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Aurora magazine

The blog about the prenatal genetic of latest generation

Longer sperm cells give life to healthier children

Spermatozoa produced several days before fertilization give life to healthier children. This is stated by research by the University of East Angli and Uppsala University. The scientists analyzed a group of zebrafish and compared the health status of the offspring. The discoveries made may also have implications for human in vitro fertilization techniques.

The ejaculated sperm can contain spermatozoa inside several days or more. Scientists have collected the sperm of some zebrafish and divided it into two: on the one hand they put the older sperm and the other on the newly produced sperm. At this point they fertilized eggs and compared the broods of the two groups.

The researchers monitored zebrafish for two years, checking their and offspring's health. The babies born of the old sperm were healthier and longer-lived than the brothers. In addition, their babies turned out to be healthier and longer-lived. This sheds new light on the sperm selection procedures used for in vitro fertilization. Scientists already knew that every single ejaculation can contain different types of sperm.

The gametes can have different sizes and shapes, be more or less fast and carry different genetic material. Until now, however, the age of the single spermatozoon was considered irrelevant. Wrongly, because the consequences could be very relevant to the offspring.

Source: comm.uea.ac.uk

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West syndrome: causes and symptoms

West syndrome is a rare form of epilepsy. The first symptoms manifest themselves in neonatal age: the baby has involuntary spasms, after which they let themselves go to crying. In some cases, spasms are concomitant with a slowing of psychomotor development.

The severity varies from case to case: there are children who at one year old can not sit still. Despite some treatments block the spasms, it happens that the psychomotor delay remains.

The root cause of West's syndrome is a brain abnormality caused by:

  • malformation;
  • infection;
  • lack of oxygen.

Sometimes the cause is genetic or cryptogenic, that is connected to anomalies not yet identified. The genes most affected by mutations are ARX and STK9, but the syndrome may also be linked to trisomy 21 or to a deletion of the 1p39 region on chromosome 1.

The diagnosis of West syndrome occurs through analysis of the clinical picture of the electroencephalogram. The available treatments are mainly pharmacological and serve to stop spasms. In this way a large part of the repercussions on development are avoided and, if all goes well, the child can recover the lost functions. Unfortunately, in 50-60% of cases West's syndrome is resistant to treatment.

Source: telethon.it

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Civil disability for BRCA mutation carriers

The INPS, the association aBRCAdaBRA and the Italian Federation of Voluntary Associations in Oncology have reached a fundamental agreement for hundreds of people. Women with the BRCA gene can resort to preventative surgery, even if they are still healthy. From now on, they will be entitled to a percentage of civil disability.

In Italy there are 75-150 thousand people with BRCA mutations. This increases the risk of breast and ovarian cancer even under 30 years. To avoid it, you can do three things:

  • close periodic visits;
  • preventive chemo;
  • preventive mastoplasty.

For most women, specialist visits are more than enough. For high-risk subjects, on the other hand, partial or total removal of the breast is the only solution. The operation involves a permanent impairment, with a strong functional and psychological discomfort.

This is why the associations have asked for disability for women who face the operation, even if they are not cancer patients. It will be a percentage proportional to the severity of the disorder and equal to a "non-serious handicap". Thanks to the agreement, BRCA mutations will be protected even if cancer is not in place. This is the sign of a new awareness of genetic risk and the importance of prevention. Above all, he recognizes the impact of such a discovery on a woman's life, forced to revolutionize her body to protect herself.

Source: quotidianosanita.it

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The impact of obesity on assisted fertilization

Between 1975 and 2016, the rate of obese people tripled. It is estimated that there are around 1.9 billion obese adults in the world. In 2013-2014, approximately 66.9% of US women were overweight or obese. How is this associated with infertility and what effect does it have on the outcome of assisted fertilization?

A recent study analyzed the outcomes of in vitro fertilization (IVF) in women with different body mass. The researchers used data from 51,198 women who were undergoing the first fertilization cycle. To facilitate the analysis, they divided them into the following groups:

  • underweight;
  • normal weight;
  • overweight;
  • obese class I;
  • obese class II and III.

To get data as reliable as possible, they took into account factors such as age, ovarian reserve, the number of implanted embryos. It was found that overweight and obese women had a higher rate of cancellation of the fertilization cycle. In addition, obese women have produced less oocytes than just overweight or normal weight.

The number of embryos that can be used for IVF was also lower. According to the data analyzed, there was a lower rate of parts among obese women. Even underweight women have had a number of problems, however: the success rate of their fertilization cycles was equal to that of overweight women, therefore lower than normal-weight women.

Source: medscape.com

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