bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characterization of early markers of disease progression in the mouse model of Mucopolysaccharidosis IIIB
Authors: McCullough Katherine B , Titus Amanda , Reardon Kate M , Conyers Sara B , Dougherty Joseph D , Ge Xia , Garbow Joel R , Dickson Patricia , Yuede Carla M , Maloney Susan E 
Published: October 2023

Abstract
Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage diseases have been valuable tools in identifying promising avenues of treatment. Enzyme replacement therapy, gene therapy, and bone marrow transplant have all shown efficacy in the MPS IIIB model systems. A ubiquitous finding across rodent models of lysosomal storage diseases is that the best treatment outcomes resulted from intervention prior to symptom onset. Therefore, the aim of the current study was to identify early markers of disease progression in the MPS IIIB mouse model as well as examine clinically-relevant behavioral domains not yet explored in this model. We observed reduced maternal isolation-induced ultrasonic vocalizations in MPS IIIB mice relative to controls, as well as disruption in a number of the spectrotemporal features. MPS IIIB also exhibited disrupted thermoregulation during the first two postnatal weeks without any differences in body weight. The developmental trajectories of gait were largely normal. In early adulthood, we observed intact visual acuity and sociability yet a more submissive phenotype and increased aggressive behavior relative to controls. MPS IIIB mice showed greater inhibition of startle in response to a pretone with a decrease in overall startle response and reduced cued fear memory. MPS IIIB also weighed significantly more than controls throughout adulthood and showed larger whole brain volumes and normalized regional volumes with intact tissue integrity as measured with magnetic resonance and diffusion tensor imaging, respectively. Together, these results indicate disease markers are present as early as the first two weeks postnatal in this model. Further, this model recapitulates social, sensory and fear-related clinical features. Our study using a mouse model of MPS IIIB provides essential baseline information that will be useful in future evaluations of potential treatments.
Ultrafast Upgrading of Aniline-Based Redox-Active Organics via Electrolyte-Triggered In-Situ Polymerization for Advanced Magnesium-Ion Batteries
Authors: Jin Zhong , Song Xinmei , xue Xiaolan , Ma Xingkai , Yu Qianchuan , Zhu Mengfei , Wang Yaoda , Liang Junchuan , Tie Zuoxiu 
Published: October 2023

Abstract
Organic electrodes are promising as next-generation energy storage materials owing to their diverse structures, low mass, and environmental friendliness. Nevertheless, the dissolution and degradation of organic active species in electrolytes are remaining obstacles to their authentic commercialization. Herein, we report an instantaneous in-situ upgrading strategy to convert aniline-based organic cathode materials, e.g., 1-aminoanthraquinone (1-AAQ) and 1,5-diaminoanthraquinone (1,5-DAAQ), into poly(1-aminoanthraquinone) (PAAQ) and poly(1,5-diaminoanthraquinone) (PDAAQ) in a magnesium-ion battery simply by dropping the electrolyte during battery assembly without extra operations. The marvelous chemistry is essentially a chemical polymerization process of aniline-based compounds featuring the dehydrogenation of -NH2, the aromatization of radical cations, and the rapid free radical reaction triggered by the electrolyte containing magnesium bis(hexamethyldisilazide) (Mg(HMDS)2) as an initiator. Impressively, due to the π-conjugated polymer chain with inhibited dissolution, high conductivity, and improved stability, the as-obtained PDAAQ delivered a high specific capacity (254 mAh g− 1 at 100 mA g− 1), superior rate performance (83 mAh g− 1 at 2000 mA g− 1), and excellent cycling stability for over 8000 cycles accompanied by an average capacity decay of only 0.0026% per cycle. Detailed characterizations deeply investigate the kinetic behavior and confirm the reversible magnesiation/de-magnesiation mechanism of PDDAQ. This study demonstrates an intriguing in-situ chemical-polymerization synthetic approach for preparing aniline-based organic electrode materials that compromise structure optimization and synthetic efforts, offering great promise for high-performance and sustainable multivalent-ion secondary batteries.
Case Report of a Child with Nephronophthisis from South Africa
Authors: Bhimma Rajendra , Jembere Edgar , Hariparshad Sudesh 
Published: October 2023

