Turner Syndrome Research Paper

Muscular dystrophy is a genetic disease or genetic disorder. Muscular dystrophy is when someone doesn’t have any muscle mass. In the article “Muscular Dystrophy: Causes, Symptoms and Treatments” it says that “The most common form of muscular dystrophy – Duchenne muscular dystrophy – typically affects young boys, but other variations can strike in adulthood.”(Tim Newman) Muscular dystrophy is when your muscles wear away and don’t really ever come back. In the same article it says that “Muscular dystrophy occurs in both genders and can strike at any age. However, Duchenne muscular dystrophy in the most common form and is most likely to occur in young boys.”(Tim Newman) Many people who have this genetic disorder usually walk on their toes and have trouble walking in general. Most people who have this genetic problem will eventually be in a wheelchair bound the rest of their life.

As an NP, we spend the majority of our time with the patients, which give us the advantage of being connected to the patient more than other health care providers. Also, we gain their trust, bond with them and develop a strong relationship with them. Conveying bad news should be taught throughout the continuum of nursing education, with basic skills being introduced early in the curriculum and graduated learning and skill-building opportunities provided appropriate to the developing health care providers e.g. permitting students to be present during the provision of bad news to patients and/or family members. Bringing the learner into such difficult and emotionally charged situations requires that faculty can both role-model appropriate skills and commit to prepare and debrief the learner for effective learning to occur.

Topic: They say that being a middle child is unfortunate, but in my experience being one is the biggest blessing in disguise.

Throughout the semester, I have gained a better understanding of adapted physical education and sport programs. These programs provide children and adults with an opportunity to participate in sports they may not have thought were possible. The modifications to sport and exercise allows individuals with a range of disabilities to engage in activity. The disabilities can range from a mild learning disability to a permanent condition caused from a serious accident. While observing numerous individuals with disabilities, I was able to obtain a better understanding of the challenges that came with physical activity.

•Many women first become aware of incompetent cervix after losing their first pregnancy. Most often, the woman has a birth defect that affects the normal shape of the uterus or cervix, but they have no history to indicate the condition. Women who may be at risk for incompetent cervix include those who: had a previous D&C or those who had a previous surgery for an abnormal pap smear or those who had a damaged cervix.

Duchenne Muscular Dystrophy affects the DMD gene. This gene creates the protein dystrophin which helps strengthen muscles in the diagnosed patient’s skeletal and cardiac muscles, and also strengthens some small nerve endings near the brain. Dystrophin is what holds the muscle cell’s framework together, and works with other genes to protect the muscles from injuries when they contract and relax. It also plays a part in cell signaling by interacting with proteins that correspond with the brain. Doctors and scientists say that the DMD gene is especially imperative for normal muscle structure and connections using cell-to-cell communication.

Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder. The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is. Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event. GENETICS OF THE DISEASE The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen

In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46. Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

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 can assist a child with AS.

Duchenne Muscular Dystrophy is a dangerous and rare disorder. It is transferred through family generations because it is a genetic disease. Duchenne Muscular Dystrophy is referred to by many names including DMD, Duchenne Syndrome, and Pseudohypertrophy. DMD is when the body cannot make dystrophin so it results in muscle weakness.

Henoch-Schonlein purpura is inflammation of the blood vessels. This causes a rash of red or purple spots on the skin.

In keeping the insanity defense as it stands the benefits outweigh the problems. This defense fixes problems with the mentally insane and leads to curing more of the mentally ill. Viewing the defense as a benefit seems to fit if it helps more people than it harms, although other views have been brought against it opposing the defense. The jurisdictions that have kept the defense see it rarely and take it as a claim of innocence.

Growth slows down to normal by the time a child with Sotos syndrome reaches puberty. Most children with Sotos syndrome are similar in size to other children their age by this time. Many children with the condition also eventually catch up in mental development.

1. Discuss the age specific physical assessment/s properly completed this week. State techniques you used in completing the physical assessment of your patient. Often these techniques will differ from an examination of an adult.

There are multiple facial features that will occur when a child has FAS, however these symptoms will vary from child to child and depend on the severity of the condition. Children who suffer from FAS may have an extremely thin upper lip, smooth skin between the upper lip and the nose, a small, upturned nose, and small eyes. Other deformities can include slow physical growth after birth, vision and hearing struggles, deformities of the joints, limbs and fingers, have a small head and small brain size, heart defects, skeletal issues, and digestive