bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature
Authors: Gusmano C. , Cannarella R. , Crafa A. , Barbagallo F. , La Vignera S. , Condorelli R. A. , Calogero A. E. 
Published: July 2022

Abstract
Background
P450 oxidoreductase (POR) deficiency (PORD) is characterized by congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD) in both sexes. PORD can also associate with skeletal defects. However, the prevalence of these phenotypes is unknown.

Aim
To evaluate the prevalence of CAH, DSD, and infertility of patients with POR gene pathogenic variants by a systematic review of the literature.

Methods
The literature search was performed through PubMed, MEDLINE, Cochrane, Academic One Files, Google Scholar, and Scopus databases. All studies reporting information on CAH, DSD, testicular adrenal rest tumor (TARTs), and fertility in patients with POR gene pathogenic variants were included. Finally, the prevalence of abnormal phenotypes was calculated.

Results
Of the 246 articles initially retrieved, only 48 were included for a total of 119 (46 males and 73 females) patients with PORD. We also included the case of a male patient who consulted us for CAH and TARTs but without DSD. This patient, found to be a carrier of combined heterozygous POR mutation, reached fatherhood spontaneously. All the patients found had CAH. The presence of DSD was found in 65.2%, 82.1%, and 82.1% of patients with compound heterozygosity, homozygosity, or monoallelic heterozygous variants, respectively. The prevalence was significantly higher in females than in males. The prevalence of TARTs in patients with PORD is 2.7%. Only 5 women with PORD became pregnant after assisted reproductive techniques and delivered a healthy baby. Except for the recently reported proband, no other studies focused on male infertility in patients with POR gene variants.

Conclusion
This systematic review of the literature reports the prevalence of CAH, DSD, and TARTs in patients with PORD. The unknown prevalence of POR gene pathogenetic variants and the paucity of studies investigating fertility do not allow us to establish whether PORD is associated with infertility. Further studies on both women and men are needed to clarify this relationship.
Aggregate interlock in fractured concrete mesoscale models: a novel finite element modelling approach
Authors: Jayasinghe Thushara , Gunawardena Tharaka , Mendis Priyan 
Published: July 2022

Abstract
Aggregate interlock is a stress transfer mechanism in cracked concrete. After concrete cracks under tensile loading, crack interfaces can experience significant slip deformation due to the applied crack kinematics. Upon rising slip along crack interfaces, aggregate interlock stresses are generated which transfer shear stress and normal stress. Many experimental programmes and analytical expressions have been developed for several decades. However, a finite element model considering realistic crack surfaces was still not developed. The complexity of developing a FE model lies due to the mesoscopic nature of the problem. In this study, concrete mesoscale models were employed to generate realistic cracked concrete surfaces. Uniaxial tensile fracture propagation in concrete mesoscale models were achieved using Zero-thickness cohesive elements approach. Once cracked concrete FE models are developed, validation of the proposed FE models was conducted against two experimental campaigns. The study comprises the evaluation of the surface roughness index of the cracked concrete surfaces. The FE model predicts secondary cracking under low initial crack widths and mixed mode angles. FE predictions were further compared with Walraven’s simplified formulae, Bažant’s rough crack model, Cavagnis’s aggregate interlock formulae and contact density model and consistence agreement was observed. Finally, strengths and weaknesses of the proposed FE modelling approach for aggregate interlock was discussed and further implementations were also highlighted.
Does Size Matter? Genital Self-Image, Genital Size, Pornography Use and Openness Toward Cosmetic Genital Surgery in 3503 Swedish Men and Women
Authors: Hustad Ingvill Bagøien , Malmqvist Karin , Ivanova Ekaterina , Rück Christian , Enander Jesper 
Published: July 2022

ABSTRACT

Background
Dissatisfaction with the appearance and size of one’s genitalia is a common issue, and the use of cosmetic genital surgery is increasing among people with normal genitalia.

Aim
This cross-sectional study aimed to investigate the distribution of genital self-image in a large sample of males and females, and whether selected factors could predict genital self-image.

Methods
Three thousand five hundred three anonymous participants completed online questionnaires. Multiple linear regressions were used to identify the association between genital self-image and genital size (length of penis or protrusion of labia minora), consumption of sexually explicit material (SEM), sexual activity, avoidance and safety seeking behaviors, openness toward genital cosmetic surgery and age.

Outcomes
Total scores on the Female and Male Genital Self Image Scale were used as the main outcome measures.

Results
Overall, 3.6% of females and 5.5% of males had a severely low genital self-image (defined as 2 SD below the mean) and 33.8% of all individuals reported dissatisfaction with the appearance of their genitalia, with 13.7% of females and 11.3% of males considering undergoing cosmetic genital surgery. Mean protrusion of labia minora and stretched flaccid penis length in the population was estimated to 0.76 cm (95% CI 0.63–0.89 cm) and 12.5 cm (95% CI 12.33–12.76 cm), respectively. A higher genital self-image score was predicted by having a larger penis or less protruding labia minora, but not by the degree of SEM consumption, although 93.6% of males and 57.5% of females had consumed SEM in the past three months. The degree of avoidance and safety seeking behaviors, sexual activity, and openness toward genital cosmetic surgery predicted a low genital self-image. Being older was associated with a better genital self-image in females.

Clinical Implications
The results show that a psychological intervention may be needed as an alternative to cosmetic genital surgery for people who are dissatisfied with the appearance of their genitals.

