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Tuberous Sclerosis Complex (TSC)

Tuberous Sclerosis Complex (TSC) Free Online Research Papers A French physician more than 100 years ago first identified a disorder-once known as epiloia or Bourneville’s disease. Today it’s known as Tuberous sclerosis also called tuberous sclerosis complex (TSC). TSC is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as kidneys, heart, eyes, lungs , and the skin. It commonly affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease. I will look at the following: 1. Clinical manifestations 2. Diagnostic 3. Genetics of TSC 4. Signs and symptoms 5. Psychopharmacology in children with TS The manifestation of TSC is a disease that affects multiple organs such as skin, kidneys, brain, heart, eyes, lungs, teeth as well as other organ systems. However in most individuals the disease affects only some of the organs. TSC may present at birth, but signs of the disorder may take some time to develop. At least two children born each year will have TSC. Current estimates place TSC affected births at one in 6,000, nearly 1 million people worldwide and, approximately 50,000 in the Untied States. As a result, TSC is frequently unrecognized and misdiagnosed for years. The severity of TSC can range from mild skin abnormalities to, in severe cases, mental retardation and renal failure. Many TSC manifestations also develop later in life. Most individuals who are mildly affected lead active and productive lives. TSC is a life long disease and individuals should receive continuous follow-up care. In most cases the first clue to recognizing TSC is the presence of seizures or delayed development. In other cases the first sign might be white patched on the skin. Careful clinical exam in combination with CT or MRI of the brain may show tubers in the brain, and an ultra sound of the heart, liver, kidney scan show tumors there In July 1998 the Tuberous Sclerosis Alliance, convened a consensus conference of international experts to review the literature and the status of knowledge and research about TSC. One of the consensus panels developed a revised scheme for the TSC diagnostic criteria based on new clinical and molecular genetic studies. The new diagnostic criteria eliminated any single finding as specifically distinctive or characteristic of the disorder. Cortical tubers were believed to be pathognomonic of TSC. Evidence now suggests that radio graphic brain imaging and histologic studies are unable to distinguish these tubers from isolated cortical dysplasia. Subependymal giant cell astrocytomas and subependymal nodules can be distinguished from cortical tubers and from each other. The two subependymal lesions have a histologic and radiographic appearance that differs from the cortical tuber, whereas the giant cell astrocytomas is the only on that tends to enlarge. An important tool in diagnosing is its dermatologic manifestation, which comprises four major and one minor feature of TSC. Hypomelanotic macules are considered a new grouping, whereas the histologically similar forehead plaque, facial angiofibroma, and renal or other retinal hamartomas, are considered to major features used in diagnosis. Liver, spleen, rectal, or other lesions preferably Histologically confirmed hamartomatous lesions constitute minor features. TSC is caused by defects, or mutations, on two genes-TSC1 and TSC2. Only one gene needs to be affected for TSC to be present. The TSC1 gene is on chromosome 9 and produces a protein called hamartin. The TSC2 gene is on chromosome 16 and produces the protein tuberin. Scientists believe these proteins act as tumor growth suppressors, agents that regulate cell proliferation. Some individuals may inherit the disorder from a parent; most cases occur as spontaneous mutations. In other cases, TSC is an autosomal dominates disorder. Which means only one parent needs to have the gene, and each child has a 50% chance of developing the disorder. Some individuals acquire TSC through gonadal mosaicism. Approximately 33%, or 1/3, of the people with TSC inherits it from a parent who has it. Signs of discovery vary depending on which system and which organs are involved. Kidney problems such as cysts and angioyolipomas occur in an estimated 40 to 80 percent of individuals with TSC, usually occurring between ages 20 and 30. Three types of tumors are associated with TSC: cortical tubers, generally form on the surface of the brain, but may also appear in deep areas of the brain; subependymal nodules, which form in the walls of the ventricles the fluid filled cavities of the brain; giant-cell astrocytomas, a type of tumor that can grow and block the flow of fluids within the brain. Cardiac rhabdomyomas are tumors found in the heart of infants and young children. Phakomas are benign tumors found in the eyes, appearing as white patches on the retina. A wide variety of skin abnormalities can occur such as: hypomelanic macules, which are white or lighter patches of skin appearing anywhere; facial angiofibromas also called adenoma sebaceum, which appear on the face and consist of blood vessels and fibrous tissue; forehead plaques, which are common; shagreen patches, usually found on the lower back or the neck; ungula or subungual