Cri Du Chat Syndrome And Causes Biology Essay

Cri Du Chat Syndrome And Causes Biology Essay Most cases of Cri-du-chat syndrome are not the result of an inherited problem. Cri-du-chat syndrome result from a deletion in the DNA molecule that makes up a chromosome. In most cases, this chromosome break will occur in the developing egg or sperm. When this gamete is fertilized, the child will develop cri-du-chat syndrome. The parents, however, do not have the break themselves in any of their other cells. In fact, the break is usually such a rare and random event that it is very unlikely to happen again if the parent has another child. Thus affected people typically have no history of the disorder in their family. Nevertheless, it is possible for a child to inherit a broken chromosome from a parent who also had the disorder. About 10 percent of individuals with Cri-du-chat syndrome will inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder. It is estimated that most  cri-du-chat syndrome  cases are the result of de novo deletions (about 80%), some derive from a familial rearrangement (12%), and only a few show other rare cytogenetic aberrations, such as mosaicism (3%), rings (2.4%), and de novo translocations (3%). Gene(s) responsible or implicated in the disorder Cri-du-chat syndrome is quite a rare disorder. It was first identified by the geneticist Jerome Lejeune in 1963 who also discovered the genetic abnormality that causes Down syndrome. Cri-du-chat syndrome is the result of a genetic deletion on chromosome 5. It is believed that this disorder is the result of a faulty mechanism during the development of the egg or sperm. Curiously, in 80 percent of the cases, the chromosome carrying the deletion comes from the fathers sperm rather than the mothers egg. When deletions occur during the formation of an egg or sperm, it is caused by unequal recombination during meiosis. Recombination normally occurs between pairs of chromosomes during meiosis while they are lined up at the metaphase plate. If the pairs of chromosomes dont line up correctly, or if the chromosome breaks arent repaired properly, the structure of the chromosome can be altered. When unequal recombination occurs at this location on chromosome 5, it causes cri-du-chat syndrome. Generally, (80-85%) are due to sporadic de novo deletion of 5p (15.3 à ¢Ã¢â‚¬  Ã¢â‚¬â„¢ 15.2). Approximately 10-15% of cases are the result of the unequal segregation of the parental translocation in which the 5p monosomy is often accompanied by a trisomic portion of the genome. The phenotypes in these individuals may be more severe than in those with isolated monosomy of 5p because of this additional trisomic portion of the genome. In most cases they involve terminal deletions with 30-60% loss of 5p material. Fewer than 10% of patients have other rare cytogenetic aberrations (eg, interstitial deletions, mosaicisms, rings and de novo translocations).   A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation and passing this on to the baby. The occurrence of mosaicism is also a very rare finding, with frequency estimated at about 3% of patients. Chromosomal mosaicism involves a cell line with a 5p deletion and a cell line with a no rmal karyotype or a 5p deletion with  rearranged cell lines Genotype-phenotype studies in  cri-du-chat syndrome  led to the identification of two separate chromosomal regions, hemizygosity that is associated with specific phenotypes. A deletion of 5p15.3 results in the manifestation of a catlike cry, whereas a deletion of 5p15.2 results in the presentation of the other major clinical features of the syndrome. Moreover, a region for speech delay in 5p15.3 has been identified. Population genetics Cri-du-chat is one of the most common syndromes caused by a chromosomal deletion. It affects between 1 in 20,000 and 1 in 50,000 babies The name of this syndrome is French for cry of the cat, referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, one of the many symptoms associated with this disorder. It usually becomes less noticeable as the baby gets older, making it difficult for doctors to diagnose cri-du-chat after age two. Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm of chromosome 5. Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes known to be involved is TERT (telomerase reverse transcriptase). This gene is important during cell division because it helps to keep the tips of chromosomes (telomeres) intact. This disorder does not seem to be influenced by race or age of the mother. However, a significant female predominance is observed in affected newborns, with a male-to-female ratio of 0.72:1. Clinical features Babies with cri-du-chat usually are small at birth, and may have respiratory problems. Often, the larynx doesnt develop correctly, which causes the signature cat-like cry. The characteristic cry is perceptually and acoustically similar to the mewing of kittens. This unusual cry is due to both structural abnormalities of the larynx laryngeal hypoplasia and to CNS dysfunction. The appearance of the laryngeal may be normal or may exhibit a range of anatomical abnormalities such as floppy epiglottis, small larynx, and asymmetric vocal cords. However, the cause of this characteristic cry cannot entirely be ascribed to the larynx. It seems that a problem in the brain development most likely at the cranial base play a role in the development of the signature cry of the syndrome. This cat like cry is not a permanent feature, indeed, it usually disappears over time. Furthermore, distinctive external features are generally present too. Patients may have microcephaly, an unusually round face, widely set eyes, a small chin, folds of skin over the eyes, and a small bridge of the nose. There are also several problems that occur inside the body too. A small number of children are born with heart defects, muscular or skeletal problems, hearing or sight problems, and/or poor muscle tone. As they grow, people with cri-du-chat usually have difficulty walking and talking correctly. They may have behavior problems (such as hyperactivity or aggression), and severe mental retardation. If no major organ defects or other critical medical conditions exist, life expectancy is normal. Indeed, with contemporary interventions, the chance of survival to adulthood is possible. Currently, the mortality rate of cri-du-chat syndrome is 6-8% in the overall population. Pneumonia, congenital heart defects, and respiratory distress syndrome are the most common causes of deat h. Pathogenesis (if known) There is no known risk factors that can contribute to the development of this disorder. Doctors most often identify cri-du-chat by the infants cat-like cry. Other signs are microcephaly, poor muscle tone, and mental retardation. However, it is possible to test for cri-du-chat (and other chromosomal abnormalitites) while the baby is still in the womb. There are two ways of doing so. Doctors can either test a tiny sample of tissue from outside the sac where the baby develops (chorionic villus sampling (CVS)), or test a sample of the amniotic fluid (amniocentesis). Optional: Other important section(s) for your disorder Although there is no real treatment for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.

