So, for Anthropology 300, Physical Anthropology, I had to research a genetic disease and compile relative information on it.  I was assigned Prader-Willi Syndrome and this is the paper I just turned in at 8:30am although I finished the majority of it last night at Starbucks but the Wifi was so slow and my friends seemed to migrate towards me like I was a black hole.  To be honest, I was kind of glad they did because it really is hard to be sad and depressed when all of your friends are around.  I dropped my Samsung Galaxy Note 2 last night and cracked the screen,  Repacement / Repair is $10 in parts but I lack the necessary tools and to be honest, skills, to do it.  So having someone else do it ranges from the insane $109 to $60.  Hopefully, I will have it fixed today.  Maybe.  Shit.  Sometimes, I hate aspects of my life.


The primary source for my paper is:  http://www.fpwr.org/about-prader-willi-syndrome

Autosomal refers to any chromosome that is not a sex chromosome. Sex linked means that the trait or disease is linked to sex chromosomes.  Prader-Willi Syndrom is caused by a deletion at location 15q11.2 and therefore is not sex linked.  Dominant means that a trait is more likely to be expressed and recessive traits are less likely to be expressed.  This disease is caused by a deletion of a section of chromosome 15 which is inherited from the father.  In rare cases this disease can be caused when a child gets two copies of this gene from their mother instead of one from each parent.  This disease is neither dominant or recessive and appears to be caused by a spontaneous mutation.  Prader-Willi Syndrom was first described in 1956 by Andrea Prader, Alexis Labhart and Heinrich Willi.  The two most noteable effects of the disease are slow growth and development combined with unregulated appetite that often causes obhesity.  All of the current treatments target the individual symptoms but so far nothing has been found to help control the appetite isssues.  Treatment for low hormones can be achieved using the standard medicines used today.

The following information comes from this site:  http://omim.org/entry/176270 which was linked to from:  http://ghr.nlm.nih.gov/condition/prader-willi-syndrome#definition

A study of 10 African American patients with PWS found that growth is significantly less effected in them and that it could be underdiagnosed in this population.

Since the symptoms of this disease are so broad spectrum, most of the treatments are designed to counter the growth and developmental aspects of the disease.  In 2000, the FDA approved Human Growth Hormone injections and to date it is the only approved drug for treating PWS.  So the current medications used to counter these same symptoms caused by different causes in the general population are used to try and counter the majority of the symptoms of this disease.  The most serious side effect is an insatiable appetite that begins at an early age and causes the child to overeat and gain weight.  Without preventative measures, the child will  quickly become morbidly obese.  This drive to over eat is rooted in the disease and in the brain so it never goes away and current treatments for suppressing appetite do not work with people who have PWS.  So there is some excitement about a clinical trial that is underway:  http://clinicaltrials.gov/ct2/show/NCT02013258

This clinical trial will use a nasal spray to deliver oxytocin to some and a placebo to others in the hopes that those receiving the oxytcin see a reduction in their insatiable appetites and some social behaviors related to PWS.  Oxytocin is a hormone that has an effect on appetite and moods along with other body functions.

From the http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments site:

Another symptom of PWS is daytime sleepiness that is often overlooked when people describe the symptoms of the disease and this can be very detrimental to the success of the child at school or the adult in life.  There was a trial done using modafinil which is used to treat some of the symptoms of narcolepsy but this was an open trial, not a double blind study but the results are still compelling.
The primary source for my paper is:  http://www.fpwr.org/about-prader-willi-syndrome

Autosomal refers to any chromosome that is not a sex chromosome. Sex linked means that the trait or disease is linked to sex chromosomes.  Prader-Willi Syndrom is caused by a deletion at location 15q11.2 and therefore is not sex linked.  Dominant means that a trait is more likely to be expressed and recessive traits are less likely to be expressed.  This disease is caused by a deletion of a section of chromosome 15 which is inherited from the father.  In rare cases this disease can be caused when a child gets two copies of this gene from their mother instead of one from each parent.  This disease is neither dominant or recessive and appears to be caused by a spontaneous mutation.  Prader-Willi Syndrom was first described in 1956 by Andrea Prader, Alexis Labhart and Heinrich Willi.  The two most noteable effects of the disease are slow growth and development combined with unregulated appetite that often causes obhesity.  All of the current treatments target the individual symptoms but so far nothing has been found to help control the appetite isssues.  Treatment for low hormones can be achieved using the standard medicines used today.

The following information comes from this site:  http://omim.org/entry/176270 which was linked to from:  http://ghr.nlm.nih.gov/condition/prader-willi-syndrome#definition

A study of 10 African American patients with PWS found that growth is significantly less effected in them and that it could be underdiagnosed in this population.

Since the symptoms of this disease are so broad spectrum, most of the treatments are designed to counter the growth and developmental aspects of the disease.  In 2000, the FDA approved Human Growth Hormone injections and to date it is the only approved drug for treating PWS.  So the current medications used to counter these same symptoms caused by different causes in the general population are used to try and counter the majority of the symptoms of this disease.  The most serious side effect is an insatiable appetite that begins at an early age and causes the child to overeat and gain weight.  Without preventative measures, the child will  quickly become morbidly obese.  This drive to over eat is rooted in the disease and in the brain so it never goes away and current treatments for suppressing appetite do not work with people who have PWS.  So there is some excitement about a clinical trial that is underway:  http://clinicaltrials.gov/ct2/show/NCT02013258

This clinical trial will use a nasal spray to deliver oxytocin to some and a placebo to others in the hopes that those receiving the oxytcin see a reduction in their insatiable appetites and some social behaviors related to PWS.  Oxytocin is a hormone that has an effect on appetite and moods along with other body functions.

From the http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments site:

Another symptom of PWS is daytime sleepiness that is often overlooked when people describe the symptoms of the disease and this can be very detrimental to the success of the child at school or the adult in life.  There was a trial done using modafinil which is used to treat some of the symptoms of narcolepsy but this was an open trial, not a double blind study but the results are still compelling.


anth300exam1

 

I think I did a good job.  Sure, it may seem like an easy task and in all reality it is.  The problem comes from the fact that you have to use your own words or it is plagiarism.  This means that you have to have at least a modest understanding of the topic at hand.  In this regard, I understood all of the information that I was putting forth and it showed in the comments from my professor.  This is why I love this professor, because she pushes us to push ourselves to not over-think and to strive to do the best that we can.  She has given me the confidence I was lacking after dropping the ball in MATH103.  It wasn’t the material or my absorption of what the teacher was teaching, it was purely environment and situations outside of the classroom as is indicated by my performance so far this semester in the same class with a different, and in my opinion, not as proficient at conveying the topic as my previous professor.  Yeah Me!

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About Old Guy Student

I am a 43 year old IT Consultant who has decided to go back to school and get a degree.

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