Noonan Syndrome

Noonan Syndrome Nicole Mitchell Dr. Hendricks Principles of Biology 1114 April 19, 2013 Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, and bleeding difficulties. Noonan syndrome affects a good percent of the world and may happen to anyone. Noonan syndrome has many key symptoms and very few certain treatment options.Noonan syndrome used to be referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features of Noonan disorder include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problem s, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge.The syndrome is named after Dr. Jacqueline Noonan. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway deregulation. Noonan syndrome is a relatively common genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 births. If someone knows enough about this disorder, they may be able to spot them out. However, people who have Noonan syndrome have problems not only on the outside but mainly on the inside. Noonan patients have to battle a lot mainly when it comes to their heart.Cardiomyopathy is more than fifty percent of the problem and the main reason of death. To explain for a moment, Cardiomyopathy can cause heart failure and sudden cardiac death. Not only do they have to worry about cardiomyopathy, they have atrial septal defect (ASD). ASD only appears i n ten percent or less of Noonan patients and may be so small it will not affect the patient to an extreme level. To elaborate, ASD allows oxygen to get to the tissues, organs, and to each side of the heart. Not only does Noonan disorder have problems in the cardio area, but also in the gastrointestinal system.Infants up to adults may have problems with their appetite, digestive issues, forceful vomiting, and difficulties swallowing. Considering normal people eat through their mouth, it can be very hard or unpleasant for a child with Noonan syndrome to eat and not only eat but to keep it down. Another big issue with Noonan patients are they tend to have a hematologic symptoms like easy bruising, blood clotting disorders, and partial deficiency of Factor VIII:C, XI:C, and XII:C. Not only do I feel bad for the patient themselves, but whoever has to take care of them.Since no one has x-ray vision except for Superman, it comes in handy to know the external signs of Noonan Syndrome. Noona n syndrome sounds like a few disorders combined. Their body stature and posture is very unmannered. They normally have a short stature, cervical neck or spine, scoliosis, a depression or outward breast bone, and a very low muscle tone. Their head usually has excess skin on the back of the neck, a low hairline in the back and high hair line in the front. Their heads are usually large and triangular shaped. They have a short and/or webbed neck.Their eyes are unusually very wide and their eyelids droop excess fully. Over ninety percent has low set ears, backward rotated ears, thick outer rim of the ear and sometimes incomplete ear folds. They have a deeply grooved top lip line and their fingers are bluntly ended, sometimes extra padded (on toes as well), and may have poor tongue control. Sometimes we do not even notice most of these body parts, but now that people know they often look. Treatment of the symptoms and complications that occur with Noonan syndrome depends on their type and severity.Many of the health and physical issues associated with this syndrome are treated just the way they are in the general population. The heart will be treated with certain drugs and surgery may be necessary. Since there are no many different factors with Noonan syndrome children are checked multiple times a year. Family doctors or the doctors of the parents choosing focus on the blood chemistry, thyroid function, bone growth and hormone levels. If a child's growth hormone levels are insufficient, growth hormone therapy may be a treatment option.For the other factors like learning disabilities, vision care, and etc. , they are treated like every other special child and normal child. If the child does, and most likely will, have a learning disability then if caught early on doctors can find certain centers that teach on speech and the learning process. When you look up or study these genetic disorders, you learn that most of them are really not so rare. I have heard about Noona n Syndrome before but I never knew how common it was. I only learned that it is a very unique disorder and sounds very much like Turner’s syndrome.It makes me sad to believe that parents have to suffer so much through all of these treatments and never knowing really what they can do. They may wake up one morning and their child has gone into cardiac arrest. It’s a sad disorder and there is no treatment for the Noonan syndrome itself, but only what they can do for anyone else. Not saying that the medicine today is not good enough, but maybe not fast enough or efficient enough for a child or adult who has so many more problems to deal with. I can only imagine that they person will be required to take a minimum of fifteen pills a day depending on how many symptoms they have.Noonan syndrome is a terrible genetic disorder that affects both the inside and outside of every patient. It is a roller coaster ride of a life and never know what will or may happen once the child or adult falls asleep. It is common everywhere in the world and happens between one thousand and two thousand five hundred children a year. Even though it is very similar to Turners Syndrome, this happens in both males and females. Most children with the disorder look alike and have most of the same symptoms. It is unlikely to have other symptoms, but with this genetic disorder anything is possible.Signs or symptoms increase all of the time and there is no set guideline for the things that may occur. Work Citied Romano, A. , MDA, and Allanson, J. , MDb. â€Å"Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines. † Google Scholar. 27 September , 2010. Pediatrics Vol. 126 No. 4 p. 746 -759. Web. 12 April , 2013. http://pediatrics. aappublications. org/content/126/4/746. full. Lisbona, P. and Moreno, M. â€Å"Noonan Syndrome† Google Scholar. March 2009 vol. 18 no. 3 p. 267-269. Web. 09 April, 2013. http://lup. sagepub. com/content/18/3/267. abstract. Pedi atr, C. Noonan Syndrome: An Update and Review for the Primary Pediatrician. † Google Scholar. September 1994 33:p. 548-555. Web. 12 April, 2013. http://cpj. sagepub. com/content/33/9/548. full. pdf+html Connor, W. and Noonan J. â€Å"Noonan syndrome: A clinical description emphasizing the cardiac findings. † Wiley Online Library. 19 JAN 2011. Japan Pediatric Society. Web. 10 April, 2013. http://onlinelibrary. wiley. com/doi/10. 1111/j. 1442-200X. 1996. tb03443. x/abstract. Baraitser, M. and Patton, M. â€Å"A Noonan-like short stature syndrome with sparse hair. † Journal of Medical Genetics. 23:2. Web. 08 April, 2013.