Dont Drink and Drive :: Legal Issues, Social Issues, Informative

Topic: Don’t Drink and Drive Specific Purpose: To persuade my audience that action is needed to deal with the problem caused by motorists’ who drink and drive. General Purpose: Solving the problems caused by drinking and driving will require action by friends, family, and law enforcement. Thesis Statement: Drinking and driving not only endanger your life, it endangers the lives of the innocent victims whose path you cross. Introduction: While watching TV one night, a special news report came on. There was a terrible accident in Marshal County involving a drunk driver. Six children were killed in the crash, a man driving a blue sedan had hit head-on with a mini van, carrying six children and their grandmother. All the children were pronounced dead at the scene, the grandmother and the man driving the sedan were the only survivors. Body: A.  Ã‚  Ã‚  Ã‚  Ã‚  Don’t drink and drive, period. 1.  Ã‚  Ã‚  Ã‚  Ã‚  The cemeteries are full of people who thought they were â€Å"Ok to drive† along with the innocent victims whose paths they crossed. 2.  Ã‚  Ã‚  Ã‚  Ã‚  Support law enforcement. 3.  Ã‚  Ã‚  Ã‚  Ã‚  Don’t complain that an officer gave your kid an MIP, DUI, or DWI†¦ thank them. Transitions: Now that we’ve seen how drinking and driving are serious problems for motorists’ and their communities, let’s look at some causes. B.  Ã‚  Ã‚  Ã‚  Ã‚  Ã¢â‚¬Å"It causes the deaths of over 16,000 people in America every year, an average of 44 each day, one every 33 minutes.† Conclusion: â€Å"Drinking and driving and alcohol abuse are claiming the lives of thousands of young people each year. If you critically injure or kill someone after making

