Wilson Disease Genetic Tests

Wilson Disease Genetic Tests Clinical Features in Patients with Wilson Disease Hepatic Asymptomatic hepatomegaly Isolated splenomegaly Persistently elevated serum aminotransferase activity (AST, ALT) Fatty liver, Acute hepatitis, Resembling autoimmune hepatitis Cirrhosis: compensated or decompensated Acute liver failure Neurological Movement disorders (tremor, involuntary movements) Drooling, dysarthria, Rigid dystonia Pseudobulbar palsy, Dysautonomia, Migraine headaches, Insomnia, Seizures Psychiatric Depression, Neurotic behaviours, Personality changes, Psychosis Other Systems Ocular: Kayser-Fleischer rings, sunflower cataracts Cutaneous: lunulae ceruleae  · Renal abnormalities: aminoaciduria and nephrolithiasis Skeletal abnormalities: premature osteoporosis and arthritis  · Cardiomyopathy, dysrhythmias  · Pancreatitis  · Hypoparathyroidism Menstrual irregularities; infertility, repeated miscarriages How is Wilson disease diagnosed? The diagnosis of Wilson disease is made by relatively simple tests. The tests can diagnose the disease in both symptomatic patients and people who show no signs of the disease. These tests can include: Opthalmalogic slit lamp examination for Kayser-Fleischer rings Serum ceruloplasmin test 24-hour urine copper test Liver biopsy for histology and histochemistry and copper quantification Genetic testing, haplotype analysis for siblings and mutation analysis. It is important to diagnose Wilson disease as early as possible, since severe liver damage can occur before there are any signs of the disease. Individuals with Wilson disease may falsely appear to be in excellent health. Treatment of Wilson disease Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine ® and Depen ®) and trientine (Syprine ® and Trientine Dihydrochloride) Both of these drugs act by chelation or binding of copper, causing its increased urinary excretion. Mettalothionein inducer drugs approved for treating Wilson disease are (Galzinâ„ ¢) in the U.S. and (Wilzin ®)in Europe.Zinc acts by blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zincs effectiveness has been shown by more than 30 years of considerable experience overseas. A major advantage of zinc therapy is its lack of side effects. Patients with severe hepatitis or liver failure may require liver transplant. Patients being investigated or treated for Wilson disease should be cared for by specialists in Wilson disease or by specialists in consultation with their primary physicians. Stopping treatment completely will result in death, sometimes as quickly as within three months. Decreasing dosage of medications also can result in unnecessary disease progression. How is Wilson disease inherited? Wilson disease is an autosomal recessive disease, which means it occurs equally in men and women. In order to inherit Wilson disease, both parents must carry one genetic mutation (abnormal alteration in the gene) that each parent passes to the affected child. At least one in 30,000 people of all known races and nationalities has the disease. Of the 23 different human chromosomes, the gene responsible for Wilson disease is located on chromosome 13. The gene is called ATP7B and it contains the genetic information necessary to make a copper transport protein that plays a key role in incorporating copper into ceruloplasmin and moving excess copper out of the liver. Mutations in the gene lead to an abnormal copper transporter that cannot move copper effectively or at all. More than 300 genes of the ATB7B have been identified thus far.This excess copper accumulates in the liver and other organs. Most patients have no family history of Wilson disease. People with only one abnormal gene are called carriers. Carriers (heterozygotes) may have mild, but medically insignificant, abnormalities of copper metabolism. Carriers do not become ill and should not be treated. Wilson disease patients (homozygotes) do become ill and must receive treatment lifelong or eventually they will develop severe lethal disease. One in 100 individuals in the general population carries one abnormal copy of the Wilson disease gene. Carriers have one normal and one abnormal gene. All (100%) children of those afflicted with Wilson disease receive at least one abnormal copy of the Wilson disease gene. One half (50%) of a carriers children receive at least one abnormal copy of the Wilson disease gene. A genetic counselor can provide a more detailed pedigree of specific family relationships. Family Screening All siblings and children of Wilson disease patients should be tested for Wilson disease. Other relatives who have had symptoms or laboratory tests that indicate liver or neurological disease also should be tested for Wilson disease. Biochemical Testing Children of patient: Begin at age 2 if asymptomatic, repeat once in 5 years unless reasontopursue further. Siblings of patient: Physical examination and brief history of any liver or neurological symptoms. Liver Function Tests: ALT, AST, Albumin, Bilirubin. Ceruloplasmin and Serum Copper. 