fibromas that grow around the toenails and fingernails. It’s known that children with TS are a higher risk for several different behavioral problems. The most sever is probably autistic disorder, which usually starts by 36 months and often succeeds early onset seizures. In the preschool years another problem that arises is attention-deficit/hyperactivity disorder (ADHD). During adolescence depression, anxiety appears as they try to deal with new demands of maturing and continuing difficulties of chronic medical problems. If medications are given to treat behavioral problems, parents need to be aware of the effects they will have in a child who may have cardiac rhabdomyomas, renal angiomyoplomas or polycystic kidneys, cortical tubers, subependymal nodules. The child with rhabdomyomy may have disturbance in the cardiac rhyme including increased heart rate, complete heart block, junctional ectopic beats, and Wolf-Parkinson-White syndrome. With seizures certain drugs can lower the threshold leading to new seizures; breakthrough of se izures in a child who had controlled; or an increased number of seizures in a child with chronic epilepsy. Renal damage from medication is not likely in most drugs used for behavior. Topiramate has caused renal stones in 1-2% of patients. Lithium and carbamazepine can cause a change in the ability of the kidney to concentrate urine. As in other medical problems it is always best to reach what you are taking before taking it. There is no cure TSC, although there are a number of treatments for the symptoms. Because TSC is a life long condition, individuals need to regularly monitor by a doctor the best treatments possible. I think children probably suffer the most having to grow up with chronic medical condition with other kids always making fun of you has to really tough on them. However these types of kids are very loving and don’t take much for granted not much of a pay off, but a good one. With the right medication and treatment plans people with TSC might be able to live comfortably. Research is being done to understand the disorder by learning more the TSC1 and the TSC2 genes and the function of the proteins –tuberin and hamartin produced by these genes. Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new avenues of treatment, methods of prevention, and ultimately a cure. tsalliance.org http;//www.ninds.nih.gov rare disease.org Tuberous Sclerosis Alliance fact sheet Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5. Review. No abstract available. PubMed citation Lewis JC, Thomas HV, Murphy KC, Sampson JR. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet. 2004 Mar;41(3):203-7. No abstract available. PubMed citation Maria BL, Deidrick KM, Roach ES, Gutmann DH. Tuberous sclerosis complex: pathogenesis, diagnosis, strategies, therapies, and future research directions. J Child Neurol. 2004 Sep;19(9):632-42. No abstract available. PubMed citation Narayanan V. Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol. 2003 Nov;29(5):404-9. Review. PubMed citation Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):643-9. Review. PubMed citation Rose VM. Neurocutaneous syndromes. Mo Med. 2004 Mar-Apr;101(2):112-6. Review. 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Foreign Market Entry and Diversification Research Paper - 2

Foreign Market Entry and Diversification - Research Paper Example However, the issues that will remain unchanged are the functioning and control techniques including the ability of the institution to have better consumer associations and sales force. Through working upon the plans of foreign market expansion, a Coca-Cola institution may have benefits and be advantageous in many differentiated ways. A product line of particular type established by the organization can aid the enterprise in lowering the threat. It may achieve experience two different technologies, and establish the economies of scale. It shall satisfy the powerful desire to diversify the brand of the organization into a few extra fields of items, and will aid in achieving the profitable development (Karami, 2007). Diversification strategy Corporate administration’s initial course of action must be an analysis of if any opponent exists for enhancing its present enterprise functioning. The company wants to diversify DASANI, which is bottled water produced by Coca-Cola. The organ ization initially takes into account if it would achieve greater market share with its present items in their current markets (Neelankavil & Rai, 2009). This is known as the market penetration plan. After that, the organization takes into account where it can discover or establish new markets for its present commodities. This is the market growth strategy. Lastly, Coca-Cola will assess if it may establish new commodities for new markets. This is termed as the expansion strategy. The markets which Coca-Cola trades its commodities include in the United States and in the home market as well. The company has attained huge prosperity for the past years it has been in operation. However, the company feels there is a need for further expansion to reap more benefits. The Coca-Cola Company started to establish new commodity which will be used in the diversification process and which is the