Aurora magazine

It is thought that high fever in the first trimester of pregnancy may cause serious birth defects in the child. Dr. Sass's team checked this link, focusing on the cases of Danish mothers and children.

Fever is a typical reaction of the body to ongoing infections. The organism increases the temperature in order to eliminate invading bacteria. However, it can also cause the destruction of some cell membranes and damage the placenta in a more or less serious way. In some cases this causes congenital malformations to arise in the child.

The Danish research team studied data from 77,344 pregnant women, some of whom were affected by fever during pregnancy. They focused in particular on the episodes occurred in the first quarter. They then examined whether there were cases of malformations in the first three and a half years of a child's life.

Scientists detected a total of 8,321 women affected by fever in the first trimester and 876 children with malformations. According to the study, however, there would be no certain link between fever and malformations. It is true that the fever in the first trimester would have been associated with a higher rate of malformations on the face and neck. However, it would also be associated with a lower risk of malformations of the nervous system, urinary tract and respiratory system.

Fever in pregnancy does not seem to be related to major malformations. On the other hand, it is possible that the most serious malformations are not found in the data, since they were concluded with a spontaneous abortion.

Source: medicalnewsbulletin.com

Mutations in the p63 protein cause a large number of diseases. The most serious is Hay-Wells syndrome. The scientists of Goethe University and Federico II of Naples have discovered new details on the genetic cause of the disease. It seems that the syndrome is much more similar to Alzheimer's and Parkinson's than to other syndrome related to p63. The discovery could help develop new possible treatments.

The p53 protein has the task of suppressing any tumors. Its malfunction is one of the first stages of cancer development. It is also the cause of a series of syndromes characterized by defects in embryonic development. The transcription factor p63, on the other hand, regulates the development and proliferation of stem cells. Some of its mutations lead to very serious diseases, including Hay-Wells syndrome.

The roots of the Hay-Wells syndrome reside in two domains of the p63 protein, completely unrelated to those related to other diseases originating from p63. These domains are a platform for protein interactions. For a long time it was therefore assumed that the problem was in the loss of these interactions. In reality it is not like that.

The mutations inside p63 expose the sequences of hydrophobic amino acids and push them to bind to each other. In this way a large complex without a structure is formed, which causes the loss of the functions of p63. Aggregates are similar to those that cause other diseases, such as Parkinson's and Alzheimer's.

Source: goethe-university-frankfurt.de

Researchers at the Murdoch Children's Research Institute (MCRI) carried out a study on the relationship between expectant mothers and prenatal screening tests. Specifically, they examined how much information they would like to receive these women and what kind. An option that is not available to date.

The most used method for non-invasive prenatal screening is fetal DNA analysis. Doctors use a sample of maternal blood to isolate shreds of DNA from the fetus. In this way they can detect any variations inside it related to a disease. The method is especially useful for conditions linked to a certain genetic cause, such as trisomies. For other conditions, however, the genetic causes and therefore the diagnosis are still uncertain.

The study in question asked 111 pregnant women if they could have wanted to know all the details of a prenatal screening. These would include both the 99.9% secure outcomes available today and all genetic abnormalities whose meaning is not yet known.

The participants talked to a consultant, who gave them all the information about the genetic tests. The consultant then proposed two options: to receive only reliable and relevant information for the child's health; receive all the information. None of the children showed visible abnormalities with ultrasound.

About 60% of women decided to receive all the genetic test information. The decision does not seem to have caused any adverse effects from the psychological point of view. However, he highlighted the importance of turning to a geneticist, who explains the outcome of all the results.

Source: medicalxpress.com

Evelyn Telfer has been studying the machine of human reproduction for over 30 years and has achieved an unprecedented result. Together with her team she was able to isolate oocytes from fresh ovarian tissue to grow them in the laboratory in different substrates, reaching the right degree of maturation to be ready for fertilization, thus giving a great chance of pregnancy even to women who recover from a tumor.
The results of this extraordinary study were published in "Molecular Human Reproduction".

This discovery is a new step in the study to preserve the fertility of women with cancer, who face a chemotherapy that can damage the ovaries. To date, before treatment, patients can undergo an egg retrieval, which are then frozen and used after healing, with assisted reproduction techniques (PMA). The alternative, even if still considered experimental, is to take a piece of ovarian tissue. In order to re-implant it, however, as Eleonora Porcu, head of the Center for Infertility and Medically Assisted Procreation of the S. Orsola-Maalpighi Polyclinic Hospital in Bologna, has underlined, further invasive surgery is required. In addition, the ovary does not always start functioning again and you could also have the risk, by replanting the tissue, to reintroduce the cancer, if cancer cells were present. By taking the oocytes to grow in vain, however, the risk of cancer drops dramatically.

This is a great achievement, since before this moment no one had ever succeeded in obtaining mature oocytes from a human being in the laboratory (only from mice and sheep).

Eleonora Porcu added that this is a big step forward, but to which many questions shared by the researchers are still associated.
The ovarian tissue used was fresh. But what happens if you freeze as you usually do? Furthermore, the percentage of oocytes reaching the fertilization stage is very low and there are several anomalies. The authors of the study wrote that they have noticed in some oocytes a large polar cell, which indicates an anomaly. Oocytes of the genus, usually, in the Pma are discarded, as they can transmit these possible anomalies to the embryo.

The study, therefore, is still experimental and for this Eleonora Porcu is keen to not give too many false hopes, despite the great progress made at the time. It is about giving some more possibilities to patients who have recovered from a tumor, but it is not yet at the points to solve the problems of infertility.

Lorenzo D'Avack, bioethicist and vicar president of the National Bioethics Committee, interviewed by ANSA, defines this discovery, if it is aimed at human procreation, condemnable and scientifically dangerous. Furthermore, it considers unacceptable the possible use of oocytes developed in the laboratory for the purpose of treating diseases.

Cristina Eguizabal Argaiz, on behalf of the Esre (European Society for Human Reproduction and Embryology) explained on Repubblica that it is a very interesting discovery but invites caution, as a fabric of young women has been used (30 years) and not older women or with infertility problems, so you can not know at the moment if it can be effective even in these cases. It is necessary to continue with new studies to demonstrate the functionality of the oocytes.

Source:
repubblica.it