Prader-Willi Syndrome an Example of the Topic Health Essays by

Prader-Willi Syndrome by Expert BrilliantEssays | 23 Dec 2016 The following compilation is a description of Prader-Willi Syndrome and Angelman Syndrome, two neurodevelopmental conditions, which will be examined, and through questioning, the search for evidence for a possible distinction between the two disorders. Samples of case studies, evolving around the inquiry of the ratio of male v. female diagnosis, will assist in creating a summary, and final report in the quest for the solution of how children affected by these two syndromes can be assisted with daily functions, such as education, will temporarily close this document but persist in being a corner stone in the continued research of Prader-Willi Syndrome and Angelman Syndrome. Need essay sample on "Prader-Willi Syndrome" topic? We will write a custom essay sample specifically for you Proceed What is Prader-Willi Syndrome and Angelman Syndrome? Though the two disorders share symptoms, and distinguishable physical features, and are considered disorders resulting from the same affected chromosome region, 15q11-q13, according to the research results found at the Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, based in Okayama, Japan; PWS (Prader-Willi Syndrome) results from the loss of expression of paternally expressed genes and AS (Angelman Syndrome) of maternally based genes (Ninomiya, Yokoyama, Kawakami, Une, Maruyama & Morishima, 541). Undergraduates Frequently Tell EssayLab support: I'm not in the mood to write my paper. Because I don't have the time Ask Us To Write My Paper And Get Professional Help Original Essays For Sale Paper Writers For Hire Pay to Get Assignments Done Essay Writer Service Are there shared symptoms between PWS and AS? According to research outcomes cataloged at the Department of Pediatrics, National Taiwan University Hospital in Taiwan, Phenotypes typically include severe to profound psychomotor retardation, abnormal EEG, infantile spasm/epilepsy, hypotonia, behavioral problems, and only mild dysmorphic features; a number of features common to PW or AS were.such as.small hands and feet.hyperextensible joints, seizure, language impairment, and strabismus (Hou & Wang, 126). Case study examples of paternal/maternal inheritance The following information is a compilation of research findings cataloged in the February 2005 issue of the Journal of Autism and Developmental Disorders, based upon clinical studies conducted in UK, and companioned by results achieved through the department of pediatrics at the Okayama University Graduate School of Medicine and Dentistry based in Okayama, Japan; their clinical studies were addressed in Pediatrics International (2005). The research conducted and compiled in UK directly focuses upon paternal inheritance of PWS/AS, in which the patient (a five year old female), the parents, two siblings, and a paternal uncle were also tested for similar traits, to show genetic link to the patient of focus. Some of the characteristics examined were intellectual level, early speech and language development, and motor skill development, inidually, along with cataloging physical features present with the patient in comparison to her family members. Family history was taken into account with the following: There is a family history of manic-depressive in a maternal grandparent and a psychiatric illness, which at stages has been attributed to depression or dementia in a paternal grandparent. In a maternal aunt there is a history of learning difficulties (Veltman, Thompson, Craig, Dennis, Roberts, Moore, Brown & Bolton, 119). The conclusion of the study conducted with the family was found that the mother didnt possess the duplicated gene, although she generated a history of developmental delays and learning difficulties in the academic setting, according to Veltman, Thompson, Craig, Dennis, Roberts, Moore, Brown s testing results showed that he carries the duplicated gene, and had reported a variety of developmental delays, such as walking and social interaction. He also reported having difficulties in the realm of academics, specifically mathematics. The results of the paternal uncle and siblings were no evidence of deficits with the uncle, and while neither sibling possessed the deficient gene in question, each displayed developmental delays throughout their histories, according to Veltman, Thompson, Craig, Dennis, Roberts, Brown & Bolton. The clinical studies generated in Japan were focused upon the maternal inheritance of PWS/AS, and an 18 year old male patient was examined, and blood samples were also taken from the parents. The patients medical history, physical characteristics and developmental delays were discussed, as was the results to the testing conducted to produce the answer to paternal/maternal linkage for PWS/AS. Although research findings focused upon the clinical features of PWS, the following was stated in report: The present case showed the deletion of the very small region from the maternal allele, an AS-like pattern, thought he has some clinical findings for PWS..The difference may be caused by the range of negative regulation spreading. The findings of this study underpin the importance of a positive molecular study in patients with some clinical findings of PWS, and that some symptoms for PWS need the gene of biallelic expression adjacent to the narrow region (Ninomiya, Yokoyama, Kawakami, Une, Ma ruyama & Morishima, 543, 544 & 545). Is the necessity for more in-depth research needed for the maternal inheritance of the duplicate gene for PWS/AS? The question arises with the knowledge that PWS/AS does not possess a male v. female ratio like the findings in Autism Spectrum Disorders research found among male and female children; for every one girl diagnosed with ASD, there are four boys who will receive clinical diagnosis of the same disorder. There is also the question of how genetics counselors become involved to assist in prenatal diagnosis of PWS/AS. Are the possibilities of recurrence in additional children if the first or second child tests positive for the duplicate gene? Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) are associated with a loss of function of imprinted genes in the 15q11-q13 region mostly due to deletions or uniparental disomies (UPD). These anomalies usually occur de novo with a very low recurrence risk. However, in rare cases, familial translocations are observed, giving rise to a high recurrence risk (Flori, Biancalana, Girard-Lemaire, Favre, Flori, Doray & Mandel, 181). What can be done to assist children with Prader-Willi/Angelman Syndrome? Repetitive behavior was examined in children with PWS/AS and children with ASD (Autism Spectrum Disorders). While most of the findings paralleled each other, such as sameness with routines and habits (established activities and/or games played) and sensory sensitivity (different types of fabrics with certain clothes), there were significant differences noted, such as collection of objects, preferences for certain types of food, and lining up of objects (children with ASD are likely to line objects or toys in a row, especially on furniture). Children with PWS showed similar levels of repetitive and ritualistic behavior overall to that seen in children with autism; however, there was some specificity in terms of type of repetitive behavior shown in the two groups. Future research should investigate whether these behavioural phenotypic similarities in PWS and autism are associated with a common neuropsychological, neurotransmitter or genetic origin (Prince, Evans & Charman, 98). Therefore, would the intervention methods implemented for children with ASD be applicable for children with PWS/AS, such as advocacy for these children and their right to education? Could parents of children with PWS/AS be supportive in the roles of negotiator, monitor, supporter, and advocate in conjunction with teachers within the school system? Stoner and Angell submitted a report to Focus on Autism and Developmental Disabilities in 2006, that showed results collected from four families of children with ASD in the exploration of the involvement of parents with their childs education. The 1997 IDEA (Iniduals with Disabilities Education Act) was immediately introduced in the beginning of the documentation, stating the parents legal rights to be involved in their childrens education; this applies to all children, regardless of disability. Parents and educators are involved in the process of meetings to discuss IEP (Inidualized Education Program) strategy and IFSP (Inidualized Family Service Plan goals to develop objectives, interventions, or methods of evaluation, according to Stoner and Angell. In more recent studies, parents of children with disabilities, including ASD, have reported having no involvement with IEP or IFSP plans, lack of choices in services, or lack of effective services (Stoner & Angell, 178). If there is a lack of communication and involvement at times shown here with parents of children with ASD, could this problem cross over into parental involvement of parents with children with PWS/AS? Does parental trust of the education system become an issue? Education professionals, teachers and administration, were given two recommendations, per Stoner and Angells report. (1) Recognize the potential benefit of parents assuming multiple roles within the education setting and encourage parents to be fully engaged in their childrens education, and (2) Recognize that parents will vary in their levels of engagement in their childrens education (Stoner when it came to their children; this sets the stage for apprehension towards trusting other professionals in these fields. Summary Prader-Willi/Angelman Syndromes, though sharing similar symptoms and characteristics, are set apart by inherited gene factors; PWS being paternal inheritance and AS being of maternal origin. Continued research is being conducted to monitor how the duplication of 15q11-q13 occurs, along with the possibilities of recurrence in families with children with PWS/AS. How to assist children with PWS/AS, along with their families, is also being taken into consideration, and integrative methods applied to children with disabilities, such as ASD (Autism Spectrum Disorders), are being look into as a source of assistance in the search for intervention methods for children with Prader-Willi/Angelman Syndromes. Final Report (Conclusion) Continued research, involving participants of families and their children affected with PWS/AS, the differences and similarities of the disorders, the genetic links for each one, along with intervention methods for assisting children with PWS/AS, is the current recommended solution in the search for answers in assisting children with Prader-Willi/Angelman Syndrome. References Flori, E.; Biancalana, V.; Girard-Lemaire, F.; Favre, R.; Flori, J.; Doray, B.; & Mandel, J. L. (2004). Greaves, N.; Prince, E.; Evans, D. W. & Charman, T. (2006). Hou, J. W. & Wang, T. R. (1998). Ninomiya, S.; Yokoyama, Y.; Kawakami, M.; Une, T.; Maruyama, H. & Morishima, T. (2005). Stoner, J. B. & Angell, M. E. (2006, Fall). Veltman, M. W. M.; Thompson, R. J.; Craig, E. E.; Dennis, N. R.; Roberts, S. E.; Moore, V.; Brown, J. A. & Bolton, P. F. (2005).

