First Case of Primary Ciliary Dyskinesia in GreenlandAuthors: Caroline Nygaard1 MD, Morten Dunø2 Ph.D., Carsten Johan Heilmann3MD, June K. Marthin1 Ph.D., Sarah Nygaard1 BM, Tavs Qvist4 Ph.D., Hanne Lynge Rex3 MD, Kim G. Nielsen1,5 Dr. Med.Affiliations: 1Danish PCD Centre, Danish Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. 2Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Denmark.3Medical Department M, Queen Ingrid’s Hospital, Nuuk, Greenland. 4Danish PCD Centre, Department of Infectious Diseases, Copenhagen University Hospital, Copenhagen, Denmark. 5Institute of Clinical Medicine, University of Copenhagen Faculty of Health and Medical Sciences, Copenhagen, DenmarkEmails: caroline.marie.torp.nygaard@regionh.dk, morten.dunoe@regionh.dk, chei@peqqik.gl, junekmarthin@gmail.com, sarahnygaard@hotmail.com, tavs.qvist@gmail.com, HARL@peqqik.gl, kim.g.nielsen@regionh.dkCorresponding author: Caroline Nygaard, Adress: Department of Pediatrics and Adolescent Medicine, JMC, Rigshospitalet, Blegdamsvej 9, DK-2100 København Ø, Denmark, Telephone: +4552131414, Fax: +4535456717, E-mail: caroline.marie.torp.nygaard@regionh.dkConflicts of interest : No conflicts of interestEthical statement: The parents have given written informed consent to the use and presentation of patient data, including photos. Exemption from ethics approval: The Regional Health Research Ethics Committees in the Capital Region in Denmark waived the need for ethical approval of the project (no. F-24062931)Keywords: Primary cilia dyskinesia, Genetics, GreenlandRunning Head: Primary cilia dyskinesia in GreenlandClinical correspondence

A document by Semih Beycimen. Click on the document to view its contents.

Previous research on visual word recognition has provided a fragmented view regarding the emergence and interaction of form and meaning in morphological processes. We aim to elucidate these temporal dynamics in an EEG experiment employing a lexical decision paradigm, focusing on oscillatory dynamics and ERPs during the visual recognition of Korean verbs. Considering the inherent polymorphemic nature of Korean verbs, we manipulated verb inflection types (base, regular, and irregular) to investigate whether the two inflected forms undergo the single processing system in a continuous manner or dissociative mechanisms in a categorical way. More importantly, by manipulating the semantic ambiguity of verb stems, we aimed to disentangle the interaction between form and meaning. EEG results revealed a graded effect of verb regularity in the N400 latency range, followed by an attenuated P600 amplitude and reductions in theta, alpha, and beta oscillations for regular inflections in the late time window. The current data provide neural evidence supporting single-system theories and the connectionist framework while challenging dual-mechanism accounts of inflectional morphology. Interestingly, not only an early semantic influence in the N250 time window but also a critical interaction of form and meaning was observed in the late time windows. Specifically, irregular inflection demonstrated alpha and theta reductions for homonyms in both early and late time windows, while regular inflection exhibited the opposite effect solely in the late time window. These findings are consistent with the single-system theory and form-with-meaning accounts, suggesting a differential reliance on the semantic information of regular and irregular inflections.

The event-triggered group consistency problem of a class of second-order multi-agent systems (MASs) under denial of service attacks (DoS) is studied. The main contribution lies in the proposed group generation partition algorithm for multi-agents with directed network topology, which successfully solves the problem of multi-task assignment in complex networks. Then, the algorithm transforms the adjacency matrix into a standard diagonal type to reduce the algorithm complexity. A new adaptive event triggering mechanism (ETM) is designed using a fuzzy logic system for the directed network. The trigger threshold is adjusted by the relative motion trajectory between adjacent agents, the output feedback error of the agents, and the adaptive parameters of the fuzzy logic system, which can reduce the communication burden. Finally, the Lyapunov stability theory is used to prove the asymptotic stability and consistency of the closed-loop system, and the effectiveness of the proposed algorithm is verified by two simulation examples.

