Fragile X Syndrome Symptoms and Investigation

Fragile X Syndrome Symptoms and Investigation Title Complications and investigations of Fragile X syndrome Introduction Fragile X syndrome is considered the most common heritable form of mental retardation, it affects approximately 1 in 4000 males and 1 in 8000 female it is an X linked disease caused by mutation in the† FMR1 gene â€Å"This mutation in dynamic it varies in length and so in severity from generation to generation The syndrome is more severely affecting boys It is associated with by prominent or long ears This abnormal morphology suggests abnormal auditory function.. The mutational mechanism, combined with the location of this gene on the X chromosome, leads to remarkable inheritance patterns in which the relevant alleles are passed from intellectually normal men through their unaffected daughters and then to affected sons Aim of Work Study the complications and achieve accurate investigation of fragile X syndrome Methods Meta-analysis randomized controlled trials studies were revised of Fragile x analysis patients either complicated with hemiplegia or not , and Systematic review and several case control studies were revised about hearing assessment using auditory evoked potential or auditory stimuli on children with fragile X syndrome were identified based on systematic searches of 5 electronic databases including Pubmed database ,in addition to Searching on internet on site of national fragile x foundation and site † European Journal of Human Genetics†, which provide me with many information that helped me in proving the role of chromosome Karyotyping and comparative genomic hybridization (CGH) microarray in investigation of Fragile X syndrome Results According to Above Methods , Sample of Children with Fragile X syndrome showed that Seizures are reported to occur in 10 to 20 percent of cases with a full mutation FXS 1 and are typically of the complex partial type 4. About 25 – 50 % suggested a high incidence of autistic behavior , most of them were in the mild to moderate autistic range while few suggested to have severe autism . Also, another screening studies were done and revealed that the sensitivity to develop autism in children with FXS is very high. in one cross sectional study, Participants (aged 10-23 years) included 17 males and females with FXS and 16 males and females serving as controls. Patients with FXS showed decreased functional connectivity in the salience, precuneus, left executive control, language, and visuospatial networks compared with controls. Decreased fALFF in the bilateral insular, precuneus, and anterior cingulate cortices also was found in patients with FXS compared with control participants, it is evident that FXS is a neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder. But no cases develop a more serious neurologic disorder such as hemiplegia as one of its complications In control studies which is done on sample of children with Fragile X syndrome after chromosome Karyotyping We found a break, or weakness, on the long arm of the X chromosome. it was helpful, it was not always accurate as, those with premutations did not have the typical â€Å"Fragile X† chromosome as seen under the microscope. Also, using comparative genomic hybridization (CGH) micro array is very useful  as Comparative genomic hybridization (CGH) micro array is a genetic test to detect any small deletions and duplications of the subtelomers of chromosomes Several case control studies was performed using auditory evoked potential One of them was made on 10 girls with fragile X syndrome and another age matched typically developing controls aimed at performing an auditory temporal discrimination task in a 3T scanner proved that there is significantly great brain activation in the left lateralized network On the other hand a case control study was mad on 23 with FXS and 21 controls by using auditory evoked potential and it proved that AEP of fragile X syndrome patients is within the normal limits Conclusion From above studies methods and their results, it was found that there is many complications of fragile X syndrome as: Seizure, which is reported to occur in 10 to 20 percent of cases with a full mutation FXS  high percentage of Fragile X syndrome patients develop autism . There are also evidence of developing other developmental disorders But, no case has been reported to develop hemiplegia so, the fragile x patient is not prone to be hemiplegic. Above studies also showed the accurate investigations for FXS as  chromosome Karyotyping help in diagnosis of Fragile X syndrome I recommend it in this case to show the affected gene but , it was not always accurate hearing assessment is recommended to diagnose fragile X syndrome as most of these children have hearing difficulties Although the absence of these difficulties does not rule out the disease (CGH) micro array is recommend in to investigate case with fragile X chromosome.As it can detect specific abnormalities in a chromosome. References Scambler DJ, Hepburn SL, Hagerman RJ, Rogers SJ. A preliminary study of screening for risk of autism in children with fragile X syndrome: testing two risk cut-offs for the Checklist for Autism in Toddlers. J Intellect Disabil Res. 2007 Apr;51(Pt 4):269-76. PubMed PMID: 17326808. Petit E, Hà ©rault J, Raynaud M, Cherpi C, Perrot A, Barthà ©là ©my C, Lelord G, Mà ¼h JP. X chromosome and infantile autism. Biol Psychiatry. 1996 Sep 15;40(6):457-64. PubMed PMID: 8879465. Lee AD., Leow AD., Lu A., et al 3D Pattern of brain abnormalities in fragile X syndrome visualized using tensor-based morphometry. Neurolmage. 2007;34:924–938. Haas BW., Barnea-Goraly N., Lightbody A., et al Early white-matter abnormalities of the ventral frontostriatal pathway in fragile X syndrome. Dev Med Child Neurol. 2009;51:593–599. Ribacoba Montero R, Salas Puig J, Fernà ¡ndez Toral J, Fernà ¡ndez Martà ­nez JM, Moral Rato M. [Fragile X syndrome and epilepsy]. Neurologia [Internet]. 1995 Feb [cited 2013 Dec 1];10(2):70–5. Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Dalla Bernardina B, Tassinari CA, et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia [Internet]. 1999 Aug [cited 2013 Dec 1];40(8):1092–9. Crawford DC, Acuna JM, Sherman SL: FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001; 3: 359–371. Hagerman RJ: Medical follow-up and pharmacotherapy; in Hagerman RJ, Hagerman PJ (eds):: Fragile X Syndrome: Diagnosis, Treatment and Research, 3rd edn. Baltimore: The Johns Hopkins University Press, 2002, pp 287–338. Roberts J, Hennon EA, Anderson K, Roush J, Gravel J, Skinner M, et al. Auditory brainstem responses in young males with Fragile X syndrome. Journal of speech, language, and hearing research : JSLHR [Internet]. 2005 Apr [cited 2013 Dec 2];48(2):494–500. Rueda J-R, Ballesteros J, Guillen V, Tejada M-I, Solà   I. Folic acid for fragile X syndrome. The Cochrane database of systematic reviews [Internet]. 2011 Jan [cited 2013 Dec 3];(5):CD008476. Keywords :- FragileXsyndrome – autism- epilepsy- CGH-chromosome karyotyping -auditory evoked potential -hemiplegia

