Porphyria Research Paper

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

Normal genes are dominant over those that are abnormal for most of the time- but sometimes the trait is dominant, when one parent carries one dominant abnormal gene and one recessive gene and the other parent carries two recessive normal gene’s each child has a 50/50 chance of inheriting the abnormal gene. Out of 1800 disorders that are generally recognized to be transmitted by dominant or achondroplasia (a type of dwarfism) and Huntington’s disease. While these defects can be serious defects that transmitted by dominant inheritance the reason for this is a dominant gene is likely at an early age the children who are affected are apt to die before reproducing, as a consequence the next generation will be the recipient of this defect and it

Hemochromatosis is hereditary and the most common genetic disease in the U.S. This genetic disease is passed on

b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

Philippus Aureolus Theophrastus Bombastus von Hohenheim, usually known as Paracelsus, was born in Einsiedeln, Switzerland on either the 11th November or 17th December 1493. This was the time of the Renaissance. He died on the 24th September 1541. During this period of time surgery was practiced mostly by barbers, who used the same tools for both their trades. Medicine was primitive and painful in this era. There was much controversy over how to manage wounds, for example the argument of whether or not pus was good. Cauterization, or the burning of a wound to close it, was the main way to stop bleeding. All in all, most medicinal views were based off of unproved theories. Magic was not used in healing at this time as witch burnings were still taking place. It was very taboo, and had no place in healing where he worked. As a wizard, Paracelsus is credited

Porphyria, specifically Congenital Erythropoietic Porphyria, is a rare hereditary blood disorder. The likelihood that this disorder will be present is less than one in a million, yet more common in relatively isolated populations.

This connection was made by Canadian Biochemist Dr. David Dolphin, who in 1985, “suggested there could be a link between stories of vampires and case of porphyria. He considered all the symptoms of porphyria and compared them to descriptions of vampires in traditional legends. Dolphin also noted that part of the modern cure for porphyria is a course of injections of healthy blood. He claimed that it was possible that sufferers in the past discovered that they felt better if they consumed other people’s blood.” “The vampire legend presents itself again in the rumors of Vlad the Impaler and Elizabeth Bathory suffering of Porphyria.”

Count Dracula may have suffered from porphyria. This is defined as "a defect of blood pigment metabolism in which porphyria are produced in excess" porphyria is a dark red, photosynthesis pigment consisting of four pyrrole rings linked by single carbon atoms. Because of the monster he was of murdering 200,000 people, his condition could easily be mistaken into a legend of a vampire. Being sensitive to light is a major key to a vampire. As well as his pale skin which would be a result of not being in the sunlight. When you are held accountable for that many deaths, putting his condition together with his actions portrayed him as a myth of the vampire. But in reality he was suffering from

Placidia, an island that was conquered by the French, was later taken over by the British. And then let free once the British found much in the New World. It was given as a present to the English monarch’s son. He then ruled this land and made the French mate the British to create a “new race”. He changed the traditions and made new laws. He invited many people from many European countries for free and let them all live and equal life. Our Island stood alone in the Atlantic; it was known as a paradise. The man who made this land flourish was my great-great grandfather.

Congenital Erythropoeitic Porphyria (CEP), originally called congenital hepatoporphyria (also known as Gunther’s Disease), is the rarest form of a group of uniquely distinct autosomally inherited disorders first classified and discovered by German physician Hans Gunther in the first decade of the twentieth century. Due to its relatively new discovery and rarity, CEP does not have a lengthy history. However, the disease has been historically associated with clinical manifestations including extreme cutaneous photosensitivity, osteopenia, scarring, blistering, corneal ulceration, red urinal discoloration,

Erythropoietic Protoporphyria better known as EPP, comes from a type of porphyria; a group of rare inherited or acquired disorders of certain enzymes that usually aid in the production of porphyrins and heme.This disease is a hereditary metabolic disorder of porphyrin metabolism, then resulting an enzyme deficiency, particularly the enzyme: ferrochelatase. This deficiency causes unusually high levels of protoporphyrin; a biochemical compound needed for the body. Everyone has two genes for ferrochelatase in each cell in their body (one inherited from their mother and one from their father). In over 90% of families, EPP comes from the affected individuals inheriting a gene for a severely under active ferrochelatase enzyme from one parent, and

Rhinophyma is characterized by sebaceous gland hyperplasia and fibrosis causing nasal deformity.(1,2) Clinically, the nose appears erythematous, regular or irregularly enlarged, with prominent pores,(3) dilated infundibula and telangiectasia.(2,4) Severe forms show multiple, firm, smooth-surfaced, erythematous nodules.(4) The resulting cosmetic deformities cause emotional,(5) functional and psychosocial problems for patients with negative impact on quality of life.(1,2,6)

Their skin is sensitive to sunlight, their urine is reddish to purplish in color, the gums are shrunk making the teeth looking more prominent and canine-like and they have an adverse reaction to garlic. Likewise, people suffering from porphyria will feel constant abdominal pains, will have increased hair growth, bouts of vomits and tightened skin. The Vampire Disease is the reason why vampires can be considered real. They exist because the folks during the era of the Inquisition refer to patients with porphyria as “vampires”. However, they are far from what we now see on TV or the movies. They are not dangerous, in fact they are sick. The facts enumerated hereunder are the reasons that gave birth to the contemporary vampires that we now know of.” The Vampire disease was called Congenital Erythropoietic Porphyria (CEP), which is “one of the rarest forms, 18 different mutations in the gene encoding the enzyme uroporphyrinogen III cosynthase have been reported in different families. These mutations obstruct heme synthesis to varying degrees, giving a spectrum of severity. At its worst, CEP causes appalling photomutilations from the light-activated porphyrins, including loss of facial features and fingers, scarring of the cornea and blindness. The condition may have been less rare in the past, especially in isolated pockets where inbreeding could occur such as the valleys of Transylvania--perhaps

The belief in vampires comes from superstition and mistaken assumptions about human decay. The first recorded accounts of vampires follow a consistent pattern: Some unexplained misfortune would befall a person, family or town — perhaps a drought dried up crops, or an infectious disease struck. Before science could explain weather patterns and germ theory, any bad event for which there was not an obvious cause might be blamed on a vampire. Vampires were one easy answer to the age-old question of why bad things happen to good people.