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Pacific Northwest Research Institute uncovers hidden DNA mechanisms of rare genetic diseases

Researchers at PNRI reveal how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. These complex rearrangements are caused by segments of DNA switching templates during the repair process, leading to disruptions in normal gene function and contributing to genetic disorders.

SourcePacific Northwest Research Institute·JournalCell Genomics·TypeExperimental study·DateJun 21, 2024

Developmental supports crucial for young victims of child abuse

A new study highlights the importance of providing developmental supports to young victims of serious child abuse before they start school. Researchers found that children who were removed from their homes and entered out-of-home care were more likely to be developmentally delayed in some areas, but also vulnerable in other areas. The ...

SourceUniversity of South Australia·JournalChild Abuse & Neglect·TypeData/statistical analysis·DateJun 11, 2024

Presence of carpal tunnel syndrome may indicate a high risk of developing cardiac amyloidosis, according to study from All of Us Research Program

Researchers found a significant association between carpal tunnel syndrome and the risk of developing heart failure and amyloidosis. Individuals with carpal tunnel syndrome were at a 13% higher risk of heart failure and a threefold higher risk of amyloidosis compared to those without the condition.

SourceUniversity of Alabama at Birmingham·JournalMayo Clinic Proceedings·TypeData/statistical analysis·DateJun 3, 2024

POSTECH and ImmunoBiome team make strides in microbiome-based cancer therapies by iron deprivation at the tumor microenvironment

A team of POSTECH and ImmunoBiome has discovered a dietary-derived bacterial strain, IMB001, that induces nutritional immunity and boosts anti-tumor responses. The strain works by skewing tumor-infiltrating macrophages toward an inflammatory phenotype, leading to increased cell death of rapidly multiplying tumor cells.

SMART breakthrough research identifies mechanism behind drug resistance in malaria parasite

A recent study reveals that a cellular process called transfer Ribonucleic acid (tRNA) modification influences the malaria parasite’s ability to develop resistance. This breakthrough discovery could help researchers develop new drugs to combat resistance and better tools for studying RNA modifications.

SourceSingapore-MIT Alliance for Research and Technology (SMART)·JournalNature Microbiology·TypeExperimental study·DateMay 16, 2024

Study finds biomarkers for psychiatric symptoms in patients with rare genetic condition 22q

A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to 22q11.2 deletion syndrome, a rare genetic condition that can lead to psychosis, ADHD, and other conditions. The study identified two biomarkers, taurine and arachidonic acid, which could predict likelihood of psychosis in patien...

Study finds COVID-19 pandemic led to some, but not many, developmental milestone delays in infants and young children

A study by Johns Hopkins Children's Center found that the COVID-19 pandemic caused modest delays in developmental milestones for infants and young children. The researchers analyzed data from over 50,000 children aged 0-5 years and found small decreases in communication, problem-solving, and personal-social skills.

SourceJohns Hopkins Medicine·JournalPEDIATRICS·DateApr 22, 2024

Study eases concern at antipsychotics use in pregnancy

A new international study led by UNSW Sydney found no increased risk of neurodevelopmental disorders and learning difficulties after exposure to antipsychotics during pregnancy. The study tracked the long-term risk of intellectual disability, poor academic performance in maths and language, or learning, speech and language disorders.

SourceUniversity of New South Wales·JournalEClinicalMedicine·TypeObservational study·DateMar 18, 2024

Maternal health support critical in the development of children born to mothers with pre-existing diabetes

A meta-analysis by Associate Professor Diana Arabiat found that children born to mothers with pre-existing diabetes have lower mental and psychomotor development scores compared to those without previous exposure. This delay in psychomotor development can be related to numerous risk factors, including premature birth or intrauterine gr...

SourceEdith Cowan University·TypeMeta-analysis·DateMar 12, 2024

Study reveals key mechanisms of rare form of epilepsy

A study identifies a genetic mutation underlying KCNQ2 encephalopathy, a rare and devastating form of epilepsy. The research reveals key mechanisms by which the disorder manifests in patients, including suppression of normal gene function and altered protein distribution.

SourceeLife·JournaleLife·DateMar 12, 2024

Flexible artificial intelligence optoelectronic sensors towards health monitoring

Researchers from Tokyo University of Science developed a flexible paper-based sensor that operates like the human brain, enabling low-power and efficient health monitoring. The device can distinguish 4-bit input optical pulses and generate currents in response to time-series optical input, with rapid response times.

SourceTokyo University of Science·JournalAdvanced Electronic Materials·TypeExperimental study·DateMar 11, 2024

Lighting the way to noninvasive blood glucose monitoring using portable devices

A novel approach estimates metabolic activity and infers blood glucose levels from near-infrared measurements in commercial smartphones and smartwatches. The phase delay between oxyhemoglobin and deoxyhemoglobin signals closely relates to oxygen consumption during cardiac cycles, serving as a gauge for metabolism.

SourceSPIE--International Society for Optics and Photonics·JournalJournal of Biomedical Optics·DateMar 8, 2024

‘gene of prejudice’ demystifies autism

Scientists have identified the 'gene of prejudice' GTF2I as crucial in regulating social behavior. The gene's deletion or duplication leads to variations in personality, with individuals having either a 'cocktail party personality' or autistic traits. This research may lead to new treatments for autism and shed light on human sociality.

