Sunday, January 26, 2020

Genetic Mapping of Cystic Fibrosis and Huntingtons Disease

Genetic Mapping of Cystic Fibrosis and Huntingtons Disease Genetic Mapping By the late 1970s, the list of genetic diseases in McKusicks catalog of genetic diseases had grown exponentially. But only a few of the actual genes were identified, leading to predictive diagnostic tests. It seems that finding a disease-linked gene in humans is like looking for a needle in a haystack. Botstein/Davis Gene Mapping Technique In 1978, David Botstein (1942- ), a geneticist from MIT, attended a genetic mapping presentation in Utah. At the presentation, a graduate student was mapping a gene that happened to be sitting with a gene that existed in many easily identifiable variants. As Botstein listened, he was struck by an idea: gene mapping would become a trivial task if such variant signposts existed and were spread across the human genome. Botstein knew that such a marker exists. Over centuries of evolution, thousands of minute variants in DNA sequence are created in the human genome. These variants are called polymorphisms, and are spread widely over the human genome. Working with Ron Davis (1941- ) and Mark Skolnick (1946- ), Botstein published their new basis for the construction of human genetic maps in 1980. Mapping Huntingtons Disease (HD) Nancy Wesler, a psychologist, heard about Botsteins gene-mapping proposal in October, 1979.ÂÂ   Her mother and uncles all had suffered from Huntingtons disease, but she was still asymptomatic. Huntingtons disease causes the death of specific neurons in the brain, leading to jerky movements, physical rigidity, and dementia. Symptoms usually appear in midlife and worsen progressively. At that time, Botsteins method was still theoretical thus far, no human gene had been successfully mapped with it. Botsteins technique was crucially dependent on the association between a disease and markers: the more patients, the stronger the association, the more refined the genetic map. There were only a few thousand HD patients in scattered across the United States seemed perfectly mismatched to this gene-mapping technique. However, Wexler had heard that there was a prevalence of HD on the shores of two villages in Venezuela. In the winter of 1979, Wexler set off to Venezuela to hunt the Huntington gene. She hired a team of local workers to begin documenting the pedigrees of affect and unaffected men and women, collecting blood samples to be shipped to the laboratory of James Gusella, at the Massachusetts General Hospital in Boston, and to Michael Conneally, a medical geneticist at Indiana University. In Boston, Gusella purified DNA from blood cells and cut it with a barrage of enzymes, looking for a variant that might be genetically linked to HD. Conneallys group analyzed the data to quantify the statistical link between the DNA variant and the disease. In 1983, three years after the blood samples had arrived, the location of the HD gene, whose mutation causes Huntingtons disease, was mapped to chromosome 4 in 1983, making HD the first disease gene to be mapped using DNA polymorphisms variants in the DNA sequence. The mutation consists of increasing repetitions of CAG in the DNA that codes for the protein huntingtin. The number of CAG repeats may increase when passed from parent to child, leading to earlier HD onset in each generation. Mapping of Cystic Fibrosis (CF) Davis and Botsteins technique of mapping genes based on their physical positions on chromosomes later called positional cloning marked a transformative moment in human genetics. In 1989, the technique was used to identify a gene that causes cystic fibrosis, a devastating illness that affects the lungs, pancreas, bile ducst, and intestines. Unlike Huntingtons disease, the mutated variant of the CF is common: one in twenty-five men and women of European descent carries the mutation. Human with a single copy of the mutant gene are largely asymptomatic. If two such asymptomatic carriers conceive a child, chances are one I four that the child will be born with both mutant genes. Until the 1980s, the average life span of a child carrying two such mutant alleles was twenty years. In 1985, Lap-Chee Tsui, a human geneticist working in Toronto, found an anonymous marker that was linked to the mutant CF gene. The marker was quickly pinpointed on chromosome seven, but the CF gene was lost somewhere in that chromosome. Tsui began to hunt for the CF gene by progressively narrowing the region that might contain it. In 1989, using a modified gene hunting technique called chromosome jumping, Tsui and his colleagues had narrowed down the gene hunt to a few candidates on chromosome seven. The task was now to sequence the genes, confirm their identity and define the mutation that affect the function of the CF gene. They discovered that only one gene was persistently mutated in both copies in affected children, while their unaffected parents carried a single copy of the mutation. The CF gene codes a molecule that channels salt across celluar membranes. The most common mutation is a deletion of three bases of DNA that results in the removal, or deletion, of just one amino acid from the protein. This deletion creates a dysfunctional protein that is unable to move chloride across membranes. The salt in sweat cannot be absorbed back into the body, resulting in the characteristically salty sweat. Not an the body secrete salt and water into the intestines, resulting in the abdominal symptoms. Within a few months of the discovery, a diagnostic test for the mutant allele became available. Over the last decade, the combination of targeted parental screening and fetal diagnosis has reduced the prevalence of children born with CF by about 30 to 40 percent in populations where the frequency of the mutant is the highest.

