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IntroductionSelf-care plays a pivotal role in the management of heart failure (HF). Health literacy and empowerment are considered the prerequisites of effective self-care. This project aims to improve self-management in people with HF by describing, analysing and enhancing the communication practices of clinicians and patients to support people with HF to increase their health literacy skills and participate in shared decision-making.Methods and analysisA multimethod research design incorporating an interview component, a concurrent mixed-methods component and a pilot intervention study is used. The study is currently being conducted at two Australian hospitals in metropolitan areas (one public and one private). The interview component involves semistructured interviews with healthcare providers and hospital executives and managers at the participating sites to explore perceived barriers and facilitators to HF self-management and understand the institutional context of HF care. The concurrent mixed-methods components include: (a) tracking and audio recording the clinical interactions of patients with HF (n=30) during their hospitalisation and up to 6 months after discharge and semistructured interviews with the patient (and the carer) and the participating clinician after each clinical interaction and (b) collecting longitudinal survey data (n=180, patients) to track patients’ health literacy, empowerment and self-management over 6 months. The pilot feasibility study includes developing a complex intervention for clinicians and patients and evaluating its acceptability and potential in improving health literacy and reducing readmissions, length of stay and costs.Ethics and disseminationThis study was approved by the Australian Capital Territory Health (2023.ETH.00007) and Edith Cowan University (023–04314-SAUNDERS) Human Research Ethics Committees. Informed consent was obtained and will continue to be sought from all participants. Study results will be disseminated in peer-reviewed journals.

The Scheffler type concentrator is a curved metal reflector particularly suitable for solar thermal systems with a receiver fixed to the ground. Its operating principle is to deform the reflector throughout the year to optimize its performance in collecting sunlight. This study analyses the optical performance of a Scheffler reflector during the year. A CAD software tool is utilized to reproduce the mechanical deformations of a real Scheffler concentrator and the shape of the light spot on the receiver is analyzed by means of raytracing simulations. The starting configuration is the equinoctial paraboloid, which produces a point-like spot on the two equinox days only. On all other days of the year, this paraboloid is deformed in a suitable way in order to keep the spot as small as possible, but, even so, it is no longer a point-like spot. In the present work the simulated light distributions on the receiver, generated by the paraboloids (deformed or original), are compared. The results confirm the working principle of the Scheffler type concentrator and allow correctly sizing the receiver.

ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we show a novel olfactory bulb phenotype in a KBG syndrome mouse model and two diagnosed patients. Conditional knockout of Ankrd11 in murine embryonic neural stem cells leads to aberrant postnatal olfactory bulb development and reduced size due to reduction of the olfactory bulb granule cell layer. We further show that the rostral migratory stream has incomplete migration of neuroblasts, reduced cell proliferation as well as aberrant differentiation of neurons. This leads to reduced neuroblasts and neurons in the olfactory bulb granule cell layer. In vitro, Ankrd11 -deficient neural stem cells from the postnatal subventricular zone display reduced migration, proliferation, and neurogenesis. Finally, we describe two clinically and molecularly confirmed KBG syndrome patients with anosmia and olfactory bulb and groove hypo-dysgenesis/agenesis. Our report provides evidence that Ankrd11 is a novel regulator of olfactory bulb development and neuroblast migration. Moreover, our study highlights a novel clinical sign of KBG syndrome linked to ANKRD11 perturbations in mice and humans.

Background Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern. Moreover, a literature review differentiating the different types of neuroimaging data was conducted for comparison with our population. Results Thirty-one individuals were enrolled (17 females/14 males; age range 0.1–17.5 years old at first MRI). An experienced pediatric neuroradiologist reviewed brain MRIs, blindly to clinical data. Brain abnormalities were observed in all but one individual (compared to the 34% frequency found in the literature review). Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic splenium; 4 had only hypoplastic splenium; and 2 had a thin corpus callosum. Cerebral hypoplasia/atrophy was found in 23/31 (74%) and ventriculomegaly in 20/31 (65%). Other frequent features were the enlargement of the cisterna magna in 15/30 (50%) and polymicrogyria in 14/29 (48%). Conversely, the frequency of the latter was found to be 4% from the literature review. Notably, in our population, polymicrogyria was in the perisylvian area in all 14 cases, and it was bilateral in 10/14. Conclusions Brain abnormalities are very common in PKS and occur much more frequently than previously reported. Bilateral perisylvian polymicrogyria was a main aspect of our population. Our findings provide an additional tool for early diagnosis.Further studies to investigate the possible correlations with both genotype and phenotype may help to define the etiopathogenesis of the neurologic phenotype of this syndrome.

