Journals
2025 EN
Leblanc Clarisse · Sermondade Nathalie · RivetDa Diane
+10 more
Abstract Background Sickle cell disease (SCD) is a prevalent hereditary disorder with significant morbidity, including potential impacts on male fertility. This study aims to evaluate the semen parameters in men with SCD and assess the outcomes of fertility preservation strategies. Methods This retrospective study included 121 men with SCD referred to the fertility Centre at Tenon University Hospital, Paris, between 2012 and 2023. Patients were categorized into three groups based on hydroxyurea (HU) exposure: without HU (WHU), ongoing HU(OHU), and previous HU (PHU). Clinical and semen parameters data were collected and compared with those of 107 healthy sperm donors. Semen parameters were analyzed according to World Health Organization guidelines, and sperm freezing protocols were standardized. Statistical analysis was performed to compare semen parameters between groups. Results Of the 121 patients, 117 successfully collected semen. All semen parameters, including volume, concentration, total count, motility, vitality, and morphology, were significantly reduced in SCD patients without HU exposure compared to donors. Nine had azoospermia and 45 had oligozoospermia, compared to 11 sperm donors with oligozoospermia ( p < 0.05). The impact of HU on semen parameters could not be demonstrated due to the small‐sample size. Fertility preservation outcomes showed a mean of 1.96 collections per patient, yielding a mean of 8.7 straws, with a majority requiring in vitro fertilization with intracytoplasmic sperm injection (ICSI) for future use. Seven patients used their cryopreserved sperm, resulting in two successful births. Conclusions This study, the largest of its kind, confirms significant alterations in semen parameters in men with SCD. Due to deleterious effects of treatments on male reproductive functions, fertility preservation remains crucial for these patients. Further research is needed to refine fertility preservation strategies and address the long‐term reproductive health of men with SCD.
Journals
2025 EN
Urban Marek · Brom Cyril · Lukavský Jiří
+5 more
Recent studies have conceptualized ChatGPT as an epistemic authority; however, no research has yet examined how epistemic beliefs and metacognitive accuracy affect students' actual use of ChatGPT‐generated content, which often contains factual inaccuracies. Therefore, the present experimental study aimed to examine how university students integrate correct and incorrect information from expert‐written and ChatGPT‐generated articles when writing independently ( N = 49) or with ChatGPT assistance ( N = 49). Students working with ChatGPT‐4o integrated more correct information from both expert‐written ( d = 0.64) and ChatGPT‐generated articles ( d = 0.95), but ChatGPT‐assisted writing did not affect the amount of incorrect information sourced from the ChatGPT‐generated article. Regardless of the condition, hierarchical regressions revealed that lower metacognitive bias was moderately associated with increased inclusion of correct information from the expert‐written article ( R 2 = 12%). Conversely, a higher metacognitive bias ( R 2 = 10%) and epistemic beliefs ( R 2 = 12%) were moderately related to the inclusion of incorrect information from ChatGPT‐generated articles. These findings suggest that while ChatGPT assistance enhances the integration of correct human‐ and AI‐generated content, metacognitive skills remain essential to mitigate the risks of incorporating incorrect AI‐generated information.Practitioner notes What is already known about this topic Generative AI tools, such as ChatGPT, are increasingly regarded as epistemic authorities due to their authoritative tone and human‐like interaction. ChatGPT has demonstrated utility in providing correct information and improving productivity in educational and professional contexts, but it is also prone to inaccuracies, hallucinations and misleading content. Students' epistemic beliefs and metacognitive skills predict their ability to critically evaluate and integrate conflicting information from multiple resources, particularly when searching for information on the Internet. What this paper adds This study experimentally examines how students integrate correct and incorrect information from expert‐written and ChatGPT‐generated articles when writing independently or with ChatGPT's assistance. The findings show that ChatGPT assistance improves the inclusion of correct information but does not significantly reduce or increase the inclusion of incorrect ChatGPT‐generated content. Metacognitive accuracy and epistemic beliefs are key factors in mitigating the inclusion of incorrect information, regardless of whether students work independently or with ChatGPT. Implications for practice and/or policy Generative AI tools can outperform human experts in specific scenarios, requiring little to no evaluation. However, in situations where these tools generate misleading or incorrect content, the application of metacognitive skills and epistemic beliefs becomes essential to discern reliable information and avoid the integration of errors. Educational interventions should include activities requiring justification of knowledge, evaluation of resources and reflection upon human‐generated and AI‐generated texts to enhance students' ability to discern accurate from inaccurate information. Interventions focused on metacognitive accuracy and epistemic awareness can empower individuals to critically evaluate and differentiate between reliable and erroneous information, enhancing their recognition of misinformation.