Saturday, January 18, 2020

Tda 2.3 Communication and Profesionalrelationshipswith Children and Young People

Introduction In this assignment I will be discussing the different way we communicate with children, young people and other adults. Also, how to deal with disagreements between children and adults. And looking at how we speak and communicate with people and the benefits it has Task 1 Children and young people Describe how to establish respectful, professional relationships with children and young people It’s most important that first of all you talk to a child or young person that is at a level that is appropriate to their age.Making sure that you come across as calm caring and approachable person, who is also willing to listen to what they have to say and making them feel that what they have to say is also important. Also setting out mutual ground rules so you both know what is expected from each other so there is no confusion from either side.And simple things like learning a person’s name and pronouncing it correctly, being alert to their feeling, giving time to pupi ls as an individual and using lots of positive and encouraging words when speaking to children and young people. Describe with examples how to behave appropriately for a child or young person’s stage of development When communicating with children or young people you need to make sure you are communicating at a level that is at their â€Å"age related† stage of their development.But keeping in mind that children and young people mature and develop at different stages, and children with â€Å"special needs† may need more help from different professions to assess their development stage. Children in foundation and key stage 1 these pupils are still developing their language and communication skills so it’s important that when we speak to them we get down to their level so we are not towering over them which may be intimidating to small children.When communicating with small children its important you have their undivided attention as they have a limited att ention span a good way of making sure they have understood what you have been speaking about is to get them to relay the information back to you that way you know they have understood this is also a good way to asses there development stage as well. When they become upset or hurt we can put are arm around them to comfort them. We should be enthusiastic when asking them to do things or learn something, this will encourage them to give it a go, and ots of smiles at them are reassuring Key stages 2 By this stage children have a better understanding on how to communicate with their peers and other adults. It’s important that we listen and talk to them at their own level, not talking down at them and make eye contact. We mustn’t talk over them or be sarcastic and we should be positive about what is being said. Now that the children are a little bit older we should encourage them to take pride in their work and the things they do. Key Stage 3 and 4Now that the children are o lder they will be able to communicate effectively with others, we can behave by talking at their level and not talking down to them this may make young people feel intimidated or belittle. It’s also important to set some mutual ground rules so they know what is excepted of them and what the consequences for misbehaving will be make sure you are very clear of what you expect. If they are upset or hurt be sympathetic to their feeling and needs, we can also offer advice and guidance if appropriate.For those children that may be disruptive or not listening, try to encourage them to participate more or remind them what is expected of them Describe how to deal with disagreements between children and young people Some disagreements between children depending on their age they may be able to solve between themselves, but for those that can’t it’s important that we stay neutral and not take any sides. When managing a disagreement it’s important we go back to the b eginning where the argument started and give each child a chance to tell their side of the story.It’s important that the pupil feels they have been heard and acknowledged. It’s also important that the children discuss how the situation has made them feel and possibly give them the chance to come up with a solution themselves on how the disagreement could be resolved. For arguments that maybe more serious it could be advised that the children involved are separated from others and given time out to calm and think about what has happened, we must also encourage children to understand and respect other peoples feeling and emotions.Then we need to work out whether any apologies are required or further steps need to be taken. Describes how own behaviour could: -promote effective interaction with children and young people Children often lead by example, so we must lead the way by showing them how to, with good communication skills, using appropriate language and being a good , positive role model. Encourage children to make the right decision when needed. Always set boundaries so they know what to expect and what is also expected of them.Show them respect and use genuine praise, and build confidence and trust. -impact negatively on interaction with children and young people If you look at some of the opposites that I have talked about above such as bad or low communication this may cause a barrier between you and the pupils which will prevent you hearing and seeing what they won’t or what they are doing. Using inappropriate language they may pick it up and start using it, criticing, teasing, belittling or disregarding their efforts will lower their self-esteem and confidents .Always mean what u say, don’t break trust or confidence as they will feel like you can’t protect or help them. Adults Describe how to establish respectful, professional relationships with adults To establish a respectful professional relationship it’s im portant that we communicate well and offer each other help and support where needed. â€Å"You should use language that other adults (including parents/carers, colleagues, volunteers or students) are likely to understand, avoid using jargon or technical language unless you are sure they understand its meaning. (T Kamen 2010 pg. 71) Whether you are speaking