We use cookies to create the best experience for you. Keep on browsing if you are OK with that, or find out how to manage cookies.
Nobody downloaded yet

Case Study - Essay Example

Comments (0)
Summary
Tay - Sachs disease-it is a rare autosomal-recessive, continuous and finally calamitous neurodegenerative disorder. The symptoms surface before the baby attains six months of age. Symptoms include; loss of motor skills, startle reaction, muscle paralysis, seizures, slow…
Download full paper
GRAB THE BEST PAPER
Case Study
Read TextPreview

Extract of sample
Case Study

Download file to see previous pages... 3. Testing for carrier or affected individuals with Tay-Sachs disease; blood screening for hexosaminidase-A (Hex-A) mutation in suspected individual that either have family history or are of Ashkenazi Jewish descent is used to identify carriers. Blood test is performed antenatal using chronic villus sampling and amniocentesis or after birth.
5. Function of lysosomes; they produce enzyme Hexosaminidase-A (Hex-A) that prevents buildup of fatty materials called GM2 ganglioside in the cells brain and nerves. This further averts malfunctioning of nerves and brain cells (Americo, Filho, & Shapiro, 2010).
6. Role of Hexosaminidase-A enzyme; this enzyme is responsible for abasement of GM2 ganglioside and many other biological molecules that have terminal N-acetyl hexosamins in both the brain cells and nervous cells. Deficiency of enzyme hexosaminidase A causes Tay-Sachs disease due to increased buildup of toxic GM2 ganglioside a fatty substance that destroys brain cells and nerves. This results in motor difficulties and other signs and symptoms.
7. Diagnosis of Tay-Sachs disease; blood test is analyzed for enzyme assay or biochemical examination that reveals the levels of hexosaminidase- A in an individual. Affected individuals have less -hexosaminidase A blood and other cells than non-carriers.
8. Management; Tay-Sachs disease has no cure; only management is to relieve symptoms. Prevent airway and lung problems; relieve dysphagia and medication for fits, muscle stiffness and eye problems (Chamoles, Blanco, Gaggioli, & Casentini, 2002).
Chamoles, N. A., Blanco, M., Gaggioli, D., & Casentini, C. (2002). Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards. Clinica Chimica Acta, 318(1-2), 133–137. doi:10.1016/S0009-8981(02)00002-5
Ohno, K., Saito, S., Sugawara, K., & Sakuraba, H. (2008). Structural ...Download file to see next pagesRead More
Comments (0)
Click to create a comment or rate a document
CHECK THESE SAMPLES - THEY ALSO FIT YOUR TOPIC
Case study Case Study
The fall of the hammer in a traditional auction is complete when the auctioneer announces its completion by the fall of the hammer or in other customary manner-and until any such announcement is made any bidder may retract his or her bid. The equivalent of the fall of the hammer in an eBay auction is the automatic close of bidding at a fixed time and the generation of an eBay advice headed "won" appear to have been accepted by the parties to an eBay auction.
6 Pages(1500 words)Case Study
Case Study
All the information about the three potential candidates for Managerial position has been summarized in the given table. The information in the table shows that Carmen is a lady with
6 Pages(1500 words)Essay
Case study
However, the experiments done on unsuspecting human subjects by Doctor Neisser called into question the morality and ethics of experimentation on human subjects. It was Doctor Rudolf Virchow, a Berlin
2 Pages(500 words)Essay
Case study
10). Culture is diverse; hence whatever is valued by one community may not be so to the other. In health institution, Elaine (2004, p. 250), observes that patients from the same ethnic background are
2 Pages(500 words)Essay
Case study
In this context, a case is defined as “the singlemost defining characteristic of case study research” (Merriam, 1998, p.27). The marketing research proposed in this paper, is based on the
4 Pages(1000 words)Essay
Case study
Today, the meaning of propaganda is used comprehensively to connote public relations. The government uses mass relations to disseminate accurate information on policies and their adversaries. The two frequent features that presented propaganda’s new possibilities were mass
1 Pages(250 words)Essay
Case study
The amount of organizational takeovers and company mergers has been considered a standard of measure of the level of economic development. In most cases, company takeovers have been associated with incidents
4 Pages(1000 words)Essay
Case Study
sively become more complicated, labor shortages will become evident in most of the mature industries and companies especially in the developed countries. At the same time, a more than needed number of employees with skilled talent are likely to be seen in other areas and
2 Pages(500 words)Essay
Case study
With the decline in sugar and cocoa production, many people became unemployed. Urbanization in the country, as indicated in the case study gave people hope for better non-agricultural jobs. Many left
2 Pages(500 words)Essay
Case study
A company should embrace technology in handling production process. Bella India has skilled personnel as evidenced in the way management tackles technical issues such as reduction in transitional time between St Louis and
1 Pages(250 words)Essay
Let us find you another Essay on topic Case Study for FREE!
Contact us:
+16312120006
Contact Us Now
FREE Mobile Apps:
  • About StudentShare
  • Testimonials
  • FAQ
  • Blog
  • Free Essays
  • New Essays
  • Essays
  • The Newest Essay Topics
  • Index samples by all dates
Join us:
Contact Us