24 hour urine copper Slit-lamp exam of the eyes for Kayser-Fleischer rings. If no K-F rings, abnormal liver functions tests, and low ceruloplasmin: liver bio Information about Molecular Genetic Testing All siblings and children of Wilson disease patients should be tested for Wilson disease. Other relatives who have had symptoms or laboratory tests that indicate liver or neurological disease also should be tested for Wilson disease. More than 300 different mutations of the ATP7B gene have been identified thus far. Testing Methods Available: Linkage analysis (Haplotype analysis) Molecular genetic testing to identify a set of closely linked segments of DNA (a marker or set of markers), comparing the markers of family members to those of an affected patient. Useful for: screening siblings of an identified patient Gene sequencing (mutation screening of the entire ATP7B gene) Analysis of the entire ATP7B gene to detect and identify disease causing mutations. An individual with confirmed Wilson disease needs to be tested first. If both mutations are identified, other family members can then be offered testing. Gene sequencing will identify both mutations in most but not all cases of Wilson disease. Useful for: confirmation of the diagnosis in suspected patients, family members to learn if they could be affected but do not yet have symptoms, to learn they are carriers, or to allow for prenatal testing for confirmed carriers. Analysis of a specific location in the ATP7B gene for a known particular mutation. Useful for: specific populations of patients where the common mutations are known; for screening siblings of patients with two identified mutations. Genetic testing is best coordinated through a genetic counselor who can carefully discuss the best method of testing to perform and the benefits, limitations, and implications of each method. Genetic testing is best coordinated though a genetic counselor who can carefully discuss the best method of testing to perform and the benefits, limitations, and implications of each method. Your physician should be able to direct you to a qualified genetic counselor and genetic testing facility. Definition: Kayser-Fleischer Ring: Clinical sign. Brownish-yellow ring visible around the corneo-scleral junction (limbus). Consists of copper deposits in Descemet’s membrane, extending into the trabecular meshwork. Sign of Wilson’s disease. Description and Location: Golden to greenish-brown annular deposition of copper located in the periphery (limbus) of the cornea (Descemet’s membrane). First appears as a superior crescent, then develops inferiorly and ultimately becomes circumferential. Usually requires a slit-lamp examination to detect rings in their early stage of formation. Prevalence: Approximately 95% of WD patients presenting with neurological signs will have a K-F ring. Whereas approximately 65% of WD patients presenting with hepatic signs will present with a ring. Copper chelation therapy may cause fading and even disappearance of the corneal copper over time.

How My Personal Values Influence My Way of Teaching

Relating philosophy to pedagogy – how my personal values influence my way of teaching Within any early childhood education (ECE) setting the pedagogy of the educators will have great impact on the programmes and philosophies which the children within that setting will be influenced by. Teachers have a responsibility to build and maintain authentic, open, reciprocal relationships with children, families and the community (Gailer, 2010).This is not only an integral part of the early childhood curriculum Te Whariki which has relationships as one of its four foundation principles (Ministry of Education [MoE], 1996) but also part of the teaching standards and ethics. As a teacher I relish in the chance to build relationships with many different children, all unique in their culture, strengths, ideas and way of being. The importance I place on relationships sits well with both Vygotsky’s and Bronfenbrenner’s sociocultural theories. Vygotsky emphasised the importance of the people surrounding a child, seeing them crucial for supporting and enhancing the child’s development.Bronfenbrenner extended this into a model of contextual factors, using ideas about five kinds of contexts surrounding the individual child including their micro- and meso-systems where the interactions of their day-to-day realities occur (Drewery & Bird, 2004). These theories have been vital in the development of New Zealand’s early childhood curriculum, Te Whariki, and so my understandings of these and with my personal philosophy I hope to have the skills to be able to build respectful reciprocal relationships with all learners. Building these relationships however is not as easy as people outside of the profession often assume.Appendix 2 shows Suzie Gailer’s (2010) article on being professional, the article discusses how professional integrity of practice is reliant on teachers having a particular set of values, respect, authenticity, empowerment and trans parency. The image of the child is culturally constructed and linked to our time and place in history, the image I have as a teacher today of children is very different to that of which I was viewed as a child. My image of the child has altered as I have gained both practical and theoretical teaching experience.In my first practicums I did not necessarily know what to expect about building initial relationships with children but as I have gained knowledge I now know that children can be trusted