetes, and is recognized as a distinct entity,  cystic fibrosis-related diabetes (CFRD). While oral  anti-diabetic drugs  are somet imes used, the only recommended treatment is the use of  insulin  injections or an  insulin pump,  and unlike in type 1 and 2 diabetes, dietary restrictions are not recommended. Development of  osteoporosis  can be prevented by increased intake of vitamin D and  calcium, and can be treated by  bisphosphonates, although  adverse effects  can be an issue.Poor growth may be avoided by insertion of a  feeding tube  for increasing  calories  through supplemental feeds or by administration of injected  growth hormone. Sinus infections are treated by prolonged courses of antibiotics. The development of nasal polyps or other chronic changes within the nasal passages may severely limit airflow through the nose, and over time reduce the patient's sense of smell. Sinus surgery is often used to alleviate nasal obstruction and to limit further infections. Nasal steroids such as  fluticasone  are used to decrease nasal inflammation.Female infertility may be overc ome by  assisted reproduction  technology (ART) with the help of embryo transfer  techniques. Male infertility caused by absence of the  vas deferens  may be overcome with  testicular sperm extraction  (TEST), collecting sperm cells directly from the testicles. If the collected sample contains too few sperm cells to likely have a spontaneous  fertilization,  intracytoplasmic sperm injection  can be performed. Third party reproduction  is also a possibility for women with CF. ————————————————- PrognosisThe prognosis for cystic fibrosis has improved due to earlier diagnosis through screening, better treatment and access to health care. In 1959, the median age of survival of children with cystic fibrosis in the United States was six months. In 2008, survival averaged 37. 4 years. In Canada, median survival increased from 24 years in 1982 to 47. 7 in 2007 . Of those with cystic fibrosis who are more than 18 years old as of 2009; 92% had graduated from  high school, 67% had at least some college education, 15% were disabled and 9% were unemployed, 56% were single and 39% were married or living with a partner.In Russia  the overall median age of patients is 25, which is caused by the absence or high cost of medication and the fact that lung transplantation is not performed. Quality of life Chronic illnesses can be very difficult to manage. Cystic fibrosis (CF) is a chronic illness that affects the â€Å"digestive and respiratory tracts resulting in generalized malnutrition and chronic respiratory infections†. The thick secretions clog the airways in the lungs, which often cause inflammation and severe lung infections. Therefore, mucus makes it challenging to breathe.If it is compromised, it affects the quality of life of someone with CF, and their ability to complete such tasks as everyday chores. It is important for CF pati ents to understand the detrimental relationship that chronic illnesses place on the quality of life. Havermans and colleagues (2006) have shown that young outpatients with CF that have participated in the CFQ-R (Cystic Fibrosis Questionnaire-Revised) â€Å"rated some QOL domains higher than did their parents†. Consequently, outpatients with CF have a more positive outlook for themselves.Furthermore, there are many ways to improve the QOL in CF patients. Exercise is promoted to increase lung function. The fact of integrating an exercise regimen into the CF patient’s daily routine can significantly improve the quality of life. There is no definitive cure for Cystic Fibrosis. However, there are diverse medications used such as, mucolytics, bronchodilators, steroids and antibiotics that have the purpose of loosening mucus, expanding airways, decreasing inflammation and fighting lung infections. ————————— Ã¢â‚¬â€Ã¢â‚¬â€Ã¢â‚¬â€Ã¢â‚¬â€Ã¢â‚¬â€Ã¢â‚¬â€-Epidemiology Mutation| Frequency worldwide| ?F508| 66%–70%| G542X| 2. 4%| G551D| 1. 6%| N1303K| 1. 3%| W1282X| 1. 2%| All others| 27. 5%| Cystic fibrosis is the most common life-limiting autosomal recessive disease among people of  Caucasian heritage. In the United States, approximately 30,000 individuals have CF; most are diagnosed by six months of age. In  Canada, there are approximately 3,500 people with CF. Approximately 1 in 25 people of European descent, and one in 30 of Caucasian Americans, is a carrier of a cystic fibrosis mutation.Although CF is less common in these groups, approximately 1 in 46  Hispanics, 1 in 65  Africans  and 1 in 90 Asians  carry at least one abnormal CFTR gene. Ireland has the world's highest incidence of cystic fibrosis, at 1:1353. Although technically a  rare disease, cystic fibrosis is ranked as one of the most widespread life-shortening genetic diseases. It is most common among nations in the Western world. An exception is  Finland, where only one in 80 people carry a CF mutation. In the United States, 1 in 4,000 children are born with CF. In 1997, about 1 in 3,300 Caucasian children in the United States was born with cystic