Down syndrome - Symptoms and causes - Free Essay Example

Sample details Pages: 4 Words: 1090 Downloads: 2 Date added: 2019/08/08 Category Medicine Essay Level High school Tags: Down Syndrome Essay Did you like this example? Genetics Genes play an important role in life reproduction. The inheritance of specific chromosomes can increase the likelihood for many problems or diseases. Health care has conducted enough research to estimate the probability of genetic mutations that can cause developmental disabilities. Don’t waste time! Our writers will create an original "Down syndrome Symptoms and causes" essay for you Create order Genes serve as blueprints to influence body structure and composition (McCance Huether, 2014). Any error in genetic imprinting can lead to a recognizable genetic disease (McCance Huether, 2014). Gene make up has two perspectives such as phenotype is the outward appearance and genotype the genetic sequencing (McCance Huether, 2014). There are many genetic illnesses that have been identified and categorized. Pediatric patients with genetic diseases compromise one-third of the total population (McCance Huether, 2014). Down syndrome Discovering diseases related to genetics has become a priority for early treatment and reduced long-term risks. Genetic screening tests are now available to identify specific gene mutation diseases (McCance Huether, 2014). Trisomy disorders can occur at any chromosome at time of conception (McCance Huether, 2014). The most common type of trisomy is of the twenty-first chromosome being the main cause for Down Syndrome (DS). Normal fetus development contains 46 chromosomes. Down Syndrome is defined by an extra pair of chromosome 21 (Centers for Disease Control and Prevention, 2018). The extra copy causes an altered mutation on the brain and physical development that can lead to life challenges. Prevalence of the disease is seen in 1 of 800 births (McCance Huether, 2014). The disease affects Intelligence Quotient (IQ) to lower scores between 25 and 70 (McCance Huether, 2014). Physical appearance can be affected by causing altered nose bridge and low flat ears. There is a slower response due to muscle tone irregularities. Patients born with DS have a large risk of also having congenital heart defects; causing an increased risk for respiratory infections (McCance Huether, 2014). Prevalence of Down Syndrome increases with the older age of the pregnant mother (McCance Huether, 2014). Older pregn ant mothers run a higher risk due to the age of maternal cells that were created at birth and waiting to be used for years Symptoms at an older than age 40 resemble patients with Alzheimers Disease as it affects chromosome 21 (McCance Huether, 2014). Spontaneous miscarriages and stillbirths are directly associated with genetic diseases such as DS (McCance Huether, 2014). Infants that are born with DS have a 20% chance of death during the first 10 years of life; long-term life expectancy is age 60 (McCance Huether, 2014). Screening tests have been developed to detect the possibility of genetic mutations during pregnancy. An amniocentesis draws a small amount of amniotic fluid usually at 16 weeks when there is a high risk of chromosome abnormalities suspected (McCance Huether, 2014). The test is recommended for women at an advanced maternal age or couples who have a previous risk for genetic disease. Routine prenatal screening blood tests help determine if there is a risk ultrasound helps determine if there is extra fluid accumulation around the neck. There is a possibility for tests to be negative and still have a chance of DS (). Communication Difficulties Children born with DS can develop problems swallowing and communicating effectively (Meyer, Theodoros, Hickson, 2017). Speech Language Pathology (SLP) specializes in disorders that affect the ability of patients to develop speech (Meyer, Theodoros, Hickson, 2017). Due to the incidence of DS there is great need to increase SLP services to help with developmental disabilities children born with DS encounter. Communication ability of DS depends on the development stage of the patient. Other pathological conditions can greatly affect communication such as impaired hearing. There is also a possibility that children can develop an early onset of dementia. In the study Down Syndrome children were provided speech therapy during a course of a year to improve communication outcomes. The study found that most children diagnosed with DS greatly benefit from family involvement with speech therapy and should be a service immediately provided to assess the needs of the patient (Meyer, Theodoros, Hickson, 2017). Improving Physical and Function Mobility Muscle development is greatly affected in patients with DS. Reduced physical fitness capacity, muscle strength and abnormal body composition decreases mobility function of children born with DS (Silva et al., 2017). The goal of the study was to improve physical functioning to reduce long term limitations associated with poor muscle coordination in patients who had been diagnosed with DS (Silva et al., 2017). A total of 27 adult patients diagnosed with DS were included in the study to participate in a Wii based exercise program to improve motor function during a 2-month course (Silva et al., 2017). Patients were conducted an assessment to evaluate physical functioning and develop a plan to improve coordination. After the 2-month evaluation participants greatly improved coordination levels with low impact exercises provided by coordinating technology with physical movement that also incorporates positive reinforcement (Silva et al., 2017). Visual interactive technology reduces the risk of harm from traditional exercise equipment and allows brain functioning to coordinate with patient physical movements (Silva et al., 2017). Breathing and Cognitive Function Sleep cycles affect childrens cognitive development. Patients with DS are at risk for sleep disruption patterns that affect breathing (Joyce Dimitriou, 2017). Sleep is vital for children brain development and cognitive functioning (Joyce Dimitriou, 2017). An estimated 20-30% of children diagnosed with DS experience sleep disturbance (Joyce Dimitriou). The study evaluates children who have sleep disorders related to DS. Sleep Disordered Breathing (SDB) includes a range of symptoms such as snoring, sleep apnea; fragmented sleep patterns with obstructed airways cause a decreased amount of oxygen available for circulation to tissues (Joyce Dimitriou, 2017). Children who are born with abnormalities in airway have an increased risk for Upper Respiratory Infections (URI) (Joyce Dimitriou, 2017). The study measured 22 preschoolers diagnosed with DS who were concurrently exhibiting sleep disturbance patterns. Cognitive function greatly declined during school hours for children with limit ed sleep. Children diagnosed with DS having sleep patterns greatly benefit from therapy to help improve and rule out pathology associated with lack of sleep (Joyce Dimitriou, 2017). Sleep studies help providers create a treatment plan for possible sleep apnea to improve functioning. Down Syndrome can be a life-altering diagnosis for a newborn. Prenatal testing can estimate the probability of a child born with the genetic disease. Parents of children from families that carry a higher incidence are recommended to do additional screening. Children born with DS can function as adults and many treatment options are available to improve the quality of life. Many adults with DS can carry an independent lifestyle. Genetic science has opened many windows to identify specific gene mutations and diagnosed with developmental disabilities. Parents of children born with DS have a long journey ahead with learning to live with a child who requires additional health services and different learning capabilities.

