Neurofibromatosis & Its Genetic Implications Essays - Genodermatoses

Neurofibromatosis & Its Genetic Implications Essays - Genodermatoses Neurofibromatosis & Its Genetic Implications The National Institute of Health defines Neurofibromatoses as group genetic disorders that affects the development and growth of neural cell tissues. These disorders cause tumor growth in nerve tissues, skin changes, and in some cases bone deformities. Of the eight possible subtypes of Neurofibromatosis (NF) at least 85% are represented by NF Type 1, also known as von Recklinghausen or classic peripheral neurofibromatosis. It has a prevalence of about 1:4000 live births. An additional ten percent have NF Type 2, also known as acoustic or central neurofibromatosis and occurs in about 1:50,000 live births (Baskin 1). This paper will deal only with the more prevalent NF Type 1 and focus on the symptoms of the disease and biochemical aspects of the NF1 and the ethical implication of inherited genetic disorders. NF1 is an autosomal dominant inherited disease characterized by multiple caf-au-lait spots, numerous fibromas, and Lisch nodules. Most manifestations appear during childhood and early adult life. Clinical criteria for diagnosing the disease must include two or more of the following symptoms: (1) six or more caf-au-lait spots larger that 5 mm in pre-pubescent individuals and greater than 15 mm is post-pubescent individuals, (2) two or more neurofibromas of any type or one plexiform neurofibroma, (3) axillary or inguinal freckling, (4) sphenoid bone dysplasia, (5) optic glioma, (6) Lisch nodules, and (7) a family history of NF1. Other manifestations include learning disabilities, epilepsy, mental retardation, scoliosis, gastrointestinal neurofibromas, pheochromacytomas, and renal artery stenosis (Goldman 2074). Caf-au-lait spots are pigmented macules of giant melanin granules seen in the basal layer of the epidermis and are distinguished by the presence of more DOPA-positive melanocytes than surrounding skin and a smooth border and light brown color of the macules. Neurofibromas are hamartomatous, a mass of disorganized tissue indigenous to a particular site (Robbins 134), that are composed mostly of Schwann cells, but also contain fibroblasts, mast cells and macrophages. Plexiform neurofibromatoas, large, multilobe pendulous masses, are more deeply situated in large nerves, usually involve the limbs, and are associated with hypertrophy of underlying soft tissues and bones. Lisch nodules, or iris harmartomas, are the most common manifestation of NF1. They are dome shaped, elevated, avascular, melanocytic nodules of the iris with a smooth shape and some translucency (Baskin 1-3). Neurofibromatosis Type I is an autosomal dominant disorder without predilection for sex, race, or color. It shows with complete penetrance with highly variable expression. The gene is located on chromosome 17q and the gene encompasses around 350 kilobases (Goldman 2074). The gene codes for the protein neurofibromine which resembles certain proteins that inactivate oncogenes (Hulsebos 620); thus lacking neurofibromine can lead to an increased disposition to cancer. Although the disorder is inherited, the spontaneous mutation rate is between 2.4 and 4.3 x 10-5 (ncbl.nlm.nih.gov). A predominant paternal derivation suggests that the original mutation occurs in the mitotic divisions that take place during male gametogenesis but not during female gametogenesis. The NF1 gene can show a twelve kilobase deletion involving exons thirty-two through thirty-nine in some cases or a more severe deletion involving a 100 kilobase deletion from exon four near the five prime end of the gene to intron thirty-nine near the three prime end of the gene (nclb.nlm.nih.gov). There does not appear to be any correlation between particular genotypes and phenotypes (Goldman 2074). The sequence of the NF1 gene predicts 2,485 amino acids in the NF1 peptide. The peptide shows some similarity to human GTPase activating protein (GAP). This finding suggests that NF1 codes for a cytoplasmic GAP-like protein that interacts with proteins like the RAS gene product in the control of cell growth in. shows that the tumor suppressing activity of the NF1 protein negatively regulates p21 (RAS) and shows a positive growth role for RAS activity in NF1 tumors. The NF1 gene product neurofibromine contains a GTPase activating protein known as NF1 GRD that downregulates RAS by stimulating intrinsic GTPase. Since RAS and GTP are major regulator molecules in cell growth and differentiation, mutant neurofibromines resulting from somatic mutations in the NF1 gene might interfere with the RAS signaling pathway and thus contribute to the development of tumors (ncbl.nlm.nih.gov). The probability of transmission of NF1 is 50% with each pregnancy,

