Tay-Sachs Disease Essays - Lipid Storage Disorders, Rare Diseases

Tay-Sachs Disease Essays - Lipid Storage Disorders, Rare Diseases Tay-Sachs Disease Tay-Sachs disease is a fatal, genetic disorder of the nervous system. There is no treatment. Tay-Sachs was first identified in the 1880's by two physicians. Dr. Bernard Sachs of the United States has found a "cherry-red" spot in the eyes of a patient. That patient later died. After searching medical literature, he found Warren Tay of great Britain had also reported this (Information, 1994). The symptoms of Tay-Sachs disease appear after about six months. At first, the patient has an over-exaggerated "startled" reaction to sounds and begins to loose control of its head. Eventually, it cannot roll over or sit without help. Dementia (uncontrolled laughter) may set in and the head grows abnormally large. The baby then becomes blind, and dies, usually before its 5th year (Seely et al, 1992). Tay-Sachs disease is an autosomal, recessive disorder caused by a deficiency in B-hexosaminidase A. Being an autosomal recessive disease, Tay-Sachs can only be passed on in its fatal form if both parents are heterozygous for the disease. If both parents are heterozygous for Tay-Sachs, there is a one in four chance of the infant having the disease. If only one parent is heterozygous, the infant has a one in two chance of being a carrier (heterozygous) for the disease(Mahany et al, 1994). In 1962, researchers found B-hexosaminidase A is responsible for the breakdown of ganglioside (gm2) in nerve cells. Ganglioside is a lipid found in modest levels in nerve cell membranes. It is constantly being synthesized and broken down. Without the B-hexosaminidase A to break down the gm2, the cells swell up and eventually burst( Diamond, 1991). B-hexosaminidase A is composed of two amino acid chains, the alpha and the beta chain(Navon et al, 1989). The gene responsible for the manufacture of B-hexosaminidase A was originally thought to be located on chromosome 7(Gilbert et al, 1975). It was later determined that the gene for the alpha chain is located on chromosome 15, and the beta chain gene is located on chromosome 5( Chern et al, 1976). In 1991, with the use of a cDNA clone, it was determined the alpha chain gene is located at 15q23-q24(Nakai et al, 1991). All forms of Tay-Sachs disease are caused by mutations in the alpha chain of the enzyme(Navon et al, 1989). The alpha chain of B-hexosaminidase A is about 35 kilobases long and split into 14 exons(Proia and Soravia, 1987). There are at least thirty different mutations that cause Tay-Sachs disease. A majority of the classical (infantile) form of the disease that is found in the Ashkenazi Jewish population is caused by one of two different gene mutations( Triggs-Raine et al, 1990). The first one, Tay Sachs disease [HexA, 4-BP INS, EX11] accounts for about 70% of heterozygous carriers in the Ashkenazi population. The mutation introduces a 4-basepair insertion into exon 11, which causes a premature termination signal. This results in a deficiency of mRNA. The 4-basepair insertion causes a frameshift which makes a termination codon 9 nucleotides down from the insertion (Myerowitz and Costigan, 1988). This mutation is also prevelant in the southwest Louisiana Cajun population. In the last three decades, 8 infants from 6 unrelated families have been diagnosed with Tay-Sachs disease. With 12 heterozygous carriers in the 6 families identified, 11 were carriers of the exon 11 mutation. The other mutation was of a form of Tay-Sachs disease found in the French-Canadian populations. The second mutation is Tay-Sachs disease [HexA, IVS G-C, +1]. It is found in 20% of Ashkenazi patients and carriers. It is a G-C base substitution in the first nucleotide of intron 12. This results in defective splicing of the mRNA(Arpaia et al, 1988). Another form of Tay-Sachs disease is Adult onset Tay-Sachs [HexA, GLY269SER]. This form of Tay-Sachs is caused by an amino acid substitution in the alpha chain of the B-hexosaminidase A molecule. Glycine is substituted serine at position 269 in the HexA subunit. This is caused by a G to A substitution at the 3-prime end of exon 7 (Navon and Proia, 1989). Unlike infantile Tay-Sachs disease, Adult onset Tay-Sachs disease is not always fatal. While the former causes a rapid degeneration of the central nervous system, the latter causes a slower degeneration. This makes a normal

Maryland v. Pringle, 540 U.S. 366 (2003) Essay Example | Topics and Well Written Essays - 500 words

