bluuebunny/crossref_metadata_2025 huggingface dataset:
Literackość przeciwko kulturze autobiografii
Authors: Sala Zuzanna
Published: February 2025

Artykuł omawia relację między sposobem funkcjonowania kategorii „antyliterackości” i „literackości” we współczesnej krytyce literackiej a tym, co rozpoznane zostaje jako „kultura autobiografii” po przełomie 1989 roku. Na podstawie omówienia dwóch ostatnich dyskusji krytycznych wokół książek Kwiaty rozłączki Aleksandry Wstecz (2020) i Oto ciało moje Aleksandry Pakieły (2022) autorka próbuje odpowiedzieć na pytanie o to, jak ekspansja języków terapeutycznych i prymat opowieści o indywidualnym doświadczeniu traumatycznym przemodelowują warunki uprawiania krytyki literackiej.
Gas phase carbon dioxide photoreduction to produce value-added chemicals using graphene oxide-based catalysts
Authors: Ramos-Huerta Luis Antonio , Aguilar-Martínez Octavio , Espinoza Bautista Montserrat , Ibarra Issis C. Romero , Santolalla-Vargas Carlos E.
Published: February 2025

In this study, we investigated the performance of graphene oxide (GO)-based catalysts, including commercially available GO, GO synthesized via the All Kemie Sus method, and GO/TiO2 composites, for CO2 reduction under both UV and visible light irradiation. The catalysts were systematically characterized using XRD, SEM, FTIR, EDS, UV, and XPS techniques to elucidate their structural and chemical properties. Our findings reveal the remarkable versatility of these materials, demonstrating their ability to produce a diverse array of value-added products, including methane, ethane, formaldehyde, and methanol. Commercial GO achieved the highest ethane yield of 2.25 × 102 µmol and an initial reaction rate of 2.7 × 104 

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followed by GO/TiO2 with a yield of 4.16 µmol an initial reaction rate of 4.99 × 102 

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. Notably, the GO/TiO2 composite was only tested due to its promising potential for enhancing charge separation and catalytic efficiency, however, further studies are recommended. Moreover, the greener synthesis methods employed for GO All Kemie Sus highlight the importance of sustainable approaches in catalyst development. Overall, this study provides valuable insights into the performance and potential applications of GO-based catalysts for CO2 photocatalytic reduction, laying the foundation for further advancements in this research area towards sustainable energy technologies and environmental conservation.
Nanoparticles in intraocular drug delivery
Authors: Klaus Stefanie E. , Breunig Miriam , Göpferich Achim
Published: February 2025

Visual impairment is a severe global health problem. Underlying ocular diseases can affect both the anterior and posterior eye. Unfortunately, the efficient delivery of drug molecules to the posterior eye, especially the retina, is still a major challenge. This review provides an overview of the difficulties and limitations of current delivery options for the treatment of eye diseases in the light of drug nanotherapy. Furthermore, ocular changes that are relevant for nanotherapeutic approaches are illustrated using the example of diabetic retinopathy (DR). The therapeutic focus is on promising approaches of using nanoparticles (NP) for the therapy of the posterior segment of the human eye. The overall aim of this review is to scrutinize how NP could fill gaps in the field of ocular drug therapy.
The value of genetic testing in pediatric and adult ophthalmology
Authors: Kellner Ulrich , Kellner Simone , Weinitz Silke , Farmand Ghazaleh
Published: February 2025

Inherited retinal dystrophies and optic neuropathies (IRD) are the most frequent cause for vision loss in the working age. The huge variability of phenotypes and initial clinical presentation frequently delay the ophthalmologic diagnosis. The most frequent phenotypes are retinitis pigmentosa, macular dystrophies, cone-rod dystrophies and syndromes associated with IRDs. Causative gene variants have been identified in more than 300 genes, with a frequency variation between different ethnicities. In this series of 1 914 patients seen in Germany between 1995 and 2024, in 47.4 % of families the genetic background could be solved. Even with a common genotype, the phenotype can be variable. Genetic diagnostic testing is important for the correct diagnosis, for patient selection for current or future therapies, but also from the patient perspective.
Improving personalised genetic counselling for
ABCA4
-associated retinopathy: Updated recurrence risk estimates
Authors: Cornelis Stéphanie S. , Cremers Frans P. M.
Published: February 2025

Stargardt disease type 1 (STGD1) is caused by biallelic pathogenic variants in ABCA4. These variants vary in their effect on the resulting protein and the disease phenotype. Not all variant combinations cause disease, which complicates the determination of the recurrence risk of STGD1. Previously, the recurrence risk of STGD1 was estimated by analyzing variants in patient data and using their population variant frequencies in which white patients are overrepresented. Furthermore, assuming that variant effects are independent of genetic ancestry, estimates were made for each gnomAD population. In this article, the effects of missing heritability, de novo variants, reduced penetrance of variants and sex/gender are incorporated and discussed.
Leber’s hereditary optic neuropathy – current status of idebenone and gene replacement therapies
Authors: Klopstock Thomas , Zeng Leopold H. , Priglinger Claudia
Published: February 2025

