Why is Sharon is experiencing the following signs/symptoms? Please provide the specific pathophysiology. (4 points) •Jaundice: Jaundice occurs when your liver doesn’t metabolize bilirubin the way it’s supposed to. Accumulation of bilirubin or its conjugates in body tissues produces jaundice, which is characterized by high plasma bilirubin levels and deposition of yellow bilirubin pigments in the skin and other tissues.…
Review Questions # 5 2. Distinguish between autosomal dominant and autosomal recessive disorders and provide a couple examples of each. When dealing with genetic disorders its important to understand how they are inherited. There are two ways a child can inherited a genetic disorder from their parents. Autosomal dominant disorder is where one parent has a genetic disorder in which it has already manifested such as familial hypercholesterolaemia, marfan’s syndrome, and achondroplasia(dwarfism) and this dominant gene is inherited by their child who will also develop the disorder.…
Blue People: Family of Troublesome Creek Martin Fugate and his wife Elizabeth Smith moved onto the bunks of Troublesome Creek, an area in Appalachian Kentucky. Martin and Elizabeth together had seven children. The family tried to hide out in the mountains because of the blood disorder that they carry with them. The blood disorder makes their skin turn blue. The blood disorder of how and why the family’s skin turns blue.…
Discussion All of the points of this research reflect the reasons as to why the hunting of people with Albinism has remained prominent in sub-Saharan Africa. When looking at the role witch doctors play, it is found that they did play a substantial role in Albinos actually being murdered. The people with Albinism would be mutilated so they could then be handed over to the witch doctors, who would, in turn, make them into potions or use them in rituals. Although the witch doctors and the people who hunt Albinos were the ones actually involved, there were many other reasons found that play just as much a role as the people committing the crimes directly. Some of the causes encountered include a school system that is failing to educate students,…
It is an X-linked genetic disorder that typically results in insufficient levels of the glucose-6-phosphate dehydrogenase enzyme. The irregular destruction of red blood cells is triggered by consumption of fava beans when the enzyme is unavailable (Dayer-Berenson, 2011, p. 290). Furthermore, Dayer-Berenson (2011) suggests that Italians are more susceptible to having either alpha or beta thalassemia syndrome in which there is a “reduced or flawed production of hemoglobin,” an essential element for formation of red blood cells (p.…
Depending on the area of the world where the humans lived, they evolved to have dark or light skin; dark if they had plenty vitamin D, light if they didn’t have enough. This difference has led to many different tones of skin from very light to very dark, creating a large diversity across the planet that in the past aided the survival of our ancestors. Big Idea 2: Pages 2-3 With hemochromatosis, the body fails to correctly get rid of extra iron in order to achieve and maintain dynamic homeostasis. Without hemochromatosis, the body utilizes its free energy and molecular building blocks to reduce the amount of iron absorbed by the intestines from food once its recognizes it has sufficient amounts of iron.…
It causes the eyes to turn from blue or grey to purple, six months after birth. And the shade of the eye color to darken during puberty. The women do not get menstruals but are 100% fertile. Other mutations also include the skin’s ability not to tan or burn, keeping the skin pale.…
Hermansky-Pudlak Syndrome (abbreviated HPS) is an extremely rare form of albinism that is caused by a mutation that occurs in one of the following nine genes: (AP3B1,HPS1, HPS3, HPS4, HPS5, HPS6, DTNBP1,PLDN, BLOC1S3) Symptoms of this form of albinism are similar to that of OCA except there are associated bowel, lung, and bleeding…
Vitiligo is a condition in which cells that produce skin color melanocytes no longer function properly. Some cells mysteriously stop working and others are attacked by the immune system. Vitiligo is caused by loss of pigment in the skin due to destruction of pigment forming cells. This disease will cause you to develop multiple patches of white skin. When someone notices they have white patches in areas where skin is most exposed that could be a sign of vitiligo.…
Despite the fact that harsh laws have been passed, no significant change has been seen and attacks still happen today. In the last years, there have been lots of attacks by black marketers who look for albino limbs in order to sell them for witchcraft. Laws which ban witch doctors and the practice of harvesting albino body parts have been adopted, and this acts became punishable by death. However, being an activity happen through the black market, it is extremely difficult to detect. The United Nations high commissioner for human rights, Zeid Ra’ad al-Hussein, announced that in 2015 attacks against albinos had spiked in East…
This article examines the exceptionally rare genetic disease known as Griscelli syndrome. In the first section of the text, a brief description of Griscelli syndrome and its history is given. Following the description, the genetic basis of Griscelli syndrome type 1, type 2, and type 3 is thoroughly examined. Each variation of griscelli syndrome follows the same pattern of inheritance and is generally characterized by pigmentary abnormalities in the skin and hair, however, they each display their own unique sets of associated conditions and symptoms, vary in terms of lethality, and are all associated with mutations in different genes. Researchers have found that Griscelli syndrome type 1 is directly linked to at least two mutations in the MYO5A…
The disease is caused by unequal crossing over is the Alagille syndrome. Its signs and symptoms depend on which part of the body it affected. If it affects the liver, its signs and symptoms are jaundice, itchy skin, and xanthomas. Most people who have this disorder usually “have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin” (NIH, 2016). This disease is associated with other diseases such as pulmonic stenosis and tetralogy of Fallot.…
Introduction: Vitiligo is a depigmenting disorder of the skin, in which melanocytes (pigment cells) are attacked. Melanocytes produce melanin, which determine the color of the skin, hair, and eyes. When these cells are attacked, the skin color becomes significantly lighter. The exact cause of vitiligo is unknown, but the most probable cause believed (in this study) is an autoimmune reaction against the pigment cells. Initial Observation and Question:…
There are many variances in albinism, the two main types are ocular albinism and oculocutaneous albinism. The first mainly affects a person’s eyes, and the latter also affects the eyes but will make also make an individual’s skin and hair white. Oculocutaneous albinism type 1, one of the subtypes of albinism is caused by a mutation in the tyrosinase gene which is due to hypopigmentation due to the lack of melanin production. Currently, there are no known cures for albinism, but there are certain measures that an albino person may need to take. Examples would be to wear glasses or contact lenses for corrective vision and wearing appropriate clothing to protect the skin from the sun.…
The majority of what we as humans experience on a daily basis comes from our sense organs. How we experience these things going on around us is based on our perceptions. Perception is the process of recognizing and interpreting sensory stimuli, from our sense organs: eyes, ears, skin, nose, and tongue. Our vision comes from our sense organ, our eyes and travels to the part of the brain that processes vision, the occipital lobe. From there what we see is a perception of what we are getting from our sense organ.…