fibrosis.In contrast, only 1 in 15,000 African American children suffered from cystic fibrosis, and in Asian Americans the rate was even lower at 1 in 32,000. Cystic fibrosis is diagnosed in males and females equally. For reasons that remain unclear, data has shown that males tend to have a longer  life expectancy  than females,  however recent studies suggest this gender gap may no longer exist perhaps due to improvements in health care facilities,  while a recent study from Ireland identified a link between the female hormone, estrogen and worse outcomes in CF.The distribution of CF alleles varies among populations. The frequency of ? F508 carriers has been estimated at 1:200 in northern Sweden, 1:143 in Lithuanians, and 1 :38 in Denmark. No ? F508 carriers were found among 171  Finns  and 151  Saami people. ?F508 does occur in Finland, but it is a minority allele there. Cystic fibrosis is known to occur in only 20 families (pedigrees) in Finland. Hypotheses about prevalence The  ? F508  mutation is estimated to be up to 52,000 years old. Numerous hypotheses have been advanced as to why such a lethal mutation has persisted and spread in the human population.Other common autosomal recessive diseases such as  sickle-cell anemia have been found to protect carriers from other diseases, a concept known as  heterozygote advantage. Resistances to the following have all been proposed as possible sources of heterozygote advantage: * Cholera: With the finding and discovery that  cholera toxin  requires normal host CFTR proteins to function properly, it was hypothesized that carriers of mutant CFTR genes benefited from resistance to cholera and other causes of diarrhea. Further studies have not confirmed this hypothesis. Typhoid: Normal CFTR proteins are also required essentially for the entry of  Salmonella typhi  into cells,  suggesting that carriers of the mutant CFTR genes might be resistant to  typhoid fever. No  in vivo  study has yet confirmed this. In both cases, the low level of cystic fibrosis outside of Europe, in places where both cholera and typhoid fever are  endemic, is not immediately explicable. * Diarrhea: It has also been hypothesized that the prevalence of CF in Europe might be connected with the development of cattle domestication. In this hypothesis, carriers of a ingle mutant CFTR chromosome had some protection from diarrhea caused by lactose intolerance, prior to the appearance of the mutations that created lactose tolerance. * Tuberculosis: Another explanation is that carriers of the gene could have some resistance to TB. ——————————————à ¢â‚¬â€Ã¢â‚¬â€- History It is supposed that CF appeared about 3,000 BC because of migration of peoples, gene mutations, and new conditions in nourishment. Although the entire clinical spectrum of CF was not recognized until the 1930s, certain aspects of CF were identified much earlier.Indeed, literature  from Germany and Switzerland in the 18th century warned  Wehe dem Kind, das beim Ku? auf die Stirn salzig schmekt, er ist verhext und muss bald sterbeor â€Å"Woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon must die,† recognizing the association between the salt loss in CF and illness. Dorothy Hansine Andersen Dorothy Hansine Andersen In the 19th century,  Carl von Rokitansky  described a case of fetal death with  meconium peritonitis, a complication of meconium ileus associated with cystic fibrosis.Meconium ileus was first described in 1905 by  Karl Landsteiner. In 1936,  Guido Fanconi  published a paper describing a conn ecting link between  celiac disease, cystic fibrosis of the pancreas, and bronchiectasis. In 1938  Dorothy Hansine Andersen  published an article, â€Å"Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: a Clinical and Pathological Study,† in the  American Journal of Diseases of Children. She was the first to describe the characteristic cystic fibrosis of the pancreas and to correlate it with the lung and intestinal disease prominent in CF.She also first hypothesized that CF was a recessive disease and first used pancreatic enzyme replacement to treat affected children. In 1952 Paul di Sant' Agnese discovered abnormalities in  sweat  electrolytes; a  sweat test  was developed and improved over the next decade. The first linkage between CF and another marker (Paroxonase) was found in 1985, indicating that only one locus exists for CF  Hans Eiberg. In 1988 the first mutation for CF,  ? F508  was discovered by  Francis Collins,  Lap-Che e Tsui  and  John R. Riordan  on the seventh chromosome.Subsequent research has found over 1,000 different mutations that cause CF. Because mutations in the CFTR gene are typically small,  classical genetics  techniques had been unable to accurately pinpoint the mutated gene. Using protein markers,  gene-linkage  studies were able to map the mutation to chromosome 7. Chromosome-walking and  -jumping  techniques were then used to identify and  sequence  the gene. In 1989 Lap-Chee Tsui led a team of researchers at the Hospital for Sick Children  in  Toronto  that discovered the gene