bluuebunny/crossref_metadata_2025 huggingface dataset:
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons
Authors: Perrin Aurélien , Garcia-Uzquiano Rocio , Stojkovic Tanya , Tard Céline , Metay Corinne , Bergougnoux Anne , Van Goethem Charles , Thèze Corinne , Larrieux Marion , Faure-Gautron Héloise , Laporte Jocelyn , Lefebvre Guillaume , Krahn Martin , Juntas-Morales Raul ,   Titin’s Network Collaborators, Koenig Michel , Quijano-Roy Susana , Carlier Robert-Yves , Cossée Mireille
Published: December 2024

Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype–phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic TTN variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages. The 20 patients with recessive inheritance exhibited a heterogeneous range of phenotypes. These included fetal lethality, progressive weakness, cardiac or respiratory complications, hyper-CKemia, or dystrophic muscle biopsies. MRI revealed variable abnormalities in different muscles. All patients presented severe congenital myopathy at birth, characterized by arthrogryposis (either multiplex or axial–distal) or neonatal hypotonia in most cases. This study provides detailed genotype–phenotype correlations in congenital titinopathies caused by mutations in MTT-only exons. The findings highlight the variability in clinical presentation and the severity of phenotypes associated with these specific genetic alterations. RNA-seq analyses provided valuable insights into the molecular consequences of TTN variants, particularly in relation to splicing defects and nonsense-mediated RNA decay. In conclusion, this study reinforces the genotype–phenotype correlations between congenital myopathies and variants in TTN MTT-only exons, improves their molecular diagnosis, and provides a better understanding of their pathophysiology.
Chronic Inflammation Offers Hints About Viable Therapeutic Targets for Preeclampsia and Potentially Related Offspring Sequelae
Authors: Prasad Jaya , Van Steenwinckel Juliette , Gunn Alistair J. , Bennet Laura , Korzeniewski Steven J. , Gressens Pierre , Dean Justin M.
Published: December 2024

The combination of hypertension with systemic inflammation during pregnancy is a hallmark of preeclampsia, but both processes also convey dynamic information about its antecedents and correlates (e.g., fetal growth restriction) and potentially related offspring sequelae. Causal inferences are further complicated by the increasingly frequent overlap of preeclampsia, fetal growth restriction, and multiple indicators of acute and chronic inflammation, with decreased gestational length and its correlates (e.g., social vulnerability). This complexity prompted our group to summarize information from mechanistic studies, integrated with key clinical evidence, to discuss the possibility that sustained or intermittent systemic inflammation-related phenomena offer hints about viable therapeutic targets, not only for the prevention of preeclampsia, but also the neurobehavioral and other developmental deficits that appear to be overrepresented in surviving offspring. Importantly, we feel that carefully designed hypothesis-driven observational studies are necessary if we are to translate the mechanistic evidence into child health benefits, namely because multiple pregnancy disorders might contribute to heightened risks of neuroinflammation, arrested brain development, or dysconnectivity in survivors who exhibit developmental problems later in life.
Electrostimulation: A Promising New Treatment for Psoriasis
Authors: Zuo Zhuo , Wang Yaxing , Fang Yanwei , Wang Zhe , Yang Zhouqi , Jia Bin , Sun Yulong
Published: December 2024

Psoriasis is a chronic inflammatory skin disease caused by abnormal activation and immune system disorder. Despite the availability of several treatments, they only provide temporary relief, and there is a critical need for more effective therapies to manage this condition. Electrostimulation has been widely used as a physical stimulus in treating various diseases, and recent studies have shown its potential in psoriasis treatment. In this review, we explore the direct and indirect effects of electrostimulation in treating psoriasis and their underlying mechanisms (the decreased secretion of inflammatory cytokines, the loss of cell-to-cell connections, and the cAMP signaling pathway). Our findings suggest that electrostimulation therapy may offer a promising approach to treating psoriasis and developing wearable devices for its management.
A Morphological and Behavioral Study of Demyelination and Remyelination in the Cuprizone Model: Insights into APLNR and NG2+ Cell Dynamics
Authors: Landzhov Boycho , Gaydarski Lyubomir , Stanchev Stancho , Kostadinova Ivanka , Iliev Alexandar , Kotov Georgi , Rashev Pavel , Mourdjeva Milena , Pupaki Despina , Stamenov Nikola
Published: December 2024

