ScienceDaily: Birth Defects News

Flu in pregnancy may quadruple child's risk for bipolar disorder

Tue, 14 May 2013 10:14:14 EDT

Flu in pregnant mothers has been linked to a nearly fourfold increased risk that their child might develop bipolar disorder in adulthood. The findings add to mounting evidence of possible shared underlying causes and illness processes with schizophrenia, which some studies have also linked to prenatal exposure to influenza.

Non-inherited mutations account for many heart defects

Sun, 12 May 2013 14:12:12 EDT

New mutations that are absent in parents but appear in their offspring account for at least 10 percent of severe congenital heart disease, reveals a massive genomics study.

Spontaneous mutations play a key role in congenital heart disease

Sun, 12 May 2013 14:06:06 EDT

Although genetic factors contribute to congenital heart disease, many children born with heart defects have healthy parents and siblings, suggesting that new mutations that arise spontaneously —- known as de novo mutations —- might contribute to the disease. New research shows that about 10 percent of these defects are caused by genetic mutations that are absent in the parents of affected children.

Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue

Thu, 09 May 2013 13:32:32 EDT

Researchers have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding opens new avenues for research into a diagnosis and treatment for these until now incurable diseases.

Advance in tuberous sclerosis brain science

Thu, 09 May 2013 12:34:34 EDT

By manipulating the timing of disease-causing mutations in the brains of developing mice, researchers have found that early genetic deletions in the thalamus may play an important role in course and severity of the developmental disease tuberous sclerosis complex.

Birthing centers provide equal or better deliveries, study shows

Wed, 08 May 2013 21:31:31 EDT

Low-income women who chose to deliver their baby at a birthing center under the care of a certified nurse-midwife had the same or better birthing experience as women under traditional care with a hospital-based obstetrician, according to a new study.

Game-changing discovery of gene mutation that causes Sturge-Weber syndrome, port-wine stain birthmarks offers new hope

Wed, 08 May 2013 21:31:31 EDT

Researchers have discovered the cause -- a genetic mutation that occurs before birth -- of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.

Scientists identify early predictors of disease progression which could speed Huntington's disease drug trials

Wed, 08 May 2013 21:30:30 EDT

Scientists have identified a set of tests that could help identify whether and how Huntington’s disease (HD) is progressing in groups of people who are not yet showing symptoms.

Carnitine supplement may improve survival rates of children with heart defects

Wed, 08 May 2013 13:18:18 EDT

A common nutritional supplement may be part of the magic in improving the survival rates of babies born with heart defects, researchers report.

Geneticists find causes for severe childhood epilepsies

Wed, 08 May 2013 09:30:30 EDT

Using a DNA sequencing technique capable of deciphering all human genes at the same time, researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.

Women with unintended pregnancy are more likely to suffer from postpartum depression

Tue, 07 May 2013 19:58:58 EDT

Women with unintended pregnancy are four times more likely to suffer from postpartum depression at twelve months postpartum, suggests a new study.

Breast milk ingredient could prevent deadly intestinal problem in preemies

Mon, 06 May 2013 18:16:16 EDT

An ingredient that naturally occurs in breast milk might be used to prevent premature babies from developing a deadly intestinal condition that currently is largely incurable, according to researchers.

Children living near toxic waste sites in developing countries may experience higher blood lead levels resulting in lower IQ

Mon, 06 May 2013 09:48:48 EDT

Researcher estimates that lead exposure could cause mental retardation in 6 in 1,000 children living near toxic waste sites.

Childhood disability rate jumps 16 percent over past decade

Sun, 05 May 2013 07:37:37 EDT

More children today have a disability than a decade ago, and the greatest increase is among kids in higher-income families, according to a new study.

Heart cells change stem cell behavior

Thu, 02 May 2013 14:27:27 EDT

Stem cells drawn from the amniotic fluid of pregnant women change their behavior when near heart cells, but do not become heart cells.

'Dark genome' is involved in Rett Syndrome

Thu, 02 May 2013 14:26:26 EDT

Researchers have described alterations in noncoding long chain RNA sequences in Rett syndrome.

Turning human stem cells into brain cells sheds light on neural development

Thu, 02 May 2013 13:19:19 EDT

Medical researchers have manipulated human stem cells into producing types of brain cells known to play important roles in neurodevelopmental disorders such as epilepsy, schizophrenia and autism. The new model cell system allows neuroscientists to investigate normal brain development, as well as to identify specific disruptions in biological signals that may contribute to neuropsychiatric diseases.