to build these relationships in timeframes which are right for them. Te Whariki (MoE, 1996) presents the image of children as competent learners and communicators and I now uphold this image in my teaching practice and as a parent (Appendices 3, 4 & 5), along with the values of respect which I have articulated through the following of Magda Gerber’s work.From my own relatively limited practical experience and theoretical knowledge I can relate to the notion of Edwards & Nuttall (2005) where â€Å"the pedagogy, or ‘the act of teaching’, is not only mediated by educators’ understandings about the children, learning, and the curriculum; their understandings about the social settings in which they work, their personal experiences beyond the workplace and their engagement with the centre’s wider community all have a role in determining the educator’s actions† (p. 36).My own underlying beliefs, values and philosophies all impact on my teaching style and, although often unconsciously, on the way I relate to individuals. Commitment to reflective practice, the personal philosophy I have articulated and the desire for professional development will aid me in holding true to a pedagogy which is responsive in time as well as to individuals. This pedagogy with its identified aspects of assessment, planning, implementation and evaluation is influenced by my values and experiences and I attempt to explain and reflect upon these in this es say.The main assessment process I use is ‘Learning Stories’, an approach developed by Dr. Margaret Carr. Learning stories show a snapshot of a learning experience which has been shared with the child or children involved and are a record of the interests and strengths of the child. Research shows that learning is more effective when it is derived from interests, encouraging motivation and the sense of confidence that comes from working within one’s own strengths.The learning story framework is based on the belief that developing good learning dispositions is the most important skill in early childhood and this fits well with my values of respect and having the Te Whariki image of the child, a confident, competent learner and communicator. The foundations of learning stories are the dispositions found in Te Whariki and in my own learning stories these are highlighted, showing fellow educators, parents and whanau how I work to support children’s learning in all aspects of the programme and curriculum (Appendices 4, 6 & 7).Upholding this image of children in practice is however met with challenges. Woodrow (1999) describes how there are resulting constructions of childhood based on how individuals experienced childhood, on cultural artefacts and on professional knowledge, Ellen Pifer (2000) also describes these conflicting images in her book Demon or Doll (Appendix 8) which has truly opened my mind to ways of seeing individuals. Other teaching professionals may hold different images of children such as the child as innocent or as an embryo adult and this will impact on the way they act around and towards children.Having a commitment towards reflective practice and regularly evaluating my personal pedagogy will allow me to deal with these challenges, giving me the skills to explain my viewpoint and understand that of others so that the best possible outcome is achieved. To undertake such assessment it is important to build a relationship with the children and these reciprocal relationships are another key part of my philosophy.This value has changed with my experience and theoretical knowledge, in my initial practicum I was unsure about how to go about building relationships that are both respectful and reciprocal (Appendices 9 & 10) but my confidence in this has, and will continue, to grow (Appendix 11). I believe that building a reciprocal relationship means sharing aspects of my life with children and not expecting them to reveal themselves without the favour being returned. I have a huge passion towards animals and I have shared this with the children on my last two practicums by taking along my guinea pigs (Appendix 12).The children feel aspects of empowerment and trust as I allow them to be intimately involved with a very important part of my personal life. Building such relationships prior to undertaking assessment highlights the spiral nature of teaching and the aspects of pedagogies. Taking the guinea pigs to the centre required planning and careful implementation, including discussion with staff and families to ensure cultural needs were met. Some cultures do not agree with the keeping of animals as pets and in order to uphold the respectful image of the child and relationships with the family and community I needed to accept and respect this belief.The centre policies and legislation also play a role in planning and implementation, health and hygiene regulations needed to be considered for this activity and for others many different policies will come into play. For further assessment and planning the involvement of colleagues and whanau in the learning stories and other documentation would play a vital role in the continuation of the interest but unfortunately the short nature of the practicum did not allow for this.Cultural needs and matches weight heavily in the planning and implementation