A&P by John Updike Essays - AP, Free Essays, Term Papers

A&P by John Updike A&P by John Updike In the story "A&P," by John Updike, the main character Sammy makes the leap from an adolescent, knowing little more about life than what he has learned working at the local grocery store, into a man prepared for the rough road that lies ahead. As the story begins, Sammy is nineteen and has no real grasp for the fact that he is about to be living on his own working to support himself. Throughout the course of the story, he changes with a definite step into, first, a young man realizing that he must get out of the hole he is in and further into a man, who has a grasp on reality looking forward to starting his own family. In the beginning, Sammy is but a youth growing up learning what he knows about life in small town grocery store. His role models include, Stokesie, the twenty-two year-old, supporting a family doing the same job Sammy does yet aspiring to one day have the managers position, and Lengel, the store manager who most certainly started out in the same place that Stokesie and he were already in. Stoksie, the great role model, continues to be as adolescent as Sammy, with his "Oh, Daddy, I feel so faint," and even Sammy sees this noting that "as far as I can tell thats the only difference (between he and I)." Sammy whittles away his days looking at pretty girls and thinking about the ways of people. He hardly realizes that this is how he will spend his entire existence if he doesnt soon get out of this job. During this day that will prove to change his life, he makes the step towards his realization. He decides that he doesnt want to spend the rest of his life working at an A&P competing for the store managers position. Sammy thinks to himself about his parents current social class and what they serve at cocktail parties. And, in turn, he thinks about what he will be serving, if he stays at the A&P, "When my parents have somebody over they get lemonade and if its a real racy affair Schlitz in tall glasses with Theyll Do It Every Time cartoons stenciled on." He must get out and the sooner the better. He is still just an adolescent who hasnt completely thought through his decision and yet his mind is made up. He quits his job using the girls merely as an excuse to get out. His final journey to manhood is a short one. He looks around for his girls and notices that they have already left, but he knew that was a futile cause to begin with. And he steps outside to see the world and its opportunities as well as its responsibilities in front of him. Although, Sammy could see "how hard the world would be hereafter," he knew that what was done had to be done. In hindsight, Sammy still knew he had done the right thing as shown by "Now here comes the sad part of the storybut I dont think its so sad myself."

Social Justice Issues Concerning Minority Children in America Term Paper

Social Justice Issues Concerning Minority Children in America - Term Paper Example This cannot and should not be understood to mean that minority children are somehow irrevocably different or predisposed to certain strengths or weaknesses. Rather, environmental factors as well as the pervasive views within society, uneven allocation of resources, and the alternative approaches that certain cultures take with regards to the topics which will herein be discussed are the most powerful factors in shaping the way that minorities must integrate with the overall application and importance of such determinants. With regards to the cognitive development that takes place within minority shareholders, it is the very strong belief of this author that this determinant/measurement is fundamentally and absolutely no different than the level of cognitive development that takes place within white/affluent shareholders. The greatest level of differentiation with regards to this is realized as a function of the quality of the educational system itself and the degree to which the fami ly impact upon this cognitive development. ... Strident members of one side of the argument state that minority students are nearly an entire standard deviation away from their white counterparts with regards to their overall level of scholastic achievement. Those in disagreement with such a stance pointed the fact that the gap is necessarily smaller yet nonetheless extraordinarily important to focus upon and seek to fix. The ugly truth at the heart of the matter is with regards to the quality of the teachers, the overall level of funding, and the importance that education and scholastics is able to realize on the home front of these minority families (Deo, 2012). With regards to the first two of these determinants, they can be understood to integrate most closely with a level of tacit racism that exists within the educational system. Due to the fact that the US Department of Education, and community shareholders, must seek to allocate limited resources in order to affect limitless needs, minority neighborhoods/communities are of tentimes deprived of fundamental and necessary technologies, high quality teachers, and monetary resources with which to effect positive growth on the overall level of academic achievement that their students can reflect (Pilkington, 2013). However, this last determinant which has been listed is with regards to the level of importance that education plays within the family unit. Although the first two of these determinants can be affected from a governmental/community level, the third is one that must necessarily take place within the home. It is the further understanding of this particular author that the tests and metrics that are used to measure students are not in and of themselves biased; rather, the appropriation of funding, resources, and

