A life without pain: a case report

Congenital insensitivity to pain is a rare condition with an abnormality of interpretation of painful stimuli. This case report illustrates how a sequence of injuries after no or trivial trauma incapacitated a young boy. Especially the bilateral collapse and dislocation of the hip is an unusual sequela of this disorder

The Distribution and Reproductive Success of the Western Snowy Plover Along the Central and Southern Oregon Coast - 2023

We monitored the distribution, abundance and productivity of the federally threatened Western Snowy Plover (Anarhynchus nivosus nivosus) along the central and south coast of Oregon from 4 April – 15 September 2023. We surveyed and monitored plover activity in a project area that included, from north to south, Sutton Beach, Siltcoos River estuary, the Dunes Overlook, North Tahkenitch Creek, Tenmile Creek, Coos Bay North Spit, Bandon Snowy Plover Management Area, New River Habitat Restoration Area (HRA) and adjacent lands, and Floras Lake. Our objectives for the project area in 2023 were to: 1) estimate the size of the adult Snowy Plover population, 2) locate plover nests, 3) determine nest success, 4) implement nest protection as appropriate (e.g. ropes and signs), 5) monitor a sample of broods to determine brood fate and plover productivity, and 6) use cameras and observational data to document predator activity at nests. We estimated the resident number of Snowy Plovers in Oregon at 475 individuals, lower than in 2022. We monitored 567 nests in 2023. Overall apparent nest success was 34%. Nest failures were attributed to unknown depredation, harrier depredation, unknown avian depredation, corvid depredation, unknown cause, abandonment, mammalian depredation, one egg nest, gull depredation, wind/weather, overwashing, and infertility. We sampled 62 of 190 known broods that produced 87 fledglings and estimated 261 total fledglings. Using the sample, brood success was 86%, fledging success was 54%, and based on the overall number of resident males, 0.79 chicks fledged per resident male

Confirmatory factor analysis and differential relationships of the two subdomains of negative symptoms in chronically ill psychotic patients

Research suggests a two factor structure for negative symptoms in patients with psychotic disorders: social amotivation (SA) and expressive deficits (ED). Applying this two-factor structure in clinical settings may provide valuable information with regard to outcomes and to target treatments. We aimed to investigate 1) whether the factor structure is also supported in chronically ill patients with a psychotic disorder and 2) what the relationship is between these factors and functioning (overall functioning and living situation), depressive symptoms and quality of life. 1157 Patients with a psychotic disorder and a duration of illness of 5 years or more were included in the analysis (data selected from the Pharmacotherapy Monitoring Outcome Survey; PHAMOUS). A confirmatory factor analysis was performed using items of the Positive and Negative Syndrome Scale that were previously identified to reflect negative symptoms (N1-4, N6, G5, G7, G13, G16). Subsequently, regression analysis was performed on outcomes. The results confirmed the distinction between SA (N2, N4, G16) and ED (N1, N3, N6, G5, G7, G13) in chronically ill patients. Both factors were related to worse overall functioning as measured with the Health of the Nation Outcome Scales, ED was uniquely associated with residential living status. Higher scores for SA were associated with more depressive symptoms and worse quality of life. Thus, SA is most strongly related to level of social-emotional functioning, while ED are more related to living situation and thereby are indicative of level of everyday functioning. This subdivision may be useful for research purposes and be a valuable additional tool in clinical practice and treatment development

Automatic generation of subject-specific finite element models of the spine from magnetic resonance images

The generation of subject-specific finite element models of the spine is generally a time-consuming process based on computed tomography (CT) images, where scanning exposes subjects to harmful radiation. In this study, a method is presented for the automatic generation of spine finite element models using images from a single magnetic resonance (MR) sequence. The thoracic and lumbar spine of eight adult volunteers was imaged using a 3D multi-echogradient-echo sagittal MR sequence. A deep-learning method was used to generate synthetic CT images from the MR images. A pre-trained deeplearning network was used for the automatic segmentation of vertebrae from the synthetic CT images. Another deep-learning network was trained for the automatic segmentation of intervertebral discs from the MR images. The automatic segmentations were validated against manual segmentations for two subjects, one with scoliosis, and another with a spine implant. A template mesh of the spine was registered to the segmentations in three steps using a Bayesian coherent point drift algorithm. First, rigid registration was applied on the complete spine. Second, non-rigid registration was used for the individual discs and vertebrae. Third, the complete spine was non-rigidly registered to the individually registered discs and vertebrae. Comparison of the automatic and manual segmentations led to dice-scores of 0.93–0.96 for all vertebrae and discs. The lowest dice-score was in the disc at the height of the implant where artifacts led to under-segmentation. The mean distance between the morphed meshes and the segmentations was below 1 mm. In conclusion, the presented method can be used to automatically generate accurate subject-specific spine models

