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

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

CT analysis of the posterior anatomical landmarks of the scoliotic spine

AIM: To use computed tomography (CT) to assess the validity and reliability of the posterior landmarks, spinous processes (SP), transverse processes (TP), and centre of lamina (COL), as compared to the Cobb angle to assess the curve severity and progression of adolescent idiopathic scoliosis (AIS). MATERIALS AND METHODS: A consecutive series of CT examinations of severe AIS patients were included retrospectively. SP, TP, and COL angles were measured for all curves and compared to the Cobb angle. RESULTS: One hundred and five patients were included. The mean Cobb versus SP, TP, and COL angles were, 54° versus 37°, 49°, and 51° in the thoracic curves and 34° versus 26°, 31°, and 34° in the (thoraco)lumbar curves. Intraclass correlation coefficient values for intra-rater measurements of the SP, TP, and COL angles were 0.93, 0.97, and 0.95 and 0.70, 0.90, and 0.88 for inter-rater measurements. The correlations between the Cobb angle and SP, TP, and COL angles in thoracic and (thoraco)lumbar curves were 0.79 and 0.66, 0.87 and 0.84, and 0.80 and 0.70. CONCLUSIONS: The posterior spinal landmarks can be used for assessment of scoliosis severity in AIS; however, they show a systematic underestimation, but a strong correlation with the coronal Cobb angle. TP and COL angles had the highest validity

Measuring the Autistic Women's Experience (AWE)

We developed a Dutch questionnaire called the Autistic Women's Experience (AWE) and compared its psychometric properties to the Autism Spectrum Quotient (AQ). Whilst attenuated gender differences on the AQ have been widely replicated, this instrument may not fully capture the unique experience of autistic women. The AWE was co-developed with autistic women to include items that reflect autistic women's experience. We investigated the AWE (49 items) and compared it with the AQ (50 items) in Dutch autistic individuals ( N = 153, n = 85 women) and in the general population ( N = 489, n = 246 women) aged 16+. Both the AQ and AWE had excellent internal consistency and were highly and equally predictive of autism in both women and men. Whilst there was a gender difference on the AQ among non-autistic people (men &gt; women), there was no gender difference among autistic people, confirming all earlier studies. No gender differences were detected on the AWE overall scale, yet subtle gender differences were observed on the subscales. We conclude that the AQ is valid for both genders, but the AWE provides an additional useful perspective on the characteristics of autistic women. The AWE needs further validation in independent samples using techniques that allow for testing gender biases, as well as a confirmatory factor analysis in a larger sample. </p

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-echo-gradient-echo sagittal MR sequence. A deep-learning method was used to generate synthetic CT images from the MR images. A pre-trained deep-learning 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

Final report of EURAMET.M.G-K3 regional comparison of absolute gravimeters

The regional key comparison of absolute gravimeters, EURAMET.M.G-K3 and the simultaneously organized additional comparison, was held in Germany at the Geodetic Observatory Wettzell of the German Federal Agency for Cartography and Geodesy in the spring of 2018.Here we present the list of the participants who actually performed measurements during the comparison, the data submitted by the operators as well as the results of the determination of the gravity as a function of height at the comparison sites. The measurement strategy is briefly discussed and the results of the data harmonization is documented. Finally, the results of the constrained least squares adjustment are presented including the degrees of equivalence of each gravimeter and the key comparison reference values.Main textTo reach the main text of this paper, click on Final Report. Note that this text is that which appears in Appendix B of the BIPM key comparison database kcdb.bipm.org/.The final report has been peer-reviewed and approved for publication by the CCM, according to the provisions of the CIPM Mutual Recognition Arrangement (CIPM MRA).Export citation and abstract BibTeX RIS

Long-term psychosocial functioning after Ilizarov limb lengthening during childhood: 37 patients followed for 2–14 years

Background and purpose Few studies have been concerned with the patient's perception of the outcome of limb lengthening. We describe the psychological and social functioning after at least 2 years of follow-up in patients who had had a leg length discrepancy and who had undergone an Ilizarov limb lengthening procedure

A multipurpose, adolescent idiopathic scoliosis-specific, short MRI protocol: A feasibility study in volunteers

Introduction: Visualization of scoliosis typically requires ionizing radiation (radiography and CT) to visualize bony anatomy. MRI is often additionally performed to screen for neural axis abnormalities. We propose a 14-minutes radiation-free scoliosis-specific MRI protocol, which combines MRI and MRI-based synthetic CT images to visualize soft and osseous structures in one examination. We assess the ability of the protocol to visualize landmarks needed to detect 3D patho-anatomical changes, screen for neural axis abnormalities, and perform surgical planning and navigation. Methods: 18 adult volunteers were scanned on 1.5 T MR-scanner using 3D T2-weighted and synthetic CT sequences. A predefined checklist of relevant landmarks was used for the parameter assessment by three readers. Parameters included Cobb angles, rotation, torsion, segmental height, area and centroids of Nucleus Pulposus and Intervertebral Disc. Precision, reliability and agreement between the readers measurements were evaluated. Results: 91 % of Likert-based questions scored ≥ 4, indicating moderate to high confidence. Precision of 3D dot positioning was 1.0 mm. Precision of angle measurement was 0.6° (ICC 0.98). Precision of vertebral and IVD height measurements was 0.4 mm (ICC 0.99). Precision of area measurement for NP was 8 mm2 (ICC 0.55) and for IVD 18 mm2 (ICC 0.62) for IVD. Precision of centroid measurement for NP was 1.3 mm (ICC 0.88–0.92) and for IVD 1.1 mm (ICC 0.88–91). Conclusions: The proposed MRI protocol with synthetic CT reconstructions, has high precision, reliability and agreement between the readers for multiple scoliosis-specific measurements. It can be used to study scoliosis etiopathogenesis and to assess 3D spinal morphology