Publications by authors named "Blair E"

Objective: To describe the prevalence, clinical findings, lesions, and risk factors associated with chlamydial infections in free-ranging raptors presented to a university veterinary medical teaching hospital.

Methods: Medical records retrospectively searched for raptors admitted from January 1993 through April 2022 were tested for Chlamydia spp infections using quantitative PCR (qPCR), immunohistochemistry, culture, and sequencing. Findings were collected and analyzed.

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RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.

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Macroglossia can be seen in multiple conditions, but its evaluation becomes more challenging when approached as an isolated presenting symptom. This is a case of a 65-year-old patient with isolated progressive tongue hypertrophy of unclear etiology for 5 years. We navigate the causes of macroglossia and discuss the clinical and diagnostic procedures that helped us narrow the differential diagnoses for our patient.

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  • * These sites reveal some of the earliest year-round Native American villages in the Eastern Woodlands of North America, containing artifacts like pottery and faunal remains along with the shells.
  • * Research shows that these communities thrived for over 1000 years, adapting to changing sea levels that influenced their fishing practices, particularly targeting oyster reefs.
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  • Adenoid cystic carcinoma is a rare type of cancer that can happen in the outer ear canal.
  • Sometimes, it can look like another type of skin cancer called sebaceous carcinoma, which makes it even rarer.
  • In this case, doctors used images and tests to confirm the diagnosis, showing it had special features that were unusual for this kind of cancer.
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Encouraging agricultural landowners to adopt conservation practices is crucial to enhancing ecosystem services in privately-owned farm landscapes. To improve engagement with landowners and increase adoption rates, much research has been dedicated to investigating how different psychological, social, economic, and political factors correlate with adoption. However, these studies largely measure adoption as a discrete, binary event.

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Cetuximab induces responses in about 13% of head and neck squamous cell carcinomas (HNSCC). We describe the molecular mechanism of acquired resistance to cetuximab, which could be overcome by switching to a different anti-EGFR antibody. Biopsies were collected at three different time points: before the start of cetuximab (PRE-cetux), at acquired resistance to cetuximab (AR-cetux), and at acquired resistance to duligotuzumab (AR-duligo).

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  • * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
  • * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
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Anaerobic microbial communities are often highly degradative, such as those found in the herbivore rumen and large-scale anaerobic digesters. Since the microbial communities in these systems degrade recalcitrant organic polymers, we hypothesize that some microbes in anaerobic environments may be involved in man-made plastic association, deformation, or even breakdown. While efforts have been put toward characterizing microbial communities, many microbes remain unidentified until they can be sufficiently cultivated to generate enough genetic material to assemble high-quality metagenome assemblies and reference genomes.

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Importance: Immune checkpoint inhibitors improve survival in recurrent and/or metastatic head and neck cancer, yet their role in curative human papillomavirus-positive oropharyngeal cancer (HPV+ OPC) remains undefined. Neoadjuvant nivolumab and chemotherapy followed by response-adaptive treatment in HPV+ OPC may increase efficacy while reducing toxicity.

Objective: To determine the deep response rate and tolerability of the addition of neoadjuvant nivolumab to chemotherapy followed by response-adapted locoregional therapy (LRT) in patients with HPV+ OPC.

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Background And Objectives: Mild cognitive impairment (MCI) affects up to 22% of US older adults aged 65 and older. Research suggests that physicians may recommend less cardiovascular disease (CVD) treatment for older adults with MCI due to assumptions about their preferences. To delve into the disparity between patient preferences and physician assumptions in CVD treatment recommendations, we conducted a multi-site qualitative study to explore the underlying reasons for this discrepancy, providing insights into potential communication barriers and strategies to enhance patient-physician relationships.

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  • This study investigates the role of inversions—structural variants that involve the rearrangement of DNA—in genetic diseases, using data from 33,924 families involved in the 100,000 Genomes Project.
  • Researchers identified 47 ultra-rare rearrangements, including de novo inversions, in genes linked to disease, with analyses correlating genetic findings to clinical outcomes in some cases, including a specific diagnosis for three family members.
  • The findings suggest that while inversions are less common in genetic diseases compared to other structural variants, they can significantly contribute to the etiology in approximately 1 in 750 families with rare conditions.
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Despite the high prevalence of low birth weight infants in sub-Saharan Africa and the associated poor outcomes, weight change during the newborn period has not been well characterized for this population. We prospectively assessed growth over the first 30 days among 120 infants born < 2000 g (g) in Guinea-Bissau and Uganda, and compared it to a similar cohort of 420 infants born ≥ 2000 g. Among those born < 2000 g, mean birth weight was 1747 ± 164 g, and initial weight loss was 8.