The Wanderer And The Tempest Analysis - 1801 Words

The passage of time is intrinsically connected to every aspect of life, as it is the construct through which we understand human experiences and the framework through which we comprehend our existence. The essence and effects of temporality reverberate through narratives; acting as a catalyst for action, or becoming an impediment to the future. Through the response that characters in The Wanderer and The Tempest have towards the transience of time, it becomes clear how these effects echo throughout the narrative, prompting these events into movement, and how they seep throughout every aspect of these texts. There are a seemingly endless assortment of opinions concerning the structure of The Wanderer; every critic has their own†¦show more content†¦Of course this belief also holds much credence through a definite structural and character balance created by following this interpretation. To have a lost man, who has nothing to his name find salvation and comfort in the authors religion and eventually gain wisdom from nothing but this is a powerful point. Wita sceal geà ¾yldig, ne sceal no to hatheort ne to hrà ¦dwyrde, ne to wac wiga ne to wanhydig, ne to forht ne to fà ¦gen, ne to feohgifre ne nà ¦fre gielpes to georn, à ¦r he geare cunne. (65b-69b) In lines 65b-69b we read a list of rules that a warrior must abide in to become clear in sight. A wise man must be patient, He must never be too impulsive nor too hasty of speech, nor too weak a warrior (65b-69b) The Wanderer, by speaking of all his pains, is going against what his society tells him is acceptable to be wise. Huppà © argues that â€Å"the wanderer utters his sorrow but retains his dignity through the anonymity which the impersonal discourse gives his personal expression of grief.† Huppà © would argue that the reasoning behind this change from personal to impersonal discourse allows the Wanderer a separation from his own problems, treating his own laments as the laments of all, allowing him to feel content that he may still be clear sighted in the face of his tribulations. While it is entirely possible thatShow MoreRelatedIgbo Dictionary129408 Words   |  518 Pagespalatalized consonant. It is not, however, a conclusive argument against the /b/ plus /y/ interpretation, for it can be argued that only the first consonant of a cluster is reduplicated. 3. The palatalized consonant solution draws a parallel with the analysis of kw, gw, etc., as single labialized consonant s. But their behaviour is not parallel; thus á »â€¹kwà   (to push) has the imperative kwà  a (and not *kà ¹Ã¯â‚¬ ¨a) and the gerund à ²Ã¯â‚¬ ¤kwà ¹Ã¯â‚¬ ¨kwà   (and not *à ²Ã¯â‚¬ ¤kà ¹Ã¯â‚¬ ¨kwà  ). Again, this is not an argument against the cluster interpretation

