bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome
Authors: Ozarkar Siddhi , Patel Ridthi , Vulli Tasmai , Smith Audrey , Styner Martin , Hazlett Heather , Shen Mark , Burette Alain , Philpot Benjamin 
Published: August 2024

Abstract

Background
Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still not well characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS. Furthermore, we probed the underlying neuropathology by examining the progression of myelination in an AS mouse model.
Methods
We conducted magnetic resonance imaging (MRI) on children with AS (n=32) and neurotypical controls (n=99) aged 0.5-12 years. In parallel, we examined myelination in postnatal Ube3a maternal-null mice (Ube3am-/p+; AS model), Ube3a paternal-null mice (Ube3am+/p-), and wildtype controls (Ube3am+/p+) using immunohistochemistry, Western blotting, and electron microscopy.
Results
Our data revealed that AS individuals exhibit significant reductions in brain volume by ~1 year of age, with WM reduced by 26% and gray matter by 21% by 6-12 years of age—approximately twice the reductions observed in the adult AS mouse model. In our AS mouse model, we saw a global delay in the onset of myelination, which normalized within days (likely corresponding to months or years in human development). This myelination delay is caused by the loss of UBE3A in neurons rather than UBE3A haploinsufficiency in oligodendrocytes. Interestingly, ultrastructural analyses did not reveal any abnormalities in myelinated or unmyelinated axons.
Limitations: It is difficult to extrapolate the timing and duration of the myelination delay observed in AS model mice to individuals with AS.
Conclusions
This study reveals WM deficits as a hallmark in children with AS, demonstrating for the first time that these deficits are already apparent at 1 year of age. Parallel studies in a mouse model of AS show that these deficits may be associated with delayed onset of myelination due to the loss of neuronal (but not glial) UBE3A. These findings emphasize the potential of WM as both a therapeutic target for interventions and a valuable biomarker for tracking the progression of AS and the effectiveness of potential treatments.
Male gamete copies to characterize genome inheritance and generate progenies
Authors: Palermo Gianpiero , Xie Philip , Takeuchi Takumi , Cheung Stephanie , Rosenwaks Zev 
Published: August 2024

Abstract

Male factor infertility accounts for approximately 30% of infertile couples. When spermatozoa are extremely scarce, replicating the male gamete to fertilize a large cohort of oocytes would be ideal. Additionally, patients with inherited disorders currently rely on pre-implantation genetic diagnosis (PGD) to select healthy embryos, which raises ethical concerns due to the generation of multiple embryos to select one healthy conceptus. Therefore, it would be beneficial to decode the genetics of a single sperm cell before conceptus generation. In this study, we demonstrated the feasibility of replicating the sperm genome via androgenesis and selecting the desired gamete before fertilization to preserve a specific paternal genotype, confirmed by phenotypic observation and genetic testing, in a murine model. We achieved satisfactory pre-implantation developmental rates with replicated male gametes and were able to generate healthy offspring. Specifically, using 8-cell stage androgenetic embryos, a single spermatozoon can yield up to three conceptuses carrying the identical paternal haplotype.
Effects of steroid-resistant nephrotic syndrome serum on AA pathway in podocytes cultured in 3D in vitro glomerular model
Authors: Bianchi Gaia , Bellucci Linda , Morello William , Turolo Stefano , Cricrì Giulia , Caicci Federico , Tamburello Chiara , Villa Stefania , Prati Daniele , Montini Giovanni , Collino Federica 
Published: August 2024