Journals
2025 EN
Vodicka Prokop · Hamova Iva · Velasova Adriana
+19 more
Circulating tumour DNA (ctDNA) is a promising biomarker for diffuse large B‐cell lymphoma (DLBCL) risk stratification and treatment response assessment, but real‐world studies were limited. Using a targeted sequencing approach (521‐gene panel), we showed that (1) baseline ctDNA level correlated with tumour burden and was an independent predictor of treatment outcome, (2) achievement of minimal residual disease (MRD) negativity was associated with a better treatment outcome and (3) interim MRD‐positivity combined with positron emission tomography/computed tomography scan‐positivity identified a high‐risk subgroup of DLBCL patients. Baseline ctDNA level and treatment related achievement of MRD negativity are valuable prognostic tools in DLBCL to improve risk stratification in routine clinical practice.
Journals
2025 EN
Foguesatto Kamila · Almeida Celina C. · Boyle Robert T.
+2 more
Abstract The crustacean molting cycle is triggered by the elevation of ecdysteroid levels in the hemolymph during late pre‐molt. It is known that these animals absorb water through the intestine and gills to promote bodily swelling and rupture of the old exoskeleton. The participation of two membrane proteins responsible for the most uptake of water during the late pre‐molt has been shown in the gill and gut cells of the freshwater shrimp Palaemon argentinus : Na + /K + ‐ATPase (NKA), which generates an osmoionic gradient, and Aquaporins (AQPs), water channels, which provide higher water permeability. Studies investigating the action of ecdysteroids on these proteins are scarce. Therefore, we investigated 20‐hydroxyecdisone (20E) in relation to the regulation of NKA and AQPs in the gill and gut cells of P. argentinus . We exposed primary cultures of both gut and gill cells to 20E. Gill cells treated with hormone in the presence of NKA‐blockers, exhibited a reduction in volume, and cells treated with 20E showed a greater expression of NKA than untreated cells. Additionally, gills cells treated with 20E showed an increase in volume (∼60%), which the aquaporin inhibitor (HgCl 2 ) prevented. The participation of AQPs in the influx of water was corroborated by a greater expression of AQP in cells treated with 20E compared to untreated cells. Gut cells of animals in intermolt exposed to hormone (20E) maintained their initial cell volume. With the addition of HgCl2, these cells showed a reduction in volume similar to cells of animals in pre‐molt. Immunocytochemistry showed a high expression of AQP in gut cells treated with 20E. These findings suggest that 20E regulates the expression of AQP and NKA in the late pre‐molt, to provide water uptake for molting. This work offers new perspectives concerning the molting hormone, placing it as a crucial part of water uptake for ecdysis.
Journals
2025 EN
Serban Stefan T. · Perdomo Sandra · BorgesYañez Aida
+8 more
ABSTRACT Objectives Oral diseases are the most prevalent diseases globally, affecting almost half of the world's population with a disproportionate burden on the most vulnerable groups. Despite growing attention on the social and commercial determinants of health, there is still a largely unexplored area in understanding the political determinants of health and oral health. The aim of this paper is to describe national policy development processes for policies impacting population oral health. Methods A multiple case study approach was used to analyse six case studies focused on national policy development processes targeting oral health. Kingdon's Multiple Streams Model was used to examine how problems, policy solutions, and political factors aligned to influence policymaking. Results Some of the most common barriers to policy adoption and implementation were misinformation strategies, legal challenges, industry lobbying, ideological opposition to state intervention, and lack of transparency regarding conflicts of interest. Important common facilitators included robust scientific evidence presented in an accessible manner to the appropriate audiences, identification of key decision‐makers, support from parties from across the political spectrum, intersectoral collaboration, and ongoing policy monitoring and evaluation. Conclusions This study provides novel insights into how political determinants influence social and commercial determinants of health, demonstrating how political contexts and power dynamics shape national public health policy development processes. Understanding these dynamics is essential for ensuring that evidence‐based public health interventions are politically feasible and resilient to opposition from certain private industry and ideological interests. In a time of growing inequalities, neutrality in the face of structural injustice risks entrenching a status quo that favours those with the greatest influence. To address these problems sustainably, public health practitioners must recognise and engage with the political nature of policymaking.