Perspectives on Autism Spectrum Disorder Diagnosis, Symptoms, Treatment and Gender Roles:A Qualitative Study of Similarities and Differences between Sexes

This study aims to compare the experiences of women and men of different age groups with regard to their first autism spectrum disorder (ASD) diagnosis, symptoms, treatment, and gender roles to inform our understanding in clinical practice of differences as well as similarities. Semi-structured interviews were conducted amongst 22 women ( n = 12) and men ( n = 10) in three adult age groups regarding their diagnostic process, symptoms, treatment, and gender roles. Participants also filled out questionnaires on gender traits, social support, coping, and quality of life. Framework analysis guidelines were followed to identify subthemes within the three pre-defined key themes of the semi-structured interviews, and quantitative analyses were performed on the questionnaire results. Women often had caregiver roles and were more focused on social and family-oriented life aspects than men. Family and societal expectations may have been different for women from an early age onward and were considered burdensome by some, but not all. Views on ASD diagnosis, symptoms, and treatment were largely individually determined. The questionnaire results mostly showed no significant sex differences. Perceived gender roles differed between participants. In diagnosis and treatment, awareness of general gender differences and gender roles is important, but inter-individual differences and similar experiences in men should not be overlooked. </p

Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans

Severe mitochondria deficiency leads to a number of devastating degenerative disorders, yet, mild mitochondrial dysfunction in different species, including the nematode Caenorhabditis elegans, can have pro-longevity effects. This apparent paradox indicates that cellular adaptation to partial mitochondrial stress can induce beneficial responses, but how this is achieved is largely unknown. Complete absence of frataxin, the mitochondrial protein defective in patients with Friedreich's ataxia, is lethal in C. elegans, while its partial deficiency extends animal lifespan in a p53 dependent manner. In this paper we provide further insight into frataxin control of C. elegans longevity by showing that a substantial reduction of frataxin protein expression is required to extend lifespan, affect sensory neurons functionality, remodel lipid metabolism and trigger autophagy. We find that Beclin and p53 genes are required to induce autophagy and concurrently reduce lipid storages and extend animal lifespan in response to frataxin suppression. Reciprocally, frataxin expression modulates autophagy in the absence of p53. Human Friedreich ataxia-derived lymphoblasts also display increased autophagy, indicating an evolutionarily conserved response to reduced frataxin expression. In sum, we demonstrate a causal connection between induction of autophagy and lifespan extension following reduced frataxin expression, thus providing the rationale for investigating autophagy in the pathogenesis and treatment of Friedreich's ataxia and possibly other human mitochondria-associated disorders

Deep learning-enabled MRI-only photon and proton therapy treatment planning for paediatric abdominal tumours

Purpose: To assess the feasibility of magnetic resonance imaging (MRI)-only treatment planning for photon and proton radiotherapy in children with abdominal tumours. Materials and methods: The study was conducted on 66 paediatric patients with Wilms' tumour or neuroblastoma (age 4 +/- 2 years) who underwent MR and computed tomography (CT) acquisition on the same day as part of the clinical protocol. MRI intensities were converted to CT Hounsfield units (HU) by means of a UNet-like neural network trained to generate synthetic CT (sCT) from T1- and T2-weighted MR images. The CT-to-sCT image similarity was evaluated by computing the mean error (ME), mean absolute error (MAE), peak signal-to-noise ratio (PSNR) and Dice similarity coefficient (DSC). Synthetic CT dosimetric accuracy was verified against CT-based dose distributions for volumetric-modulated arc therapy (VMAT) and intensity-modulated pencil-beam scanning (PBS). Relative dose differences (D-diff) in the internal target volume and organs-at-risk were computed and a three-dimensional gamma analysis (2 mm, 2%) was performed. Results: The average +/- standard deviation ME was -5 +/- 12 HU, MAE was 57 +/- 12 HU, PSNR was 30.3 +/- 1. 6 dB and DSC was 76 +/- 8% for bones and 92 +/- 9% for lungs. Average D-diff were 99% (range [85; 100]%) for VMAT and >96% (range [87; 100]%) for PBS. Conclusion: The deep learning-based model generated accurate sCT from planning T1w- and T2w-MR images. Most dosimetric differences were within clinically acceptable criteria for photon and proton radiotherapy, demonstrating the feasibility of an MRI-only workflow for paediatric patients with abdominal tumours. (C) 2020 The Authors. Published by Elsevier B.V