Key Clinical Message Spinal cord compression from non‐Hodgkin lymphoma (NHL) should be considered as a potential diagnosis in cases of acute signs of myelopathy in pediatric patients. Spinal cord compression in pediatric non‐Hodgkin lymphoma (NHL) is a rare presentation with potential diagnostic challenges. We report on two pediatric patients with NHL who exhibited myelopathy signs as initial presentation. Considering NHL as a differential diagnosis in pediatric patients presenting with spinal cord compression is crucial for optimizing the outcome of these patients. Pre‐operative scan reveals epidural tissue from D7 to D11, which compresses and dislocates the dural sac. Post‐ operative scan shows surgical removal of the neoplastic intacanal component, with complete resolution of the mass effect.

Background: Mucopolysaccharidoses (MPSs) are rare lysosomal storage disorders characterized by multisystem involvement; notably, skeletal abnormalities known as dysostosis multiplex and varying degrees of central nervous system impairment. Accurate radiological evaluation is crucial for accurate diagnosis and effective planning. This study aims to describe the clinical and radiological features of patients with MPS managed at our tertiary care center. Methods: We retrospectively reviewed clinical and radiological data from eight patients with confirmed MPS treated at S. Orsola University Hospital (Bologna, Italy) since 2000. Imaging included conventional radiography, supplemented by MRI and CT. The findings were analyzed by MPS subtype and correlated with clinical evolution and therapeutic interventions. A literature review complemented the analysis. Results: The cohort included one patient with MPS I, two with MPS II, one with MPS III, and four with MPS IV. Common skeletal findings were vertebral deformities, hip dysplasia, and shortening of long bones. Patients with MPS IV showed the most severe bone involvement, including pronounced platyspondyly and odontoid hypoplasia. Follow-up imaging demonstrated progression of bone and CNS pathology despite enzyme replacement therapy (ERT). Conclusions: Our findings underscore the pivotal role of imaging in MPS management. Tailored radiological protocols and multidisciplinary care are crucial for optimizing diagnosis and monitoring disease progression.

Background: The measurement of optic nerve sheath diameter (ONSD) as a non-invasive method of estimating intracranial pressure has been widely reported in the literature. However, few studies have evaluated the accuracy of magnetic resonance imaging (MRI) in assessing ONSD measurements, although it is considered a very reliable method, it is not easily repeatable, expensive and is not readily available bedside. Herein, an assessment of the intra- and inter-rater reliability of ONSD assessment using MRI was conducted. Methods: A consecutive, prospective cohort of patients with suspected idiopathic normal-pressure hydrocephalus was analyzed. ONSD MRI measurements of the transverse and sagittal diameters at a distance of 3 mm behind the papilla were evaluated twice each by two expert neuroradiologists. The correlations between MRI examiners were calculated using the concordance correlation coefficient (CCC). Results: Fifty patients were included in the study. ONSD MRI average measurements were substantially higher than clinically expected (>5 mm). Considering intra-rater concordance, only one of the two neuroradiologists achieved an excellent score at CCC. Only a moderate inter-observer CCC for MRI assessment was found at all diameters. Conclusions: The use of a widespread MRI sequence (3D T1) to measure ONSD is not an accurate method since it may overestimate measurements and is dependent upon an operator.

We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we analyzed the prevalence of neuroradiologic findings in routine magnetic resonance imaging (MRI) scans of a group of 117 ASD children younger than 5 years old. These data were compared to those reported in typically developing (TD) children. MRI findings in children with ASD were analyzed in relation to their cognitive level, severity of autistic symptoms, and the presence of electroencephalogram (EEG) abnormalities. The MRI was rated abnormal in 55% of children with ASD with a significant prevalence in the high-functioning subgroup compared to TD children. We report significant incidental findings of mega cisterna magna, ventricular anomalies and abnormal white matter signal intensity in ASD without significant associations between these MRI findings and EEG features. Based on these results we discuss the role that brain MRI may play in the diagnostic procedure of ASD.

The checks carried out so far (the last in January 2019) evidenced no signs of evolving disease. Since 2003, all cases of leprosy in Italy have been imported [2–4]. According to the interview, the first signs of the disease appeared in April 2014, when he was still in Libya. [...]although in Italy there is a codified system of notification and surveillance of leprosy, the management of cases and their contacts is made difficult by the peculiarity of the people involved.