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Study sheds light on how extra chromosome 21 upsets equilibrium of entire genome in Down syndrome

Occurring in about one per eight hundred births, Down syndrome - or trisomy 21 - is the most frequent genetic cause of intellectual disability. It results from a chromosomal abnormality where cells of affected individuals contain a third copy of chromosome 21 (1% of the human genome). [More]

Financial pressures lead patients, doctors to choose fertility treatments that raise risk of premature birth

While it is well known that fertility treatments are the leading cause of increases in multiple gestations and that multiples are at elevated risk of premature birth, these results are not inevitable, concludes an article in Fertility and Sterility. [More]

IVF prevents multiple births in patients undergoing fertility treatments

While fertility treatments have helped many people become parents, they commonly result in multiple births, increasing the risk of prematurity, and leading to lifelong complications. [More]
Carb breakdown gene linked to obesity, researchers find

Carb breakdown gene linked to obesity, researchers find

Researchers at King's College London and Imperial College London have discovered that people with fewer copies of a gene coding for a carb-digesting enzyme may be at higher risk of obesity. The findings, published in Nature Genetics, suggest that dietary advice may need to be more tailored to an individual's digestive system, based on whether they have the genetic predisposition and necessary enzymes to digest different foods. [More]
Six in every ten serious heart defects in foetuses go undetected in ultrasound scans

Six in every ten serious heart defects in foetuses go undetected in ultrasound scans

Over six in every ten serious heart defects in foetuses go undetected in the ultrasound scans given to all pregnant women. According to research at Linköping University in Sweden, one reason why malformations are not found is obesity in the expectant mother. [More]
Twin brains reveal similar progressions of neuropathological changes

Twin brains reveal similar progressions of neuropathological changes

Despite widespread use of a single term, Alzheimer's disease is actually a diverse collection of diseases, symptoms and pathological changes. [More]

Dyspnea during light daily activities used as indicator of exercise intolerance and low fitness

Dyspnea, a sensation of breathlessness, during light daily activities can be used as an indicator of exercise intolerance and low fitness. According to a study on Finnish twins, persistent or developing dyspnea reveals an increased risk of death. [More]
ACOG’s consensus statement on preventing first-time cesareans

ACOG’s consensus statement on preventing first-time cesareans

Today's release of the American College of Obstetricians and Gynecologists' (ACOG) consensus statement on preventing first-time cesareans is an important step in closing gaps between evidence and the day-to-day care that women receive in pregnancy and labor. [More]
Heartier appetite linked to more rapid infant growth, weight gain

Heartier appetite linked to more rapid infant growth, weight gain

A heartier appetite is linked to more rapid infant growth and to genetic predisposition to obesity, according to two papers published in JAMA Pediatrics today (Monday). [More]
Sleep duration impacts on genetic risk of depressive symptoms

Sleep duration impacts on genetic risk of depressive symptoms

Both long and short sleep durations are associated with an increased heritability of depression, study findings show. [More]
Study points to molecular pathway to treat recurring, deadly malignancies

Study points to molecular pathway to treat recurring, deadly malignancies

Analyzing the genomes of twin 3-year-old sisters – one healthy and one with aggressive leukemia – led an international team of researchers to identify a novel molecular target that could become a way to treat recurring and deadly malignancies. [More]
Study: Sensitivity to pain could be altered by person's lifestyle and environment

Study: Sensitivity to pain could be altered by person's lifestyle and environment

Researchers at King's College London have discovered that sensitivity to pain could be altered by a person's lifestyle and environment throughout their lifetime. The study is the first to find that pain sensitivity, previously thought to be relatively inflexible, can change as a result of genes being switched on or off by lifestyle and environmental factors - a process called epigenetics, which chemically alters the expression of genes. [More]
Research: Shy toddlers delay in speaking but not in understanding

Research: Shy toddlers delay in speaking but not in understanding

Scientists have known that shy toddlers often have delayed speech, but a new study by the University of Colorado Boulder shows that the lag in using words does not mean that the children don't understand what's being said. [More]

Sub-optimal sleep may activate depressive genes, increase risk for major depression

A genetic study of adult twins and a community-based study of adolescents both report novel links between sleep duration and depression. The studies are published in the Feb. 1 issue of the journal Sleep. [More]
Researchers assess familial risks for MS using population registers, health care registries

Researchers assess familial risks for MS using population registers, health care registries

Even though multiple sclerosis is largely caused by genetic factors, the risk of patients' relatives developing the disease is lower than previously assumed. This is the conclusion of a new population registry-based study, published in the scientific journal Brain. [More]

Development of physical aggression in toddlers strongly linked with genetic factors

The development of physical aggression in toddlers is strongly associated genetic factors and to a lesser degree with the environment, according to a new study led by Eric Lacourse of the University of Montreal and its affiliated CHU Sainte-Justine Hospital. Lacourse's worked with the parents of identical and non-identical twins to evaluate and compare their behaviour, environment and genetics. [More]
Study shows wide-ranging variation in patterns of X chromosome inactivation in female mice

Study shows wide-ranging variation in patterns of X chromosome inactivation in female mice

Producing brightly speckled red and green snapshots of many different tissues, Johns Hopkins researchers have color-coded cells in female mice to display which of their two X chromosomes has been made inactive, or “silenced.” [More]

High aerobic fitness in late adolescence may reduce heart attack risk later in life

Researchers in Sweden have found an association between a person’s fitness as a teenager and their risk of heart attack in later life. In a study of nearly 750,000 men, they found that the more aerobically fit men were in late adolescence, the less likely they were to have a heart attack 30 or 40 years later. [More]
GRU combines with national Cooperative to improve treatment of reproductive health

GRU combines with national Cooperative to improve treatment of reproductive health

Georgia Regents University has joined the national Cooperative Multicenter Reproductive Medicine Network designed to enable large clinical trials that improve the diagnosis and treatment of reproductive health issues such as male and female infertility. [More]
Autoimmune clue to narcolepsy

Autoimmune clue to narcolepsy

Researchers have identified immune cells in patients with narcolepsy that react against hypocretin, the lack of which causes the disorder. [More]