Dense home-based recordings reveal typical and atypical development of tense/aspect in a child with delayed language development.

Studies investigating the development of tense/aspect in children with developmental disorders have focused on production frequency and/or relied on short spontaneous speech samples. How children with developmental disorders use future forms/constructions is also unknown. The current study expands this literature by examining frequency, consistency, and productivity of past, present, and future usage, using the Speechome Recorder, which enables collection of dense, longitudinal audio-video recordings of children's speech. Samples were collected longitudinally in a child who was previously diagnosed with autism spectrum disorder, but at the time of the study exhibited only language delay [Audrey], and a typically developing child [Cleo]. While Audrey was comparable to Cleo in frequency and productivity of tense/aspect use, she was atypical in her consistency and production of an unattested future form. Examining additional measures of densely collected speech samples may reveal subtle atypicalities that are missed when relying on only few typical measures of acquisition.

Decoding polygenic diseases: advances in noncoding variant prioritization and validation.

Genome-wide association studies (GWASs) provide a key foundation for elucidating the genetic underpinnings of common polygenic diseases. However, these studies have limitations in their ability to assign causality to particular genetic variants, especially those residing in the noncoding genome. Over the past decade, technological and methodological advances in both analytical and empirical prioritization of noncoding variants have enabled the identification of causative variants by leveraging orthogonal functional evidence at increasing scale. In this review, we present an overview of these approaches and describe how this workflow provides the groundwork necessary to move beyond associations toward genetically informed studies on the molecular and cellular mechanisms of polygenic disease.

The gut microbiome defines social group membership in honey bee colonies.

In the honey bee, genetically related colony members innately develop colony-specific cuticular hydrocarbon profiles, which serve as pheromonal nestmate recognition cues. Yet, despite high intracolony relatedness, the innate development of colony-specific chemical signatures by individual colony members is largely determined by the colony environment, rather than solely relying on genetic variants shared by nestmates. Therefore, it is puzzling how a nongenic factor could drive the innate development of a quantitative trait that is shared by members of the same colony. Here, we provide one solution to this conundrum by showing that nestmate recognition cues in honey bees are defined, at least in part, by shared characteristics of the gut microbiome across individual colony members. These results illustrate the importance of host-microbiome interactions as a source of variation in animal behavioral traits.

Comparison of an Online-Only Parkinson's Disease Research Cohort to Cohorts Assessed In Person.

BACKGROUND: Online tools for data collection could be of value in patient-oriented research. The Fox Insight (FI) study collects data online from individuals with self-reported Parkinson's disease (PD). Comparing the FI cohort to other cohorts assessed through more traditional (in-person) observational research studies would inform the representativeness and utility of FI data. OBJECTIVE: To compare self-reported demographic characteristics, symptoms, medical history, and PD medication use of the FI PD cohort to other recent observational research study cohorts assessed with in-person visits. METHODS: The FI PD cohort (n = 12,654) was compared to 3 other cohorts, selected based on data accessibility and breadth of assessments: Parkinson's Progression Markers Initiative (PPMI; PD n = 422), Parkinson's Disease Biomarker Program (PDBP; n = 700), and PD participants in the LRRK2 consortium without LRRK2 mutations (n = 508). Demographics, motor and non-motor assessments, and medications were compared across cohorts. Where available, identical items on surveys and assessments were compared; otherwise, expert opinion was used to determine comparable definitions for a given variable. RESULTS: The proportion of females was significantly higher in FI (45.56%) compared to PPMI (34.36%) and PDBP (35.71%). The FI cohort had greater educational attainment as compared to all other cohorts. Overall, prevalence of difficulties with motor experiences of daily living and non-motor symptoms in the FI cohort was similar to other cohorts, with only a few significant differences that were generally small in magnitude. Missing data were rare for the FI cohort, except on a few variables. DISCUSSION: Patterns of responses to patient-reported assessments obtained online on the PD cohort of the FI study were similar to PD cohorts assessed in-person.

Aortic arch and descending thoracic aortic aneurysms: experience with stent grafting for second-stage "elephant trunk" repair.

Reconstruction of aortic arch and descending thoracic aortic aneurysms (TAAs) is technically challenging and associated with significant morbidity and mortality. We report our experience with extensive TAAs using a two-stage "elephant trunk" repair, with the second stage completed using an endovascular stent graft (ESG). Over 6 years, 111 patients underwent ESG treatment of TAAs at Mount Sinai Medical Center. Twelve of these patients were referred for ESG placement for the second stage of elephant trunk reconstruction because comorbidities placed them at high risk of open surgical repair. Our database was analyzed for technical and clinical success and perioperative complications. The mean follow-up was 11.8 months (range 1-64 months). Twelve patients (five women and seven men) with a mean age of 69 +/- 10 years underwent repair of their distal aortic arch and descending TAAs. These aneurysms included nine atherosclerotic aneurysms, one pseudoaneurysm, and two penetrating atherosclerotic ulcers. Three patients were symptomatic. Stent graft repair was technically successful in 91.7% or 11 of 12 patients. Excessive aortic arch tortuosity resulted in failure to deploy a stent graft in one patient. An antegrade approach through the open elephant trunk was used in two patients with severe iliac occlusive disease. Endoleaks (type 2) were identified in two patients with no aneurysm expansion; however, a 14 mm expansion over 1 year occurred in a patient with no identifiable endoleak. One early mortality occurred in a patient with a ruptured 6 cm infrarenal AAA after successful exclusion of the 8 cm TAA. Second-stage elephant trunk reconstruction of an extensive TAA using an ESG is effective in the short term. Its long-term durability remains to be determined.