Informative Speech On Klippel-Fel Syndrome

A young man, by the name of Tom Robinson pleads guilty for rape, in the case of Ewell vs. Robinson. He was shot and killed a day after his hearing. This case has brought attention to the small town of Maycomb.

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Celiac disease is an autoimmune disorder in which the ingestion of gluten damages the lining of the small intestine and thus leads to a wide range of symptoms and health issues. However, it is often confused with gluten intolerance or misrepresented as a dietary restriction. Consequently, most people assume cutting off pasta and baked goods from one’s diet for a limited period of time is enough to cure it. Therefore, it is necessary to raise awareness of the true definition of celiac disease and to familiarize people with the seriousness of this illness. This blog is my platform to share my story with this medical condition. My aim is to highlight the fact that having celiac is a lifelong journey that goes far beyond bread and cookies. My ultimate goal is to reveal the impact of the disease on one’s lifestyle and to uncover the concealed and invisible aspects of being celiac.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Hello, today I will be explaining a brief description of my I.S.P topic on Cystic Fibrosis also known (CF). What I will be talking about is what Cystic Fibrosis is, the causes of Cystic Fibrosis, the Symptoms of CF, Diagnosing CF, when to see a doctor, The Cystic Fibrosis Foundation, where does Cystic Fibrosis affect, risk factors, respiratory signs and symptoms, digestive signs and symptoms, respiratory system complications, digestive system complications, reproductive system complications, and lastly prevention as how to prevent. So first I will talk about what Cystic Fibrosis is. {Click}

We can diagnose through therapy showing evidence of limitation or with lab tests that use direct sequencing on the CHN1 gene to look for mutations. The syndrome can be aided with therapy and surgery although no surgery has been proven to completely eliminate the symptoms of the syndrome but they do help. Boston’s Children Hospital is researching to more understand the genetics behind Duane’s Syndrome that includes radial ray anomalies. They have traced it back to Chromosome 20 and even identified it, they identified it as SALL4(Duane Syndrome Pediatric Research and Clinical Trials). This can help the way we diagnose, treat and maybe even prevent it in the

Spina bifida, a type of birth defect meaning, “cleft spine” affects many babies around the globe in that their neural tube incorrectly closes and affects their spinal cord and brain. The three most common types of spina bifida are spina bifida occulta, meningocele, and myelomeningocele—in the order of least to the most debilitating. The birth defect is most commonly diagnosed with the Maternal Serum Alpha-Fetoprotein blood test, as well as other tests. The complications occurring with the most severe case of spina bifida include meningitis and the Chiari II malformation. Spina bifida can be treated with a wide variety and number of surgeries such as prenatal surgery, as well as prevented by intake of folic acid. The birth defect, spina

INTRODUCTION: Stickler syndrome was first reported in the medical genetics in 1965 by Gumnar Stickler et.Al who called the disease

After several years as an Intel’s follower, AMD had finally achieved the market recognition of a superior product for the Server and Workstation Segment and, as a consequence, is gaining market share at Intel’s expenses. Faced with the need of increasing volume, AMD considers essential to leverage the success obtained with Opteron to increase market share in other segments. The analysis of the data presented in the case indicates that there is still volume to make in the Server Segment and important issues to address in this same segment. We can also conclude that there is a high probability of failure in

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

There is an evident issue with the public schooling system in America today. Throughout the entire country, kids are the victims of schools that fail to gift them with the knowledge that they need to excel past high school. In lower-class areas of the country, students are destined to become dropouts because their education simply does not provide them a way out. In the film, Waiting for Superman, director Davis Guggenheim claims that schools are failing to meet beneficial education standards for all students. Due to their demographic, children in lower-class areas of the country do not have access to the same educational opportunities that wealthier families receive. Throughout the film, Guggenheim’s use of music and pacing creates a powerful feeling of sympathy in the audience towards the children that are not privileged to a better education because of their economic status. By utilizing these devices, the film ultimately hopes to build on the audience’s sympathy in order to possibly ignite a change for the public education system in the United States.

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Due to the wide variability of the many symptoms and effects, affected males with KS may have all of the symptoms and some may only have a few of the effects. Common symptoms are sparse body hair, tallness, infertility, small testes, and gynecomastia. As said before, many males with Klinefelter syndrome do not show many of these effects on the body but that does not mean that

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