Maryland v. Pringle, 540 U.S. 366 (2003) - Essay Example After asking Partlow, the driver, for his registration the police recognized a roll of money in the compartment and sought to perform a consensual search before allowing them to proceed. The police seized $763 and cocaine stuffed behind the armrest of the back seat. The three acted ignorant of the drugs and money by denying ownership or knowledge of the drugs. This prompted the officers to have all the three arrested, taken to the police station and given a Miranda warning (Carmen & Walker, 2014). However, Pringle relinquished his Miranda rights confessed to own the drugs and money without the knowledge of his friends. Consequently, the trial court sentenced him for possession of cocaine for circulation. However, Pringle claimed that his arrest was illegitimate but was denied motion and had to face ten years of custody without parole. Although, the Court of Special Appeals of Maryland unanimously supported the conviction, the Court of Appeals of Maryland reversed it. The court reveal ed lack of sufficient evidence to arrest, since even Pringle did not show any sign of previous knowledge, control, or authority over the drugs and money. Firstly, the officer’s arrests did not breach the Fourth Amendment by arresting Pringle on probable cause. However, there was not proof of Pringle’s culpability beyond rational doubt. Based on the case Brinegar v. United States (1949), warrantless searches should be founded on reasonableness. The arrest was not reasonable given that speeding was the particular reason for pulling the car and not drugs and money. Consequently, a determination of the events leading to the arrest by the court led to the reversal of the decision to convict Pringle for ten years. Despite acknowledging that the money was innocuous, and not worth consideration as a determinant of probable cause, the court agreed on the existence of probable cause in facts such as driving at

Discussion Essay Example | Topics and Well Written Essays - 250 words - 81

Discussion - Essay Example This research explores the effect of competences of emotional intelligence including empathy, awareness, emotional response, and emotional control on effective delegation of tasks and authorities in the banking industry of Malaysia. This research found a relative link between competitiveness and productivity in the workplace and emotional intelligence. There is on-going debate and research work regarding the extent to which emotional intelligence sets the stage for effective leadership. Competitiveness and success of bank managers imparts the need for managers to understand their own as well as their team’s emotions, and the importance of their role in the organization. Managers need to draw a balance between their intellect and emotion. The success and growth of any industry depends upon the productivity of the workers. Study of this article leads one to the conclusion that there is a huge role of emotional intelligence of managers in the correct delegation of tasks to the right employees. Delegation of authorities to the right people for the right reasons and at the right time boosts workers’ productivity and helps the organization achieve its goals

The Myth Of Fat Free

The Myth Of Fat Free Food Essay Meat products, junk foods and dairy products often advertise that the product that they are distributing are products that are either â€Å"fat free† or with lesser fat content than the usual item sold to the public. This is a claim that could only be repudiated by thoroughly examining the product as well as knowing the proper way of computing for calories per food serving and calories per fat content mass of the food in question. An example of such computation is outlined below to prove that the computation of calories sourced from fat is erroneous in most packed food containing the â€Å"fat free† or â€Å"lesser fat claim†. Based from the computations   performed above,   it appears that Food Manufacturing Companies   have been getting away with misleading facts concerning their   products. It could never be denied that these companies   have found a way to give â€Å"healthier† food to the health conscious public. The minimal calories associated to the food they manufacture   is indeed,   Ã‚  a   testament to their unwavering   dedication in promoting a healthier lifestyle for their   consumers. However, it should also be pointed out that   it is wrong to knowingly alter the Nutritional facts   stated on the product label to deceive their consumers.   Food Manufacturing Companies should refrain from putting   false information to the product packaging caption with unsubstantiated claims concerning the product’s nutritional values.   Instead, what they should do is to put in a   claim that their product has lesser   fat ,   lesser protein , lesser sodium   or  Ã‚  Ã‚   lesser cholesterol   based calories than most of the projects being sold in the market.   This would be more accurate and factual rather   than making claims   that their   food product is 97%, 98%, 0r 96%   fat free, especially when contains   18, 19 or 22.5% fat per serving. These THE   MYTH OF FAT FREE FOOD manufacturers need to correct   these   misleading statements  Ã‚   concerning their food product   in order to be   credible in the eyes of the public. REFERENCES: Calories in Cooked Corned Beef 97% Fat Free, Extra Lean, California Style.   Retrieved   May 22, 2010, from World wide web: http:// http://caloriecount.about.com/calories-dietz-watson-cooked-corned-beef-i89411 The 98% Fat Free Turkey.   Retrieved May 22, 2010, from World wide web: http://www.fatsecret. com/. /oscar-mayer/98%25 -fat-free-turkey- lunch-meat 97% Fat Free   Hebrew National   Hotdogs and Products.   Retrieved May 22, 2010, from World wide web: http:// www.hebrewnational.com/products/hot-dog-beef-franks.jsp Fitness Truth Behind Fat-Free Labeled Foods   by   Phil Kaplan.  Ã‚   Retrieved May 22, 2010, from World wide web: http:// www.philkaplan.com/thefitnesstruth/fat-free.htm

