Aurora magazine

Lamellar ichthyosis is a genetic disease that manifests itself at birth. The baby's skin is wrapped in a transparent membrane, which breaks and falls within 10-14 days. Before this time, the membrane hinders breathing and causes abnormalities in the eyelids and lips. Its fall, on the other hand, causes loss of fluids, risk of infections, difficulty in regulating body temperature. Later, the skin thickens and forms scales.

The scales are concentrated mainly at the joints. In some cases, hair and nail changes also occur. Beyond the psychological and physical discomfort caused by the symptoms, however, there are no real physical dangers for those who suffer from it. The subjects do not have available treatment cures, but can resort to symptomatic treatments. Retinoids and emollients soften the skin, while the keratolytic ones remove the scales.

Lamellar ichthyosis is caused by a mutation of the TGM1 gene and is transmitted in an autosomal recessive manner. In order for it to occur, both parents must be healthy carriers and transmit the anomaly to the child. However, cases of ichthyosis with autosomal dominant transmission have been reported, in which a sick parent has transmitted the disease. In the latter case, there is a 50% chance that a child will show the disease.

Lamellar ichthyosis is diagnosed by observation of symptoms, also evident at the time of delivery. Afterwards, doctors perform a skin biopsy to confirm the diagnosis.

Source: telethon.it

A study by The Mount Sinai Hospital and Mount Sinai School of Medicine in New York traces the first genetic map of the polycystic ovary. Scientists isolated 14 mutated genes common to patients with the disease. The discovery could make it easier to develop new treatments, especially for the most serious cases.

Polycystic ovary is an endocrine-metabolic disorder that affects about 7-10% of young women. Often causes a decline in fertility, especially in the most pronounced forms. The characteristic symptoms are: irregularities in the menstrual cycle; ovulation reduced or absent; excessive production of male hormones; acne.

The researchers involved about 100,000 women with polycystic ovarian syndrome. For the control group, however, involved another 100,000 women without the disorder. Scientists analyzed the genome of both groups, looking for common genes among women in the first group. This allowed them to isolate 14 mutated genes that could be the cause of the disorder.

Abnormal genes control metabolic and reproductive functions. In addition, some of them are associated with disorders such as depression, obesity and diabetes. It is not entirely clear how these 14 genes have an impact on the functioning of the ovaries. The study made it possible to better understand the syndrome, but the road is still long. In fact, to date, the diagnosis is often difficult due to the heterogeneity of the symptoms and the type of patients.

Today the hope is to simplify the diagnostic process and find new therapeutic approaches.

Source: tg24.sky.it

Taking weight during pregnancy is normal, within certain limits. Numerous studies show that eating too much in pregnancy affects the health of both the mother and the baby. But researchers at the University of California went further. In fact, their study analyzes the long-term effects of a too high-fat pregnant diet. From what emerged, a diet unregulated during gestation reprograms the metabolism even after delivery. It therefore makes it easier to gain weight in subsequent years.

A team of researchers analyzed the state of health of a group of pregnant guinea pigs. Scholars fed part of the guinea pigs in a normal way and partly with very fat foods. The guinea pigs of the second group obviously took a lot of weight, but they lost almost immediately after giving birth. Despite this, the effects of high-fat nutrition were seen months after delivery.

The guinea pigs have resumed eating normally after losing weight. Even with a normal diet, three months after giving birth they began to gain weight. Nine months after delivery, they weighed about twice as high as the average. According to scholars, the high fat diet carried out during pregnancy has slowed the metabolism even at the end of gestation. This made it easier to accumulate fat mass and excess weight.

What has been discovered for mice is also applicable to humans. A too fat diet during pregnancy could increase the risk of obesity in years of childbirth. Even losing weight immediately, in fact, would remain the changes made to the metabolism with a diet so uneven. For further confirmation, however, an analysis will also be conducted on human beings.

Source: medicalxpress.com

According to a study led by Professor Susan Murphy at Duke University, too much cannabis could reduce male fertility. THC could in fact condition the DNA methylation of spermatozoa. The result? Less healthy gametes and less able to fertilize an oocyte, triggering the embryo development process. In addition, cannabis could significantly reduce sperm count. For this reason, the teacher advises to cut the consumption at least six months before starting to try to have a child.

The use of cannabis immediately before and during pregnancy is at the center of a large number of studies. To date, it is unclear how the substance affects embryonic development. In this case, however, at the center of the study there was the impact on male fertility rather than on the embryo itself. Researchers have in fact analyzed the effects of consumption on animal models and on 24 human volunteers.

Scholars compared the sperm of those who used cannabis regularly, those who had stopped for six months and those who had used it no more than 10 times in their lives. The semen of men with high levels of THC in the urine showed much more genetic anomalies than others. The genes involved would have an important impact on fertility and, it is thought, also on the possible development of an embryo.

The next step will be to gather a much larger group of volunteers. In this way there will be more material to evaluate the real effects of the substance on male fertility.

Source: medicaldialogues.in