Abstract

Background and hypothesis.
Steroid-resistant nephrotic syndrome (SRNS) is the most severe form of nephrotic syndrome, with genetic or unidentified immunological origins and rapidly progressing to the need for kidney replacement therapy. Lipotoxicity can affect podocytes inducing kidney damage. In this study, we evaluate the effects of SRNS serum on podocyte functionality and lipid metabolism.
Methods.
A three-dimensional (3D) dynamic in vitro glomerulus was incubated with serum from multi-drug resistant (MDR) and genetic SRNS or healthy controls. The glomerular filtration barrier (GFB) integrity, podocyte viability, and fatty acids (FAs) composition were evaluated by serum albumin permeability estimation, cytofluorimetric analysis and gas chromatography, respectively. Expression of slit diaphragm molecules and FA-related enzymes was analyzed by immunofluorescence and PCR.
Results.
Serum from SRNS patients induced cell granularity, increased GFB permeability, and disrupted slit diaphragm protein structure. The podocyte damage was most severe when MDR serum was administered compared to the serum of genetic-SRNS. This was associated with a significant upregulation of the transcripts coding for nephrin, synaptopodin, and CD2AP. An alteration of fatty acid profile in MDR-treated podocytes was observed, with increased monounsaturated FAs following the decrease of saturated FAs. The exposure of cultured podocytes to MDR- and genetic-SRNS serum induced disruption of arachidonic acid (AA) synthesis pathway, with different intermediate players involved.
Conclusion.
This study highlights the detrimental effects of serum from SRNS patients on podocyte function and the association of AA synthesis pathway with the podocyte damage.
The survival outcome in proximal and distal gastric neuroendocrine carcinoma - A SEER-based competing risk nomogram
Authors: Kong Lingjie , Yan Chaobiao , Nie Shijiao , Jin Haijuan , Li XiaoWen 
Published: August 2024

Abstract

Objective
The occurrence of gastric neuroendocrine carcinoma (GNEC) is on the rise, and its prognosis is extremely poor. We compared survival outcomes between distal and proximal GNEC and developed a nomogram incorporating tumor site to enhance personalized management for patients of GNEC.
Methods
1807 patients were divided them into DGNEC and PGNEC groups. We performed analyses by using propensity score matching (PSM) and Fine-Gray competing risk methods. A predictive nomogram about prognosis of GNEC was constructed and validated.
Results
The cumulative incidence of cancer-specific death (CSD) in DGNEC group was lower than that in PGNEC group. Subgroup analysis showed lower CSD of DGNEC in male, female, tumor size (≤ 2 cm, 2 < tumor size ≤ 5 cm, > 5 cm and unkown), grade stage I-II, and AJCC stage I-Ⅲ, chemotherapy yes or none, surgery yes or none groups (p < 0.05). Multivariate analysis revealed a significant association between PGNEC and CSD (HR, 1.4; 95% CI, 1.13–1.73; P = 0.02). The independent predictors of CSD in patients with GNEC were primary site, gender, age, tumor size, AJCC stage, T stage, N stage, grade stage, and surgery. A predictive model based on multivariate analysis was constructed to estimate the probability of CSD at 1-, 3-, and 5- year. The calibration curves demonstrated excellent consistency between the predicted and observed probabilities of the CSD.
Conclusion
Patients with DGNEC have a better prognosis than those with PGNEC. The model exhibits strong predictive capability for these patients.
CXCL10-related T lymphocyte infiltration and breast cancer metastasis are regulated by CXCL12
Authors: Liu Xianfu , Chen Yansong , Tang Jingwei , Zhang Hao , Zhang Xiaojing 
Published: August 2024

Abstract

Background
Breast cancer (BC) is a malignant tumor with the highest incidence rate in women. This work explored the function of CXCL10 and CXCL12 in tumor metastasis.
Methods
CXCL12 and CXCL10 protein expression levels were assessed by IHC in breast cancer tissues. String revealed that CXCL12 interacts with CXCL10 protein molecules. The GEPIA2 database revealed that CXCL12 was negatively correlated with CXCL10. CXCL12. The effects of CXCL12 on invasion and migration were detected by scratch and transwell experiments in breast cancer cells. CD4 + T and CD8 + T cells in the inflammatory microenvironment of breast cancer patients were evaluated with the NGDC database and verified by IHC.
Results
CXCL12 knockdown inhibited migration and invasion and enhanced the expression and secretion of CXCL10 in BC. CXCL10 is responsible for the recruitment of CD4 + and CD8 + T lymphocytes into tumors and enhances antitumor effects. The single-cell data showed that the patients in the CXCL10 + CD4+/CD8 + T-cell group and the CXCL12-CD4+/CD8 + T-cell group had better prognoses.
Conclusions
CXCL12 promoted BC migration and invasion. On the other hand, CXCL12 inhibited the expression and secretion of CXCL10, further inhibiting T lymphocyte infiltration and promoting breast cancer metastasis in the TME.
How Environmental Perception influence Depression and Anxiety: The Mediating Role of Social Interaction
Authors: Yang Guang , Zuo Ying , Cheng Haoxuan , Zhang Lufa 
Published: August 2024

