GENETIC TESTING FOR THROMBOPHILIA

For tombofilia means a predisposition to the development of thrombosis , and can be inherited in our genes. La trombosi è un accumulo organizzato di piastrine , fibrin , globuli rossi e bianchi all’interno di un vaso arterioso o venoso. The severity of the disease will of course be correlated with the seat , the extension and combination with other pathological processes. In the perspective of prevention can be carried out to date of genetic testing on blood sample or buccal swab which are in addition to the usual blood tests for the evaluation of thrombophilic state. The main mutations ripetto now seek to Factor V Leiden , al Fattore II ( Prothrombin) and the enzyme MTHFR for Homocysteine.

OF THE FACTOR V LEIDEN ( G1691A)

The Factor V Leiden (activated) is a very important cofactor for the conversion of prothrombin to thrombin in the process of thrombus formation. It is activated , passing from factor V to Vattivato , favorito della proteina Cattivata che si forma dalla Proteina C sotto stimolo della Proteina S. The antithrombotic effect triggered by Protein Cattivata is expressed by the “cutting” of FattoreV into three parts of which one is represented dall'amminoacido arginine in position 506. The genetic mutation leads to the substitution of arginine with glutamine. The latter preventing the “cutting” Protein Cattivata gives the Factor V a higher prothrombotic activity. This variant is called G1691A and has a frequency of 2-4% in Europe( heterozygosity 3% and homozygosity 1:5000). The thrombophilic risk is increased by 8 times for subjects carrying the mutation in the heterozygous and 80 times for those homozygous. The mutation becomes particularly important in association with other conditions such as pregnancy thrombophilic , use of oral contraceptives , surgeries , trauma , varicose veins of the lower limbs. In pregnancy , also a condition of heterozygosity , predisposes to spontaneous abortions.

FACTOR II – Prothrombin (G20210A)

Il fattore II o Protrombina svolge un ruolo fondamentale nella coagulazione poiché la sua trasformazione in Trombina favorisce il passaggio del Fattore I (Fibrinogen) Fibrin in with consequent formation of coagulo.La mutation is manifested by the substitution of a guanine with an adenine at position 20210 from which G20210A. The frequency of the variant is low about 1 %con una percentuale di eterozigoti del 3% mentre l’omozigosi è molto rara.Per gli eterozigoti c’è un rischio aumentato di 3 times to develop a venous thrombosis , of 5 times for ischemic stroke, of 5 times for myocardial infarction in young women, of 1,5 times for men, of 7 volte nei diabetici, of 10 times to thrombosis of the cerebral veins and 149 volte in donne che assumono contraccettivi orali.

MTHFR – methylenetetrahydrofolate (C667T – A1298C)

Homocysteine ​​is an amino acid whose accumulation would increase the risk of venous thrombosis , infarto miocardico e ictus. The conditional is necessary because many studies are still underway to ascertain the true correlation between the accumulation of the amino acid and pathological events. However, it seems that the deposit of homocysteine ​​in the intravascular endothelial injury and it increases platelet adhesiveness processes. The homocysteine ​​to methionine in the transformation process also needs of’ MTHFR. I difetti genetici portano alla diminuzione della disponibilità dell’enzima con accumulo di omocisteina. A genetic mutation of the enzyme MTHFR is the mutation from cytosine to thymine in position 667 which leads to a reduction of activity by about 60% resulting in the accumulation of homocysteine. In Europe we have a percentage of 3% with 45% of heterozygosity and 10% homozygosity. Another mutation is the substitution of an adenine with a cytosine in position 1298 resulting in decreased levels of MTHFR and elevated homocysteine. The damage caused dall'iperomocisteinemia would be gradual and initially asymptomatic. The cardiovascular risk occurs however in subjects with reduced folates. It is therefore important to take folic acid in order to minimizzarei risks.

CONCLUSIONS

All genetic variants exhibited can occur singly or in combination. Obviously the cardiovascular risk increases with the mutations , their presentation (homozygosity / heterozygosity) and all'associazioni of other predisposing factors. In the presence of inherited thrombophilia is useful to perform tests in order to implement a lifestyle or treatment conforming or indications of further controls to minimize the cardiovascular risks. The indication for the tests shall be given by a doctor, and possibly supplemented with additional examinations. Genetic testing can be performed via overexposed buccal swab or blood sample from an alternative to reporting in a few days.  

THE Poterium spinosum and berberine: INSULIN PLANT

of VLADIMIRO PIGEONS

The Poterium spinosum, also known as Pimpinella spinosa (or as a plug ourselves in Tuscany) is a perennial shrub belonging to the family Rosaceae higher among 30 e i 60 cm of Middle-Eastern origin (Lebanon in particular) traditionally used in the geographical region for the prevention of diabetes and the treatment of disorders related to blood glucose. It grows mainly in Eastern Southern, in Greece, in Dalmatia, in Cyprus, Crete, Syria, Libya and Tunisia, but also in Italy in arid regions, such as some areas of Sardinia and Sicily. Historically there have always been the Bedouins to use as antidiabetic knowing the virtues hypoglycemic. Among these populations fact has been observed, as has often happened in the past for other great discoveries (omega 3 and heart attack for the Eskimo population, curry and Alzheimer's disease for the Indians, etc.…etc ...) that the Berber people who made great use, while feeding with a diet rich in carbohydrates and sugars, had very low incidence of diabetic diseases. The Bedouins fact are still usual bake the roots of this plant for long then sip during the day. In this way are able to maintain a low level of sugar in the blood while avoiding the well-known “blood sugar spikes” in the course of the day. In Italy it is still little known despite the latest research have now made clear what the operation of its main active: berberine. The first physician to use in our country was the dr. Luigi Oreste Speciani, who left a great legacy in the world of natural medicine (particularly with regard to his studies on the so-called “integrated man”, which has highlighted the report and the interference between the environment and humans and whose work today is a mainstay of Psychosomatic). It was he who obtained the first important results through the use of Poterium spinosum. Berberine is found not only in Poterium spinosum, but also in other plants, one of which is the Hydrastis canadensis, a plant used in herbal medicine for urinary tract infections. In 2010 was issued a warning about its use for a suspected risk of venous thrombosis, but there has not been a result of this news and today is normally marketed in various formulations. Its action is synergistic with silymarin, the active ingredient in milk thistle, a native plant very active in the prevention of hepatic steatosis and liver poisoning. It 'has been observed that in case of metabolic syndrome (that is when high blood pressure, high cholesterol and high sugar combine) His power increases when combined with milk thistle. Recent research on it have shown that it is able to reduce triglycerides, the risk of atherosclerosis and lower systemic inflammation, real target of global research at this time. However, it is possible that it is not the only berberine to have this hypoglycemic action, but rather a pool of substances contained in it. A German chemist Aiman ​​Kuzbari had collected a lot of evidence on possible actions and mechanisms of operation of the plant, but unfortunately his notes were lost after his death. He believed that they had more than one active principles responsible for the hypoglycaemic action of the plant, and that among them there was one that can very easily the islands of Langerhans, damaged cells in diabetes. In addition to these functions, the Poterium spinosum was used is known for its peripheral vasodilator action and corononarica, antihypertensive and antiarrhythmic, proving therefore very flexible for the protection of health in old age, but especially by the numerous damages that the diabetic disease produces the cardiovascular apparatus. It is a plant of which have never been observed side effects, which in the form of decoction can be used at a dosage of 20 grams per liter of water, but which can also be employed in the form of mother tincture.