Osteogenesis Imperfecta

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this

I am a senior at Udall High School. I am involved in many activities including: Volleyball, Softball, Student Council, Yearbook, FBLA, and Forensics. I am the youngest of six siblings in which three others also graduated from Udall. I will attend a four or two year college my first years, and then to attend Oklahoma University where I will begin medical school.

Living with fibrodysplasia ossificans progressiva is obviously challenging given the sparse medical knowledge of the disease. Within the first decade of a child’s life, patients will develop agonizing and inflamed soft tissue swellings in their back or neck. Fibrodysplasia ossificans progressiva patients must be extremely cautious in their daily lives. Any minor trauma such as blunt muscle impacts, dental work, muscle fatigue, and influenza- like illnesses can cause painful flare-ups which expedites heterotopic ossification process for new bone growth. By the third decade of their lives, patients are usually confined to a wheelchair requiring lifelong assistance in daily activities (Taslimi, Jafarpour & Hassanpour, 2013). As fibrodysplasia

Fibrodysplasia ossificans progressiva is a rare and incapacitating condition of skeletal malformations and progressive heterotopic ossification. It was originally called myositis ossificans progressive (MOP) and was discovered by a French physician, Guy Patin, who came across a patient who had FOP. He described the patient to have “swellings” in his back (History of FOP, 2009). They changed it from MOP to FOP because other fibrous tissues in addition to muscle are replaced by bone. FOP causes excessive bone growth and begins in the early stages of life.

Breaking a bone is an injury that some people experience maybe once or a few times throughout their life, but for the people who are diagnosed with osteogenesis imperfecta, their lives are very different. Osteogenesis imperfecta (OI), otherwise known as brittle bone disease, is a genetic disorder that causes bones to break very easily with little to no apparent trauma. Dealing with broken bones often becomes the norm for people who are diagnosed with this condition. The severity between different types of OI can range from mild to very severe, causing death before or shortly after birth. Although OI is rare, the people diagnosed often have other associated health problems with their joints, skeletal structure, and dental health.1 OI affects

Her UBW (six months ago) was 158 lbs. A DEXA (dual emission x-ray absorptiometry) scan of the lumbar spine is done to rule out osteoporosis/osteopenia, caused by nutrient mal-absorption of calcium resulting from lactose intolerances. The DEXA scan shows a t-score of -2.4 indicating proof of osteopenia (Osteopenia-Overview, n.d.). The patient’s medical history of lactose intolerance, physical composition, sex, age, menopausal status, and t-score of -2.4 verify the diagnoses of osteopenia. Medication treatment can include calcium supplements, vitamin D supplements, bisphosphonates, calcitonin, teriparatide, denosumab, raloxifene, and hormone replacement therapy (rarely used) (Osteopenia-Overview, n.d.). To stop bone loss a yearly Reclast injection is administered, a recommendation of implementing daily low impact physical activity, and yearly bone density tests to monitor development of osteoporosis. The patient should continue taking all previous medications and

FOP, also known as Fibrodysplasia ossificans progressiva, is a rare genetic condition. Approximately, there are about one in every two million births that get this rare disease. Sadly, a little boy named Josh was one in those 2 million births who received this rare disease. People’s lives are affected with this disease because it causes bone to form from soft tissue and usually by the victims 40s; it confines them to immobility before it takes their life. This is evident because of Dr. Snyderman’s facts, the symptoms of FOP, and how it is affecting him with just doing simple things.

The article opens with a brief statement regarding a type of conditions termed “vanishing bone” syndrome. When a person suffers from a vanishing bone syndrome, osteolysis may occur. Ostelysis is a condition in which bone may disappear or be destroyed in a pathological manner. It takes place naturally within the body, due to a genetic mutation. Winchester syndrome was one of the initial forms of vanishing bone syndrome to be recognized. Two sisters suffered from the disease whose parents were phenotypically healthy, first cousins. Both of the girls suffered from severe osteolysis. Their condition affected the digits, major joints, heart, eyes, gums, and other various aspects of the musculoskeletal system.

My name is Drew Schwenk and I am a senior at St. Francis DeSales High School. I intend to study chemistry or biochemistry at either Washington University in St. Louis, Notre Dame, or The Ohio State University. I am currently enrolled in a class at Nationwide Children’s Hospital called Mechanisms of Human Health and Disease where I am learning about the subjects of anatomy, molecular cancer biology, and biochemistry, as well as developing real world skills like networking. I chose to study the disease MERS because it is exciting to learn about and to follow breakthroughs of a newly discovered viral disease.

Osteogenesis Imperfecta is a disorder that results in fragile bones that break easily. Many tend to think that it can be developed at any given time, but it only develops in children who have had the disease embedded in the family's past, along with defective genes. These genetic abnormalities reduce the amount of type I collagen produced in the body, which causes bones to be brittle, weak and fracture/break easily.

Bone disease is a silent disorder that may lead to pain and deformity. (NCBI, paragraph 1). NCBI resources mention that1.5 million osteoporotic fractures in the U.S leads to more than half a million of hospitalizations, about 800,000 emergency room encounters, about more than 2,600,000 physician office visits, and about 180,000 individuals are placed into nursing homes. (NCBI, paragraph 2), Caring for fractures from bone disease is expensive, ranging from $12 to $18 billion per year in 2002 and will increase over the years causing individuals and their families a devastating impact. (NCBI paragraph3). Some die from bone disease, many spirals downward in their physical and mental health that result in death, especially during the first year after the fracture. (NCBI, paragraph 4). People who suffer from fractures experience severe pain, height loss, lose the ability to dress themselves, stand up, and walk causing them to be at risk of pressure sores pneumonia, and urinary tract infections. (NCBI, paragraph 5)

Skeletal deformities (spinal kyphosis and bowed legs ) , often compression of vertebrae , shorting patient's trunk

Hypothesized contributing factors are genetic predisposition, psychological stress, hormones, joint trauma or viral infection (Weiss, 2005, Armon, 2014 & Lin, 2016). Recent literature shows that patients with JIA have an adaptive immune system, particularly T cells. Furthermore, JIA may be antigen driven and lymphocyte mediated causing an inappropriate generation of inflammation, lacking a normal anti-inflammatory balance (Weiss, 2005). Prolonged inflammation stimulates premature closure of the growth plate that leads to localized bone growth disturbances, causing limb length discrepancy (Borros, 2010). Causes of generalized growth disturbances can be metabolic, endocrinology or malnutrition (Weiss, 2005). The patient may be at further risk of osteopenia and osteoporosis due to corticosteroids use and lack of exercise, which decreases peak bone mass in adolescence and increases fracture