Syndactyly: scientists discover that skin cells play a role

A new study conducted by researchers at the University of California focused on syndactyly, a congenital malformation that sees children born with two or more fused fingers, both in the hands and feet.
The malformation is due to insufficient removal of connective tissue when the embryo is developing.

The new study, published in Developmental Cell, shows that the skin also plays an active role. Explaining the results of the study is Ghaidaa Kashgari, researcher at the Department of Biological Chemistry of the UCI School of Medicine: “Our study identifies the epidermal development processes necessary for the separation of fingers that expand beyond the insufficient removal of connective tissue. These additional factors play a key role in syndactyly and may be implicated in other complex syndromes, including Van der Woude syndrome. Epithelial migration and non-adhesive peridermis are necessary for the separation of digits during mammalian development”.

As Bogi Andersen, professor of medicine and biological chemistry and other author of the study, explains, the GRHL3 gene is responsible for normal finger separation. If there is a mutation affecting this gene, the function of cells on the surface of the skin can be impaired causing conditions such as Van der Woude syndrome related to syndactyly.

Pregnancy hyperemesis associated with increased risk of autism in children, according to a new study

According to a study by the American Journal of Perinatology, pregnant women with hyperemia during pregnancy may have a 53% higher risk of having a child with an acoustic spectrum disorder.

The study, funded by the American institute Kaiser Permanente, is important, according to the principal author, Darius Getaun, because through this association we can better diagnose children at risk of autism and conduct early interventions.

Hyperthermia during pregnancy is a severe form of morning sickness that occurs in about 5% of pregnancies. Usually, women suffering from it cannot contain any food or liquid, which can cause severe dehydration, as well as insufficient or insufficient nutrition during the same pregnancy.

Researchers have found this link by analyzing the health records of nearly 500,000 pregnant women and their babies born between 1991 and 2014. They focused in particular on women suffering from hyperemia during pregnancy and compared their children’s pathologies with those that did not cause such severe nausea in mothers.

Researchers noted that children of mothers with hyperemia during pregnancy were at greater risk of autism when the same hyperemia was diagnosed in the first or second trimester of pregnancy, but not when it was diagnosed in the third trimester.

Researchers also noted that the association is stronger in female daughters than in male sons and stronger in whites and Hispanics than in blacks. The same researchers, as indicated in the press release (see first link below), exclude links between drugs used to control hyperemia during pregnancy and the same risk of autism.

This is an observational study that cannot identify the immediate cause, and therefore other studies should be conducted to examine the causes of this association. There may be other explanations, even if the researchers themselves suspect that women who suffer from hyperemia during pregnancy are more likely to suffer from poor nutrition, which in turn may harm the neurological development of children.


According to a new study, even fathers must give up alcohol at least six months before conception

According to a new study by the European Journal of Preventive Cardiology, men who want to have a child should avoid drinking alcohol at least six months before conception.

Drinking alcohol during pregnancy is highly undesirable for women, and numerous studies have been conducted to this end. However, the same has never been analyzed in detail for men because any consequences for the child are objectively less obvious and clear.

However, as Jiabi Qin, a researcher at Changsha Central South University in China, points out, drinking alcohol before conception, even a few months earlier, represents a “high risk and dangerous behavior.” In the researcher’s view, alcohol can actually increase the risk of heart defects in an unborn child, apart from the harm that the same alcohol can cause to the health of the father.

In the researcher’s opinion, men should not drink alcohol at least six months before conception, and women should refrain from drinking it for a year before conception and during pregnancy.
Alcohol is considered teratogenic; it may cause abnormalities or deformations in the human embryo. For example, it is associated with fetal alcohol spectrum disorder (FASD), which can lead to congenital heart disease.

This study used data from 55 other studies concerning 41,747 children with congenital heart disease and 297,587 children without it. The researchers noted a gradual increase in the risk of congenital heart disease in children associated with increased alcohol consumption by parents.

Qin himself acknowledges that further research is needed to better understand the relationship between parental alcohol and heart disease in children, but in any case, the advice to stop drinking alcohol before conception remains valid.

Lead levels in the blood during pregnancy that are too high can cause obesity in the child

Lead levels that are too high in the blood may be associated with increased chances of pregnant women having children who may be overweight or obese in childhood, according to a study published in the public domain of the JAMA network.

