Monday, March 31, 2008

Sjogren's Syndrome





  • Sjogren's ( show grins) syndrome is an autoimmune disorder that is often accompanied by a connective tissue disorder such as rheumatoid arthritis or lupus. The cause is unknown, but factors such as heredity, hormones, infection, and the nervous system can play a part. With this syndrome, the white blood cells attack the moisture producing glands, and in rare cases may even damage lungs, kidneys, and liver. If you have primary Sjogren's, then there is no direct cause, but if you have secondary Sjogren's then it may be from another disease.

    This syndrome is hard to diagnose because it mimics other diseases and medication side effects. However, it is more common in women, especially over the age of 40. Signs and symptoms include:


  • dry eyes and mouth


  • dental cavities


  • fatigue


  • enlarged parotid gland


  • difficulty swallowing/chewing


  • change in sense of taste


  • hoarseness


  • oral yeast infections


  • skin rashes or dry skin


  • vaginal dryness


  • dry, non productive cough


  • joint pain, swelling, and stiffness

There are different screening tests to diagnose Sjogrens. These include, blood test, eye test, imaging (sialogram, salivary scintigraphy, and chest xray), biopsy, urine sample, and slit lamp exam.

Complications are similar to symptoms, but in rare instance people may develop lymphoma, and peripheral nervous system disorders.

There is no cure, but you can treat the symptoms with a variety of medication. Surgery is sometimes and option. It is also important to increase fluid intake, use of moisturizers, eye drops, and nasal sprays, and have increased humidity.

Sources:

mayoclinic.com

www.orthop.washington.edu

Saturday, March 22, 2008

Achondroplasia

Achondroplasia is the most common type of short limbed dwarfism. It is a disorder in bone growth. Though achondroplasia literally means " without cartilage formation," the problem is really the cartilage not forming into bone, especially in the long bones.

Achondroplasia is caused by a FGFR3 mutation. This gene provides the instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. The mutations cause the gene to be overly active. A fetal ultrasound can be done to diagnose this condition, or a physical can be performed once the child is born.

This disorder is inherited through an autosomal dominant pattern, and a parent with achondroplasia has a 50% chance of their child being born with the same disorder. However, 80% of children are born to average size adult parents because of the mutation somewhere in the family genes.

People with achondroplasia are short in stature. The average male is 4'4" and the average female is 4'1". They have an average trunk size, but short arms and legs, especially upper arms and thighs, and have limited elbow movement. They also have an enlarged head and prominent forehead, sway back and bowed legs. People with achondroplasia are prone to having breathingproblems, obesity, and ear infections.


There is no cure or way to prevent for achondroplasia.

References:
http://www.healthsystem.virginia.edu/UVAHealth/peds_diabetes/achondro.cfm
http://ghr.nlm.nih.gov/condition=achondroplasia
http://www.radpod.org/2007/03/30/achondroplasia/
www.lucinafoundation.org

Monday, March 17, 2008

Orbital Blow Out Fractures

An orbital blow out fracture is when the "eye socket" is fractured. The most common injury is done to the floor of the socket, but the wall and roof may also be affected. Blow out fractures are usually a result of blunt force trauma to the eye. The orbital rim is so strong that the impact is usually transferred to the floor of the orbit, which then "blows out." A CT is usually done to better see the fracture. A blow out fracture is evident because it most commonly goes down into the maxillary sinus.

A person with a blow out fracture will experience pain and tenderness around the eye, swelling, and in some cases double vision. If there is double vision, the extra ocular muscles that move the eye may be trapped in the fracture, or it could be due to the swelling and hemorrhaging around the eye. Surgery may be performed within a few days or up to 1-2 weeks is there is muscle entrapment or double vision. During that time, it is recommended that a person not blow their nose. Oral antibiotics may also be given to reduce the chance for infection.

Information was found at http://www.eyemdlink.com/
Picture was found at http://www.learningradiology.com/