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Aurora magazine

The blog about the prenatal genetic of latest generation

SMA: the treatment nusinersen shows positive results

The Lyon Congress of the European Paediatric Neurology Society brings good news. Nusinersen, the new drug against spinal muscular atrophy (SMA), is good. Early trials had already proven the safety of the drug while these showed their efficacy against the disease.

The researchers submitted two studies, conducted using the same molecule on two groups of patients. The ENDEAR study involved SMA children of type 1; CHERISH study involved children over 2 years of age. The first study showed an increase in survival rate and functional improvement. So not only did the drug stop the disease, but it has regressed it. Improvements also present among the participants in the second study.

he drug acts on the SMN2 gene and stimulates it to produce homonym. In this way it protects the motoneuron, otherwise destined to die due to the SMN protein deficiency. It is administered by injections between the vertebrae, so as to inject the active principle around the marrow. A somewhat annoying procedure, however, which little patients have become accustomed to.

At present doctors did not report adverse drug reactions. The few discomforts come from the method of administration, but are mild in comparison to the benefits gained. Injections also decrease with time. It starts from 3 in the first month, followed by 1 shortly after and continues with 2/3 per year.
For the moment nusinersen is available in Italy only for compassionate use, so for children at risk of survival. However, many patients are expecting to market in our country.

Source: panorama.it

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A new prenatal test could predict the risk of abortion

A prenatal screening test can predict the risk of spontaneous abortion. In fact, it is calculated that 1 pregnancy 4 is concluded in this way. The rate becomes even higher as the woman's age rises. Glasgow researchers have discovered how to predict this possibility.

During pregnancy the body produces a hormone called corona gonadotropin (hCG). They release the cells that are formed in the placenta. These nourish the ovum after fertilization and after implantation in the uterus, allowing it to develop. In a healthy pregnancy, hCG levels are rising almost immediately in the first trimester.
The researchers examined guinea-pig gonadotropin levels (hCG) in 2,000 women. The participants in the study had just completed the pregnancy test, with a positive result. After the first test, they did a second check eight weeks later. From the data collected, it emerged that those with higher hormone levels had 86% chance of completing pregnancy. For those with very low levels, the possibilities were only 2%.

The discovery allows you to find out in time if your pregnancy will be successful, with a simple test. A useful test especially for those who undergo assisted fertilization. Spontaneous abortions are indeed a very tough part of a child's search process. Knowing for a long time if the conception is followed will allow many couples to prepare psychologically. It would also allow physicians to support these people more effectively.

Source: telegraph.co.uk

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Infertility: a treatment comes from the past

It has been on the market for more than 50 years, it has a tremendous cost and is as effective as the hormones used today. It's clomiphene, a drug used to stimulate the ovaries and not hormones. The news comes from Dr Noor Danhof in Amsterdam. Along with his team he compared hormone therapy and clomiphene therapy. He has thus discovered that clomiphene is as effective as hormones and less expensive.

Ovarian stimulation with intrauterine insemination is one of the main approaches in case of unexplained infertility. The number of primary follicles increases, so that fertilization is easier. However, the procedure increases the chances of multiple pregnancies, with all the risks involved. That is why the researchers are looking for a way to stimulate the ovaries by limiting the multi-lingual parts.

Routine treatment for ovarian stimulation involves daily injection of follicle-stimulating hormone, FSH. The alternative is a shorter cycle of clomiphene, to be taken orally. Doctors disagree on what is the best option. The Dutch researchers then compared the two treatments. The results did not reveal statistically significant differences.

The researchers followed couples from 24 fertility centers, suffering from unexplained male infertility. They treated 369 women with FSH and other 369 with clomiphene. They then proceeded with intrauterine insemination. The results showed a 31% success rate in the first group and 26% in the second group. In the first group, little more than 1% of women had multiple pregnancies, compared to 2% of the second group. According to the authors of the study, the difference is present but not statistically relevant.

Dr. Noor Danhof says that stimulation with clomiphene is as effective as hormone, only at a lower cost. While an FSH cycle costs 200 euros, one of clomiphene costs 5. Clomiphene is also taken orally, while hormones are injected with all the problems that result.

Source: medicalxpress.com

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Arthritis medications are safe during pregnancy

The anti-inflammatory drug against certolizumab pegol arthritis is also safe during pregnancy. In fact, it stops in front of the placental barrier and can not reach the baby. The discovery was made by a team led by Dr. Xavier Mariette of the Paris Bicêtre Hospital.

The study involved 16 pregnant women between 1st and 30th week of gestation. Women were taking 200 milligrams of certolizumab pegol every 2 weeks and 400 every 4 weeks. The reasons for pharmacology therapy ranged from rheumatoid arthritis to arthritic psoriasis, including Crohn's disease. All patients continued with therapy up to 35 days before the expected date of delivery.

Once the children were born, the researchers used microplates to analyze their blood. Physicians have sampled between the 4th and 8th week of life. In the case of 14 of them, they also managed to get a blood sample at birth. They checked if there was any evidence of the drug taken by the mothers in the children's body.

The data did not show significant levels of certolizumab pegol in 13 of the 14 samples harvested at birth. None of the samples collected in the following weeks showed traces of the drug. There were also no antibodies that would suggest a reaction to the drug. This demonstrates that the therapy does not affect the child's health as the drug clings to the placental barrier.

Source: medicalnewstoday.com

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