Multiple sclerosis (MS) is a chronic neurodegenerative disorder involving demyelination. The cuprizone model is commonly used to study MS by inducing oligodendrocyte stress and demyelination. The subventricular zone (SVZ) plays a key role in neurogenesis, while the neuronal/glial antigen 2 (NG2) is a marker for immature glial cells, involved in oligodendrocyte differentiation. The apelin receptor (APLNR) is linked to neurogenesis and behavior modulation. This study explores the role of APLNR in NG2-positive cells during de- and remyelination phases in the experimental cuprizone mouse model. Thirty male C57BL/6 mice were divided into control (not treated), demyelination (5 weeks cuprizone administration), and remyelination (5 weeks cuprizone administration + 5 weeks recovery) groups. Histological examinations, immunohistochemistry, and immunofluorescence on serial coronal sections were conducted to evaluate corpus callosum (CC) morphology and APLNR and NG2 expression in the SVZ, in addition to behavioral assessments. The histological analysis showed a significant reduction in the CC’s thickness and area after five weeks of cuprizone exposure, followed by recovery five weeks post-exposure. During the demyelination phase, APLNR-expressing cells peaked while NG2-positive cells decreased. In the remyelination phase, APLNR-expressing cells declined, and NG2-positive cells increased. Confocal microscopy confirmed the co-localization of NG2 and APLNR markers. Statistically significant differences were observed across experimental groups. Correlation analyses highlighted associations between APLNR/NG2 cell counts and CC changes. Behavioral tests revealed impaired motor coordination and memory during demyelination, with gradual recovery during remyelination. Significant changes in the CC structure and the number of APLNR and NG2-positive cells were observed during de- and remyelination, suggesting that NG2-positive cells expressing APLNR may play a key role in remyelination.
Docosahexaenoic Acid-Infused Core–Shell Fibrous Membranes for Prevention of Epidural Adhesions
Authors: Liu Zhuo-Hao , Huang Yin-Cheng , Kuo Chang-Yi , Govindaraju Darshan Tagadur , Chen Nan-Yu , Yip Ping K. , Chen Jyh-Ping
Published: December 2024

Avoiding epidural adhesion following spinal surgery can reduce clinical discomfort and complications. As the severity of epidural adhesion is positively correlated with the inflammatory response, implanting a fibrous membrane after spinal surgery, which can act as a physical barrier to prevent adhesion formation while simultaneously modulates postoperative inflammation, is a promising approach to meet clinical needs. Toward this end, we fabricated an electrospun core–shell fibrous membrane (CSFM) based on polylactic acid (PLA) and infused the fiber core region with the potent natural anti-inflammatory compound docosahexaenoic acid (DHA). The PLA/DHA CSFM can continuously deliver DHA for up to 36 days in vitro and reduce the penetration and attachment of fibroblasts. The released DHA can downregulate the gene expression of inflammatory markers (IL-6, IL-1β, and TNF-α) in fibroblasts. Following an in vivo study that implanted a CSFM in rats subjected to lumbar laminectomy, the von Frey withdrawal test indicates the PLA/DHA CSFM treatment can successfully alleviate neuropathic pain-like behaviors in the treated rats, showing 3.60 ± 0.49 g threshold weight in comparison with 1.80 ± 0.75 g for the PLA CSFM treatment and 0.57 ± 0.37 g for the untreated control on day 21 post-implantation. The histological analysis also indicates that the PLA/DHA CSFM can significantly reduce proinflammatory cytokine (TNF-α and IL-1β) protein expression at the lesion and provide anti-adhesion effects, indicating its vital role in preventing epidural fibrosis by mitigating the inflammatory response.
Fuzzy Set Qualitative Comparative Analysis of Loyalty Programmes Powered with Blockchain via an UTAUT2 Framework
Authors: Arias-Oliva Mario , Gené-Albesa Jaume , Andrés-Sánchez Jorge de , Llorens-Marín Miguel
Published: December 2024

(1) Background: Loyalty programmes are business strategies aimed at increasing customer fidelity to brands. One of the most promising technologies of the 21st century is blockchain, whose application to the management of loyalty programmes can increase transparency and reliability, enable interoperability, and facilitate centralised management. (2) Methods: This study evaluates the antecedents of the acceptance of blockchain-based loyalty programmes (BBLPs) using a model grounded in the technology acceptance model UTAUT2. The four basic constructs of UTAUT, which we call the UTAUT-baseline, are considered explanatory factors: performance expectancy (PER), effort expectancy (EFF), social influence (SOC), and facilitating conditions (FAC). Additionally, we consider the constructs introduced in UTAUT2: hedonic motivation (HED) and perceived price value (PRI), to which we add innovativeness (INN) and trust (TRU), and we refer to these as UTAUT-extended, along with the moderating variables of UTAUT and UTAUT2: gender, age, and experience. The analytical approach used is complexity theory, which aims to capture the configurations that lead to both acceptance and rejection positions regarding BBLPs. This analysis is performed via fuzzy set qualitative comparative analysis (fsQCA). (3) Results: Eight explanatory configurations of the acceptance of BBLPs have been obtained, in which the presence of all UTAUT-baseline and UTAUT-extended constructs is a condition in at least three prime implicates. The constructs with the greatest presence as core conditions are PER, EFF, and TRU. On the other hand, nine configurations leading to the rejection of BBLPs have been identified. The absence of all UTAUT-baseline and UTAUT-extended variables is a condition in at least three configurations. The core conditions with the greatest presence in the rejection of BBLPs are the lack of FAC, HED, and PRI. (4) Practical implications: The results obtained are of great interest to business owners, as they allow for the characterisation of different profiles of people potentially engaged with BBLPs, as well as the profiles of consumers reluctant to adopt them.
The Impact of Augmented Reality Through User-Platform Interactions Towards Continuance Intention with the Effect of User Generation
Authors: Kabir Zian Shah , Kang Kyeong
Published: December 2024