Abstract

Background: With the economic and social transformations, depression and anxiety disorders are presenting an increasingly common trend globally, becoming a widely addressed issue in mental health. Research has shown that livable natural environments and high-quality social interactions can influence residents’ psychological health and happiness. However, Studies on Whether residents’ perception of the environment affects depression and anxiety, and the underlying mechanisms are remained limited.
Methods: This study relies on Health Life Satisfaction Survey of Yangtze River Phase II Delta (HLSSYRD II), collected during waves spanning 2021 and 2023. The primary objective is to examine the relationship between environmental perception, social interaction, and degree of depression and anxiety of individuals. Linear mixed-effects models were used to analyze the data.
Results: A total of 1752 observations were included in this paper. The “Depression and Anxiety (HAD)” variable has a mean score of 26.01 (SE = 6.99), with “Depression” scoring at 13.15 (SE = 3.78) and “Anxiety” scoring at 12.85 (SE = 3.75) among individuals in YRDC. There is a strong negative correlation between depression, anxiety and environmental perception (β = -0.187, SE = 0.03, p < 0.001; β = -0.152, SE = 0.03, p < 0.001). Moreover, there was significant mediating effects of social interaction in the association between environmental perception and HAD. In addition, gender, chronic disease，marital status, occupation, education level, monthly personal income were associated with depression and anxiety.
Conclusions: Individuals with worse environmental perception have more possibility to develop depressive and anxiety symptoms than those with better environmental perception YRDC, and such a relationship can be partly mediated by social interaction.
Epidemiology and Economic Impact of Bovine Trypanosomosis in Jawi District, Northwest Ethiopia
Authors: Adane Mamo , Teshome Yechale , Jemberu Wudu T. , Kebede Nigatu 
Published: August 2024

Abstract

Background
Bovine trypanosomosis is a debilitating cattle disease considered as a bottleneck to sufficient food production and economic growth in sub-Saharan countries including Ethiopia. A cross-sectional study was carried out from November 2021 to April 2022 in the Jawi district of Northwest Ethiopia to estimate the prevalence of bovine trypanosomosis, determine the apparent density (AP) of tsetse flies, identify potential risk factors, and assess the economic impact of the disease. For the parasitological study, blood samples were collected from 384 randomly selected zebu breed cattle and examined using the buffy coat technique and Giemsa-stained thin smears. For the entomological survey, a total of 60 monoconical traps were deployed in two randomly selected kebeles. For the economic impact assessment, economic data were collected through interviews using comprehensive and pretested structured questionnaires administered to 100 households.
Results
The overall prevalence was 9.11% (95% CI = 6.43–12.45). The trypanosome species identified were Trypanosoma congolense (57.14%, n = 20), T. vivax (37.14%, n = 13) and mixed infection with T. congolense and T. vivax (5.72%, n = 2). There was a statistically significant association (p < 0.05) between sex, body condition score (BCS) and packed cell volume (PCV) of cattle and trypanosome infection, but no statistically significant differences were observed for age, coat color, altitude or kebele (p > 0.05). The mean PCV of the infected group (22.46 ± 2.56) was significantly (P < 0.001) lower than that of the non-infected group (27.77 ± 2.22). A total of 154 flies were captured, 110 tsetse and 44 other biting flies (Stomoxys, n = 26 and Tabanus, n = 18). The species of tsetse identified was Glossina tachinoides, and the apparent density was 0.61 flies/trap/day (FTD). The overall economic losses per household and per individual cattle were US$ 1,204.34 and US$ 79.55, respectively.
Conclusion
The prevalence and estimated mean total economic losses due to bovine trypanosomosis indicated that this disease is highly economically important to farmers; therefore, sustainable and integrated control methods must be be designed and implemented in this area to minimize its impact.
Current Situation Analysis of Construction of Mobile Medical Service Platform for Domestic General Hospitals
Authors: Wang Jialin , Zhang Shenyu , Yang Shuangyu , Weng Yuanyuan , He Dong , Xiong Jun 
Published: August 2024

