Objective measurement of cough frequency during COPD exacerbation convalescence

Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality worldwide. Cough and sputum production are associated with adverse outcomes in COPD and are common during COPD exacerbation (AE-COPD). This study of objective cough monitoring using the Hull Automated Cough Counter and Leicester Cough Monitor software confirms that this system has the ability to detect a significant decrease in cough frequency during AE-COPD convalescence. The ability to detect clinically meaningful change indicates a potential role in home monitoring of COPD patients

Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description

BACKGROUND: SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series. We set out to detail the behavioural features of this disorder by undertaking interviews with those who have a child with SYNGAP1-related ID to allow them to describe their child’s behaviour. METHODS: We conducted 27 semi-structured interviews with parents and caregivers which covered basic information (e.g., age, gender), family history, perinatal history, past medical history, developmental history, epilepsy, behavioural history, and a general description of their child’s behaviour. RESULTS: Using a mixed quantitative and qualitative approach, the responses from the parents indicated that those with SYNGAP1-related ID showed high rates of autism spectrum disorder (52%), difficulties with fine and gross motor skills, delays in language development, and a high prevalence of epilepsy (70%). A qualitative analysis highlighted their general behaviour affected the themes of daily living skills, distress-related behaviours, emotional regulation, difficulties with change, a lack of danger awareness, and sensory differences. Sensory features described involved auditory, visual, tactile, gustatory, and proprioceptive themes. CONCLUSIONS: Our findings and behavioural descriptions provide important insights as well as implications for the diagnosis and care of those with SYNGAP1-related ID. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-022-09437-x

Visual social attention in SYNGAP1-related intellectual disability

SYNGAP1-ID is a neurodevelopmental disorder caused by a mutation of the SYNGAP1 gene. Characterized by moderate to severe developmental delay, it is associated with several physical and behavioral issues as well as additional diagnoses, including autism. However, it is not known whether social cognitive differences seen in SYNGAP1-ID are similar to those previously identified in idiopathic or other forms of autism. This study therefore investigated visual social attention in SYNGAP1-ID. Eye movements were recorded across three passive viewing tasks (face scanning, pop-out, and social preference) of differing social complexity in 24 individuals with SYNGAP1-ID and 12 typically developing controls. We found that SYNGAP1-ID participants looked at faces less than the controls, and when they did look at faces, they had less time looking at and fewer fixations to the eyes. For the pop-out task, where social and nonsocial objects (Phone, car, face, bird, and face-noise) were presented in an array, those with SYNGAP1-ID spent significantly less time looking at the phone stimulus as well as fewer fixations to the face compared with the typically developing controls. When looking at two naturalistic scenes side by side, one social in nature (e.g., with children present) and the other not, there were no differences between the SYNGAP1-ID group and typically developing controls on any of the examined eye tracking measures. This study provides novel findings on the social attention of those with SYNGAP1-ID and helps to provide further evidence for using eye tracking as an objective measure of the social phenotype in this population in future clinical trials.</p

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability

SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. Individuals with SYNGAP1-related ID also commonly show differences in attention and social communication/interaction and frequently receive additional diagnoses of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). We thus set out to quantify ASD and ADHD symptoms in children with this syndrome. To assess ASD and ADHD, parents and caregivers of a child with SYNGAP1-related ID (N = 34) or a typically developing control (N = 21) completed the Social Responsiveness Scale-2, the Social Communication Questionnaire with a subset of these also completing the Conners-3. We found that those with SYNGAP1-related ID demonstrated higher levels of autistic traits on both the SRS and SCQ than typically developing controls. On the SRS, those with SYNGAP1-related ID scored highest for restricted repetitive behaviours, and were least impaired in social awareness. On the Conners-3, those with SYNGAP1-related ID also showed a high prevalence of ADHD traits, with scores demonstrating difficulties with peer relations but relatively low occurrence of symptoms for DSM-5 conduct disorder and DSM-5 oppositional defiant disorder. Hierarchical clustering analysis highlighted distinct SYNGAP1-related ID subgroups for both ASD and ADHD traits. These findings provide further characterisation of the SYNGAP1-related ID behavioural phenotype, guiding diagnosis, assessment and potential interventions.</p

The Behavioral Profile of SYNGAP1-Related Intellectual Disability

This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occuring epilepsy. This characterization of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioral profile of this population and is a step towards the development of tailored interventions.</p

Continuous cough monitoring using ambient sound recording during convalescence from a COPD exacerbation