Violence In Rap Music Essay -- essays research papers

Boom, boom! Boom, boom! The kind of bass that drains batteries and the kind of lyrics that unload clips, these are the sounds that rap music produces. I chose this topic because I am extremely interested in rap music and I want to explore the violent aspect of the industry. I have never had a chance to look at the violent side of it and I plan to find answers to questions I have in my search. Tupac Shakur is one of my favorite artists and when he was shot and killed I really started to take notice of the violence. People were getting killed because of an image that was being set. What I really want to know, however, is why rappers feel compelled to graphically describe the violence. In my search I plan to find out reasons behind the deaths of Tupac and the Notorious B.I.G. Was there some kind of connection between both of their deaths? I believe that rap music was never violent until "gangsta" rap came about. What sparked this change and who was behind it? I want to explore "gangsta" rap from the beginning until now. I want to research the major players in the rap game, who they are and what some of their lyrics are saying. Today our society is bursting at the seams with violence. There is fighting in other countries like Kosovo, shootings in schools, and violence on television. In my opinion, though, nothing has a greater effect on the youth of America than rap music. However, this isn’t a new issue, there has been violence in rap music for years. Such as, gang violence, references to drive-by shootings and homicides in songs. Since this is such a broad topic I will explore the violent side and history of the industry, the lyrics, as well as the artists. Page 2 In 1986 an unknown rap group came "Straight Outta Compton" and they called themselves N.W.A ( Niggaz With Attitudes). Eazy-E (Eric Wright) started this group along with four friends Dr. Dre (Andre Young), MC Ren (Geronimo Pratt), Ice Cube ( O’ Shea Jackson) and DJ Yella and they soon became the most controversial group ever to hit the industry. In 1989 they released the album, Straight Outta Compton, and a wave of fear was sent over the country, it was an instant classic. With disturbing song titles ranging from "F*ck Tha Police" to "Gangsta, gangsta" caused the FBI and the LAPD (Los Angeles Police Department) to invest... ...t’s most influential rappers, gangsta rap has essentially died with it. Today there is still violence in rap music, but things aren’t as bad as they were. There is still lots of references to killings and gang violence, but things have calmed down and things aren’t so tense around rap music anymore. In my search I have learned a lot about N.W.A, for instance I never knew that there was so much controversy surrounding them when they first came on the scene. I Page 7 learned a lot about artists lyrics, a lot are just due to rivalries that were formed. From the myths that I read concerning Tupac’s death I have a really strong feeling that he is still alive. In retrospect I fell that I am ahead of where I wanted to be at the end of this paper. I have such a good knowledge of gangsta rap’s roots until now and who the major players are. The one thing that surprised me was when I found out the F.B.I and LAPD investigated N.W.A. I think that was a little bit of overreacting . I felt that I made good progress on this paper, I found information that I needed and my interviewee was very cooperative. I really enjoyed doing my search, it was a topic I chose myself, so I had fun conducting it.