Abstract

Objective
To understand the construction of mobile App medical service platforms in general hospitals in China.
Methods
50 hospitals were randomly selected from seven regions of China. The user interface score and the number of service functions were statistically described and statistical tables, and analyzing the differences in user interface scores by region using analysis of variance.
Results
The average score of user interface evaluation of hospitals in all regions was above 70 points, and the number of service functions was between 12–14 items, 8–11 items and 5–7 items accounted for 38%, 52% and 10% of the overall hospitals, respectively, and the ANOVA results showed that the differences in the user interface scores of hospitals in different regions were statistically significant in terms of image design (p = 0.021), testing and iterating (p = 0.012), and functional categorization (p = 0.047).
Conclusions
Hospitals should upgrade and develop mobile medical service platforms in terms of color system construction, broadening feedback channels, and safeguarding user privacy and security.
How are C, N, and P Distributed in Soils of the Caatinga Dryforest?
Authors: Souza Ramon Santos , Souza Bartolomeu Israel , Oliveira Tatiana Custódio , Pereira Luís Flávio , Silva Glauciene Justino Ferreira , Filho Elpidio Inacio Fernandes , Xavier Rafael Albuquerque , Silva Fagner Lucas Pontes , Madeiro Ellen Luana Brasilino Lemos , Ibraim Lucas Souza , Souza Jose Joao Lelis Leal 
Published: August 2024

Abstract

Soil nutrients play a fundamental role in terrestrial ecosystems and are essential for understanding the effects of global changes. Carbon, nitrogen, and phosphorus are required in specific quantities by plants and are related to soil fertility. In the Caatinga, one of the largest and most diverse tropical dry forests in the world, there are still some studies that seek to understand the determinants of the spatial variability of organic carbon (OC), N, and P in the soil and, even fewer, those that explored the use of ML modeling. In this work, we predict the spatial variability of the properties of these elements at depths between 0 and 20 cm in this biome and evaluate the predictive capacity of environmental and geographic variables. We used the Random Forest model in Google Earth Engine to forecast maps with a spatial resolution of 30 m. The highest result was obtained for predicting P (LCCC of 0.32 and R2 of 0.25), followed by OC (LCCC of 0.25 and R2 of 0.17), N (LCCC of 0.21 and R2 of 0.12) and C/N ratio (LCCC of 0.14 and R2 of 0.10). The final maps showed good spatial consistency, with OC, N, C/N distributed according to climatic covariates, topographic data, and geographic regions (longitude and latitude). The P content varies mainly depending on the parent material in the soil. We highlight the relevance of ecotones, which recorded the highest average levels of C and N and C/N, demonstrating the importance of these areas for the maintenance and dynamics of these ecosystems.
Platelet-rich Plasma Therapy Reduces Dermatological Neurological Symptoms in Patients with Severe Rib Fractures
Authors: Lin Yi-Han , Hsu Han-Shui 
Published: August 2024

Abstract

Purpose: This study aimed to compare the efficacy of platelet-rich plasma (PRP) therapy and rib reduction surgery in managing severe rib fractures, focusing on pain relief, medication usage, pulmonary function, and long-term thoracic numbness.
Method: We assessed 137 patients with severe rib fractures and included 104 patients who met the criteria (36 and 68 in the PRP therapy and surgery groups, respectively). Pain scores using the Numeric Rating Scale, medication usage, pulmonary function tests at week 4, and rates of thoracic numbness at 1 and 6 months post-treatment were recorded and compared between the two groups.
Result: Compared with the surgery group, the PRP therapy group exhibited significantly lower pain scores during the follow-up period (weeks 1, 2, 4, and 8), reduced medication usage (weeks 2 and 4), and better pulmonary function (week 4). Moreover, PRP therapy significantly lowered the rates of thoracic numbness at 1 and 6 months post-treatment compared with surgery.
Conclusion: PRP therapy is a promising alternative to rib reduction surgery for severe rib fractures, providing superior pain management, reducing medication dependency, improving pulmonary function recovery, and significantly lowering the risk of long-term thoracic numbness. These findings indicate that PRP therapy can be considered a preferred treatment option for severe rib fractures, offering a noninvasive approach with favorable outcomes.
Cholestasis after Kasai operation predicts portal hypertension in native liver survivors of biliary atresia – A multicentre study
Authors: Chung Patrick Ho Yu , Harumatsu Toshio , Nakagawa Yoichi , Tsuboi Koichi , Chan Edwin Kin Wai , Leung Michael , Yeung Fanny , Muto Mitsuru , Kawano Takafumi , Amano Hizuru , Shirota Chiyoe , Nakamura Hiroki , Koga Hiroyuki , Miyano Go , Yamataka Atsuyuki , Ieiri Satoshi , Uchida Hiroo , Wong Kenneth Kak Yuen 
Published: August 2024