Abstract

Background:
Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and lung bronchiectasis. However, the involvement of other organ systems has also been documented. Extrarenal manifestations occur in approximately 10–20% of patients. In developed countries, it has been reported as one of the most common causes of monogenic chronic kidney failure during the first three decades of life, with more than 25 genes associated with this condition. The current treatment options for managing NPHP include supportive care, management of complications, and kidney replacement therapy (KRT) when necessary.
Case presentation:
Patient MN is a 10-year-old Caucasian female who presented with recurrent attacks of abdominal pain. MN's elder sister, TN, who was 17 years old, was diagnosed with CKF and noted to have persistently elevated liver enzymes (gamma-glutamyl transferase, alanine, and aspartate transaminases). Following genetic testing, TN was shown to have Nephronophthisis Type 3, and a liver biopsy showed early fibrotic changes. Subsequent genetic testing confirmed MN as having NPHP Type 3. A kidney biopsy showed focal sclerosed glomeruli with patchy areas of tubular atrophy and related tubulointerstitial changes in keeping with NPHP. We present the first confirmatory case of NPHP from Africa based on histopathology and genetic testing in a 10-year-old Caucasian female who presented with recurrent attacks of abdominal pain, whose elder sister also presented with chronic kidney failure and early liver fibrosis, confirmed on biopsy and genetic testing.
Conclusions:
In low-middle-income countries, genetic testing should be undertaken whenever possible to confirm the diagnosis of NPHP, especially in those with a suggestive biopsy or if there is CKF of unknown aetiology with or without extra-renal manifestations.
A systematic review of prenatal diagnosis Vein of Galen aneurysm: prenatal predictive markers and management from the fetal life to childhood
Authors: Meglio Lavinia Di , Sica Giordana , Toscano Paolo , Orlandi Giuliana , Mazzarelli Laura Letizia , Sica Carmine , Meglio Aniello 
Published: October 2023

Abstract
Background
Vein of Galen malformations (VGMs)account for less than 1% of all intracranial vascular malformations. However in the fetal and pediatric population represent the most common vascular malformation of the brain. An optimal knowledge of the prenatal and postnatal clinical features is mandatory for an effective management.
Methods
Articles published between 1st January 2003 and 1st January 2023, reported in PUBMED and EMBASE, were evaluated for a systematic review analyzing prenatal features, postnatal features and management of fetal Galean VGMs.
Results
Twenty-nine papers reporting information on 50 prenatally-diagnosed VGM were included. The most common prenatal features were: fetal hydrocephalus (40%) and cardiomegaly (58%). Post-natal data of 42 VGMs cases are described .The overall mortality was 59,52%. 76,50% of the survivors had a normal development.
Conclusions
A close follow-up and a multidisciplinary approach is mandatory to manage this condition. The aim of our study was to provide a guide to gynecologist, neonatologist, cardiologist, and neuroradiologist.
Critical Analysis of Privacy Risks in Machine Learning and Implications for Use of Health Data: A systematic review and meta-analysis on membership inference attacks
Authors: Walker Emily V. , Bu Jingyu , Pakseresht Mohammadreza , Wickham Maeve , Shack Lorraine , Robson Paula , Hegde Nidhi 
Published: October 2023