NCTM standards for elementary school mathematics Essay

The National Council of Teachers of Mathematics is a teacher support organization to improve the learning standards of mathematics and ensuring equitable access to quality mathematics teaching and learning, the organization is focused on research, professional development, advocacy, equity and curriculum instruction and assessment. The council developed ten standards based on the mathematical content and processes, according to Bassarear,(2007), those based on mathematical content include Number and Operations, Algebra, Geometry, Measurement, and Data Analysis and Probability, while the standards based on processes are Problem Solving, Reasoning and Proof, Communication, Connections, and Representation. The strands are applicable in different levels of elementary education. The strands developed are founded on the six principles of Curriculum, Equity, Learning, Assessment, Teaching and Technology and articulate that Number and Operations which is concerned with creating and enlarging understanding of whole numbers as this is elemental requisite in mathematics. Geometry is concerned with recognizing shapes and recounting spatial relationships that exist, it deals with analyzing characteristics and attributes of two- and three-dimensional geometric shapes, geometry also is concerned with creating mathematical opinions concerning geometric relationships, such as locations, symmetry, transformations, visualization and coordinate geometry. Measurement is another standard which is concerned with terms of discovering assessable attributes and evaluating objects by using these attributes. Data analysis and probability is concerned with application of data management and probability techniques, such as data collection, organization, data analyses, sorting and using inferences. The other standards are problem solving where students should be able to derive solutions of problems, Reasoning and Proof where the answers to the problems can be verified by mathematical means, Communication in terms of conversing the answers derived and methodology used, Connections in establishing relationship between different mathematical techniques and representation where students should be able to represent the problems and the solutions. While the proposed standards have been faced with controversies, they have supported immensely the regulation of elementary schools mathematics in United States and Canada. References Bassarear, Tom. (2007). Mathematics for Elementary School Teachers. Florence, KY: Cengage Learning.

Density of Common Substances

The table below shows the  density of some common substances, in units of kilograms per cubic meter. Some of these values may certainly seem counter-intuitive—one would not expect mercury (which is a liquid) to be more dense than iron, for example. Notice that ice has a lower density than either water (freshwater) or seawater (saltwater), so it will float in them. Seawater, however, has a higher density than freshwater, which means that the seawater will sink when it comes in contact with freshwater. This behavior causes many significant ocean currents and the concern of glacier melting is that it will alter the flow of seawater—all from the basic functioning of density. To convert the density to grams per cubic centimeter, merely divide the values in the table by 1,000. Density of Common Substances Material Density (kg/m3) Air (1 atm, 20 degrees C 1.20 Aluminum 2,700 Benzene 900 Blood 1,600 Brass 8,600 Concrete 2,000 Copper 8,900 Ethanol 810 Glycerin 1,260 Gold 19,300 Ice 920 Iron 7,800 Lead 11,300 Mercury 13,600 Neutron star 1018 Platinum 21,400 Seawater (Saltwater) 1,030 Silver 10,500 Steel 7,800 Water (Freshwater) 1,000 White dwarf star 1010