Proximal Policy Optimization (PPO) stands as one of the most successful deep reinforcement learning methods, primarily owing to its utilization of a clipped loss for an actor. While the clipped loss for an actor has been extensively studied, its counterpart for a critic has not received equal attention. This study provides a comprehensive analysis of the behavior of the clipped critic loss, revealing a misalignment with the trust region principle. Drawing on our analysis, we propose a refined variant that aligns closely with the trust region principle.

A document by Peter Taraba. Click on the document to view its contents.

Year after year, billions of long-distance migratory birds join year-round resident tropical birds during the overwintering period (dry season in the tropics) marked by harsh environmental conditions. The overlapping habitat use and apparent resource overlap during this time suggest potential interspecific competition between residents and migrants. Previous studies have explored the effects of such competition on migrants, but the impact on residents has been neglected. This review critically evaluates and summarizes the findings in the literature about interactions between migratory and resident birds in tropical ecosystems, using the necessary and sufficient conditions recommended by Dhondt 2012 to assess interspecific competition. This review reveals that interspecific territoriality, consistent aggression (interference competition), and alterations in foraging behavior and microhabitat impacted resident birds. High dietary overlap observed in some species pairs suggests potential exploitation competition, although our understanding of year-round residents’ diets and the full scope of these interactions remains limited. The complexity of these relationships underscores the need for comprehensive research to disentangle seasonal effects from competitive pressures and to assess impacts on resident fitness, distribution, and abundance. Inconsistent methodologies and inadequate spatio-temporal scales have hindered a clear understanding of this phenomenon. We emphasize the importance of long-term studies, including observations before and after migrant arrival at wintering grounds, to detect shifts in resource availability and foraging niches. Given climate change’s influence on migration patterns and food resources, elucidating these biotic interactions is crucial for developing effective conservation strategies for resident tropical avifauna. Particularly, as many resident birds exhibit high levels of endemism, higher sedentarism, and specialized foraging habits, they may be more vulnerable to ecological changes than migrants, who are more flexible, generally occupying broader foraging niches. This review highlights critical knowledge gaps and proposes directions for future research to enhance our understanding of migrant-resident bird dynamics in tropical ecosystems.

Abstract

Metagenomic next-generation sequencing (mNGS) is widely used to diagnose complicated infections in hospitalized patients. This study aimed to characterize SARS-CoV-2 variants and potential co-infections in complex suspected infection cases based on the results of mNGS, and further explore its clinical implications. From March to September 2023, a total of 5,686 samples were collected, among which 254 (4.47%) samples from 200 hospitalized patients were positive for SARS-CoV-2 using mNGS. COVID-19 patients over 65 years old and had comorbidities such as hypertension and diabetes mellitus were more likely to develop severe pneumonia. Patients with severe pneumonia were more likely to have symptoms such as fever, shortness of breath, and leukopenia (p < 0.05). The top-five co-detected bacteria with SARS-CoV-2 were Enterococcus faecalis, Acinetobacter baumannii, Klebsiella pneumoniae, Stenotrophomonas maltophilia, and Staphylococcus aureus. Among fungi, Candida albicans, Candida glabrata, Aspergillus fumigatus, Candida tropicalis, and Pneumocystis jirovecii were the most frequently detected. The sub-lineages of SARS-CoV-2 variants fluctuated during the study period, including FU.1 (20.5%), EG.5.1.1 (17.2%), FY.3 (11.5%), and XBB.1.16.1 (11.5%). In conclusion, SARS-CoV-2 infection remained common among hospitalized patients. The elderly and patients with underlying diseases are more likely to develop severe pneumonia. Pathogens detected alongside SARS-CoV-2 can cause co-infections or secondary infections, necessitating early intervention. The evolution of the SARS-CoV-2 virus is ongoing, requiring sustained attention to mitigate the risk of a new round of pandemic.

