A differential diagnosis of a head and neck bony lesion : Review of a case series with 18 patients with extraintestinal features of familial adenomatous polyposis

Peer reviewe

Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Instrumental Outcomes of Velopharyngeal Function

Objective: To investigate the effect of maxillary osteotomy on velopharyngeal function in cleft lip and palate (CLP) using instrumental measures. / Design: A prospective study. / Participants: A consecutive series of 20 patients with CLP undergoing maxillary osteotomy by a single surgeon were seen at 0 to 3 months presurgery (T1), 3 months (T2), and 12 months (T3) post-surgery. / Interventions: Nasalance was measured on the Nasometer II 6400. For videofluoroscopy and nasendoscopy data, visual perceptual ratings, for example, palatal lift angle (PLAn), and quantitative ratiometric measurements, for example, closure ratio (CRa), were made using a validated methodology and computer software. Reliability studies were undertaken for all instrumental measures. / Main Outcome Measures: Repeated measures analysis of variance (with time at 3 levels) for nasalance and each velar parameter. Planned comparisons across pairs of time points (T1-T2, T1-T3, and T2-T3) including effect sizes. / Results: A significant difference over time was found for nasalance (P = .001) and planned comparisons across pairs of time points were significant between T1 and T2 (P = .008), T1 and T3 (P = .002), but not between T2 and T3 (P = .459) providing evidence that maxillary osteotomy can impact on nasalance adversely and that the changes seen are permanent and stable. There were also significant differences over time for PLAn (P = .012) and CRa (P = −.059) and planned comparisons for both velar parameters reflected similar findings to those of nasalance. / Conclusions: Maxillary osteotomy can adversely affect velopharyngeal function in patients with CLP. The study provides evidence for a much earlier post-surgery review even as early as 3 months after surgery

Identifying Predictors of Acquired Velopharyngeal Insufficiency in Cleft Lip and Palate Following Maxillary Osteotomy Using Multiple Regression Analyses

Background: Maxillary osteotomy is typically undertaken to correct abnormal facial growth in cleft lip and palate. The surgery can cause velopharyngeal insufficiency resulting in hypernasality. This study aims to identify valid predictors of acquired velopharyngeal insufficiency following maxillary osteotomy by using a range of perceptual and instrumental speech investigations and multiple regression. / Methods: A prospective study was undertaken consisting of a consecutive series of patients with cleft lip and palate (N = 20) undergoing maxillary osteotomy by a single surgeon. Participants were seen at: 0 to 3 months pre-surgery (T1), 3-months (T2), and 12-months (T3) post-surgery. Hypernasality was rated using the cleft audit protocol for speech-augmented (CAPS-A) and visual analog scales, and nasalance was measured on the Nasometer II 6400. For lateral videofluorosopic and nasendoscopic images, visual perceptual ratings and quantitative ratiometric measurements were undertaken. Multiple regression analyses were undertaken to identify predictors. / Results: T3 models with hypernasality as the dependent variable were found to be a good fit and significant (eg, CAPS-A: R2 = 0.920, F(11,7) = 7.303, P = 0.007). Closure ratio (a quantitative ratiometric measurement) and proportion of palate contacting the posterior pharyngeal wall (a visual perceptual rating) were identified as significant predictors for the CAPS-A model (P = 0.030, P = 0.002)

The Effect of Visual Perceptual Load on Auditory Awareness in Autism Spectrum Disorder

Recent work on visual selective attention has shown that individuals with Autism Spectrum Disorder (ASD) demonstrate an increased perceptual capacity. The current study examined whether increasing visual perceptual load also has less of an effect on auditory awareness in children with ASD. Participants performed either a high- or low load version of a line discrimination task. On a critical trial, an unexpected, task-irrelevant auditory stimulus was played concurrently with the visual stimulus. In contrast to typically developing (TD) children, children with ASD demonstrated similar detection rates across perceptual load conditions, and reported greater awareness than TD children in the high perceptual load condition. These findings suggest an increased perceptual capacity in children with ASD that operates across sensory modalities