DASANI bottled water. DASANI at first got satisfaction outcomes when it first entered the United States market and the company hopes the product will repeat the same results when they decide to expand into new markets. Therefore, for the company to diversify its new commodity market and enhance its global competitiveness, it started to expand DASANI into a new market, which is in the United Kingdom. This expansion will increase the sales volume of DASANI; hence the increase in profitability of the company (Terpstra, Sarathy, & Foley, 2012). Market entry strategies Product positioning strategy This strategy is important for an organization to venture into a new market. The positioning strategy provides the organization with the best alternative to take to place the product, and at what price should it be sold at in the market for consumers to be able to access and buy it. Individuals in the United Kingdom are searching for greater quality water to drink. This calls for the Coca-Cola organization to commit extra resources to produce a high quality product that fulfills the consumer nee ds. A greater quality product will call for heavy investment in the production process and this as well calls for the products to reflect the cost of production. The differentiation strategy and the brand management strategy have as well to be applied in the product positioning strategy to achieve better and attractive results. Therefore, for

Leading Essay Example | Topics and Well Written Essays - 1250 words

Leading - Essay Example He has managed to drive Facebook to attaining great possibilities through exceptional styles, skills, and expertise in management. According to Gallo (2012), Zuckerberg keeps the Facebook website clear and simple. It provides a user-friendly platform for social networking. Samson (2013) refers to Zuckerberg as a leader who owns the product he promotes because of the inherent passion for which he conducts his managerial affairs. The love for his products saw him deny offers to sell the Facebook account. For instance, Zuckerberg identifies thoughtful potential in his products. The initial purpose for the innovation of Facebook was to connect people (Gallo, 2012). According to Samson (2013), Zuckerberg had an insight of the path Facebook would take. The future of Facebook became his obsession. Passion to achieve his goal has seen the website progressive improvement. According to Walter (2014), Zuckerberg has a fascination about making the world more open. The state of Facebook in the world and the power of its influence in various aspects of life currently resulted from Zuckerberg’s effort courtesy of passion to his mission (Samson, 2013). Facebook mission has remained consistent over the years since its start (Walker, 2014). This has concentrated efforts towards improvisation of social networking systems. According to Gallo (2012), Zuckerberg believes in being a great leader and communicator. He puts efforts to improve his communication skills as a way to improve his persuasive leadership in the company. According to Marshall (2009), Zuckerberg underwent through a training in speaking to improve his communication skills. Zuckerberg has an inclination to interact with people to improve his leadership qualities. Marshall (2009) accounts for the structural positioning of Zuckerberg’s office in the new building of the company. The centric positioning of his office with offices of other leaders surrounding his

Suicide Rates Statistics Analysis In India Sociology Essay

Suicide Rates Statistics Analysis In India Sociology Essay World Health Organization Assistant Director-General Catherine Le Gals-Camus finds that more people around the world die from suicide than other causes. 1. According to Dr Anuradha Bose, associate professor in pediatrics who also works for the CMCs department of community health, suicide is the third largest single cause of death among Indian youth between the ages of 15-19. One in every three cases of suicide in India is committed by people due to academic pressure. 2. A suicide is reported in India every 15 minutes and it is believed that there are many more cases of suicides that are not reported, so the actual number is very high. 3. Kerala, the state with the highest literacy rate in all of India also has the highest suicide rate which is an alarming factor for academic pressure. 4. The average suicide rate in India is 103 per 100,000 people compared with the worldwide average of 14.5 suicides per 100,000 people. 6. More than 100,000 people commit suicide in India every year and 3 people a day take their own lives in Mumbai. The rate of suicide among females in India is close to three times that of males. The average rate for suicide among males in India is 58 for every 100,000 and 148 for every 100,000 women. This is contradicting to the situation in other parts of the world where the rate of suicides is high among men rather than women. Females, in contrast to males, characteristically are more open to ask for medical help and to communicate their anxieties and fears to significant others. Males tend to be acutely aware of feelings of sexual inadequacy or inadequacy of masculinity and believe it shameful to communicate such feelings. This seems to hold true for college-age males and females as well as adolescents. POSSIBLE REASONS Although the reasons for suicide in students are likely as varied as the people who commit them, there are some primary reasons for the high suicide rate in India. Here are some of the most common reasons for committing suicide in India. 