to a colleague, parent/carer or someone from another profession it’s important that you are practical, you may be working with someone who is unfamiliar to the surroundings or need help to find things, also make sure you are informative, you may need to give information and support to someone regarding an issue or situation they know nothing about, act in a professional manner by demonstrating personal courtesy and integrity it’s never appropriate to â€Å"gossip† .Being Emotional have a sense of humour where appropriate being caring and understanding to peoples situation. Developing and promoting good effect ive relationships with the people you work with helps to maintain a positive learning environment for pupils, parents/carers and also staff. Describe the importance of adult relationships as role models for children and young people It’s common for children to copy and model the attitudes, behaviour and actions of adults around them.It’s important that people working with children then understand the impact they can make on a child’s social and emotional development. Being a good role model means we should use good positive and encouraging communication skills, speak to others in a manner we wish to be spoken to, be friendly helpful and considerate to other people. Work cooperatively, take turns to speak not over the top of other and show the importance of sharing.The more we show this through our own interaction and relationships with other adults the more likely children will realise what a guild line is to appropriate socially acceptable behaviour. Task 2 Des cribe how communication with children and young people differs across different age ranges and stages of development Young children in foundation stage and key stage 1 age this age will still be developing the language and communication skills and will need to be reminded to take it in turns when speaking and reminded of the importance of listening to others.When talking to young children it’s important that we speak clearly, slowly and use words that aren’t too big that they won’t understand, it’s important that we check that they have understood what we have said by asking questions and asking them to repeat what we have said. By the time children get to key stage 2 they are starting to mature in the way they communicate with their peers and their teachers. Pupils by this stage have a better understanding of how to communicate and will be less self-centre and more considerate of others.You may need to remind some children about waiting for their turn to speak this may be down to immaturity or possibly their personalities. Also by this stage they will understand bigger words but may still need the meaning of some words explained. By the time they get to key stage 3/4 young people my become more self-conscious about speaking in front of others and be embarrassed easily, it’s important that we give lots of time to prepare and plan for these things and loads of encouragement along the way.Also by this stage they may be using lots of alternative ways of communicating with their peers and other adults such as phone texting, email and possibly social networks. Young people by now will have a good understanding of formal and informal language, and know how to communicate better with people and have a good use of more complexed words. Within each of these different stages you may be asked to work with children with special educational need, where you may have to adapt your communication skills further to meet their independent needs and abilities.Describe the main differences between communicating with adults and communicating with children and young people There are many similar communication skills we use that are the same when dealing with adults and children such as remaining eye contact, responding to what they’re saying, treating them with respect and courtesy, and also using non-verbal communication such as smiling or nodding. When speaking with children it’s important to encourage good communication skills by demonstrating this so we need to communicate clearly, concise and at a level that is equivalent to their age and needs.Make sure you are actively listening and positive responding, offering praise and encourage, or support if need. But when speaking to adults are language is more complex but must be on a professional level, we must also respect other people’s ideas and thoughts even if you’re not sure about them. We may even use different ways of communicating such as t exts, emails, notices or letters. Always comply with policies regarding confidentiality, sharing information and data protection.And also avoid assumptions regarding a person or a situation, Identify examples of communication difficulties they may exist There are many different reasons for communication difficulties which I have listed some below Individuals with special educational needs Age barriers Low or poor communication Hearing impairment Different values or beliefs External factors Opposite expectations Lack of confidence/ self-esteem Speech and language difficulties Bilingual Visual impairedDescribe how to adapt communication to meet different communication needs You may need to adapt your way of communication in order to meet the needs of the person you are speaking to, depending on the age and experience of the person you are dealing with, the context of the conversation and the communication needs of the individual . When communicating with people with earing impairment / deaf, medical problems, special educational needs, poor vision or blind it’s important that we speak clearly, appropriately and slow are speech if necessary, use visual aids such as pictures photography and flash cars. Maintain good eye contact and positive body language. For someone who is hearing impaired or deaf, be sure you face the person so they can lip read or use sign language if you know it.Also if dealing with a visual impaired child make sure you address them by name so they know you are speaking to them, and those with some vision sit them at the front of the class so they have a better chance of seeing you and the board â€Å"It is possible that you will adapt the way you communicate with them without even realising that you are doing it, we often change the way we react to