AI2D-RST : A multimodal corpus of 1000 primary school science diagrams

This article introduces AI2D-RST, a multimodal corpus of 1000 English-language diagrams that represent topics in primary school natural sciences, such as food webs, life cycles, moon phases and human physiology. The corpus is based on the Allen Institute for Artificial Intelligence Diagrams (AI2D) dataset, a collection of diagrams with crowdsourced descriptions, which was originally developed to support research on automatic diagram understanding and visual question answering. Building on the segmentation of diagram layouts in AI2D, the AI2D-RST corpus presents a new multi-layer annotation schema that provides a rich description of their multimodal structure. Annotated by trained experts, the layers describe (1) the grouping of diagram elements into perceptual units, (2) the connections set up by diagrammatic elements such as arrows and lines, and (3) the discourse relations between diagram elements, which are described using Rhetorical Structure Theory (RST). Each annotation layer in AI2D-RST is represented using a graph. The corpus is freely available for research and teaching.Peer reviewe

Comparative transcriptome analysis of the metal hyperaccumulator Noccaea caerulescens

The metal hyperaccumulator Noccaea caerulescens is an established model to study the adaptation of plants to metalliferous soils. Various comparators have been used in these studies. The choice of suitable comparators is important and depends on the hypothesis to be tested and methods to be used. In high-throughput analyses such as microarray, N. caerulescens has been compared to non-tolerant, non-accumulator plants like Arabidopsis thaliana or Thlaspi arvense rather than to the related hypertolerant or hyperaccumulator plants. An underutilized source is N. caerulescens populations with considerable variation in their capacity to accumulate and tolerate metals. Whole transcriptome sequencing (RNA-Seq) is revealing interesting variation in their gene expression profiles. Combining physiological characteristics of N. caerulescens accessions with their RNA-Seq has a great potential to provide detailed insight into the underlying molecular mechanisms, including entirely new gene products. In this review we will critically consider comparative transcriptome analyses carried out to explore metal hyperaccumulation and hypertolerance of N. caerulescens, and demonstrate the potential of RNA-Seq analysis as a tool in evolutionary genomic

Protocol for the development and validation procedure of the managing the link and strengthening transition from child to adult mental health care (MILESTONE) suite of measures

Background: Mental health disorders in the child and adolescent population are a pressing public health concern. Despite the high prevalence of psychopathology in this vulnerable population, the transition from Child and Adolescent Mental Health Services (CAMHS) to Adult Mental Health Services (AMHS) has many obstacles such as deficiencies in planning, organisational readiness and policy gaps. All these factors contribute to an inadequate and suboptimal transition process. A suite of measures is required that would allow young people to be assessed in a structured and standardised way to determine the on-going need for care and to improve communication across clinicians at CAMHS and AMHS. This will have the potential to reduce the overall health economic burden and could also improve the quality of life for patients travelling across the transition boundary. The MILESTONE (Managing the Link and Strengthening Transition from Child to Adult Mental Health Care) project aims to address the significant socioeconomic and societal challenge related to the transition process. This protocol paper describes the development of two MILESTONE transition-related measures: The Transition Readiness and Appropriateness Measure (TRAM), designed to be a decision-making aide for clinicians, and the Transition Related Outcome Measure (TROM), for examining the outcome of transition. Methods: The TRAM and TROM have been developed and were validated following the US FDA Guidance for Patient-reported Outcome Measures which follows an incremental stepwise framework. The study gathers information from service users, parents, families and mental health care professionals who have experience working with young people undergoing the transition process from eight European countries. Discussion: There is an urgent need for comprehensive measures that can assess transition across the CAMHS/AMHS boundary. This study protocol describes the process of development of two new transition measures: the TRAM and TROM. The TRAM has the potential to nurture better transitions as the findings can be summarised and provided to clinicians as a clinician-decision making support tool for identifying cases who need to transition and the TROM can be used to examine the outcomes of the transition process. Trial registration: MILESTONE study registration: ISRCTN83240263 Registered 23-July-2015 - ClinicalTrials.gov NCT03013595 Registered 6 January 2017

Identification of fluency and word-finding difficulty in samples of children with diverse language backgrounds