Bending Moment Intro free essay sample

A bending moment is simply defined as â€Å"the algebraic sum of the moments of all the forces which induces bending of an element† (1). The aim of this assignment is to work out the bending moment in a simply supported beam when different concentrated loads are applied to it. A simply supported beam is a structure, usually with a straight profile supported at the ends, often pinned on one side and simply supported or on a roller on the other. There will be three series of loads applied to this beam the findings will be recorded. The results will then be compared with the theoretical bending moment the reasons for any variation explained. The main reason for the experiment to be conducted is to examine, not only the accuracy of the testing equipment, but also the accuracy of bending moment calculations and diagrams compared to a real-world assessment. It will hopefully prove that â€Å"the bending moment at a cut section is equal to the algebraic sum of the moments acting to the left or right of the section†. We will write a custom essay sample on Bending Moment Intro or any similar topic specifically for you Do Not WasteYour Time HIRE WRITER Only 13.90 / page (2) After this introduction, there will be a little background information about this experiment and its apparatus, followed by a breakdown of the experimental procedure. Then, there will be the displayed results before a comparison with the theoretical results that have been calculated. Finally, while the conclusions are made, I will attempt to explain the reasons for any discrepancy and state how I would improve the process. (1)The Science Dictionary (2012) http://thesciencedictionary. org/bending-moment/#ixzz2uKaWzF9e (Accessed: 26/02/14) (2)Momade, H (2011) Shear Force, Bending Moment, Deflection in beams Strut Apparatus Test http://www. academia. edu/3671106/shear_forc e_bending_moment_deflection_beams_strut_apparatus_test (Accessed: 27/02/14) Background/Theory When a force is applied perpendicularly to a point at a given distance away from that point, the rotational force that occur is called a moment. â€Å"It is calculated as the perpendicular force multiplied by the distance from the point. A Bending Moment is simply the bend that occurs in a beam due to a moment. † (4) This moment is measured in Newton-meters (Nm) and anti-clockwise bending is positive. The bending moment of a beam is the resultant turning moment due to all the forces acting on one side of the point. The beam is in equilibrium with the application of these forces and its reactions as it is not moving. (3) â€Å"A beam is a member or bar subjected to forces that act perpendicular to its longitudinal axis†. (1) In engineering, one of the most important mechanical and structural elements is the beam. Some of the factors that need to be considered during the beam design process include the load to be supported, the type of structure, the strength and stresses involved in the beam, the type of structure, as well as others. When a load is applied to a beam, it develops a shear force bending moment that will vary along it. This experiment is solely to work out bending moments; therefore I will focus my research thusly. Finding this moment is an essential step in the design of any beam. There are several types of beam including simply supported, cantilever and overhanging, however this experiment will deal wholly with a simply supported beam. A beam that has pin support at either ends, or a pin at one end and a roller support at the other is called a simply supported beam. The pin support is capable of developing a force reaction in its horizontal and vertical components, but it cannot develop a moment reaction. The roller support cannot resist horizontal force, only vertical. This beam is used specifically for testing loads and has a split down it which is connected to a spring load gauge, which takes the slack and is used for measuring the force applied. (3) The type of load we will be applying to the beam will be concentrated. This means the load will be applied at a specific point rather than the weight distributed across the beam. Finally, when an experiment such as this is undertaken, or when calculating a theoretical bending moment, a few assumptions have to be made: 1. â€Å"The beam is initially straight, that is, no initial curvature in the beam. 2. The material of the beam is homogeneous, that is, it possesses same physical properties throughout the volume. 3. The material of the beam is isotropic, that is, its elastic constants do not vary throughout its volume. 4. Young’s modulus of the material in tension Et is the same as Young’s modulus in compression EC. 5. The elastic limit of the material ? e is not exceeded, that is, stresses in the material at any section at any layer do not exceed ? e, in other words when bending moment is removed from the beam, it comes back to its original shape and original dimensions. † (2)

