Chromosome instability in cancer development



Dr Ian Hickson explains how understanding chromosomal instability could allow for new targets and drugs that would keep the chromosomes stable by exploiting defects in genes and targeting the instability.

Dr Hickson’s current research involves the genetic disorder Bloom syndrome, a rare condition that has the potential to develop all types of cancers. Interestingly Bloom syndrome is the only genetic disease that is associated with all types of cancer.

What Is a Butterfly Rash and What Causes It?

There are many types of rashes and each has its own characteristics and causes. One kind of facial rash is called a malar rash in the medical field, but it is more commonly known as the butterfly rash. The rash gets its unusual name from the fact that it always appears on the face where it spreads across both cheeks and the bridge of the nose, which forms a shape very similar to that of a butterfly.

Butterfly rashes are usually linked back to another condition called systemic lupus erythematosus, but this unique rash can also be a symptom of other disorders like Bloom Syndrome, rosacea, Pellagra and dermatomyositis. All have different causes and special tests have to be performed to find out the root of the problem. It has also been shown that certain activities can also trigger the appearance of a butterfly rash, though. This includes being in chlorinated water found in swimming pools, spending time outside, exposure to sunlight or even taking certain medications that cause an adverse reaction.

Besides the distinctive shape and the location of a butterfly rash, there are also other signs that appear. The rash itself is almost always reddish to purple in color and it sometimes appears to be scaly. Just how visible and scaly the rash is depends on how intense it is and the severity also determines just how discolored the skin will be. In mild cases of butterfly rash, the skin discoloration is mild, but in severe cases it is not unheard of for the rash to actually be bright red and climb up to and around the eyes.

Although a butterfly rash can look extremely irritated, it is fortunately not itchy or painful. People suffering from this type of rash, though, are often very self-conscious and feel uncomfortable going out when this rash breaks out since it is very visible. This unwanted attention from others can even lead to social problems in extreme cases.

The treatment of a butterfly rash is dependent upon the cause and that has to be determined before any medications can be prescribed. Since the causes range from nutrient deficiency to autoimmune disorders or even chromosomal disorders, it is necessary to have the right examinations and testing done. Specialists can help to determine if it is genetic or not, but the patient suffering from butterfly rashes can also help by keeping a journal on the outbreak. It is important for any doctor to know when the rash appears, what was being done when it occurred and even how long it lasts once it appears.

One of the most effective ways to deal with a butterfly rash is to take an anti-inflammatory drug. This almost always reduces the rash intensity and since there are several drugs in this class to choose from, it is possible to find one that will not cause the patient other negative side effects. Other options include dietary changes or applying topical creams. However, if the discoloration is not severe and the patient is not bothered by their appearance, the most recommended treatment is to simply wait for it to disappear.

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Numerous diseases are caused by problems in DNA replication or repair. For example, Bloom Syndrome is caused by a mutation in one of the helicase enzymes involved in DNA replication. Select one of the enzymes involved in DNA replication or repair and find a disease related to a mutation in this enzyme (a few of these diseases are mentioned in your textbook). Then, in at least 3 pages, address the following topics:

What is the specific mutation?
What are the symptoms of the disease?
How was the relationship between the mutation and the disease discovered?
How does this mutation impact DNA replication and repair and how is this different from normal DNA replication?
How does this mutation impact transcription and translation and how is this different from normal transcription and translation?
How does this problem in DNA replication lead to one symptom of the disease?
Give two examples of how genetic engineering technology could be used to learn more about, detect earlier, or treat this disease? Be sure to include a description of what genetic engineering is.
You should write this Assignment as an integrated pa

Telangiectasias and Spider Veins – Common Questions Answered

Small blood vessels, sometimes called spider veins or more appropriately telangiectasias, can be an unsightly problem. They can also represent a more serious underlying disease. This primer is aimed at helping patients to understand the causes of spider veins and some of the treatment options.

What are spider veins?

Spider veins also referred to as vascular spider, arterial spider, spider nevus, or spider telangiectasia are small visible blood vessels. They may represent either small arms or veins.