Instructional and Behavioral Support Essay -- Education

Mrs. S. has a classroom of 22 kindergarten students; one student is a retention from last year. The classroom has an even split between boys and girls. The class has had a stable class roster since second quarter, only gaining one student, and losing two. This is unlike the other kindergarten classrooms at the school that have gained and lost many students over the past few months. Four students are on speech IEPs, and the one new student was just recently placed on an IEP for math and behavior concerns. The classroom is fairly diverse in both ability and racial makeup. While there are many Hispanic students in the class, there are also Caucasian, African American, American Indian, Korean. The classroom is comprised solely of English speaking only students. The class has some of the academically highest students in the grade, but also some of the lowest. The school itself is a Title 1 school, where all students receive free breakfast and lunch because so many students qualify for free lunch according to government standards. A few students receive food assistance to help the family get through the weekends. Mrs. S uses a color chart to help monitor her students’ behavior. Each child has a clip with his or her name written on it. Each child starts their name off on green and moves up or down the chart depending on the choices that are made throughout the day. The colors are blue for ‘excellent’, green for ‘good’, yellow for ‘warning’, orange for ‘stop and think’, and red for ‘hot lava’. At the end of the day each child has a communicator that is sent to and from home which gets marked with the end color of the day. This allows parents to see what kind of day their child had, and any quick notes from Mrs. S. This system of man... ...ications in her behavior plan, and academic expectations when needed. For the most part every child is treated the same, each held to a high level of behavioral excellence that most easily accomplish. By splitting the class into groups based on academic need each student is given instruction at his or her level. Doing formal assessments on students frequently allows her to monitor each student’s progress and take action if and when needed. Her students seem to not only do their best to please her, but also because they have become intrinsically motivated to always do the best they can, in both academics and behavior. Works Cited National Center for Learning Disabilities. (2000). Early Identification: Normal and Atypical Development. Retrieved April 4, 2012, from LD Online: http://www.ldonline.org/article/Early_Identification:_Normal_and_Atypical_Development