Property Management Essay

Introduction Humans are an organization’s greatest assets; without them, everyday business functions such as managing cash flow, making business transactions, communicating through all forms of media, and dealing with customers could not be completed. Humans and the potential they possess drive an organization. Today’s organizations are continuously changing. Organizational change impacts not only the business but also its employees. In order to maximize organizational effectiveness, human potential—individuals’ capabilities, time, and talents—must be managed. Human resource management works to ensure that employees are able to meet the organization’s goals. Human resource management is responsible for how people are treated in organizations. It is responsible for bringing people into the organization, helping them perform their work, compensating them for their labors, and solving problems that arise. The Human Resources Management (HRM) function includes a variety of activities, and key among them is deciding what staffing needs you have and whether to use independent contractors or hire employees to fill these needs, recruiting and training the best employees, ensuring they are high performers, dealing with performance issues, and ensuring your personnel and management practices conform to various regulations. Other activities of HRM also include:. 1. Recruitment and Selection (Staffing). In terms of recruitment and selection it is important to consider carrying out a thorough job analysis to determine the level of skills/technical abilities, competencies, flexibility of the employee required etc. At this point it is important to consider both the internal and external factors that can have an impact on the recruitment of employees. The external factors are those out-with the powers of the organization and include issues such as current and future trends of the labor market e. g. kills, education level, government investment into industries etc. On the other hand internal influences are easier to control, predict and monitor, for example management styles or even the organizational culture. Job analysis is completed to determine activities, skills, and knowledge required of an employee for a specific job. Job analyses are â€Å"performed on three occasions: (1) when the organization is first started. (2) when a new job is created. (3) when a job is changed as a resul t of new methods, new procedures, or new technology. Jobs can be analyzed through the use of questionnaires, observations, interviews, employee recordings, or a combination of any of these methods. Two important tools used in defining the job are: (1) job description, which identifies the job, provides a listing of responsibilities and duties unique to the job, gives performance standards, and specifies necessary machines and equipment; and (2) Job specification, which states the minimum amount of education and experience needed for performing the job Someone (e. g. , a department manager) or some event (e. g. , an employee’s leaving) within the organization usually determines a need to hire a new employee. In large organizations, an employee requisition must be submitted to the HR department that specifies the job title, the department, and the date the employee is needed. From there, the job description can be referenced for specific job related qualifications to provide more detail when advertising the position—either internally, externally, or both. Not only must the HR department attract qualified applicants through job postings or other forms of advertising, but it also assists in screening candidates’ resumes and bringing those with the proper qualifications in for an interview. The final say in selecting the candidate will probably be the line manager’s, assuming all Equal Employment Opportunity requirements are met. Other ongoing staffing responsibilities involve planning for new or changing positions and reviewing current job analyses and job descriptions to make sure they accurately reflect the current position. . Performance Appraisals Once a talented individual is brought into an organization, another function of HRM comes into play—creating an environment that will motivate and reward exemplary performance. One way to assess performance is through a formal review on a periodic basis, generally annually, known as a performance appraisal or performance evaluation. Because line managers are in daily c ontact with the employees and can best measure performance, they are usually the ones who conduct the appraisals.

