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Fragile X syndrome also known as Martin-Bell syndrome
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Introduction
Fragile X syndrome also known as Martin-Bell syndrome is a HYPERLINK “http://en.wikipedia.org/wiki/Genetic_disorder” o “Genetic disorder” genetic HYPERLINK “http://en.wikipedia.org/wiki/Syndrome” o “Syndrome” syndrome usually considered as the most commonly inherited mental disorder HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Randi+Jenssen+Hagerman%22&source=gbs_metadata_r&cad=12” (Hagerman, & HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Paul+J.+Hagerman%22&source=gbs_metadata_r&cad=12” Hagerman, 2002). It results from mutation or a change in a single trinucleotide gene on the X chromosome leading to abnormal neural development since the protein coded by the fragile X mental retardation 1 gene can not be expressed. The syndrome is characterized by a wide range of intellectual and physical limitations as well as behavioral and emotional aspects ranging from mild to severe symptoms. According to Upner (2007) the most consistent and conspicuous effect of this syndrome is on the intelligence of the affected. For instance, more than three quarters of the affected males have a low IQ of about 75 or less. This is however varied in females where the affected may have low or normal IQ. Fragile X can therefore be easily transferred across different families irrespective of class or ethnicity and also passed from generation to generation through genetic inheritance (Upner, 2007).
Cause of Fragile X Syndrome
As mentioned above, Fragile X Syndrome is a genetic disorder usually caused by a change or mutation of the fragile X mental retardation 1 gene found on the X chromosome. It is noteworthy that genes usually contain information needed for making of at least a single protein code (Upner, 2007). When changes occur in the genes, the cells may not be able to make the proteins or even provide a form of protein required by the body. The failure of fragile X mental retardation 1 gene to make normal quantities of usable Fragile X Mental Retardation Protein (FMRP) causes Fragile X disorder. The severity of the disorder is determined by the amount of FMRP in the body. Fragile X syndrome is severe in circumstances where such proteins are insufficient in the body and mild when normal levels of the proteins are present. The gene activity level in structuring of FMRP in the body is usually controlled by the repeats of a cytosine-guanine-guanine (CCG) sequence contained in the promoter region of the FMR1 gene. The number of CCG repeats vary among different people with the normal beings having an average of thirty CCG repeats ranging from 6-55 repeats while individuals having Fragile X syndrome have even more than 200 repeats. Basically, the more than 200 CCG repeats inactivates genes through a process called methylation hence cells are unable to make the FMRP.
Inheritance patterns
Due to the fact that both females (XX) and males (XY) have at least an X chromosome, they can therefore pass on to their offspring the mutated gene. Upner (2007) argues that this is possible since Fragile X gene is carried on the X chromosome. If a father has an altered X chromosome and the mother has normal X chromosome, all the sons would be free from genes for Fragile XZ while all the couple’s daughters would have the altered Fragile X genes as illustrated in the diagram below. A father can only pass an altered gene to a daughter and not son since the Fragile X gene is only carried on the X chromosome (Upner, 2007).
Father
Y XFragile
Mother
X Boy
XY Girl
XXFragile
X Boy
XY Girl
XXFragile
Fathers can only pass on the premutation form of the FMR1 gene to their daughters even if they have full mutation. This implies that a daughter will only get a milder form of Fragile X upon inheriting a mutated FMR1 gene from her father. On the other hand, mothers can pass on Fragile X genes to either daughter or sons since she is only able to pass on single X chromosome.
Symptoms and recognition of Fragile X Syndrome
Even though different individuals with Fragile X disorder present different symptoms, they usually share a set of social, physical, sensory as well as mental characteristics due to the little amount of FMRP in their cells (Upner, 2007). Generally, the signs and symptoms of Fragile X disorder are categorized into five main groups namely; physical, sensory, social and emotional, intelligence and learning as well as speech and language (Upner, 2007). For instance, many people with this disorder have impaired mental functioning hence their ability to think, reason, as well as learn is highly affected. An intelligence Quotient test is used to determine the intelligence levels of individuals suffering from Fragile X syndrome. According to researchers the IQ of such individuals is always 75 or less unlike normal beings whose IQ range from 85 and 115. Physically, individuals with Fragile X syndrome have unique characteristics including longer jaw or face and larger ears HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Randi+Jenssen+Hagerman%22&source=gbs_metadata_r&cad=12” (Hagerman, & HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Paul+J.+Hagerman%22&source=gbs_metadata_r&cad=12” Hagerman, 2002). They are always shorter than their peers. Moreover, macro-orchidism is exhibited among affected individuals at puberty. This entails the enlargement of male testicles among individuals with Fragile X disorder. The affected children suffer from social anxiety hence may even attempt to avoid social situations. They feel nervous and uncomfortable in the company of others. Besides, males with Fragile X are easily upset by sounds and sights.