Multibody simulation (MBS) is an established method for modeling wind turbines for purposes such as load calculation. While capable of modeling wind turbines at high levels of detail, large MBS models can be computationally expensive. This makes deployment for real-time critical use cases like digital twins difficult. Machine learning models can be a faster alternative because they only capture relevant details and scale well with parallelization. In this paper, a real-time capable surrogate model is developed with the goal of capturing the operating mode and the tower oscillations of an MBS model. Firstly, several machine learning models based on different architectures are being scaled so that they can be evaluated within the available computational budget. The selected models are being trained on the MBS results. The trained models are being run in a loop with the turbine’s controller and an optional numerical tower oscillator to create the surrogate model. All tested models show good convergence behavior and high R 2 values during training. However, running the models in the surrogate environment proves more difficult as some models diverge from the expected results. The best performing model in the surrogate environment is determined using quantitative criteria.

ABSTRACT We present novel observations of cross-shore material transport by a submesoscale cyclonic eddy, via a multi-platform dataset analysis including satellite remote sensing, research vessel, drifter, and glider measurements. The cyclone radius and its vorticity Rossby number are consistent with submesoscale definitions. However, atypically for open-sea submesoscales, the cyclone was born in summer, and penetrates significantly beneath the mixed layer, due to its genesis from the boundary current. The cyclone transported high concentrations of biogeochemical tracers at the surface as well as beneath the mixed layer, from its relatively productive formation shelf area offshore to the Oligotrophic deep East Mediterannean Sea.

Objectives: This study tried to verify the predictive capacity of Inventory of Personality Organization (IPO) with respect to borderline personality disorder (BPD) as defined in the ICD-11 model for PDs and defensive functioning in BPDs. The IPO was used as a proxy measure of personality functioning, although not fully identical to the conception of personality functioning within the ICD-11 framework defined primarily by the severity of self-other impairment. Moreover, the study provides the first empirical test of the new 14-item IPO version. Methods: The IPO-57, Borderline Personality Questionnaire, and Defense Style Questionnaire were administered to general population volunteers ( n = 371) and mixed psychiatric patients ( n = 293). Results: Three-factor solution of the IPO (i.e., Instability of self and others (ISO); Instability of goals and behaviors (IGB); and psychosis) was confirmed, to a far extent reflecting Kernberg’s initial concept of personality organization. ISO showed to be the strongest predictor of self-other pathology in both samples, IGB showed to be an indicator of immature defensive functioning in both samples and mature-neurotic defenses in clinical sample when IPO-14 was applied. Conclusion: While ISO appears to be a good predictor of impaired personality functioning in terms of general self-other disturbance, IGB is a specifier of the defense mechanism-based affect management typical of BPD patients that should not be ignored.

Cannabidiol, a major non-psychoactive constituent of cannabis, has generated interest as a novel therapeutic for managing several pathological conditions including chronic pain and opioid use disorder. Here, we evaluated the effects of cannabidiol (3.2 or 10.0 mg kg-1) on the antinociceptive and the reward-related effects of the opioid analgesic oxycodone (0.56 mg kg-1) in rats using an operant pain assay, locomotor activity monitoring, and the conditioned place preference paradigm. We also assessed pharmacokinetic and pharmacodynamic interactions between cannabidiol and oxycodone in plasma and brain. Cannabidiol enhanced the antinociceptive effect of oxycodone without affecting oxycodone-induced behavioral sensitization, or the acquisition and expression of oxycodone conditioned place preference. Cannabidiol coadministration with oxycodone reduced levels of the oxycodone metabolite noroxycodone in the plasma and increased levels of oxycodone in the brain, while oxycodone coadministration increased levels of the cannabidiol metabolite 7-carboxycannabidiol in plasma. Rats that received oxycodone generally showed higher levels of biogenic amines across the brain, whereas those administered cannabidiol alone or oxycodone plus cannabidiol showed similarly lower levels. This indicates coadministration of cannabidiol has central neurochemical actions distinct from administration of oxycodone alone. Together, these findings suggest that cannabidiol potentiates the analgesic effects of oxycodone without affecting its reward-related properties, and this dichotomy appears to be due to complex pharmacological interactions between cannabidiol and oxycodone in the brain. As such, cannabidiol may hold promise as an opioid sparing approach to managing pain.