1. Pressure to perform: In this modern age, from the moment the child is born, hes brought up in a very competitive fashion. They are under tremendous pressure to deliver at schools well as sports and for competitive examinations. Parents and society expect a lot from the children and the pressure to perform is high. A lot of students contemplate suicide because they could not achieve the good scores expected by their parents. 2. Family conflict, including domestic violence: India is losing the support that has traditionally come from the joint family system, as many couples now opt to live on their own, away from the rest of the family. There is less bonding and interaction with the family members and the feeling of neglect make the children feel unwanted and they get depressed. 3. Ragging: In few cases, ragging in colleges has been found reason for suicide in their first year. The emotional and humiliating treatment that the seniors give the juniors, make them want to forget everything by ending their lives. 4. Copy-Cat: Another explanation for the high teenage suicide rate was copy-cat suicides where children read about suicides in newspapers and decide to do the same thing themselves. There have been many incidents where children try to imitate suicides scenes from movies for fun and end up getting killed 5. Virtual Lifestyle: These days children are hooked to videogames and computer. The internet can be considered as boon or bane. Children have been sucked into the virtual world and they have been so addicted to it that they find it hard to live in the real world. This has led to many suicides as they have not been able to become normal again The factors responsible behind the student suicide are quite different from other suicides like found in elders. The few trends have been observed in a survey in educational institutes across in US. Out of 2402 students, 1078 (45.8%) had psychological problems, half (1201 students) perceived problems in their role as students, 930 (45%) reported academic decline, 180 (8.82%) students reported that life was a burden, 122 (6%) reported suicidal ideas and 8 (0.39%) students reported suicidal attempt. There was significant correlation between students perception of life as a burden and class they were studying, mothers working status, psychological problems and problems students experienced in relation to study, peers, future planning and with parents. Risk Factors Biological Clues: Family history of mental illness including depression, puberty, cognitive impairments, disability, chronic illness, substance abuse, anxiety, mood disorders and conduct disorder Sociological: Contagion, peer pressure, family conflicts, drug and alcohol abuse, other abuse, academic pressures; expectations of school, family and self; break-up in a relationship, interpersonal losses, legal or disciplinary issues, bullying/harassment, negative social environment, victimization experiences Psychological: Negative self-talk like Im no good or I am not worthy; poor distress tolerance, poor resiliency, poor interpersonal problem-solving, black and white thinking, previous suicide attempt Existential: failure to see the good in the world, hopelessness: Whats the point its not going to change Communication The addressing of this social problem can be divided in two types- Proactive- Raising awareness among the students community at large at not to feel depressed and communicating that suicide is not an end to problems. Reactive This communication for those who need help right at the moment. As suicide tendency is very ephemeral  tendencies quite some time. If the patient can be counseled right at the moment than suicide can be avoided. I would propose an integrated communication plan across the channels as they have different reach and richness. Before going deeper we have to select the central communication idea for the campaign. As the basic problem is depression due to some failure , the value of life should be shown in all the campaign. The central idea can be Life is to live and not to end. You can end you life, not problems. The creative brief can be framed around what the chetan bhagat has mentioned in a address to students to a university- Dont be serious, be sincere. This quote has defined my work ever since. Whether its my writing, my job, my relationships or any of my goals. I get thousands of opinions on my writing every day. There is heaps of praise, there is intense criticism. If I take it all seriously, how will I write? Or rather, how will I live?  