have Marfan syndrome and about 3 out of 4 people with the syndrome will inherit it. Marfan syndrome is a genetic disorder that will affect the body’s connective tissue. The connective tissue in the body is what holds and supports organs and tissues together. The damages along with the disorder can be mild or severe. Marfan syndrome will affect everyone equally, men and women. No matter what the race, ethnicity or age. With age the disease will worsen. The greatest risk factor of getting Marfan syndrome
Juliette Mason is a High school student who has Marfans Syndrome. She plays basketball on her high school team and her parents were worried about her due to the fact that her brother had Marfans and died from an aortic aneurysm, he also played basketball. They came to me to find out how basketball will be impacted by the disorder and how she should go forward when she eventually has children. Marfans Syndrome is a genetic disorder that affects the bodies connective tissue in the body. Connective
Marfan syndrome is not the only genetic disorder that affects connective tissue and has conditions including Thoracic Aortic Aneurysm. Marfan syndrome is a genetic disorder that messes with the connective tissue throughout the body (Marfan Foundation) and was discovered by Antoine Marfan in France back in 1896 (KidsHealth). Features of this genetic disorder are mostly found in the heart, blood vessels, bones, joints, and eyes. (Marfan Foundation) But it affects each person differently. Marfan can
Marfan 's Syndrome is a heritable disorder of the connective tissue. It affects many body systems, like the lungs, skeleton, heart, eyes, and arteries. These parts affected may sound like they are unrelated but they are all affected by a mutation in a single gene on Chromosome 15. This gene is named FBN1 for the protein it encodes, fibrillin-1. What causes this mutation is the amino acids that builds proteins mix up a certain code on each protein and it makes the wrong amino acids that are put on
Marfan syndrome is a genetically inherited disorder that affects the human connective tissue. Connective tissue is the material present between the cells of the body, thus giving strength and flexibility to the body. Since connective tissue is found all over the body, multiple organ systems are affected. Marfan syndrome is an autosomal dominant genetic disorder, where abnormality in the gene causes a myriad of clinical features mainly affecting the skeletal system- bones and muscle, cardiovascular
Abraham Lincoln was shown to have a tall/thin build, a long face, and enormous hands and feet. He shares the same symptoms of an individual suffering from Marfan syndrome. Marfan syndrome is a genetic disease that affects the connective-tissue of an individual. The connective tissues help the human body grow and develop by holding cells, organs, and tissues together. This disease is caused by mutations in a gene called “FBN1”. This gene holds the information to make a protein known as “fibrillin-1”
that was destined to be drafted as a top five pick in the 2014 NBA draft. However, on June 1ST 2014, 5 days before the draft, NBA officials were saddened to announce to Isaiah and his family that he (Isaiah) had a serious heart condition called Marfan syndrome and would not be allowed to be part of the NBA. In the following days, Isaiah took time to recuperate and understand what had taken place. During that time period the story of this young man spread throughout North America, and thus the NBA commissioner
Taking care of patients with critical illness is surely demanding since it requires a close medical supervision care by a multi-disciplinary team. Being a nurse in an intensive care unit is stressful and challenging since it requires the nurse to demonstrate special characteristics and skills in order to be able to adjust to the critical sittings, accommodate to the patients’ needs, provide the patients with the best medical treatment and evaluate their conditions as well as to help their families
much sense to me until later on. The whole appointment lasted almost two hours, but it was a very educational two hours, because in the end I found out that I not only had Scoliosis, but that I also had Ehlers Danlos Syndrome (EDS). There are three main types of Ehlers Danlos Syndrome, and I have the hypermobility type. It’s essentially a problem in your body that doesn’t allow you to produce collagen correctly. Unfortunately that affects the way my
Case Study of Ehlers–Danlos Syndrome Introduction This case study is about Ehlers – Danlos Syndrome. [1]Ehlers – Danlos Syndrome is a condition that cause connective tissue that cannot support the skin and it also affect the sign and symptoms of ehlers - Danlos syndrome. The person who has this type of condition (Ehlers - Danlos syndrome) there is a chance that the person can have flexible joints, stretchy, fragile skin which can lead an issue of a wound because the skin cannot heal a wound.