When users interact with mobile platforms in an Augmented Reality (AR) environment, cognitive and emotional engagements change through different stimuli cues that respond to users’ behavioral intentions. Although AR engages more interactions in mobile platforms, there is a significant gap in assessing UX, considering the physical distance between users and virtual products in a mobile platform. Considering the effect of user generation, the impacts of perceived engagements toward continuance intention through user-platform interactions are unexplored. This study investigated a nuanced understanding of how stimuli cues in augmented reality affect sense of immersion and sense of presence, followed by an Interaction-Engagement-Intention (I-E-I) model. A quantitative method was used to validate the proposed model. Based on an online survey with 886 responses, product fit, network quality, and Artificial Intelligence-driven Recommendation (AIR) influences were assessed for cognitive engagements. This study examined the importance of engaging satisfaction and trust as emotional engagements, influencing users’ continuance intention. The findings showed that sense of presence has a more significant influence on building trust and satisfaction. Also, trust has a more significant impact on the continuance intention to use AR mobile platforms. This study also explored the positive effects of user generation on continuance intention. This could enhance the capabilities of information system designers, researchers, marketing professionals, and solution providers to attain sustainable user retention.
In-Bed Posture Classification Using Pressure Data from a Sensor Sheet Under the Mattress
Authors: Serra André , Ribeiro Fernando , Metrôlho José
Published: December 2024

Monitoring and controlling the condition of bedridden individuals can help reduce health risks, as improper nocturnal habits or body positioning can exacerbate issues such as apnea, insomnia, sleep disorders, spinal problems, and pressure ulcers. Techniques using pressure maps from sensors placed on top of the mattress, along with machine learning (ML) algorithms to classify main postures (prone, supine, left side, right side), have achieved up to 99% accuracy. This study evaluated the feasibility of using a sensor sheet placed under the mattress to minimize patient discomfort. Experiments with ten commonly used ML algorithms achieved average accuracy values ranging from 79.14% to 98.93% using K-Fold cross-validation and from 80.03% to 97.14% using Leave-One-Group-Out (LOGO) for classifying the four main postures. The classification was extended to include 28 posture variations (7 variations for each of the 4 main postures), with the SVM algorithm achieving an accuracy of 65.18% in K-Fold validation, marking a significant improvement over previous studies, particularly regarding the number of postures considered. Comparisons with previous studies that used pressure sensors placed both under and on top of the mattress show that this approach achieves comparable accuracy to other methods, surpassing them with some algorithms and achieving the highest average accuracy. In conclusion, using sensors under the mattress is an effective and less invasive alternative for posture classification.
Eight-Chop Technique in Phacoemulsification Using Iris Hooks for Patients with Cataracts and Small Pupils
Authors: Sato Tsuyoshi
Published: December 2024

Objectives: This study investigated the efficacy and safety of performing phacoemulsification using the eight-chop technique with iris hooks in patients with small pupils. Methods: The iris hooks and control groups each included 65 eyes. Cataract surgeries were performed using the eight-chop technique. The operative time, phaco time, aspiration time, cumulative dissipated energy, and volume of fluid used were measured. Best-corrected visual acuity, corneal endothelial cell density (CECD), and intraocular pressure (IOP) were measured preoperatively and postoperatively. Results: In total, 130 eyes of 107 patients (mean age, 75.9 ± 7.1 years; 58 men, 72 women) with cataracts were evaluated. The mean operative time, phaco time, aspiration time, cumulative dissipated energy, and volume of fluid used were 10.6 min, 20.7 s, 101.1 s, 7.8, and 38.0 mL, respectively, in the iris hooks group and 4.6 min, 16.2 s, 72.1 s, 7.0, and 28.9 mL, respectively, in the control group. The decrease in CECD at 19 weeks postoperatively was 2.1% and 1.2% for the iris hooks and control groups, respectively. In both groups, IOP decreased significantly (all p < 0.01) at 7 and 19 weeks postoperatively. No intraoperative complications were found in either group. Conclusions: The eight-chop technique using iris hooks resulted in a small postoperative reduction in CECD and excellent values for intraoperative outcome measures. In addition, those cataract surgeries were very short, efficient, and safe, without complications. The eight-chop technique using iris hooks could provide an ideal solution for patients with small pupils.
New Frontiers in Myopia Progression in Children
Authors: Queirós António
Published: December 2024

Myopia is a growing public health issue, with projections indicating that half of the global population may be affected by 2050 [...]
Combined Therapy with Azathioprine, Prednisone, and Enalapril in Children with IgAN and IgAVN
Authors: Mizerska-Wasiak Małgorzata , Starczyński Miłosz , Wasiak Wojciech , Małdyk Jadwiga , Płatos Emilia , Pańczyk-Tomaszewska Małgorzata
Published: December 2024

Background: The aim of this study was to evaluate the efficacy of 1-year treatment in children with IgAN and IgAVN using azathioprine, prednisone, and enalapril (AZA+PRED+E) combined with a control kidney biopsy. Methods: This study consists of 68 children diagnosed via kidney biopsy with Oxford classification. The study group included 36 children (15 IgAN, 21 IgAVN) treated with AZA+PRED+E (according to the protocol with a control kidney biopsy); and the control group included 32 children (21 IgAN, 11 IgAVN) who were treated with enalapril alone during one year after kidney biopsy. Results: After 1 year of combined therapy, a significant reduction in both proteinuria (proteinuria = 0 in 35 patients from the study group) and hematuria in the study group was found. It was confirmed that the Δ proteinuria between the start and end of treatment in IgAN and IgAVN patients from the study group was significantly higher than the Δ proteinuria between the start and end of treatment in the control IgAN and IgAVN group treated with enalapril (30.7 ± 43.6 vs. 8.7 ± 8.7; p = 0.015; 68.2 ± 58.3 vs. 19.3 ± 20.3; p = 0.008 respectively). In the Oxford classification a high frequency of improvement in E and T in the study group after treatment was observed. Conclusions: Patients with higher proteinuria and a higher MESTC score require consideration of the strategy of immunosuppressive treatment so that therapy with AZA+PRED+E may be used as a personal treatment plan for children with these diseases.
Association Between Temporomandibular Disorders and Irritable Bowel Syndrome: A Scoping Review
Authors: Saczuk Klara , Roszuk Sylwia , Wirkijowska Malgorzata , Fabisiak Adam , Eyüboğlu Tan Fırat , Özcan Mutlu , Lukomska-Szymanska Monika
Published: December 2024