Principles Of American Bible Society Research Paper

Principles Of American Bible Society - Research Paper Example The virtues are not values like honesty or loyalty that one recites in grade school. These virtues mentioned in Galatians are the hallmarks of maturity that one should seek when looking for a spiritual mentor. For one, the aforementioned virtues are not deliberately adopted by a person to become his personal virtue since it is the Spirit that implants these virtues within a person. Looking at the background of these verses, these virtues were listed to serves as concrete examples that contrasts the acts of the flesh such as â€Å"envyings, murders, drunkenness, revellings† (Gal.5:21). It is also significant to state that â€Å"the flesh lusteth against the Spirit† (v.17). which explains that since people are made of flesh, it is natural for humans to lust for vices like wine, gossip, money, or illicit sex. But, when a person has spiritually matured, he has struggled over this vices and starts exhibiting the virtues mentioned. What makes these virtues grow? Walking in faith with God makes these virtues thrive within ourselves. Therefore, when one is a matured Christian he or she manifests the virtues in his way of life. It is conclusive to say then that a Christian who has attained spiritual maturity will reflect these virtues in his daily affairs whether it be at work, or at leisure time. Among the virtues that were listed as fruits of the Spirit, I chose love, joy, and peace. I consider them as hallmarks of maturity since they are the basic foundation of all virtues yet they are the hardest to cultivate when one does not walk in God’s word. The first virtue is love which is known as â€Å"agape† in Greek. This love2 is as â€Å"agape† refers to brotherly love that should exhibit mercy and benevolence.

Biography of Martin Luther :: Protestant Reformation World History Essays

Biography of Martin Luther Martin Luther , who was born in 1483,remains in history known as on of the few unique forces that changed the world fundamentally by force of will and by his ideas. The people who support him call him the â€Å"Protestant hero, a freedom fighter, and a wise insightful church leader.† But there are many people who do not like and the names they call him are a â€Å"heretic, an apostate, and a profane ecclesiastical terrorist.† Often Luther called himself a simple monk or a simple Christian. He was glad that a straight-forward stand of sense of right and wrong had turned him into one of the most talked about people of his time. Little did he know that, that simple Christian and that simple stand for what is right and what is wrong changed the course of World History. I will explain Martin Luther in four main parts of his life. First, his early years; second, Luther’s struggle to find peace and his discovery of grace; third, his problems with the sell of indulg ences; and finally, Luther’s death and legacy. First of all, Martin Luther’s early years of his life. Martin Luther was born to Hans and Margaretta Luther on November 10, 1483 in Eisleben, Germany. He was baptized on the feast day of St. Martin of Tours , of which he was named of. His father owned and worked a copper mine in the nearby town of Mansfeld. Having come from peasantry, his father was determined to see his son rise up to civil service and bring more honor to the family. To achieve this goal Hans sent Martin Luther to schools in Mansfeld, Magdeburg, and Eisenach. When he was seventeen, in 1501, he entered the University of Erfurt. There he received a Bachelors degree in 1502 and a masters degree in 1505. Trying to fulfill his fathers wishes he enrolled in the law school of that university. Little did he know that all that was about to change. While riding a horse during a thunderstorm in the summer of 1505 a lightning bolt struck near him while returning to school. Being in a terrified state he cried out, â €Å"Help, St. Anne I’ll become a monk † Luther was spared his life and so he kept his promise and entered the monastery at his law school.