Treatment of Fragile X Syndrome
Currently, there is no single definitive treatment for Fragile X despite proposal of several medications for the disorder. However, there are three basic options for treating the disorder. These options include medication options, educational options, as well as therapeutic options HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Randi+Jenssen+Hagerman%22&source=gbs_metadata_r&cad=12” (Hagerman, & HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Paul+J.+Hagerman%22&source=gbs_metadata_r&cad=12” Hagerman, 2002). To begin with, individuals with Fragile X disorder in their family tree may be subjected to genetic counseling in an attempt to assess the possibility of bringing forth affected children as well as the severity of the offspring (Hughes, 2004). A special and free education is also guaranteed to children with Fragile X syndrome from the age of three according to the existing Federal laws in the U.S. The children with disabilities are able to learn with ease as the learning facilities are made available under the Individuals with Disabilities Education Act of 1997(Hughes, 2004)
Finally, professionals can also help individuals with Fragile X syndrome and their families tackle the symptoms of the disorder. Therapeutic assistance is best provided by health care experts such as occupational therapist who would teach the family of the affected child on how to adjust conditions as well as tasks to suit the desire and ability of an individual (Hughes, 2004). For instance, parents of the affected child may be taught on how to massage their patient to calm her down. Corrective heart surgery as well as ADHD medications can also be used in the treatment of FXS HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Randi+Jenssen+Hagerman%22&source=gbs_metadata_r&cad=12” (Hagerman, & HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Paul+J.+Hagerman%22&source=gbs_metadata_r&cad=12” Hagerman, 2002).
Life expectancy of Fragile X syndrome
Generally, there is no concrete evidence on the impact of Fragile X disorder on the affected individuals. The life expectancy however varies from one person to another depending on the severity of the condition. Patients with Fragile X Syndrome will have a normal life expectancy for the most part. Such mutation leads to the failure by the aforementioned gene to make normal amounts of FMRP in the cell (Upner, 2007).
Conclusion
Fragile X Syndrome is a genetically inherited disorder characterized by intellectual and physical limitations as well as behavioral and emotional features ranging from mild to severe symptoms. It results from mutation of a fragile X mental retardation 1 gene found on the X chromosome. The Fragile X gene is carried on the X chromosome and may therefore be passed on to the children from the parents as explained above. The Syndrome presents varied signs and symptoms including HYPERLINK “http://en.wikipedia.org/wiki/Fragile_X_syndrome” l “Physical_phenotype” social anxiety, mental retardation, hypersensitivity as well as physical characteristics. The disorder has no specific cure but can be treated through medical options, therapeutic options as well as education options. All the three options help the affected and their families in managing the symptoms of the disorder. Finally, it is worth noting that the disorder has no impact on the life span of the affected individuals. However, the severity of the disorder may cause the variance of life expectancy from one person to the other (Upner, 2007).
Reference list:
HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Randi+Jenssen+Hagerman%22&source=gbs_metadata_r&cad=12” Hagerman, R. & HYPERLINK “http://www.google.co.ke/search?tbs=bks:1&tbo=p&q=+inauthor:%22Paul+J.+Hagerman%22&source=gbs_metadata_r&cad=12” Hagerman, P. (2002). Fragile X syndrome: diagnosis, treatment, and
research. 3rd Ed. Maryland: JHU Press.
Hughes, D. (2004). Educating children with fragile X syndrome: a multi-professional. New
York: Routledge.
Upner, J. (2007). New Research on Fragile X Syndrome. New York: Nova Publishers.
FoxMayer Case
FoxMayer Case
Author
Institution
One of the key actions taken by the management of FoxMeyer was poorly selecting the software for its needs. The SAP R /3 software was not flexible with the requirements of the company since it was initially designed for manufacturing companies and not wholesalers that were engaged in handling vast number of transactions. The management failed in the selection of the software since the R /3 software was only capable of handling 10,000 transactions in a day while the legacy system could handle 420,000 transactions in a day (Vaman, 2007). Therefore, choosing to implement the R /3 software was a management failure. The management of FoxMeyer did not have contingency planning on how it could deal with changes experienced in the business operations. For instance, a chief customer of the company became declared bankrupt shortly after the company launched SAP (Scott, n.d). The management also failed to involve end users; there was a communication gap since the management used a top-down approach in planning the project.
