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Aurora magazine

The blog about the prenatal genetic of latest generation

Pesticides decrease the number of sperm

A Niels Skakkebaek study at the University of Copenhagen analyzes why the average sperm count is declining. According to Professor, pesticides reduce sperm count and double the risk of testicular cancer.

Over the last forty years, a collapse in male fertility has been occurring in the West. Increased cases of testicular cancer, with related consequences on the ability to conceive. Even for these reasons, more and more couples resort to in vitro fertilization.

The data speak clear: male fertility is decreasing and cancer cases are increasing. The change was too quick to blame genetic factors. Only environmental and lifestyle-related ones remain.

The Danish study points the finger against some pesticides very present in foods consumed daily. Modern life exposes the organism to various substances that damage the endocrine system. Even minimal exposures could have devastating consequences on the ability to conceive.

Part of the blame for the overall decrease in fertility would also be the consumption of sugars. A woman who drinks more than one sugary drink a day would have 16% less chance of getting pregnant after IVF. This last discovery comes to Harvard University.

Source: guardian.ng

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What is adrenoleucodistrophy?

Adrenoleukodystrophy is a rare genetic disease. The most common form is that linked to X chromosome and affects the nervous system. To date, the most effective therapy is the stem cell transplant of a healthy brother.

There are three forms of adrenoleucodistrophy.

  • The cerebral form. It strikes during childhood and the first symptoms include behavioral disorders and learning deficits. The child has difficulty read, write, understand what is said to him. With time it causes disturbances of sight, hearing, and movement.
  • Adrenomyeloneuropathy. It appears between 20 and 30 years with rigidity and weakness of the legs. Genital and urinary tract disorders are common, as well as neurological disorders. Many of those who suffer from it also manifest adrenal insufficiency.
  • Addison's disease. The first symptom with which it is manifested is adrenal insufficiency. It usually does not have neurological effects and may appear in both infancy and adult life.

X-linked adrenoleucodystrophy affects almost only children. Females are usually healthy carriers, although some people show symptoms similar to andrenomieloneuropathy. However, it is difficult to draw a clear picture, as the disease presents a high degree of clinical variability.

The first form of the disease is inherited. It is caused by a mutation of the X-ALD gene, which is in the X chromosome. However, there are cases of sporadic transmission, where the anomaly occurs for the first time in the patient. Diagnosis is by clinical observation, instrumental and laboratory examinations. If family cases are known, the genetic test for prenatal diagnosis is also available.

For the infant cerebral form, the most effective treatment is marrow transplantation. Transplantation is necessary in the early stages of the disease. Gene therapy may also be available in the future, but studies and trials are still ongoing. Unfortunately, there is no resolving therapy: it can improve the quality of life of the patient, but it does not cure it.

Source: telethon.it

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The crowdfunding helps children with rare genetic diseases

The Telethon Foundation has launched a crowdfunding to help families with children with rare genetic diseases. Within six weeks, the initiative raised 58,000 euros. The money will go to the "Come home" support program.

"Home like" is a support program for families with children affected by rare diseases. Every year, thousands of children from all over the world come to the San Raffaele Telethon Institute in Milan to undergo gene therapy. Parents and brothers accompany them, forced to leave home for long periods and to return to Milan regularly for checks.

The idea of ​​the initiative is to help these families from all over the world feel at home. The Telethon Foundation helps parents and children to settle down and build their own nest. This way, they can experience therapy with greater serenity and no side-effects. The serene climate and family proximity are also beneficial to the success of the treatments.

The campaign is called "Go Away" and started last September 11, ending on Sunday, October 15. Telethon has thus accompanied the children in their return to school, a significant step for those who suffer from rare genetic disease. It is in fact a moment in which fears and hopes for the future are met.

The organizers are proud of the results obtained with this first crowdfunding. He has shown that Italians are ready to support research in all ways, even with this tool.

Source: healthdesk.it

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There is a connection between lack of sleep and gestational diabetes

A research at the University of Illinois has revealed the link between lack of sleep and gestational diabetes. The researchers analyzed the data collected from eight previous studies, involving a total of 17,308 puerpers. It thus emerged that sleeping little increases the risk of developing the disease.

Seven eight studies were based on interviews in which women reported the duration of their sleep. The eighth used an accelerometer to measure the sleep-related parameters. All eight also reported any disturbance of the participants, such as gestational diabetes. The researchers also used data from four other studies. The latter measured the blood sugar levels and the duration of sleep in 287 women with diabetes.

Sleeping less than 6 hours per night increases the risk of diabetes by 1.7 times. Analyzes with the accelerometer are even more accurate. Women sleeping less than 6.25 hours a night suffer from diabetes 2.84 times more than sleeping more than 6.25 hours. In addition, they have a much higher blood sugar level in the bloodstream.

The consequences of the lack of sleep on health were already known. This is, however, the first study to objectively analyze the link between sleep, sugar levels and gestational diabetes. What emerges is that pregnant women should not only eat well but also sleep more.

Source: ctvnews.ca

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