UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.

Published reports from the CDC's Autism and Development Disabilities Monitoring Networks have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to have ASD in 2018. Many of the ASDs exhibiting varying degrees of autism-like phenotypes have chromosomal anomalies in the Chr15q11-q13 region.

Role of miRNAs in Neurodegeneration: From Disease Cause to Tools of Biomarker Discovery and Therapeutics.

Neurodegenerative diseases originate from neuronal loss in the central nervous system (CNS). These debilitating diseases progress with age and have become common due to an increase in longevity. The National Institute of Environmental Health Science's 2021 annual report suggests around 6.

Electronic health record usability and workload changes over time for provider and nursing staff following transition to new EHR.

The ubiquity of EHRs in healthcare means that small EHR inefficiencies can have a major impact on clinician workload. We conducted a sequential explanatory mixed methods study to: 1) identify EHR-associated workload and usability effects for clinicians following an EHR change over time, 2) determine workload and usability differences for providers (MD and Advance Practice Nurses) versus nurses (RNs and MAs), 3) determine if usability predicts workload, 4) identify potential sources of EHR design flaws. Workload (NASA-Task Load Index) and usability (System Usability Scale) measures were administered pre, 6-8 month and 30-32 months post-implementation.

An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT and Dopamine Pathway Activation as Potential Therapies.

Background: Duplication 15q (Dup15q) syndrome is a rare neurogenetic disorder characterized by autism and pharmacoresistant epilepsy. Most individuals with isodicentric duplications have been on multiple medications to control seizures. We recently developed a model of Dup15q in Drosophila by elevating levels of fly Dube3a in glial cells using repo-GAL4, not neurons.

A multidisciplinary approach to designing and evaluating Electronic Medical Record portal messages that support patient self-care.

We describe a project intended to improve the use of Electronic Medical Record (EMR) patient portal information by older adults with diverse numeracy and literacy abilities, so that portals can better support patient-centered care. Patient portals are intended to bridge patients and providers by ensuring patients have continuous access to their health information and services. However, they are underutilized, especially by older adults with low health literacy, because they often function more as information repositories than as tools to engage patients.

Interactions between Tau and α-synuclein augment neurotoxicity in a Drosophila model of Parkinson's disease.

Clinical and pathological studies have suggested considerable overlap between tauopathies and synucleinopathies. Several genome-wide association studies have identified alpha-Synuclein (SNCA) and Tau (MAPT) polymorphisms as common risk factors for sporadic Parkinson's disease (PD). However, the mechanisms by which subtle variations in the expression of wild-type SNCA and MAPT influence risk for PD and the underlying cellular events that effect neurotoxicity remain unclear.

TDP-43 Phosphorylation by casein kinase Iε promotes oligomerization and enhances toxicity in vivo.

Dominant mutations in transactive response DNA-binding protein-43 (TDP-43) cause amyotrophic lateral sclerosis. TDP-43 inclusions occur in neurons, glia and muscle in this disease and in sporadic and inherited forms of frontotemporal lobar degeneration. Cytoplasmic localization, cleavage, aggregation and phosphorylation of TDP-43 at the Ser409/410 epitope have been associated with disease pathogenesis.

Neurodegenerative models in Drosophila: polyglutamine disorders, Parkinson disease, and amyotrophic lateral sclerosis.

Neurodegenerative diseases encompass a large group of neurological disorders. Clinical symptoms can include memory loss, cognitive impairment, loss of movement or loss of control of movement, and loss of sensation. Symptoms are typically adult onset (although severe cases can occur in adolescents) and are reflective of neuronal and glial cell loss in the central nervous system.

Metamorphosis of an identified serotonergic neuron in the Drosophila olfactory system.

Background: Odors are detected by sensory neurons that carry information to the olfactory lobe where they connect to projection neurons and local interneurons in glomeruli: anatomically well-characterized structures that collect, integrate and relay information to higher centers. Recent studies have revealed that the sensitivity of such networks can be modulated by wide-field feedback neurons. The connectivity and function of such feedback neurons are themselves subject to alteration by external cues, such as hormones, stress, or experience.