Temporomandibular disorders (TMDs) encompass various clinical conditions associated with the temporomandibular joint (TMJ) and the masticatory muscles. TMD symptoms include pain in the orofacial region, restricted or altered mandibular movement, and sounds associated with the temporomandibular joint (TMJ). This condition adversely affects quality of life, social functioning, and daily activities, and may also contribute to widespread pain syndromes and comorbidities, including irritable bowel syndrome (IBS). IBS is a common chronic functional disorder of the lower gastrointestinal tract, characterized by recurrent abdominal pain associated with impaired bowel symptoms. Previous studies indicate an association between TMD and IBS. This scoping review examined the correlation between TMD and IBS concerning their pathology, frequency, and severity, and the potential similarities in how the nervous and endocrine systems influence them. PubMed, SCOPUS, Web of Science, and Google Scholar search engines were utilized to identify suitable studies for this article. Following the application of selection criteria, a total of 58 clinical papers met the eligibility requirements for inclusion in the systematic review. Research showed that both conditions significantly enhance the development of one another and have mutual comorbidities. Both ailments were proven to modify central nervous system processing, leading to high comorbidity in patients. Combining dental and gastroenterological treatments, including a simultaneous therapeutic approach, can significantly enhance patients’ quality of life, but further research is needed for a holistic approach.
Critical Considerations in Calling Disease-Causing EDAR Mutations in Nonsyndromic Oligodontia
Authors: Kim Youn Jung , Gu Se-Young , Chae Wonseon , Kim Seon Hee , Kim Jung-Wook
Published: December 2024

Background/Objectives: Oligodontia, the absence of six or more teeth excluding third molars, is a rare genetic condition, unlike hypodontia (missing one or more teeth), which is a relatively common human disease. Methods: To identify the genetic etiology of nonsyndromic oligodontia (NSO) families, we performed mutational analysis and investigated the functional effects of identified EDAR mutations. Whole-exome sequencing was conducted on recruited families with NSO. Bioinformatic analysis identified mutations in oligodontia-causing candidate genes, which were confirmed by Sanger sequencing and segregation within families. The impact of EDAR mutations on the EDA signaling pathway was assessed using luciferase activity analysis. Results: EDAR mutations were identified in three NSO families. A homozygous missense EDAR mutation (NM_022336.4: c.319A>G p.(Met107Val)) was found in the singleton proband of family 1. The proband of family 2 carried compound heterozygous EDAR mutations: a maternal missense mutation (c.319A>G p.(Met107Val)) and a paternal missense variant (c.1270G>A p.(Val424Met)). The proband of family 3 had heterozygous EDAR mutations: a maternal missense mutation (c.389T>A p.(Ile130Asn)) and paternal intronic variants in cis (c.[357-4G>A;440+50C>T]). Luciferase assays confirmed reduced transcriptional activity for all identified missense mutations, while splicing assays revealed altered splicing patterns. Conclusions: In conclusion, recessive EDAR mutations, including novel ones, were identified in NSO families, and their pathological mechanism was explored through transcriptional activity measurements.
Low-Intensity Resistance Exercise in Cardiac Rehabilitation: A Narrative Review of Mechanistic Evidence and Clinical Implications
Authors: Jansen Jemima , Marshall Paul W. , Benatar Jocelyne R. , Cross Rebecca , Lindbom Tia K. , Kingsley Michael
Published: December 2024

Cardiac rehabilitation, a multi-component intervention designed to mitigate the impact of cardiovascular disease, often underutilises low-intensity resistance exercise despite its potential benefits. This narrative review critically examines the mechanistic and clinical evidence supporting the incorporation of low-intensity resistance exercise into cardiac rehabilitation programmes. Research indicates that low-intensity resistance exercise induces hypertrophic adaptations by maximising muscle fibre activation through the size principle, effectively recruiting larger motor units as it approaches maximal effort. This activation promotes adaptation in both type I and II muscle fibres, resulting in comparable increases in myofibrillar protein synthesis and phosphorylation of key signalling proteins when compared to high-intensity resistance exercise. Low-intensity resistance exercise provides equivalent improvements in muscular strength and hypertrophy compared to high-intensity protocols while addressing barriers to participation, such as concerns about safety and logistical challenges. By facilitating engagement through a more accessible exercise modality, low-intensity resistance exercise might improve adherence rates and patient outcomes in cardiac rehabilitation. Additionally, the ability of low-intensity resistance exercise to address sarcopenia and frailty syndrome, significant determinants of cardiovascular disease progression, can enhance the recovery and overall quality of life for patients. This review establishes evidence-based recommendations for the inclusion of low-intensity resistance exercise in cardiac rehabilitation, offering a promising pathway to enhance the effectiveness of these programmes.
Update on the Diagnosis and Treatment of Acute Appendicitis
Authors: Vaos George , Zavras Nikolaos
Published: December 2024

