Spinal Involvement in Charge Syndrome: Implications for Management
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Here, we introduce a molecular design principle that fundamentally expands the bottom‐up synthesis of single‐atom catalysts (SACs). Coordinatively flexible polypyridyl units enable bottom‐up formation of ordered carbonaceous frameworks containing atomically dispersed Ru (∼11 wt%) by simple carbonization.
Koki Chida +13 more
wiley +2 more sources
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators
The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia +20 more
wiley +2 more sources
Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme
ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald +3 more
wiley +1 more source
The Multidisciplinary Approach to Enhanced Recovery After Surgery in Colorectal Cancer: An Updated Narrative Review. [PDF]
Bourazani M, Dafnis AN, Syrogianni PA.
europepmc +1 more source
Effects of an Inpatient Program on Medication Errors in Hospitalized People with Parkinson's Disease
Objective Hospitalized people with Parkinson's disease (PwP) face increased risks of medication errors and discharge to non‐home settings, both of which are associated with adverse outcomes. This study assessed differences in medication error rates and discharge outcomes before and after implementation of a dedicated inpatient program for hospitalized ...
Camila C. Piccinin +15 more
wiley +1 more source
pH‐Responsive Ultrasmall Iron Oxide Nanoassemblies for Activatable T2/T1 Magnetic Resonance Imaging
This research reports a pH‐responsive ultrasmall iron oxide nanoparticle (USIONs)/polymer nanoassemblies for activatable magnetic resonance imaging. Amphiphilic diphosphonic acid block copolymers compactly encapsulate USIONs to generate T2‐weighted contrast at physiological pH, while acidic conditions trigger disassembly, activating T1‐weighted ...
Xumin Huang +11 more
wiley +1 more source
The lung cancer pathway: seven years of evaluation of multidisciplinary pre-operative management and workflow optimization. [PDF]
Nocera A +12 more
europepmc +1 more source
Clinical and Patient-Reported Outcomes Following Multidisciplinary Management of Cancer-Related Pain: Protocol for a Prospective Observational Pre-Post Study. [PDF]
Amate Pena JJ +6 more
europepmc +1 more source

