Monitoring daily physical activity of upper extremity in young and adolescent boys with Duchenne muscular dystrophy:A pilot study

Introduction Accelerometry of the upper extremity (UE) potentially provides information on the extent of activities in daily life in patients with Duchenne muscular dystrophy (DMD). The objective of this study is to evaluate the validity of home measurements of UE accelerometry. Methods This was a cross-sectional study in 16 patients with DMD (aged 7-17 years). Patients were monitored for 1 to 3 days with two accelerometers on the UE and one accelerometer on the wheelchair. Results The mean intensity of activity and the mean frequency of transfers of arm elevation from low to middle were approximately twofold higher in patients with a Brooke scale score of 1 or 2 than in patients with a Brooke scale score of 3 or 4. Correlations with the Performance of Upper Limb scale score were high for intensity and for the total frequency of arm elevations per hour. Discussion Intensity, percentage of time in middle orientation, and frequency of transfers of the upper arm correlated well with functional measurements

Условия формирования зон скопления метана в углепородном массиве

Розглянуті основні геологічні чинники, які впливають на формування зон скупчення метану у вуглепородному масиві. Виділені, найбільш ефективні показники для середнього катагенеза порід – опосередковані локальні структури, зони тріщинуватості порід, стрижневі ділянки пісковиків (палеопотоки). Для виділених показників виконаний розрахунок дисперсійного аналізу по альтернативній ознаці. На основі розрахунків встановлено вплив кожного фактора на формування зон скупчення метану у вуглепродному масиві.Basic geological factors, which influence on forming of zone of accumulation of methane in coalrock massif, are presented. The most effective indexes for middle katagenesis of rock are determinated - medial local structures, zone of jointing of rock, race areas of sandstones (paleocurrent). For determinated indexes calculation of dispersion on an alternative character is executed. On the basis of calculations influence of every factor on forming of zone of accumulation of methane in a coalrock massif is definited

Food for thought: The underutilized potential of tropical tree-sources foods for 21st century sustainable food systems

1. The global food system is causing large-scale environmental degradation and is a major contributor to climate change. Its low diversity and failure to produce enough fruits and vegetables is contributing to a global health crisis. 2. The extraordinary diversity of tropical tree species is increasingly recognized to be vital to planetary health and especially important for supporting climate change mitigation. However, they are poorly integrated into food systems. Tropical tree diversity offers the potential for sustainable production of many foods, providing livelihood benefits and multiple ecosystem services including improved human nutrition. 3. First, we present an overview of these environmental, nutritional and livelihood benefits and show that tree-sourced foods provide important contributions to critical fruit and micronutrient (vitamin A and C) intake in rural populations based on data from sites in seven countries. 4. Then, we discuss several risks and limitations that must be taken into account when scaling-up tropical tree-based food production, including the importance of production system diversity and risks associated with supply to the global markets. 5. We conclude by discussing several interventions addressing technical, financial, political and consumer behaviour barriers, with potential to increase the consumption and production of tropical tree-sourced foods, to catalyse a transition towards more sustainable global food systems

Clinical, Histologic, and Molecular Characteristics of Anaplastic Lymphoma Kinase-positive Primary Cutaneous Anaplastic Large Cell Lymphoma

Unlike systemic anaplastic large cell lymphoma, the vast majority of primary cutaneous anaplastic large cell lymphomas (C-ALCL) do not carry translocations involving the ALK gene and do not express ALK. Expression of ALK protein therefore strongly suggests secondary cutaneous involvement of a systemic anaplastic large cell lymphoma. Recent studies described a small subgroup of ALK-positive C-ALCL, but information on frequency, prognosis, and translocation partners is virtually lacking. A total of 6/309 (2%) C-ALCL patients included in the Dutch registry for cutaneous lymphomas between 1993 and 2019 showed immunohistochemical ALK expression. Clinical and histopathologic characteristics, immunophenotype and disease course were evaluated. Underlying ALK translocations were analyzed with anchored multiplex polymerase chain reaction-based targeted next-generation sequencing. Median age at diagnosis was 39 years (range: 16 to 53 y). All patients presented with a solitary lesion. Treatment with radiotherapy (n=5) or anthracycline-based chemotherapy (n=1) resulted in complete responses in all 6 patients. Three patients developed a relapse, of whom 2 extracutaneous. After a median follow-up of 41 months, 5 patients were alive without disease and 1 patient died of lymphoma. Immunohistochemically, 3 cases (50%) showed combined nuclear and cytoplasmic ALK expression with underlying NPM1-ALK fusions, while 3 cases (50%) showed solely cytoplasmic ALK expression with variant ALK fusion partners (TRAF1, ATIC, TPM3). ALK-positive C-ALCL is extremely uncommon, has a comparable favorable prognosis to ALK-negative C-ALCL, and should be treated in the same way with radiotherapy as first-line treatment

