Publications by authors named "Dore R"

We investigated the impact of parents' open-ended questions during collaborative science activities. Specifically, we randomly assigned 116 parents (69.8% mothers; 89.

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Researchers argue that theory of mind (ToM) abilities are needed for text (listening or reading) comprehension. Although many studies have supported this claim, findings are mixed and researchers have disagreed on how fundamental this relation is-for example, whether ToM and text comprehension are related merely because of shared variance with verbal and executive function skills. To address these issues more definitively, we conducted a meta-analysis examining ToM and text comprehension, which included 47 independent samples with 5,123 participants ranging in age from 3 to 70 years of age ( = 10.

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In gaining word knowledge, children's semantic representations are initially imprecise before becoming gradually refined. We developed and tested a framework for a digital receptive vocabulary assessment that captured varied levels of representation as children learn words. At pre-test and post-test, children selected one of four images to match a word's meaning: a correct target, a conceptually-related foil, a thematically-related foil, and a phonologically-similar foil.

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  • Thyroid disease impacts energy metabolism, temperature control, and anxiety, primarily through thyroid hormone receptor α1 (TRα1) in the brain, but the exact brain areas involved remain unclear.
  • Researchers used PET-CT scans to find the most affected brain region, the zona incerta (ZI), and inhibited TRα1 signaling there to study its effects on metabolism and behavior in mice.
  • The inhibition led to increased energy expenditure without affecting body temperature regulation, and heightened glucocorticoid levels were observed, indicating a link between altered thyroid hormone signaling in the ZI and stress responses, but not temperature control.
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  • Thyroid hormone significantly influences cardiovascular functions, particularly heart rate, through both direct genetic mechanisms and indirect effects on the autonomic nervous system.
  • The review examines recent findings regarding the roles of different thyroid hormone receptor isoforms in heart rate regulation, questioning the traditional view that pacemaker channel genes Hcn2 and Hcn4 are the only mediators of these effects.
  • It also highlights the importance of considering long-term impacts of altered thyroid hormone action during development on both heart and brain functions in experimental designs.
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  • Mutations in a specific gene are linked to Gaucher disease and significantly increase the risk for Parkinson's disease, but studying this gene is challenging due to its similar pseudogene.
  • By using long-read RNA sequencing, researchers were able to differentiate and quantify expression levels between the gene and its pseudogene, finding previously unrecognized transcripts.
  • The study revealed that many transcripts from both genes do not have the known lysosomal functions, indicating they may have other roles in the brain, which could change how we understand their impact on health and disease.
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Background: Blood pressure is a vital hemodynamic marker during the neonatal period. However, normative values are often derived from small observational studies. Understanding the normative range would help to identify ideal thresholds for intervention to treat hypotension or hypertension.

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  • Thyroid hormones influence heart functions by binding to specific receptors, primarily TRα1 and TRβ, but the role of TRβ is not well understood due to complications from hyperthyroidism in TRβ knockout mice (TRβ-KO).
  • Researchers studied TRβ-KO mice at controlled temperatures to eliminate hyperthyroid effects, finding normal heart rates but impaired parasympathetic activity, particularly at lower temperatures.
  • T3 treatment caused tachycardia in wild-type mice, but TRβ-KO mice showed a limited response, revealing TRβ’s important but less understood role in heart function at thermoneutrality.
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Primary ciliary dyskinesia (PCD) is a rare, chronic genetic condition with variable features arising from motile cilia dysfunction, including recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. The aim of the study was to understand the experiences of young people with PCD as they transition into adulthood and adult healthcare services. An interpretative phenomenological analytical method was applied.

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  • Thyroid hormones play a crucial role in regulating body temperature and energy metabolism, with medical conditions like hyperthyroidism and hypothyroidism directly affecting these processes.
  • Recent research highlights the roles of specific thyroid hormone receptors, particularly TRα1 and TRβ, in body temperature regulation, although the exact functions and brain areas involved are still unclear.
  • Experiments using mutant TRα1 mice and TRβ knockouts showed that TRα1 is vital for maintaining body temperature, with T3 treatment being effective in normalizing temperature in mutant mice, indicating it's crucial for setting the central temperature in the hypothalamus.
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There is increasing recognition regarding the need to represent ethnic diversity within dermatology education. Past evaluation of dermatology textbooks has demonstrated that depiction of dark skin makes up to 4.5%-19.

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The COVID-19 pandemic changed the delivery of healthcare within the United Kingdom. A virtual model of care, utilising telephone and video consultations, was rapidly imposed upon cancer genetics teams. This large-scale change in service delivery has led to new opportunities that can be harnessed to improve patient care.

