Aurora magazine

The primary hyperoxaluria of type 1 is a genetic disease that affects the functions of metabolism. It causes the accumulation of calcium oxalate in the tissues, causing dysfunctions in different organs. Among the possible consequences there are optic atrophy, arrhythmias, neuropathy, fractures. Diagnosis usually occurs by means of urinalysis, which show high levels of calcium oxalate.

The oxalate deposition in the kidneys causes the formation of very painful kidney stones. The calculations are recurrent and cause urinary tract infections, as well as permanent damage. They are one of the first symptoms that manifests itself, usually before age 5. If not taken in time, it can lead to renal failure and affect the functionality of the kidneys in a definitive way. The most severe forms of hyperoxaluria affect not only the kidneys, but also the bones and the retina.

The risks for renal function make primary hyperoxaluria a disease with a high mortality rate. 50% of patients are likely to have a renal failure before age 15, 80% before 30. In addition, those who suffer often manifest crystallization in the bones, eyes and heart. This is why heart disease and related deaths are common.
The diagnosis of primary hyperoxaluria occurs by measuring calcium oxalate levels in the urine and blood. Genetic tests are also performed and, in the case of healthy carriers, prenatal diagnosis.

The only therapies available today include the administration of calcium salts and constant hydration. In this way the accumulation of oxalate in the tissues is reduced. In some cases, there is a combination of liver and kidney transplantation, especially in children. Unfortunately, only kidney transplantation is not able to correct the disease, which then reoccurs.

Source: corriere.it

An Australian research team has identified new genetic markers for glaucoma. The researchers involved over 134 thousand people from all over the world. Thanks to genetic analysis, they identified the anomalies that increase the risk of contracting the disease. Leading the international team was the Institute of Medical Research, University of Tasmania.

Scientists have identified 101 genetic markers, of which 85 unknown to date. The latter affect pressure in the eye, one of the reasons the disease develops. Thanks to the discovery, perhaps it will be possible to develop genetic tests for early diagnosis. In fact, today there are no ways to detect glaucoma in the very early stages.

Loss of peripheral vision is the first symptom of glaucoma, but appears only when the disease is already in an advanced stage. Dr. Alex Hewitt then led the present study, so as to make early diagnosis possible. According to the data collected, those who show genetic variants have 6 times the risk of developing the disease. There is more.

The treatments available today are aimed at reducing the pressure in the eye. The discovery of new genetic variants could offer alternatives, so as to develop new therapies. In addition, it would improve the diagnosis and offer the possibility to work on preventive treatments.

Source: ansa.it

A genetic test could identify individuals at high risk for osteoporosis and low bone mineral density (BMD). The researchers identified 899 genetic sites related to the problems, of which 613 were unknown. The discovery could support current diagnostic techniques, facilitating early diagnosis and prevention.

The study identified 1362 single nucleotide polymorphisms, located in 899 loci. Only 286 of these had already been identified, while 613 were completely new. Later, researchers entered data into a genetic algorithm. Combining data with weight, height, gender and age, the algorithm was able to predict the predisposition to osteoporosis with great precision.

In addition, the researchers identified 142,417 autosome genetic variants and linked to the X chromosome, related bone mineral density. The most important were in 4 loci - 385, 324, 336, 89 - all related to BMD. In particular, chromosome 7 of locus 385 contained 20 single nucleotide polymorphisms. All 20 were significant for osteoporosis and bone density.

Participants with low results in the analysis of the algorithm showed significant changes in BMD. Many of these have had osteoporosis problems, others of sudden rupture due to poor bone mineral density. Further studies could help develop new predictive genetic tests, reduce the incidence of the disease and facilitate prevention.

Source: rheumatologyadvisor.com

High levels of cortisol in pregnancy are related to a more anxious offspring and prone to depressive disorders. A study published in Biological Psychiatry analyzed the consequences of stress on a group of expectant mothers. High levels of cortisol would reinforce the communication channels between brain regions for the processing of feelings and sensations. The most obvious consequences were on the offspring of females, while the male ones did not show any consequences.

Doctors Alice Graham and Claudia Buss measured cortisol levels in 70 pregnant women. To have more reliable data, they repeated the operation several times during the first, second and third quarter. Furthermore, they took into account typical variations of pregnancy. Once babies were born, they immediately used magnetic resonance imaging to analyze neural connections. They repeated the analyzes after 2 years, analyzing their behavior.

High levels of cortisol were related to alterations in the brains of newborns. The young have shown consequences in the development of different brain regions and in the way they communicate with each other. The altered connectivity involved regions related to the processing of emotion, the amygdala. According to the study, the newborns showing these alterations were the same that 2 years later would show anxious and depressive symptoms.

The study is yet another proof of how maternal health affects the child's future conditions. Specifically, it shows that the predisposition to mental illness develops in the womb. In the case of cortisol, however, the consequences have only affected the brain activity of the girls.

Source: elsevier.com