stages of my pedagogy. This is linked to all the values in my philosophy; relationships, r espect and equity. These values mean that I believe in focussing on skills and talents rather than on deficiencies to create learning environments, for example respecting that crying is a valid attempt at communication and can be a qualified learning experience (Appendix 11). Nyland (2004) describes how the participation rights and contexts of infants’ knowledge can be overlooked in childcare settings.On-line discussions with fellow students regarding this reading give support to the idea that disrespectful environments adversely affect the identity and participation of children. What happens in an environment when an identity is missing altogether and children are faced with images of white middle class able bodied members of society? What message is that giving to these children and their families? You don’t belong? You are not a real member of our society? We don’t value you? The environments we plan for the children speak volumes about how we view society an d the people we respect and value (Ellis, R. , Fuamatu, P. Perry Smith, A. M. Moodle; September 2011). During planning I therefore need to think ahead about resources which reflect the cultures within the setting and the community. This can be achieved through communication with other educators in the setting, parents, and other members of the community such as kaumatua or the local priest. Planning for social occasions is also important to me as I feel they link the ECE setting with the wider community and social values. This includes events such as Mother’s and Father’s day (Appendix 13) as well as cultural occasions such as the Lantern Festival, Diwali and Pasifika events.Although during such planning I am mindful of the goals and learning outcomes which Te Whariki and the teaching standards present I also constantly remind myself of the holistic nature in which the learning will occur. Lawrence (2004) describes the shift in thinking and programme planning in ECE se ttings over the past two decades, from keeping children busy to planning cycles and then Te Whariki. Lawrence clarifies that although the word planning is still used; it is not in the traditional sense of the word but rather can be seen as â€Å"reflectively responding to children’s thinking (p. 16). † An example in her rticle shows how the learning experience of children can be very different to that pre-planned or expected by the teacher (Appendix 14). A challenge presents itself where teachers have been trained and had experience in times where different planning programmes were utilised, disagreeing views and beliefs can lead to conflict within teaching teams and a dedication to reflective practice is required by all parties if favourable outcomes are to be reached. This reflective practice is a vital part of the evaluation process of my pedagogy. What worked? What didn’t work? Where do I go from here?Schon (2002) described how the entire process of reflecti on-in-action, where our knowing is in our action, is central to the skill practitioners have in dealing with situations of uncertainty, instability and uniqueness as well as valuing conflict. Holding true to a value where children are respected as individuals and valued for their own unique set of skills, uncertain and unique situations are inevitable in the day-to-day practice of an ECE setting. With the set of reflective skills I now possess I hope to be able to turn these situations of uncertainty into ones of learning, for both myself and children involved.With continuing professional development and an ever increasing amount of practical experience I feel I am in good stead to continue my career as an early childhood educator and support the children within my influence to grow up in line with the aspirations of Te Whariki, â€Å"competent and confident learners and communicators †¦ a valued contribution to society† (MoE, 1996, p. 9). References Drewery, W. & Bird, L. (2004). Human Development in Aotearoa: A journey through life. (2nd ed. ). Sydney, Australia: McGraw-Hill. Edwards, S. & Nuttall, J. (2005).Getting beyond the ‘what’ and the ‘how’; Problematising pedagogy in early childhood education. Early Childhood Folio, 9, 34-38. Gailer, S. (2010). Being professional: First, do no harm! The First Years: Nga Tau Tuatahi. New Zealand Journal of Infant and Toddler Education, 12(2), 19-24. Lawrence, R. (2004). Making sense of planning – A teacher’s story. Early Education, 36, 15-19. Ministry of Education. (1996). Te Whariki: Early Childhood Curriculum / He Whariki Matauranga mo nga Mokopuna o Aotearoa. Wellington, New Zealand: Learning Media. Nyland, B. (2004).Infants, context and participation rights: An Australian image. The First Years: Nga Tau Tuatahi. New Zealand Journal of Infant and Toddler Education, 6(1), 19-22. Pifer, E. (2000). Demon or doll: Images of the child in contemporary writing and cultur e. Virginia, USA: University of Virginia Press. Schon, D. (2002). Reflection-in-action. In A. Pollard (Ed. ). Readings in reflective teaching (pp. 5-7). London, England: Continuum. Woodrow, C. (1999). Revisiting images of the child in early childhood education: Reflections and considerations. Australian Journal of Early Childhood, 24(4), 7-12.