Life is not to be taken seriously, as we are really temporary here. We are like a pre-paid card with limited validity. If we are lucky, we may last another 50 years. And 50 years is just 2,500 weekends. Do we really need to get so worked up? Its ok, bunk a few classes, goof up a few interviews, fall in love. We are people, not programmed devices. Mass communication- This can be divided further in different execution ideas- Movies: Few movies and documentary can be made which showcases the people who sometimes were depressed and thought of doing suicide have fought against the problem and become successful. The recently released film 3 idiots portrays such a character in which a brilliant student commits suicide due to failure in the exams. Textbooks:- Last page of text books can be devoted to such na motivationall stories about the people who did not do well in studies but able to make the histories in their field. People like Sachin Tendulkar , Bill gates , Mark Zukerberg who are college drop outs can be cited to make sure that text book and exams are not the end in itself. Newspapers:- The stories of committing suicide should not be given prime importance as it may promote the copycat to further to take the path. Society should not sympathize with the people who commit suicide as it gives a signal to potential person to reach that destination. Counseling: Every college should have time to time personal interaction with their students and family members on their academic performance and behavioral changes if any. Research shows that timely personal counseling is the most successful factor in preventing suicide cases. If needed, a professional psychologist can be sought for effective counseling. The counseling should be extended to parents and teachers. They also have to be educated that not every child can be best at everything and they have to find out their childs interest. Recently released movie Taree Zameen Par showcases this that every child is good at something and we have to nurture their interest rather than imposing their will on the students. Some psychologist suggests that parents drives the things which they were not able to do during their times through their child an in this process they go beyond the capabilities of the child. The overall personality of a student should be other parameter like sports and art also in students morale boosting. Help Line- Various help line is set up across the world who help the person who are depressed and counseling. Few of the most popular one are as below- http://www.samaritansofboston.org/ You are not alone. http://www.befrienders.org/ A helpline in Mumbai, called Aasra, has been operating for several years to tackle the problem. Connect to Young kids- Face book page Fight Against Growing Teenage SUICIDES having 768 likes In January Samaritans hosts an annual memorial service open to all suicide survivors. Dr. Anuradha Bose has begun a program of family life education, which includes information on sex and relationship for high school students which he hopes will help, but he admits its a small start to a big problem. Maharastra, the Brihanmumbai Municipal Corporation (BMC) and the Bombay Psychiatry Society (BPS) have launched an intitiative Life is Beautiftul to locate syndromes of depression in child. They recently roped in Amir Khan as a Brand Ambassador fot hits. Campaign Motivation Parent Counseling Help line-

Student :: essays research papers

Downsizing is framed within the context of removing or taking out employees witch are of much use to the company’s work process, or their performance is not adequate. It is almost like upgrading your old pc, and taking out the old and obsolete parts. Many successful companies nowadays engage in downsizing as a purposeful and proactive strategy.   Ã‚  Ã‚  Ã‚  Ã‚  Interestingly though, some studies have shown that only a handful of companies actually have improved organizational performance with downsizing. Downsizing may prove to be a good solution to some of the companies financial and staff performance problems, but downsizing has wiped out hundreds and thousands of jobs all over the world, disrupted the lives of many employees, and changed the face of employment forever.   Ã‚  Ã‚  Ã‚  Ã‚  In conclusion downsizing may be the only solution to many companies and their problems, but it leaves be hind an enormous scene of unemployment, and opens up many doors to the employees that were better left closed. Sometimes downsizing is not the only solution to a company, they could consider training some of the employees.   Ã‚  Ã‚  Ã‚  Ã‚  Now to address the second part of the question, which is about finding employees with the right qualifications to fit the desired post. Most companies nowadays look for employees with the right qualifications, but they are not willing to pay high salaries. There are many qualifications that companies seek when they are employing people to their workforce. They range from the basic ones such as enthusiasm, personality, outer appearance and so on. To the more elaborate such as technological and technical skills these are most important to data analysis, research and development sectors of a company. Visionary skills will also be in demand, for the ability to gather and analyze a wide range of data, and then this input and knowledge to guide the organization in to the future will be vital. The ability to learn will be above everything else will be very important, empowering people to grow and help their organizations achieve their desired goals & objectives. Some of these skills are innate, but many people enhance their ability to learn through college and university courses.

