Genetics: Gaucher Disease Type 1 Sample Essay

Abstract

The Gaucher disease type 1 category is a genetically related complication in which there is an automatic recession in the way lysosomes store some important gene enzymes. This abnormality is mainly caused by the slow or sometimes dormant reactivity of the genetic chemical substance called beta-glucocerebrosidase. The latter is normally expected to maintain its activity level in order to be able to reduce the accumulation of fatty substances. In essence, glucosylceramide would often build up in between body cells. If this build up persists for sometime, there is a higher probability that the persoin question may sooner than later be diagnosed with the early symptoms of Gaucher disease. Total rectification of the enzyme abnormality in fibroblasts to those individuals who suffer from the latter condition has been medically evaluated to be possible. This has been carried out in vitro whereby the specific GBA genetic make up is transplanted. In addition, the basic hematopoietic cells deficiency of this important gene can also be medically ratified by retroviral transplant of the necessary genetic cells. Furthermore, the gaucher diseases can be diagnosed through classical means through chemical analysis of the abnormal disposition of the mutated genes.

Disease diagnosis

Gaucher disease type 1 can be recognized by quite a number of symptoms which is usually associated with it. To begin with, there is eminent weakening of the general body structure (Beutler & Grabowski 2001). This may manifest itself through the skeleton which gradually diminishes in strength as well as rigidity. Patients who suffer from this condition may experience a generally frail body similar to fatigue which its cause cannot be explained. Moreover, there are other major body organs which may be diagnosed with Gaucher disease. For instance, spleen and liver are often elongated beyond normal size. This abnormal length of either spleen or liver may lead to a secondary condition which is can now be identified physically. In most cases, patients whose spleen and liver have been stretched beyond the expected size may equally suffer from pot bellies.

Besides, another physical manifestation of Gaucher disease can be observed right in the eye of the patient. There is usually a thick spot on the eye. This deposit is made up of fats which happen to accumulate at one point on the eye. Furthermore, patients suffering from this abnormal condition may have iron deficiency in their blood which leads to anemic condition as well as a demeaning number of platelets. White blood cells in the blood sample of the patient also drop significantly (Tayebi et al. 2001).

Gaucher disease can also be diagnosed classically. A chemical procedure which involves the analysis of any possible deposit from urine which has been sampled for a period of one completer day is conducted. This urine sample is then checked against the presence of gluccocerebroside. The latter can then be recognized by the unusual and rather awkward positioning of the lethal cells of the disease. Moreover, the quantity of a certain chemical component in white blood cells can be used to determine the availability of Gaucher cells. Lastly, a classical application of X-ray or MRI scans can be used to detect the disease (Beutler & Grabowski 2001).

Etiology

Gaucher disease etiology refers to the various possible causes or origins of the condition. In this regard, it is imperative to note that the main cause of Gaucher disease lies within the recessive behaviour in which the human GBA genetic make up undergo some form of cell damage or mutated. The mutation process is self regenerative. Once this condition prevails in a prospective patient, it implies that the mutated or damaged gene will not be in a position to produce a chemical component called beta-gluccocerebrosidase (Neudorfer et al 1986). This substance has an enzymatic property which makes it suitable as well as capable of emulsifying fatty products which would otherwise accumulate and precipitate the initial conditions of the gaucher disease.

Case study

The medical treatment of Gaucher disease has taken different approaches in the past a few years. Being a genetically related disease, it can be transmitted from the parent to the offspring or within a family tree.

In the treatment of this disease, several proposals have been put forward. For example, complete detachment of the affected organ has been recommended and implemented as well. A case in point is spleen which can be removed from the body of a patient. Better still; the affected elongated liver which may have failed to work can be transplanted. In spite of this possibility of a liver transplant, there are a myriad of ethical issues surrounding this medical practice which spans from who can donate the organ for transplant and whether the donor partner is to be considered for due financial compensation (Neudorfer et al 1986).

In cases where the Gaucher patient has undergone gross blood lose, blood transfusion from a compatible donor has been recommended. This is important because insufficient blood may inevitably lead to anemic condition thereby aggravating the ordinary condition of the disease. Meanwhile, a weak skeleton resulting from gene mutation an be treated by treating the target bones. Besides, the paining joint can be operated upon so as to reduce the level of pain alongside restoring the obsolete and dysfunctional parts of the bone. In many cases, joints and pains which emanate from bones may be exacerbated by other factors like deficient mineral quantity in bones. In such cases, oral suspensions containing nutrients rich in calcium ‘can be administered to patients.