Besides, the management failed to have sufficient testing of the SAP R /3 before its implementation. The management rushed in implementing the project, which implies that some modules testing was skipped. The R /3 system did not have proper testing so as to determine any shortcomings in handling a vast number of transactions; there was insufficient time in debugging the system in order to determine its functionality with the company’s needs. In addition, the management had poor support for the SAP R /3 system. Originally, the management were extremely committed and supportive to the project; however, after the commencement of the project implementation, the management became reluctant in acknowledging the problems associated with the project; the management failed in recognizing the resources and timelines needed in the implementation of the SAP R /3 project.
The managers of FoxMeyer missed various key opportunities that could have led to the success of the company in selecting and implementation of an IT-project. The managers of the company failed to have a successful software selection. The managers should have engaged different technical specialists in understanding how different software functions through comparing the needs of the company and the various pros and cons of different software. Rather than considering the advice of a single software consultant, the managers should have involved different consultants in order to know, which software would be beneficial to the company (McKeen & Smith, 2007). On the same note, the managers missed to have testing of the software that they implemented; software testing could be helpful in making the managers make up their mind on which software could match the company’s needs.
The managers also missed an opportunity of developing a contingency plan. The managers should have developed a contingency plan of how to ensure survival in case the system failed. This could have helped in saving the company when the system did not work. Besides, the managers of the company missed the opportunity of engaging all the stakeholders, which could have involved customers of the company and end users. The involvement of all stakeholders could have assisted in analyzing the various opinions of stakeholders in the initial stages of the project (Robinson & Kalakota, 2000). In addition, the managers of the company missed an opportunity of monitoring the project thoroughly. A close monitoring of the project could have helped the managers detect related costs and benefits of the project at an early stage (Brown et al, 2012).
References
Brown, V.C, Dehayes, W.D., Hoffer, A.J., Martin, E.W. & Perkins, C.W. (2012). Managing Information Technology (7th Edition). New York: Prentice Hall.
McKeen, J.D & Smith, H.A. (2007, June). “Delivering IT Functions: A decision Framework.” Communications of the Association for Information Systems. Vol. 19 (35).
Robinson, M., & Kalakota, R. (2000). E-business 2.0: Roadmap for success. Boston, MA: Addison-Wesley.
Scott, E.J. (n.d). The FoxMeyer Drug’s Bankruptcy: Was it a Failure of ERP? The university of Texas at Austin.
Vaman, J. N. (2007). ERP in practice: ERP strategies for steering organizational competence and competitive advantage. New Delhi: Tata McGraw-Hill Pub. Co.
Fourth Amendments Arrests and Stops
Running Head: Fourth Amendments’ Arrests and Stops
Fourth Amendments’ Arrests and Stops
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Course
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Introduction
The 4th Amendment forms the legal basis for determining how, when and where searches and seizures should be carried out by the authorities. Under the Arrests and Stops, the police officers are required to obtain warrants where necessary, though non court sanctioned arrests may be made under reasonable suspicion. Any of process of search and arrest should thus by guide by probable cause as well as limitation to the extent to which a search can be carried out. These stipulations can be illustrated by looking at such cases as United States v. Watson, Chimel v. California, and Terry v. Ohio.
United States v. Watson
Citation
United States v. Watson, Supreme Court of United States (1976)
The facts
Material facts
In the case, a postal inspector was tipped by an informant on how to get the person who stole cards. Upon alerting the inspector, the two colluded to have the informant meet the defendant at a restaurant and signal the officer upon confirming that the case was indeed true. Based on the signal, the defendant, Watson, was arrested and his car searched, after which two cards were recovered from his car.
Legal facts
In the case, the court was to determine the legality of the arrest
The holding
The court’s ruling affirmed the officer’s action. As such, the arrest was deemed legal and within the law.
Legal rationale
The legal argument of the court was that in such a case, the officer relied on the provisions and principles of probable cause. Based on the stipulations of common law and the laws of the US, a postal officer or equivalent is entitled to carry out arrest in case of a felony. Such an arrest can be made if the officer witnessed the felon carry out the illegal act or if he can reasonable belief that a felony has been committed by the accused.
Conclusion
The outcome of the case calls for a broad based view of such cases and the roles of peace officers with respect to enforcement of laws.
Chimel v. California
Citation
Chimel v. California, U.S. Supreme Court; 395 U.S. 752 (1969)
The facts
Material facts
Based on an arrest warrant, officers went to Chimel’s house to execute the order. As a burglary suspect, the police went ahead and searched the house to check if he had stolen materials. In the process, a number of items were obtained in the house and late used as court exhibits. In the process, the accused was convicted.
Legal facts
The legal issue was to deduce the legality of the officers’ search given that they only had an arrest warrant.