Personal Development Plan Essay

Section 1: So far, I have learned that the course I have taking to complete my education, is the right path me. I have also learned that I am a hard worker, and I have attainable goals to which if I remain dedicated I will attain. My hopes in doing this development plan is to list out a clear plan for myself to maintain the momentum in my educational goals. I know that a lot of what I like to accomplish within the next 5 years relies on how well I am able to accomplish this goal. I want to be realistic in this plan. I want to be able to put together attainable goals. In this plan it has to carry a certain expectations that will guide me to see where I am and any giving point in time. Because I want succeed in step towards completing my education, this plan is important to me. My Jungian Typology is INTJ â€Å"INTJs are idea people. Anything is possible; everything is negotiable. Whatever the outer circumstances, INTJs are ever perceiving inner pattern-forms and using real-world materials to operationalize them.† –Joe Butt I am very productive, whatever I set out to do in a day it will be done in a day. I am not easily distracted. I tend to be only curious in things that I need to understand. I am a mild external locus control, the variables in life affects our plans in ways that may not be easily to understand. Because of such possibilities, I believe our very best is required for whatever task we engage in so we can maximize our ability to succeed. So far I am not experiencing burnout, this is also a good reason to have a plan in place when you are pursuing goals. Even in work, we have to develop a plan to handle the challenges that we may face. I believe this is why I scored 16 on the stress test. If you have an idea how you intend to be in a giving situation, you tend to Lessing the stress level that comes with it. Section 2: OL 125: Personal Development Plan – SWOT Analysis (Milestone Two) Strengths (What do I do well?) Weaknesses (Where can I make improvements?) I am a creative person. I have an open mind, I listen to what people say. I am slow to anger, I tend to give people room to learn from their mistakes. I am brave, not because I am not afraid, I believe that what must be done has to be done. I can be overly accommodating which can compromise my wellbeing. I can be not forthcoming at times which can affect how decisions are made. I can be enabler at times also which can give the impression that I am not interested in a particular circumstances. I tend to procrastinate on things that are easy for me to do, because I know it will not take much effort. Opportunities (What kinds of things could I be doing based on my strengths?) Threats (Where could I be using my strengths and talents more productively?) I can be a writer. (novels, self-help books) I can be a teacher. I can be a motivational speaker I can be a director (corporate, business) The obstacles that I see that could prevent me from productive as I can be is the use of my time. I can also see that if I don’t continue to improve in my skill set through education I will not reach my professional goals. I have work on my procrastination over the little task. I have to trust in the process of my plans and focus on attaining the level of education that I want to have Reflection: The most interesting thing about the SWOT analysis is how simple it is to comprehend. We live out lives in parts, sometimes we never fully see how the other parts of our life affects all of our choices and action. Through SWOT analysis, we can begin to see how the parts fit. We can come up with a practical strategy to deal with our weakness and take advantage of our strength. SWOT analysis reveals that you need a plan to work right. SWOT analysis is a good strategic tool to use evaluate how we work. Quast, L (2013) Section 3: OL 125: Personal Development Plan – PEST Analysis  (Milestone Three) Factor Opportunity Threat Political 1. Taxes- I am concern about how the taxation system will affect my income. 2. Civil liberties- as governments fall all over the world and the threat of terrorist attack a growing reality in our days, I fear that my civil liberties will be affected 3. Healthcare- want to see harmonization of healthcare across America. The reluctance of the populace of the United States of America to accept the healthcare law, while there is nothing else in place to replace it, may make it difficult to harmonize healthcare across America. The increased pressure on the uninsured to get a healthcare insurance may lead to civil unrest. Economic 1. Domestic economic growth is slow and difficult to predict. 2. International economic growth is unstable and it affects our domestic economy. 3. Interest rate- the fluctuation interest rate makes it difficult to invest with confidence. Federal and State rules on taxation can improve the economy environment. If the economy growth does not improve, more people will be out of jobs and those out jobs will find it difficult to find new jobs. Socio-Cultural 1. Education-Society and culture has to continue to stress on the importance of education. 2. Terrorism- the international committee growing together to combat terrorism. 3. Lifestyle and attitude towards social culture changes I see more educated and skilled engineers on various projects that I work on. The need for tolerance in the work place is needed now more than ever without a social-cultural emphasis on education ignorance will cause many problems in the work place. Technological 1. Emerging technology- the Impact of emerging technology on daily business activities is increasing. 2. Outsourcing- globalization labor cost is catching up to domestic labor cost. 3. Economic Variable- The growth of technology is affecting the predictable pattern of global economic growth. Emerging technology is the foundation of the next technological boom. The pattern of sustainable growth in the technology sector may stall because of lack of skill labor force to guide its growth. Reflection: I see that by making effective use of PEST Analysis, one can ensure that whatever they are doing will be aligned positively with the agents of change that affect the global community. By paying attention and taking advantage of the observed changes, one can maximize the possibilities of being successful than if your activities oppose it. Section 4: Fill out the chart below with the three practical goals you have developed during this course: Goals Action Steps Potential Obstacles Plan to Overcome Try to attend class consistently. Create days and time to accomplish reading assignments then post on the discussion board early enough to get some feedbacks. Work schedule and obligation may interfere. Set a day to finish reading assignment and post in the discussion board. Work on one weak area from the assessment test. Pay attention to the areas in my leadership that may need a conscious effort to develop. Not every scenario from work allows me to implement the things I have learned. Be patient and wait for the opportunity to put in practice the improvement that I have learned. Apply myself to becoming a better manager. As an IT manager, there are so many crisis that sometimes you develop a routine of jumping in to help instead of letting the team leads to do their job. Some issue may be kept from me until it is too late to do something  about it. Trust in those who are put in place to lead, and allow them to do their job. Final Reflection: This plan will work because it is part of the basic principles that makes one a good student or a manager. It will show in my leadership, and those who are affected by my decisions will see me in a better light. It would also prove to me that making a decision to continue my education despite the success I now enjoy from professional career, has not been a waste of time.

Understanding redwood history and biology