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Purpose and objective: Squamous cell carcinoma of the anal margin (SCCAM) is an uncommon lesion that comprises one-third to a quarter of all anal squamous cell carcinoma. Treatment involves surgery or exclusive radiotherapy for small tumours, whereas the preferred treatment for larger tumours is chemoradiotherapy. In our department, selected patients with SCCAM are treated with electron beam radiotherapy using one perineal field. The present study evaluates this strategy. Material and methods: All consecutive patients with SCCAM and treated with electron beam radiotherapy from 2012 to 2022 were included. Data were retrospectively extracted from the medical records and analysed descriptively. Local control (LC) and overall survival (OS) were analysed using Kaplan-Meier statistics. Results: Forty patients were evaluated. Primary radiotherapy was delivered in 35 (87.5%) patients. Five (12.5%) patients had postoperative radiotherapy. Median prescription dose was 60.0 (range 45.0–60.2) Gy in 28 (range 10–30) fractions delivered with 8 (range 4–18) MeV using a standard circular aperture and bolus. At a median follow-up of 73 (range 9–135) months, 7 (17.5%) patients were diagnosed with local recurrences. The 5-year LC rate was 84.3% (95% CI: 71.4%–97.2%). Analysis of LC according to T-stage revealed a 5-year LC of 100% (95% CI: 100%–100%) in T1 tumours compared to 57.0% (95% CI: 27.4%–86.6%) in T2 tumours (p < 0.001). 5-year OS was 91.6% (95% CI: 83.0%–100%). Late grade 3 toxicity included ulceration in the skin and subcutis in 2 (5.0%) patients. Intepretation: Electron beam radiotherapy enables the delivery of ‘eye-guided’ radiotherapy directly to the tumour. LC is good in patients with T1 tumours. Patients with T2 tumours have less satisfactory LC and should be treated with chemoradiotherapy. Electron beam radiotherapy enables the delivery of “eye-guided” RT directly to the tumour. LC is excellent in patients with T1 tumours. Patients with T2 tumours have less satisfactory LC and should be treated with chemoradiotherapy.

This Data in Brief (DiB) article presents the differences in cycling behaviors related to violations, errors, and positive behaviors by region. The study data were collected by means of a structured questionnaire applied to a full sample of 7,001 participants from 19 countries, distributed over 5 continents. This paper proposes descriptive statistics, as well as common statistical tests. The aim is to enable authors to make their own analyses, not to provide precise interpretations. For further information about the macro project supporting the collection of these data, it is advised to refer to the paper titled “Cross-culturally approaching the cycling behavior questionnaire (CBQ): Evidence from 19 countries”, published in Transportation Research Part F: Traffic Psychology and Behavior.

Abstract Introduction Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with neurofibromatosis type 1 (NF1). The objective of this study was to describe the natural history of PN in children, adolescents and adults with NF1. Methods This was a nationwide, longitudinal cohort study of patients with NF1 under observation at the two national centres of NF1 expertise in Denmark between 2000 and 2020. Patient and clinical characteristics were documented from individual medical records. Results A total of 1099 patients with NF1 were included. Overall, 12% (35/296) of paediatric patients and 21% (172/803) of adult patients had ≥ 1 large PN (≥ 3 cm). Approximately half of patients with a large PN had ≥ 1 symptomatic PN. The most frequent symptoms were pain, neurological deficits, cosmetic issues, disfigurement, compression, increased psychosocial burden and vision loss. Clinical evaluations of PN size were available for 40 PN in 34 paediatric patients and 191 PN in 159 adult patients with large PN. Surgery (complete resection or debulking) was performed in 38% (15/40) of PN in paediatric patients and 45% (86/191) in adult patients. In addition, 35% of PN in paediatric patients and 33% in adult patients were inoperable. In a subgroup analysis, the overall PN size increased 1.06-fold per year. Malignant peripheral nerve sheath tumours (MPNST) were diagnosed in 21 patients (two paediatric and 19 adult patients). Conclusions This study shows that PN are common, their size and prevalence increase with age, many are often inoperable and pain and other symptoms are frequently associated. The results highlight the severe sequelae and unmet need for alternatives to analgesia and surgery in patients with PN.

Unoccupied Aerial Vehicles (UAVs) are a widely applied tool used to monitor shallow water habitats. A recurrent issue when conducting UAV-based monitoring of submerged habitats is the collection of ground-truthing data needed as training and validation samples for the classification of aerial imagery, as well as for the identification of ecologically relevant information such as the vegetation depth limit. To address these limitations, a payload system was developed to collect subsurface data in the form of videos and depth measurements. In a 7 ha large study area, 136 point observations were collected and subsequently used to (1) train and validate the object-based classification of aerial imagery, (2) create a class distribution map based on the interpolation of point observations, (3) identify additional ecological relevant information and (4) create a bathymetry map of the study area. The classification based on ground-truthing samples achieved an overall accuracy of 98% and agreed to 84% with the class distribution map based on point interpolation. Additional ecologically relevant information, such as the vegetation depth limit, was recorded, and a bathymetry map of the study site was created. The findings of this study show that UAV-based shallow-water monitoring can be improved by applying the proposed tool.