Leber’s hereditary optic neuropathy (LHON) is the most common mitochondrial disease, and was the first to be linked to mitochondrial DNA (mtDNA) variations. Recently, autosomal recessive forms of LHON were described in addition to the classical mtDNA-associated forms. Clinically, LHON manifests with subacute and painless loss of central visual acuity, in most cases starting unilaterally, and involving the second eye a few weeks later. Almost all LHON cases are caused by pathogenic variants in genes that code for proteins relevant for function of Complex I of the respiratory chain. The Complex I dysfunction in LHON leads to decreased ATP synthesis and to increased production of reactive oxygen species which ultimately initiates dysfunction and apoptosis of retinal ganglion cells and their axons, the optic nerve. Idebenone, a synthetic CoQ derivative, is a potent intramitochondrial antioxidant and can shuttle electrons directly to complex III of the respiratory chain, thereby bypassing complex I deficiency. On the basis of several clinical trials, it has been approved as a treatment for LHON in 2015 (in the EU). In addition, direct intravitreal gene replacement therapy is being investigated, with several late-stage clinical trials already completed. In the future, gene editing of mtDNA variants may also become a therapeutic option.
Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in
RPE65
Authors: Lorenz Birgit
Published: February 2025

RPE65 biallelic mutation-associated inherited retinal degeneration (IRD) is currently the only IRD for which gene therapy is approved. This narrative review provides a brief overview of the disease and an update of the current literature on outcomes following the approval of treatment with voretigene neparvovec (LuxturnaTM) in 2017 (USA) and Europe (2018). Post-marketing results confirm a significant therapeutic effect of this gene augmentation on rod function similar to that seen in the phase 1 to 3 clinical trials. The full-field chromatic light sensitivity test is an appropriate test to demonstrate early and sustained effects of treatment. Visual acuity and visual fields may improve in less advanced disease. Accelerated chorioretinal atrophy (CRA) is a previously unrecognised adverse effect that is now reported in 13 % to 50 % of treated eyes. If central, visual acuity loss and paracentral visual field defects may occur. Further studies are needed to identify patients at risk of CRA in order to maximize patient benefit from a costly intervention.
Detection of mitotic neuroblasts provides additional evidence of steady state neurogenesis in the adult small intestinal myenteric plexus
Authors: Gorecki Anastazja M. , Slosberg Jared , Hong Su Min , Seika Philippa , Puttapaka Srinivas , Migden Blake , Gulko Anton , Singh Alpana , Zhang Chengxiu , Gurumurthy Rohin , Kulkarni Subhash
Published: February 2025

Maintenance of normal structure of the enteric nervous system (ENS), which regulates key gastrointestinal functions, requires robust homeostatic mechanisms, since by virtue of its location within the gut wall, the ENS is subject to constant mechanical, chemical, and biological stressors. Using transgenic and thymidine analogue-based experiments, we previously discovered that neuronal turnover – where continual neurogenesis offsets ongoing neuronal loss at steady state – represents one such mechanism. Although other studies confirmed that neuronal death continues into adulthood in the myenteric plexus of the enteric nervous system (ENS), the complicated nature of thymidine analogue presents challenges in substantiating the occurrence of adult neurogenesis. Therefore, it's vital to employ alternative, well-recognized techniques to substantiate the existence of adult enteric neurogenesis in the healthy gut. Here, by using established methods of assessing nuclear DNA content and detecting known mitotic marker phosphor-histone H3 (pH3) in Hu+adult ENS cells, we show that ∼10% of adult small intestinal myenteric Hu+cells in mice, and ∼20% of adult human small intestinal myenteric Hu+cells show evidence of mitosis and hence are cycling neuroblasts. We observe that proportions of Hu+cycling neuroblasts in the adult murine ENS neither vary with ganglia size, nor do they differ significantly between two intestinal regions – duodenum and ileum, or between sexes. Confocal microscopy provides further evidence of cytokinesis in Hu+cells. The presence of a significant population of cycling neuroblasts in adult ENS provide further evidence of steady state neurogenesis in the adult ENS.

Significance statementUsing 3-dimensional confocal microscopy, immunohistochemical detection of cell cycle marker phosphor-Histone H3, and DNA content assessments using flow cytometry in Hu+ cells from adult small intestinal murine myenteric plexus, we show that ∼10% of myenteric Hu+ cells in adult gut are mitotic neuroblasts, whose proportional representation does not significantly differ between sexes or small intestinal regions. We further test and observe mitotic marker pH3 also immunolabels ∼23% of adult human myenteric Hu+ cells suggesting that presence of mitotic neuroblasts also extends to the adult human gut. These data further evidence of steady state adult enteric neurogenesis in the healthy gut and provide important cellular details in understanding how precursor cells continually generate large numbers of adult neurons in healthy gut.
Reference frames for encoding of translation and tilt in the caudal cerebellar vermis
Authors: Buron Félix , Martin Christophe Z. , Brooks Jessica X. , Green Andrea M.
Published: February 2025

