With the support of the NIH’s National Institute of Child Health and Human Development and the National Institute of Mental Health, researchers at Duke University’s Center for Autism and Brain Development have developed a mobile app that can quickly screen toddlers for autism spectrum disorder without the need for specialized skills.
Collectively, lysosomal storage disorders (LSDs) are caused by malfunctions in metabolic enzymes in the lysosome system. Depending on which enzyme is missing, toxic metabolites accumulate. While the LSDs are highly heterogenous – even within one disease, presentation can vary widely – neurodegeneration is a common feature in these disorders.
In the last decade, responsive neurostimulation (RNS) has become a mainstay of treatment for refractory focal epilepsy, but challenges with the technology remain. Researchers at Columbia University in New York appear to have overcome some of the major limitations through development of a compact, flexible, high performance implantable device that permits reading and manipulation of brain circuits.
The discovery of synthetic lethality between BRCA mutations and PARP inhibitors ranks has led to major advances in the treatment of BRCA-mutated cancers. Mutations in BRCA1 and BRCA2 can leave cells with a deficiency in homologous repair (HR). And that deficiency can make them vulnerable to PARP inhibitors, which block alternate DNA repair pathways, as well as platinum-based treatment, which induces DNA mutations that BRCA-deficient cells are unable to cope with.
Using advanced intravital microscopy to visualize immune cell movement within the tissues, investigators at the Peter Doherty Institute for Infection and Immunity, Melbourne have discovered that the neurotransmitter noradrenaline produced by the sympathetic nervous system causes a dramatic paralysis of immune cell movement.
Researchers have gained new insights into what makes for transplantable livers – and what doesn’t. In a clinical trial of 12 livers, a team from Massachusetts General Hospital showed that both livers with high fat content and those without could be viable for transplantation.
Keeping you up to date on recent developments in neurology, including: Detecting brain damage in babies earlier with new infrared scanner; VR treatment for PTSD to be evaluated in clinical trial; NIH study identifies diverse spectrum of neurons that govern movement.
Keeping you up to date on recent developments in diagnostics, including: Urine test could reduce prostate cancer biopsies; Neurons forget who they are in Alzheimer’s disease; Sensor can predict hallucinogenic serotonin receptor effects.
Twenty years after the first, exclusively white human genomes were fully sequenced, science finds itself in the same position as the rest of society: with the uncomfortable realization that old inequalities are often morphing, rather than disappearing. Vocal racists – scientists of the stripe of a James Watson – are by no means a thing of the past. But they are only the tip of the iceberg.
Keeping you up to date on recent developments in orthopedics, including: Skin and bones repaired by bioprinting during surgery; Researchers use AI to detect wrist fractures; Smart Score quantifies clinical outcomes for shoulder arthroplasty patients.