Information Systems in Scm and Erp Essay

2.1.Introduction With the variety of requirements for information within businesses, most businesses tend to have several information systems operating at the same time. Executives require information to plan for the future, middle management require information to monitor and control whilst employees require information to help them carry out their duties. In this essay we look at information systems in supply chain management and enterprise resource management. 2.2.Discussion There are various types of information systems, these include office automation systems, transactional processing systems, decision support systems, management information systems and knowledge management systems. In identifying the use of information systems in enterprise resource planning and supply chain management, we first have to understand what these represent. 2.2.1Review of Information Systems, ERP and SCM Information systems are an integrated set of components for collecting, storing, processing and communicating information. Organisations rely on information systems to manage their operations and compete in the marketplace effectively and efficiently. Information systems rely on three key resources i.e. technology, people and information. Bocij et al. (2008) describe enterprise resource planning (ERP) as systems that provide a single solution with integrated functions and a unified database for major business functions across the value chain for example: finance, sales, distribution, marketing and human resource management. ERP systems enable efficient planning, managing, and controlling of all core business processes across multiple locations. According to Bocij et al.(2008) supply chain management (SCM) consists of a series of activities that moves material from suppliers through operations to customers. SCM enables more efficient management of the supply chain by integrating the l inks in a supply chain; which may include suppliers, manufacturer, wholesalers, retailers and final customers. 2.2.2Information Systems in Supply Chain Management Information systems are critical to a supply chain management. They automate simple and complex tasks and provide management with reports concerning logistics. Information systems in supply chain management analyse the flow of products and provide information and status on items, determine profitability and the most effective way to manage inventory. The information system enables the retailer to identify inventory levels, inventory turnover rates while identifying usable warehouse space. Information systems are used to optimize the logistical process such as receiving, storage and distribution. The role of an information system is to collect raw data for transaction processing. Through specialized reporting and enquiries, the system produces reports to assist management to make decisions which impact operations. Compiled data is used to determine strategies which impact inventory costs, distribution costs and product cycles. Added benefits of information systems in supply change management include the ability for customers to track the delivery of an item with an assigned tracking number; and management of inventory based expiry dates or no sell by dates i.e. last in, first out or first in, first out (Unknown). 2.2.3Information Systems in Enterprise Resource Planning Enterprise Resource Planning (ERP) systems refer to the software packages that integrate all the data and the related processes of an organisation into a unified Information System. It is designed to facilitate the administration and optimisation of internal business processes across an enterprise. ERP is used extensively by larger retail chains as a competitive tool for efficiency. ERP software uses a single database that allows different departments to communicate with each other through information sharing. ERP systems serve an important function by integrating separate business functions such as material management, product planning, sales, distribution, finance and HR, into a single application. Hyperone would benefit from an integrated infrastructure which continuously monitors and dispatches the necessary information of the flow of goods from supplier to cash register. Flexible, process efficient and reliable information are critical to retail business and ERP packages have been introduced to tackle IT complexity. Some ERP retail solutions include critical functions like inventory tracking, ordering and replenishment, loss prevention and task management. ERP systems help in the decision making process such as formulating pricing strategies, merchandising planning, inventory optimisation and store execution. They also help in managing workflow through automation which enables management to monitor and control inefficiencies in processes (unknown:2011) The key components of a retail ERP system include: * Merchandise management which includes activities such as the setting up, maintenance and management of the retail outlet, keeping track of the prices of the items, inventory, and the different vendors etc., facilitating a more efficient retail option. * Retail planning which enables retailers to plan activities at a large and small scale, factoring in economies of scale to achieve desired efficiencies. * Supply chain planning and execution enables a retailer to run the business more efficiently by closely monitoring and managing their supply chains. However, it must be noted that most ERP systems need to integrate with other systems such as management information systems (MIS), business intelligence (BI) or data mining tools in order to extract, analyse and construct data into readable information. 2.3.Conclusion Information systems are integral to enterprise resource planning and supply chain management for the effective management of information across all functions of the business. Both supply chain management and enterprise resources planning systems comprise of transactional processing systems and with integrated management information systems they provide crucial information in a timely manner.

