152 research outputs found

    An Assessment of Factors Motivating Patients to Seek Orthodontic Treatment in a South-Western Nigerian Teaching Hospital

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    Background: Motivation is a concept that describes the conscious or unconscious stimuli for the action toward a desired goal. The motivations for seeking an orthodontic treatment among the population are diverse. Identifying the underlying motivation for treatment is helpful in reducing dissatisfaction with orthodontic treatment outcome. Aim: This study aimed to assess motivating factors for seeking orthodontic treatment and to compare these factors between adolescents and adults attending a Nigerian teaching hospital. Patients, Materials and Methods: Self‑administered questionnaires were distributed among 130 subjects (79 adolescents and 51 adults). The subjects were asked to assign a score to the motivating factors listed based on their relative importance using a 5‑point Likert scale which ranged from 1 to 5, with 5 rated as very important and 1 rated as very unimportant. The choice of motivating factors was compared between the adolescents and adults and between sexes in each group. Data obtained were analyzed using IBM Statistical Package for Social Sciences (IBM SPSS) version 21.0. P ≤ 0.05 was considered statistically significant. Results: Improvement in dental appearance was the main motivating factor for almost all subjects and there was no statistically significant difference between adolescents (60.8%) and adults (68.6%), P = 0.591. A significantly higher (P < 0.001) number of the adults, (35, 68.6%) chose improvement in facial aesthetics as a motivating factor for orthodontic treatment compared with 29 (44.6%) adolescents. The least motivating factors which were chosen by adolescents were improvement in chewing (9, 13.8%) and relief of temporomandibular joint symptoms (4, 6.2%). There was no statistically significant difference in the choice of motivating factors between female and male in both the adolescent and adult groups. Conclusion: Aesthetic concerns were the most important motivating factors in adolescents and adults seeking orthodontic treatment

    Orthodontic Treatment Need and Complexity among Nigerian Adolescents in Rivers State, Nigeria

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    Introduction. The assessment of orthodontic treatment need and complexity are necessary for informed planning of orthodontic services. The aim of this cross-sectional study was to assess these parameters using the Index of Complexity, Outcome, and Need (ICON) in a Nigerian adolescent population in a region where orthodontic services are just being established. Methods. Six hundred and twelve randomly selected Nigerian adolescents aged 12 to 18 years were examined using the ICON in their school compounds. Descriptive statistics were employed in the data analysis. Results. Out of a total of 38.1% of the population found to need orthodontic treatment, there were more males and older adolescents. The overall mean ICON score for the population was 39.7 ± 25.3 SD with males having statistically higher mean ICON score. The grades of complexity of the population were 21.6% for very difficult and difficult, 7.5% moderate, and 70.9% mild/easy. Conclusions. Although just over a third of the adolescents were found to have a need for treatment, about a quarter of them were found to have difficult and very difficult complexity grades indicating a need for specialist care. The authors recommend the training of more specialist orthodontists in this region

    pynucastro 2.1: an update on the development of a python library for nuclear astrophysics

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    pynucastro is a python library that provides visualization and analyze techniques to classify, construct, and evaluate nuclear reaction rates and networks. It provides tools that allow users to determine the importance of each rate in the network, based on a specified list of thermodynamic properties. Additionally, pynucastro can output a network in C++ or python for use in simulation codes, include the AMReX-Astrophysics simulation suite. We describe the changes in pynucastro since the last major release, including new capabilities that allow users to generate reduced networks and thermodynamic tables for conditions in nuclear statistical equilibrium

    Leveraging genomics to understand threats in a migratory waterbird

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    Understanding how risk factors affect populations across their annual cycle is a major challenge for conserving migratory birds. For example, disease outbreaks may happen on the breeding grounds, the wintering grounds, or during migration and are expected to accelerate under climate change. The ability to identify the geographic origins of impacted individuals, especially outside of breeding areas, might make it possible to predict demographic trends and inform conservation decision-making. However, such an effort is made more challenging by the degraded state of carcasses and resulting low quality of DNA available. Here, we describe a rapid and low-cost approach for identifying the origins of birds sampled across their annual cycle that is robust even when DNA quality is poor. We illustrate the approach in the common loon (Gavia immer), an iconic migratory aquatic bird that is under increasing threat on both its breeding and wintering areas. Using 300 samples collected from across the breeding range, we develop a panel of 158 single-nucleotide polymorphisms (SNP) loci with divergent allele frequencies across six genetic subpopulations. We use this SNP panel to identify the breeding grounds for 142 live nonbreeding individuals and carcasses. For example, genetic assignment of loons sampled during botulism outbreaks in parts of the Great Lakes provides evidence for the significant role the lakes play as migratory stopover areas for loons that breed across wide swaths of Canada, and highlights the vulnerability of a large segment of the breeding population to botulism outbreaks that are occurring in the Great Lakes with increasing frequency. Our results illustrate that the use of SNP panels to identify breeding origins of carcasses collected during the nonbreeding season can improve our understanding of the population-specific impacts of mortality from disease and anthropogenic stressors, ultimately allowing more effective management.Published versio

    A large, curated, open-source stroke neuroimaging dataset to improve lesion segmentation algorithms.

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    Accurate lesion segmentation is critical in stroke rehabilitation research for the quantification of lesion burden and accurate image processing. Current automated lesion segmentation methods for T1-weighted (T1w) MRIs, commonly used in stroke research, lack accuracy and reliability. Manual segmentation remains the gold standard, but it is time-consuming, subjective, and requires neuroanatomical expertise. We previously released an open-source dataset of stroke T1w MRIs and manually-segmented lesion masks (ATLAS v1.2, N = 304) to encourage the development of better algorithms. However, many methods developed with ATLAS v1.2 report low accuracy, are not publicly accessible or are improperly validated, limiting their utility to the field. Here we present ATLAS v2.0 (N = 1271), a larger dataset of T1w MRIs and manually segmented lesion masks that includes training (n = 655), test (hidden masks, n = 300), and generalizability (hidden MRIs and masks, n = 316) datasets. Algorithm development using this larger sample should lead to more robust solutions; the hidden datasets allow for unbiased performance evaluation via segmentation challenges. We anticipate that ATLAS v2.0 will lead to improved algorithms, facilitating large-scale stroke research

    Burden of Gastrointestinal Disease in the United States: 2012 Update

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    Gastrointestinal (GI) diseases account for substantial morbidity, mortality and cost. Statistical analyses of the most recent data are necessary to guide GI research, education and clinical practice. We estimate the burden of GI disease in the US

    Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

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    BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. METHODS: Whole-genome sequencing was performed on DNA from patients with idiopathic and heritable PAH and with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis recruited to the National Institute of Health Research BioResource-Rare Diseases study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of <1:10 000 in control data sets and predicted to be deleterious (by combined annotation-dependent depletion, PolyPhen-2, and sorting intolerant from tolerant predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. RESULTS: Eight hundred sixty-four patients with idiopathic or heritable PAH and 16 with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (Kco; 33% [interquartile range, 30%-35%] predicted) and younger age at diagnosis (29 years; interquartile range, 23-38 years) and more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest compared with patients with PAH without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival. CONCLUSIONS: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH. These patients cannot be identified reliably by computed tomography, but a low Kco and a young age at diagnosis suggests the underlying molecular diagnosis. Genetic testing can identify these misclassified patients, allowing appropriate management and early referral for lung transplantation

    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

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    Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in CHM\textit{CHM} in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre
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