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Objective: To evaluate the regional variation of cost sharing and associations with rheumatoid arthritis (RA) disease burden in the US.

Methods: Patients with RA from rheumatology practices in Northeast, South, and West US regions were evaluated. Sociodemographics, RA disease status, and comorbidities were collected, and Rheumatic Disease Comorbidity Index (RDCI) score was calculated.

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Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart. Surprisingly, we report that treatment of RTHα patients with thyroxine to overcome tissue hormone resistance does not elevate their heart rate. Cardiac telemetry in male, TRα1 mutant, mice indicates that such persistent bradycardia is caused by an intrinsic cardiac defect and not due to altered autonomic control.

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Background: An aberrant subclavian artery (ASA) (or lusoria) is the most common congenital anomaly of the aortic arch (0.5%-2.2%; female-to-male ratio 2:1 to 3:1).

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Objective: Our objective was to evaluate the factors associated with regional variation of rheumatoid arthritis (RA) disease burden in the US.

Methods: In a retrospective cohort analysis of Rheumatology Informatics System for Effectiveness (RISE) registry data, seropositivity, RA disease activity (Clinical Disease Activity Index [CDAI], Routine Assessment of Patient Index Data-version 3 [RAPID3]), socioeconomic status (SES), geographic region, health insurance type, and comorbidity burden were recorded. An Area Deprivation Index score of more than 80 defined low SES.

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The European Society of Human Genetics—Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries. In this report, we present the ESHG-Y projects conducted since its conception. We organized the educational sessions at the ESHG Annual Conference, the European Dysmorphology Meetings, and a virtual session in collaboration with the European Board of Medical Genetics (EBMG).

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  • The study investigates how thyroid hormone and its receptor TRα1 influence brain development, particularly in the hypothalamus, using a mouse model with a specific mutation that causes hypothyroidism.
  • Researchers used single-nucleus RNA sequencing to analyze the effects of defective TRα1 signaling, finding it notably impacts hypothalamic oligodendrocytes but not other neuronal populations.
  • The results highlight the importance of early postnatal thyroid hormone for the maturation of hypothalamic oligodendrocytes and provide insights into the role of thyroid health in brain development.
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Objectives: More than a year has passed since the initial outbreak of SARS-CoV-2, which caused many hospitalizations worldwide due to COVID-19 pneumonia and its complications. However, there is still a lack of information detailing short- and long-term outcomes of previously hospitalized patients. The purpose of this study is to analyze the most frequent lung CT findings in recovered COVID-19 patients at mid-term follow-ups.

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Children learn about much of the world through testimony and may hear explicit belief statements (e.g., "I believe in God" or "climate change is real") about entities whose existence is controversial.

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Nesfatin-1, the cleavage product of nucleobindin-2, is an anorexigenic peptide and major regulator of energy homeostasis. Beyond reducing food intake and increasing energy expenditure, it is also involved in regulating the stress response. Interaction of nucleobindin-2/nesfatin-1 and glucose homeostasis has been observed and recent findings suggest a link between the action of the antidiabetic drug metformin and the nesfatinergic system.

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In patients with healed myocardial infarction, the left ventricular ejection fraction is characterized by low sensitivity and specificity in the prediction of future malignant arrhythmias. Thus, there is the need for new parameters in daily practice to perform arrhythmic risk stratification. The aim of this study is to identify some features of proarrhythmic geometric configurations of scars and border zones (BZ), by means of numerical simulations based on left ventricular models derived from post myocardial infarction patients.

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Objective: Comorbidities in rheumatoid arthritis (RA) can influence treatment selection, impact treatment persistency, and increase health care costs. This study assessed the magnitude of comorbidity burden via epidemiology (incidence and prevalence) and associated costs of select comorbidities in RA patients: anemia, malignancy, venous thromboembolism (VTE), major adverse cardiovascular events (MACE), and infections, stratified by history of disease-modifying antirheumatic drug (DMARD) exposure.

Methods: From the IQVIA PharMetrics® Plus database, we selected adult patients with RA (2 or more RA diagnostic codes at least 30 days apart) at initiation of a new DMARD (DMARD-naïve), after the first conventional synthetic DMARD (csDMARD) or after the first biologic DMARD (bDMARD).

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Factors that make stories more or less similar to children's lives may influence learning. One such factor, the similarity of characters in a story to its readers, may influence learning because of children's social preference for similar others, because of stronger identification with similar characters, or because some types of similarity may indicate to children whether the story is relevant to their lives. The current studies examined the effects of two types of character similarity (race and gender) on 6- to 8-year-olds' learning from stories to begin to disambiguate these possibilities.

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