Aurora magazine

Doctors discovered symptoms of senile dementia in two 6 and 10-year-old English girls. The first case occurred in 2000, but the parents only made it public recently.

Emily and Sarah Bushaway have developed Type C Niemann-Pick Disease. This is a rare genetic disease, often known as infantile Alzheimer's. Afflicts only 100 people around the world, is deadly and unmanaged. Those who suffer from it progressively lose muscle tone and develop lung diseases. It is also characterized by the gradual decline of intellectual functions, which results in dementia.

The first diagnosis was touched by Emily, who at the time was only six years old. The little girl had begun to repeat and was struggling to remember the names of the girlfriends. The doctors initially spoke of distraction of attention. After some time, the neurologists of the Great Ormond Street Hospital in London had given a much worse response.

After seven years, doctors diagnosed the same illness as Sarah's sister, 10 years old. Both girls lost motor, language and cognitive functions. Parents Mark and Lisa have devoted soul and body to their two daughters, promoting campaigns for research.

Emily died in 2016 at age 21 in a nursing home in Oxford after an error in intubation procedures. Sarah's sister is 19 years old and still a few years old.
Bushaway spouses are both carriers of the recessive gene of the disease. Promote initiatives to raise public awareness. Hope is that research will move forward both for prenatal diagnosis and for the treatment of this disease.

Source: independent.co.uk

The Welsh government plans to introduce non-invasive prenatal screening from 2018. The decision comes after a similar provision by the English Government. Minister of Public Health Rebecca Evans assures that all future mothers will receive the information they need.

For the time being, the prenatal screening test will be applicable to Down syndrome only. It will help locate any traces of chromosomal anomalies, but especially to reduce the risk of abortion. Traditional tests, in fact, are effective but also invasive. In the amniocentesis a needle is used to extract amniotic fluid, sometimes risky operation. Non-existent risk with non-invasive screening texts, which use a sample of maternal blood.

New tests will be offered to future Welsh mothers who are more likely to give birth to a sick child. If the non-invasive test is to be positive, only then it will be advisable for them to undergo amnesia. This will also reduce the risk of false positives, with further benefits for screening accuracy.

Julian Hallett, of the Down Syndrome Association in Wales, claims that health professionals will need to be formed. They will have to enable women to evaluate the test results so that they can make the best decision for them.

Source: bbc site

Yale's researchers compared the physical response of some women in IVF treatment. They asked the participants to report the reasons why they were undergoing hormone cycles. There is thus a correlation between the reasons for IVF and body response.

The researchers followed 50 women in preparation for in vitro fertilization and 62 egg donors. They asked them to describe the experience and the level of fatigue that he was doing. The pharmacological treatment was the same for all, yet donors have lived it less intense. This means that women's motives influence how it will react to the hormone cycle.

To make the analyzes more accurate, the researchers went beyond measuring only physical pain. Instead, they applied a special statistical method to take into account stress and cognitive deficits as well. They have thus proven that different emotions and expectations lead to different levels of physical fatigue.

A woman who is investing health and money in looking for a child will react differently to those who are giving their own eggs. Women who sell their gametes - legal practice in the United States - will in any case receive the desired reward. This is not said in the case of who is looking for a son. For the same reason, the analyzes revealed differences between those who were undergoing IVF cycle and those who were already in the second.

Source: yale.edu

There are many discussions about using cannabis for both medical use and recreational use. A large number of studies have proven its effectiveness in the treatment of certain diseases. A 2014 study by the Hawaii Journal of Medicine and Public Health would, however, want to clear the use even during pregnancy. It would be a good idea?

According to the study, the assumption of pregnancy therapy cannabis would combat morning sickness. It could be a valid alternative to prescribed medications, at least in the most serious cases. The search for 2014 also shows a marked reduction in anxiety and other gestational discomfort.
When stressed, the brain struggles to produce some useful substances for the maintenance of psychological health. This also occurs during pregnancy, causing anxiety and depression in many future mothers. Buffalo University scientists have discovered that cannabis contains some of the substances useful for mental health. At what price, though?

Despite the many benefits of cannabis, pregnancy intake may also pose a risk to the fetus. Dr. Shayna Conner's team is conducting a study to determine the effects of prenatal exposure to cannabis. For the time being, there seems to be no correlation between use of marijuana and damage to the fetus. On the other hand, previous studies had indicated delays in development in cannabis children.

Before replacing drugs against nausea with marijuana, many studies will still be needed.

Source: huffingtonpost.com