The rapid evolution of artificial intelligence has led to the development of sophisticated language models capable of generating human-like text. However, maintaining semantic consistency throughout extended text generation remains a significant challenge. Introducing Dynamic Probabilistic Contextual Realignment (DPCR), a novel methodology that dynamically adjusts contextual embeddings through probabilistic realignment, addresses this issue by mitigating semantic drift. The integration of DPCR into transformer-based large language models (LLMs) has demonstrated substantial improvements in semantic coherence and contextual relevance. Quantitative analyses reveal enhanced performance metrics, while qualitative assessments highlight more coherent and contextually appropriate text generation. The findings demonstrate the potential of DPCR to advance LLM development and applications across various domains, emphasizing the importance of dynamic context management in achieving semantic consistency.

Incomplete characterization of cryptic species complexes in pollinator communities can limit our understanding of ecosystem function, population dynamics, effects of environmental perturbations, and conservation planning. Molecular tools to distinguish morphologically identical bee species are therefore necessary but require refinement and validation to make robust inferences. Here we present newly developed primers and demonstrate their successful use for identification of two cryptic bee species, Halictus ligatus and Halictus poeyi, with overlapping ranges in the mid-Atlantic USA. We found that H. ligatus is present at higher elevations while H. poeyi is present at lower elevations, with both species present at three sample sites in central North Carolina, USA. The data generated in this study was combined with publicly available sequence data and analyzed to make inferences about the species ranges of these two bees in the Western Hemisphere. These clarified species distributions help us better understand local pollinator communities, associated habitat features, and abiotic conditions amenable to each, as well as provide insights into patterns related to their speciation.

The goal of this study was to determine whether increasing motor variability by applying varied perturbation forces to the pelvis during sitting astride would facilitate motor learning of improved trunk postural control in children with cerebral palsy (CP). Fourteen children with spastic CP were tested in two conditions: CONSTANT and VARIED force perturbations in two training sessions with each session lasted for 15 minutes. A custom robotic system was used to deliver repetitive perturbation forces to the pelvis while participants sat astride. Postural reactions to the unpredicted perturbations in the anterior and posterior directions were tested before and after each training session. Kinematics of head, trunk, and pelvis movement, and muscle electromyography signals were recorded. One session of pelvis perturbation training with either the CONSTANT (P = 0.028) or VARIED force magnitudes (P = 0.009) induced an earlier onset of trunk extensor under unpredicted perturbations. In addition, one session of pelvis perturbation training with VARIED force magnitudes induced a significant decrease in peak angle of head extension (P = 0.016), and an improvement in recruitment order of the neck and trunk muscles under unpredicted perturbations (P = 0.020). These results suggest that repeated pelvis perturbations during sitting astride may induce improvement in muscle activation onset under unpredicted perturbations in children with CP. Moreover, repeated pelvis perturbations with varied force magnitudes, which may increase motor variability, may lead to improvements in head stability and muscle activation sequence of trunk and neck muscles in response to unpredicted perturbations in children with CP.

not-yet-known not-yet-known not-yet-known unknown Institutional delivery, defined as giving birth in a health facility with skilled delivery assistants, is essential for reducing maternal mortality in low- and middle-income countries. This study aimed to assess wealth-related disparities in the use of institutional delivery services in Bangladesh using data from the Multiple Indicator Cluster Survey (MICS) 2019. Multiple logistic regression was used to identify factors associated with institutional delivery, and a concentration index (CIX) measured wealth-related disparities. Decomposition analysis helped identify key contributors to these disparities. Results showed that 52% of deliveries were institutional. Women from rich and middle-income households had a 94% (AOR=1.94; 95% CI: 1.62-2.34) and 32% (AOR=1.32; 95% CI: 1.12-1.56) higher likelihood, respectively, of delivering in a health institution compared to poor women. The CIX value of 0.170 indicated institutional delivery was more common among wealthier women. Decomposition analysis revealed that prenatal care visits (33.11%), parity (11.79%), and wealth index (11.07%) were significant contributors to wealth-related disparities. In conclusion, this study highlights the urgent need for pro-poor strategies, particularly in rural and underserved areas like Mymensingh, to reduce socio-economic disparities in access to institutional delivery services, with a focus on improving education and healthcare access for women.

