Why The Nurological Effects Of The Recessively Inherited Gaucher Disease?

For this past week, I was an intern for Week 7 of the Harvard Medical School MEDscience Summer Program which offers a total of nine sessions of a week-long summer medical intensives for high school students. 13 students passionate about science, medicine, and healthcare come together from all over the country and even Canada to take advantage of the unique opportunities MEDscience offers. In general, there are very few medical programs in the country gear towards high school students whether it be because of age and education level, laws and hospital policy, or costs. Most of the medicine-related summer programs you can find for high school students are those in which you’d sit in a classroom all day and learn what you could have learned

Since starting, I have step-by-step integrated myself into various aspects of the clinic, although I admit that I still have a lot to learn. I plan on volunteering there long after this internship is over, so hopefully those things will eventually come. Volunteering there has illustrated the joy of healthcare that I have always imagined. Even if the private sector of healthcare is like Maliheh, as a doctor, I will make volunteer work a core tenet of my life. These experiences over my internship have helped contribute to that burning desire.

In the past twenty years, many drugs have been developed to treat the disease. Although the cause of Parkinson's disease is still unknown, scientists have been developing methods of treatment and therapy. The idea is to replace dopamine in the brain, which is accomplished, to some extent, with the administration of L-Dopa. In conjunction with other drugs, L- Dopa "inhibits the enzymes that break down L-dopa in the liver, thus making a greater part of it available to the brain" (5). This treatment is very successful, but it only hinders the disease for a time and it is by no means a cure. That leaves us with stem-cells and the role they play in treatment of Parkinson's disease.

For my internship, I served under the Allegheny County Health Department in Pittsburgh, PA. I served as the National Health Corps Member for the Women, Infants, and Children Program as their Care Coordinator for all nine offices. Women, Infants, and Children (WIC) is a supplemental nutrition agency that targets pregnant and postpartum women and young children ages 5 and under who are at risk of malnutrition. My supervisor Annie Nagy along with my mentors in the office made sure I was able to receive all of the materials and resources I would need to have a complete and successful internship.

lead student panels for both medical school applicants as well as current medical students. I have served as a representative

Being a part of the Health Professions Academy has granted me an oppurtunity to participate in a hospital internship at the North Shore Forest Hills Hospital . This amazing oppurtunity has allowed me

I’ve been grateful for this opportunity to immerse myself in the medical workplace and learn from actual doctors. My internship has allowed me to see the real side of medicine—that it is more than just “playing doctor” --it is hard work and calls for dedication to your profession. It has helped me to understand that going into the healthcare field requires passion for helping and caring for people. I can see this every day in the nurses and surgeons I work with and enjoy working alongside

The purpose of this study was to see whether implanted embryonic dopamine neurons in Parkinson's disease patients led to a relieve of symptoms and also to see whether age played a role in whether the implanted neurons survived. All the participants were patients with Parkinson's disease who had if for at least seven years and had all three signs of Parkinson's disease. The patients were placed in groups of ten, some were given sham surgery and others transplantation. This was a double blind study. What was found was that patients who were 60 or younger actually responded better to the treatment and of the 40 patients only 39 actually completed the study, one of the patients died in a car crash before the study was finished the study lasted for a whole year. Also only patients who were 60 or younger reported positive feedback like showing actual improvement. The other patients were actually showing negative results which is not good because that meant that the disease was actually getting worse. The scores of one of the tests used showed some differences between the sham group and transplant group when not

This summer has by far been the most meaningful due to my internship at the Lloyd Moss Free Clinic. I had a wonderful opportunity to use my summer before college to explore healthcare professions and learn how a free clinic functions. Throughout my experience, I was exposed to many different professions within a clinic. My daily task consists of a wide variety of activities. I would begin by sorting and filing patient document, gathering charts for upcoming appointments, and helping the clinical operations director with projects regarding referrals. Then, I would continue my day at the call center. While assisting at the call center, I was able to learn what exactly each department handles at the clinic and I was exposed to a variety of terms