How to Grow Your Own Quartz Crystals

Quartz crystals are silicon dioxide, SiO2. Pure quartz crystals are colorless, but impurities in the structure lead to beautifully colored gems, including amethyst, rose quartz, and citrine. Most natural quartz crystallizes from magma or precipitates from hot hydrothermal veins. Although man-made quartz is produced, the process requires heat not generally possible in a home setting. Its not a crystal most people want to try to grow at home  since perfect crystals require  specialized equipment. Synthesized quartz is made using the hydrothermal process in an autoclave. You probably dont have one of those in your kitchen, but you may have a smaller equivalent--a pressure cooker. Growing Crystals With a Pressure Cooker If you are truly determined to grow quartz crystals at home, you can grow small crystals by heating silicic acid in a pressure cooker. Silicic acid can be made by reacting quartz with water or by  acidification of sodium silicate in aqueous solution. The main problem with either technique is that silicic acid has a tendency to turn into silica gel. However, it is possible to synthesize quartz crystals with a pressure cooker. In 1845, the German geologist Karl Emil von Schafhà ¤utl succeeded in making quartz the first crystal grown by hydrothermal synthesis. Modern techniques can be used to grow large single crystals, but you shouldnt expect fabulous gems from a home canning system. Similar Alternatives Fortunately, there are similar-looking crystals you can grow at home. One rather spectacular option is to make a fulgurite, which is the glassy shape made by a lightning strike or other electrical discharge into sand. If youre seeking a large colorless crystal to grow, try alum crystals.