Investigating devastating childhood diseases just got easier

Thu, 02 May 2013 08:18:18 EDT

Induced pluripotent stem cells (iPScs) from the skin of patients with Dravet syndrome (DS) show Dravet-like functional impairment when they are converted into neurons, finds new research. This method provides a non-invasive way to investigate diseases which affect the nervous system of humans.

Bigger birth weight babies at greater risk of autism

Thu, 02 May 2013 08:17:17 EDT

The biggest study of fetal growth and autism to date has reported that babies whose growth is at either extreme in the womb, either very big or very small, are at greater risk of developing autism.

Why some don't respond to rubella vaccine

Wed, 01 May 2013 19:29:29 EDT

Using advanced genetic sequencing technology and analysis, vaccine researchers have identified 27 genes that respond in very different ways to the standard rubella vaccine, making the vaccine less effective for a portion of the population.

Scientists find mutation driving pediatric brain tumors

Tue, 30 Apr 2013 19:40:40 EDT

A type of low-grade but sometimes lethal brain tumor in children has been found in many cases to contain an unusual mutation that may help to classify, diagnose and guide the treatment of the tumors, report scientists.

Women who drink before pregnancy less likely to take multivitamins

Tue, 30 Apr 2013 13:11:11 EDT

Researchers have found a link between multivitamin use and alcohol consumption before pregnancy, uncovering a need for education about the importance of vitamin supplementation, particularly among women who drink alcohol during their childbearing years.

Pregnant women with high celiac disease antibodies are at risk for low birth weight babies

Mon, 29 Apr 2013 16:49:49 EDT

Pregnant women with mid to high levels of antibodies common in patients with celiac disease are at risk for having babies with reduced fetal weight and birth weight, according to a new study. The antibody tissue transglutaminase is most commonly found in patients with celiac disease.

People with congenital heart disease need physical activity, study suggests

Mon, 29 Apr 2013 16:48:48 EDT

People born with a heart defect need physical activity. Some irregular heart beat conditions may require activity restrictions but for most patients physical activity is unlimited.

Molecular role of gene linked to blood vessel formation uncovered

Mon, 29 Apr 2013 12:55:55 EDT

Researchers have discovered that disrupting a gene that acts as a regulatory switch to turn on other genes can keep blood vessels from forming and developing properly.

Potential new way to detect colorectal and other cancers

Thu, 25 Apr 2013 16:01:01 EDT

A unique new study reveals a novel mechanism explaining the previously unknown root cause of some forms of colorectal cancers.

Gene networks in brains of deceased patients reveal potential therapy for Alzheimer's disease

Thu, 25 Apr 2013 13:26:26 EDT

Most information about the cause of Alzheimer's is based on studies from animal models. Now, a study examines the brain tissue of deceased human patients and sheds light on dysfunctions in molecular networks in the brain that are at the root of Alzheimer's. By showing that the TYROBP gene plays a key role in disrupting immune system pathways in the brains of Alzheimer's patients, the study reveals a potential therapeutic target for preventing brain damage.

Autism risk spotted at birth in abnormal placentas

Thu, 25 Apr 2013 09:16:16 EDT

Researchers have figured out how to measure an infant's risk of developing autism by looking for abnormalities in his/her placenta at birth, allowing for earlier diagnosis and treatment for the developmental disorder.

Intractable seizures halted with experimental treatment for rare pediatric 'Pretzel syndrome'

Wed, 24 Apr 2013 16:09:09 EDT

With a better understanding of underlying mechanisms that cause a rare neurodevelopmental disorder in the Old Order Mennonite population, referred to as Pretzel syndrome, a new study reports that five children were successfully treated with a drug that modifies the disease process, minimizing seizures and improving receptive language.

Use of anti-epileptic drug during pregnancy associated with increased risk of autism

Tue, 23 Apr 2013 16:18:18 EDT

Maternal use of valproate (a drug used for the treatment of epilepsy and other neuropsychological disorders) during pregnancy was associated with a significantly increased risk of autism in offspring, according to a new study. The authors caution that these findings must be balanced against the treatment benefits for women who require valproate for epilepsy control.

Repairing articular cartilage defects with an injectable gel engineered with gene modified BMSCs

Tue, 23 Apr 2013 14:43:43 EDT

Tissue engineering combined with gene therapy technology has the potential to manage the repair of defective articular cartilage. In this study, through minimally invasive injection methods the authors were able to repair rabbit articular cartilage defects with CS/PVA gel and gene modified BMSCs.

Epigenetic changes shed light on biological mechanism of autism

Tue, 23 Apr 2013 09:11:11 EDT

Scientists have identified patterns of epigenetic changes involved in autism spectrum disorder (ASD) by studying genetically identical twins who differ in autism traits. The study is the largest of its kind and may shed light on the biological mechanism by which environmental influences regulate the activity of certain genes and in turn contribute to the development of ASD and related behavior traits.

