Gaucher Disease: A Rarity in Three Types
Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest by far in the Ashkenazi Jewish population, making it the most common genetic disease within this ethnic group.
While the Type I Gaucher Disease is non-neuronopathic (not affecting the nervous system) the second two types are neuronopathic. Yet even though the three types of Gaucher produce different symptoms, all three types result from the same cause: a lack of glucocerebrosidase enzyme. The glucocerebrosidase enzyme functions to break down the compound glucocerebroside, a fatty compound which usually is stored in all cells of the body in very small amounts. In Gaucher patients, an excess of glucocerebroside builds up in the body, and is stored abnormally in lysosome, or storage cells (3) . Typically, macrophages are able to aid in the degradation process of glucocerebroside. However, due to the lack of glucocerebrosidase in Gaucher patients, glucocerebroside stays in the lysosome, preventing macrophages from acting upon them. Macrophages which are enlarged and contain an abnormal buildup of...
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...se exhibited in Type I .
Internet Sources:
1)Living With Gaucher Disease, from Massachusetts General Hospital
http://spauldingrehab.mgh.harvard.edu/gaucher/living.html
2)Gaucher Disease in Ashkenazic Jews
http://www.gauchersoutheast.com/articles/ashkenazic.html
3)The NTSAD Diseases Family: Gaucher Disease , from NTSAD
http://www.ntsad.org/pages/gaucher.htm
4)Gaucher Disease – Rare Disorders-Medstudent , from Medstudents.com
http://www.medstudents.com.br/raredi/raredi2.htm
5) Scientific American:Ask the Experts: Medicine -
What is Gaucher Disease? Are there treatments? , from Scientific American
http://www.sciam.com/askexpert_question.cfm?articleID=000F280F-76AF-1C71-9EB7809EC588F2D7
6) Health Topics A-Z: Gaucher Disease , from Ahealthyme.com
http://www.ahealthyme.com/topic/404.jhtml;jsessionid=J3IJ3KQK3XS0KCTYAEPC4EQ?_requestid=502549
Lysosomes contain hydrolytic enzymes which function in the acid of the lysosome and are meant to be secreted not as wastes into the extracellular fluids, but as secretory proteins into an intracellular organelle. When one of these enzymes is dysfunctional, the catabolism of its macromolecule does not completely occur and there is a buildup of the macromolecule inside the lysosome. This results in great numbers of large lysosomes which begin to interfere with the normal functions of the cell. This disorder is called lysosomal storage disorder. These disorders can eventually lead to the dysfunction of the organs. The organs affected by the disorder are determined by two factors: 1) The location in the body where the macromolecules that are to be catabolized are found, and 2) The location where the catabolism occurs.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
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There are many things which can drive a teen to commit suicide some of them are as simple as making fun of the “fat” kid in class; others can come from the mental images from witnessing a shooting. There are four major issues which contribute to teen suicide such as depression, family problems, risk factors, and teens reactions to there climate. Depression, unfortunately, is one of the biggest factors of today’s teenage suicide problems and some of the reasons for it are from the student’s own peers, “being depressed is triggered by loss or rejection (Joan 59).” Depression can be f...
Who would of ever thought that a little boy who grew up in the country would grow up to be a wonderful president! Well that’s exactly what happened to Zachary Taylor. He was born on November 24th, 1784 in Montebello, Orange County, Virginia. HE grew up on Beargrass creek, Louisville Kentucky. The Taylor family spent a great deal of time at the Springfield Farm, which had a large brick house on it. His family was large consisting of four brothers and, three sisters. Later on when he married Margaret Mackall Smith on June 21st, 1810, they had a large family also, five girls and one boy. During his lifetime, he spent a lot of his time and energy working and helping out on the farm. He also grew close to his riding horse, which he enjoyed. His old war-horse went by the name of Whitey. Unfortunately Taylor passed away on July 9th, 1850 in Washington D.C while he was still serving in office. His death was rather peculiar though. On July 4th, while at a party, Taylor was enjoying a bowl of cherries and glasses milk but suffered from cholera morbus for five days then died on July 9th.