Many daily behaviors rely on estimates of our body’s motion and orientation in space. Vestibular signals are essential for such estimates but to contribute appropriately two key computations are required. First, ambiguous motion information from the otolith organs must be combined with spatially transformed rotational signals (e.g., from the canals) to distinguish head translation from tilt. Second, tilt and translation estimates must be transformed from a head- to a body-centered reference frame to correctly interpret the body’s motion. Studies have shown that cells in the caudal cerebellar vermis (nodulus/ventral uvula, NU) reflect the output of the first set of computations to estimate translation and tilt. However, it remains unknown whether these estimates are encoded exclusively in head-centered coordinates or whether they reflect further transformation towards body-centered coordinates. Here we addressed this question by examining how the 3D spatial tuning of otolith and canal signals on translation- and tilt-selective NU Purkinje cells in male rhesus monkeys varies with changes in head-re-body and body-re-gravity orientation. We show that NU cell tuning properties are consistent with head-centered otolith signal coding during translation. Furthermore, while canal signals in the NU have been transformed into a specific world-referenced rotation signal indicating reorientation relative to gravity (tilt), as needed to resolve the tilt-translation ambiguity, the resulting tilt estimates are encoded in head-centered coordinates. Our results thus suggest that body-centered motion and orientation estimates required for postural control, navigation and reaching are computed elsewhere, either by further transforming NU outputs or via computations in other parallel pathways.

Significance statementEstimates of body motion and orientation are essential for daily activities. Vestibular signals contribute vitally to such estimates but must first undergo transformations to distinguish translation from tilt and convert head-centered estimates into body-centered representations. Previous studies implicated the caudal cerebellar vermis (nodulus/uvula, NU) in computing estimates of translation and tilt. However, here we show for the first time that NU cells encode such estimates exclusively in head-centered coordinates. The NU thus reflects motion estimates appropriate for head and gaze stabilization but not the body-centered representations relevant for tasks such as body postural control and reaching. We suggest that head- versus body-centered motion and orientation estimates may be computed via at least partially distinct cerebellar pathways serving different functional roles.
Role of claustrum in incubation of opioid seeking after electric barrier-induced voluntary abstinence in male and female rats
Authors: Negishi Kenichiro , Duan Ying , Batista Ashley , Pishgar Mona S. , Tsai Pei-Jung , Caldwell Kiera E. , Claypool Sarah M. , Reiner David J. , Madangopal Rajtarun , Bossert Jennifer M. , Yang Yihong , Shaham Yavin , Fredriksson Ida
Published: February 2025

We previously reported that ventral subiculum (vSub) activity is critical to incubation of oxycodone seeking after abstinence induced by adverse consequences of drug seeking. Here, we studied the role of claustrum, a key vSub input, in this incubation.

We trained male and female rats to self-administer oxycodone for 2 weeks and then induced abstinence by exposing them to an electric barrier for 2 weeks. We used retrograde tracing (cholera toxin B subunit; CTb) plus the activity marker Fos to identify projections to vSub activated during ‘incubated’ relapse (abstinence day 15). We then used muscimol+baclofen (GABAa+GABAb receptor agonists) reversible inactivation to determine causal role of claustrum in incubation and the behavioral and anatomical specificity of this role. We also used muscimol+baclofen in an anatomical disconnection procedure to determine the causal role of claustrum-vSub connections in incubation. Finally, we analyzed an existing functional MRI dataset to determine if functional connectivity changes in claustrum-related circuits predict incubation of oxycodone seeking.

Claustrum neurons projecting to vSub were activated during relapse tests after electric barrier-induced abstinence. Inactivation of claustrum but not areas dorsolateral to claustrum decreased incubation of oxycodone seeking after electric barrier-induced abstinence; claustrum inactivation had no effect on incubation after food choice-induced abstinence. Both ipsilateral and contralateral inactivation of claustrum-vSub projections decreased incubation after electric barrier-induced abstinence. Functional connectivity changes in claustrum-cortical circuits during electric barrier-induced abstinence predicted incubated oxycodone relapse.

Our study identified a novel role of claustrum in relapse to opioid drugs after abstinence induced by adverse consequences of drug seeking.

Significance statementWe recently reported that vSub is critical to incubation of oxycodone craving after abstinence induced by adverse consequences of drug seeking. Here, we first showed that claustrum projections to vSub are active during tests for incubation of oxycodone seeking after electric barrier-induced abstinence. Next, we used pharmacological inactivation to test the causal roles of claustrum and its anatomical connections with vSub in incubation. Using an existing functional MRI dataset, we also tested if functional connectivity changes in claustrum-related circuits predicted ‘incubated’ oxycodone relapse after electric barrier-induced abstinence. Our data suggest that claustrum- and claustrum-related circuits contribute to relapse after voluntary abstinence induced by adverse consequences to drug seeking but not abstinence induced by availability of alternative non-drug rewards.
Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association
Authors: Leite Jardelina Brena Rocha , De Freitas Nicole Ramalho , Cardoso Rafaella Nelice de Holanda , Trovão Diniz Erik , Ferreira Gabriel Rodrigues de Assis , Costa e Alvim Fernão Henrique , Madruga Camila Ribeiro Coutinho , Garrido Ana Carolina Thé , Albuquerque Luciano , Gadelha Patricia Sampaio , Lyra Ruy , Vilar Lucio
Published: February 2025