Acute appendicitis (AA) is one of the most common surgical emergencies in adults and children [...]
Role of the Lymphocyte Count-to-C-Reactive Protein Ratio in the Risk Stratification for High EASE Scores After Living Donor Liver Transplantation: A Retrospective Observational Cohort Study
Authors: Park Jaesik , Park Chul Soo , Chae Min Suk , Choi Ho Joong , Hong Sang Hyun
Published: December 2024

Background: Early allograft failure (EAF) significantly contributes to mortality, necessitating re-transplantation following liver transplantation. The EAF simplified estimation (EASE) score has been recently developed to predict EAF. We aimed to assess the predictive capacity of high EASE scores for EAF and postoperative outcomes and to evaluate the association between the lymphocyte count-to-C-reactive protein ratio (LCR) and high EASE scores after living donor liver transplantation (LDLT). Methods: We retrospectively analyzed the data of 808 patients who underwent LDLT. After excluding 16 patients with incomplete laboratory data, the final cohort included 792 patients. Patients with EASE scores ≥−0.74 were categorized into the high EASE group. Multivariate logistic regression was used to examine the association between the LCR and high EASE scores. Results: High EASE scores demonstrated superior predictive accuracy for EAF development relative to that of the early allograft dysfunction (EAD) model (p = 0.018) and were more closely associated with overall mortality (p = 0.033). A preoperative LCR < 12.7 significantly increased the odds (odds ratio, 3.3; confidence interval, 1.997–5.493) of exhibiting high EASE scores post-LDLT, alongside preoperative hematocrit levels, operative duration, intraoperative continuous renal replacement therapy, administered calcium dose, mean heart rate, and donor age. Conclusions: The EASE score could offer enhanced utility for predicting EAF and overall mortality following LDLT relative to that of EAD. Identifying and managing risk factors, including low LCR values, for elevated EASE scores is essential for improving patient prognoses.
Recent Advances in Inflammatory Skin Diseases: Future Research on Viral Reactivations and Vaccine Improvement
Authors: Ciccarese Giulia , Herzum Astrid , Pisano Luigi , Foti Caterina , Drago Francesco
Published: December 2024

In recent decades, the knowledge on the pathogenesis, immune mechanisms, and molecular signaling pathway underlying inflammatory skin diseases has substantially improved, along with the management of such diseases [...]
Identification of Adipsin as a Biomarker of Beta Cell Function in Patients with Type 2 Diabetes
Authors: Park Jae-Hyung , Nguyen Thi Nhi , Shim Hye Min , Yu Gyeong Im , Ha Eun Yeong , Cho Hochan
Published: December 2024

Background/Objectives: Adipsin, an adipokine, is known to play an important role in maintaining the function of pancreatic beta cells in mice. This study aimed to investigate whether adipsin could be a circulating biomarker for evaluating the function of beta cells in patients with type 2 diabetes (T2D). Methods: Plasma adipsin concentrations were measured using immunoassay in three distinct subject groups: normoglycemia, T2D without insulin treatment (T2D-w/o-insulin), and T2D treated with insulin (T2D-with-insulin). Adipsin expressions were evaluated in three distinct mouse groups: normal diet (ND), high-fat diet (HFD), and HFD with streptozotocin (STZ) and nicotinamide (NA). Results: The T2D-with-insulin group exhibited a significant decrease in plasma adipsin concentration (3.91 ± 1.51 μg/mL) compared to the T2D-w/o-insulin group (5.11 ± 1.53 μg/mL; p < 0.001), whereas the T2D-w/o-insulin group showed a significantly increased plasma adipsin concentration compared to the normoglycemia group (4.53 ± 1.15 μg/mL). Plasma adipsin concentration was positively correlated with fasting C-peptide level (p < 0.001), 2-h C-peptide level (p < 0.001), and 2-h C-peptidogenic index (p < 0.001) in the diabetic groups. HFD mice showed a significant increase in pancreatic islet size, plasma insulin and adipsin levels, as well as adipsin expression in white adipose tissue (WAT) compared to ND mice. In contrast, the insulin-deficient T2D model (HFD-STZ-NA) demonstrated a marked reduction in pancreatic islet size, plasma insulin and adipsin concentrations, and adipsin expression in WAT compared to the HFD mice. Conclusions: plasma adipsin may be useful for evaluating pancreatic beta cell function in patients with T2D.
Return to Skiing After Proximal Tibial Fracture: Postoperative Reality and Initial Expectations
Authors: Keppler Lena , Navarre Fanny , Keppler Alexander Martin , Stuby Fabian Maria , Böcker Wolfgang , Saier Tim
Published: December 2024

