Abstract Li-Fraumeni syndrome is an inherited disorder and leads to the presentation of various types of cancer in a family. This experiment was conducted to determine first, based on Valerie’s family pedigree, if Li-Fraumeni syndrome is present in her family and who has been affected by it. Once this was established, gel electrophoresis was used to compare samples of Valerie’s blood and normal breast tissue to her tumor tissue and to a wild type DNA fragment to see whether or not her cancer has metastasized; it did not appear that this was the case. Lastly, her children’s p53 gene was sequenced and compared to the wild type p53 sequence to determine whether any of them carried the mutation. Two of her children do have the mutation at two points…
Abstract Lupus is a chronic autoimmune disease in which the human immune system is overactive. Chronic means that the signs and symptoms tend to last longer than six weeks and can last up to several years (Lupus Foundation of America, 2014). Autoimmune means the immune system cannot tell the difference between foreign invaders and healthy tissues within the body. Therefore, the body attacks itself by creating auto-antibodies that destroy the remaining healthy tissue (Lupus Foundation of America, 2014).…
Lupus is short for a known condition called Systemic Lupus Erythematosus (SLE). Lupus is an autoimmune disease, which means the body, attacks its own cells. It affects different organs including the skin, joints, heart, lungs, blood, kidneys, and the brain. At least 5 million people worldwide have a form of lupus but more than 90% of the patients diagnosed with this particular deadly disease are women. People that usually develop this disease are young teens and middle-aged adults.…
A genetic mutation on chromosome seventeen causes a shortage of an enzyme aspartoacylase (ASPA) gene; this is an inherited autosomal recessive trait. That is, a child must inherit one copy of the mutated gene from each parent to develop the disease. Aspartoacylase serves as a metabolic component that breakdowns the brain element known as N-acetyl-aspartate (NAA). When NAA is not broken down properly, it causes a decline of the white substance (myelin) in the brain.…
Krabbe disease Brief description of the disorder: Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old.…
Running Head: FROM THE OUTSIDE IN 2 ABSTRACT ALS also known as Lou Gehrig's, is a disease where your body attacks its own muscles. This research project will explain a lot of information on the terrifying disease of ALS. It will include the signs and symptoms of the disease, and the risk factors it takes to get ALS. It will also explain how and if the disease can be diagnosed by different test and when these test occur.…
Wilson disease is a recessive inherited disorder. It occurs at birth, but symptoms of the disease do not appear till the ages of 6 through 40 and is caused by a large accumulation of copper in the body. An indication of the disease is a deep copper colored ring around the edge of cornea and the most common medical consequences of Wilson disease is liver disease because the liver is what eliminates the absorbed copper when we consume food and turns it into bile so the copper levels in our body remain leveled. When the copper is not eliminated by the liver and is accumulated in our bodies instead, it becomes life threatening to our body and begins to affect our entire system. Wilson Disease is a treatable disease, but has to be done at an early…
Castleman’s disease is a rare disorder that involves an overgrowth of cells in the body. Castleman’s disease can occur in a two types of forms which are (unicentric) or widespread (multicentric) form. This disease can affect anyone on the average age of people diagnosed with unicentric in their 30s. However most people with the multicentric are in their 50s and 60s. The multicentric form is also slightly more common in men than in women.…
I chose lupus for my autoimmune disease. “Lupus is a chronic inflammatory disease that occurs when your body’s immune system attacks your own tissues and organs.” (Mayo Clinic, 2015). Lupus can cause inflammation that can affect the joints, skin, kidneys, blood calls, brain heart and lungs. Symptoms for lupus are fatigue, fever, joint pain, butterfly-shaped rash on face, and shortness of breath and chest pain.…
The patient chosen for this paper is K.B., a five-year and eight month old female who was diagnosed with epilepsy at age four. History…
Even though utilizing personal protective equipment can keep myself and other's safe, viruses need to be a constant concern because of their unknown routes of infection, abilities to mutate and Secondhand contact with patient's substances doesn't change the severity of the possibly infection. Richard Preston really wrote this book to keep the reader anxious the entire time. Each individual that he interviewed was well aware of how severe of constant concern of transmission from the virus. I found myself shuttering with chills when people would recollect their experiences with possibly contracting the virus by an accident exposure. When Preston wrote about Nancy Jaxx’s thoughts before entering the level four hot zone, they really resonated with…
The correct answer is C Osteitis Deformans (also known as Paget’s disease). Paget's is caused by the excessive breakdown and formation of bone, followed by disorganized bone remodeling. This causes affected bone to weaken, resulting in pain, misshapen bones, fractures and arthritis in the joints near the affected bones. An elevated level of alkaline phosphatase in the blood in combination with normal calcium, phosphate, and aminotransferase levels in an elderly patient are suggestive of Paget's disease. Here calcium level is within normal range which is 2 - 2.6mmol/l. Adult rickets(C) also known as Osteomalacia.…
Marchiafava- Bignami disease is an illness typified by extreme demyelination of the corpus callosum, and is most often seen in patients exhibiting extreme alcoholism or nutritional insufficiency, although it has been seen in patients who do not consume alcohol[1]. Some clinical hallmarks of MBD are tetraparesis, astastia –absasia, impaired consciousness and neuropsychiatric disorders [2]. In previous eras, MBD was diagnosed post-mortem during autopsy, however with the dawn of computed tomography (CT) and magnetic resonance imaging (MRI) early diagnosis is now possible [2] . Some early symptoms of MBD include dementia, paranoia, lethargy, tremors, abnormalities in gait, ataxia and seizures.…
In 1523 Giovanni da Verrazzano set sail on a quest to explore the West on behalf of France. The voyage was plagued with various issues as he searched for a passage to the Pacific Ocean and Asia. As Verrazzano sailed up the East coast of the Americas to finally rest at what today is known as Newport, Rhode Island he observed many signs of Native American’s inhabiting the coastline (Staff, 2012). Around the time Verrazzano was traveling up the East coast Native American populations were estimated to be between 2 million and 18 million strong. While there is a huge variance in this estimation, there is little doubt that the Americas were well populated by then (Calloway, 2012).…
I was keenly aware of the importance of Genetics in health care early in my time studying Medicine and later have gained profound knowledge of it as well as Cell Biology and Molecular Biology through in-depth Biomedical studies. However, it is during my current study on the genetic disorder Neurofibromatosis type 1 (NF1) when my passion for the Laboratory Genetics and Genomics was lighted. My passion for the Laboratory Genetics and Genomics was lighted while I am conducting current studies on the genetic disorder Neurofibromatosis type 1 (NF1). However, it has long been deeply rooted since I was keenly aware of the importance of Genetics in health care early in my time studying Medicine and have gained profound knowledge of it as well as Cell…