A team of researchers led by Xiaobin Wang, a researcher at the Johns Hopkins Bloomberg Baltimore School of Public Health, used data from 1,442 women and their children. Blood was taken from these women and lead levels were analyzed 24-72 hours after birth.

The children are then periodically analyzed for weight in childhood. When they were 8.1 years old on average, children born to mothers with higher levels of lead in their blood were four times more likely to be overweight or obese.

This risk was reduced if the same women with high levels of lead in their blood showed sufficient folic acid, again for the blood taken 24-72 hours after birth. According to researchers, folic acid can be useful for pregnant women who have too high levels of lead in their blood.


Cannabidiol gel reduces seizures in children

Cannabidiol gel can be useful as a contrast weapon to reduce the incidence of seizures in children with severe epilepsy, according to a new study conducted by researchers from the University of Otago, New Zealand, and the University of Melbourne, Australia.

This gel can be applied to the skin as a transdermal agent and can reduce seizures in children with severe epilepsy. This is what the researchers saw during the trials, when they noticed a 58% reduction in the number of seizures between the second and sixth month of treatment.

These experiments were conducted in Wellington and Melbourne in 48 children suffering from development and epileptic encephalopathy. Lynette Sadler, one of the researchers involved in these studies, clearly recognizes that this new product “gives new hope” to all children and adolescents suffering from severe seizures.

According to the researcher, treatment with cannabidiol gel not only reduced the number of epileptic seizures, but also improved behavioral and cognitive symptoms in children. This is also well-tolerated.


Epilepsy: new test reveals “dishonest brain waves”

A new test, which detects “unauthorized brain waves,” can help people with epilepsy to better understand which area of the patient’s brain they need surgery in.

The test was developed by a team of researchers from the Aston Institute of Photonic Technologies (Aston Institute of Photonic Technologies), a department of Aston University. The test can help to determine in advance and with a certain degree of precision which brain area is the epileptogenic zone, i.e. one that causes an epileptic attack.

The special technique used by Aston researchers uses magnetoencephalograms to study brain waves to intercept abnormal electrical discharges in patients with epilepsy and to determine the areas of the brain that cause seizures.

Among the convulsions, there are actually short episodes of brain activity in the form of electrical discharges or “peaks”. A better understanding of these “peaks” can help surgeons understand where to operate better.

The results have been published in the Journal of Neuroscience.


A new drug to prevent heart damage after a stroke has been developed by researchers

In a press release from the University of Guelph, a drug developed by a team of researchers led by Professor Tami Martino and student Christine Reitz was defined as a “potential drug for the treatment of heart attacks” and as a weapon to combat heart failure.

The researchers have actually discovered a possible new pharmacological target, which underlies the recovery processes carried out by the body after a heart attack. Heart attacks can, in fact, cause an inflammatory reaction that can lead to heart damage. This damage can lead to the development of heart failure, for which there is currently no cure.

The drug, called SR9009, targets a key component of the circadian cellular mechanism, interrupting the expression of those genes that trigger an immune response after a heart attack that may be negative in the long term.

The potential drug already tested on mice should be taken a few hours after the attack. Once this is done, patients can avoid taking heart medication for the rest of their lives, which can be exhausting in many cases.

Martino speaks for herself about “exciting” research and a drug that does not seem to be able to harm the heart as a result of a heart attack: “People can survive a heart attack because the heart won’t even be damaged,” says Martino in a press release.


New contact lenses give medication for days, even at the back of the retina.

A new step forward has been taken with regard to contact lenses that can release medication, which is a very promising alternative that can replace the discomfort of daily eye drops.

A team of researchers from Massachusetts Children’s Eye and Ear Hospital and Boston Children’s Hospital have developed contact lenses that can vaccinate medications even in the back of the retina, which is the most difficult to access but still needs treatment in the context of various retinal diseases.

Currently, eye injections or implants are used to treat this internal area of the retina – two methods which, unfortunately, have side effects. Furthermore, the patient’s fear of the needle should never be underestimated.

The new contact lenses presented in the biomaterials study have already been tested by researchers who used them to deliver the dexamethasone steroid used in inflammation to the back of some animals.

In these tests, the lenses showed that they could safely ensure prolonged retinal administration for a week with the same degree of efficacy as eye injections. Now the researchers hope to conduct the first tests in humans.