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Aurora magazine

The blog about the prenatal genetic of latest generation

Creutzfeldt-Jakob disease

is a form of human spongiform encephalopathy. His best-known form is the so-called "mad cow disease", which made headlines in the late '90s and early 2000s. 

In reality bovine spongiform encephalopathy is almost disappeared. Today 85% of cases are sporadic and explicable to 10% of a genetic. Creutzfeldt-Jakob disease has a long incubation period, completely with no symptoms. That makes it impossible to detect in time and is always fatal.

The disease causes a rapid degeneration of the central nervous system, but without causing inflammation or immune system reactions. The only obvious sign is an abnormal form of the prion protein, which accumulates in the cerebrospinal fluid and causes very characteristic lesions. This allows you to formulate a precise and definitive diagnosis, which unfortunately comes after the patient's death.

Creutzfeldt-Jakob disease occurs sporadically around 60 years, and within six months kills the patient. Despite causing dementia, mutism, visual difficulties, regular analyzes are normal. Electroencephalography may show periodic changes, while in 50% of cases the MRI showed abnormalities in the cerebral cortex. They do not know the causes for this form and the researchers found no genetic mutations.

10% of cases of Creutzfeldt-Jakob may be ascribed to the PrP gene mutation. It is the gene that is responsible for coding for the prion protein. When malfunctioning, the protein is more likely to accumulate and damage nerve cells, bringing them quickly to death. Currently lacks a way to diagnose the disease in the early stages when the symptoms become obvious, the course is quick and inevitably leads to death.

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Woman conceive at 24 years with eggs preserved at nine

A woman of 24 years Dubai has managed to have a child with ova stored at nine years. Today Moaza Al Matrooshi is the first woman to have conceived with ovum stored so soon.

The woman had become almost sterile due to a cancer of the blood that had struck her as a child. Chemotherapy had wiped out the tumor, however, and preventing it from damaging the reproductive organs to conceive for normal routes. His family, however, had taken steps to remove the right ovary, as well as to preserve the eggs. The left ovary was instead remained where it was, at least until a few years ago. Moaza was 22 years old when the left ovary has stopped functioning completely and she has entered menopause.

After entering into menopause, the woman turned to the Danish surgeons. Doctors have transplanted right ovary and uterus samples left ovary. The process resulted in a reversal of menopause and Moaza has begun to ovulate. Doctors have collected eight healthy and mature eggs, which have fertilized in vitro. The result is a healthy baby, born in London in late 2016.

The case of Moaza Al Matrooshi proof that it is possible to restore the fertility of a woman, even with ovaries removed at a young age. It is still a difficult task, because the organs are still very small and there is no margin of error. The procedure still offers new hope to many future women who, after winning the battle against cancer, will also decide whether to become mothers.

Source: sputniknews.com

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Vitamin D deficiency in pregnancy and autistic disease: is there a connection?

Several studies have already proven the importance of proper intake of vitamin D during pregnancy. The deficiency can lead to the development of malformations in the fetus, as well as diseases that sometimes manifest themselves only in adulthood.

An Australian study has found a link between vitamin D deficiency during pregnancy and autism. It seems that a vitamin deficiency in the first 20 weeks of gestation increases the risk of neurological damage in children.

Researchers at the Brain Institute at the University of Queensland, along with those of the Erasmus Medical Centre, analyzed the blood samples of 4200 mothers and their babies. They then separated the samples with less than 25 nmol / L of vitamin D, belonging to subjects with a deficiency of the substance. From observations it showed that a vitamin D deficiency in the mother is relatable to a higher rate of problems in neurological development. This means that, where necessary, it is advisable to take supplements that allow you to align the values ​​of vitamin D than normal.

Before this study, it was already known the role of vitamin D in the development of bones and nervous system. Beyond the diseases detectable with prenatal screening, more research they had connected the onset deficits of schizophrenia in predisposed individuals.

Source: lastampa.it

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Early diagnosis for Creutzfeldt-Jakob disease

An Italian-American team has developed a new method to diagnose Creutzfeldt-Jakob disease. It has an accuracy of 100% and is also useful for identifying other neurological diseases.

The test, in fact, is able to recognize also Alzheimer's and Parkinson's. A method to revolutionize the diagnostic criteria of these diseases, allowing to narrow down the times and facilitating the treatments.

Until now, Creutzfeldt-Jakob disease was identified only post mortem by autopsy. The new study provides an initial examination of the cerebrospinal fluid, which follows that of the olfactory mucosa. Doctors remove the mucosa using a nasal swab, painlessly and without the need for anesthesia. Then apply a laboratory test called Real Time Quaking-induced conversion, which requires very few cells. The test detects the presence or absence of altered proteins, index of Creutzfeldt-Jakob disease or other neurodegenerative disorders.

Creutzfeldt-Jakob disease has become famous as the "mad cow disease." The disease in question is however only one of the forms of the disease, inter alia virtually disappeared. The Italian and American researchers have instead developed the test for sporadic Creutzfeldt-Jakob. Creutzfeldt-Jakob disease is a genetic disease, whose causes are unknown and currently incurable. The study opens the door to a more precise diagnosis, which will facilitate the creation of new treatments. The next step will be the development of a gene therapy and maybe even a special method for prenatal diagnosis.

Source: repubblica.it

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