A case study concerning gaucher disease was carried out among different groups in order to establish whether the knowledge on this disease has resulted into new ways of recognizing it. Through testing the genes of each target group namely some ethnic groups among Africans, Jews and Swedish people as well as expectant mothers, the medical experts have been able to explore deeper and identify the risk factors as well as other intrinsically cognitive diagnoses of the gaucher disease. On the same note, substantial knowledge on this disease has resulted into streamlined and better methods of treatment (Lovell et al. 2006). A case in point is the fact that therapeutic processes involving genetic study of the gaucher disease has elicited more pragmatic hope on the better and improved treatment of the disease. Indeed, there is light at the end of the tunnel than before.

Conclusion

In summing up this paper, it is imperative to underscore some key points. Firstly, the gaucher disease originates when there is reduced autonomic damage of the gene which usually produces an enzyme called glucocerebrosidase that emulsifies fatty compounds from the human biological system. Once these fatty substances are not eliminated and consequently accumulate on one spot, it inevitably leads to symptomatic etiology of the gaucher disease. Secondly, the disease can be treated using both modern and classical medical options available like X-ray scans and so on. Finally, enhanced knowledge on the disease has simultaneously led to better methods of diagnosis and treatment.

Reference List

Beutler E and Grabowski G.A (2001). Gaucher disease, in: C.R. Seriver et al. (Eds), Metabolic and Molecular Basis of Inherited Disease, New York: McGraw-Hill.

Lovell B W, Winter B R, Morrissy T R and Weinstein L S (2006). Lovell and Winter’s pediatric orthopedics, Volumes 1-2(6th Ed.). Philadelphia: Lippincot Williams & Wilkins.

Neudorfer O, Giladi N, Elstein D, Abrahamov T et al. (1986). Occurrence of Parkinson’ syndrome in type 1 Gaucher disease, QJM 89: 691-694

Tayebi N, Callahan M, Madike V, Stubblefield B.K, Orvisky E, Krasnewitch D, Fillano J.J and sidransky E (2001). Gaucher Disease and parkinsonian Manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to Parkinsonism? Mol. Genet Metab. 79: 104-109.

Technological Advancements And Job Growth

Advancement in Technology has, to a larger extent, eliminated different forms of jobs in the recent past. Job automation technology coupled with globalization has been the principal force behind the moribund wages together with diminished prospects of most workers around the globe. Within the next 25 years, job growth is highly likely to suffer and the official unemployment rate will remain at 10%. Economists are projecting that the job markets will take several years to improve (National Research Council, 2001).

According to Coffey& Dunphy (2001), information technology accelerates at a higher rate, in most cases doubling after every two years. It is therefore anticipated that within the coming years we are likely to experience a more striking progress. Automation will not just affect the low wage and uneducated workers but it is likely to affect a larger portion of the workforce. The population of humans increases with time. Therefore it is expected that with the advancement in technology, the rate of unemployment will be on an upward increase. Cross (1999) argues that technologies like artificial intelligence, software computerization application and machine learning will increasingly facilitate machines to perform jobs which need significant training as well as education. College leaving individuals who are prepared to work based on the knowledge they have acquired in class may find the going tough not just by the low levels of payment but also machines as well as software algorithms which are used to carry out sophisticated examination and making of decisions (National Research Council, 2001).

Presently there is continuing progress in manufacturing and automation together with the introduction of advanced commercial robots which are continuously plummeting opportunities for lower-skill labour force personnel. The progress in the level of technological advancement is relentless. At a certain time, both machines and computers will eventually come to a point where they will exceed the traditional worker aptitude to carry out most routine work. The end result is likely to be what is commonly known as structural unemployment which ultimately impacts the workforce in practically all levels (Waldeck, 2000).

According to recent research, human beings are living longer and the retirement age is also increasing. Coupled with the advancement in the level of technology which has led to downsizing, unemployment will be a common place issue. The records indicate that a good number of people are working beyond the age of 65 with an aim of boosting their income in retirement. It is important to note that with this kind of scenario, job growth will be adversely affected and unemployment will always be a factor due to humans living longer and spending much of their time working before retirement (Cross, 1999).