responsible for CF.Cystic fibrosis represents the first genetic disorder elucidated strictly by the process of  reverse genetics. ————————————————- Research Gene therapy Gene therapy  has been explored as a potential cure for cystic fibrosis. Ideally, gene therapy places a normal copy of the  CFTR gene into affected cells. Transferring the normal CFTR gene into the affected epithelium cells would result in the production of functional CFTR in all target cells, without adverse reactions or an inflammation response.Studies have shown that to prevent the lung manifestations of cystic fibrosis, only 5–10% the normal amount of CFTR  gene expression  is needed. Multiple approaches have been tested for gene transfer, such as liposomes and viral vectors in animal models and clinical trials. However, both methods were found to be relatively inefficient treatment options. The main reason is that very few cells take up the vector and express the gene, so the treatment has little effect. Additionally, problems have been noted in cDNA recombination, such that the gene introduced by the treatment is rendered unusable.With the help of the  Cystic Fibrosis Trust, which has a league of highly professional gene therapists, both somatic and Adeno -associated viral vector have made advances. The  Adenoviridae, or more commonly known as the cold virus, is genetically altered, allowing the CFTR gene to enter lung cells. Small molecules A number of  small molecules  that aim at compensating various mutations of the CFTR gene are under development. One approach is to develop drugs that get the ribosome to overcome the  stop codon  and synthesize a full-length CFTR protein.About 10% of CF results from a premature stop codon in the DNA, leading to early termination of protein synthesis and truncated proteins. These drugs target nonsense mutations  such as G542X, which consists of the amino acid  glycine  in position 542 being replaced by a stop codon. Aminoglycoside antibiotics interfere with DNA synthesis and error-correction. In some cases, they can cause the cell to overcome the stop codon, insert a random amino acid, and express a full-length protein.The aminoglycoside  gentamicin  has been used to treat lun g cells from CF patients in the laboratory to induce the cells to grow full-length proteins. Another drug targeting nonsense mutations is  ataluren, which is undergoing Phase III clinical trials as of October 2011. BIBLIOGRAPHY 1. BIOLOGY TEXTBOOK FOR CLASS – XII (NCERT) 2. TRUEMAN’S BIOLOGY FOR CLASS – XII 3. SCIENCE REPORTER (September, 2007) 4. THE NEWYORK TIMES (December 22, 2009) 5. www. google. co. in/cysticfibrosis 6. en. wikipedia. org/wiki/Cystic_fibrosis 7. www. ncbi. nlm. nih. gov 8. www. cff. org/ 9. www. cysticfibrosis. com/ 10. www. cftrust. org. uk/

Friday, January 10, 2020

Artificial Intelligence in Today’s Society

Artificial Intelligence in Today’s Society Larry Anderson INF103 Instructor Geathers November 21, 2011 â€Å"The goal of many computer scientists since the mid-20th century has been to create a computer that could perform logical operations. †(Bowles, 2010, 9. 2). The journey to achieving this is called Artificial Intelligence, which is considered to be the branch of computer science that is focused on creating machines that engage in human behavior, and intelligence. â€Å"The term Artificial Intelligence was first coined at the Dartmouth Conference in 1956 by John McCarthy. † (McCorduck, 2004, 2. ). â€Å"The Dartmouth conference paved the way for examining the use of computers to process symbols, the need for new languages and the role of computers for theorem proving instead of focusing on hardware that simulated intelligence. †(Krishnamoorthy & Rajeev, 1996, 9. 1). Even though this name was coined in 1956, we saw artificial intelligence 15 years earli er when the electronic computer was created in 1941. Artificial Intelligence is an exciting subject that will only get better with time, allowing humans to do things that were never thought to be reality, until the last few decades. In this paper, I will be telling you about the four main studies of artificial intelligence and their importance to our society, as well as how they are affecting our everyday lives. These four studies are expert systems, natural language, neural networks, and robotics. Mostly all artificial intelligences can be categorized under these four studies. Not only are these technologies making life easier, they are making life more enjoyable for all societies. The first study of artificial intelligence I will talk about is expert systems. Expert systems are computer programs that contain large amounts of information in a certain field. These programs use this large amount of information to solve problems that normally would require human intelligence. The great thing about expert systems is that they can process information, in seconds, which would take humans days. Every expert system is made up of two parts: knowledge, and reasoning. â€Å"The knowledge base of the expert systems contains both factual and heuristic knowledge. †(Engelmore & Feigenbaum, 1993, 1. 