Elevated CO 2 generally increases the photosynthetic rate of rice, yet with a tendency for decreased foliar nitrogen (N) concentration at elevated CO 2. The evidence for how photosynthetic N partitioning affect the response of rice to elevated CO 2, however, is still limited. Here in this study, based on the two-years field experiments conducted at free-air CO 2 enrichment (FACE) system and the open-top chambers (OTC), along with a pot experiment with a variety of rice cultivars and the evidence from a global meta-analysis, we aim to investigate the relationship between foliar N allocation strategy and the CO 2 fertilization effect (CFE) of rice. We found that the CFE of rice were highly correlated with the foliar N allocation strategy. The photosynthetic N allocation to both the carboxylation system ( PNcb) and the electron transport system ( PNet) is strongly positively correlated with CFE, with an R 2 of 0.65 for both. This finding is also supported by the results from structural equation model, which further indicates that these two factors jointly determine the CFE of rice. We then able to generate a robust model to predict the CFE of rice on the basis of PNcb and PNet, which showed a 73% confidence level for the global meta-data across 56 experimental sites. Furthermore, this model was also robust and valid for various field N application rates. Our findings thus indicate that the foliar N allocation strategy has a controlling role on regulating the CFE of rice. This study offers a new perspective on understanding rice’s response to climate change and also will be beneficial for accurately projecting global crop yield in the context of future climate change.

not-yet-known not-yet-known not-yet-known unknown Deep learning models are used to minimize the number of polyps that goes unnoticed by the experts and to accurately segment the detected polyps during interventions. Although state-of-the-art models are proposed, it remains a challenge to define representations that are able to generalize well and that mediate between capturing low-level features and higher-level semantic details without being redundant. Another challenge with these models is that they are computation and memory intensive, which can pose a problem with real-time applications. To address these problems, we propose PlutoNet for polyp segmentation which requires only 9 FLOPs and 2,626,537 parameters, less than 10% of the parameters required by its counterparts. With PlutoNet, we propose a novel decoder consistency training approach that consists of a shared encoder, the modified partial decoder, which is a combination of the partial decoder and full-scale connections that capture salient features at different scales without redundancy, and the auxiliary decoder which focuses on higher-level semantic features. We train the modified partial decoder and the auxiliary decoder with a combined loss to enforce consistency, which helps strengthen learned representations. We perform ablation studies and experiments which show that PlutoNet performs significantly better than the state-of-the-art models, particularly on unseen datasets.

AIMS: Our objective was to explore the renal efficacy and safety of bortezomib-based treatment in newly diagnosed multiple myeloma (NDMM) patients with Renal impairment (RI).METHODS: We retrospective evaluated NDMM patients with RI at the Second Hospital of Shandong University between between January 2019 and December 2022.RI was defined as having a estimated glomerular filtration rate (eGFR) <60 mL/min/1.73 m2.RESULTS: There were 28 patients inclused, and the mean eGFR was 24.40mL/min/1.73 m2. All patients received a total of 77 courses of bortezomib-based therapy, and 87.01% regimens were three-drug combinations. The renal responce rates were 67.86%, 76.19%, 75.00%, and 76.92% from the first to forth courses, respectively, and the mean time to achieve renal complete response was 1.33 months.In the moderate reduction in eGFR group, the renal CR rates were 75.00%(6/8), 100.00%(5/5), 100.00%(2/2), and 100.00%(2/2) from the first to forth courses, respectively. In the severe reduction in eGFR group, the renal CR rates were 75.00%(9/12), 62.50%(5/8), 71.43%(5/7), and 66.67%(4/6) from the first to forth courses, respectively. In the renal failure or end-stage renal disease group, the renal CR rates were 50.00%(4/8), 62.50%(5/8), 85.71%(6/7), and 80.00%(4/5) from the first to forth courses, respectively.Median follow-up time of all patients was 14 months.Early death occurred in 5 patients(17.86%). There was no difference in OS between patients in different renal stage. The highest incidence of adverse events was lung infection, followed by neutropenia and thrombocytopenia.CONCLUSIONS:Bortezomib-based regimens had good short-term renal efficacy and safety in the treatment of MM patients with RI.