Gaucher disease is an abnormality fat of storage. It is an increasingly genetic and very rare disorder that is most common in family members. The people who suffer the most, have consequences in the lack of of levels of a certain enzyme in the body. Because of this, a fatty lipid spreads throughout one’s human body. This disease is also known to be called lysosomal storage disorder. This type of disorder can cause symptoms to happen at any time of your life, whether it is childhood or adulthood. How can you get this disease? You can get it from parents who struggle with the cells in their body. “The enzyme that is not working well in Gaucher disease is called glucocerebrosidase. This enzyme helps the body break down glucocerebroside, a fatty

Parkinson’s disease is affected by the degeneration of dopaminergic neurons which is responsible to produce dopamine. Dopaminergic neurons have their cell bodies in substantia nigra pars compacta (SNpc) in basal ganglia (O’Sullivan and Schmitz, 2007). Basal ganglia are a collection of interconnected gray matter nuclear masses deep within the brain”. These gray matter masses are caudate, putamen, globus pallidus, subthalamic nucleus and the substantia nigra. Basal ganglia receive its input through striatum (O’Sullivan and Schmitz, 2007).

Charcot examined a large group of patients within Salpetriere Hospital in Paris, he had developed a way to observe tremors in action and at rest. “He noted that the patients with action tremor had accompanying features of weakness, spasticity, and visual disturbance. In contrast, those with rest tremor differed in having rigidity, slowed movements, a typical hunched posture, and very soft spoken.” (Goetz 2011) Charcot early tremor studies helped to establish Parkinson’s Disease through his very high publicized findings that neurological entity could be confidently be diagnosed. In 1957 a Swedish scientist Arvid Carlsson found out that dopamine in the brain region that is important for movement control. He showed that the levels of dopamine can be reduced in animals to cause symptoms of Parkinson’s Disease and also by giving the animals levodopa (L-dopa) to reverse the symptoms of PD. PD is second most common neurodegenerative after Alzheimer’s Disease and the most common movement disorder. Over 60,000 people here in the United States are diagnosed every year but they say the numbers can be much higher with undiagnosed people out there but over one million people live with Parkinson daily.10 million people worldwide live with Parkinson’s Disease and April 11th is World Parkinson’s Day. On April 11th, 2017 marked 200 years since James Parkinson publicized his essay.

I found some additional information on the treatment of Gaucher disease. In 2014 a new drug was approved for the treatment of type 1 form of Gaucher disease. The drug is called Cerdelga. It is a gelatin capsule containing eliglustat that can be taken orally. The drug works by slowing the production of fatty material to deposit in the spleen, liver and bone marrow. Studies show that Cerdelga resulted in a greater reduction in spleen volume and improvement in live volume, blood platelet count and red blood cell count. The side effects associated with Cerdelga includes: fatigue, nausea, diarrhea, back pain and upper abdominal pain.

Parkinson disease (PD) is a progressive neurodegenerative disorder characterized mainly by physical and psychological disabilities. This disorder was named after James Parkinson, an English physician who first described it as shaking palsy in 1817 (Goetz, Factr, and Weiner, 2002). Jean- Martin Charcot, who was a French neurologist, then progressed and further refined the description of the disease and identified other clinical features of PD (Goetz, Factr, and Weiner, 2002). PD involves the loss of cells that produce the neurotransmitter dopamine in a part of the brain stem called the substansia nigra, which results in several signs and symptoms (Byrd, Marks, and Starr, 2000). It is manifested clinically by tremor,

under the guidance of Dr. Dawn Koetting. I was able to gain hands-on experience in a veterinary clinic and made several observations that have become deciding factors to my career choice. The overall experience that I had at the clinic was extraordinary. The staff was supportive and eager to teach me things about veterinary medicine and what was to come if I were to peruse this career. Dr. Koetting was especially helpful in advising me. She has given me several suggestions as to how to improve my resume for Vet School and the requirements that I need to meet to be accepted. I am very thankful that the staff at this clinic have allowed me to conduct this internship and am appreciative of all the guidance they have given me. I learned so much information in the time that I spent there, and all of it will help me in my future endeavors.