Abstract
Purpose.
Machine learning(ML) has revolutionized data processing and analysis, with applications in health showing great promise. However, ML poses privacy risks, as models may reveal information about their training data. Developing frameworks to assess/mitigate privacy risks is essential, particularly for health data custodians responsible for adhering to ethical and legal standards in data use. In September 2022, we conducted a systematic review/meta-analysis to estimate the relative effects of factors hypothesized to contribute to ML privacy risk, focusing on membership inference attacks (MIA).
Methods.
Papers were screened for relevance to MIA, and selected for the meta-analysis if they contained attack performance(AP) metrics for attacks on models trained on numeric data. Random effects regression was used to estimate the adjusted average change in AP by model type, generalization gap and the density of training data in each region of input space (partitioned density). Residual sum of squares was used to determine the importance of variables on AP.
Results.
The systematic review and meta-analysis included 115 and 42 papers, respectively, comprising 1,910 experiments. The average AP ranged from 61.0% (95%CI:60.0%-63.0%; AUC)-74.0% (95%CI:72.0%-76.0%; recall). Higher partitioned density was inversely associated with AP for all model architectures, with the largest effect on decision trees. Higher generalization gap was linked to increased AP, predominantly affecting neural networks. Partitioned density was a better predictor of AP than generalization gap for most architectures.
Conclusions.
This is the first quantitative synthesis of MIA experiments, that highlights the effect of dataset composition on AP, particularly on decision trees, which are commonly used in health.
Evaluation of the horizontal approach to the medial malleolar facet in sagittal talar fractures through dorsiflexion and plantarflexion positions
Authors: Li Xian. , Wang Xiao-ke. , Han Li-ren. , Li Hao. , Tian Hui-chao. , Yan Jun. , Liu Hai-juan. 
Published: October 2023

Abstract
Background Talar fractures often require osteotomy during surgery to achieve reduction and screw fixation of the fractured fragments due to limited visualization and operating space of the talar articular surface. The objective of this study was to evaluate the horizontal approach to the medial malleolus facet by maximizing exposure through dorsiflexion and plantarflexion positions.
Methods In the positions of foot dorsiflexion, plantarflexion, and functional, we respectively obtained the anterior and posterior edge lines of the projection of the medial malleolus on the medial malleolar facet. Import the talar model from Mimics into Geomagic software for image refinement. Utilize Solidworks software to segment the medial surface of the talus and extend the edge lines from the three positions to project them onto the "semicircular" base for 2D projection.
The exposed area in different positions, the percentage of total area it represents, and the anatomic location of the insertion point at the groove between the anteroposternal protrusions of the medial malleolus were calculated.
Results The mean total area of the "semicircular" region on the medial malleolus surface of the talus was 542.10 ± 80.05 mm2; In functional position, the exposed mean area of the medial malleolar facet around the medial malleolus both anteriorly and posteriorly was 141.22 ± 24.34 mm2, 167.58 ± 22.36mm2. In dorsiflexion position, the mean area of the posterior aspect of the medial malleolar facet was 366.28 ± 48.12 mm2 ; In plantarflexion position, the mean of the anterior aspect of the medial malleolar facet was 222.70 ± 35.32 mm2; The mean area of unexposed area in both dorsiflexion and plantarflexion was 23.32 ± 5.94 mm2; The mean percentage of the increased exposure area in dorsiflexion (36.71 ± 3.25 %) and plantarflexion positions were 36.71 ± 3.25 % and 15.13 ± 2.83 %. The mean distance from the insertion point to the top of the talar dome was 10.69 ± 1.24 mm, to the medial malleolus facet border of the talar trochlea was 5.61 ± 0.96 mm, and to the tuberosity of medial malleolus facet of deltoid ligament posterior tibial talar was 4.53 ± 0.64 mm.
Conclusions Within the 3D model, we measured the exposed area of the medial malleolus facet in different positions and the anatomic location of the insertion point at the medial malleolus groove. The data regarding the exposed visualization area and virtual screws need to be combined with clinical experience for safer reduction and fixation of fracture fragments. Further validation of its intraoperative feasibility will require additional clinical research.
Parasites of stray cats in Iran: A parasitological and histopathological study
Authors: Ahmadi Amin , Oryan Ahmad , Alidadi Soodeh 
Published: October 2023