In the past, the progression in the level of technology has characteristically impacted a single employment sector at a time. This has always helped in leaving other sectors for transition purposes. It is not going to be like that this time round. Increasing levels of information technology will provide a completely exceptional level of work aptitude which can be applied almost everywhere within the economy. As the contributors of technology come up with innovations, automation will most likely become more affordable and accessible in almost all the sectors of the economy. Incase there is a possibility of saving money through automation; competition pressure will always force companies to move in that direction (Shultz & Adams 2007).

National Research Council (2001) argues that tthough there will always be jobs that cannot be automated, the reality on the ground is that a larger percentage of workers in the country are employed in jobs that are essentially routine and repetitive in nature. A large number of these jobs are going to be vaporised by the increasing level of technology in the coming years. The availability of the advancing technology is a clear indication that the chances of new employees being absorbed into new sectors are minimal.

Khosrowpour (2000) notes that when the level of unemployment increases and wages fall, there is a likelihood of unrestricted consumer spending and confidence will most likely fall. The consequential effect is a descending economic cycle which will prove to be highly difficult to reach. At some given threshold, business models of larger markets are likely to be endangered due to the fact that there would simply be a larger number of possible consumers to buy the available products. Extraordinary levels of defaults in payment of the existing debts, plunging asset values will be easily seen.

Many people will use and publicize the high level of modern technology for a good number of its achievements and advancement. The reality is that it has continuously affected the society in general in a negative way. Advancement in the level of technology have, to a larger extent, affected various sectors of the economy and in most cases, forces a number of business to shut down. The resulting effect of increasing automation is likely to bring about a massive economic, social, and political face up over the coming years. Technological advancement is increasingly replacing human labour (De Ferranti, 2003).

The increasing level of advancement in the level of technology proves to be a greater challenge in the current society. Basing on the number of people losing their jobs, possible reforms that are aimed at addressing to the issue should invented as soon as possible. The reality is that the problem is potentially unsettling. The labour force should be well prepared in cases where technological change requires specific skills needed to deal with the changes. This will ensure that workers are not detrimentally affected by the introduction of new technology.

Reference List

Coffey, M. & Dunphy D. C. (2001).Technology and the workforce. Michigan: Technology Research Unit, N.S.W. Ministry of Technology for the Dept. of Organizational Behaviour.

Cross, M. (1999). Managing workforce reduction: an international survey. London: Routledge.

De Ferranti, D. (2003). Closing the gap in education and technology. New York: World Bank Publications.

Khosrowpour, M. (2000). Challenges of information technology management in the 21st century: 2000 Information Resources Management Association International Conference, Anchorage. Alaska: Group Inc (IGI).

National Research Council (2001). The changing nature of work: implications for occupational analysis. Sydney: National Academies Press.

Shultz K.S. & Adams G. A. (2007). Aging and work in the 21st century: Series in applied psychology. London: Routledge.

Waldeck, N. E. (2000). Advanced manufacturing technologies and workforce development. Garland studies on industrial productivity. New York: Garland.

Inferential Statistics: Movies And Behavior

Depending on the kinds of themes they expose, movies have different impacts on viewers. Action movies tend to promote violent behaviors when compared to comedies and dramas. The establishment of the relationship between the nature of films and the occurrence of violent acts among children is necessary. In essence, the analysis of the effects of movies on violent behavior provides critical information for appropriate parenting. The study of movies from 1937 to 1999 using inferential statistics would indicate whether they have significant effects on children. Inferential statistics aid in decision-making since they determine if the outcomes of data analysis are valid. Typically, alpha levels of 0.1, 0.05, and 0.90 are used as thresholds of rejecting or accepting a null hypothesis of a given study (Field, 2017). In this case, the alpha level of 0.05 will be used to determine if the exposure period to movies has unique and significant effects on violent behavior in children. Based on the hypothesis that movies have different effects, this analysis aims to evaluate and identify a period of movies that influence violent behaviors in children.