Background/Objectives: The aim of this study was to investigate patient-reported outcomes of patient expectations and fulfillment of expectations in alpine skiers who had a skiing accident and suffered a complex proximal tibial fracture (AO/OTA—Type B or C) which was treated surgically with open reduction and internal fixation. Methods: In this prospective study, 38 consecutive patients who suffered a complex tibial fracture (AO/OTA—Type B and C) caused by a skiing accident were evaluated. Before surgical treatment with open reduction and internal fixation, patient expectations were evaluated regarding outcomes on knee functionality (e.g., pain) and the return to skiing. At follow-up ≥ 1 year after surgery, an individualized questionnaire was used to evaluate whether their preoperatively formulated expectations had been fulfilled (rated 0–2). In addition, the Knee injury and Osteoarthritis Outcome Score (KOOS), and SF-12 was used. Results: Preoperatively, 76% (n = 29) of patients stated that it was “not so important” to be able to return to their initial skiing level, 50% (n = 19) of patients did not expect to be able to ski again, 34% (n = 13) expected to return to skiing at a significantly lower level, and 16% (n = 6) expected to return to skiing with minor restrictions at most. Postoperatively, the return to skiing rate on initial level was 32% (n = 12); 50% (n = 19) stated that their initial skiing level was not reached again but they were able to ski with moderate restrictions, 10% (n = 4) patients stated that no return to skiing was possible, 50% (n = 19) stated that their expectations were fully met, and n = 7 (18%) stated that their preoperative expectations were not met at all. The mean SF-12 physical component score (PCS) was 52, and the mean mental component score (MCS) was 49.9. The mean Numeric Rating Scale (NRS) was 2.3. The mean KOOS for pain was 86.1 (SD 17.1), for symptoms 62.2 (SD 12.9), for ADL 90.7 (SD 14.4), for sports 74.2 (SD 25.7), and for quality of life (QOL) 66.6 (21.0). Conclusions: After suffering from a complex proximal tibial fracture (AO/OTA—Type B or C) in a skiing accident, preoperative patient expectations to return to skiing is limited. This patient-reported outcome of patient expectations was confirmed by the findings of the patient-reported fulfillment of expectations at least one year after surgery as only 32% of patients returned to their initial skiing level, 50% returned to skiing with limitations, and 50% of patients did not meet their preoperative expectations to return to alpine skiing. The results of this study emphasize the importance of directing patients towards realistic expectations by managing the patients’ understanding of the severity of their injury and realistic outcomes, and providing realistic forecasts of postoperative outcomes.
Asymptomatic Cervical Amputation Caused by Uterine Torsion in a Non-Gravid Woman
Authors: Stefanović Milan , Vukomanović Predrag , Kutlešić Ranko , Trenkić Milan , Dimitrov Vanja , Stefanović Aleksa
Published: December 2024

Background: Uterine torsion represents a rare condition that may occur during pregnancy or in non-gravid women. This condition is difficult to diagnose, since there are no specific signs besides abdominal pain. Thus, most of the cases are not diagnosed correctly before a surgical procedure and may result in complications and poor outcomes. Methods: We present the first case of uterine torsion of 1080 degrees counterclockwise, with asymptomatic cervical amputation. Results: The intraoperative finding was a uterus that was twisted 1080 degrees around its longitudinal axis, a large fibroid > 15 cm, a large ovarian tumor > 15 cm, and a missing cervix. Upon further inspection, the cervix was found, completely separated from the body of the uterus. After the surgery, the patient remained stable, and her postoperative course was uneventful. She was discharged on the eighth postoperative day. No complications were detected 2 months after the surgery. Conclusions: This specific case is extremely unique, being the only one in searched literature with a 1080° torsion and an amputated cervix. Uterine torsion, especially in postmenopausal women, is a highly rare condition and is difficult to diagnose, with potentially serious outcomes. Any doubts should be assessed as quickly as possible and be dealt with appropriately. If possible, MRI and CT scans could be of great help in differential diagnosis.
Telemedicine for Managing Type 1 Diabetes in Children and Adolescents Before and After the COVID-19 Pandemic
Authors: Fogliazza Federica , Sambati Vanessa , Iovane Brunella , Lazzeroni Pietro , Street Maria Elisabeth , Esposito Susanna
Published: December 2024

The COVID-19 pandemic has catalyzed the rapid expansion of telemedicine for managing chronic conditions such as type 1 diabetes (T1D) in children and adolescents. This narrative review aims to explore the role of telemedicine in pediatric T1D management by comparing its use before and after the pandemic. We conducted a comprehensive literature review covering studies published between 2000 and 2024, focusing on telemedicine applications in pediatric T1D care. The review includes clinical trials, systematic reviews, and observational studies examining telemedicine’s impact on glycemic control, patient satisfaction, and healthcare delivery. Results reveal that telemedicine has enhanced access to care, improved glycated hemoglobin (HbA1c) levels, and reduced diabetic ketoacidosis and hypoglycemic events. Patients and caregivers expressed high satisfaction, especially when using continuous glucose monitoring and insulin pump technologies integrated with telemedicine platforms. However, challenges such as digital literacy gaps, variability in healthcare provider training, and logistical issues like reimbursement policies persist. The pandemic highlighted the potential of telemedicine to supplement traditional in-person care, showing promise in enhancing patient outcomes and reducing healthcare burdens. Further research is needed to optimize telemedicine models for T1D, addressing barriers to implementation and exploring its long-term cost-effectiveness. This review underscores telemedicine’s evolving role as a complementary approach in managing pediatric T1D, advocating for the development of standardized care protocols to fully integrate digital health solutions into routine clinical practice.
Inferior-to-Superior Dissection for Recurrent Laryngeal Nerve Identification in Redo Thyroid Surgery: Enhanced Safety and Reduced Injuries
Authors: Gumus Serdar , Yuksel Cemil , Pulat Huseyin , Akyuz Cuneyt , Gul Mehmet Onur
Published: December 2024

