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Aurora magazine

The blog about the prenatal genetic of latest generation

Two uteruses for the same pregnancy

Bliss and Ashleigh Coulter are an American couple living in North Texas. Five months ago they gave birth to the little Stetson, who spent the gestation in the womb before Bliss and then Ashleigh. This means that both women have carried on the same pregnancy, thanks to a type of in vitro fertilization called Reciprocal Effortless Ivf.

Reciprocal Effortless Ivf combines embryo transfer with Effortless Ivf, in which the woman acts as a natural incubator. The combination of the two procedures is less simple than it seems and has a low success rate. Nevertheless, the two women managed to complete the pregnancy.

Bliss, 37, has undergone hormonal stimulation. The doctors took the eggs and inserted them together with the sperm into a device called InvoCell. Then they inserted the capsule into the woman's vagina, at the level of the cervix. In the traditional IVF all this takes place in the laboratory, with higher costs. The warm and favorable environment of the body of Bliss has favored the development of the blastociti, remained inside of her for 5 days.

Later, the doctors froze the blastocysts and waited for the Ashleigh uterus to be ready to receive them. After a few days they made the plant, which was completely successful. The pregnancy went well and the baby was born on terms, perfectly healthy.

The case is unique, at least for the moment. Usually the woman who brings InvoCell is also the one who carries out the pregnancy: it is the first time that the practice is accompanied by embryo transfer.

Source: wired.it

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Multiple pregnancies reduce the risk of breast cancer

The number of pregnancies and the age they have had influence the risk of breast cancer. Several researches have tried it, even if there are no precise explanations about it. A study on Norwegian and Danish women could clarify some points in this regard. According to the study, multiple pregnancies of 33-34 weeks reduce the risk of breast cancer.

Mads Melbye's team at the Statens Serum Institute analyzed data from 2.3 million Danish women and 1.6 million Norwegian women. Researchers looked for the long-term effects of pregnancies by monitoring breast cancer cases that occurred at least 10 years after delivery. They found a link between the risk of breast cancer and the duration of pregnancy.

In women who had a gestation of 33 weeks or less, the risk of cancer was 2.4% lower. In those with a gestation of 34 weeks and more, the risk was 163.6% lower. The risk dropped by 16.9% in those who had arrived beyond the 34th week of the second gestation. Indeed, it fell by 37.7% in women to the third pregnancy. It seems therefore that carrying out many pregnancies considerably reduces the chances of getting sick.

After the 34th week of gestation there seems to be no further benefit. Likewise, there is no evidence for or against breastfeeding. In addition, study leader Melbye points out that data also takes socio-economic factors into account. Despite these, it seems clear that the number of pregnancies carried over the 34th week significantly influences the risk of cancer.

The discovery could help to better understand the hormonal and cellular changes that occur in the last week of gestation.

Source: newscientist.com

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Identified key molecule in the regulation of the immune response

An international team studied a molecule called TIM-3, which could play a key role in regulating immune responses. The study was conducted by scientists at McGill University Health Center (RI-MUHC), Montreal Children's Hospital and McGill University. In collaboration with colleagues from the Université Paris-Descartes and the Image Institute, they isolated this protein. Thanks to further studies, it could become a new target for treatments against cancers and other diseases.

When the TIM-3 protein is suppressed or inactive, the T lymphocytes become uncontrollable. This results in a rare form of lymphoma called a panniculite-like subcutaneous T-cell lymphoma. The team identified the two mutations that act on the TIM-3 protein, preventing it from attacking cancer cells.

The study is based on a previous work, in which scientists had detected the same form of lymphoma in two siblings. After sequencing the genomes, they found that both patients were carriers of the same mutation. The variant involved the HAVCR2 gene, which encodes the TIM-3 protein and is transmissible from the parents. It was thought that it was common especially in Asia, but further studies have denied it.

The study also found that this form of lymphoma is far more common than previously believed. Both responsible mutations are found in Asian, Australian and Polynesian individuals, as well as Europeans. Scientists have found similar cases in patients with Tyr82Cys and Ile97Met mutations, both on the same gene and in both European and Polynesian patients.

Source: medicalxpress.com

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Lysosomal storage diseases: causes and symptoms

The group of lysosomal storage diseases includes about 50 pathologies. They are all united by an alteration in the functions of lysosomes, the organelles that should degrade the waste of cellular metabolism. Usually, these alterations are caused by a deficit of the enzymes that regulate its activity. This leads to the accumulation of waste substances inside the lysosomes, damaging the tissues.

Lysosomal storage diseases are systemic, thus affecting multiple organs together. Most of these manifest with the following symptoms:

  • enlarged liver and spleen;
  • damaged central nervous system;
  • altered neurological functions;
  • eye problems;
  • heart disorders;
  • muscular disorders.

The age at which the first symptoms occur may vary, but usually occurs in the pediatric age. Diagnosis starts from clinical observation, followed by laboratory tests and enzyme dosage. In couples of healthy carriers, prenatal diagnosis is possible. In fact, if both are carriers, there is a 25% probability that the child will show the disease. In Fabry's disease and in mucopolysaccharidosis type 2, only males can get sick.

Available therapies vary greatly depending on the specific disease, but for now there is no cure. Among the available therapies are enzyme replacement, bone marrow transplantation and pharmacological treatment to degrade waste substances.

Source: telethon.it

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