Bloom Syndrome Research Paper

According to the National Foundation of the Jewish Genetic disease there are seven that all Jews should be aware of. The first is called the Blood syndrome, which is a disease causing shortness in

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Patient denies history of skin disease. Reports two serious sun burns while swimming and not re-applying sun screen. Reports occasional dryness of skin during the winter. Denies any

Babies skin is very delicate and sensitive to UVB rays (3). The American Pediatric Association (AAP) recommends that babies younger than six months of age avoid direct sun exposure to reduce their risk of future skin cancer (3).

Familial melanoma is a genetic or inherited condition. This means that the risk of having a melanoma can be passed from generation to generation in a family. Ordinarily, each cell has two copies of each gene: one inherited from the mother and one inherited from the father. Familial melanoma follows a dominant inheritance pattern, in which case a mutation happens in only one copy of the gene. As every cell has two copies of each gene, it means that a parent can potentially pass along a copy of his or her normal gene or a copy of the mutated gene. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A related person such as a brother or a parent of the person who has a mutation also has a 50% chance of having the same mutation.

There are treatments to make living with this disorder a little easier. Babies born with this need immediate and intensive care in the NICU. Babies born with this are less able to maintain a safe body temperature. They are more prone to fluid loss, dehydration, and life threatening infections. In their first week of life to have any chance of survival they may need: intravenous tubes to deliver fluids and nutrients. They also need monitoring of electrolytes and sodium, lubrication for their eyes if they’re forced open. With having this disorder they have a hard time keeping their body temperatures normal, which means they need help in doing so… They need to be in a high humidity incubator to even maintain a normal body temperature and prevent cracks in their skin. The Doctors can prescribe antibiotics so the infection does not spread any further. Doctor can also prescribe retinoids which is any type of cream to accelerate the shedding of the skins scales. It is an ongoing treatment of keeping the skin moisturized and avoid more scaling or cracking that could lead to more infection. How long do babies diagnosed with this disorder

The skin disorders that might results from hereditary, congenital, or acquired pathological processes are ichthyosis, bullous diseases, chronic infections of the skin, dermatitis, hiradenitis suppurativa, genetic photosensitivity disorders, and burns.

The treatment depends on their specific symptoms. If an individual’s heart is affected, then they would be treated just like any other individual with a heart condition. If they have growing problems it is most likely due to the fact that they don’t have enough hormones. If that is the case, then the individual would be given growing hormones as a treatment. Early development disabilities are dealt with during therapy when the right equipment is present. If the individual had bleeding problems, then the treatment all depends on their

Skin rashes and sun sensitivity is another one of the symptoms. Patients (as mentioned earlier) will have rashes throughout their body and even on the face. And, because of the rashes, this causes patients to have an extreme sensitivity to sun and they may even burn easily.

When treating patients who develop cancer with this disease, there are limited options. Since Bloom's Syndrome sufferers have a hypersensitivity to exposure radiation and chemotherapy treatments can severely damage the patients' delicate chromosomes (Freivogel 172).

Benjamin Bloom developed Bloom’s Taxonomy in 1956. It identifies three domains: cognitive, affective, and psychomotor, used to evaluate knowledge assimilated by the learner. Each domain has hierarchical categories that progressively measure the level of understanding achieved. This paper reviews each domain and list the categories found within, discuss how Bloom’s taxonomy apply to the case study presented by Larkin and Burton’s article ‘Evaluating a Case Study Using Blooms Taxonomy of Education’, and highlight the benefit of Bloom’s taxonomy as it relates to developing individualized nursing instructions.

Lynch syndrome (LS) is a genetic disorder which increases the risk for other types of cancers and can have

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.