Publications by authors named "Tara Sadoway"
The temporal and spatial coarseness of megafaunal fossil records complicates attempts to to disentangle the relative impacts of climate change, ecosystem restructuring, and human activities associated with the Late Quaternary extinctions. Advances in the extraction and identification of ancient DNA that was shed into the environment and preserved for millennia in sediment now provides a way to augment discontinuous palaeontological assemblages. Here, we present a 30,000-year sedimentary ancient DNA (sedaDNA) record derived from loessal permafrost silts in the Klondike region of Yukon, Canada.
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- Epilepsies are common neurological disorders influenced by genetics, but finding their precise genetic causes can be difficult due to their diverse nature.
- Researchers used whole-genome sequencing on 30 adults with unexplained developmental and epileptic encephalopathies, revealing genetic variations in 32.1% of the cohort.
- The study highlighted the discovery of both coding and non-coding tandem repeat expansions in patients with Lennox-Gastaut syndrome, emphasizing the value of whole-genome sequencing in uncovering rare genetic variations related to unexplained epilepsies.*
Our current understanding of autism is largely based on clinical experiences and research involving male individuals given the male-predominance in prevalence and the under-inclusion of female individuals due to small samples, co-occurring conditions, or simply being missed for diagnosis. There is a significantly biased 'male lens' in this field with autistic females insufficiently understood. We therefore conducted a systematic review to examine how sex and gender modulate brain structure and function in autistic individuals.
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- NEXMIF encephalopathy is linked to intellectual disability, autism, and epilepsy, primarily caused by pathogenic variants in the NEXMIF gene.
- The study involved 87 patients (63 females and 24 males) and identified a high prevalence of developmental delays and seizures, particularly in males, who exhibited more severe impairments.
- Key findings show that all identified NEXMIF variants lead to premature stop codons or damaging changes, predominantly occurring de novo, with some cases of somatic mosaicism in affected families.
Objective: Dravet syndrome (DS) is a rare cause of severe and pharmacoresistant epileptic encephalopathy. Stiripentol (STP) has a significant therapeutic benefit in the pediatric DS population. However, STP effects on adult patients have not been well studied.
View Article and Find Full Text PDFBackground: Nonallergic vasomotor rhinitis (NAVMR) has been considered a diagnosis by exclusion due to unknown mechanisms or lack of diagnostic biomarkers.
Methods: To determine clinical responses and biological pathways in NAVMR subjects challenged to cold dry air (CDA) in an environmental exposure chamber (EEC) pre- and posttreatment with azelastine/fluticasone (AzeFlu), 30 NAVMR subjects, prescreened for CDA-induced symptoms (approx. 14°C, <15% relative humidity, ×1 h) were randomized to treatment with AzeFlu (n = 20) or placebo (n = 10) for 2 weeks.