others depending on the way in which they react to us† (L Burnham, B Baker 2010 pg. 49) Describe how to deal with disagreements between the practitioner and children and young people The first thing to remember is never get into an argument with a child or young person you must stay professional and calm at all times. It could be useful to explain to the child what you expect and how their behaviour is unacceptable and why it’s not appropriate but acknowledge that here is a problem and be understanding to their feelings. If the problem starts to escalate you may need to walk away and ask for advice or help from a 3rd party.If you are a bystander you may need to intervene and offer assistants or advice on the situation or report what you have seen depending on the seriousness of the situation -the practitioner and other adults I think one of the most important things to remember If you find yourself in a disagreement with another adult is not to let the situation escalate. â€Å"where there are areas of conflict with other adults ,you will need to show sensitivity an try and resolve the problem as soon as possible, the longer a problem is allowed to go on , the more difficult it will be to put right† (L Burnham, B Baker 2010 pg. 6) So it’s important that individuals involved take time out together to discuss the issue openly and honestly and work out how it may be resolved, as adults we can misread or perceive information wrongly an even just miscommunicate with each other by talking about the issue these confusions can be quickly rectified , It’s hard to work efficiently and effective if the atmosphere you are working in is full of tension or bad feelings. If the disagreement cannot be resolve between yourselves you may need to involve a mediator to offer advice or help on how things can be resolved.If by this stage you cannot resolve the issue the school will have a grievance procedure to then follow this will then usually require you to put the issue or concerns in writing and your line manager and head teacher being involved. For serious conflict issues that cannot be resolve you may need to seek help from the school governors or the local authorities Task 3 Identify relevant legal requirements and procedures covering confidentiality, data protection and the disclosure of informationWithin school we are require to gather a variety of information regarding children and young people from medical or health issues, Personal information, records from other schools and many other things too, all the information that we gather is protected by the data protection Act 1998 the principles regarding this legislation is that all information collected can only be used for the purpose it was collected for, must be protected and stored securely, relevant. Information mustn’t be kept longer than necessary and must be accurate.Information collected regarding issues under the Every Child Matters Act 2004 which will look further into the safeguarding an welfare of children once again this information is confidential and will only be used and shared on a need to know bases its important that we know when and when not to share information. You are entitled to see all information that has been collected only about yourself â€Å"your right to know† this is covered by the Freedom of Information Act 2000.Describe the importance of reassuring children, young people and adults of the confidentiality of shard information and the limits of this It’s important that we reassure children, young people and adults that information about them is kept confidential, safe and only be used where and when necessary and only for the duration required, we must reassure them this to maintain their trust and security, Parents/carers and colleagues may hare certain information with you regarding a child to help you understand any particular needs that the child may have all information given to you must be kept confidential. It s their right to privacy that this information is kept confidential and not passed on for others to talk and gossip about as this will also break their trust and make them feel betrayed. Children and young people also need to know that their information is kept confidential and won’t put them at risk of being teased or bullied.Adults also need the peace of mind that the information regarding their child or family isn’t going to become the talk of the playground. There may be times when you need to share information that you have collected but this must only be on a â€Å"need to know basis† with your other colleagues, In most cases parental consent is necessary before sharing information with other professional bodies that may be working with a child, although the school does have a legal obligation to share information if they think there may be a risk to a child.If you are going to pass on any confidential information then it is important that you tell the person you are going to do so and explain to them the reasons why and with whom. Identify the kinds of situations when confidentiality protocols must be breached Con fidentiality protocols may need to be breeched on such occasions, if you suspect a child is being abused, harmed or in danger.We must also break these protocols if a child discloses to you that they are being abused in any way, but it’s important that you tell the individual that you may not be able to maintain confidentiality if they disclose something to you, you should never promise to keep a† secret† but reassure them that information will only be shared for their own safety and wellbeing and only with those that need to know about it. We must always remember that the safety and welfare of a child must always come first and that we follow he correct protocols regarding the breach of confidentiality. the law allows the disclosure of confidential personal information in order to safeguard a child or children† (T Kamen 2010 pg. 54) Confidentiality may also be breeched if you know of a criminal offensive that has happened. Bibliography Teena Kamen -2010 Teac hing Assistant’s Handbook level 2 Abingdon, Oxon – Hodder Education Louise Burnham and Brenda Baker -2010 Supporting Teaching and Learning in Schools Harlow, Essex – Heinemann Teena Kamen – 2008 Teaching Assistants Handbook Abingdon, Oxon – Hodder Eduation