Journals
2025 EN
Zídková Jana · Lauerová Barbora · Mensová Lívie
+24 more
ABSTRACT Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X‐linked (XL). We present 79 unrelated patients with genetically confirmed CM using next‐generation sequencing (NGS). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. According to the HGMD database, 54 of these variants have been reported exclusively in the Czech CM population to date. All but five variants were small‐scale. Large gene deletions were identified in the MTM1 , NEB , and RYR1 genes. Sequencing of breakpoint junctions in the identified NEB and RYR1 deletions provided insights into the upstream mechanisms leading to genomic instability and resulting in structural variations. We present the family with dominant inheritance of the NEB deletion of exons 19–78. We assume that our family represents another reported case of a dominant mutation in the NEB gene. Our results contribute to further knowledge in the field of neuromuscular diseases and mutational mechanisms.
Journals
2025 EN
Suska Anna · Tyczyńska Agata · Zaucha Jan Maciej
+32 more
ABSTRACT Objectives The study evaluated the impact of lifestyle and environmental exposure on the etiology of multiple myeloma (MM). Methods A multicenter case–control study was conducted in 20 hematology centers and in 5 outpatient clinics in Poland. The questionnaire on exposure to potential risk factors including sociodemographic data, lifestyle, and environmental factors was completed. Results A total of 274 patients with newly diagnosed MM and 208 patients from primary healthcare centers in the control group were enrolled in the study. Regarding lifestyle, sports practiced systematically for at least half a year play a protective role in the development of myeloma (OR = 0.40, 95% CI, 0.28–0.58, p < 0.001). Among environmental factors harmful exposures that increase the likelihood of the development of MM include pesticides (OR = 3.29, p < 0.001), asphalt (OR = 2.42, p = 0.026), coal dust (OR = 2.27, p = 0.004), organic vapors (OR = 2.11, p = 0.001), metal dust (OR = 2.07, p = 0.023), exhaust fumes (OR = 2.03, p < 0.01), and chemicals (OR = 1.80, p < 0.01). Conclusions The pathogenesis of MM is complex with the impact of modifiable factors. Lifestyle, with physical activity, seems to play a key role.
Journals
2025 EN
Hok Pavel · Thai Quang Thong · Bučková Barbora Rehák
+6 more
Abstract Background and purpose Cognitive impairment (CI) in multiple sclerosis (MS) is associated with bidirectional changes in resting‐state centrality measures. However, practicable functional magnetic resonance imaging (fMRI) biomarkers of CI are still lacking. The aim of this study was to assess the graph‐theory‐based degree rank order disruption index ( k D ) and its association with cognitive processing speed as a marker of CI in patients with MS (PwMS) in a secondary cross‐sectional fMRI analysis. Methods Differentiation between PwMS and healthy controls (HCs) using k D and its correlation with CI (Symbol Digit Modalities Test) was compared to established imaging biomarkers (regional degree, volumetry, diffusion‐weighted imaging, lesion mapping). Additional associations were assessed for fatigue (Fatigue Scale for Motor and Cognitive Functions), gait and global disability. Results Analysis in 56 PwMS and 58 HCs (35/27 women, median age 45.1/40.5 years) showed lower k D in PwMS than in HCs (median −0.30/−0.06, interquartile range 0.55/0.54; p = 0.009, Mann–Whitney U test), yielding acceptable yet non‐superior differentiation (area under curve 0.64). k D and degree in medial prefrontal cortex (MPFC) correlated with CI ( k D /MPFC Spearman's ρ = 0.32/−0.45, p = 0.019/0.001, n = 55). k D also explained fatigue ( ρ = −0.34, p = 0.010, n = 56) but neither gait nor disability. Conclusions k D is a potential biomarker of CI and fatigue warranting further validation.