New understanding of asthma development: Transmission of respiratory viruses in utero

Thu, 18 Apr 2013 21:40:40 EDT

The most common cause of lower respiratory tract infections in infants and young children, respiratory syncytial virus, can be transferred during pregnancy to an unborn baby, according to new research.

Toxic protein made in unusual way may explain brain disorder

Thu, 18 Apr 2013 12:43:43 EDT

A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities. The discovery may lead to better treatments for older adults with a recently discovered genetic condition called Fragile X-associated Tremor Ataxia Syndrome.

Discovery of genetic defect which triggers epilepsy

Wed, 17 Apr 2013 09:19:19 EDT

Researchers have identified a gene behind an epilepsy syndrome, which could also play an important role in other idiopathic (genetically caused) epilepsies. With the so-called "next generation sequencing", with which genetic changes can be identified within a few days, it was ascertained that the CNTN2 gene is defective in this type of epilepsy.

Molecular signaling in early placenta formation gives clues to causes of pregnancy complications

Tue, 16 Apr 2013 18:00:00 EDT

Understanding the molecular control of placenta formation, the organ which enables fetal growth, is critical in diagnosing and treating related pregnancy complications. Scientists have now revealed a molecular feedback loop that governs the earliest steps of placenta formation in mice, which is known to mimic placenta formation in humans.

Cholesterol increases risk of Alzheimer's and heart disease

Mon, 15 Apr 2013 18:25:25 EDT

Using insights gained from studying two much rarer disorders, Down Syndrome and Niemann Pick-C disease, researchers found that cholesterol wreaks havoc on the orderly process of cell division, leading to defective daughter cells throughout the body.

Autism model in mice linked with genetics

Mon, 15 Apr 2013 18:23:23 EDT

For the first time, researchers have linked autism in a mouse model of the disease with abnormalities in specific regions of the animals’ chromosomes.

Mutations found in individuals with autism interfere with endocannabinoid signaling in the brain

Thu, 11 Apr 2013 12:38:38 EDT

Mutations found in individuals with autism block the action of molecules made by the brain that act on the same receptors that marijuana's active chemical acts on, according to new research. The findings implicate specific molecules, called endocannabinoids, in the development of some autism cases and point to potential treatment strategies.

Rx target for HPV, Hep C and related cancers revealed

Wed, 10 Apr 2013 13:15:15 EDT

New discoveries for the first time reveal the inner workings of a master regulator that controls functions as diverse as the ability of nerve cells to "rewire" themselves in response to external stimuli and the mechanism by which certain viruses hijack normal cellular processes to facilitate their replication that can ultimately lead to cancer.

Neurodegenerative disease advance: Study details how brain enzyme interacts with drug-like lead compound for Huntington's

Wed, 10 Apr 2013 13:12:12 EDT

A significant breakthrough has been made towards developing an effective treatment for neurodegenerative diseases such as Huntington's, Alzheimer's and Parkinson's. Researchers have detailed how an enzyme in the brain interacts with a promising drug-like lead compound for Huntington's disease to inhibit its activity. Their findings demonstrate that it can be developed as an effective treatment for neurodegenerative diseases.

New therapy for fragile X chromosome syndrome discovered

Wed, 10 Apr 2013 08:24:24 EDT

Researchers have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of the disease.

Researchers find heart disorder genetic variants in stillbirth cases

Tue, 09 Apr 2013 17:32:32 EDT

In a first-of-its-kind study, researchers have discovered genetic mutations associated with long QT syndrome (LQTS), a genetic abnormality in the heart’s electrical system, in a small number of intrauterine fetal deaths, according to a new study.

Minocycline, an antibiotic, improves behavior for children with fragile X syndrome

Mon, 08 Apr 2013 18:44:44 EDT

Minocycline, an older, broad-spectrum antibiotic in the tetracycline family, provides meaningful improvements as a therapeutic for children with fragile X syndrome, a study has found.

ACMG releases statement on noninvasive prenatal screening

Mon, 08 Apr 2013 13:37:37 EDT

The new ACMG statement on "Noninvasive Prenatal Screening" addresses: The current limitations of NIPS; the advantages of NIPS compared with current screening approaches; pretest and posttest genetic counseling; the reporting of results by laboratories performing NIPS; and the oversight of analytical and bioinformatic components by testing of the laboratories performing NIPS.