2). The knowledge is the information, while the reasoning is the problem solving aspect of the expert system. One common, but powerful paradigm involves chaining of if-then rules to form a line of reasoning. †(Engelmore & Feigenbaum, 1993, 1. 2). For example, if you have these symptoms, then you must have a head cold. Expert systems are affecting our everyday lives by diagnosing illnesses, and predicting the weather. â€Å"One of the first systems was a computer that could perform a medical diagnosis. † (Bowles, 2010, 9. 2). A doctor can enter symptoms into a computer, and then process a few questions for the doctor; after answering the questions the computer will make a diagnosis of the patient. This is very useful to doctors because now they can see more patients, and give promising diagnosis efficiently. The second way expert systems are affecting our lives is by predicting the weather. Meteorologists are using these systems to help predict hurricanes and tornadoes. This is very helpful to society, giving people more evacuation time during major storms. The second study of artificial intelligence is Natural Language, which is considered human language. â€Å"Natural language processing programs use artificial intelligence to allow a user to communicate with a computer in the user’s natural language. (Poole & Mackworth, 2010, 12. 6). The computer can both understand and respond to commands given in human language. The two biggest hurdles in this study are phonetic knowledge, and pragmatic knowledge. Phonetic knowledge concerns how words are realized, and how words are realized as sounds. Pragmatic Knowledge has to do with how sentences are used in different contexts and how that affects sentence interpretation. Even with the tough barriers of language, and the meaning of words computer specialists are producing helpful natural language processing programs to better society. When was the last time you made a customer service call? Natural language is affecting you when you call a customer service number, and an automated voice tells you to say a command. â€Å"Voice-recognition systems are now handling night and weekend toll-free directory assistance calls for big corporations. † (Poole & Mackworth, 2010, 12. 6). For example if you need to check your balance for a cell phone bill, a voice-recognition system can assist, without the need of a human. This allows the human customer service representatives to help customers with more complex questions. Another way natural language is being used is with Google’s real time translation application. With this application you can take snapshots of things in a different language with your phone and it will translate the words into your language in seconds. This can be useful when you are traveling in different countries, needing directions, or when you are selecting from a menu in a different language. â€Å"A neural network is, in essence, an attempt to simulate the brain. Neural network theory revolves around the idea that certain key properties of biological neurons can be extracted and applied to simulations, thus creating a simulated, and very much simplified brain. †(Reingold & Nightingale, 4. 1). The first important thing to understand is that artificial neural networks are an attempt to recreate the computing potential of the brain. However, no one has ever simulated anything as complex as an actual brain which makes it very difficult to finish the whole project. Credit card fraud is very big in the present day, because many people are not using cash; instead they are using credit cards and debit cards to make transactions. â€Å"Nearly 400,000 transactions per day are of fraudulent charges. † (Brause & Langsdorf, 1). Neural Networks are being used to detect fraud transactions with the principal of pattern recognition. Every time a credit card user uses their card there is a pattern of transaction. Neural network software uses information such as how much money a person makes, type of transactions made, and how frequent certain transactions are made to predict fraud. â€Å"Neural network based fraud detection is based totally on the human brain working principal. As the human brain learns through past experience and uses its knowledge or experience in making the decision in daily life problem the same technique is applied with the credit card fraud detection technology. † (Patidar & Sharma 2. ). The last study of artificial intelligence I will be talking about is robotics. Robots are physical agents that perform tasks by manipulating the physical world. â€Å"They perform tasks which are idealizations or extensions of human capabilities. †(Selig, 1992, 1. 