The case report outlines a 33-year-old woman with neurofibromatosis type 1 (NF1) presenting complex symptomatology including a cervical mass, bone pain and significantly elevated calcium and parathyroid hormone levels, indicative of parathyroid carcinoma accompanied by cystic fibrous osteitis. Intriguingly, an incidental finding of an adrenal nodule prompted investigation, leading to the diagnosis of pheochromocytoma. Surgical intervention confirmed the presence of pheochromocytoma and parathyroid carcinoma. Genetic analysis corroborated NF1 with a pathogenic variant in the NF1 gene. The patient’s clinical manifestations, coupled with the presence of café-au-lait spots and axillary freckles, supported the diagnosis of NF1. This case not only highlights the challenging diagnostic landscape of NF1 but also underscores the rarity of the co-occurrence of parathyroid carcinoma and pheochromocytoma within the context of NF1. It emphasizes the necessity for heightened clinical suspicion and comprehensive evaluation in patients with NF1, particularly in those presenting with endocrine abnormalities. Further investigation into the underlying mechanisms linking these conditions is warranted to elucidate their pathophysiological interplay and inform optimal therapeutic strategies for affected individuals. This case underscores the importance of multidisciplinary collaboration in the management of complex NF1-associated manifestations, with an emphasis on early detection and tailored intervention to optimize patient outcomes.

Learning points

Rare but real: multiple endocrine tumors can coexist in patients with neurofibromatosis type 1 (NF1), not only pheochromocytoma.

Early detection matters: prompt diagnosis and a multidisciplinary approach are crucial for managing NF1 patients presenting with symptoms suggestive of these rare endocrine tumors.

Genetic insights guide care: genetic testing aids in confirming NF1 and guiding treatment decisions, emphasizing the role of genetics in personalized medicine for NF1 patients.
A novel approach to intraoperative diagnosis of primary pigmented nodular adrenocortical disease
Authors: Wijesekara Pathirana Nethrani Sameera , Udayakumara Hasitha , Banagala A S K , Sumanatilleke M R , Damayanthi A V T , Constantine S R , Katulanda G W , Thowfeek Z T M , Sasikanth T , Pathmanathan S
Published: February 2025

Cushing syndrome (CS) is an endocrine disorder with far-reaching complications that extend beyond the disease remission. Diagnosis of the aetiology of CS can be challenging, whether it is dependent or independent of adrenocorticotrophic hormone (ACTH). Here, we describe a case of ACTH-independent CS due to primary pigmented nodular adrenocortical disease (PPNAD) in a 33-year-old female patient with several complications of CS, including diabetes, hypertension, osteoporosis and severe depression with suicidal ideation. In this case, following the demonstration of ACTH independence of CS, it was challenging to localise the lesion as there were bilateral adrenal lesions. Furthermore, preoperative efforts in localisation in the form of adrenal venous sampling (AVS) failed. However, the diagnosis of PPNAD was confirmed using an intraoperative frozen section and macroscopy, and the patient underwent bilateral adrenalectomy during the same surgery. This case highlights a novel approach to diagnosing and managing PPNAD intraoperatively in a resource-limited setting where preoperative localisation studies have failed.

Learning points

AVS can assist in localising the functional lesion in ACTH-independent CS due to bilateral adrenal lesions.

PPNAD diagnosis can be made through a frozen section intraoperatively, thus giving further confirmation needed to justify bilateral adrenalectomy in such cases.
Efectos de módulos de expresión corporal sobre el bienestar de personas adultas mayores
Authors: Sheik-Graves Perssis , Araya-Vargas Gerardo , Solano-Mora Luis , Carvajal-Angulo Esteban
Published: February 2025

The aim of the study was to understand the acute and chronic effects of body expression modules on the psychological and subjective well-being in a group of elderly women. The study involved 12 women with an average age of 74,33 ± 7,15 years old in the experimental group and 24 women with an average age of 71,08 ± 6,28 years old in the control group. Methods: women participated in seven body expression modules. To assess the subjective well-being the Positive Affects and Negative Affects Scale and the Ryff Scale to determine psychological well-being were applied. The physical activity habits were also evaluated through a self-elaboration questionnaire. Besides, data triangulation was used for qualitative evaluation, relating data collected from field notes, during interviews and from video-recordings of all sessions. Results: The results showed a statistically significant acute decrease in negative affections (F=5,057; p=,043) attributable to treatment, however, there was no statistically significant change in positive affects, neither psychological well-being (all p values>0,05). The participants perceived a sense of well-being after the corporal expression modules practice.
Actividad física y su relación con el consumo de alcohol, tabaco, y con variables asociadas a la salud mental en estudiantes universitarios: Un estudio transversal
Authors: Arboleda-Serna Víctor Hugo , Vargas-Romero Astrid Viviana , Gutiérrez Macías Liliana
Published: February 2025

