Research Paper On Paget's Disease

Although, Susan changed her major several times she never finished college. Susan chose different majors to try and find what fit best for her. With all of the majors, she tried she couldn’t find one that she enjoyed long enough to complete the program. Susan went to community college for three years. During the three years she was enrolled she majored in nursing, business administration, education, and sociology. Susan admits that she has never been really good at school, and she only chose two of the majors because her friends chose them.

Hirsch sprung disease is a disease that shows several Signs and symptoms. Approximately more than 75% of children with Hirsch sprung disease show symptoms in the beginning of six weeks of their lives. Newborns frequently begin showing symptoms with in the earliest 24 to 48 hours of life. the most common signs and symptoms infants may experience during Hirsch sprung disease are as the following: Not having a bowel movement in the first 48 hours of life, gradual swelling of the belly, gradual onset of vomiting, fever, sepsis (overwhelming infection), growth failure, refusal to feed, easily palpable fecal mass, foul smelling stool, constipation or a condition in which there is difficulty in emptying the bowels that usually associated with hardened feces that worsens over time, and Small watery stool( Cincinnati children's hospital,2017)

Erythema Infectiosum is called fifth disease. It is a mild illness caused by a virus. This virus most commonly occurs in children. The disease usually causes a bright red rash that appears on both cheeks. The rash has a "slapped cheek" appearance. Before the rash, the patient usually has a low-grade fever, mild upper respiratory symptoms, and a headache. One to three days after the cheek rash appears, a pink, lacy rash appears on the body, arms, and legs. This rash may come and go for up to 5 weeks. It often gets brighter following warm baths, exercise, and sun exposure. Your child may have no other symptoms or only a slight runny nose, sore throat, and very low fever. Complications are rare. This illness is quite

Infants start out with bowlegs because of their folded position while in their mother's womb. The legs begin to straighten once the child starts to walk when they about 12 to 18 months. By age 3, the child becomes knock-kneed. When the child stands, the knees touch but the ankles are apart. By puberty, the legs straighten out and most children can stand with the knees and ankles touching without forcing the position. Knock knees can also develop as a result of a medical problem or disease, for example: Injury of the shinbone which mean only one leg will be knock- kneed, Osteomyelitis which is a bone infection, Overweight, and Rickets is a disease caused by a lack of vitamin D.

79 % of people who use the smartphone daily is affected by new technology ailment : text neck.

There are three tests that are commonly used to diagnose Paget’s disease. These tests are blood test, bone test and x-ray “Sometimes the disease is found by accident when one of these tests is done for another reason”. NIH national resource center, 2015). The results from a blood test, is sometimes the first alert a doctor receives that a person may have Paget’s disease. The bone cell makes an enzyme known as serum alkaline phosphatase (SAP). Whenever there is a higher level of SAP than usual in the blood, it is evidence that Paget’s disease may be present. SAP in the blood that is more than two times the usual level,is a strong indication that the disease is present in the individual. (NIH national resource center, 2015)

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (n.d.). Retrieved April 18, 2016, from http://www.nature.com/eye/journal/v25/n11/full/eye2011201a.html

Hypophosphatasia is a metabolic disease characterized by a deficiency of tissue nonspecific alkaline phosphatase due to mutations in the genes encoding these enzymes. When tissue nonspecific alkaline phosphatases are low, inorganic pyrophosphate accumulates outside of cells and inhibits the formation of hydroxyapatite. This results bone abnormalities that resemble rickets.

About 1 in 30,000 people have Wilson disease. Wilson’s disease happens equally in men, women and children. Most people with Wilson’s disease are born with it. Wilson’s disease is more common in Eastern Europe. Wilson’s disease symptoms typically appears in people under 23 years old. In children, it is rarely diagnosed before the age of 4 years. Younger children rarely show any symptoms. The increased frequency in certain countries is due to higher rates of consanguinity.

At some point in their lifetime, more than twelve percent of the population will develop a thyroid condition. An estimated twenty million Americans have some form of thyroid disease, with women being five to eight times more likely than men to develop a thyroid problem.

Osteitis deformans or as we all know it as Paget’s disease, was first described in the year 1876 by an English surgeon named Sir James Paget. This disease results in enlarged or deformed bones due to excessive breakdown and formation of bone tissue (Reumatología Clínica). Since there is a disturbance in the bone remodeling stage, the bones may look enlarged but it is brittle, softer, and weaker which leads to fractures and deformities (MedicineNet). This disease is a chronic bone disorder, which means that it is long term and cannot be prevented or cured by medications. Also, this disease is mostly asymptomatic meaning it does not produce or show any symptoms, which is quite terrifying. It is mostly detected when patients get an x-ray for something else. This is most commonly located in the

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Children with Klinefelter syndrome may have learning disabilities and delayed speech and languaage development. They tend to be quiet sensitive and unassertive but personality characteristics vary among affected individuals. Klinefelter syndrome is found in about 1 out of every 500-1000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased

Happy Rare Disease Day!!! Personally battling rare diseases has been a long journey. I have met some amazing people, learned a lot, and have been given opportunities that would never have happened if it werent for my diseases. Being diagnosed after years of doctors saying it was all in my head, having the official diagnosis to explain everything was a game changer. Some days are hell, some days are okay, some days are even great but one thing is for certain….I will not stop raising awareness for my disease. Even though this day occurs once a year I am going to treat it like it’s everyday. We don’t only have to deal with our diseases once a year so why should we only shine the spotlight on these diseases once a yer. Treating everyday like today

Von Willebrand disease is a condition that can cause extended or excessive bleeding. This condition is the most common inherited coagulation disease in domestic animals but in rare cases may develop later in life. Von Willebrand factor is a large glycoprotein that circulates with factor VIII and is responsible for the combination of platelets at the beginning of the coagulation cascade. The cause of von Willebrand disease is a deficiency in or impairment of a protein called von Willebrand factor, an important component in your blood clotting process.

Paget’s disease, also known as Osteitis Deformans, this is a genetic disease that causes an abnormal processes of breakdown, reabsorption and rebuilding of osteocytes. This abnormal process effects focal bone remodeling and can lead to irregular structure and altered mechanical properties of the bones themselves. The bones become weak and results in pain, arthritis, bone deformities and fractures; however, it is still unclear of what the