Abstract Background Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG. This descriptive study investigated the correlation between NF1-OPG growth, sex and visual impairment. Method We based our cross-sectional study on a systematic, retrospective data collection in a NF1 cohort of children and adolescents below 21 years of age followed at Center for Rare Diseases, Aarhus University Hospital, Denmark. For each patient with OPG a medical chart review was performed including demographics, ophthalmological examinations and magnetic resonance imaging (MRI) of OPG. Results Of 176 patients with NF1 (85 females, 91 males), we identified 21 patients with OPG (11.9%) with a preponderance of females, p = 0.184. Eight females (62%) and one male (13%) had visual impairment at the last ophthalmological evaluation. Five out of 21 children with OPG (24%) underwent diagnostic MRI because of clinical findings at the ophthalmological screening. Nine children (43%) had symptoms suggestive of OPG and seven (33%) experienced no OPG-related symptoms before the diagnostic MRI. Of eight children diagnosed with OPG ≤ two years of age, one had visual impairment. Of 13 children diagnosed > two years of age, eight had visual impairment; in each group, four of the children were treated with chemotherapy. The study suggested no correlation between NF1-OPG growth and sex. Conclusion Our data suggest sex as a risk factor for visual impairment, while an OPG diagnose ≤ two years of age was a protective factor for visual impairment. Females with NF1-OPG had a higher prevalence of visual impairment outcome compared to males. Interestingly, our data also suggest a better response to treatment in children with OPG diagnosed ≤ two years of age compared to older children. The findings in our study suggest sex as a potential prognostic factor for visual impairment.

Purpose The Danish neurofibromatosis 1 (NF1) cohort was initiated to study health-related, socioeconomic and psychological consequences of living with the monogenetic disorder NF1 using a nationwide and population-based approach.Participants The cohort includes all 2467 individuals in Denmark who were hospitalised with or due to NF1 from 1977 to 2013 or registered in the RAREDIS Database (1995–2013), a national clinical database for rare diseases, or both. A comparison cohort matched to individuals with NF1 on sex and date of birth was identified in the Civil Registration System (n=20 132).Findings to date All cohort members were linked to the unique Danish registries to obtain information on hospital contacts, birth outcomes, education and partnership. A questionnaire was completed by 244 of the 629 adult cohort members with NF1 registered in the RAREDIS Database to evaluate the psychosocial and emotional burden. Further, neuropsychological tests were performed on 103 adult cohort members with NF1 and 38 adult population comparisons. To date, six studies have been published. Individuals with NF1 had an increased risk for (1) hospitalisation for disorders affecting all organ systems of the body throughout all decades of life, (2) psychiatric disorders, (3) attaining a short or medium long education and (4) not forming a life partner. Women with NF1 had an increased risk for spontaneous abortions and stillbirths. Finally, adults with NF1 had an impaired quality of life and a high need for professional support for physical, psychological and work-related problems, which was partly associated with disease severity and visibility.Future plans The cohort will regularly be updated with newly diagnosed patients in the RAREDIS Database as well as with outcome information in the Danish registries. New studies are in progress to assess other medical and socioeconomic dimensions of living with NF1.

Introduction Gait difficulties are common in Parkinson’s disease (PD) and cause significant disability. These symptoms are often resistant to treatment. Spinal cord stimulation (SCS) has been found to improve gait, including freezing of gait, in a small number of patients with PD. The mechanism of action is unclear, and some patients are non-responders. With this double-blind, placebo-controlled efficacy and feasibility clinical and imaging study, we aim to shed light on the mechanism of action of SCS and collect data to inform development of a scientifically sound clinical trial protocol. We also aim to identify clinical and imaging biomarkers at baseline that could be predictive of a favourable or a negative outcome of SCS and improve patient selection.Methods and analysis A total of 14 patients will be assessed with clinical rating scales and gait evaluations at baseline, and at 6 and 12 months after SCS implantation. They will also receive serial 18F-deoxyglucose and 18FEOBV PET scans to assess the effects of SCS on cortical/subcortical activity and brain cholinergic function. The first two patients will be included in an open pilot study while the rest will be randomised to receive active treatment or placebo (no stimulation) for 6 months. From this point, the entire cohort will enter an open label active treatment phase for a subsequent 6 months.Ethics and dissemination This study was reviewed and approved by the Committee on Health Research Ethics, Central Denmark RM. It is funded by the Danish Council for Independent Research. Independent of outcome, the results will be published in peer-reviewed journals and presented at national and international conferences.Trial registration number NCT05110053; ClinicalTrials.gov Identifier.