Biography and Artwork of Guy Harvey Essay

Guy Harvey was born in Lippspring Germany on September 16 1955. Guy Harvey is a 10th generation Jamaican as his family of German heritage immigrated there in 1664. Guy Harvey grew up next to the islands of Jamaica where there he spent most of his time diving and fishing of the islands southern coast. Guy soon fell in love and was fascinated by all types of fish and sea creatures. He then felt it necessary to re create all of these scenes in art so he began to draw a lot of marine life. Guy’s natural gift to recreate the underwater realm has propelled him from Professor of Marine Biology to a Wildlife Artist and Photographer. Guy initially opted for a scientific education, earning high honors in Marine Biology at Aberdeen University in Scotland in 1977. He continued his formal training at the University of West Indies, where he obtained a Doctorate in Fisheries Management. In 1985 guy began to recreate the novel â€Å"The Old Man and The Sea† by Ernest Hemingway into a b eautiful series of 44 pieces with pen and ink drawings. Guy enterered this artwork into museums in Jamaica. Guy received numerous awards and compliments on his pieces so by 1986 Guy went pro and then began providing artwork for merchandise such as apparel. Guy then became more involved with underwater photography where he traveled the world and became perfected the art of photographing free swimming billfish. Guy Harvey also became involved with scuba diving. Being underwater and on top of it enable guy to really get a better understanding of fish and marine life which makes his artwork that much more better and realistic. The Jamaica Committee presented Guy Harvey the Award of Excellence for his hands-on commitment to marine sciences, his inspired promotion of the protection of the marine environment and his philanthropy. The second is the Vasco Nunez de Balboa Grand Cross- the highest honor the country of Panama bestows on a non-Panamanian. Guy Harvey was presented this award for his work to preserve and publicize Panama’s marine resources. Lastly, the International Swimming Hall of Fame Gold Medallion Award. Presented each year to a former competitive swimmer for his or her national or international significant achievements in the field of science, entertainment, art, business, education, or government. Guy has also written numerous books toward the conservation of fish and other marine species as well as the biology aspects of his work. Guy Harvey is not only a full time artist, buy Guy is a huge conservationist. Guy has created organizations such as the Guy Harvey Ocean Foundation to help ensure conservation with marine organisms. Guy donates thousands of dollars to other organizations as well to make sure that we have life filled ocean in another one hundred years. References http://www.guyharvey.com/Biography http://www.natureartists.com http://www.depaulas.com