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Autoinfarction of a parathyroid adenoma can have an atypical clinicoradiologic features that can mimic an inflammatory process or malignancy. In addition, the associated fibrosis makes surgical resection more challenging than for regular parathyroid adenomas. The implications of these findings are that while autoinfarction of parathyroid adenomas is a rare phenomenon, this entity should be considered when there are heterogeneous and cystic components on imaging in patients without hypercalcemia.

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We present new chronologies that inform the timing and tempo of shell ring and shell mound construction on the South Atlantic Bight. Our project combines recently acquired dates with legacy radiocarbon dates from over 25 rings and mounds to provide a higher-resolution chronology regarding the occupation and formation of this larger landscape of the earliest fishing villages along the East Coast of the United States. We resolve the ordering and timing of occupation of these rings and mounds through Bayesian statistical modeling.

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  • Several lines of evidence suggest that the hippocampus is crucial in Autism Spectrum Disorders (ASD), showing altered volume and memory deficits.
  • Mouse models reveal that hippocampal dysfunction contributes to social memory issues in ASD, linked with decreased synaptic plasticity and involvement of chondroitin sulfate proteoglycans (CSPGs).
  • RNA sequencing of postmortem hippocampal samples from children with ASD uncovered significant changes in gene expression tied to neurodevelopment, synaptic regulation, and immune signaling, highlighting altered astrocyte morphology and immune responses.
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Marine macroalgae produce abundant and diverse polysaccharides, which contribute substantially to the organic matter exported to the deep ocean. Microbial degradation of these polysaccharides plays an important role in the turnover of macroalgal biomass. Various members of the -- (PVC) superphylum are degraders of polysaccharides in widespread anoxic environments.

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Purpose: The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia (MEN), and von Hippel-Lindau. Here, we report disclosure processes, manifestation of AF-related disease, outcomes, and costs.

Methods: An observational study in an area representing one-fifth of England.

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Molecular quantum-dot cellular automata (QCA) is a low-power computing paradigm that may offer ultra-high device densities and THz-speed switching at room temperature. A single mixed-valence (MV) molecule acts as an elementary QCA device known as a cell. Cells coupled locally via the electrostatic field form logic circuits.

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  • Whole genome sequencing (WGS) is being increasingly used to diagnose rare diseases, but traditional methods often have low diagnostic yields, typically 25-30%.
  • In a study involving 122 rare disease patients and their relatives, a comprehensive bioinformatics approach led to a diagnostic yield of 35%, with 39% solved when including novel gene candidates.
  • The study also identified several novel genes, expanded the phenotypic understanding of existing conditions, and resulted in critical changes to clinical diagnoses and treatments for some patients.
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COVID-19 disrupted the ecology of schools and negatively influenced teacher mental health and retention. This mixed-methods study investigates the relationship between teacher well-being and teacher collegial relationships after a year enduring COVID-19 pandemic disruptions. By analyzing data collected through surveys ( = 185) and interviews ( = 27) with U.

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PCR has been a reliable and inexpensive method for nucleic acid detection in the past several decades. In particular, multiplex PCR is a powerful tool to analyze many biomarkers in the same reaction, thus maximizing detection sensitivity and reducing sample usage. However, balancing the amplification kinetics between amplicons and distinguishing them can be challenging, diminishing the broad adoption of high order multiplex PCR panels.

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Anaerobic gut fungi (AGF) have potential to valorize lignocellulosic biomass owing to their diverse repertoire of carbohydrate-active enzymes (CAZymes). However, AGF metabolism is poorly understood, and no stable genetic tools are available to manipulate growth and metabolic flux to enhance production of specific targets, e.g.

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Objective: To examine the differences in opioid prescribing by cognitive status following common elective surgical procedures among Medicare beneficiaries.

Background: Older individuals commonly experience changes in cognition with age. Although opioid prescribing is common after surgery, differences in opioid prescribing after surgery by cognitive status are poorly understood.

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