Taking One Step Back in Familial Hypercholesterolemia:STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans

International audienceSTAP1, encoding for STAP1 (signal transducing adaptor family member 1), has been reported as a candidate gene associated with familial hypercholesterolemia. Unlike established familial hypercholesterolemia genes, expression of STAP1 is absent in liver but mainly observed in immune cells. In this study, we set out to validate STAP1 as a familial hypercholesterolemia gene. Approach and Results: A whole-body Stap1 knockout mouse model (Stap1 -/ - ) was generated and characterized, without showing changes in plasma lipid levels compared with controls. In follow-up studies, bone marrow from Stap1 -/ - mice was transplanted to Ldlr -/ - mice, which did not show significant changes in plasma lipid levels or atherosclerotic lesions. To functionally assess whether STAP1 expression in B cells can affect hepatic function, HepG2 cells were cocultured with peripheral blood mononuclear cells isolated from heterozygotes carriers of STAP1 variants and controls. The peripheral blood mononuclear cells from STAP1 variant carriers and controls showed similar LDLR mRNA and protein levels. Also, LDL (low-density lipoprotein) uptake by HepG2 cells did not differ upon coculturing with peripheral blood mononuclear cells isolated from either STAP1 variant carriers or controls. In addition, plasma lipid profiles of 39 carriers and 71 family controls showed no differences in plasma LDL cholesterol, HDL (high-density lipoprotein) cholesterol, triglycerides, and lipoprotein(a) levels. Similarly, B-cell populations did not differ in a group of 10 STAP1 variant carriers and 10 age- and sex-matched controls. Furthermore, recent data from UK Biobank do not show association between STAP1 rare gene variants and LDL cholesterol

VReedom: training for authorized leave of absence through virtual reality – a feasibility study

This study assessed the feasibility, implementation process and outcomes of the VReedom training; a virtual reality (VR)-based intervention designed to prepare forensic psychiatric patients for their first authorized leave. Clinical forensic mental healthcare organization Inforsa, operating at security level 3, introduced the VReedom training for forensic patients eligible for their first authorized leave, between March 1st and November 13th, 2022. Employing a retrospective observational cohort study design with patient dossier data as the primary source, the study also used participant observation, weekly evaluative questionnaires and focus group discussions as data sources. Five objectives were utilized to evaluate the feasibility: recruitment capacity and resulting sample characteristics, data collection and evaluation procedures, acceptability and suitability of the training and protocol, training management and implementation, and preliminary participant results. Despite the lack of a control group, findings align with literature suggesting VR’s potential for enhancing treatment motivation and reducing stress in preparation for first authorized leave. Of 13 patients approached, 10 participated without dropouts, and no incidents occurred during training. Emotion elicitation was successful, supporting VR Exposure therapy’s efficacy. Findings align with literature, emphasizing VR’s value in forensic psychiatry. Establishing favorable implementation conditions was crucial, with positive reception from treatment providers. Also, the need for personalization and additional locations was identified, and the training seemed most suitable for patients with a tbs-measure. Future research with control groups is recommended to further validate the effectiveness of the VReedom training intervention, and further protocol development is necessary to make it suitable for a broader population. Current findings contribute to the refinement and expansion of evidence-based practices in the field of VR-assisted training and treatment in forensic psychiatry

Describing complex interactions of social-ecological systems for tipping point assessments: an analytical framework