What causes telangiectasias?

Telangiectasias can occur naturally in otherwise healthy patients. They may also represent a more serious medical condition. Those illnesses associated with telangiectasias include:

· Ataxia – telangiectasia
· Bloom syndrome
· Cutis marmorata telangiectatica congenita
· Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
· Klippel-Trenaunay-Weber syndrome
· Nevus flammeus such as port-wine stain
· Rosacea
· Spider angioma
· Sturge-Weber disease
· Xeroderma pigmentosa
· Liver disease

Spider veins or dilated veins in the legs can also represent a more serious blockage of other vessels in the legs. For patients with minimal telangiectasias that present a cosmetic concern, additional workup is not often undertaken. Evaluation by a trained physician before any treatment is undertaken is necessary to ensure that the spider veins do not represent a more serious medical condition.

What are my treatment options?

If the spider veins are caused by a medical condition, the key to treatment is treatment of the underlying medical condition. If the concern is only cosmetics, there are several options depending on the size and location of the vessel. For small vessels on the face, intense pulsed light system or green light lasers such as KTP can be used to treat the lesions. For larger vessels, electrocautery, ligation, endovascular clotting techniques, or sclerotherapy can be used to shut off the blood flow to the vessel and make it disappear.

What is the first step in treatment?

The first step in treatment is consultation with a physician who specializes in treating vascular lesions. A good starting point for lower extremity lesions is a vascular surgeon, preferably one who is versed in treating not only the medical causes of the problem but also versed in the use of lasers and other techniques to address the aesthetic problems associated with them. For facial lesions, a facial plastic surgeon or general plastic surgeon can certainly both diagnose and treat small vascular abnormalities such as telangiectasias.

Telomerase Enzyme – Most Effective Anti-Aging Supplement

Telomeres are the structures at the end of chromosomes that are characterized by thousands of tandem repeats of the nucleotide sequence TTAGGG. Studies reveal that at every passage stage of human life these sequences of nucleotides shorten gradually during every process of cell replication and division. The length of the telomere faces gradal decline. This shortening of the telomere is believed to cause consequent cellular damage on account of the insufficiency of the cell to duplicate itself efficiently. Here we have a sequence of events from slowly progressing cellular dysfunction to consequent aging phenomena finally leading to death.

The enzyme telomerase is responsible for maintaining the integrity of these telomeres. Chromosomes are crucial part of all our functions and this integral part of the human system is maintained in aspects relating to structural integrity, positioning and accuracy of replication by the telomeres. By adding multiple repeats of nucleotides to the telomeres, the telomerase enzyme results the damage and the loss of genetic information during DNA replication. The Scientist has come to this conclusion that telomerase is the key hormone that aids genetic repair and replace telomere sequences consistently thus re-regulating the clock that controls the life-span of the dividing cells.

Telomerase is made up of a number of multiple protein components and a stretch of RNA that is used as a template to synthesize the short tandem repeats of DNA that are added to the end of the chromosomes. Telomerase appears to be the enzyme that stops the cellular clock of aging by providing additional DNA to the chromosomal length and enabling cell division to continue to proliferate and regenerate. Therapies are being fabricated that may help to prevent the deteriorating effects of aging by maintaining the length of our telomeres. This would strengthen and stabilize our basic DNA structure.

While there are popular supplements to fight against aging like vitamin E, fish oils, vitamin D3 and resveratrol that claim to enhance the telomerase activity and lengthen the telomere length, there are now available telomerase supplement itself that is synthesized using live cell cultures and marketed in the anti-aging product industry. The latter promises to deliver the exact enzyme that other are degraded in our body day by day as we age. A series of other tests and research on other genes involved in aging is also mandated in order to alter their function in order to achieve optimal health with longevity. This not only improves the chances of extending your youthfulness but also would prove beneficial in curbing the likelihood of the occurrence of aging related syndromes like Werner syndrome, Alaxia telangiectasia, Bloom syndrome, Fanconi anemia, Nijmegen breakage syndrome and so on.