Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could
Osteogenesis Imperfecta- Pathology Paper Osteogenesis Imperfecta is a disease that beginning when one is in the womb. It is a defect in collagen deposition that reduces bones. This disease makes bones very brittle and weak. These weak bones are often developed during pregnancy and will continue to occur throughout childhood. As stated in Access Medicine, Osteogenesis Imperfecta causes “fragility of bones may be severe enough to limit physical activity or be so mild that individuals are unaware of
Osteogenesis Imperfecta Jayson Garcia Eng 102 April 29th 2016 APA Medical Paper Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities
There are many well-known disabilities and osteogenesis imperfecta is not one of them. Thus, this disability will be the topic of my investigation. Although osteogenesis imperfecta, also known as brittle bone disease, is not a widely-known condition, having knowledge on this rare condition will be helpful in case I encounter a child or adult with this condition. By having knowledge on rare conditions like osteogenesis imperfecta, better care and understanding can be provided to someone who is encountering
Osteogenisis Imperfecta DEFINITION Osteogenisis imperfecta (OI) is "a rare genetic disorder of collagen synthesis associated with broad spectrum of musculoskeletal problems, most notably bowing and fractures of the extremities, muscle weakness, ligamentous laxity, and spinal deformities." (Binder, 386). Other collagen-containing extraskeletal tissues, such as the sclerae, the teeth, and the heart valves are also affected to a variable degree. OI has a "common feature of bony fragility associated
“We regard all life as being a 'gift' from God. The practice of PGD would seem to imply that the lives of some may be regarded as 'gift' while the lives of others are to be regarded as 'burden'. Given the Catholic position on IVF, discriminatory selection and the destruction of embryos, we do not support PGD being used for the sake of selecting some embryos and discarding others.” The Catholic Church believes that every type of life is important and should be respected. Being able to choose what
them again after their treatments. Unfortunately, some diseases can not be treated. The bone disease, osteogenesis imperfecta, is one of those rare, genetic disease that scientists had not found an absolute treatment that can eradicate it and ease the patient’s difficulties. Osteogenesis imperfecta (OI) is commonly known as the brittle bone disease. Unlike most ailment, osteogenesis imperfecta is a rare disease that caused by genetic mutation. This certain disease cause the bones to be extremely
called osteogenesis imperfecta affects about 50 000 people in the United States alone Ref. The body of a person with osteogenesis imperfecta (OI), or ‘brittle bone disease’ cannot properly form bones due to a mutation preventing them from producing a healthy amount of collagen, causing bones to fracture easily. This paper provides an overview of osteogenesis imperfecta’s symptoms, genetic causes, diagnosis, and its development. treatment and effect on a patient’s life. Osteogenesis imperfecta is organized
her latest reads, Sing You Home, is a sort of “coming out” story and the contemporary struggle of sexual orientation is close to her heart with her son’s coming out. Having no personal connection to the extremely brittle bone disease, osteogensis imperfecta, Picoult gave a clear account of it’s affect on family relationships as if it was a piece of her everyday life. Despite all the factual information and legalistics, Picoult always accomplishes an easy read wh... ... middle of paper ... ...do
As a middle school student, specifically an eighth grader in the Bronx I was going through a lot of changes. This was also the first year that I completed without taking a leave to attend medical matters. Considering my many absences due to my mother having me attend with her to her appointments to interpret and fill out paperwork, I was a good student. I was a bit older than most students. At this point in time, I was realizing that I did not have many friends and that was ok. I was not liked by
Osteogenesis Imperfecta (OI) is a disease that is commonly referred to as brittle bone disease. Children with OI tend to have more fragile bones than children who are not affected and are very susceptible to bone fractures. With the correct support and proper management, the patient and their family can live relatively normal and happy lives. Nutrition, exercise, and maintaining a healthy weight are extremely important factors in controlling the factors and symptoms related to OI. Bone health is
Limb lengthening surgery has come a long way since the days of the first procedures that took place in the early 1950's. What a ground-breaking idea it was to lengthen limbs. This surgery meant freedom for people who were afflicted with crippling disabilities. For those who had suffered the debilitating disease of polio - to congenital limb defects or dwarfism, the hope of having straight, longer limbs was a God-send. With the invention of the external fixator by an orthopedic surgeon from Russia
Introduction Osteogenesis imperfecta, also known as “brittle bones disease,” is a rare genetic disorder that affects the body’s production of type I collagen, which is the major protein of the body’s connective tissue. Generally, people affected with OI either have too little of type I collagen, or the quality of it is poor. Collagen defects account for about 85%.1 However, proteins in the bones may be affected in some of the more uncommon forms of OI. Because of this defect, people with OI have
43-49. Ontario Human Rights Commission. What is disability? The definition in the Human Rights Code. Retrieved from: http://www.ohrc.on.ca/en/policy-and-guidelines-disability-and-duty-accommodate/2-what-disability Osteogenesis Imperfecta Foundation. (2012). About Osteogenesis Imperfecta. Retreived from: http://www.oif.org/site/PageServer?pagename=AOI_AboutOI Weijer, C., Skelton, A., & Brennan, S. (2013). Bioethics in Canada. Don Mills, Ontario: Oxford University Press.
From the Seeds of Sadness shares the story of one boy with Osteogenesis Imperfecta and his journey through life as he deals with the overwhelming uncertainty of this disease. His mother shares with the us the rollercoaster of emotions that she and her family face as they slowly unfold the details of OI. Gemma Geisman, the author and mother of Mike, exemplifies the need for education as she and her family were left in the dark in the early days of Mike’s life. Immediately after Mike’s birth, Gemma
Theoretical Basis “Rafi did very well for his ‘A’ Levels and, although he did not gain admission into the teacher training programme due to health and mobility concerns, he is pursuing his dream of teaching by giving home tuition.” (Lim, 2004) Rafi, a student with Duchenne muscular dystrophy (DMD), a degenerative physical disability is most likely difficult to treat by teacher with anxiety. However, his teachers play a really big role in guiding Rafi to his general outlook on life and success. This
nonfiction book, The Hot Zone, written by Richard Preston, the science fiction book World War Z, written by Max Brooks, and the scientific movie, Unbreakable, directed by Marc Forster. In the movie Unbreakable, a man named Elijah has the disease osteogenesis imperfecta that makes his bones weak. David, another character, is unbreakable meaning he never gets hurt. Through the movie, both David and Elijah meet up and more is revealed about themselves. Through Unbreakable, I learned that the writer uses plot
“Science Fiction will never run out of things to wonder about until the human race ceases to use its brain,” -Julian May. You can imagine the impossible with science fiction, you can go anywhere. Science fiction allows you to do anything or create something that seems impossible, but when you stop thinking about what could be you stop science fiction. Science fiction is fiction based on anything that is pretty much out of this world or seems to be. For example, it could be about time travel, life
Abstract Certain reasons and factors should allow women carrying children with physical and mental disabilities the choice of abortion with them knowing that they cannot fully provide for their children emotionally, financially and even physically. This report discusses these reasons and their implications; justifies the need for the action that is considered “murder” in most societies and sheds light on the hard truth for those few who have been dealt with the unfortunate situation of having children
in a criminally insane institution. On the other hand, Elijah is immensely determined to find his opposite that not only he killed people; he also endangered his own life trying to do so. In the film, Elijah chases the gunman despite his osteogenesis imperfecta and tumbles down the subway stairs, fracturing several bones. This was foreshadowed by his glass cane that represents Elijah since he was called Mr. Glass in his childhood. In the subway scene, the blue glass cane shatters and moments later