Abstract

Purpose
This study evaluated portal hypertension (PHT) and its predictors among native liver survivors (NLS) of biliary atresia (BA) after Kasai portoenterostomy (KPE).
Methods
This was a multicenter study using prospectively collected data. The subjects were patients who remained transplant-free for 5 years after KPE. Their status of PHT was evaluated and variables that predicted PHT were determined by regression analysis and receiver operating characteristic (ROC) curve.
Results
Six centers from East Asia participated in this study and 320 subjects with KPE between 1980 to 2018 were analyzed. The mean follow-up period was 10.6 +/- 6.2 years. At the 5th year after KPE, PHT was found in 37.8% of the subjects (n=121). Patients with KPE done before day 41 of life had the lowest percentage of PHT compared to operation at older age. At 12 months after KPE, PHT +ve subjects had a higher bilirubin level (27.1 +/- 11.7 vs 12.3+/-7.9 µmol/L, p=0.000) and persistent jaundice conferred a higher risk for PHT (OR=12.9 [9.2 – 15.4], p=0.000). ROC analysis demonstrated that a bilirubin level above 38 µmol/L at 12 months after KPE predicted PHT development (sensitivity: 78%, specificity: 60%, AUROC: 0.75).
Conclusions
In BA, early KPE protects against the development of PHT among NLSs. Patients with persistent cholestasis at one year after KPE are at a higher risk of this complication. They should receive a more vigilant follow up.
Level of evidence: Level III
The relationship between exposure to long-term training, neuromuscular function and muscular structure in adolescents with cerebral palsy and typically-developed peers: a cross-sectional follow-up analysis
Authors: Minghetti Alice , Roth Ralf , Büttiker Sereina , Lichtenstein Eric , Ritsche Paul , Keller Martin 
Published: August 2024

Abstract

Background
This cross-sectional study examined whether exposure to long-term resistance and endurance training can counteract muscular weakness on a functional, neurological and structural level in adolescents with cerebral palsy (CP) compared with typically-developed peers (TD) in dependence of training status.
Methods
Five trained (4 males; mean age: 19.8) and four untrained adolescents with CP (3 males; 20.2) were compared with nine age- and sex-matched TD trained (7 males; 19.8) and nine untrained TD peers (7 males; 20.3). Isometric and isokinetic measurements assessed strength in knee flexion and extension, voluntary activation (VA) was assessed by the twitch interpolation technique and ultrasound imaging of the m. quadriceps was performed to assess anatomical cross sectional area (ACSA). Both legs were assessed in all participants.
Results
CP trained showed lower absolute isometric strength (dominant: -18% [-48; 11]; non-dominant: -35% [-58; -11]) than TD untrained while CP untrained showed between 29% and 33% lower strength than TD untrained. VA in CP trained (dominant: -13% [-23; -3]; non-dominant: -10% [-30; 11]) and CP untrained (dominant: -14% [-23; -4]; non-dominant: -8% [-29; 13]) showed similar deficits compared with TD untrained. CP trained showed higher ACSA than TD untrained in the dominant leg of the m. vastus lateralis (+ 16% [-7; 38]), while the non-dominant side showed lower values (-18% [-45; 9]).
Conclusion
Exposure to long-term resistance and endurance training is associated with a smaller gap in maximum strength and muscle volume in the dominant leg of adolescents with CP while neural drive does not seem to be affected by training exposure.
Trial registration
ClinicalTrials.gov Identifier NCT05859360 / Registration date May 4, 2023