Louis Jude Ferrigno was born November 19th 1951(Lou Ferrigno). As a child Lou Ferrigno lost the majority of his hearing around 75-80% of it (Lou Ferrigno). This was not diagnosed till the age of three. He did not allow this to hold him back from achieving greatness. Lou Ferrigno is one of the two most recognized bodybuilders of this generation. He has won numerous bodybuilding competitions and has acted and voiced in dozens of movies and television broadcasts. He became an American icon when he received the part as the Incredible Hulk in the CBS television broadcast. Lou Ferrigno had started to train with the barbell at the age of thirteen (Lou Ferrigno). Since a teenager he has looked up to two people, Arnold Schwarzenegger and Steve Reeves, who was the original Hercules, a role Lou would later play himself. In order to support his bodybuilding career he had to work in a metal factory. Due to the increasingly hazardous conditions his coworker had a serious injury that forced him to have his hand amputated (Lou Ferrigno). After this incident Lou went on to find a new means of support.
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Teen suicide can result from a number of scenarios. When you hear of teens who commit suicide, a lot of people would think it's due to the most common cases which are unhappiness or depression. But in fact, there are different factors to what causes suicide. For an example, as stated in the article Teen Suicide from Kids Health, teens attempt suicide for multiple reasons. These reasons revolve around psychological problems such as anxiety, bipolar disorders, or drug abuse or even dealing with bisexuality or homosexuality in an unsupportive family or hostile school environment. The individuals who usually face th...
The main two causes for teen suicide is the mental disease of depression and family
A problem today that should be addressed is suicide among teens and young adults. Several lives are taken every year due to several unknown and known factors. Terribly shameful knowing all the help and hope that’s out there for victims, while on the other hand none of the victims may have ever even known a proper way to seek help (Miller). Risk factors leading up to suicide (also the known factors) include but not limited to: mental illness, childhood issues, isolation and loneliness, bullying and broader issues such as loss and personal pain (Bower). Not only should suicide be looked at as a big deal it should be looked at for what it truly is; “the third leading cause of death for ages 15-24 (Bower).” The problem does not stop when no longer mentioned, that only leaves room for more problems to occur. Not everyone with suicidal thoughts is willing to seek help, making the problem too common, something our society must deal with more and more today (Teen). Suicide is an important issue that should not be overlooked or merely talked
Teen suicide is the leading cause of death in the nation next to cancer, heart disease, AIDS, birth defects, stroke, pneumonia, and influenza. 31,000 Americans committed suicide each year and thousands attempted it. The burden of suicide is longing in a family. It’s a hole in their family that can’t be filled. Suicide is an inexplicable act.
Prevention is the key to helping youth who are dealing with issues of suicide. By promoting prevention within one’s scope of practice and competence, one can educate youth on the signs putting one at risk for suicide, promote self-determination when working with the client, and create a movement for social justice/change. Working with the youth in a holistic approach with their parents could help create a sense of understanding and support that they may not have if the child believes no one will understand. Further research needs to be done on youth suicide to close the gap of statistics and the best strategies for working with youth.
90% of suicide victims suffer from depression. A teen going through depression may seem hopeless, have a lack of sleep or appetite, and interested. Helping depressed teens coop with their illness is also important in preventing suicide. Drug or alcohol use also are associated with suicide. Teens who partake in drug or alcohol use have a likelihood to continue destructive behavior by attempting suicide. If a teen witnessed suicide from another family member, they are three times more likely to commit suicide themselves. By seeing suicide being modeled as an acceptable coping mechanism, they contemplate suicide more seriously. Adolescents that undergo any type of stressful events in their life, have a higher chance of committing suicide because they do not understand how to cope with
To be brief, teen suicide is a major problem and should be taken seriously as it can be prevented. Adolescent suicide can be prevented if parents act as role models and teach effective ways to solve problems and cope with stress. Parents should also communicate openly with their teens about the problems in their lives. As has been mentioned, physical and emotional warning signs should be watched for as to indicate suicidal thoughts. In addition, adolescents who have psychological conditions or a substance abuse problem are at higher risks for suicidal tendencies. Furthermore, treatments for individuals experiencing suicidal thoughts are antidepressants or attending a group counseling session. All in all, suicide is a major factor especially among adolescents and needs to be addressed immediately. (“Teen Suicide” 6).