Journals
2025 EN
Anand Vaishakh · Gulati Sheffali · Agarwala Anuja
+8 more
Abstract Objective The ketogenic diet has been the mainstay of treatment of drug‐resistant epilepsy (DRE). No comparative trials have been conducted to assess the efficacy of the two less strict ketogenic diets: modified Atkins diet (MAD) and low glycemic index treatment (LGIT). This study assesses the non‐inferiority of LGIT compared with MAD. Methods This was an open‐label randomized non‐inferiority trial. Children with DRE were randomized to receive either MAD or LGIT as an add‐on to anti‐seizure medications. The primary endpoint was percentage seizure reduction at the end of 24 weeks of therapy compared to the baseline. The non‐inferiority margin of −15% was predefined to calculate the sample size. Results Ninety‐one children were enrolled and randomized to receive either MAD ( n = 45) or LGIT ( n = 46). Intention‐to‐treat analysis done at the end of 24 weeks of therapy showed a mean (±standard deviation [SD]) percentage seizure reduction of 60.7% (±41.3) in the MAD sub‐group and 57% (±39.4) in the LGIT sub‐group ( p = 0.664). The absolute difference between the means of percentage seizure reduction was −3.7 (−20.5 to 13.2) and crossed the non‐inferiority margin. Ten children in the MAD group and nine children in the LGIT group did not complete 24 weeks of therapy. Adverse effects were comparable between the arms (MAD, 66.6%; LGIT, 50%), although serious adverse effects were higher in the MAD arm. The most common adverse effect was decreased acceptance (24.2%) followed by decreased satiety (9.9%), vomiting (9.9%), weight loss (5.5%), constipation (5.5%), and diarrhea (3.3%). Dyslipidemia was more commonly seen in the MAD group (MAD, six; LGIT, one). One death in the LGIT arm was unrelated to therapy. Although there was no statistically significant difference in improvement in cognition, behavior, and quality of life scales, improvement was noted from baseline scores. Significance LGIT may be non‐inferior to MAD in the treatment of children with DRE with the advantage of increased acceptance and fewer adverse effects.
Journals
2025 EN
Almeida Wesley N. · NogueiraFilho Sérgio L. G. · Barros Kamila S.
+1 more
ABSTRACT This study examines whether rock cavies ( Kerodon rupestris ), which are social rodents, modulate their alarm calls in response to various threat contexts. Conducted across four sample areas within two study sites in the Brazilian Caatinga region, alarm calls were collected using the ad libitum method. The acoustic responses of free‐ranging rock cavies were then analyzed using discriminant function analysis and generalized mixed linear models to classify vocal types and assess differences in vocalization rates and acoustic parameters. The findings reveal that rock cavies produce both slow and fast alarm whistles in response to threats. Fast alarm whistles, emitted exclusively in response to nearby ocelots ( Leopardus pardalis ), exhibited a lower pitch ( F 1,16.20 = 11.41, p = 0.004), shorter duration ( F 1,22.59 = 14.93, p = 0.001), and shorter pulse intervals ( F 1,21.29 = 6.08, p = 0.022) compared to the slow alarm whistles. Slow alarm whistles were produced when rock cavies were threatened by distant ocelots, as well as by both distant and closer humans, dogs ( Canis familiaris ), marmosets ( Callithrix spp.), tayras ( Eira barbara ), and birds of prey ( Caracara plancus ). The type of threat influenced the pulse intervals ( F 6,23.26 = 12.69, p < 0.001) and the high frequency ( F 6,18.15 = 12.08, p < 0.001) of slow alarm whistles. Rock cavies produced shorter pulse intervals when threatened by ocelots, birds of prey, or tayras compared to humans and dogs ( p < 0.05) and higher‐pitched slow alarm whistles when threatened by dogs, ocelots, humans, or birds of prey compared to capuchin monkeys and tayras ( p < 0.05). Additionally, shorter pulse intervals ( F 1,25.73 = 28.87, p < 0.001) were emitted when threats were nearby compared to more distant threats. This study highlights the influence of various threats and their proximity on the modulation of rock cavy alarm calls, showcasing their behavioral adaptability. This crucial survival strategy not only enhances our understanding of rock cavies' behavior but also has the potential to inspire research in other species and ecological contexts.