Societys View of Women in Media and Sports - 1470 Words

â€Å"To begrudge folks of their opinion of these women is useless. Beauty is entirely subjective, a matter truly in the eye of the beholder,† (Source 1). The media is infamous for how it views individuals. Television shows such as TMZ and Extra exist for the sole purpose of not only stalking, but also ridiculing celebrities regardless of whether or not they planned to be in the limelight. If Jennifer Lawrence appears gorgeous in her red carpet gown, she is praised; if she is caught with a slice of pizza in her mouth she is viewed by the same people as a slob. The media treats its precious celebrities like dogs, rewarding them or scolding them for their behaviors. This attitude is not reserved for celebrities, as it also affects the common, non-famous people—men and women both—and emerged in the Roaring 20s. Before the cultural transformation of that era, women fit the image of the so-called Gibson Girl. The Gibson Girl was extremely feminine and beautiful with l ong, flowing, thick hair, modest yet elegant outfits, and wide birthing hips. When companies started to yearn for more money, advertisement agencies began to develop ads that featured skinny girls with the body of twelve-year-old boys, and short hair to promote different hair products. This allowed companies to charge the same amount of money for a smaller amount of fabric. Thus emerged the â€Å"Flapper† of the 1920s—a truly new breed of woman whose new appearances matched their new attitudes. These women would drink andShow MoreRelatedDisability Sports : Disabled Disabilities1673 Words   |  7 PagesDisability sports was initially created to help rehabilitate war veterans, since then it has become extremely popular and occurs across the globe. Historically, disability sports has not received very much attention, the problem is that we don’t have enough organized programs for the younger generations. 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Multiculturism - 1524 Words

Multiculturism is a philosophy which appreciates ethnic diversity within a society and that encourages people to learn from the contribution of those of diverse ethnic backgrounds. Though culture is seen as ‘‘a richly rewarding area to pursue,’’ it is none- theless ‘‘a woefully complex maddeningly dynamic phenomenon’’ (Faure Rubin, 1993, p. 228)(5). â€Å"Unity in diversity† is the perfect principle based on which any organisation succeeds. It is known fact that employees from various cultures contribute more effectively to organisations success than organisation working with single culture employees. But the authors of the article â€Å"Managing Multicultural Teams† (henceforth referred as core article) are of the opinion that cultural†¦show more content†¦This factor can be evaluated more on the research conducted by Prof. Terence. With the above mentioned challenges it is clear that multicultural teams if not managed properly can often produce management dilemmas. A multicultural team is like a fruit salad bowl in which if a single bad fruit spoils all other fruits eventually in that bowl. If corrective actions are taken at right time the same multicultural team can come up with great outputs. The author of core article describe that the manager can utilise these corrective measures by implementing to 4 different strategies – Adaptation, Structural Intervention, Managerial Intervention and Exit. The above strategies can be explained by a real life example. This example illustrates how efficiently managers can manage multicultural teams. Couple of years back I had worked on offshore platforms for six months. They were owned by Oil and Natural Gas Company (ONGC) in India. There are around 22-23 oil and gas exploration platform under â€Å"Bombay High† sector. Though the onshore management is almost Indian, offshore sites have a great mix of people from different cultures. 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This ritual was ongoing until her death in 1992. It is sad because no one has been inspired to keep the tradition going in the family. I had a lot of different values and beliefs instilled in me as child. I was raised in a multiculturism environment. My worldview was to respect all cultures and their beliefs. I was aware that racism did exist as a child. I was observant to many incidents that my brothers experience with police brutality. My older brother experience racismRead MoreCultural Literacy According to E.D. Hirsch95 8 Words   |  4 Pagesthis way that Hirsch argues those in opposition of cultural literacy. Many opponents question Hirschs view by questioning who would decide this common body of knowledge for everyone. People debate what is includedin the list on the basis of multiculturism. They ask, is the knowledge equally important to every citizen of the United States no matter what race, gender or religion? 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Commercial and Corporation Law Merchandising and Commerce

