Body

Until now, de novo genetic mutations, alterations in a gene found for the first time in one family member, were believed to be mainly the result of new mutations in the sperm or eggs (germline) of one of the parents and passed on to their child.

Researchers from The Netherlands have now succeeded in determining that at least 6.5% of de novo mutations occur during the development of the child (post-zygotic) rather than from the germline of a parent. The research is published today in the American Journal of Human Genetics*.

Thoracic aortic aneurysm and dissection (TAAD), an enlargement or tearing of the walls of the aorta in the chest, is, together with abdominal aortic aneurysms, responsible for about 2% of all deaths in Western countries. The aorta is the largest artery in the body, and carries blood from the heart. About one out of every five patients with TAAD has a family member with the same disorder, therefore indicating a genetic cause. However, the relevant genetic mutations discovered so far only explain about 30% of all cases.

Researchers have discovered that a rabbit virus can deliver a one-two punch, killing some kinds of cancer cells while eliminating a common and dangerous complication of bone marrow transplants. For patients with blood cancers such as leukemia and multiple myeloma, a bone marrow transplant can be both curative and perilous. It replenishes marrow lost to disease or chemotherapy but raises the risk that newly transplanted white blood cells will attack the recipient's body.

A daily sugar-sweetened beverage habit may increase the risk for non-alcoholic fatty liver disease (NAFLD).

You are a patient who has just been treated for a serious illness but neither you nor your doctor knows how likely it is that you -- in comparison with other patients -- will actually be helped by the treatment. This is often the situation with prostate cancer, one of the deadliest and most highly prevalent cancers. While hormone therapy can help, patient responses vary widely, and it's still unclear why some types of prostate cancer seem to be resistant to the therapy.

An American study in mice reveals that hormones that dictate a female's attraction towards males do so in part by controlling her sense of smell. The findings, published June 4 in Cell, provide an example of how hormones may use the nose to circumvent the brain and influence behavior.

In many animal species, the chromosomes differ between the sexes. The male has a Y chromosome. In some animals, however, for example birds, it is the other way round. In birds, the females have their own sex chromosome, the W chromosome. For the first, researchers in Uppsala have mapped the genetic structure and evolution of the W chromosome.

Cancer has overtaken cardiovascular disease, which includes heart disease and stroke, as the UK's No 1 killer--but only among men, reveals research published online in the journal Heart.

Cardiovascular disease is still the most common cause of death among women, and kills more young women than breast cancer, the figures show.

Many aquatic species have a reputation for negligent parenting. Having cast their gametes to the currents, they abandon their offspring to their fate. However, hands-on parenting is taken to a whole new dimension in the Syngnathidae fish family. Instead of leaving the responsibility to the females, seahorse and pipefish males take the pledge to care for their young even before the eggs are fertilized. The females depart soon after placing their eggs directly into the male's brood pouch, leaving the soon-to-be fathers to incubate the developing embryos.

Biparental care of offspring, or care that is administered by both parents, occurs in only a minority of species, including humans. Past studies have shown that maternal care can be negatively affected when females are exposed to widely prevalent endocrine-disrupting chemicals including Bisphenol-A (BPA); however, no studies have shown how this chemical can affect maternal and paternal care when both parents are exposed.

What causes us to lose muscle strength as we age and how exercise can prevent it from happening has never been thoroughly understood, but McMaster University researchers have discovered a key protein required to maintain muscle mass and muscle strength during aging.

This important finding means new and existing drugs targeting the protein may potentially be used to preserve muscle function during aging.

University of Adelaide researchers have discovered cerebral palsy has an even stronger genetic cause than previously thought, leading them to call for an end to unnecessary caesareans and arbitrary litigation against obstetric staff.

In an authoritative review published in the American Journal of Obstetrics & Gynecology, members of the Australian Cerebral Palsy Research Group, based at the University of Adelaide's Robinson Research Institute, argue that up to 45% of cerebral palsy cases can have genetic causes.

In a population of Congo Basin foragers called the Aka, 67% of men—but only 6% of women—use cannabis, and the practice seems to protect against infection with parasitic worms.

The large sex difference, which is also seen in tobacco use, might be a consequence, in part, of women's avoidance of potentially toxic substances during childbearing years.

The results provide evidence of a link between parasite infection and drug use, two of the developing world's great health problems, and they highlight the need for more research on the high rate of substance use in Aka men.

New recommendations offer insights on strategies for treating infants with seizures. In an Epilepsia report, child neurologists who are members of the International League Against Epilepsy note that intervening at the time of a febrile seizure does not alter the risk for subsequent epilepsy, and there is no evidence to support the use of antiepileptic drugs for simple febrile seizures. However, recurrent seizures warrant an urgent assessment, and a variety of antiepileptic drugs may benefit these patients.

Collegiate women who wore shoes with 10 cm high heels more than 3 times per week to their classes developed an imbalance of 4 functional ankle muscles. While wearing high-heeled shoes appeared to strengthen ankle muscles at first, prolonged use eventually caused an imbalance, which is a crucial predictor of ankle injury.