A Brief History Of The Internet Essays - Internet Protocols

A Brief History Of The Internet Essays - Internet Protocols A Brief History Of The Internet By default, any definitive history of the Internet must be short, since the Internet (in one form or another) has only been in existence for less than 30 years. The first iteration of the Internet was launched in 1971 with a public showing in early 1972. This first network, known as ARPANET (Advanced Research Projects Agency NETwork) was very primitive by today's standards, but a milestone in computer communications. ARPANET was based upon the design concepts of Larry Roberts (MIT) and was fleshed out at the first ACM symposium, held in Gaithersburg, TN in 1966, although RFPs weren't sent out until mid 1968. The Department of Defense in 1969 commissioned ARPANET, and the first node was created at the University of California in Los Angeles, running on a Honeywell DDP-516 mini-computer. The second node was established at Standford University and launched on October first of the same year. The third node was located at the University of California, Santa Barbara (November 1, 1969) and the fourth was opened at the University of Utah in December. By 1971 15 nodes were linked including BBN, CMU, CWRU, Harvard, Lincoln Lab, MIT, NASA/Ames, RAND, SDC, SRI and UIU(C). In that same year, Larry Roberts creates the first email management program. As a side note, Ray Tomlinson is the person who established the @ sign as a domain/host designator from his Model 33 Teletype. The first international connection to ARPANET is established when the University College of London is connected in 1973, and RFC-454 File Transfer Protocol was published. 1973 Was also the year that Dr. Robert Metcalf's doctoral thesis outlined the specifications for Ethernet. The theory was tested on Xerox PARCs computers. 1974 saw the launch of TELNET public packet data service. UUCP (Unix-to-Unix Copy Protocol) was developed at AT&T Bell Labs in 1976, and distributed with UNIX the following year. 1978 saw the split of TCP into TCP and IP. In 1979 the first MUD (Multi-User Domain) was created by Dr. Richard Bartle and Roy Trubshaw from the University of Essex, and was the foundation for multi-player games (among other things). This event marked the gradual decline of productivity ver the Internet. In 1981 a cooperative network between CUNY (City University of New York) and Yale was established. This network was called BITNET (Because It's There NETwork) and was designed to provide electronic mail transfer and listserve services between the two institutions. RFC-801 NCP/TCP Transition Plan was published that same year. It was because of the growing interconnectivity of new networks that the phrase Internet was coined in 1982, and the Department of Defense also declared TCP/IP to be its defacto standard. The first name server was developed in 1983 at the University of Wisconsin, allowing users to access systems without having to know the exact path to the server. 1983 also saw the transition from NCP to TCP/IP, and it was at this same time that ARPANET was split into ARPANET and MILNET. 68 of the current 113 existing nodes were assigned to MILNET. It was also in 1983 that a young San Francisco programmer, Tom Jennings wrote the first FidoNet Bulletin Board System, which was capable of allowing both email and message passing over the Internet between networked BBSs by 1988. In 1984, the number of hosts on the Internet broke 1000, and DNS (Domain Name Services was introduced. Moderated Newsgroups also made their first appearance this year, although it would be almost a year and a half before NNTP (Network New Transfer Protocol) would be introduced. In 1985, the WELL (Whole Earth 'Lectronic Link) was launched out of Sausalito California, allowing San Francisco Bay Area users free access to the Internet. The Internet had grown so fast, and to such large proportions by this time that some control was needed to oversee its expansion, so in 1986, the Internet Engineering Task Force (IETF) and Internet Research Task Force (IRTF) came into existence under the IAB. 1988 Saw the advent of IRC (Internet Relay Chat), developed by Jarkko Oikarinen, and it can be safely assumed that the first Hot Chat (cyber-sex) took place very shortly afterwards. By 1989 the number of Internet hosts had capped 100,000, and the first commercial Internet mail service was created by MCI. In 1990, ARPANET was finally closed down and