The Fabry Disease
Classification
The Fabry Disease is a hereditary disorder, caused by the lack of alphagalactosidase A. It is an x-linked recessive inheritance. Therefore it is the females that carry it. The ones who are mostly affected by this disease are the males. Female carriers, though, may develop angiokeratomas and may have problems with burning pains. Very few of the carriers may also have kidney or heart problems. This disease occurs in 1 of 40,000 people.
Descriptions
A person with the Fabry disease develops angiokeratomas, which are clusters of raised, dot-like lesions. Appearing during childhood or puberty in the genital and thigh areas, these angiokeratomas increase in size and number.
Other symptoms of this disease are burning pains in hand or feet, nausea, vomiting, abdominal pains, dizziness, headaches and generalized weakness.
Swelling of the legs, caused by the gathering of lymph, a yellowish body fluid, under the skin may also occur. Skin will show telangiectasis, inflated intra- epidermal (intra - within, epidermal - outer layer) spaces filled with blood.
Places (vessel wall) where there is no telangiectasis are filled with deposits of glycolipids. These deposits are also found in the heart, muscles, renal tubules and glomeruli, central nervous system, spleen, liver, bone marrow, lymph nodes and cornea. Retarded growth, delayed puberty and ocular abnormalities are also common symptoms. These symptoms are mostly fond in males because they display full-blown syndrome, while females displays a partial form.
Diagnosis
They firsts take a urine sample, which is the first place where they would find anything. Then they would take a blood, bone marrow and ophthalmologic examination.
Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into a detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases.
Canavan disease is thought to effect less than a thousand people in the United States. One in forty are carriers for the disease. It occurs within people of all ethnic backgrounds but most commonly found in the people of Ashkenazi Jewish heritage. This is thought because those of the Jewish faith often marry within the same group or culture. These people are a group located mostly in eastern and central Europe.
Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest by far in the Ashkenazi Jewish population, making it the most common genetic disease within this ethnic group.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
Lou Gehrig's disease is often referred to as Amyotrophic lateral sclerosis (ALS), this is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons come from the brain to the spinal cord and from the spinal cord to the muscles throughout the entire body. The progressive degeneration of the motor neurons in ALS would eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is also lost. With voluntary muscle action progressively affected, for this reason patients in the later stages of the disease may become totally paralyzed (Choi, 1988).
S: denotes the number of individuals who are not infected with the disease. These people are vulnerable to catch the disease.
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40,000 to 60,000 have Gaucher disease or about 10,000 people worldwide (Hughes, 2013). In addition, Gaucher disease has a higher frequency among Jews of Ashkenazi (Eastern European) decent: up to 1 in 450 people.
they may carry, which may be passed down to their future children. During a pregnancy, women may also be able to test their unborn babies to see if they would be affected with the disease. Knowing this will allow them to prepare for w...
The Human Papillomavirus (HPV) is the most common sexually transmitted disease in the United States (Cook 210). There are over 100 types of HPV viruses and 30 or more of these viruses that can be sexually transmitted. (Vamos, McDermott, Daley 303). There are approximately 20 million people in the United States that are infected with HPV, and there are about 6.2 million new HPV cases each year (Vamos, McDermott, and Daley 303). Even though most HPV cases are non-cancerous, two of the HPV strains are known to cause 70 percent of cervical cancer, and the other two strains cause 90 percent of genital warts cases (Javitt, Berkowitz, and Gostin 384). Mendenhall, Elisa, and O'Mara stated, "Because of the cancer link, the strains that are the greatest medical concerns are those that are sexually transmitted"(49). It is estimated that it costs the United States about five billion dollars each year to diagnose and treat HPV related diseases (Cook 211).
...dern-day science has created many ways to diagnosis this syndrome, so many women who are affected go undiagnosed.
This type of cancer happens in men, it affects the testicles and it is most commonly known to affect males aged 15 to 44 years old.
Sexually Transmitted Diseases Sexually Transmitted Diseases STDs, a.k.a venereal diseases, infectious diseases passed from one person to another during sexual contact. STDs are the most common infections known. More than 12 million people in the United States, including 3 million teenagers, are infected with STDs every year. The United States has the highest STD rate in the world about one in ten Americans will contract an STD during his or her lifetime. People who do not know they are infected risk infecting their sexual partners and, in some cases, their unborn children. If left untreated, these diseases may cause pain or may destroy a woman's ability to have children. Some STDs can be cured with a single dose of antibiotics, but AIDS cannot be cured. Those most at risk for contracting STDs are people who have unprotected sex—without using a condom, people who have multiple partners, and people whose sex partners are drug users who share needles. Static’s show that Americans between the ages of 16 and 24 are most likely of catching STDs than older adults, because younger people usually have multiple sexual partners than an older person in a long-term relationship. Teenagers may be embarrassed to tell their sexual partners they are infected Teenagers may also be embarrassed or unable to seek medical attention for STDs. This means that they only more likely to pass the disease to other young people and have a greater risk of suffering the long-term consequences of untreated STDs. STDs are transmitted by infectious bacteria, viruses, parasites, fungi, and single-celled organisms called protozoa that live in warm, moist parts of the body, like the genital area, mouth, and throat. Most STDs are spread while having sex, but oral sex can also spread disease. Some STDs are passed from a mother to her child while pregnant, when the disease enters the baby's bloodstream, during childbirth as the baby passes through the birth canal, or after birth, when the baby drinks infected breast milk. AIDS can be transmitted by blood contact such as open wounds, between people who share infected needles or received through an injection of infected blood. Some people believe that STDs can be transmitted through shaking hands or other casual contact, or through contact with inanimate objects such as clothing or toilet seats, but they can’t. Chlamydeous, is from trachoma is bacterium, is the most commonly transmitted STD in the United States.
The condition is more common around tropical locations. There are 856 million people constantly threatened by the disease. It is a discarded issue as it isn’t affecting any developed countries however that does not change the fact that more than 100 million people are disfigured due to this horrid condition. The condition brings irritation to a person and does not allow them to have the freedom of movement. It restricts and limits a person to certain movements. Another symptom of the disorder are repetitive fevers and
“Two decades after HIV first appeared an estimated 30 million people worldwide have contracted the virus; 11.7 million people have dies of AIDS” (Frankowski xi). This deadly virus has continually and rapidly spread to all different people. Around the world this virus is a major problem and is affecting more women and children then ever before. Although when this disease first appeared it was male dominated, but they have passed it on to the women and in which case they pass on to their children when they are in the womb.