Independent T-Test

The independent t-test was used to test the null hypothesis that the two periods of movies do not have statistically significant differences in the mean number of injuries in children. By using SPSS, the independent t-test was employed to assess whether movies created in 1937-1980 or 1981-1999 have different effects on violent behavior among children. Before analysis, the dependent variable (the number of injuries) and the independent variable (the period of movies) were checked to ensure that they comply with major assumptions of the independent t-test. The dependent variable should exist on an interval or ratio scale, follow the normal distribution, possess homogenous variance, and be free of significant outliers (Field, 2017). In this test, the number of injuries meets these assumptions and generates robust results. Regarding the independent variable, the t-test assumption requires it to have two independent groups (Pallant, 2016). The independent variable conforms to this assumption as it categorizes movies into two groups, one period of 1937-1980 and another period of 1981-1999.

According to the results of the t-test (Table 1), the exposure period of 1937-1980 caused a statistically significantly lower number of injuries than the exposure period of 1981-1999 (M = 2.12), t(72) = -3.10, p = 0.003. These results suggest that recent movies created between 1981 and 1999 are more violent when compared to the ones produced in 1937-1980.

Table 1.

Independent Sample t-Test Results

Levene’s Test for Equality of Variances t-test for Equality of Means
F Sig. t df Sig. (2-tailed) Mean Difference Std. Error Difference 95% Confidence Interval of the Difference
Lower Upper
Injuries Equal variances assumed 9.439 .003 -3.100 72 .003 -1.379 .445 -2.265 -.492
Equal variances not assumed -3.914 71.100 .000 -1.379 .352 -2.081 -.676

One-Way ANOVA

The examination of the dependent variable of the number of injuries shows that it comply with the assumptions of homogeneity of variance and interval scale (Gravetter & Wallnau, 2017). Levene’s test indicates that there is equality of variances in the distribution of injuries in all the groups. The number of injuries exists on an interval scale to allow its analysis as the dependent variable in one-way ANOVA. Additionally, the scatter and Q-Q plots reveal that the number of injuries follows the normal distribution. Since the independent scale of the period of movies has three groups, it observes the assumption of required categories in ANOVA.

ANOVA was used to test the null hypothesis that the mean number of injuries in three periods of movies do not have statistically significant differences. Outcomes of ANOVA (Table 2) depict that the mean number of injuries were lowest in 1937-1950 (M = 1.00, SD = 1.044), moderate in 1961-1980 (M = 1.59, SD = 1.992), and highest in 1981-1999 (M = 1.95, SD = 1.974). These outcomes suggest that movies get violent with time because of the increasing number of injuries in children. Furthermore, standard deviations reveal that variations in the number of injuries increase as their means grow. However, ANOVA shows that the apparent increases in the number of injuries with the exposure periods are statistically insignificant, F(2,71) = 4.431, p = 0.284. The inference here is that the obvious differences in means of the number of injuries in the three periods are not enough to offer valid evidence to support the alternative hypothesis.

Table 2

ANOVA Results of Injuries in Three Periods

N Mean Std. Deviation Std. Error 95% Confidence Interval for Mean Minimum Maximum
Lower Bound Upper Bound
Period 1937-1960 12 1.00 1.044 .302 .34 1.66 0 3
Period 1961-1989 22 1.59 1.992 .425 .71 2.47 0 6
Period 1990-1999 40 1.95 1.974 .312 1.32 2.58 0 9
Total 74 1.69 1.872 .218 1.26 2.12 0 9

Descriptive statistics show that the period of 1937-1960 has the number of injuries ranging from 0 to 3 [CI: 0.34-1.66], while those of the period of 1961-1980 varies from 0 to 6 [CI 0.71-2.47]. The period of 1990-1999 has the highest mean number of injuries in which values range from 0 to 9 [CI: 126-2.12].

References

Field, A. P. (2017). Discovering statistics using IBM SPSS statistics (5th ed.). Thousand Oaks, CA: SAGE Publications.

Gravetter, F. J., & Wallnau, L. B. (2017). Statistics for the behavioral sciences. New York, NY: Cengage Learning.

Pallant, J. (2016). SPSS survival manual: A step-by-step guide to data analysis using SPSS (6th ed.). Maidenhead, England: Open University Press.

Appendix

SPSS Outputs

T-Test Outputs

Group Statistics

Independent Samples Test

ANOVA Outputs

Descriptives

ANOVA