Question: Discuss about theCommercial and Corporation Lawfor Merchandising and Commerce. Answer: Introduction The law on commercial and corporation is at times reffered to as business law. This is because it is the body that pertain matters related to law and makes a direct implication to the rights and conduct of a person within the business domain[1]. On the same light, the business aspect that has been provided in the previous sentence is attached to matters of merchandising, commerce, trade and also sale. This is just a general overview of the subject. Discussion as to why Australia is one of the few jurisdictions where auditing standards have the force of law Coming into the specifics according to the question rubric, it is true that Australia as a nation is one of the few jurisdictions where there has been a realization of standards of auditing having the force of law[2]. Therefore, this task is mainly going to offer justifications as to why the nation in question is one of the few jurisdictions where the already mentioned standards in the previous sentence have the force of law. The justifications in context will also be supported by the corporation Act of 2001, which is amongst the major and most vital Acts of parliament. Australia is therefore one few jurisdiction where auditing standards have the force of law because it clearly offer a provision on a clear public interest focus. Many a times auditing standards in a number of states do not enjoy the force of law and it has been argued by most scholars that this might be the reason why focus on public interest is ignored in those states. Australia on the other hand, being one of the jurisdiction that values the interest of the public or rather its citizens, has to align the auditing standards with the force of law[3]. Other than the mentioned, the other point that can be used to offer justification with regards to the subject is that, the subject country is aiming at giving quality to the auditing standards and processes. Remember the law is like the government of the day, and thus, acts as a check on the quality of the auditing standards provided. Australias main aim in being one of the jurisdictions with regards to the context is also on ensuring that it caters for two most vital things[4]. The two as already depicted is on ensuring that there is great focus that is laid on the interest of the public and on ensuring that the auditing standards are of great or higher quality. This is aligned to the Corporation Act of 2001 under section 336[5]. This Act is documented to have been in existence since 1st July 2006. Going forward with the explanation with regards to the subject, Australia was also one of the jurisdictions where auditing standards have the force of law, so as to restore confidence among its citizens in the field of auditing. It is not easy for one to inspire confidence even in a normal context. The same directly implies to matters pertaining auditing standards[6]. Australia therefore felt that it is important for them to inspire confidence among the general public in their auditing standards. This is the third justification that has made it feature among the few jurisdictions with regards to the context. The same is largely expounded on, in section 336 of the Corporation Act in context. That is, the 2001 Corporation Act. The fourth point that directly answers the concern of the question in context which is largely mentioned in the second paragraph of the task is to avoid cases that may lead to misinterpretations of the auditing obligations[7]. The auditing obligations are the attached to auditing policies and mandates that if wrongly misinterpreted can compromise the quality of the audit as well as the state of the nation in the peoples mind. It is in this context that I peg my reasoning that, the subject state is one of the jurisdiction aligned to force of law in order to cultivate seriousness that may lead to proper interpretation of the auditing obligations. The final justification as to why Australia is one of the few jurisdictions with the view of the context can be widely explored with an explanation of the states desire to make a demonstration to the investment community and the profession in context. The government had to Act by aligning it to the force of law in order to appraise the profession that comes out of auditing standards. It is important to note that all the justifications that have been provided with regards to the question in context are mainly discussed with reference to the Act of parliament and the Corporation Act of 2001. There was a section that was depicted earlier in the explanation of how the Act in context justifies why Australia is what it is. In addition to the already mentioned section of the Corporation Act of 2001, there is also section 307A under the same Act that supports the subject of discussion. They mainly conform to the concept that, for auditing standards to be upheld and given keen consideration, there must be force of law that has to be aligned with it. This may also act as a legality procedure. It is the only way that the auditing standards will be able to serve its purpose well without having any technicalities. As mentioned in the early paragraphs, these standards are vital and influence almost everybody within the nation of Australia. That is also the main reason why key players in this particular context include even the general public. Conclusion In conclusion, it is clear that the concern of Australia being among the few jurisdictions where the standards of auditing have the force of law has been thoroughly addressed with a number of justifications being brought on board to cement the factual information in context. Some of the justifications provided includes, restoration of public confidence, laying focus on public interest, ensuring quality on the auditing among others. These justifications have been provided with elaborate well explained information, that is in conjunction with the Corporation Act of 2001 under section 336 and 307 A. Bibliography Brown, P. and Tarca, A., 2011. Politics, processes and the future of Australian accounting standards. Abacus, 37(3), pp.267-296. Brown, P., 2011. International Financial Reporting Standards: what are the benefits?. Accounting and business research, 41(3), pp.269-285. Chalmers, K., Godfrey, J.M. and Lynch, B., 2012. Regulatory theory insights into the past, present and future of general purpose water accounting standard setting. Accounting, Auditing Accountability Journal, 25(6), pp.1001-1024. Chand, P. and Patel, C., 2008. Convergence and harmonization of accounting standards in the South Pacific region. Advances in Accounting, 24(1), pp.83-92. Guthrie, J.E. and Parker, L.D., 2009. A quarter of a century of performance auditing in the Australian federal public sector: A malleable masque. Abacus, 35(3), pp.302-332. Hope, O.K., Jin, J. and Kang, T., 2006. Empirical evidence on jurisdictions that adopt IFRS. Journal of international accounting research, 5(2), pp.1-20. Robins, F., 2006. Corporate governance after Sarbanes-Oxley: an Australian perspective. Corporate Governance: The international journal of business in society, 6(1), pp.34-48. Zeff, S.A. and Nobes, C.W., 2010. Commentary: Has Australia (or Any Other Jurisdiction)AdoptedIFRS? 1. Australian Accounting Review, 20(2), pp.178-184.