The island ecosystem, due to its inherent fragility, is highly susceptible to both natural disturbances and human activity, resulting in fragmented habitats for island plant populations. This study investigates the population structure and dynamics of Heliotropium arboreum in such fragmented environments, aiming to understand its survival and adaptability. We selected six H. arboreum populations across different habitats, analyzing their diameter class structures, static life tables, and survival curves through a field survey using sample line investigations. Structural and dynamic characteristics of each population were examined, and future trends predicted using time series analysis. Results indicated that the second, third, and fourth age classes comprised the majority, representing 63%-86% of individuals, suggesting a growing population with an irregular pyramid-like structure. However, some age classes show decline, with weak growth rates, high sensitivity to external disturbances, and low stability. With increasing age, standardized survival numbers declined, mortality rates rose, and survival curves approximated the Deevey Type II pattern. Without intervention, the population is projected to face serious reductions as individuals age, potentially leading to extinction. Thus, we recommend minimizing human interference, implementing targeted protection strategies, increasing research and education, and promoting natural renewal through seedling propagation and artificial cultivation.

Background: Surgery remains the cornerstone of treatment for rhabdomyosarcoma (RMS) in children. However, there is considerable variation in surgical management practices worldwide, highlighting the need for standardized clinical practice guidelines (CPG). Methods: The CPG development involved assembling a multidisciplinary group, prioritizing ten key topic areas, conducting evidence searches, and synthesizing findings. Recommendations were voted on using the GRADE (Grading of Recommendations, Assessment, Development, and Evaluations) methodology. Recommendations: The panel recommended regional lymph node evaluation for patients with paratesticular RMS who are more than 10 years old and extremity RMS. Other suggestions included pre-treatment re-excision for incompletely resected RMS, preoperative radiation therapy for unresectable tumors, maintaining a 0.5 cm resection margin, and tumor bed marking with surgical clips. The panel also suggests resection of residual metastatic disease following chemotherapy, resection of relapsed disease, and the least invasive approach for managing patients presenting with obstruction. Conclusion: This CPG provides evidence-based surgical management recommendations for RMS that can be adapted to diverse resource settings.

not-yet-known not-yet-known not-yet-known unknown Background: Timely diagnosis is critical in pediatric oncology to optimize treatment outcomes. Diagnostic delays may impact tumor extension and prognosis, necessitating analysis of diagnostic intervals across different neoplasms. Methods: We analyzed data from 749 pediatric patients diagnosed with rhabdomyosarcoma between 1996 and 2016. Diagnostic interval (DI) was defined as days from symptom onset to diagnosis, and treatment interval (TI) from symptom onset to treatment initiation. Factors influencing DI and TI were collected, including patient age, histology, tumor characteristics, and protocol of treatment. Survival outcomes were assessed using Kaplan-Meier analysis. Results: Median DI was 32 days, decreasing insignificantly from 1996-2004 to 2005-2016. Longer DI was associated with metastatic disease (p=0.0021). The proportion of patients diagnosed within one month increased over time, but remained lower for metastatic cases. Median TI was 48 days, unchanged over time. Longer TI correlated with larger tumors (p<0.0001). Adolescents had prolonged DI (>2 months) more frequently. The quantile regression models showed that on univariate analysis DI was associated with age at diagnosis, unfavourable histology and metastatic diaeses, but not confirmed in multivariate Five-year event-free survival (EFS) and overall survival (OS) were 59.7% and 69.3%, respectively. Conclusions: This study evaluated the role of timely diagnosis and treatment initiation in pediatric patients with rhabdomyosarcoma . Our data highlights that DI and TI are crucial in adolescents and often longer in metastatic patients. Future efforts should focus on streamlining access to diagnostic facilities and improving processes to ensure timely interventions, especially for patients presenting with more advanced disease.

This study analyses various factors that affect the threshold voltage of MOSFETs at deep cryogenic temperatures, including band-tail state, field-assisted ionization, and interface traps. Based on the analysis, a new model is developed for Si-based MOSFETs covering a wide temperature range from 10K to 300 K. The model's validity is confirmed through experiments of bulk silicon and FDSOI MOSFETs.