is like that. Have you ever heard of something called Marfan syndrome or MFS? It is a genetic disorder that about one in every five thousand people have and there is a fifty percent chance that it can be passed on to the next generation ("What Is Marfan Syndrome?"). Marfan syndrome is an abnormal condition characterized by elongation of the bones‚ and abnormalities in the cardiovascular system and the eyes (Hamilton). Marfan syndrome is a genetic disorder that can be inherited from ancestors and
Premium DNA Gene Genetics
METABOLIC SYNDROME LEARNING OBJECTIVES At the end of lecture students should know – Definition of Metabolic Syndrome – Visceral obesity is an indicator of the syndrome and an independent marker for CVD – Current and some potential future treatment options. METABOLIC SYNDROME CONCEPT (Not New) • 1923 - Kylin first to describe the clustering of hypertension‚ hyperglycemia‚ hyperuricemia • 1936 - Himsworth first reported Insulin insensitivity in diabetics • 1965 - Yalow and Berson
Premium Obesity Insulin Diabetes mellitus
Case Discussion Beal’s syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures‚ arachnodactyly‚ severe kyphoscoliosis‚ abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for
Premium Genetics DNA Gene
Inside Rett Syndrome Christina Wenn April 10‚ 2013 Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood‚ and one of the twins‚ Morgan‚ was diagnosed with Rett syndrome as an infant. I started babysitting the twins‚ Morgan and Ryan‚ when I was a freshman in high school‚ but I mainly took care of Morgan. She would giggle and smile‚ but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper
Premium Mutation DNA
22q11.2 deletion syndrome‚ several tests have to be conducted in order to determine if this is in fact the cause. With our proband‚ it is clear that this is a case of familiar inheritance. As a clinician‚ is it important to start by asking about the patient’s current and past medical history‚ history of present illness‚ developmental and social functioning and obstetric history so we can get a more in depth understanding of the patient’s presentation (“22q11.2 Deletion Syndrome”‚ 2016). A physical
Premium Medicine Patient Health care
| Stockholm Syndrome Brian Perry – G00059466 CJ416 Victimology 25 OCT 2010 Abstract Why is Stockholm Syndrome so prevalent in child abduction cases? What happens to the victim psychologically‚ emotionally
Premium Child abuse Abuse Kidnapping of Jaycee Lee Dugard
Angelman Syndrome By Ciera Carr Dr. Glimps 2006 Carr 1 Ciera Carr Dr. Glimps Research Paper Angelman Syndrome Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs‚ 2004‚ p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor
Premium Communication Mental retardation
Cotard syndrome was named after Jules Cotard. A French neurologist he called the condition le délire de négation (“negation delirium”). There are multiple levels from mild to severe. Cotard had formed a new type of depression‚ where one denies their own existence. When the area of the brain that recognizes faces is disconnected‚ with the area that associates emotions with those faces. This can also be caused from major depression with psychotic features‚ schizophrenia‚ or organic
Premium Psychosis Bipolar disorder Schizophrenia
Myelodysplastic syndromes have historically been subjected to incomplete definitions and biologic understanding of disease.1‚2 With the better understanding of this disease by morphology‚ cytogenetic evaluation and molecular testing it is now easier to categorize this disease. Myelodysplastic syndrome could not be described as a distinct syndrome until the first half of the 20th century when bone marrow biopsies were started in routine. Still‚ early suggestive reports can be found in the medical
Premium Hematology Bone marrow Red blood cell
conducted around the topics of crush syndrome and amputation‚ which depending on the severity of the crush can coincide with one another. This paper will discuss various medical aspects‚ treatment‚ assessment‚ psychosocial/psychological issues and some research data pertaining earthquakes related to amputation and crush syndrome. Crush injuries can occur through the means of a natural disaster‚ acts of war‚ traffic collisions‚ as well as industrial accidents. Crush syndrome differs from a crush injury depending
Premium Amputation Blood Prosthesis