Brown Girl Broownstone by Paule Marshall Essay

Paule Marshall writes about the social issues, the aspects and standards of lack persons living in America. Novels written in 1959 and it explores the black immigrants search for identity in American society. The novel wrote against the stereotypes of the black race and it was a milestone for African-American Fiction. Race and gender are discussed simultaneously as she speaks out against racism and presents her female character as being different form the stereotype The novel centres on Selina who suffers a traumatic childhood through to womanhood and has her psyche damaged by comparing herself to the white ideology of what makes a teenage girl beautiful. She feels inadequate because she does not math up to the definition of white elegance She also faces an internal struggle due to the fact that both her parents have differing ideologies. The title ‘Brownstones’ refers to the milieu in which the central characters live. The novel begins in 1939 and it opens with the last white residence leaving the brownstones and selling/renting to the Barbadian community . The house, the acquiring of such and the attitude towards the house defined the characters. The house therefore becomes a central symbol in the novel. The title of the novel signal the life of Selina the brown juxtaposes the girl is synonymous to the racial and gender issues at work in the novel. Placing the brownstones next to the girl browngirl emphasises the importance of personal development and individuality. The marshalls description of the brownstones is very telling and suggested â€Å"under the thick ivy each house had something distinctively its own these brownstones appear as if they were one house even though individuality is there.† But the novel also suggests that theses brownstones all share the same tragic fate. They are all draped in ivy as though mourning† The novel is divided into four books. Book 1 entitled A Long Day and A long Night; it sets up the basic tension between n Selina’s parents Silla and Deighton (dispute over land). The second book is titled Pastoral, Selina who is on the verge of adolescence. Selina who goes to Beryl to find a sense of freedom †¦here we find †¦. The third book title war corresponds with the world war 2 but is also significant as a symbol of the Barbadian community’s war against racism as well as the conflict between Silla and Deighton The last book title Selina concludes the novel, rev eals the attempts to come to terms with her father as well as a discovery of her true self. The final aspects of her growth are detailed in this section. It  is through the relationship with Clive that Selina realizes the numerous similarities between herself and her mother. In the novel the protagonists realizes that the mother is a fellow victim of racism rather than her enemy. Major themes in Brown Girl Broownstone 1. The Search for Identity 2. The racial issues and relationships 3. Femininity and Gender 4. The Effects of Migration/ Capitalism on the individual 5. The Relationship between the private and the Public, the Personal and the Communal, the Individual vs the Community 6. The Impact of the Environment/ Personal Setting on Personal Development 7. Sexual Awareness and Exploration 8. Nostalgia and the West Indian Condition 9. Male/ Female Relationships and Family Structural and Technical Devices Used by the Writer 1. Form- Bildungsroman, it is written predominantly in 3rd pov. , divided into four books, the use of quotations from the Barbadian community as preludes 2. Symbolism- The title brownstone houses, Deighton’s land, Barbados, the presence and absence of light is symbolic of awareness, knowledge and maturity 3. Some characters who are symbols are Suggie, Miss Thompson, Miss Mary, Beryl, the Homeowners Association 4. Structural Elements- use of West Indian Vernacular (used to show a sense of identity with their West Indian counterparts) 5. Characterization (in this novel characters are developed through relationships with other characters along with the setting and the author’s description ) 6. Plot Structure (the plot is linear and chronological allowing for the adequate development of Selina 7. Setting – New York vs. Barbados and the tension of place

Hitler s Intent For A Jewish Utopian Society - 1442 Words

In the year 1844, a French author by the name of Alexandre Dumas wrote and published his book called The Three Musketeers, where their famous motto â€Å"One for all, All for one† continues to be used today. This phrase best describes how Germany operated during the time of Adolf Hitler’s reign; the individuals supported Hitler and the Nazi Party for the endorsement of an anti-Semitic and nationalist country (the one-for-all aspect), while the group supported the individuals, as the people wanted to improve their disastrous economic burden (the all-for-one aspect). To understand Hitler’s intent for a Jewish-free utopian society, we must first rewind time to World War I. During World War I, as part of the Central Powers, Germany was heavily involved in the war effort against the Allied Powers and suffered many losses to their empire. Due to the Treaty of Versailles, parts of their domain stripped from them, they were forced to reduce their fighting power, and they were also left with the burden of reparations from the war. This effectively led the empire into complete chaos as they suffered from humiliation and unemployment from its harsh punishment. It could be said that Adolf Hitler was at the right place at the right time when he took the opportunity that arose to become a prominent figure and promote his ideology. He managed to rise to power along with the National Socialist German Workers’ Party, or the Nazi Party, which turned into a mass movement based upon theShow MoreRelatedOne Significant Change That Has Occurred in the World Between 1900 and 2005. Explain the Impact This Change Has Made on Our Lives and Why It Is an Important Change .163893 Words   |  656 PagesLandscape Sam Wineburg, Historical Thinking and Other Unnatural Acts: Charting the Future of Teaching the Past Sharon Hartman Strom, Political Woman: Florence Luscomb and the Legacy of Radical Reform Michael Adas, ed., Agricultural and Pastoral Societies in Ancient and Classical History Jack Metzgar, Striking Steel: Solidarity Remembered Janis Appier, Policing Women: The Sexual Politics of Law Enforcement and the LAPD Allen Hunter, ed., Rethinking the Cold War Eric Foner, ed., The New American