Aurora magazine

Hypoidrotic ectodermal dysplasia (HED) is a rare genetic disease with a prevalence of about 1 / 15,000-17,000. It affects ectodermal development and causes malformations to skin, hair, teeth and sweat glands.

There are three variants of HED, almost impossible to distinguish clinically and all characterized by a sweating disorder.

• Christ-Siemens-Touraine syndrome. It includes 80% of cases and is linked to the X chromosome. It affects only the male births.
• Autosomal recessive HED (AR);
• Autosomal dominant HED (AD).

The characteristic symptom of hypohidrotic ectodermal dysplasia is the absence of sweat glands. This causes a very reduced sweating if not completely absent, leading to recurrent episodes of hyperthermia. The body is unable to regulate its temperature, which makes the person intolerant to heat. Some episodes of hyperthermia can even be lethal.

The other symptoms of HED are sparse or absent hair, lack of teeth and thin skin. Furthermore, many patients have chronic conjunctivitis, caused by reduced tearing. Other symptoms are nasopharyngeal dryness and a series of asthmatic episodes. Those who suffer from the disease often face rounded, thin eyelashes and eyebrows, wrinkles around the eyes.

The disease is caused by mutations in the genes responsible for ectodisplasin / NF-κB. In the case of CST, the affected gene is the one that encodes the ectodisplasin-A protein. The other two may also be caused by abnormalities in the gene that codes for the EDAR-associated death domain protein (EDARADD).

Current treatments are mostly symptomatic. Modern dentistry helps to restore the function of the teeth, also improving their appearance. Regarding the absence of sweating, those suffering from HED must avoid prolonged exposure to heat sources. In the case of very young children, doctors recommend the use of wet clothing. These measures guarantee a normal life expectancy.

Source: orpha.net

A team of researchers performed a treatment against hypohybrotic ectodermal dysplasia in utero. This is revealed by a study published in the New England Journal of Medicine.

The procedure could significantly improve the lives of those who have inherited this rare genetic disease. Treating the disease still in utero, in fact, would allow you to deal with the symptoms even before they appear. A notable advantage not only in the fight against hypohidrotic ectodermal dysplasia, but also in other diseases. According to Dr. Maisa Feghali, there are many congenital diseases that would benefit from such an approach.

Data from the National Institutes of Health report that 1 in 17,000 people in the world suffer from hypohidrotic ectodermal dysplasia (HED). Those who suffer can not produce the protein ectodisplasina A. This causes fall of teeth and hair, lack of sweat production and therefore propensity to heat stroke. It is a non-lethal disease, but it affects the quality of life in an important way.

The authors of the study carried out a series of preliminary tests on animal models. After these first successes, they moved on to clinical trials on humans. For the time being, they have tested the procedure on a pair of twins and on a third child. In all three cases, prenatal screening tests revealed the presence of the disease.

Twins received treatment twice, at the 26th week and at the 31st week of gestation. The third child received it only at the 26th week. Doctors suspect that the procedure may have anticipated the labor of the twins, who were born prematurely at the 33rd week. On the other hand, in utero treatment seems to have borne fruit in all three cases. At 22 weeks postpartum, none of the three children experienced typical symptoms of hypohidrotic ectodermal dysplasia.

The treatment aims at influencing the development of sweat glands already in the uterus. In theory, this would correct the error even before it manifests itself. Only time, however, will know if the treatment has been decisive.

Source: the-scientist.com

A large number of studies prove the usefulness of genetic tests in the fight against tumors and other diseases. A study by Dr. Forester could also introduce them into psychiatry. The doctor has in fact developed a genetic test that helps to choose the best antidepressant for each patient. The test examines dozens of genes involved in drug metabolism and predicts possible brain responses.

According to the study, the genetic test would be able to predict the effects of more than 50 antidepressants and antipsychotics. Based on these results it would be easier to understand which drugs to avoid and on which to bet. In this way you avoid avoiding the patient from an antidepressant to the other, with negative consequences also for the health.

For the time being, the test is still being tested in 60 US hospitals. Among the 1,167 patients involved in the trial, half took the genetic test and half did not. The results seem to be positive. The test allowed us to choose more effective drugs, with 30% more positive answers than those in the control group. However, the application of genetic tests to psychiatry has dark sides.

The brain is a complex organ. A single genetic test can help, but for now it can not be the definitive answer. Furthermore, it places the physician in front of a series of possible choices. It is up to him and his experience to understand which one is best for the patient. However, that of Dr. Forester remains an important step for precision psychiatry.

Source: wsj.com

For the first time, researchers have created artificial embryos without using gametes. Instead, they used mouse stem cells, modeled to create a structure similar to that of blastocysts. The study does not aim to replace natural conception. Rather, artificial embryos will help to better understand the causes of infertility.

The main author of the study is Nicolas Rivron, biologist and engineer at Maastricht University in the Netherlands. It was he who explained how they moved from stem cells to an embryo in the early stages of development.

The researchers used two types of stem cells: trophoblasts and embryonic stem cells. From the first comes the placenta and from the second comes the embryo itself. The scholars have succeeded in organizing these two types of stem cells, so that they formed a proto-embryo. At this point, they implanted everything in the belly of a guinea pig. The proto-embryo was implanted and continued with its development.

The procedure allowed researchers to observe the very early stages of embryonic development. Although at this stage many women do not know they are pregnant, what happens to them is essential for the correct implantation of the embryo. A minimal anomaly is enough to prevent the implantation. It is therefore important to understand as much as possible the dynamics that allow the embryo to develop properly.

What is the use of which anomalies prevent the system? For example, it serves to improve in vitro fertilization techniques, making them more effective and efficient. It also serves to identify anomalies that, if not addressed, could turn into diseases later in life. The possible applications of a study like this are very numerous and range from IVF to contraception.

Source: medicaldaily.com