Abstract
Many zoonotic parasitic diseases, including Toxocara cati may be spread by stray cat populations. This study aimed to determine the prevalence of parasites by performing parasitological and histopathological examinations on stray cats in Shiraz, Iran. A total of 106 stray cats from different geographical areas of Shiraz, southern Iran, were analyzed for parasites. The overall prevalence was found to be 83.02% (88 of 106), and eight parasite species were found, including three species of cestodes, including Joyeuxiella spp. (52.83%), Taenia taeniaeformis (21.70%), Dipylidium caninum (1.89%)], three nematode species inclusive of Physaloptera spp. (23.59%), Toxocara cati (15.09%), Rictularia spp. (1.89%)], one protozoan species, Isospora spp. (6.60%), and one arthropod species, Ctenocephalides felis (5.66%). The prevalence did not significantly differ between males and females. It did appear, nevertheless, that the age of cats may be regarded as a risk factor for these parasitic infections. The results of the present study showed that parasitic infections and, more importantly, T. cati are relatively prevalent in stray cats, and the people living in this area are seriously at risk of this zoonotic disease. The cats of this region need to be monitored, and specific preventive measures should be developed by public health officials.
Quality of Life of Millenial with Polycystic Ovarian Syndrome
Authors: Meñosa Froiland , Albaño Joanna 
Published: October 2023

Abstract
Polycystic Ovarian Syndrome (PCOS) is a hormonal disorder associated with an abnormal overproduction of androgen that has been the topmost endocrine disorder across the globe. The study aimed to introduce knowledge, findings and evaluate on how PCOS affected the quality of life of millennial women residing in Dapitan City province of Zamboanga del Norte. The objectives of the study were to know the demographic profile of the certified respondents in terms of marital status and number of children, to assess the quality of life of millennial women with Polycystic Ovarian Syndrome, and lastly to test if there is a significant difference in the quality of life of millennial with PCOS when data is analyzed in terms of marital status and number of children. Quantitative method with cross-sectional descriptive approach was used in the study to quantify the data gathered and analyzed the result from the qualified respondents. The research study was conducted in Dapitan City province of Zamboanga del Norte, Northwestern coast of the island Mindanao with a total of thirty-two respondents for two weeks of data collection following the inclusion of criterion in selecting the respondents. The researchers have used the Qouta Sampling to primarily focus on one particular group of people that represents as the population of the study. The study adopted a questionnaire from the study Polycystic Ovary Syndrome Quality of Life Scale: Development and Preliminary Validation which were validated by William et al., (2018) with the overall crohnbach alpha result of α=.95. Frequency count and percentage, chi-square probability, and Kruskal Wallis test were used to treat the data statistically. The respondents with partner experienced accounted to 75 percent with about 66 percent living with no children. In addition, millennial women with polycystic ovarian syndrome were living desperately. Furthermore, there was no significant difference in the quality of life of millennial women with PCOS when analyzed by marital status and number of children. The researchers have concluded that majority of millennial women with Polycystic ovarian syndrome were able to have and experienced partners but were not able to conceive child. The quality of life of millennial women with polycystic ovarian syndrome were affected negatively that resulted to experienced desperate living. Marital status and number of children do not matter in the quality of life experienced by millennial women with polycystic ovarian syndrome. Women diagnosed of PCOS should have regular medical check-up for blood test, androgen level, and ultrasound as required for fertility test. In addition, women with PCOS should seek medical practitioner for advices and therapeutic counselling. Thus, women with PCOS regardless of marital status and number of children should attend complete medical check-up and follow medication prescribed by the attending physician.
Designing for curiosity enhances absorption and continued intention to use MOOCs
Authors: Faisal C. M. Nadeem , Younas Aisha , De Andrés Javier , Fernandez-Lanvin Daniel , Gonzalez-Rodriguez Martin 
Published: October 2023