SourceUniversity of California - San Diego·JournalCell Reports·DateFeb 28, 2024

Latest research redefines neurodevelopmental risks, outcomes for congenital heart disease

A new American Heart Association scientific statement offers the latest knowledge on neurodevelopmental outcomes in people of all ages with congenital heart disease. The statement highlights that neurodevelopmental difficulties are common complications faced by individuals with congenital heart disease, affecting their ability to funct...

SourceAmerican Heart Association·JournalCirculation·DateFeb 22, 2024

Migrant and refugee children need early education supports too

Researchers found that childcare workers in informal creche settings need training to better support non-English speaking migrant and refugee children. The study showed that on-site professional learning improved emotional literacies and strategies for supporting these children, resulting in happier outcomes for families.

SourceUniversity of South Australia·JournalEarly Childhood Education Journal·TypeObservational study·DateFeb 13, 2024

How does social attention develop in autistic children?

Research reveals that autistic children develop their own unique visual preferences for social elements, unlike typically developing children who synchronize their attention on social interactions. Early intervention targeting social attention may help guide autistic children onto developmental courses more akin to their peers.

SourceUniversité de Genève·JournaleLife·TypeNews article·DateJan 11, 2024

Revolutionizing real-time data processing with edge computing and reservoir technology

Researchers at Tokyo University of Science develop an edge computing device that processes signals in real time using physical reservoir technology, achieving faster data processing and lower computation costs. The device demonstrates enhanced learning capabilities, making it promising for applications in edge computing.

SourceTokyo University of Science·JournalAdvanced Science·TypeExperimental study·DateJan 11, 2024

Moderation surpasses excess

The study identifies FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A, regulating its activity and cellular location. This finding may provide potential clinical insights into treating Down syndrome and related diseases.

SourceKyoto University·JournalLife Science Alliance·TypeExperimental study·DateDec 19, 2023

Children born moderately early are at an increased risk of developmental disorders, according to new research

A new study found that children born moderately early are at an increased risk of developmental disorders, including language delay, cognitive impairment, ADHD, and cerebral palsy. The study analyzed data from over 8 million children and identified a small but significant increase in risk for most developmental disorders.

SourceUniversity of York·JournalPEDIATRICS·TypeMeta-analysis·DateDec 7, 2023

Map of disease-causing mutations in neurodevelopmental disorders and cancer revealed

Researchers have created the first extensive map showing which genetic changes can cause disease, leading to valuable insights into neurodevelopmental disorders and cancer. The study reveals that 90% of previously unexplained genetic changes' impact on health is significant, promising speedier diagnosis and new treatment avenues.

SourceWellcome Trust Sanger Institute·JournalNature Communications·TypeExperimental study·DateDec 6, 2023

CHOP researchers define seizure burden, developmental outcomes for STXBP1-related disorders

A study by CHOP researchers found that seizure patterns and response to treatment can help determine epilepsy trajectories and developmental outcomes for patients with STXBP1-related disorders. The study identified key treatment windows and outcome measures that will inform the interpretation of clinical trial success.

SourceChildren's Hospital of Philadelphia·JournalBrain·TypeExperimental study·DateNov 28, 2023

New study reveals molecular causes of rare neurological condition in children

A new study has uncovered the molecular causes of a rare developmental brain condition in children, known as Autosomal Recessive ACBD6-related disorder. The research team identified defects in the acyl-CoA-binding domain-containing protein 6 (ACBD6) gene as the underlying cause, leading to delays in cognitive and motor skills development.

SourceUniversity of Portsmouth·JournalBrain·TypeExperimental study·DateNov 16, 2023

The autism-linked gene SYNGAP1 could impact early stages of human brain development, USC study reveals

A new USC study reveals that variants of the autism-linked gene SYNGAP1 can disrupt early brain development in the cortex, a region involved in higher-order cognitive functions. The research found that disease-causing variants of SYNGAP1 alter the cells' cytoskeletons and lead to disorganized neural circuits.

SourceKeck School of Medicine of USC·JournalNature Neuroscience·TypeExperimental study·DateNov 9, 2023

Researchers use AI to predict challenging behaviors common in profound autism

A study found that gastrointestinal and sleep issues may be connected to self-injury and aggression in adolescents diagnosed with profound autism. The researchers discovered a possible connection between these health issues and future challenging behaviors, predicting next-day behavior with over 80% accuracy.

SourceRensselaer Polytechnic Institute·JournalJournal of Personalized Medicine·TypeData/statistical analysis·DateNov 6, 2023

Optical-fiber based single-photon light source at room temperature for next-generation quantum processing

Scientists create a low-cost, room-temperature single-photon light source by doping optical fibers with ytterbium ions, paving the way for affordable quantum technologies. The innovation overcomes cooling system limitations, enabling applications in true random number generation, quantum communication and high-resolution image analysis.

SourceTokyo University of Science·JournalPhysical Review Applied·TypeExperimental study·DateNov 2, 2023

Research in the Special Issue of Journal of Pharmaceutical Analysis uncovers previously unexplored cellular mechanisms

Researchers have discovered new insights into microglia-astrocyte communication and its impact on intracerebral hemorrhage, as well as the testicular toxicity of triptolide. Additionally, a study on epicardial cells has identified key gene markers associated with cardiac regenerative therapy strategies.

SourceCactus Communications·JournalJournal of Pharmaceutical Analysis·TypeExperimental study·DateOct 16, 2023