Background: Hoarseness due to recurrent laryngeal nerve (RLN) injury is the most feared complication of thyroid surgery. Scars and anatomical changes caused by previous surgeries make finding the RLN during redo thyroid surgeries difficult. We aimed to analyze the results of the inferior-to-superior dissection technique that we applied to find the RLN in redo surgeries. Methods: We analyzed the results of 40 consecutive redo thyroidectomy cases in which the inferior-to-superior nerve dissection technique was used to identify the RLN. We compared this cohort with primary thyroidectomies using a lateral-to-medial approach to determine the reliability of this technique. Results: Most patients were women (80%), and the mean age was 48.1 years. The ASA score was mostly 2. In total, 25% of the patients had a preoperative diagnosis of malignancy. A total of 8 of the patients underwent unilateral surgery and 32 underwent bilateral surgeries. Two patients had previous recurrent laryngeal nerve paralysis (RLNP), but one of them underwent contralateral surgery. Permanent recurrent laryngeal nerve paralysis developed in only 2 of 71 RLNs at risk (2.8%). Complications classified as Clavien-Dindo 3 and above were observed in 12.5% of our patients during the early postoperative period. The transient hypocalcemia rate was 7.5%, and the permanent hypocalcemia rate was 5%. A 2.8% unilateral RLPN rate was detected, but bilateral RLNP was not observed. All of the complications were not observed to be statistically different among those who underwent primary thyroidectomy. Conclusions: The inferior-to-superior nerve dissection approach is a beneficial technique in redo thyroidectomy for preserving RLNP. Surgeons should keep this technique in mind to prevent hoarseness.
Characteristics and Antitumor Activity of Doxorubicin-Loaded Multifunctional Iron Oxide Nanoparticles in MEC1 and RM1 Cell Lines
Authors: Maisuradze Nino , Kekutia Shalva , Markhulia Jano , Tsertsvadze Tamar , Mikelashvili Vladimer , Saneblidze Liana , Chkhaidze Nikoloz , Horváth Zsolt Endre , Almásy László , Mitskevichi Nunu
Published: December 2024

The rapid progress in nanotechnology has introduced multifunctional iron oxide nanoparticles as promising agents in cancer treatment. This research focused on the synthesis and assessment of citric-acid-coated, folic-acid-conjugated nanoparticles loaded with doxorubicin, evaluating their therapeutic potential in tumor models. An advanced automated continuous technology line (CTL) utilizing a controlled co-precipitation method was employed to produce highly dispersive, multifunctional nanofluids with a narrow size distribution. Various techniques, including dynamic light scattering (DLS), electrophoretic light scattering (ELS), X-ray diffraction (XRD), and transmission electron microscopy (TEM), were employed to examine the particle size, zeta potential, structure, and morphology. Magnetic properties were analyzed through vibrating sample magnetometry (VSM), and surface modifications were confirmed via UV-visible (UV-Vis) and Fourier-Transform Infrared (FTIR) spectroscopy. Cytotoxicity and drug delivery efficiency were evaluated in vitro using RM1 (prostate cancer) and MEC1 (chronic lymphocytic leukemia) cell lines. Fluorescence microscopy demonstrated the successful intracellular delivery of doxorubicin, showcasing the nanoparticles’ potential for targeted cancer therapy. However, folic-acid-conjugated nanoparticles exhibited diminished effectiveness over time. This study highlights the importance of nanoparticle optimization for enhancing therapeutic performance. Further research should aim to improve nanoparticle formulations and explore their long-term impacts for the development of safe, targeted cancer treatments.
Structural and Mechanical Properties of Recycled HDPE with Milled GFRP as a Filler
Authors: Spychała Maciej Jan , Latko-Durałek Paulina , Miedzińska Danuta , Sałasińska Kamila , Cetnar Iga , Popławski Arkadiusz , Boczkowska Anna
Published: December 2024

The increasing complexity and production volume of glass-fiber-reinforced polymers (GFRP) present significant recycling challenges. This paper explores a potential use for mechanically recycled GFRP by blending it with high-density polyethylene (HDPE). This composite could be applied in products such as terrace boards, pipes, or fence posts, or as a substitute filler for wood flour and chalk. Recycled GFRP from post-consumer bus bumpers were ground and then combined with recycled HDPE in a twin-screw extruder at concentrations of 10, 20, 30, and 40 wt%. The study examined the mechanical and structural properties of the resulting composites, including the effects of aging and re-extrusion. The modulus of elasticity increased from 0.878 GPa for pure rHDPE to 1.806 GPa for composites with 40 wt% recycled GFRP, while the tensile strength ranged from 36.5 MPa to 28.7 MPa. Additionally, the porosity increased linearly from 2.65% to 7.44% for composites with 10 wt% and 40 wt% recycled GFRP, respectively. Aging and re-extrusion improved the mechanical properties, with the tensile strength of the 40 wt% GFRP composite reaching 34.1 MPa, attributed to a reduction in porosity by nearly half, reaching 3.43%.
Effects of Short-Term Annealing on the Thermal Stability and Microstructural Evolution of Oxygen-Free Copper Processed by High-Pressure Torsion
Authors: Alawadhi Meshal Y. , Aloraier Abdulkareem S. , Alaskari Ayman M. , Alazemi Abdullah A. , Huang Yi
Published: December 2024

