Cystic fibrosis (CF) can affect a person's quality of life and influence their life expectancy. How long someone with CF can expect to live depends on their age and the stage of their condition.
It was long believed the FMR1 premutation -- an excessive number of trinucleotide repeats in the FMR1 gene -- had no direct effect on the people who carry it. Until recently, the only recognized effect on the carriers of the flawed gene was the risk of having offspring with fragile X syndrome, a rare but serious form of developmental disability.
Scientists know that patients with phenylketonuria (PKU) are prone to many cardiovascular risk factors, but so far, their clinical significance has remained unclear. Researchers at the University Medical Center in Berlin found out what disorders are characterized by problems in patients with phenylketonuria.
Pregnancy complications affect maternal and fetal health. Various diseases, such as arterial hypertension and diabetes during pregnancy, often cause these complications. The main problems are finding markers for early detection of pregnancy complications. Reducing the time between the onset of complications and the initiation of appropriate treatment can prevent and reduce maternal and intrauterine morbidity and mortality. However, the value of screening for pregnant women with complications is uncertain due to the limited amount of knowledge about their contribution to the development of these pathologies.