Knowledge about the spatial distribution of seagrasses is essential for coastal conservation efforts. Imagery obtained from unoccupied aerial systems (UAS) has the potential to provide such knowledge. Classifier choice and hyperparameter settings are, however, often based on time-consuming trial-and-error procedures. The presented study has therefore investigated the performance of five machine learning algorithms, i.e., Bayes, Decision Trees (DT), Random Trees (RT), k-Nearest Neighbor (kNN), and Support Vector Machine (SVM) when used for the object-based classification of submerged seagrasses from UAS-derived imagery. The influence of hyperparameter tuning and training sample size on the classification accuracy was tested on images obtained from different altitudes during different environmental conditions. The Bayes classifier performed well (94% OA) on images obtained during favorable environmental conditions. The DT and RT classifier performed better on low-altitude images (93% and 94% OA, respectively). The kNN classifier was outperformed on all occasions, while still producing OA between 89% and 95% in five out of eight scenarios. The SVM classifier was most sensitive to hyperparameter tuning with OAs ranging between 18% and 97%; however, it achieved the highest OAs most often. The findings of this study will help to choose the appropriate classifier and optimize related hyperparameter settings.

It is well documented that deteriorating heart function due to deposition of ceroid lipopigment is a significant co-morbidity in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease) although the exact disease mechanisms remain unknown in any NCL form. An increasing frequency of cardiac conduction disorders including severe bradycardia and sinus arrest is seen in the late teens, as is a left ventricular hypertrophy in the early 20s. Only a few case reports of pacemaker implantation have been published, and so far, no long-term follow-up study exists. As new treatment options emerge, more patients will live longer and the need for pacemaker will likely increase, why knowledge of long-term outcome is needed. In the present study, we present the course of six patients from the original Danish CLN3-heart population study (n = 29) published in 2011 in whom pacemaker implantation was indicated from a cardiac point of view. In two cases, the families deselected pacemaker implantation. In four males, aged 19-29 years, all having a good general condition, a dual-chamber pacemaker (St. Jude Medical™ Accent/Assurity MRI™) was implanted in general anesthesia without any complications. At follow-up 9 years later, three were still alive. According to the parents' opinion they still have a good quality of life, now 26, 30, and 36 years old. Pacemaker treatment is safe and may have great impact on quality of life. However, the medical indication for pacemaker treatment is relative and it is important that various aspects, including the patient's general condition and family preferences, are thoroughly discussed before making the final decision.

Abstract Multiple system atrophy (MSA) is a rare disease with a fatal outcome. To date, little is known about the molecular processes underlying disease development. Its clinical overlap with related neurodegenerative movement disorders underlines the importance for expanding the knowledge of pathological brain processes in MSA patients to improve distinction from similar diseases. In the current study, we investigated DNA methylation changes in brain samples from 41 MSA patients and 37 healthy controls. We focused on the prefrontal cortex, a moderately affected area in MSA. Using Illumina MethylationEPIC arrays, we investigated 5-methylcytosine (5mC) as well as 5-hydroxymethylcytosine (5hmC) changes throughout the genome. We identified five significantly different 5mC probes (adj. P

Abstract Background To evaluate the incidence of incisional hernia (IH) after cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (CRS + HIPEC) and its impact on health-related quality of life (HRQoL). Method From June 2006 until June 2016, 152 patients were followed after CRS + HIPEC at Aarhus University Hospital, a single national center. Patients were seen postoperatively in an outpatient clinic at 3, 6, 12, 18, 24, 36 48, and 60 months. Clinical examinations at these follow-up visits were used to evaluate IH events prospectively. The incidence of IH was estimated using competing risk analysis and is presented as the cumulative incidence proportion (CIP). We expected the incidence to be 15% at 12 months. HRQoL was assessed at 12 months by the Short Form (SF-36) questionnaire, which we used to compare patients with an IH to patients without an IH. Results The median follow-up time was 16.6 months [range 0.9–62.0]. During this period, 14/152 (9.2%) patients developed an IH. The 1-year CIP was 5.9% [95% CI 2.9; 10.4] (n = 8), and the 2-year CIP was 9.2% [95% CI 5.3; 14.5] (n = 14). Patients with an IH were significantly older (67 years [range 48–72]) compared to patients without IH (60 years [range 24–75], p ≤ 0.01). The rate of postoperative complications between patients with and without IH was comparable, except that a greater proportion of patients with IH had a fascial dehiscence (21.4%) compared to patients without an IH (3.6%). Reponses to the SF-36 show that patients with an IH report lower HRQoL with regard to Role-physical (mean difference − 32.9 [95% CI − 60.6; − 5.3]) and Role-emotional (mean difference − 20.2 [95% CI − 43.4; 3.1]), meaning a reduction in work and daily activities due to their physical and psychological health. We found no general decrease in HRQoL. Conclusion CRS + HIPEC do not increase the risk of IH as measured within 12 months postoperatively, contrary to expectations. However, patients with an IH report a limitation in daily activities, which can best be explained by changes in physical and psychological health. A larger cohort from multiple centres is necessary to verify our findings.