Klinefelter Syndrome Research Paper

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating

Purpose – The purpose of this paper is to discuss Ekbom Syndrome, also known as primary delusional parasitosis.

The show got multiple aspects of Korsakoff syndrome correctly. The woman confessed to the murder of her husband in spite of her inability to remember the act or why she did it. When confronted with questions about her murder by investigators she quickly confessed to the murder and signed confession papers. The doctor came in asked if she had picked up a cat on the side of the road named Millie. She agreed that the event happened and asked how he knew about it. The doctor says she has symptoms of Korsakoff syndrome and that she is extremely suggestible to altered memories and has anterograde amnesia. Anterograde amnesia is the inability to form new memories which seems to be the symptoms she is experiencing. The investigator that works with

Zollinger-Ellison syndrome, is known as the gastrinoma syndrome caused by gastrin-secreting tumors of the pancreas, which stimulate maximum acid secretions and lead to ulcerations. ZES is connected with diarrhea, malabsorption, gastric reflux, severe ulcerations and ulcerations in the duodenum and the proximal jejunum. There are a few types of ZES that exist in different forms, including benign, sporadic, metastatic, and part of multiple endocrine neoplasia type 1 (MEN 1). Most gastrinomas are sporadic and sporadic tumors are a cancer that occurs in people who do not have a family history of that cancer. Sporadic gastrinomas are located at the gastrinoma triangle, which is located in the junction between the cystic and bile duct, portions of the duodenum, and the pancreas. While solitary tumors can

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

Krabbe disease is a disorder in the nervous system in which the patient becomes unable to function correctly. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. A large cell of a primary germ is found clustered together in the space between the skull and the brain causing it to destroy the cells. Although, this disease generally directed at infants it may also develop in an older child or adult.

The number of seniors in the United States is growing rapidly. The costs to cover medical expenses is increasing as well, causing many family members to become caregivers. Unfortunately, without receiving specialized training, some seniors may be at a disadvantage when they receive care from their family members. Caregivers must recognize the signs many seniors exhibit when it is time for a community that focuses on senior living in Virginia Beach.

1. While many seniors with dementia or Alzheimer's disease do experience Sundowner's Syndrome, not all do. Approximately one in five seniors with Alzheimer's experience the condition and it may get better as the disease further progresses. The confusion that sets in after sundown can begin for some as the sun begins to set while others don't experience symptoms until it is completely dark outside.

Stevens-Johnson syndrome (erythema multiforme) is an acute inflammatory polymorphic disease affecting skin and mucous membranes. All ages may be affected, and the incidence is equal in both sexes. This is a severe disease with a 5%–15% mortality rate. Ocular involvement, which occurs in as many as half of patients, varies from a mild mucopurulent conjunctivitis to severe perforating corneal ulcers. Blindness occasionally occurs in patients with severe late-phase corneal complications, such as ulceration, vascularization, and perforation.

The root causes of Krebs’ alienation is present in the story when he returns home with no excitement, no parties, no talks of war or even a warm welcome. The lack of attention for his sacrifice creates a liar out of Krebs, and even though he hates it, he cannot prevent himself from lying due to the positive reinforcement he received amongst his peers from his lies. Why should he tell the truth? No one he closely associated with was there with him in Germany. He simply could not come home with a boring story for his family.

It was originally hypothesized that these conditions were the result of the aging process, but these clinical studies have proven this to be incorrect. It is unfortunate, however, that there is currently no test that is conclusive enough to prove the conditions are truly correlated with insufficient potassium levels since the blood potassium screenings are not a true reflection of the entire body's potassium levels. What is certain is that the reversal of the process is effected with dietary potassium

Loeys-Dietz Syndrome (LDS) is a genetic disorder that affects connective tissue in the body. To tell if someone has Loeys-Dietz syndrome, you can most likely see; widening or dilation of arteries, twisting or spiraled arties, widely spaced eyes, and spilt or broad uvula. Although, these are the main characteristics of Loeys-Dietz, not all patients suffer from all of these syndromes. LSD can also affect the bones, blood vessels, skin, and/ or organs. Other characteristics include: aortic aneurysm which is when the main blood vein has abnormal swelling, joints are flexible, possible scoliosis, etc. LSD affects each person differently and can only be passed down from a family member. Sadly, people who suffer from

Reye’s syndrome is an acute condition of the brain and liver that’s exact cause is unknown. It has been strongly implicated with the use of aspirin and other salicylate containing products for the treatment of viral infection in children.1 Children under the age of 12 are at higher risk for developing Reye’s syndrome. Our patient Nick, was a 16 year old boy recovering from the flu he had last week; he was given chicken soup, hot tea with lemon, and aspirin. His age, aspirin use, and medical history put him at a higher risk for the development of Reye’s. Because Reye’s syndrome is associated with viral infections (mainly flu and chickenpox), highest rates of development occur during the winter months (flu season).1 Although Reye’s syndrome is

As an early childhood educator young children learn with all their senses.However, the implication for children with Lowe syndrome or visual impairment learn from all their other senses. In our classroom we would prepare sensory activities such as the sticky fall tree where the children place fabric leaves on contact paper. This activity provides independent and it allows the outdoors to come to them in a controlled environment. In addition, it provides the child cognitive and fine motor skills. Parents can make feel box which is made from old kleenex boxes filled with all kinds or textures. In our classroom we have sensory tables with sand and water.