Humans play an interconnecting role in social-ecological systems (SES), they are part of these systems and act as agents of their destruction and regulation. This study aims to provide an analytical framework, which combines the concept of SES with the concept of tipping dynamics. As a result, we propose an analytical framework describing relevant dynamics and feedbacks within SES based on two matrixes: the “tipping matrix” and the “cross-impact matrix.” We take the Southwestern Amazon as an example for tropical regions at large and apply the proposed analytical framework to identify key underlying sub-systems within the study region: the soil ecosystem, the household livelihood system, the regional social system, and the regional climate system, which are interconnected through a network of feedbacks. We consider these sub-systems as tipping elements (TE), which when put under stress, can cross a tipping point (TP), resulting in a qualitative and potentially irreversible change of the respective TE. By systematically assessing linkages and feedbacks within and between TEs, our proposed analytical framework can provide an entry point for empirically assessing tipping point dynamics such as “tipping cascades,” which means that the crossing of a TP in one TE may force the tipping of another TE. Policy implications: The proposed joint description of the structure and dynamics within and across SES in respect to characteristics of tipping point dynamics promotes a better understanding of human-nature interactions and critical linkages within regional SES that may be used for effectively informing and directing empirical tipping point assessments, monitoring or intervention purposes. Thereby, the framework can inform policy-making for enhancing the resilience of regional SES

Describing complex interactions of social-ecological systems for tipping point assessments: an analytical framework

Humans play an interconnecting role in social-ecological systems (SES), they are part of these systems and act as agents of their destruction and regulation. This study aims to provide an analytical framework, which combines the concept of SES with the concept of tipping dynamics. As a result, we propose an analytical framework describing relevant dynamics and feedbacks within SES based on two matrixes: the “tipping matrix” and the “cross-impact matrix.” We take the Southwestern Amazon as an example for tropical regions at large and apply the proposed analytical framework to identify key underlying sub-systems within the study region: the soil ecosystem, the household livelihood system, the regional social system, and the regional climate system, which are interconnected through a network of feedbacks. We consider these sub-systems as tipping elements (TE), which when put under stress, can cross a tipping point (TP), resulting in a qualitative and potentially irreversible change of the respective TE. By systematically assessing linkages and feedbacks within and between TEs, our proposed analytical framework can provide an entry point for empirically assessing tipping point dynamics such as “tipping cascades,” which means that the crossing of a TP in one TE may force the tipping of another TE. Policy implications: The proposed joint description of the structure and dynamics within and across SES in respect to characteristics of tipping point dynamics promotes a better understanding of human-nature interactions and critical linkages within regional SES that may be used for effectively informing and directing empirical tipping point assessments, monitoring or intervention purposes. Thereby, the framework can inform policy-making for enhancing the resilience of regional SES

A seed dispersal effectiveness framework across the mutualism–antagonism continuum

Many angiosperms rely on vertebrates for seed dispersal via gut passage, an interaction that has been traditionally classified as a mutualism. The seed dispersal effectiveness (SDE) framework provides a mechanistic approach to evaluate evolutionary and ecological characteristics of animal-mediated seed dispersal, by synthesising the quantity and the quality of the dispersal that a plant species receives from each of its animal dispersers. However, the application of the SDE framework has been largely restricted to plant–frugivore interactions, whereas animal-mediated seed dispersal results from plant–disperser interactions that cover a continuum from pure mutualisms to antagonisms. This biases ecological and evolutionary knowledge on plant–disperser interactions. Here, we propose an extended SDE framework (‘eSDE') that allows comparing plant–disperser interactions in the full mutualism–antagonism continuum ranging from pure mutualisms (frugivores) to conditional mutualisms (scatter-hoarding granivores and folivores) and antagonisms (pure granivores). We present the eSDE framework, and use examples to illustrate how it can be applied to compare effectiveness among plant–disperser interaction types. Our initial comparison based on available data suggests that vertebrate species differ more in the number of seeds they deposit away from the mother plant (quantity), than in the effects such dispersal processes have on seed fate (quality). Scatter-hoarding granivores provide the most effective dispersal due to high removal rates, closely followed by frugivores due to high deposition rates. Folivores and pure granivores provide low quantity dispersal, but of high and moderate quality, respectively. These early comparative insights illustrate the necessity and usefulness of more standardized data collection protocols, for which we provide recommendations. Applying the eSDE framework can reveal broad-scale patterns across and within plant–disperser interaction types, which will advance our evolutionary understanding of plant–animal interactions. This will provide new insights into the consequence of anthropogenic impacts on vertebrate-mediated seed dispersal in a world in which plant–animal interactions are increasingly threatened