Abstract

Rapid technological growth and frequent modification in user usage behavior consequently emerge new challenges for online learning service providers to continuously determine individuals’ experiences to maintain their level of engagement. Accessible interfaces and interactive services play a key role in increasing user engagement with technologies. The intent is to seek deeper insights to determine potential interface design features that heighten curiosity and absorption, leading to continued intention to use. An application MOOC prototype was created to collect data from participants and used to validate the proposed research model and hypotheses. The partial least squares method was used to analyze the collected data. It was found that the design characteristics increased the level of curiosity and immersed participants in the learning environment, causing them to lose their sense of time and develop a sense of temporal dissociation. This study will draw the attention of e-learning service providers to learners' perceptions of learning resources.
CYP3A5 and POR gene polymorphisms as predictors of infection and graft rejection in post-liver transplant patients treated with tacrolimus - a cohort study
Authors: Ono Suzane , Naldi Graziella , Minari Ariane , Pereira Thales , Fossaluza Victor , Eugenio Nicholas , Ferreira Marcelo , Gregório Guilherme , Nacif Lucas , Albuquerque Luiz D , Filho Ricardo di Lazzaro , Cançado Eduardo , Ono Suzane 
Published: October 2023

Abstract

Liver transplantation is the only curative option for patients with advanced stages of liver disease, with tacrolimus used as the immunosuppressive drug of choice. However, due to its narrow therapeutic index and high inter- and intra-individual variability, serum monitoring should be frequent. An individual's genetic variability can interfere with drug response, potentially leading an individual to overexposure or underexposure of a drug. This study aims to investigate the association of polymorphisms with infection, acute rejection, and renal failure. This is an observational, prospective, cohort, single-center study in liver transplant patients. Were collected 97 recipients and 97 donors. The logistic regression model found an influence of patients expressing CYP3A5*3 (rs776746) and expressing POR*28 (rs1057868) on the development of acute rejection after liver transplantation (p = 0.028). It also found an association between carriers of the variant allele of the POR*28 gene and infection (p = 0.006 isolated analysis and p = 0.003 combined analysis).
The compressive creep of rockfill
Authors: Gang DENG , Yu SU , ZHANG Yinqi , ZHANG Yanyi , HUANG Wenchao 
Published: October 2023

Abstract
Multistage constant stress rates loading-creep tests were carried out on air-dried slate rockfill. The influences of the loading history on the creep deformation of rockfill were investigated, including the prior loading stress rate, the stress increment size of prior loading, and the history of early loading and early creep, in which 'prior loading' was defined as the loading just before the creep in the current loading-creep step, while 'early loading' or 'early creep' was that before prior loading. Regardless of the size of the prior loading stress increment, as long as there was a loading-creep process before this step of loading-creep, the time development process of the subsequent creep strain and strain rate was related to the creep stress and the prior stress rate before creep. The creep process had no obvious relationship with the early stress rate in the last step, as well as the earlier loading history before the last creep. The subsequent creep strain was positively correlated with the creep stress and prior stress rate. When the prior stress rate before creep was high, the subsequent creep rate and time were linear in the double logarithmic coordinate. The creep rate and time accorded with a power-law relationship which appeared to be the baseline for creep development. Whatever the prior loading rate, the creep rate time progression in the middle and later stages of the subsequent creep conformed to this baseline. Besides, when the prior stress rate was lower than a certain value, the initial strain rate of subsequent creep was significantly lower than the baseline, which decreases less until several minutes after the start of creep. The development law of creep rate at the initial stage could be generalized as a straight horizontal line in double logarithmic coordinates, which is kept almost unchanged for a certain time. The strain rate would not resume the power-law relationship with time until it approached the base creep rate. The inheritance and hysteresis of different prior strain rates to the initial stage of subsequent creep due to prior stress rate with the discrepancy, result in differences in the creep magnitude and time development process of creep rate. Moreover, the prior low strain rate both depressed the initial rate of subsequent creep and pushed back the initiation time of subsequent creep according to the power law.