1). Robots have four characteristics; sensing, movement, energy, and intelligence. First off, a robot must sense its surroundings u sing light, touch, and pressure sensors. Secondly a robot must have movement; a robot needs to move around in its in environment, whether or not the whole robot moves, or just parts. Thirdly, a robot needs power to function properly, this energy could be solar, electrical, or battery powered. Last, it must have some kind of intelligence, such as software from a programmer in order to operate. Actual robots might seem like far off science fiction, but that is not the case robots have been affecting our everyday life for years. One of the biggest uses for robots today is in the automotive industry. Over the past few decades robots have completely changed the automobile industry in many ways. Even though the use of robots has also led to many workers losing their jobs, it is very cost effective. The robots are used for welding, painting, drilling, sanding, cutting, and moving tasks in manufacturing plants. The robots have improved this industry with a job efficiency that couldn’t be duplicated by humans. These robots have made assembly lines and factories safer by handling jobs that are too dangerous and too difficult for workers to perform. Another great way that robots are working in society’s favor is by cleaning up toxic and contaminated areas that would otherwise be harmful to humans. The biggest reason that robots are able to do these jobs is that they can be easily shielded against hazardous environments and are easily replaceable, unlike humans. Robots are used to clean up nuclear waste or clean ammunition, and landmines all over the world. Robots are also an asset to the military because they can detect and diffuse bombs in a combat zone. These robots are saving lives every day because they are able to go into situations that are life threating to humans and get the job done. The studies of expert systems, natural language, neural networks, and robotics are just in their early stages of advancements, but are already showing important promising characteristics for the future of mankind. We already see these advancements being put to the test by making medical diagnosis, predicting weather, voice automated services, catching transaction fraud, building automobiles, and cleaning up hazardous wastes. There is no doubt that Artificial Intelligence is already affecting society in ways that were never imagined decades ago. Technology will continue to explode into the next few decades, excelling in Artificial Intelligence, how we embrace the advances, will define us as a society. Resources: Bowles, Mark, D. (2010). Introduction to Computer Literacy. San Diego, CA: Bridgepoint Education. McCorduck, P. (2004). Machines Who Think. Natick, MA. AK Peters, Ltd. Krishnamoorthy, C. , Rajeev, S. (1996). Artificial Intelligence and Expert Systems for Engineers. CRC Press. Englemore, R. & Feigenbaum, E. (1993). Expert Systems and Artificial Intelligence. WTEC Hyper-Librarian. Poole, D. & Mackworth, A. 2010). Artificial Intelligence Foundations of Computational Agents. Cambridge University Press. Reingold, E. & Nightingale, J. Artificial Intelligence Tutorial Review. http://www. psych. utoronto. ca/users/reingold/courses/ai/ai. html Brause, R. & Langsdorf. Neural Data Mining for Credit Card Fraud Detection. J. W. Goethe-University. Frankfurt, Germany. Patidar, R. & Sharma, L. (2011). International Journal of Soft C omputing and Engineering. Jaipur, India. Selig, J. (1992). Introductory Robotics. Englewood Cliffs, NJ: Prentice Hall International.

Thursday, January 2, 2020

How Will Autonomous Robots Change Military Tactics Essay

. This technology is still under development. But how will autonomous robots change military tactics? Many experts agree and disagree on using them on the battlefield. Because robots don t have human thinking and they don t behave ethically, but some expert agrees that these technologies will change military tactics. When the United States went to war in Afghanistan in 2001 and Iraq in 2003, American ground forces arrived without the support of robotic weapons. A decade later, U.S. forces had deployed more than 6,000 ground robots to aid with surveillance and bomb detection and destruction. Robots will be more effective than humans. Because they don t sleep, eat and they won t need time to rest. Since there robots, they don t need to train for long period of time. They won t be affected by the weather.A good example is an unmanned vehicle commonly known as drones. These drones can operate in land, air and sea. Through the use of this drones the military already changing its military ta ctics instead of sending soldiers they can send drones to attack or to scan the area for the potential threat which can save a soldier s life. Even though they are effective in military operations. But there are still people who disagree because some say machines can be unpredictable. In 2007, the United States deployed its first armed military robots in Iraq called Special Weapons Observation Remote Direct-Action System (SWORDS). The robots used Talon platforms equipped with an M249Show MoreRelatedEssay on Drones: Unmanned Aerial Vehicles3207 Words   |  13 Pages Like much of today’s technology, Unmanned Aerial Vehicles attribute their creation to the military. 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