Aurora magazine

Only 13% of the medically assisted procreation cycles (PMA) conclude successfully. The reasons are many, among which there could also be both male and female infections. A timely diagnosis and treatment could however overturn the outcome of the procedures. This is why a team of experts recommends a preventive microbiological diagnosis to infertile couples.

According to Amcli (Association of Italian clinical microbiologists), diagnosing and treating infections would allow many to overcome their infertility. In some cases with the further aid of assisted fertilization, in others even with natural conception.

The main causes of failure of PMA are:

• old age;
• chromosomal alterations and other genetic causes;
• sexually transmitted diseases;
• infections of the genital apparatus.

However, a 15% of cases remain in which the causes of the failure are unknown.

What makes dangerous infections is often a deficiency or lack of symptoms. The subjects are not aware of their presence, so they are not taken into consideration as a possible cause of infertility. This is why microbiological diagnostics is still very much neglected in the process that precedes PMA. This does not happen with other causes, such as age or even genetic abnormalities. However, there is a further problem.

Women are used to undergoing a large number of gynecological investigations. This does not apply to men, who tend to be more wary of both the andrological visits and microbiological examinations. Yet both things could facilitate PMA, if not even help to avoid it altogether.

Source: corriere.it

Batten's disease is part of juvenile neuronal ceroidolipofuscinoses, which in turn form part of ceroidolipofuscinosis. It is a group of very heterogeneous diseases from the genetic point of view, which occur in school age. They are prevalent in the Scandinavian countries and only in Finland the incidence is 1 in every 21,000 births. In the United States, on the other hand, about 2-4 cases are estimated for every 100,000 newborns.

Batten's disease is the most common form of juvenile neuronal ceroidolipofuscinosis. It occurs around 6 years with a progressive deterioration of vision. For the rest, the child seems healthy. Blindness occurs within a few years, followed by cognitive decline and early symptoms of epilepsy. With time appear dementia and increasingly serious motor disorders, in some cases accompanied by aggressive behavior.

Juvenile neuronal ceroidolipofuscinoses are transmitted in an autosomal recessive manner. In the case of CLN9, the phenotype is known - identical to the Batten disease - but not the gene that causes it. Diagnosis is made by enzymatic testing and clinical observation, including the infiltrated lymphocytes of vacuoles. Molecular testing is used to confirm the diagnosis.

Unfortunately, for the moment there are only symptomatic treatments and lack of resolving therapies. There are palliative treatments that involve the administration of anticonvulsant drugs, but also psychiatric and psychological interventions. Life expectancy is variable, depending on the type of illness. In the case of the Batten disease, it is around 30 years old.

Source: orpha.net

Precision medicine takes a new step forward thanks to the UK Biobank, one of the most important DNA banks in Europe. Inside there are genome data of 500 thousand people, made available for biomedical research. Thanks to them, the geneticist Giuseppe Novelli's team has shed new light on some of the most common genetic-based diseases. In the future, the findings made could help identify those at risk of cancer, diabetes and cardiovascular disease.

The team at the University of Rome Tor Vergata made use of DNA samples and more. Between 2006 and 2010, researchers also collected urine and plasma samples of volunteers aged between 40 and 69 years. Combined with data on the genome, they have facilitated the division of the population into different layers.

In this way they were able to identify the population groups most at risk of diabetes, heart attack and other diseases. All different diseases, for which effective screening is lacking worldwide.

Until today, studies linking DNA and phenotype of the person were conducted only on small groups. Furthermore, they mainly concerned individuals suffering from genetic diseases or particular conditions. The two studies in question are the first that involve such a large number of volunteers and that affects everyone.

Researchers have succeeded in identifying approximately 96 million genetic markers linked to widespread diseases. They have multiplied the number of information related to them a hundredfold.

One of the two studies focused on the genome of 8,428 people and on the magnetic resonance of 10,000 people. Combining the data, the researchers looked for genetic variants that can be linked to the genesis of some neurodegenerative diseases. For the first time they combined brain maps, DNA and magnetic resonance imaging. All in order to find new prevention and screening systems.

The study is still ongoing. In the next three years, researchers will add data from the magnetic resonance imaging of another 70,000 people. They intend to study the development and aging of the brain, in addition to the consequences of diseases.

Source: ansa.it

Lysosomal storage diseases are among the less known rare genetic diseases. Doctors often attribute symptoms to more known diseases, delaying the diagnosis. A new program, The Lantern Project, aims to solve this problem. The project will offer genetic tests for the diagnosis of lysosomal storage diseases, such as Fabry's syndrome or Gaucher's disease.

It is estimated that there are about 10,000 cases of undiagnosed lysosomal storage diseases. Sometimes, the diagnosis requires years and exhausting pilgrimages from one doctor to another. For Fabry's disease, the average diagnosis period is around 15 years. Among the reasons is the inability to access comprehensive diagnostic tests, which also include the genetic aspect. The Lantern Project aims to address this problem.

The aim of the project is to facilitate the diagnosis for the many US doctors and patients. In particular, the project will focus on those who fear suffering from the disease of Gaucher, Pompe, Niemann-Pick and Fabry. In addition to genetic testing, tests for enzyme levels and tests for some muscular dystrophies will be available.

The project focuses on the possibilities offered by next-generation sequencing technology. The new method is in fact faster and cheaper than the previous ones, since it allows to analyze several genes at the same time. As a result, it is possible to test each patient for various lysosomal storage diseases in a short time.

Source: fabrydiseasenews.com