Aurora magazine

Scientists from the University of Queensland have found a link between a DCC gene mutation, agenesis of the corpus callosum and congenital mirror movement. The discovery has shed new light on the nature of the disorders and their causes. It also opens the door to possible non-invasive prenatal diagnostic tests and the development of new treatments.

The corpus callosum agenesis is a congenital disorder that causes partial or total absence of the corpus callosum. There is talk of the lamina that connects the right and left brain, allowing communication between the two hemispheres. Sometimes the problem occurs together with congenital mirror movement, the other two disorders are presented separately.

Previous research has linked the DCC mutation in humans only to congenital mirror movement. The same mutation in mice, however, had been linked to one agenesis of the corpus callosum. Researchers then thought that the DCC gene had different functions in animals and in people. Scientists from the University of Queensland have analyzed the function of the gene and found that it does not.

The team found that the location of the mutation in the DCC gene is crucial. Depending on where you are located within the gene, only it causes the innate movement of the mirror or in combination with agenesis of the corpus callosum. It is the first genetic mutation on the brain area identified as possible consequences after all mild.

Source: uq.edu.au

Donepezil is a drug approved for the treatment of Alzheimer's, also used for mild cognitive impairment. A search of the UCLA School of Nursing, however, it shows the harmfulness for subjects with the genetic variant BChE-K. A discovery that shows the importance of genetic screening in the definition of the best treatment.

Mild cognitive impairment is a transitional state caused by age, similar to dementia. It has symptoms similar to those of Alzheimer's disease, which is why many doctors prescribe donepezil to treat. A 2005 study supported the treatment, but the Agency for Food and Medicines had never approved. A new analysis of 2005 data seems to agree Agency.

The researchers analyzed the data of 2005, looking for a correlation between genetic variant BChE-K and changes in cognitive function. They measured the cognitive impairment of individuals with two tests for dementia: the Mini-Mental State Examination and the Clinical Dementia Rating. Those with BChE-K treated with donepezil had worsened more than those who had taken the placebo.

The discovery proves the importance of genetic testing in order to provide personalized therapy. In the future you may use the prenatal screening test to identify possible future problems, so as to intervene in time and in the best way.

Source: newsroom.ucla.edu

With the transition from summer to winter the days get longer, but you lose an hour of sleep. A study from Boston University suggests that the time change increases the risk of miscarriage. A risk much more pronounced in women who have had recourse to in vitro fertilization.

The researchers analyzed the results of in vitro fertilization throughout the year. In particular, they compared those performed close to the time change with those that occurred in other periods. Among women who have resorted to IVF during the 21 days before the time change, 23.4% suffered a miscarriage. In the rest of the year the percentage is 10.2%. This suggests that there is some correlation, but the reasons are not yet clear.

It is the first research that examines the effects of the time change on the outcome of a pregnancy. Nevertheless, there are other studies that examine the health effects of the daylight saving. For example, according to the American Academy of Neurology stroke risk increases by 2% in the days following the time change. It is assumed that the fault is the shift of the circadian rhythm, what is commonly called "biological clock."

The time change could have detrimental effects not limited to the outcome of IVF or the risk of stroke. A study at the University of Maryland, in fact, suggests a link with the onset of migraines. The cause may be in a cluster of nerves in the hypothalamus responsible for melatonin, the sleep hormone, and biological rhythms.

Source: medicaldaily.com

A miscarriage can have many causes. One of these may be a general inflammation, often imperceptible. That's because one of the Eunice Kennedy Shriver National Institute study argues that the fight aspirin many miscarriages. A quarter of a daily aspirin help to conceive and carry the pregnancy to term, at least in case of inflammation.

A general inflammatory state may be ascribed to several causes reproductive dysfunction. These include pelvic inflammatory disease, polycystic ovary syndrome and endometriosis. All conditions that make it difficult to conceive and more likely to run into miscarriages. The Maryland researchers have therefore studied the effects dell'antinfiammatorio par excellence on abortion rates.

The study involved 1,228 women between 18 and 40 years, all with at least one miscarriage behind. The doctors measured their levels of protein C in the blood, the protein index of inflammation in course. Depending on the results, they divided among subjects with low levels of protein C, medium and high.

The researchers administered to half of women 81 mg of aspirin daily, from preconception and for 6 cycles. In case of conception, they have continued with the treatment for 36 weeks of gestation. The other served as the control group and were given a placebo.

Among women in the control group with high levels of protein C, only 44% have conceived and given birth. Among those with the same levels who received aspirin, however, the percentage is 59%. Women with low levels of protein C and intermediates have not received any benefit from taking the drug or not.

The study shows that the protein C test might make the difference for many women with problems conceiving. It could thus become one of the many routine prenatal screening test.

Source: quotidianosanita.it