Saturday, August 31, 2013

Disease/Disorder/Syndrome of the Week: Prader-Willi Syndrome

Hello! I have decided to start a weekly series on this blog, featuring a disease/disorder/syndrome every Saturday. I will try to include symptoms, prevalence, treatment options, links to more information, links to research organizations, etc. While reading my Behavior Genetics textbook, I came across information concerning Prader-Willi Syndrome, and I thought that would be a good place to start.

Logo for the Prader-Willi Syndrome Association
 Prader-Willi Syndrome is a rare congenital disease that develops due to the deletion or non-expression of seven genes on the paternally-inherited copy of chromosome 15. When this same genetic malfunction is inherited on the maternal chromosome 15, the similar Angelman Syndrome results instead. PWS affects between 1 in 10,000 and 1 in 25,000 live births and is diagnosed through genetic testing.

Prader-Willi Syndrome encompasses a wide variety of signs and symptoms that can change and vary throughout life. Some of these include excessive amniotic fluid in utero, hypotonia, difficulties feeding and respirating as infants, hypogonadism, cryptorchidism in males, delayed puberty, delayed intellectual milestones and tendency to have lower IQs, hyperphagia starting in childhood, short stature, prominent nasal bridges, downturned mouth, almond shaped eyes, obesity (in fact, PWS is the most common genetic cause of morbid obesity in children today) and infertility. Cognitive abilities include poor speech and information processing, but often strong visuospatial skills. Deficits in short-term memory and attention span are also often observed. Many individuals with PWS exhibit compulsive behaviors, most commonly skin-picking. The effects on appetite and weight gain are thought to be linked in hypothalamus malfunctions.

There is currently no cure for PWS, although speech and occupational therapies have been shown to be effective, as well as a highly structured learning environment. Daily recombinant growth hormone injections are also recommended. As the most harmful health effect of the syndrome is the severe obesity caused by the characteristic insatiable appetite, sleep apnea, coronary artery disease and other common diseases of obesity are frequently comorbid with PWS and are treated accordingly.

In 2006, the British documentary Can't Stop Eating aired, which chronicled the lives of several individuals with PWS.

For more information on PWS, as well as see what research is being done or how you can get involved, you can check out the Foundation for Prader-Willi Research website.

Thank you for reading! I hope you have a great Labor Day weekend and continue to wish you luck in all your medical endeavors. :)

Tuesday, August 27, 2013

Another Study Tip

Just thought I would leave one more study tip today:

For those of you who have not heard of it, Khan Academy is a wonderful tool for learning outside of your class. It is a website with over 3000 videos covering many topics, mostly math and sciences. I have used it extensively (especially in general chemistry, and I am already using it for organic). For anyone who learns well from a visual-audio combination but would like to be able to pause and rewind lectures it is a fantastic resource, and it's free! Hope this helps!

Senior Year Has Begun!

I have one more class today, at 11:30, but other than that I have had all my classes at least once. It's looking like a tough semester, but a really interesting one overall.

Study tip: I don't  know if anybody else would find this helpful, but during the first week of classes, as I get all my syllabi, I tend to make a sort of master syllabus for myself. I go through all of my readings and assignments and exam dates for every class and compile them into one comprehensive to-do list, organized by due date. Here is a sample of part of mine:

8/26: SPAN read Ch Preliminar B
8/27: BGEN read Ch 1
         DRUG Keltner article      
         DRUG Iversen article 
8/28: ORG read/notecard Ch 1
         ANAT Ch 1
And so on, with SPAN being Spanish, BGEN being Behavior Genetics, DRUG being Drug Therapy, ORG being Organic Chemistry and ANAT being Anatomy.

I really like this method because it keeps me extremely organized and on top of all of my classes. And I check it every day, so I never miss anything or let one class or assignment fall by the wayside.

Anyway, I will be updating more soon as my semester really gets underway. I am going to the Bodies Exhibit this weekend (as part of planning a larger trip for my whole fraternity later in the semester) so I will definitely post about that. For now, I hope your school years are starting off well and here is a link to the first of several autopsy videos in a series by Gunther von Hagans, inventor of the plastination process that made the Bodies Exhibit possible. They are really informative and all free on YouTube. Enjoy! :)

Tuesday, August 20, 2013

Leaving for School Tomorrow!

Tomorrow morning (at like 6 AM) I am leaving to go back to school! Totally stressing out because I have barely put a dent in my packing and I have a ten hour work day to get through before I can finish, but oh well. Hopefully that doesn't set the tone for my semester.

Here are the classes that I am taking:
Sociology of Medicine
Organic Chemistry
Spanish 102
Behavior Genetics (basically neurogenetics)
Drug Therapy (basically therapeutic psychopharmacology)

Plus my new nursing home job, my medical fraternity and the fire dept I do EMS for. Time management is going to be pretty difficult, but it's doable. I have already started studying for most of these classes (as soon as I finish this post I am going back to studying for Orgo), so I hope that head start will help me get off on the right foot.

If y'all hang in there with me I promise to try to keep this blog focused on important pre-med/medical things and avoid stressed-out rants as much as possible. :)

For now, here is a link to a really interesting article in Nature about biomarkers in blood samples that could help predict and prevent suicidal behavior.

Have a great rest of your day!

Friday, August 16, 2013

a posse ad esse

It is 1:52 AM, and today is my twenty-first birthday. In just over a week, I start my senior year of college. I honestly couldn't tell you how I feel about that.

I spent much of yesterday talking with a good friend, a writer, on a hike through one of our favorite places. I was struck all at once by the significance and enormity of the next several years of my life, along my journey to become a doctor. These years will have an extraordinary effect on the path my life takes, and I was lamenting my inability to keep a journal going. But then I had this idea.

College is hard. Being pre med is even more so. I think about medical school every single day, several times a day, wondering and worrying constantly about whether I'll get in, whether I can handle it, whether I'll come out of it all and be able to be the kind of doctor my idealistic present self wants me to be. Every one of my pre med friends feels the same way. So I thought that if I could chronicle my journey through this whole process, my life and adventures along the way, then maybe I could help out those students who come after. Maybe I can help them feel like they CAN be successful in this, if they want it bad enough. Or maybe I will fall flat on my face and not make it and y'all can learn from my mistakes. I don't know. But I guess it's worth a shot. :)

A posse ad esse is a Latin phrase, one of my grandfather's favorites. It means, essentially, from possibility to actuality. And that is what I hope to achieve with this project; a story of focused passion and work ethic that results in success in medicine. Hopefully, I can include some fun along the way. My goal is not to sound arrogant or presumptuous. I just want to be a resource, because I for one could use some on this road.

So if you're interested in medicine or if you just want to come along for the ride, I hope you find this blog an enjoyable read. I look forward to your feedback.

-Johannah :)