Results 141 to 150 of about 506,199 (276)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa   +2 more
wiley   +1 more source

Factor Analysis‐Based Quantitative Endotyping Improves Associations With CRS Cross‐Sectional and Longitudinal Outcomes

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disease characterized by persistent sinonasal inflammation. There is increasing interest in endotype‐based classification, which categorizes CRS based on underlying inflammatory pathways.
Brooke N. Gleason   +16 more
wiley   +1 more source

Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1‐Linked Amyotrophic Lateral Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective Tofersen is the first effective and approved therapy for superoxide dismutase 1 (SOD1)‐associated amyotrophic lateral sclerosis (ALS [SOD1‐ALS]). Following treatment with tofersen, neurofilament levels in patients' cerebrospinal fluid (CSF) and serum seem to respond earlier than clinical parameters.
Christina Steffke   +36 more
wiley   +1 more source

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

open access: yesAnnals of Neurology, EarlyView.
rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury. However, loss of NF2 leads to a reduction in NRGβ1‐expression and increased ErbB2 levels on Schwann cells (in green), which contributes to schwannoma ...
Julia P. Bischoff   +7 more
wiley   +1 more source

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