Patient’s safety is essential during hospitalisation and it is everyone concern. It is because, hospital is a place where patients’ injuries are treated, not generated. However, unintentionally injuries may be happen while in the care in the ward. The challenge for nurses are to ensure safety while giving nursing care to them. Falls are the common accidents occurred in ward. This lead harm to patient and emotional stress to the family as well. Throughout my clinical posting, there was an incident
Angel is an 18yo, primigravida, who is currently 29 weeks 4 days as dated by LMP consistent with a 17 week ultrasound performed in an emergency room in North Carolina. She did not have any PNC until 28 weeks due to her move from North Carolina to Tennessee and difficulty with insurance. She has a history of drug use involving benzodiazepines and THC. Once she found out that she was pregnant, which was early on, she stopped using anything. She has had no drug use, per her report, since early first
Introduction The term kyphosis describes the spinal curve that results in an abnormally rounded back. Kyphosis can happen at any age. 7459 papers were found when the word ‘kyphosis’ was searched on ‘PubMed’ search engine. The majority of these papers studied kyphosis were related with scoliosis. It was understood that kyphosis was studied in addition to the other deformities in the papers related to the etiology of kyphosis with some exceptional cases. Definition Kyphosis is a forward rounding
to as hunchback, dowager’s hump, and humpback. Kyphosis can affect anyone, regardless of their age, gender, or ethnicity. There are several factors that may cause kyphosis, such as osteoporosis, disk degeneration, Scheuermann’s disease, certain syndromes, and birth defects. Based on those factors, there are three types of kyphosis: congenital kyphosis, Scheuermann’s kyphosis, and postural kyphosis. Young
Brad Cohen has Tourette syndrome since he was six. Tourette syndrome is known as neurological disorder where people made strange noise, twitches and uncontrollable movements ("Tourette Syndrome Association of Australia is a registered charity to support families and individuals understand and manage Tourette Syndrome.", 2016). Since he was young, his father constantly felt annoyed by this tics and his involuntary movements. He did not really acknowledge Brad for who he was. His mother, on the other
A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder. While reading this paper, you will become aware of the causes, characteristics, diagnoses, assessments and academics of Angelman Syndrome. By the end of the paper you will be able to understand how this disorder affects children and educators
The rare condition Prader Willi Syndrome affects 1 in 10,000 to 30,000 people worldwide. Although this is considered a rare condition it 's actually one of the main reasons there are so many obese people today. “PWS affects males and females in equal numbers and occurs in all ethnic groups and geographic regions in the world. Most estimates place the incidence between 1 in 10,000-30,000 individuals in the general population” (Butler n.p.). Prader Willi Syndrome was discovered in 1956 after Andrea
Jonathan, a seven and a half year old boy is a social second grader who has normal intelligence. However, Jonathan was diagnosed with spastic cerebral palsy and has dysarthric speech patterns. With spastic cerebral palsy, Jonathan has difficulty regarding his motor control and movement. Confined to his wheelchair, Jonathan works independently, separate from his classmates. Jonathan cannot produce clear speech, his dysarthric speech pattern prevents him from speaking freely in the classroom and
It not so much only the fact that within the story people cannot communicate with each other because of the different language they speak, but it becomes clear how much effect prejudices have on people. Juan Pellicer calls this “a Babelian syndrome: broken communication, misunderstandings, isolation both on the global level as well as in the intimate realm of relations between children and parents, particularly with the consequences of separation and deafness” (Pellicer 240). People are so used to
The expression "pervasive formative issue," likewise called Pdds, alludes to a gathering of conditions that include postpones in the advancement of numerous fundamental abilities. PDD incorporate a few that are described via impeded equal social communication, unusual dialect advancement and limited behavioral collection. There are five sorts of pervasive improvement issue: • autistic issue • asperger's confusion • rett's confusion • childhood disintegrative issue (additionally called disintegrative