BACKGROUND: Stuttering and word-finding difficulty (WFD) are two types of communication difficulty that occur frequently in children who learn English as an additional language (EAL), as well as those who only speak English. The two disorders require different, specific forms of intervention. Prior research has described the symptoms of each type of difficulty. This paper describes the development of a non-word repetition test (UNWR), applicable across languages, that was validated by comparing groups of children identified by their speech and language symptoms as having either stuttering or WFD. AIMS: To evaluate whether non-word repetition scores using the UNWR test distinguished between children who stutter and those who have a WFD, irrespective of the children's first language. METHODS AND PROCEDURES UNWR was administered to ninety-six 4–5-year-old children attending UK schools (20.83% of whom had EAL). The children's speech samples in English were assessed for symptoms of stuttering and WFD. UNWR scores were calculated. OUTCOMES AND RESULTS: Regression models were fitted to establish whether language group (English only/EAL) and symptoms of (1) stuttering and (2) WFD predicted UNWR scores. Stuttering symptoms predicted UNWR, whereas WFD did not. These two findings suggest that UNWR scores dissociate stuttering from WFD. There were no differences between monolingual English-speakers and children who had EAL. CONCLUSIONS AND IMPLICATIONS: UNWR scores distinguish between stuttering and WFD irrespective of language(s) spoken, allowing future evaluation of a range of languages in clinics or schools

Metabolic changes in response to varying whole-grain wheat and rye intake

Epidemiological studies have shown associations between whole-grain intake and lowered disease risk. A sufficient level of whole-grain intake to reach the health benefits has not been established, and there is limited knowledge about the impact of whole-grain intake on metabolite levels. In this clinical intervention study, we aimed to identify plasma and urine metabolites associated with two different intake levels of whole-grain wheat and rye and to correlate them with clinical plasma biomarkers. Healthy volunteers (N = 68) were divided into two groups receiving either whole-grain wheat or whole-grain rye in two four-week interventions with 48 and 96 g/d of whole grains consumed. The metabolomics of the plasma samples was performed with UPLC–QTOF-MS. Plasma alkylresorcinols were quantified with GC-MS and plasma and urinary mammalian lignans with HPLC-ECD. The high-dose intervention impacted the metabolite profile, including microbial metabolites, more in the rye-enriched diet compared with wheat. Among the increased metabolites were alkylresorcinol glucuronides, sinapyl alcohol, and pipecolic acid betaine, while the decreased metabolites included acylcarnitines and ether lipids. Plasma alkylresorcinols, urinary enterolactone, and total mammalian lignans reflected the study diets in a dose-dependent manner. Several key metabolites linked with whole-grain consumption and gut microbial metabolism increased in a linear manner between the two interventions. The results reveal that an increase in whole-grain intake, particularly rye, is strongly reflected in the metabolite profile, is correlated with clinical variables, and suggests that a diet rich in whole grains promotes the growth and/or metabolism of microbes producing potentially beneficial microbial metabolites.Similar content being viewed by other

Predictors of transitioning to adult mental health services and associated costs: a cross-country comparison

BACKGROUND: Young people are at risk of falling through the care gap after leaving child and adolescent mental health services (CAMHS) despite an ongoing need for mental health support. Currently, little is known about the predictors of transitioning to adult mental health services (AMHS), and associated healthcare and societal costs as young people cross the transition boundary. OBJECTIVE: To conduct a secondary data analysis exploring predictors of transitioning or falling through the gap and associated costs. METHODS: Data were used from a longitudinal study, which followed young people from seven European countries for 2 years after reaching their CAMHS boundary. Predictors of transitioning (including sociodemographic and clinical variables) and longitudinal resource use were compared for 488 young people who transitioned to AMHS versus those who fell through the gap. FINDINGS: Young people were more likely to transition to AMHS if they were severely ill. Those from Italy, the Netherlands and the UK were more likely to fall through the gap than transition to AMHS. Healthcare costs fell for all young people over the study, with a sharper decrease for those who fell through the gap. CONCLUSIONS: Total healthcare costs fell for all participants, indicating that the intensity of mental health support reduces for all young people as they cross the CAMHS boundary, regardless of clinical need. CLINICAL IMPLICATIONS: It is important that alternative forms of mental health support are available for young people who do not meet the AMHS care threshold but still have mental health needs after leaving CAMHS