Large number of public wells in The U.S. Essays -

Findings showed that naturally occurring contaminants, such as radon and arsenic, accounted for about three-quarters of contaminant concentrations greater than human-health benchmarks in untreated source water. Naturally occurring contaminants are mostly derived from the natural geologic materials that make up the aquifers from which well water is withdrawn. Man-made contaminants were also found in untreated water sampled from the public wells, including herbicides, insecticides, solvents, disinfection by-products, nitrate, and gasoline chemicals. Man-made contaminants accounted for about one-quarter of contaminant concentrations greater than human-health benchmarks, but were detected in 64 percent of the samples, predominantly in samples from unconfined aquifers. "Detections of contaminants do not necessarily indicate a concern for human health because USGS analytical methods can detect many contaminants at concentrations that are 100-fold to 1,000-fold lower than human-health benchmarks," said lead scientist Patricia Toccalino. "Assessing contaminants in these small amounts helps to track emerging issues in our water resources and to identify contaminants that may warrant inclusion in future monitoring." Scientists tested water samples for 337 properties and chemical contaminants, including nutrients, radionuclides, trace elements, pesticides, solvents, gasoline hydrocarbons, disinfection by-products and manufacturing additives. This study did not assess pharmaceuticals or hormones. Most (279) of the contaminants analyzed in this study are not federally regulated in finished drinking water under the Safe Drinking Water Act. The USGS also sampled paired source and finished (treated) water from a smaller subset of 94 public wells. Findings showed that many man-made organic contaminants detected in source water generally were detected in finished water at similar concentrations. Organic contaminants detected in both treated and source water typically were detected at concentrations well below human-health benchmarks, however. Additionally, the study shows that contaminants found in public wells usually co-occurred with other contaminants as mixtures. Mixtures can be a concern because the total combined toxicity of contaminants in water may be greater than that of any single contaminant. Mixtures of contaminants with concentrations approaching benchmarks were found in 84 percent of wells, but mixtures of contaminants above health benchmarks were found less frequently, in 4 percent of wells. This USGS study identifies which contaminant mixtures may be of most concern in groundwater used for public-water supply and can help human-health researchers to target and prioritize toxicity assessments of contaminant mixtures. The USGS report identifies the need for continued research because relatively little is known about the potential health effects of most mixtures of contaminants. Wells included in this study are located in 41 states and withdraw water from parts of 30 regionally extensive aquifers, which constitute about one-half of the principal aquifers used for water supply in the United States. Human-health benchmarks used in this study include U.S. Environmental Protection Agency Maximum Contaminant Levels for regulated contaminants and USGS Health-Based Screening Levels for unregulated contaminants, which are non-enforceable guidelines developed by the USGS in collaboration with the EPA and other water partners. Treated drinking water from public wells is regulated under the Safe Drinking Water Act. Water utilities, however, are not required to treat water for unregulated contaminants. The EPA uses USGS information on the occurrence of unregulated contaminants to identify contaminants that may require drinking-water regulation in the future.