Analysis Of Henrik Ibsen s A Doll House - 1154 Words

What might sacrifice mean? Is it important? Sacrifice can be defined as an act of immolating someone or something. Will one might think it depends on the person to decide on the importance of the sacrifice? In light of this play, â€Å"A Doll House† written realistically by Henrik Ibsen, he has portrayed many symbols throughout the play. One of the many symbols that stood out was sacrifice. Clothing also symbolized some importance in the play and the Tarantella dance as well. However, what exactly is a symbol? A symbol can be â€Å"a concrete object or a person/image that represents an abstract concept such as life, death, salvation, or hope.† For example, the dollhouse stated in the preface of the play symbolized â€Å"the dependent and dehumanized role of the wife within traditional middle-class marriages† (Ibsen, pg.1486). Including another example, stated by Nwabueze, â€Å"believed that Ibsen used the term ‘a doll’s house’ to re present Nora’s home† (Nwabueze, pg. 22). Additionally, anyone can â€Å"argue that Ibsen used Nora as a symbol for human rights† uniquely throughout the play too (Metzger, 1879). So again, symbolism can be seen vastly throughout the play. Regarding sacrifice as a symbol in the play, Nora sacrifices her identity as a mature woman to play-pretend as a perfect doll for her husband. She even hid eating macaroons from her husband like she was a child. However, the most important sacrifice she made was giving up her rights to save her husband’s life. At theShow MoreRelatedAnalysis Of Henrik Ibsen s A Doll House 1823 Words   |  8 PagesA Doll House is a play that was written by Henrik Ibsen in 1879. Nora Helmer is a wife and mother who secretly loaned money to save her husband’s, Torvald, life. Torvald views and treats Nora has a doll and she goes along with it. As conflict comes and goes Nora decides that her current life is not what she wants for herself. She no longer wants to be anyone’s â€Å"doll† and decides to leave her family in search of independence. This play was controversial during the time it was written becauseRead MoreAnalysis Of Henrik Ibsen s A Doll House 1152 Words   |  5 PagesHenrik Ibsen’s play â€Å"A Doll House† addresses the importance of the roles women play throughout this time period. Women are thought to be like â€Å"dolls† to their husbands, by obeying their commands and keeping a good image. We see the main character, Nora Helmer struggle to keep her perfect image of a great wife as troubles start to arise. Throughout the play we begin to see Nora push through her troubles and find her true identity, Nora shifts from being the loving, perfect wife, to being a strongRead MoreAnalysis Of Henrik Ibsen s A Doll House884 Words   |  4 Pagestransform minor lies such as white lies into something more dangerous. When one works to conceal a lie, a cloud o f deception hangs over those involved and can lead to the destruction of friendships, relationships, and even marriages. In Henrik Ibsen’s A Doll House, he uses the motif of lies and deception to illustrate the fragileness of the Helmer’s marriage, which ultimately leads to its demise. Nora Helmer, a naà ¯ve woman who has never been given the chance to mature into an independent womanRead MoreAnalysis Of Henrik Ibsen s A Doll House995 Words   |  4 Pagesimagining and guiding the integration of all these elements belongs to the director. One of the toughest tasks of a director is to reinvigorate a socially important and renowned production while maintaining its original message and composition. Henrik Ibsen’s A Doll House is a socially important realistic play that portrays the gender dynamics that plagued the nineteenth century and questions the expectations held for women in a household and society. The play is still incredibly influential because the issuesRead MoreAnalysis Of Henrik Ibsen s A Doll House 851 Words   |  4 PagesHenrik Ibsens’s, A Doll House, details the lives of the Helmers, a seemingly perfect couple. As the story progresses from act to act, it becomes quite obvious that their relationship is everything but perfect. Complic ations arise quickly when a forged loan by Nora Helmer is brought to her husband Torvald’s attention. The prejudices women experience, particularly, Nora is a definite tone in this play. Henrick Ibsen does a great job at showing both sides of the oppression of women, particularly withinRead MoreAnalysis Of Henrik Ibsen s A Doll House 1472 Words   |  6 Pages â€Å"A Doll House† Playing many different characters is what Henrik Ibsen’s meant to do in A Doll House. The main characters fool people into believing they are someone other than their true selves. Nora plays her role flawlessly as she pretends to be living two different lives. Nora is Torvalds devoted and self-indulgent wife, but naively enough, she doesn’t realize she is a courageous, self-sufficient women. As the character’s progress so does Nora’s personality, she goesRead MoreAnalysis Of Henrik Ibsen s A Doll House 924 Words   |  4 PagesHenrik Ibsen once wrote a play called â€Å"A Doll House.† Back in 1879 when the play was written there was lots of controversy on whether are not they play should have been showed. It created lots of arguments because of the time that they play was done (Hemmer). In the time frame that Ibsen wrote his play it was a time where women really had no say. Women would listen to their husbands and do as they say. At the end of the original play Nora, the main character, left her husband and her kids. IbsenRead MoreAn Analysis Of Henrik Ibsen s A Doll House1460 Words   |  6 Pagesopposition to the idea of a female president. Traditionalist opposition has women body shamed into the fixed standard of beauty being the skinny Caucasian blonde. People still look down on women in troubled relationships as being their fault. Henrik Ibsen’s A Doll House puts into criticism the problems brought by traditionalism though the story between Torvald and Nora. Where Nora has to keep a secret how she saved her husband’s life to save her marriage, because she fears a woman helping a man would shameRead MoreAnalysis Of Henrik Ibsen s A Doll House Essay1971 Words   |  8 PagesIn Hendrik Ibsen play â€Å"A Doll House† Nora is a women who had typical women gender role in the 19th century to take care of the children and the home so that she can please her husband while her husband handles all the outs ide business and money as the primary care taker. Nora has always lived with a man that took care of her and told her what to do. Nora completely accepted her expectations and â€Å"conditions of the world in which she live† as Torvald put it, because she never had the opportunity toRead MoreAnalysis Of Henrik Ibsen s A Doll House Essay981 Words   |  4 Pagestraditional stereotypes, men are strong and dominant, while women are weak and submissive. There are moments in the person’s life when men do not appreciate their wives and go across their limits. This view sounds a lot like what Henrik Ibsen wrote about in his play, A Doll House. Ibsen presented gender roles through social roles, identity and marriage. This factors affect how the characters in the play are viewed by society. Althouth gender roles have changed over time and males and females have become more