Introduction: Academic responsibilities modifies severals behaviors in students that affect their health.
Objective: Identify the levels of physical activity (PA), alcohol, smoking, anxiety, depression, and health-related quality of life (HRQoL) in university students. Additionally, explore associations between PA with the other variables.
Methods: Cross-sectional and correlational study in 717 students that used a simple random sample. The Global Physical Activity Questionnaire, CAGE Questionnaire, Global Adult Tobacco Survey, Generalized Anxiety Disorder-7, Patient Health Questionnaire-9, and SF-12 were applied. 
Results: 42.4% presented a high level of PA, 23.8% a moderate level, and 33.8% a low level, there were statistically significant differences by sex (p<0.05), with a moderate association (Cramér's v = 0.20). 30.6% showed AC problems and 13.1% alcohol dependence. 92.2% do not smoke, 7.0% smoke, and 0.8% did not respond. There was no correlation between PA and CA, and PA and smoking (p>0.05). 43.5% had mild anxiety, 31.5% had no anxiety, 13.8% had moderate anxiety, and 11.2% had severe anxiety. 15.7% presented moderately severe and severe depression (grouped), 34.7% mild and 35.7% without depression. There was a relationship between PA and depression (p<0.05; Cramér's v = 0.13). PA and HRQoL showed statistically significant associations (p<0.05) of weak magnitude (<0.30).
Conclusions: The results suggest thinking about strategies to increase PA with emphasis on women. It is important to take action to treat alcohol consumption and alcohol dependence problems, as well as anxiety and depression given the proportions found. The mental component of HRQoL should be treated with attention since it showed a decrease of 7.5 points below the reference population average.
Comparison of Laparoscopic Intraperitoneal Onlay Mesh Repair (IPOM plus) vs Open Rives–Stoppa (RS) Repair for Ventral and Incisional Hernia
Authors: Havrylov Hryhorii O. , Shulyarenko Oleg V. , Yosypenko Mykhaylo O.
Published: February 2025

Aim. To compare the effects of laparoscopic intraperitoneal onlay mesh plus repair versus open Rives–Stoppa repair for abdominal wall hernias.Materials and methods. A total of 99 patients with midline primary, umbilical or incisional hernias who underwent surgery in “Medikom” clinic and Kyiv city hospital #5 in the period from 2016 to 2022 were involved in the study. The group I included 50 patients who underwent intraperitoneal onlay mesh (IPOM) plus, and the group II 49 patients who underwent open Rives–Stoppa (RS) repair.Result. Both groups were comparable in mean age, gender, body mass index, patient distribution based on hernia type, defect size, ASA score distribution (p > 0.05).The operating time in minutes was 75.36 ± 4.99 in group I and 97.85 ± 6.5 in group II (p < 0.05). The blood loss in IPOM plus approach group is on average in 2 times less than in open RS technique (p < 0.05). The pain score 12 hours after surgery was 5.5 ± 0.64 in group I comparing to 7.26 ± 0.78 in group II (p < 0.05). The pain score 24 hours after surgery was 4.46 ± 0.7 in group I comparing to 4.95 ± 0.61 in group II (р < 0.05). The pain score 8 days after surgery in group I was on average in 1.46 times less than in group II (p < 0.05).No significant difference was found in incidence of early complications between two groups (p > 0.05).47 (94%) patients of group I and 46 (93.87%) patients of group II were evaluated over 22 months follow-up period. No one complication was noted.Conclusions. IPOM plus approach for the ventral and incisional hernias repair is a viable and relatively more safe operation by comparing with open RS repair. IPOM plus approach takes significantly in 1.3 less time as compared open RS technique.
Ankle and Distal Tibia Megaprostheses in Orthopedic Oncology: A Report of Two Cases and Review of the Literature
Authors: Ipponi Edoardo , Cordoni Martina , Bechini Elena , Gentili Fabrizia , Cosseddu Fabio , D'Arienzo Antonio , Andreani Lorenzo
Published: February 2025

Background: The distal tibia is one of the rarest sites for the onset of malignant and locally aggressive bone tumors. When diagnosed, these lesions should undergo surgical resection with wide margins to eradicate the disease. In the era of limb-sparing surgery, several reconstructive approaches have been proposed and described in modern literature for reconstructing the distal tibia and the ankle. The 3D-printed custom-made prostheses represent an innovative and promising reconstructive option. Several authors highlighted that despite being expensive and prone to some complications such as talar collapse or loosening and soft tissue necrosis, the megaprostheses of the distal tibia could lead to good functional outcomes, also allowing a better range of motion compared to the most common arthrodesis.Materials and methods: We report two cases who suffered from malignant bone tumors localized in the distal tibia and treated with wide resections and the implant of 3D printed custom-made megaprostheses to replace the distal tibia and the ankle.Results: Both patients had excellent functional results (MSTS 30/30) one year after surgery. No local recurrence occurred during the patients’ latest follow-up.Conclusions: Our results support the effectiveness of custom-made implants in replacing the distal tibia and the ankle in orthopedic oncology.
Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN
Authors: Druta Jovita Patricija , Petraitytė Gunda , Sasnauskienė Aušra , Preikšaitienė Eglė
Published: February 2025