Literary Tools, Language, and Thematic Ideas free essay sample

In A Perfect Day for Bananafish, by JD Salinger, The Unclouded Day, by E. Annie Proulx, and White Angel, by Michael Cunningham, the authors use literary devices and language to connect specific themes of Modernism with the advancement of the stories’ plots and characters. They exploit concrete literary devices such as diction, foreshadowing, foils, allegory, flashbacks, and symbolism. These devices emphasized distinct Modernist themes throughout the stories including, the search for an individual place in a vast universe, the loss of childhood innocence, the search for one’s inner self, traditional values vs. modern values, rejection of an outdated social era, and the search for ways to deal with the absurdities of life. JD Salinger conveys Modernist themes, like the search for an individual place in a vast universe and the loss of childhood innocence, in A Perfect Day for Bananafish, through the use of diction and foreshadowing. For example, in the story a line in the text reads, â€Å" ‘Did you see more glass?’ said Sybil† (Salinger, 15). We will write a custom essay sample on Literary Tools, Language, and Thematic Ideas or any similar topic specifically for you Do Not WasteYour Time HIRE WRITER Only 13.90 / page The author’s use of the provocative and risky S sound is purposely intended to flow together, mysteriously hinting at the characters motifs. By choosing words with the S sound, like â€Å"Seymour†, â€Å"Sybil†, â€Å"see†, â€Å"glass†, etc., it conveys a luring tone drawing the reader in to the advancement of the plot and leaves one wondering how Seymour Glass cannot grasp a life without innocence. The use of foreshadowing also helped to illuminate the themes when, for example, Seymour is explaining to Sybil the outcome of his imaginary â€Å"bananafish†. â€Å" ‘Well, they swim into a hole where there’s a lot of bananas. They’re very ordinary-looking fish when they swim in. But once they get in, they behave like pigs†¦Naturally, after that they’re so fat they can’t get out of the hole again†¦Well, I hate to tell you, Sybil. They die† (Salinger, 23). Seymour’s explanations are clue s that suggest how Seymour himself has behaved in the past and the search he is on for his individual place in the world, foreshadowing his future. Seymour is normal before the war, but once he enters it, like the bananafish do the hole, he gorges himself on horror and loss which leaves him unable to get out of that state of mind and emotionally unable to connect back to society. Ultimately, Salinger connected two literary tools to themes of Modernism in order to keep the plot progressing and in the end Seymour receives the same fate as the bananafish: death. E. Annie Proulx depicted Modernist themes, such as the search for one’s inner self and traditional values vs. modern values, in The Unclouded Day, through the use of foils and an allegory. For example, Earl is the secondary character that acts as a foil for the main character, Santee when he rationalizes his â€Å"kill† in hunting by saying, â€Å" ‘I saw right where they went down†¦but that dog of yo urs†¦ ‘This is the parting of our ways’ [Santee] said. ‘I can take a good deal, but I won’t have my dog called down’ † (Proulx, 99-100). This foil helps to illuminate Santee’s search for his inner self when he realizes he is beating himself up to be with exactly the kind of person he disagrees about. Earl is ungrateful, impatient, and tries to learn tricks of the trade that simply can’t be taught- something Proulx purposefully introduced to advance the contrasting characters to the story’s conclusion. The use of an allegory also emphasized the theme of traditional vs. modern values when Santee â€Å"longed for the cold weather and unclouded days that lay somewhere ahead†¦Ã¢â‚¬  (Proulx, 89). Santee knew he had to go through an obstacle to get to happiness and the life he is comfortable with. In the end, he finally stands up for what he believes in and for his dog (which represents traditional values). He gets wh at he wanted and Earl (the cloud covering his happiness) is removed from the equation. Michael Cunningham illustrated Modernist themes, such as the search for ways to deal with the absurdities of life and the rejection of an outdated social era, in White Angel, by enforcing the use of flashbacks and symbolism. For example, the story is told in a first person point of view from Frisco/Bobby Morrow, looking back into his past. â€Å"We lived then in Cleveland, in the middle of everything†¦This of course is history† (Cunningham, 25). The author’s choice of words/phrases like, â€Å"I made no move without his council† (Cunningham, 25) and â€Å"I will go out and stand where he would have been standing† (Cunningham, 32)- speaking of Frisco’s late brother Carlton, helps to emphasize that times have changed and they’re no longer in the 60’s. This is important because the use of these time-play words suggest to the reader that something must have happened to make Frisco reject that social era and tell the story as a flashback. Within the manipulation of time in this story also lies another literary device: symbolism. For example, one year after Carlton’s death, Frisco’s dad gets up in the middle of the night for water and Frisco says, â€Å" ‘Maybe you better come back to bed. O.K.?’ ‘Maybe I had,’ [Frisco’s dad] says. ‘I just came out here for a drink of water, but I seem to have gotten turned around in the darkness. Yes, maybe I better had’ † (Cunningham, 33). This shows that his dad had gotten turned around in the darkness not only literally, but metaphorically in life. This is important because Carlton had taken drugs in the 60’s to expand his mind, yet his parents minds did the opposite after his death; making apparent their search for ways to deal with the absurdities of life. As a result, the themes in this story are brought about by t he literary tools that helped advance Frisco’s personal conclusion; â€Å"At least [Carlton’s girlfriend] had protected herself by trying to warn him† (Cunningham, 33). A Perfect Day for Bananafish, by JD Salinger, The Unclouded Day, by E. Annie Proulx, and White Angel, by Michael Cunningham, all contained literary devices and specific language that the authors used to connect specific themes of Modernism with the advancement of the stories’ plots and characters. All three stories involve unique literature and thematic ideas that only could have been brought to one’s attention with the connections the author’s made in order to progress the characters and plots to their conclusions which all ended with a â€Å"boom†.