This study explores the impact of short-term annealing on the thermal stability and mechanical properties of oxygen-free copper subjected to high-pressure torsion (HPT). Copper samples were deformed through HPT with varying numbers of turns at room temperature and subsequently subjected to short-term annealing at temperatures of 398 K and 423 K. Microstructural analysis revealed that annealing led to grain growth and a reduction in dislocation density, with samples processed with fewer HPT turns exhibiting more significant grain coarsening. The microhardness measurements indicated a reduction in hardness after annealing, particularly at the edges of the discs, suggesting recrystallization. Samples processed with 10 HPT turns demonstrated higher thermal stability and less grain growth compared to 1/2-turn samples. The findings suggest that post-HPT short-term annealing can be used to tailor the balance between strength and ductility in oxygen-free copper, enhancing its suitability for industrial applications.
In Situ Ultrasonic Characterization of Hydrogen Damage Evolution in X80 Pipeline Steel
Authors: Chen Bing , Qiu Feifei , Xia Li , Xu Lintao , Jin Junjun , Gou Guoqing
Published: December 2024

A nondestructive evaluation of the hydrogen damage of materials in a hydrogen environment is important for monitoring the running conditions of various pieces of equipment. In this work, a new thermostatic electrolytic hydrogenation in situ ultrasonic test system (In Situ TEH-UT) was developed. The system operates by combining cross-correlation delay estimation and frequency domain amplitude estimation and hence improves measurement accuracy with respect to ultrasonic propagation time and amplitude, allowing in situ ultrasonic evaluation of the hydrogen-charging process in X80 pipeline steel. The experimental results show that under a 30 mA/cm2 hydrogen-charging current, the hydrogen saturation time of X80 pipeline steel is 800 min. Between 0 and 800 min, the attenuation coefficient and amplitude attenuation both demonstrate a strong linear relationship with the hydrogen-charging time. After 800 min, the attenuation coefficient and amplitude attenuation do not change further, while the attenuation coefficient fluctuates greatly. Through the characterization of the microstructures of the materials analyzed, it was found that hydrogen-induced cracks (HICs) constituted the main reason for the change in the ultrasonic parameters, and the mechanism behind the hydrogen-induced damage layer (HIDL) was determined. This study provides reference significance for clarifying the change mechanism of ultrasonic parameters under hydrogen damage conditions and determining the extent of hydrogen damage using an ultrasonic technique.
Critical Lengths of Kitaev Chains for Majorana Zero Modes with a Microsecond Coherence Time and a Quantized Conductance Signature
Authors: Poljak Mirko
Published: December 2024

The problems of disorder and insufficient system length are generally regarded as central problems in the realization of Majorana zero modes (MZM), which are a promising platform for realizing fault-tolerant topological quantum computing (TQC). In this work, we analyze eigenenergy spectra and transport properties of finite Kitaev chains using quantum transport simulations in a wide design space of hopping amplitude (t), superconductor pairing (Δ), and electrochemical potential. Our goal is to determine critical or minimum acceptable chain lengths to obtain oscillation-free MZMs with suitable microsecond coherence times, and observable zero-bias conductance peaks (ZBCP) quantized almost at ~2e2/h. Due to qualitative equivalence of the Kitaev and Oreg–Lutchyn models, we approximately determine the foreseeable critical length of topological superconducting nanowires (TS NWs) as well. We find that the ZBCP length requirement is looser in comparison to the limit imposed by the coherence time. For a large t/Δ mismatch of ~40 corresponding to the experimental TS NWs, the first condition sets the minimum length to 344 sites (≈5.5 μm), while the second condition requires 605 sites (≈9.7 μm). The calculated lengths are far from the reported experimental hybrid device dimensions, explaining difficulties in observing MZMs in TS NWs fabricated so far. Nonetheless, a decreasing t/Δ mismatch allows for shorter systems, which argues in favor of the proximitized quantum dot path for MZMs in a solid-state system.
Application of NaP1 Zeolite Modified with Silanes in Bitumen Foaming Process
Authors: Malinowski Szymon , Pacholak Roman , Kołodziej Krzysztof , Woszuk Agnieszka
Published: December 2024

In recent years, global climate change has caused worldwide trends in science and industry toward a focus on the development of modern technologies with reduced environmental impact, including reduced CO2 emissions into the atmosphere. The technology for producing asphalt mixtures (AM) at lower temperatures (WMA—warm asphalt mix) using zeolite materials for the bitumen foaming process fits perfectly into these trends. Therefore, towards the development of this technology, the research presented in this paper presents the modification process of zeolite NaP1 from fly ash with silanes of different chemical structures (TEOS, MPTS, TESPT) and their application in the foaming process of bitumen modified with polymers (PMB 45/80-55). The scope of the work includes two main novelty elements: (1) the use of zeolite–silane composites in bitumen foaming and (2) polymer-modified bitumen foaming. Chemical characterisation carried out by EDS-XRF, FTIR, and XPS analysis clearly demonstrated the success of the zeolite matrix modification process, which directly resulted in textural changes. Simultaneously, mineralogical analysis carried out by XRD showed the complete retention of the initial phase composition of zeolite matrix. Further studies have shown that the application of zeolite–oxide composites results in less PMB 45/80-55 stiffening without imposing negative effects on its softening point and dynamic viscosity.