Friday, January 10, 2020

How to Find Writing Personal Essay Topics Online

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Thursday, January 2, 2020

Magazines And Its Influence On Society - 947 Words

Magazines have evolved over time in the mass medium industry. Magazines have also provided various avenues in which people can communicate through articles and advertisements. More importantly, magazines played a key role in America before newspapers came about. However, it wasn’t until the early colonial period in which enlightened thinkers such as: John Adams, Thomas Jefferson, and Thomas Paine all conveyed their views on politics. Magazines during this time served as a voice of reasoning to the educated and middle class. Moreover, it wasn’t until the 1800s until magazines evolved into special interest magazines which showcased great writers, artists, musicians, and other professionals. Some of those people were: Waldo, Wadsworth, and Holmes. During this time magazines appealed more to the localization of people and issues. Nevertheless, magazines are still growing rapid today and has revolutionized through technologies and general interest. Some dominant economic traits today in the magazine industry are the appeal to different and various audiences. Also, some other traits are the Money-in factors which contribute to magazine sales. Today you can find a magazine that fits your interest since the decline of general-interest publications. However, there are specialized magazines such as: Men’s and Women’s magazines, Entertainment/Sports, Age Specific, Elite, Minority, and Trade magazines. The magazines speak to a specific audience and hobby. Also, a big money-in factorShow MoreRelatedEssay about Teen Magazines Negative Influence on the Teenage Society1063 Words   |  5 Pagesâ€Å"hottest† teen magazines on the market; Allure, Cosmopolitan, Seventeen, and Teen Vogue are a few at the top. 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