The holding
The Supreme Court held that the search was unconstitutional under the 4th amendment.
Legal rationale
Basing its opinion on the principle of ‘incident to arrest’, the court argued that the search act was not reasonable. The law requires that application of the principle be within an area within control of the accused. Specifically, the police are not allowed to carry out a comprehensive search as they did without proper / legal authority. A search warrant could have therefore been sought by the police together with the arrest warrant.
Conclusion
In the case, it is evident that an arrest warrant does not entitle the police to carry out a house search. This would entail abuse of police authority and the legal instrument given by the court
Terry v. Ohio
Citation
Terry v. Ohio, 392 U.S. 1 (1968)
The facts
Material facts
In Terry v. Ohio, a police officer observed two men behaving strangely as they inspecting or surveying a store and conferring with each other. The suspects could peep into a store’s window alternatively and talk to each other before being joined by another who would disappear speedily after a brief exchange. The officer then confronted the men and when he enquired about their identities, one only mumbled, promoting the officer to search them. In the process, a pistol was discovered from them and they were arrested.
Legal facts
In the case, the court was to determine the legality of the use of the recovered weapon as court evidence. In line with the 4th amendment, the court was to establish whether or not the police acted reasonably within the law. In determination if the legal facts that arose relate to whether probable cause and search principles were legally applied in the process of arrest.
The holding
The court held that the officer acted within the law and the very spirit of the 4th amendment.
Legal rationale
This is because he carried out limited search on the suspect. Though probable cause may be absent in certain situations, an officer can actually carry out search if in his reasoning the suspect might be having dangerous weapons that may be used to assault him or her or the public.
Conclusion
The case outlines the need for the police officers to avoid unnecessary risks in the course of their duty/duties. As such, one should be reasonable when he observes a strange act and instigate a follow up. When such a situation arises there is need for the officers to be on the look out for a possible criminal act while at the same time taking care not to risk their lives and public safety by searching the suspects of any dangerous weapons.
Application of Fourth Amendment
In the United States vs. Watson, the Supreme Court relied on the provisions of the 4th amendment to determine the case. Based on the amendment, the lower courts decision was reversed for narrow and restrictive interpretation of the 4th amendment.
The 4th amendment as envisioned in the disposition of the cases can be described as one of the best legal instruments that promotes adherence to the rule of law and respect of human rights. For example, the case of Chimel v. California emphasizes need for respect for individual right to privacy and protection by the law. The architects of the amendment must have been driven by the need to refine the laws so that ‘an incident to arrest’ may not be abused by the police. As such, the role of warrants and need to differentiate between a search and an arrest warrant come into play. The amendment, also emphasizes the significance of probable cause and incident of arrest so that the police do not use excessive force or abuse their powers in the process of law enforcement. In United States v. Watson , the officer’s decision to search the car did not arise as a result of an illegal arrest . As such, the court argued that under reasonable situation and existence of reasonable degree of suspicion, it is not mandatory that an arrest warrant be obtained first before an officer can act. Conversely, a warrant less arrest can be executed and the conviction of such a crime by let to stand in court of law. In Terry v. Ohio, the probable cause and reasonable suspicion issues clearly come out. It is evident that a police is justified to carry out a search on an individual even without a warrant as the suspect may be armed and in the process harm him or her. As such the principle of probable cause does not apply in this case. However the nature of the officer’s action must be guided by reasonable suspicion that is devoid of malice. For example, by continuously peeping through the window and coffering, the police had a reasonable ground for suspicion of the intention of the men on the street. At the same time, the search needs to be carefully applied with limit. As such reasonable suspicion gives ground for frisking by a police officer.
In conclusion, United States v. Watson, Chimel v. California, and Terry v. Ohio cases point out the fact that human right need to be observed at al times so that the requirements of the 4th amendment are legally taken into account. As such, the officers need to carry out limited search if they are convinced that probable cause exists. However, the absence of the same as well as a warrant , under reasonable suspicion can prompt a stop and frisk or limited search situation.
References
Chimel v. California, 395 U.S. 752 (1969) Retrieved July 20, 2010, from
http://supreme.justia.com/us/395/752/case.html The Institute for Criminal Justice Ethics (n.d.). Retrieved July 20, 2010, from
http://www.lib.jjay.cuny.edu/cje/html/policeethics.html
Terry v. Ohio, 392 U.S. 1 (1968) [Electronic version]. Retrieved September 3, 2008, from
http://supreme.justia.com/us/392/1/case.html United States v. Watson , 423 U.S. 411 (1975). Retrieved July 20, 2010, from
http://www.law.cornell.edu/supct/html/historics/USSC_CR_0423_0411_ZS.html