Monday, July 19, 2010

Katie - week 5

This week was filled with a variety of activities, which kept the days very interesting. I had the opportunity to attend the center for skeletal dysplasia, led by Dr. Raggio on the 3rd floor of HSS. Here, they see patients with a variety of skeletal dysplasias, including osteogenesis imperfecta and achondrogenesis (the two most popular that are dealt with at this center). It is a fun environment that involves a large number of people. Throughout the day, each patient meets with some or all of the following, depending on their needs: orthopedic surgeon, social worker, nutritionalist, geneticist, and genetic counselor. The team works really well together, and it is obvious how much they care for each of the patients. As those with OI or Achon have to deal with the disabilities and issues their entire lives, the doctors usual develop very long-term relationships with them.

As my research at Cornell relates to mechanical sensitivity of bone and the pathways involved in bone development and maintenance, I am intrigued by all things related to bone. Recently, I had read a novel where the main character had osteogenesis imperfecta, and so I was ecstatic to be able to see patients in real life. OI is characterized by small stature, bowed bones, and low bone mineral density, usually due to a mutation in the gene that codes for collagen type I. There are many types of OI (at least 8), and the research is still growing, as type VIII was just identified earlier this year. Some of the types are fatal, while others only mildly inhibit growth. One of the most interesting things I saw with OI patients was that one child had a bone density score of -8.5! This means that her bone density is 8.5 standard deviations below the normal for her age and gender. To be considered osteoporotic, one's bone density must be -2.5 or lower, and so this -8.5 is tremendous. Dr. Raggio says it might be one of the lowest if not the lowest bond density score she has ever seen. This causes a huge increase in fracture risk, and so great precautions must be taken to protect the skeleton through diet, and to try and strengthen the bones while at the same time not overworking them.

Achondroplasia is the most common form of dwarfism, and is charactized by an enlarged forehead, short stature, trident hands, among other symptoms. It is caused by an autosomal dominant mutation in the gene coding for fibroblast growth factor receptor, which results in problems with cartilage growth plate differentiation and deficient endochondral growth.

Also this week, I was able to shadow Dr. Sperling in the ER, an experience I was really looking forward to. To start off the day, Dr. Sperling gave us a quick tour of the whole ER department. We got to see where patients came in and how they decided the severity of the symptoms. Some patients are sent over to Urgent Care, while others stay in the ER department, with some accelerated due to severity (i.e. chest pains). It was interesting to get a quick overview of the infrastructure. During the day, I did not get to see any sever trauma cases (good news for the patients) but was able to shadow doctors on a number of different cases. One case was a woman who comes in twice a week to get her bandage on a wound replaced and is probably addicted to pain medication. I was impressed with the way the doctors handled her with such a professional and kind manner. Dr. Sperling explained to me that, by law, they must treat everyone who walks in the doors, and I admire them for treating everyone with respect.

One interesting case I saw was a woman who began suffering from a seizure all of a sudden. I was surprised at the disorganization of the process. From watching medical drama on television, I was made to think that any time a crisis arises, it is handled in a hectic but completely efficient way. In this instance, the janitor was the one who alerted the doctors to the seizure, and the nurses were flustered because at first they could not get a straight answer as to the patient's name so that they could administer the correct medicine, and then they were unsure if the patient already had an IV intact. Luckily, they were able to act quick enough to get the seizure under control.

Also this week, I made significant progress on my knee implant retrieval study. I have now analyzed all 38 of the implants, both articular and backside surfaces, ten areas on each surface, 7 modes of wear for each area. Next, I will be getting the data from the mobile bearing implants to which we are comparing our implants so that we can begin to compare the results. I am very interested to see the results of hours spent looking through a dissecting microscope!

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