Birth Defects News
July 28, 2016

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More Birth Defects News
July 28, 2016

July 22, 2016 — Scientists have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial development ... read more

Shaken Baby Syndrome Accepted as Diagnosis by Majority of Physicians

July 22, 2016 — Survey data reveals a high degree of medical consensus that shaking a young child is capable of producing subdural hematoma (a life-threatening pooling of blood outside the brain), severe retinal ... read more

New Intellectual Disability Syndrome Caused by Genetic Damage to Single Gene

July 21, 2016 — Scientists have found a gene responsible for an intellectual disability disorder and proven how it works. The research, details the role of a gene called BCL11A in a new intellectual disability ... read more

Discovery Yields Answers for Family With Thoracic Aortic Aneurysm and Dissection

July 18, 2016 — Through genetic analysis of a family with a history of thoracic aortic aneurysm and dissection (TAAD), investigators have identified mutations in the LOX gene, a gene associated with the integrity of ... read more

Children Are Affected by Parental Substance Use

July 18, 2016 — Children whose caregivers misuse alcohol or use, produce or distribute drugs face an increased risk of medical and behavioral problems. According to a new clinical report, pediatricians hold the ... read more

New Genetic Cause of Coats Plus Syndrome

July 18, 2016 — A team of Israeli researchers has discovered that mutations in STN1, a gene that helps maintain the ends of chromosomes, cause the rare, inherited disorder Coats plus ... read more

Antibodies in Patients With Rare Disorder May Have Role Preventing Type 1 Diabetes

July 14, 2016 — People with a rare autoimmune disorder produce autoimmune antibodies that appear to be linked to a reduced occurrence of type 1 diabetes, new research has found. The study suggests these antibodies ... read more

July 14, 2016 — Researchers have mapped out the sets of biological and chemical signals necessary to quickly and efficiently direct human embryonic stem cells to become pure populations of any of 12 cell types, ... read more

July 13, 2016 — The majority of cases of autism spectrum disorder (ASD) are unknown. Now researchers have created a "mini-brain" model, derived from persons with a particular form of idiopathic ASD ... read more

Sound Waves May Hold Potential to Treat Twin Pregnancy Complications

July 13, 2016 — High energy sound waves could treat a potentially deadly complication that affects some twin pregnancies, says new ... read more

First Drug Target Identified for Children With Rare Type of Brain Tumor

July 13, 2016 — Primitive neuroectodermal tumors are the largest group of malignant brain tumors in children. They can arise from the brain's cerebellum or from tissue located throughout the central nervous ... read more

Umbilical Cord Patch Could Be Method for Fetal Spina Bifida Repair

July 12, 2016 — A patch made from cryopreserved human umbilical cord may be a novel method for treating spina bifida in utero, according to ... read more

Boy Babies at Greater Risk of Pregnancy Complications

July 11, 2016 — Boy babies are much more likely to experience potentially life-threatening outcomes at birth than girls, new research has confirmed. The research investigated data of more than 574,000 South ... read more

Association Discovered Between Atrial Fibrillation, Reduced Frontal Lobe Brain Volumes

July 11, 2016 — People who experience the heart arrhythmia atrial fibrillation, may also suffer from a smaller brain, specifically reduced frontal lobe volume, according to a recent Framingham Heart ... read more

An Epigenetic Mechanism Is Involved in Development of Autoinflammatory Diseases

July 8, 2016 — Scientists have identified an epigenetic mechanism involved in the development of autoinflammatory diseases. The observed epigenetic changes open up possibilities for the development of novel ... read more

July 7, 2016 — Hallmarks of early brain overgrowth have been discovered in cells of people with autism. These findings suggest that it is possible to use stem cell reprogramming technologies developed in the past ... read more

Study Identifies a Developmental Cause of Cardiac Hypertrophy

July 7, 2016 — A developmental cause of adult-onset cardiac hypertrophy, a dangerous thickening of the heart muscle that can lead to heart failure and death, has been identified by researchers. They say that the ... read more

Critical Care Health Care Professionals Have High Rates of Burnout Syndrome

July 7, 2016 — A new report on burnout syndrome in critical care health care professionals gives key stakeholders guidance on mitigating the development of burnout syndrome and calls for initiating research to ... read more

New Rapid Gene Test for Mitochondrial Disease

July 7, 2016 — A genetic test has been developed, providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene. The team of medics and ... read more

The Benefits of Exercise During Pregnancy

July 7, 2016 — Women who exercise during pregnancy are more likely to deliver vaginally than those who do not, and show no greater risk of preterm birth, research ... read more

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