Background. Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. Syndromes assigned to this group are usually a compound disturbance of multiple systems. Werner syndrome is among a few well described premature aging disorders associated with a higher likelihood of malignancies.Clinical case. We present a 45-year-old man with a history of painful muscle spasms, general muscle pain and weakness. There was a progression of contractures of the plantar tendons, as well as the atrophy of the subcutaneous adipose tissue of the extremities. The patient was initially diagnosed with secondary small fiber sensory polyneuropathy and myotonia, but further genetic testing revealed the homozygous pathogenic variant c.1578del in the WRN gene associated with Werner syndrome.Conclusions. The c.1578del variant, previously not described in literature in a homozygous state, causes Werner syndrome and is associated with the pronounced hallmarks of early senescence in the proband’s fibroblasts. Molecular diagnosis brings better treatment of manifestations and monitoring options for the patients, helping to establish more sufficient and secure patient care.
Bibliometric analysis of the problem of scientific support of kickboxing (analysis of Scopus database resources)
Authors:   Kharkiv State Academy of Physical Culture, Ukraine, Romanenko Oleksandr , Podrigalo Leonid ,   Kharkiv State Academy of Physical Culture, Ukraine
Published: February 2025

Purpose: to conduct a bibliometric analysis of publications on the scientific support of kickboxing in the Scopus web database. The aim was to identify and analyze key approaches and trends in kickboxing research by creating bibliometric maps using the VOSviewer software. Material and Methods. The study sample was formed using the Scopus database as of August 19, 2024. A search query «kickbox*» was used to combine publications based on the criteria of «kickboxing»,«kickboxer» and «kickboxers». This resulted in a dataset of 327 publications spanning the period from 1986 to 2024. The VOSviewer software served as the tool for constructing and visualizing bibliometric maps. Results: the analysis revealed and illustrated the following: growing scientific interest in kickboxing among academic communities, the geographic distribution of leading studies, significant authors, and current trends in scientific inquiry. Four clusters were identified and described using keywords, grouping research areas as follows: The first largest cluster reflects an interdisciplinary approach to studying the sport, covering physiology, biomechanics, training, and sports medicine in the context of athletes' performance. The second cluster focuses on issues related to the risks and consequences of traumatic brain injuries associated with contact striking martial arts. The third cluster centers on sports injuries among children and adolescents practicing martial arts. The fourth cluster emphasizes improving physical and mental health through kickboxing and other martial arts. Conclusions. the increasing number of publications confirms the trend of growing global popularity of kickboxing within the scientific community. Leading authors and geographic data of advanced studies highlight the connection between scientific research and practical achievements in the sports arena. The study demonstrates current scientific directions in kickboxing research and underscores the importance of an interdisciplinary approach to address a wide range of issues.
Efficiency of implementation of complexes of exercises for independent development of accuracy of ball throwing by basketball players of student team
Authors:   H.S. Skovoroda Kharkiv National Pedagogical University, Ukraine, Sobko Iryna , Hrynchenko Ihor ,   H.S. Skovoroda Kharkiv National Pedagogical University, Ukraine, Tihonova Asya ,   H.S. Skovoroda Kharkiv National Pedagogical University, Ukraine, Bursala Tymur ,   H.S. Skovoroda Kharkiv National Pedagogical University, Ukraine
Published: February 2025

The problem of improving shooting accuracy in basketball is a key one, as a team's effective offense directly depends on the players' ability to maintain a high level of accuracy during the game. Purpose: to develop and experimentally test the use of complexes of exercises to improve the accuracy of throws of students who play basketball on their own in the summer. Participants: basketball players of the student team of H.S. Skovoroda Kharkiv National Pedagogical University (n=12). The experiment was conducted for 3 months from June to August 2024. At the beginning, in the middle and at the end of the experiment, the athletes passed the throwing accuracy test. Methods: theoretical analysis and synthesis of literary sources; methods of mathematical statistics; accuracy testing (throws from medium and long distance out of 21, free throws, throws from medium distance in 40 s, test “Special throwing endurance”). Results: The complexes of exercises for independent performance for the development of special physical fitness (exercises for the development of coordination, running exercises on steps, jumping exercises) and exercises for the development of accuracy of throws (throws from different points on the court, in motion after driving, with and without touching the backboard, with eyes closed, after loading, with a weaker hand) were developed and implemented in the training process of basketball students. The significant improvement of indicators on the results of tests on accuracy of throws “throws from a middle and long distance from 21”, “free throws from 21”, “throws from a middle distance in 40 s”, “Test ‘Special throwing endurance’ in the middle and at the end of the experiment (p<0.05; p<0.01) was revealed. Conclusions: The effectiveness of the use of complexes of exercises for the increase of accuracy which allow to improve a technique of throwing, to improve coordination of movements.
The influence of the game method on the quality of preparedness of primary school children engaged in swimming
Authors:   Kharkiv State Academy of Physical Culture, Ukraine, Sheiko Liliia
Published: February 2025