Shedding light on a gene mutation that causes signs of premature aging

Mon, 08 Apr 2013 12:34:34 EDT

Researchers found that mice developed without the ATRX gene had problems in in the forebrain, the part of the brain associated with learning and memory, and in the anterior pituitary which has a direct effect on body growth and metabolism. The mice, unexpectedly, also displayed many of the symptoms associated with aging.

Developmental delays in children following prolonged seizures

Mon, 08 Apr 2013 08:50:50 EDT

Researchers have determined that developmental delays are present in children within six weeks following convulsive status epilepticus (CSE)—a seizure lasting longer than thirty minutes. The study suggests that neurodevelopmental impairments continue to be present one year after CSE.

Fetal exposure to excessive stress hormones in the womb linked to adult mood disorders

Sun, 07 Apr 2013 09:08:08 EDT

Exposure of the developing fetus to excessive levels of stress hormones in the womb can cause mood disorders in later life and now, for the first time, researchers have found a mechanism that may underpin this process.

Stem cells enable personalized treatment for bleeding disorder

Fri, 05 Apr 2013 09:43:43 EDT

Scientists have shed light on a common bleeding disorder by growing and analysing stem cells from patients' blood to discover the cause of the disease in individual patients.

New genetic evidence suggests a continuum among neurodevelopmental and psychiatric disorders

Tue, 02 Apr 2013 18:24:24 EDT

A broad spectrum of developmental and psychiatric disorders, ranging from autism and intellectual disability to schizophrenia, should be conceptualized as different manifestations of a common underlying denominator, "developmental brain dysfunction," rather than completely independent conditions with distinct causes, new research suggests.

Fast track to mouse modeling

Tue, 02 Apr 2013 12:48:48 EDT

What genes are responsible for the development of breast cancer? What are the brain cell mutations that lead to the onset of Alzheimer's? To find new therapies, scientists have to understand how diseases are triggered at cell level. Experiments on genetically modified mice are an indispensable part of basic medical research. Now a method has been found to help laboratories carry out their work with fewer test animals.

Study reveals risk factors for blood clots in pregnant and postnatal women

Tue, 02 Apr 2013 12:45:45 EDT

Women who have suffered a still birth or have medical conditions including varicose veins, inflammatory bowel disease (IBD) or heart disease are at greater risk of developing dangerous blood clots after giving birth, a study has revealed.

Prostate cancer risk rises in men with inherited genetic condition

Mon, 01 Apr 2013 12:09:09 EDT

Men with an inherited genetic condition called Lynch syndrome face a higher lifetime risk of developing prostate cancer and appear to develop the disease at an earlier age, according to a new study.

New insights into how genes turn on and off

Wed, 27 Mar 2013 13:25:25 EDT

Researchers have shed new light on methylation, a critical process that helps control how genes are expressed. Working with placentas, the team discovered that 37 percent of the placental genome has regions of lower methylation, called partially methylated domains, in which gene expression is turned off.

Details of gene pathways suggest fine-tuning drugs for child brain tumors

Tue, 26 Mar 2013 13:32:32 EDT

Pediatric researchers, investigating the biology of brain tumors in children, are finding that crucial differences in how the same gene is mutated may call for different treatments.

Significant insights into common form of autism: Study identifies genetic connections in 15q duplication syndrome

Tue, 26 Mar 2013 10:15:15 EDT

Results from a new study are providing significant insights into autism through the study of a specific form of the disorder caused by a duplication on chromosome 15.

MRI shows brain abnormalities in migraine patients

Tue, 26 Mar 2013 10:15:15 EDT

A new study suggests that migraines are related to brain abnormalities present at birth and others that develop over time.

Increased time to pregnancy linked to child's neurological development

Mon, 25 Mar 2013 20:25:25 EDT

Taking a long time to get pregnant may be linked to minor neurodevelopmental problems in the child, suggests a small study published online in the Fetal & Neonatal Edition of Archives of Disease in Childhood.

Molecular roots of Down syndrome unraveled

Sun, 24 Mar 2013 15:23:23 EDT

What is it about the extra chromosome inherited in Down syndrome -- chromosome 21 -- that alters brain and body development? Researchers have new evidence that points to the protein SNX27. SNX27 is inhibited by a molecule encoded on chromosome 21. The study shows that SNX27 is reduced in human Down syndrome brains. Restoring SNX27 in Down syndrome mice improves cognitive function and behavior.

Pain reliever shows anti-viral activity against flu

Thu, 21 Mar 2013 15:19:19 EDT

The over-the-counter anti-inflammatory drug naproxen may also exhibit antiviral activity against influenza A virus, according to a team of scientists. The findings are the result of a structure-based investigation.