Purpose Cough is common in chronic obstructive pulmonary disease (COPD) and is associated with frequent exacerbations and increased mortality. Cough increases during acute exacerbations (AE-COPD), representing a possible metric of clinical deterioration. Conventional cough monitors accurately report cough counts over short time periods. We describe a novel monitoring system which we used to record cough continuously for up to 45 days during AE-COPD convalescence. Methods This is a longitudinal, observational study of cough monitoring in AE-COPD patients discharged from a single teaching-hospital. Ambient sound was recorded from two sites in the domestic environment and analysed using novel cough classifier software. For comparison, the validated hybrid HACC/LCM cough monitoring system was used on days 1, 5, 20 and 45. Patients were asked to record symptoms daily using diaries. Results Cough monitoring data were available for 16 subjects with a total of 568 monitored days. Daily cough count fell significantly from mean±SEM 272.7±54.5 on day 1 to 110.9±26.3 on day 9 (p&lt;0.01) before plateauing. The absolute cough count detected by the continuous monitoring system was significantly lower than detected by the hybrid HACC/LCM system but normalised counts strongly correlated (r=0.88, p&lt;0.01) demonstrating an ability to detect trends. Objective cough count and subjective cough scores modestly correlated (r=0.46). Conclusions Cough frequency declines significantly following AE-COPD and the reducing trend can be detected using continuous ambient sound recording and novel cough classifier software. Objective measurement of cough frequency has the potential to enhance our ability to monitor the clinical state in patients with COPD

Morphology of Anion-Conducting Ionenes Investigated by X-ray Scattering and Simulation

We have studied the morphology of a novel series of benzimidazole-based ionenes, methylated poly(hexamethyl-p-terphenylbenzimidazolium) (HMT-PMBI), in halide form. Materials with anion-exchange capacities ranging from 0 to 2.5 mequiv/g were studied. X-ray scattering reveals three length scales in the materials: ion–polymer spacing (4 Å), polymer–polymer interchain spacing (6 Å), and an intrachain repeat distance (20 Å). No long-range structure is apparent above the monomer length, which is rare in ion-conducting polymer membranes. In preliminary molecular dynamics simulations, water molecules were observed forming chains between ions, even at a modest level of hydration, providing an interpenetrating network where conductivity can occur

A comparison of CFD and full-scale measurement for analysis of natural ventilation

CFD modelling techniques have been used to simulate the coupled external and internal flow in a cubic building with two dominant openings. CFD predictions of the time-averaged cross ventilation flow rates have been validated against full-scale experimental data under various weather conditions in England. RANS model predictions proved reliable when wind directions were near normal to the vent openings. However, when the fluctuating ventilation rate exceeded the mean flow, RANS models were incapable of predicting the total ventilation rate. Improved results are expected by applying more sophisticated turbulence models, such as LES or weighted quasi-steady approximations

Matrix Product State Pre-Training for Quantum Machine Learning

Hybrid Quantum-Classical algorithms are a promising candidate for developing uses for NISQ devices. In particular, Parametrised Quantum Circuits (PQCs) paired with classical optimizers have been used as a basis for quantum chemistry and quantum optimization problems. Training PQCs relies on methods to overcome the fact that the gradients of PQCs vanish exponentially in the size of the circuits used. Tensor network methods are being increasingly used as a classical machine learning tool, as well as a tool for studying quantum systems. We introduce a circuit pre-training method based on matrix product state machine learning methods, and demonstrate that it accelerates training of PQCs for both supervised learning, energy minimization, and combinatorial optimization.Comment: v2: Added short comparison to entanglement devised barren plateau mitigation - relevant paper missed in first submissio

Peripheral Nerve Tumors in Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis

Neurofibromatosis was first described in the nineteenth century. At the time, Friederich Daniel Von Recklinghausen detailed two cases of multiple neurofibromas. Although reports of similar cases had been published before his, Von Recklinghausen is credited with the initial description in 1882, postulating that the tumors originated from nerve sheath and plexal connective tissue. Similarly, in 1822 John Henry Wishart described what is believed to be neurofibromatosis type 2; however, it was Harvey Cushing’s description of a case of bilateral vestibular schwannomas in 1916 that highlighted and increased awareness of the disease (albeit the original presentation was thought to be in the context of neurofibromatosis type 1). Since their original description, understanding of these neurocutaneous diseases has greatly expanded. Knowledge of the genotypic mutations and molecular mechanisms underlying the disease pathophysiology has resulted in natural history enlightenment and optimal treatment refinement. However, many aspects of neurofibromatosis have yet to be explained and remain active areas of investigation. In this chapter, clinical, radiological, and surgical considerations for peripheral nerve tumor management in the context of neurocutaneous disorders are reviewed. More specifically, clinical presentations, pathological and imaging findings, as well as management for neurofibromatosis type 1, type 2, and schwannomatosis are comprehensively discussed