The aim of our study was, based on experimental data, to verify the influence of the game method on the quality of preparedness of primary school children who are engaged in swimming and to develop a methodology for teaching swimming to 7-year-old children in primary training groups based on the use of outdoor games and various game tasks. Material and methods: The data was collected from groups of children attending swimming lessons in the swimming pool in Kharkiv (Yana Klochkova's Municipal Children and Youth Sports School for Aquatic Sports). 40 children participated in the study. To assess swimming fitness, an initial test was conducted, based on the results of which two groups of children with approximately the same level of fitness were formed. The subjects were divided into experimental and control groups. The groups were identical in terms of gender and age (boys, 7 years old). The number of participants in each group was 20 people. At the beginning of the experiment, no statistically significant differences were found between the groups of swimmers in any of the studied indicators. The content of training sessions in both groups corresponded to the official program of DYUSSHOR for swimming. In the control group, training was carried out according to the official program, while in the experimental group, in accordance with the conditions of the experiment, in addition to the main program, each lesson was conducted in a game form. This meant that in the experimental group more time was allocated to games, game exercises and tasks. The experiment lasted 2 months, classes were held three times a week, the duration of each lesson was 45 minutes. To analyze changes in the quality of swimming fitness of participants in the control and experimental groups after the completion of the training course, repeated control testing was conducted. During data collection, the following research methods were used: theoretical analysis and generalization of data from literary sources; pedagogical experiment; pedagogical observation; chronometry method; test method (control tests); methods of mathematical statistics. Results: The study revealed that both the control and experimental groups observed positive dynamics of changes in results, but in the experimental group there was a significant improvement in results in all indicators of swimming (technical) fitness of young athletes (p<0.05). Conclusions: the indicators obtained during experimental testing showed that the purposeful and systematic use of the game method in swimming lessons ensures an increase in the quality of swimming fitness of primary school children, which once again proves the effectiveness of this method in the process of classes with primary school children.
Characteristics of education and continuous professional development of tennis coaches
Authors:   Prydniprovska State Academy оf Physical Culture аnd Sports, Ukraine, Khaniukova Olha , Yakovenko Artem ,   Prydniprovska State Academy оf Physical Culture аnd Sports, Ukraine, Maloivan Yaroslav ,   Prydniprovska State Academy оf Physical Culture аnd Sports, Ukraine
Published: February 2025

Nowadays the importance and necessity of education and continuous professional development of physical education and sports specialists has become a highly relevant and timely issue, as the requirements and conditions of life are constantly changing. There is a growing need to apply modern technologies and approaches to the learning process and to obtain up-to-date and relevant information. All this applies fully to tennis. The aim of the study is to determine the current state of education and continuous professional development of tennis coaches. Materials and methods: in accordance with the aim and objectives, the research programme included an analysis of scientific and methodological literature, Internet resources, and an analysis of participation in the different educational programmes of the Ukrainian Tennis Federation and the International Tennis Federation. Results: The article presents the peculiarities of the preparation of specialists in the field of physical culture and sport in Ukraine, as well as pays attention to the issue of continuous professional development of tennis coaches. The Ukrainian Tennis Federation has been fruitfully working in this area for many years, cooperating with the International Tennis Federation and higher educational institutions of Ukraine. A lot of education courses of different levels have been held for coaches who are work with beginners, intermediate and advanced players. Approaches to coaching and professional development have gradually changed with the development of modern technology, which has gained rapid momentum in recent years. The introduction of an online learning platform by the International Tennis Federation is a convenient and effective way for a coach to access up-to-date literature, webinars, conferences, etc. This provides a convenient and effective way for coaches to keep updated. In addition, the International Tennis Federation, in collaboration with the International Olympic Committee, runs various educational programmes. One of these programmes is WISH, which aims to develop and support female coaches in elite sport. Conclusions. Preparation in physical education and sport is a necessary and important part of the work with children. Coaches can improve their skills and develop as professionals and individuals by using modern technologies and education approaches.
From Terrace to Tray
Authors: Forste Kathleen M. , Pérez-Juez Amalia , Smith Alexander J. , Kirchner Helena , Alcolea Guillem
Published: February 2025

Medieval archaeology in Spain has recently benefited from the expansion of rural studies and food studies, countering the field’s historical focus on urban sites. More specifically, there is growing interest in the lifeways of the medieval Muslim population of the Balearic Islands, who inhabited this part of Muslim Iberia (al-Andalus) from the 10th through 13th centuries CE. In this paper, we combine botanical, faunal, ceramic, and spatial data from the alquería (farming village) at the site of Torre d’en Galmés, Menorca with contemporary textual evidence to investigate how the inhabitants of this settlement fed themselves, from agricultural terrace to tray. More specifically, we discuss (1) what aspects of foodways we can reconstruct at Torre d’en Galmés; (2) how this information compares to the mainland, i.e., are there any differences between this rural island settlement and mainland rural settlements; and (3) what we can interpret about local cultivation practices through food remains. Present evidence suggests that this rural community raised their own livestock and cultivated crops through dry farming. Despite their self-sufficiency, they were connected to the wider culinary culture in al-Andalus through their food choices, food preparation styles, and organization of cooking space.
“Faces Negras na Escola” – interseccionalidade, interculturalidade, interdisciplinaridade e direitos humanos
Authors: Rodrigues da Silva Cláudio
Published: February 2025