Dancing in the Night

It was a long, frigid night. The air was crisp and there was fog building up on the windows, as she sat and waited in the car for the night to end and daybreak to arrive. She had been fighting with her boyfriend of several years. As always, the fight ended with a loud WHACK†¦ Her face red with shame and damp with tears she shed. She did not know why she shed them- more for the pain or for the embarrassment. She sat in the car, her cries for pain dancing in the cold air, her breath becoming shorter on the intake. She wanted to break free. She wanted to break the chains over this abuse! Oh how she wanted to drive, drive anywhere and start her life over again. But again, as always, she had an excuse. She had reasoning for this crazy life, this notion of love. Thoughts swirling in her head. And then her breathing would dance in the frigid air once again. It was two o'clock in the morning. She had little clothing on to keep her warm. The only protection from the cold, besides the thin sheath of a jacket on her arms and an old scarf, was the array of goose pimples. She cupped her icy hands over her mouth and withdrew a hearty, deep breath. That still was not enough. She ran the scenario through her mind, trying to figure out where she went wrong, where she wronged the man whom she loved so dearly. All she could think of was how the thrashing of their bodies collided together, the pain she felt everytime he wanted to. She would tell him to stop, but he would stop at nothing. He always got what he wanted. These thoughts running through her mind were making her cry uncontrollably. She brought her hands to her face, gently cupping her rosy, tear stricken face. Pondering once again about her life, she could not understand one thing. She could not understand how this man, the man whom she has been with for so long, could be such an ass at times. He would man handle her, like she was one of the guys, when in reality she was frail, weak, a porcelain doll. He treated her in such a way that a savage young boy would do to a quaint dollhouse with glass dolls inside. She wiped a tear from her frozen left cheek. Rubbing her nose with the sleeve of the sheath, she gently blew. All of this crying left her nose terribly stuffed up, like traffic on a freeway during rush hour. He had broad shoulders with bulging veins, high cheekbones, a strong trunk, chiseled legs. Why would he force her? Why would he strike her? She could not think. She was almost frozen. Shaking once again from the cold night, she decided to try and get the heater to go on in her old Oldsmobile. Turning the key clockwise, pumping the break†¦ A load croak and moan spoke from within the car. Her luck- the car was dead. She knew nothing about cars. She was miles from home and from civilization. Her life was very complicated. This man spoke words of poetry about getting married and starting a family. Why would he strike her? He did not mean to though. He always bought her tulips after their fights. Pink and red ones. She loved the tulips he bought. They brought her back to her childhood. Her father was the same way. That is why she loved him so much. They are so much alike. She always fixed the same drink when they came home from a long day- Jack on the rocks. Then they would ask her to sit on their knee. Sometimes she would. When she would not, they would grab her pencil- like arm and force her down on their knee. They would never ask though. They would never ask if they could. They would just throw her frail body on the bed and pin her down. She would fight back, but after exuding so much energy, she would give in. And then the pain would begin. She never liked it. She never wanted her daddy to do this, her boyfriend to use that. After it was all over, she would sit and cry in the bathroom, blood oozing from her. Thinking about this made her flush once again and the heavens flowed from her angelic eyes. Six o'clock. Almost time for the rooster to crow. She made her way from the broken car to the side of the road. She saw some truckers pass by this secluded road during the night. She wondered if any of them had heat. What she would do for warmth right about now†¦ Then she spotted it- a large tractor-trailer coming her way. She withdrew her chaffed thumb from her pocket, shaking violently from the rough night of tears and lack of warmth. She still managed to shake her hip and open one more button on her jacket. She slightly exposed her sequin top from work the day before. She hid her tips in the hole of the right sleeve. All she needed was warmth and a place to lay her head. The tractor-trailer slowly grooved its way to a stop, like a train stopping on the tracks. The window disappeared into the door and the rough smile of this man was comforting to her. She opened up one more button and managed to say amidst the shaking, â€Å"Could ya give me a ride to the motel a few miles up? I seem to be havin' some car trouble. In return, I could give you some company- and anything else you might need, want, hafta have†¦Ã¢â‚¬  A half smile crept on her face. The driver had a sly smirk, as provocative thoughts ran through his head. He agreed to give her the ride. She agreed to his wishes. After all, that is how she met her boyfriend nearly three years earlier, running away from her daddy.