Showing 20 articles starting at article 1
Categories: Birth Defects
Published Pregnancy cytokine levels impact fetal brain development and offspring behavior (via sciencedaily.com) Original source
Researchers have discovered in a preclinical model that cytokines, proteins that control immune response, circulating in maternal blood during pregnancy may mitigate an offspring's risk for psychiatric conditions. The findings are surprising because circulating maternal cytokines are at such low levels that they were not implicated in fetal brain development and offspring behavior before.
Published Gene-based therapy restores cellular development and function in brain cells from people with Timothy syndrome (via sciencedaily.com) Original source
In a proof-of-concept study, researchers demonstrated the effectiveness of a potential new therapy for Timothy syndrome, an often life-threatening and rare genetic disorder that affects a wide range of bodily systems, leading to severe cardiac, neurological, and psychiatric symptoms as well as physical differences such as webbed fingers and toes.
Published Mosaics of predisposition cause skin disease (via sciencedaily.com) Original source
Clarifying the cause of a skin disease led to the discovery of a new disease-causing gene, a new category of diseases, and new perspectives for both counseling and therapy. The discovery is the first time that epigenetic silencing, the 'switching off' of an otherwise intact gene, has been recognized as the cause for a skin disease.
Published Genetic variant identified that shaped the human skull base (via sciencedaily.com) Original source
Researchers have identified a variant in the gene TBX1 as key in the development of the unique morphology at the base of the skull. TBX1 is present at higher levels in humans than in closely related hominins. Low TBX1 also occurs in certain genetic conditions causing altered skull base morphology. This study provides a greater understanding of human disease and evolution.
Published Adults with congenital heart disease faced higher risk of abnormal heart rhythms (via sciencedaily.com) Original source
Adults with congenital heart defects were more likely to experience an abnormal, irregular heartbeat, finds a new study.
Published Two key brain systems are central to psychosis (via sciencedaily.com) Original source
When the brain has trouble filtering incoming information and predicting what's likely to happen, psychosis can result, research shows.
Published Impact of aldehydes on DNA damage and aging (via sciencedaily.com) Original source
Researchers have discovered the connection between aldehydes, organic compounds produced by cells as part of metabolic processes, and rapid aging. Their findings indicate a potential treatment for diseases that lead to accelerated aging as well as a means to counteract aging in healthy people by controlling exposure to aldehyde-inducing substances including alcohol, pollution, and smoke.
Published Are lab-grown brain tissues ethical? There is no no-brainer answer (via sciencedaily.com) Original source
Researchers offer insights into the ethical dilemmas and legal complexities surrounding brain organoids, especially those derived from human fetal tissue. Their findings advocate for thorough regulatory frameworks to ensure that scientific and medical progress in this field is conducted responsibly and ethically, with strong regulations supported by sound ethical and legal principles.
Published Mitochondrial roles in antiviral immunity modify manifestations of neurological diseases (via sciencedaily.com) Original source
Scientists report that a progressive neurodegenerative disease can be triggered by a viral infection. The mechanism relates to mitochondrial roles in antiviral defense mechanisms.
Published Even moderate alcohol usage during pregnancy linked to birth abnormalities (via sciencedaily.com) Original source
Researchers have found that even low to moderate alcohol use by pregnant patients may contribute to subtle changes in their babies' prenatal development, including lower birth length and a shorter duration of gestation.
Published YKT6 gene variants cause a new genetic disorder finds a new study (via sciencedaily.com) Original source
A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.
Published Synaptic protein change during development offers clues on evolution and disease (via sciencedaily.com) Original source
An analysis of how synaptic proteins change during early development reveals differences between mice and marmosets but also what's different in individuals with autism spectrum disorders. The findings offer first insights into the mechanism behind synaptic development and open up routes for research on possible treatments.
Published Study of different autism types finds shared mechanism that may respond to drugs (via sciencedaily.com) Original source
An analysis of how brains with different forms of autism develop has revealed common underlying mechanisms that may respond to existing medications.
Published Study eases concern at antipsychotics use in pregnancy (via sciencedaily.com) Original source
The use of antipsychotics during pregnancy isn't linked to childhood neurodevelopmental disorders or learning difficulties, study suggests -- giving assurance to those concerned about continuing their medications during pregnancy.
Published Abnormal brain structure identified in children with developmental language problems (via sciencedaily.com) Original source
A rigorous analysis of numerous studies concludes that a part of the brain traditionally associated with movement is abnormal in children with developmental language impairments. The discovery has the potential to improve both the diagnosis and treatment of the language difficulties.
Published FRYL gene variants linked to a new neurological disorder (via sciencedaily.com) Original source
A recent study links the FRYL gene to a new neurodevelopmental disorder in humans. They used fruit flies to establish that the loss of a functional copy of the FRY-like transcription coactivator (FRYL) gene is the underlying cause of this new disorder in fourteen individuals.
Published Integrity of blood-brain barrier depends on protein that is altered in some neurodegenerative diseases (via sciencedaily.com) Original source
Defects in the blood vessel network of the central nervous system have been linked to early symptoms of neurodegenerative diseases such as Alzheimer's disease and amyotrophic lateral sclerosis (ALS). It is this complex vascular network that provides the necessary nutrients -- especially glucose and oxygen -- to activate all neuronal functions. A new study reveals that the TDP-43 protein is essential for forming a stable and mature blood vessel network in the central nervous system.
Published Adding folic acid to table salt could prevent life-threatening birth defects (via sciencedaily.com) Original source
A team of international researchers has demonstrated, for the first time in a field study, that using folic acid-fortified iodized table salt can prevent multiple severe birth defects.
Published Psychosocial stressors linked to higher inflammation in Black pregnant women (via sciencedaily.com) Original source
Living in neighborhoods with more white residents and greater lifetime experiences of racial discrimination are linked to increased systemic inflammation during pregnancy among Black women, according to new research.
Published This injectable hydrogel mitigates damage to the right ventricle of the heart (via sciencedaily.com) Original source
An injectable hydrogel can mitigate damage to the right ventricle of the heart with chronic pressure overload, according to a new study. In 2019, this same hydrogel was shown to be safe in humans through an FDA-approved Phase 1 trial in people who suffered a heart attack. As a result of the new preclinical study, the FDA approved an investigational new drug application to start a clinical trial with the hydrogel in pediatric patients in the coming months, once institutional approvals are received.