vendredi 21 mars 2014

Genetic mutation



Genetic mutation
A genetic mutation is a change in the DNA sequence of a gene. This results erroneous information in making proteins. Thus, proteins are absent, deficient or inadequate.

Causes genetic mutations
This change of the genetic information may cause, during the translation of the DNA, the production of a protein does not function properly. These genetic mutations may be due to both external and internal factors:

- Internal factors generate mutations called spontaneous mutations occurring during cell replication.
 In general, they are rare and random, and therefore they are the main source of genetic diversity, engine of evolution. The causes of spontaneous mutations are unknown.

- Possible external factors are physical or chemical compounds; they can significantly increase the rate of mutations in certain circumstances. They are called mutagens, such as electromagnetic waves (X rays, gamma rays, ultraviolet rays), cigarettes, alcohol, or chemical substances like pesticides, benzene derivatives, solvents, colchicine, (they cause an alteration in the number of chromosomes).

If a mutation affected the sex cells (called germ), it is transmitted to the descendants of the mutant individual. The new gene sequence is then called an allele. In some cases, this mutation may provide a selective advantage or otherwise be defective.

This is the basis of the process of evolution (this is the natural selection).
However, for most accidental mutations (caused by irradiation or chemicals), if it affects non-sex cells (called somatic), mutation is not transmitted and affects only the subject having suffered directly. If there is an uncontrolled overproduction of cells, there is the possibility of creating a tumor may develop into cancer. On the contrary, the effect without excessive division is negligible. So, in conclusion, some of these mutations can be harmful to the human body causing serious illnesses can be fatal.



vendredi 31 janvier 2014

What is mitochondrial DNA



Mitochondrial DNA is a circular DNA molecule that's found in the mitochondria. This DNA molecule codes for a part of proteins and RNA specific for the functioning of the mitochondria.
The advantage of using mitochondrial DNA to analyze the genetic diversity of our ancestors lies in the fact that mitochondria are only transmitted by the mother.
 
Mitochondrial DNA is outside the chromosomes of the cell, in the mitochondrion. The mtDNA is inherited from the mother. That is why all children of the same woman have the same mtDNA. Children of girls from this woman also will possess the same mtDNA, and so on. The mtDNA is passed on to children by the mother only. An analysis of mitochondrial DNA (mtDNA) will let you know the history of your family maternal line.


samedi 11 janvier 2014

Thyroiditis treatment



Type of pathology and treatment

Hormonal pathology:

Hyperthyroidism
The thyroid works overspeed (T3/T4 high and TSH low). This may be due to the presence of hyper-secreting nodules.
Treatment
Antithyroid
Radioiodine (mainly hyperfunctioning nodule)
Surgery is considered only in cases of recidivism or become pregnant.

Hypothyroidism
The thyroid is idling (low T3/T4 and increased TSH)
Treatment
Synthetic hormones

Morphological pathology:

Nodules
The nodules are very common: 50% of the population has a nodule of thyroid greater than 1 cm. However, there are several types of nodes according to their size, of their activity and their malignant or not.
Treatment
Surveillance or surgery in case of suspected cancer (nodule of more than 3-4 cm, too many nodules ...)

Goitre
Simple goiters are distinguished (often origin familial) and nodular goitre (with a significant number of nodules).
Treatment
Surveillance or surgery if the number of nodules is too large or the risk of cancer is high.

Thyroid Cancer
5% of thyroid tumors are cancers. Increasing, these cancers are touching three times more women (4000 to 6000 cases per year). Detected early, chances of healing are close to 100%.
Treatment
Surgery with total thyroidectomy (total removal of the gland) followed by: taking thyroxine (T4) to compensate for the absence of thyroid and use of iodine-131 for thyroid eliminate possible residues.

vendredi 3 janvier 2014

Hypothyroidism




 

The thyroid gland located in the neck, in front of the trachea, which is similar in form to Butterfly, it has a pinkish color. It consists of two lobes, measuring six centimeters high and six centimeters wide and whose weight does not exceed 30 grams. 

Symptoms of thyroid deficiency:
- Fatigue and a feeling of apathy.
- Mental blankness.
- Do not bear the cold.
- Feeling depressed or idle emotions.
- Constipation.
- Muscle pain.
- Skin dryness or desquamation or swell.
- Tingling in the fingers or toes.
- Lack of carrying  sports effort.
- Pain in the joints.
- Hoarseness.
- Irregular menstrual cycle.
- Significantly overweight despite poor appetite.
- Hair dryness and brittleness.
- Weak pulse with swelling in the neck.

Causes that may lead to failure in the secretion of thyroid:
- Lack of eating food containing iodine.
- May be a genetic condition common among family
- As a result of hormonal imbalance (as in menopause).
- Can be in a very few cases result of  insufficiency in  thyroid secretion after pregnancy and childbirth.