Breast Cancer

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What is breast cancer and how prone am I to get it?

Breast cancer affects more and more women. It is estimated that one in eight women is going to have this type of cancer. Breast cancer develops in different tissues of the breasts. There are different  factors that lead to this condition. Most of them are inevitable. These risk factors include:

  • Age – as the woman gets older the risk of being diagnosed with breast cancer increases
  • Cancer history – if there were cases in the family of breast cancer before, then chances of contracting this disease are higher
  • Genetic information – we do not choose what genes to wear in our cells, but when the human genome was decoded in the Human Genome Project it became obvious that some people are more prone to specific diseases than others
  • Radiation – this is a factor that causes all kinds of cancer, as well as other diseases

These are the basic factors that increase the chance of breast cancer. Read more

Down syndrome

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Down syndrome is due to a chromosomal abnormality of the numerical type. There is an additional chromosome 21 to the karyotype. Therefore they have 47 chromosomes (47XX+21 for girls and 47XY+21 for boys). This larger number of chromosomes is the reason for different changes in the normal development of the body and the brain. This syndrome is the most common reason of birth defects with people. Usually there is one incident in 2000 conceptions. This rate is with women under the age of 25. The older the women are, the higher the chance of Down syndrome is.

In 4% of the cases except a trisomy 21 there is also another chromosomal abnormality. It occurs a translocation between chromosome 21 and chromosome 13, 14 or 15. This causes additional changes in the normal development.

Symptoms of Down syndrome

With this syndrome symptoms can vary with different people. They could be really mild or severe.

There could be growth retardation, mental retardation, hypotonia, leukemia, thyroid dysfunction, cardiac defects, decreased muscle tone. The head is smaller and with a different than the normal shape. There is a flat face and small ears. Down syndrome is characterized also by premature aging, small mouth, upward slanting eyes. The hands are short, as well the fingers. The eye has white spots on its color part.

As shown the result of this syndrome affects both outlook and the normal structure and functions of organs. For patients with Down syndrome is typical to have poor judgement, impulsive behavior, as well as a slower learning process. There are particular medical related conditions that could occur as well. Such are dislocations in the hip zone, dementia, cataracts, problems with hearing.

Treatment methods

So far there is no particular treatment, that can make these chromosomal abnormalities fade or decrease their effect on the organism. Sometimes there could be done surgeries of the heard or other systems and organs, which are affected and cause risk of death.

There are different trainings that prepare the parents and the child with Down syndrome, that to some extent helps them to go through this together and not lose their positivity and love for life.


Klinefelter syndrome

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Chromosome abnormalities can occur in both autosomes and sex chromosomes. When occurring in sex chromosomes there could be different outcomes. One of them is trisomy, where men have two X chromosomes and one Y chromosome. Because of this they have 47 chromosomes and their karyotype is 47XXY. It is called Klinefelter syndrome. This anomaly is seen only with men. Signs of it usually are noticed during puberty, where there are some changes in the outlook than a normal male development.

Signs of Klinefelter syndrome

Men with this anomaly in most cases are sterile, low development of the testicles ( testicular atrophy), gynecomastia ( increased size of the chest) and hyalinization of the seminiferous tubules. There is also a presence of sex chromatin (Barr) body. This body is typical of one of the two chromosomes in women. Having two X chromosomes in men is the reason for the forming of this body. There is also less amount pubic hair than normal. The same is for the hair of the armpits and face. Body proportions are different than normal as well. Usually there are long legs and short trunk, as well as same sized shoulders and hips.

Tests and treatment

Determining this anomaly can happen by performing tests such as karyotyping and semen count. Hormone levels could be checked as well by blood tests. Usually the analyzed hormones are Estradiol, Follicle stimulating hormone, Lutinizing hormone and Testosterone.

As treatment testosterone could be prescribed to the patient. The purpose of this is to grow more hair, improve muscles and concentration, increase strength, mood and self esteem.

How often does it occur?

The frequency of this anomaly is one in 500 newborn males. There are cases where there could be more than two X chromosomes. For example there could be three (48XXXY). That means there are 44 autosomes and 4 sex chromosomes in the child’s cells. The larger number of X chromosomes makes it  more likely to have mental impairment.