The Iliad Of Homer s Achilles - 888 Words

Every human, throughout life will tend to make mistakes. They personally tend to think something is good one day then look back on it later just to realize it was not such a great idea. Through these mistakes personally, one grows as a person and learns from them. In The Iliad of Homer, Achilles goes through many trials and tribulations, making some harsh and careless choices. Sorrowfully, Achilles does not learn from these mistakes until it’s far too late. One of Achilles first prolonged lessons learned was that one should be less intense when it comes to one’s values. During the first couple books of The Iliad of Homer, honor is the most important thing to Achilles. Honor comes before all. Unfortunately, in book nineteen, Achilles beloved comrade and brother-in-arms Patroklos is killed by Hector, the eldest son of the Trojan king. In the beginning of book nineteen Achilles becomes portrayed as devastated and angry. Latimore shows us here in lines 1-40: And Thetis came to the ships and carried with her the gifts of Hephaistos. She found her beloved son lying in the arms of Patroklos crying shrill, and his companions in their numbers about him mourned. She, shining among divinities, stood there beside them. She clung to her son’s hand and called him by name and spoke to him: â€Å"My child, now, though we grieve for him, we must let this man lie dead, in the way he first was killed through the gods’ designing. Accept rather from me the glorious arms of Hephaistos, so splendid,Show MoreRelatedAn Analysis Of Homer s Iliad Achilles 948 Words   |  4 PagesHomer’s Iliad, Achilles is one of the most despised characters in the book, however, he and his infamous wrath is still discussed thousands of years later. Americans even uses the phrase â€Å"Achilles Heel† to describe a weakness in spite of overall strength. Achilles’ arrogance, attention seeking, and sociopathic behavior has earned him all the honor, glory, and power. So I ask, does the great warrior of Achaean, Achilles, deserve to be honored or dishonored? In the beginning of Homer’s Iliad to theRead MoreThe Epic Of The Iliad1019 Words   |  5 PagesThroughout the epic of the Iliad, there are a multitude of moral lessons. It is a story of war, loss, love, and forgiveness. The main character, Achilles, faces many difficult decisions where he is faced with discerning what is right and what is wrong. This is the focus of the epic in whole, but there is a definite emphasis on morality in Book 24. In this book, not only does Achilles face this struggle, but Priam as well. The vision of morality that emerges from the Iliad is understanding the importanceRead MoreThe Iliad And The Odyssey1498 Words   |  6 PagesAn Influential Poem The Iliad is a poem that provides important stories with insight into early human society. It was an ancient story written centuries ago about two civilizations that battled against each other. â€Å"The Iliad tells the story of the clash of two great civilizations, and the effects of war on both the winners and losers† (Homer 222). In addition to its influence on Greek poetry, the Iliad is a great Homeric epic that has long helped shape critical schools of thought. It is notRead MoreThe Iliad Vs. Troy1692 Words   |  7 PagesSlater Poem vs Film The Iliad vs â€Å"Troy† Achilles and Hector fighting with Athena and Apollo on both sides of the Warriors Introduction Written by the ancient Greek poet, Homer, The Iliad was an epic documented on the nearly 10-year long war between the Trojans and the Greeks. Although the epic had occurred in 1194–1184 BC, the epic was passed down through generations, orally, until Homer wrote the Iliad 500 years after the Trojan war in 750 BC. An adaptation of the Homers’ Iliad is David Benioff’sRead MoreIliad and Achilles Speech849 Words   |  4 Pagesmodern society, it can also be seen in the times of Homer, particularly in the great Greek epic, the Iliad. This distinct pattern can be seen in Achilles, one of the most vital characters in the story. Achilles, being the ultimate most powerful warrior of all time, wishes for nothing in his life but to be the most glorious man alive, mortal or immortal. It is this profound desire for glory and honor, that in the end leads to his demise. Achilles speech, given while he is distraught over the deathRead MoreComparison Between The Odyssey And T he Iliad1068 Words   |  5 PagesOdyssey, the author Homer describes an outcry against death; whereas in the Iliad death is portrayed as an accomplishment., Both were in the times that is also known as Before Common Era, or BCE. It is known that Iliad begins 10 years before the great Seige of Troy and eventually the odyssey had begun a couple years after that(Classical Lit). When Homer had written these novels it is clear that they have numerous lines, and Homer had written both. In the novel The Iliad it consists of fifteenRead MoreThe Iliad Or The Poem Of Force1472 Words   |  6 PagesIn her essay, The Iliad or The Poem of Force, Simone Weil argues, â€Å"The true hero, the true subject matter, the center of the Iliad, is force,† (152). â€Å"Force† is defined as, â€Å"that x that turns anybody who is subjected to it/ into a thing,† (153). Weil perceives force as an active entity that is capable of profound, negative, influences on the lives it touches (153). For a hero, force replaces his rational sensibilities by an uncontrollable urge to slaughter his opponent in an animalistic fashion,Read MoreAnalysis Of Homer s The Iliad 899 Words   |  4 PagesHomer s poem The Iliad is a prime example of your protagonist and antagonist going against each other, With one main character Achilles fueled by his all consuming wrath and need for vengeance, and the other main character Hektor fueled by his obligation and desire to guard his city and protect his family. Homer s Iliad has been open to several different interpretations and different versions have circulated even in Greek art. The Harvard Collection has a vase in it that tells a similar but veryRead MoreThe Trojan War1487 Words   |  6 Pagesa large role in the Iliad. I was shocked to learn that the majority of the history of the Trojan War involves the Gods. In my opinion, it seems very unbelievable. According to homer, people believed in Zeus, Hades, Apollo, Poseidon, and the other Gods. Something I don’t understand is how people actually believe homers account of the Trojan War. The Iliad had so many parts where the Gods were directly involved the war between the Trojans and the Greeks. Almost none of Homers accounts of the GodsRead MoreCompare And Contrast Achilles And Aeneas1263 Words   |  6 PagesGilbert DWC 101: Paper 1 11/01/2017 Heroes of Opposing Audiences A comparison of Homer’s Achilles and Virgil’s Aeneas brings up the question concerning what makes someone an epic hero. Although each poet lived in a dramatically different time period, with different literary integrity, Homer and Virgil each portray an epic hero using different development of the characters, but similar themes and influences. Achilles and Aeneas demonstrate that an epic hero will do whatever it takes to fulfill their duties