KLEIN, Ana Maria; NIGRO, Cláudia Maria Ceneviva; GALINDO, Monica Abrantes. (org.) Interdisciplinaridade, interculturalidade e interseccionalidade: faces negras na escola. Curitiba: Appris, 2020. 205 p.
Students’ Self-efficacy and Social Intelligence and Librarians’ Competency: Foundation for Bibliotherapy Program
Authors:   Cebu Technological University, Abatayo Jolo Van Clyde S. , Silagan Leizel ,   Saint Michael College of Caraga, Philippines
Published: February 2025

This study explores the relationship between students’ self-efficacy, social intelligence, and librarians’ competency in implementing bibliotherapy programs at Saint Michael College of Caraga. It aims to evaluate the potential of bibliotherapy to enhance students’ socio-emotional skills and assess librarians’ preparedness to support such initiatives. A descriptivecomparative research design was utilized, involving 343 students and five librarians selected through stratified random sampling. Validated survey instruments measured students’ self-efficacy and social intelligence, while librarians’ bibliotherapy competency was assessed using the Bibliotherapy Knowledge Survey. Findings revealed moderate levels of self-efficacy (mean = 3.05) and social intelligence (mean = 3.07) among students, with no significant gender differences (p = .250). However, significant variations were noted across different academic disciplines (p < .05). Librarians demonstrated limited competency in bibliotherapy (mean = 2.40), highlighting the need for further training and professional development. Implementing a structured bibliotherapy program could enhance students’ socio-emotional skills and improve librarians’ ability to facilitate these interventions. The study recommends a bibliotherapy program tailored to students’ academic needs and professional development for librarians. Future research should examine the long-term impact of such programs and the role of librarian training in their success.
Distance Learning, Yet So Near: Bridging Engagement and Performance in Brazil
Authors:   FIPECAFI, Brazil, Campos Machado Luciana Maia , Reis Fábio ,   SEMESP, Brazil, Ribeiro Evandro ,   Claretiano, Brazil, Capelato Rodrigo ,   SEMESP, Brazil
Published: February 2025

This study investigates how instructors’ qualifications, student-to-teacher ratio, and students’ perceptions of support influence academic performance in higher education in Brazil. Using 2022 microdata from national assessments and data from the Higher Education Census, we analyzed a sample of student performance through frequency distribution and ordinal logistic regression. The results reveal statistically significant relationships between student performance and various proxies of engagement and interaction. Notably, a lower student-to-teacher ratio is associated with higher scores, highlighting the importance of individualized attention in educational settings. Additionally, the findings indicate that students’ perceptions of administrative support and their relationship with academic coordination positively impact performance. These insights emphasize the need for effective tools and strategies in distance education to foster greater instructor-student interaction, particularly considering the significant growth of online learning since the pandemic.
Optimizing Equality and Inclusion in Teacher Training through the Integration of Social Justice Education in Microteaching Courses: A Study of the Impact of Training Models and Teacher Readiness
Authors:   Universitas PGRI Semarang, Ambarini Ririn , Yuliasri Issy ,   Universitas Negeri Semarang, Sukarno  ,   Universitas Negeri Tidar Magelang, Faridi Abdurrachman ,   Universitas Negeri Semarang
Published: February 2025

This research explores enhancing equity and inclusion in teacher training through integrating social justice education into microteaching. Using a quantitative approach, prospective teachers were divided into experimental and control groups to compare outcomes. Results show significant improvements in equity and inclusiveness among trainees who received social justice education. Teacher training models and readiness also impact this integration. Integrating social justice education in microteaching is deemed practical for fostering inclusive teaching practices, emphasizing the need for its widespread integration in training curricula. Additionally, attention to teacher readiness is crucial for effective implementation. This study contributes significantly to advancing inclusive teaching practices.
The Relationship Between General Intelligence and Reasoning Types of Early Childhood Education Students: Pedagogical Implications
Authors:   University of Silesia in Katowice, Poland, Skibska Joanna , Morska Liliya ,   University of Rzeszów, Poland; Ivan Franko National University of Lviv, Ukraine
Published: February 2025

The goal of the research was to assess the relationship between the intelligence and logical reasoning of early childhood education students who have completed the first year in the primary school. To assess the intelligence, the Raven Standard Matrix Test and a test for the assessment of logical reasoning were used, examining analytical-mathematical, practical, systemic, and spatial reasoning types. A statistically significant correlation was found between intelligence and spatial reasoning, also between analytical and mathematical as well as systemic and practical reasoning types. Students who reflectively analysed a given problem better understood the relationships between individual elements and used the acquired knowledge.