Strengths and Limitations
This is one of few available studies investigating the association between actual genital size and genital dissatisfaction. The vast sample size and high response rate are also strengths. Limitations include the cross-sectional design, and possible bias in the study sample due to self-selection.

Conclusion
Overall, a low genital self-image and dissatisfaction with one’s genitalia is relatively common and is influenced not only by genital size, but also behaviors performed to alleviate worry about one’s genitals.
Characterization of Female Sexual Dysfunction Associated with Spinal Pathology and Surgery
Authors: Moscicki Patricia , Bachmann Gloria A. 
Published: July 2022

AbstractIntroductionStudies demonstrate the connection between adverse sexual function and medical conditions such as diabetes and heart disease. However, in the areas of spinal and spinal cord pathologies that require surgical interventions, there are scant data.ObjectivesWe undertook a narrative review to synthesize what is known on the topic, raise awareness, and call for action.MethodsPubMed and Google Scholar identified case reports and primary studies evaluating female sexual dysfunction associated with spinal pathology as well as surgical intervention success were reviewed to contextualize and characterize female sexual dysfunction.ResultsAvailable case reports and primary studies suggest that female sexual dysfunction can result from traumatic spinal etiologies, malignant tumors, and benign tumors with and without bony involvement. Although identified as a key preoperative predictor in maintenance or improvement of neurologic status, sexuality is rarely addressed in the neurosurgical care plan. In spinal stenosis and degenerative spine disease, over half of patients report pain with sexual activity. Importantly, while pain can hinder sexual activity in females, there are other sexual issues, including desire and subjective arousal, lubrication, orgasm, and satisfaction that are usually not explored. Studies show the impact of spinal pathologies on frequency of sexual intercourse, hypoesthesia, anorgasmia, and depression. Surgical intervention of spinal pathologies has been cited to improve back pain however other types of sexual dysfunction usually fails to improve after surgical intervention.ConclusionsThe lack of high-quality research with adequate numbers of female participants that appropriately characterizes the nuances of female sexual dysfunction across various spinal pathologies, with post-surgical intervention analysis and consideration of surgical approach, necessitates consideration for future study. A pre-op and post-op sexual history in all woman undergoing spinal surgery should be a standard of care.
CRISPR-Cas12a nucleases function with structurally engineered crRNAs: SynThetic trAcrRNA
Authors: Jedrzejczyk D. J. , Poulsen L. D. , Mohr M. , Damas N. D. , Schoffelen S. , Barghetti A. , Baumgartner R. , Weinert B. T. , Warnecke T. , Gill R. T. 
Published: July 2022

AbstractCRISPR-Cas12a systems are becoming an attractive genome editing tool for cell engineering due to their broader editing capabilities compared to CRISPR-Cas9 counterparts. As opposed to Cas9, the Cas12a endonucleases are characterized by a lack of trans-activating crRNA (tracrRNA), which reduces the complexity of the editing system and simultaneously makes CRISPR RNA (crRNA) engineering a promising approach toward further improving and modulating editing activity of the CRISPR-Cas12a systems. Here, we design and validate sixteen types of structurally engineered Cas12a crRNAs targeting various immunologically relevant loci in-vitro and in-cellulo. We show that all our structural modifications in the loop region, ranging from engineered breaks (STAR-crRNAs) to large gaps (Gap-crRNAs), as well as nucleotide substitutions, enable gene-cutting in the presence of various Cas12a nucleases. Moreover, we observe similar insertion rates of short HDR templates using the engineered crRNAs compared to the wild-type crRNAs, further demonstrating that the introduced modifications in the loop region led to comparable genome editing efficiencies. In conclusion, we show that Cas12a nucleases can broadly utilize structurally engineered crRNAs with breaks or gaps in the otherwise highly-conserved loop region, which could further facilitate a wide range of genome editing applications.
An experimental investigation of laser scabbling on cement-based materials using nanosecond fiber laser
Authors: Van Huynh Tam , Mondal Mounarik , Lee Dongkyoung 
Published: July 2022

AbstractIn this study, the influence of a pulsed fiber laser of 250 W power with a spot size of 40 µm was successfully analyzed during scabbling of six types of cement mortar and three types of ultra-high-performance concrete (UHPC). Confocal microscopy on the surface of the scabbled samples elucidated the formation of three distinct zones: glassy layer (GL), partially melted zone (PMZ), and heat-affected zone (HAZ) with unique morphological appearances. The glassy layer exhibited bubble formation, whereas cracks were spotted alongside the scabbled area. The difference in scabbling depth between the beginning and end of the process was revealed by using 3D topography images. Moreover, the development of pores and the changes in the microstructure of each zone were observed by using scanning electron microscopy (SEM). Further energy dispersive X-ray (EDX) analysis also revealed significant changes in the percentage of silicon and calcium inside the glassy layer and non-processed zone (NPZ).
Development and characterization of a camelid derived antibody targeting a linear epitope in the hinge domain of human PCSK9 protein
Authors: Li Xinyang , Hong Jun , Gao Xiaoyan , Wang Meiniang , Yang Naibo 
Published: July 2022

AbstractPCSK9 is an effective target for lowering LDL-c. Previously, a camelid-human chimeric heavy chain antibody VHH-B11-Fc targeting human PCSK9 was designed. It had a potent hypolipidemic effect. However, the nanobody VHH-B11 interacts with PCSK9 at low affinity, while camelid VHH exhibits some immunogenicity. Moreover, the interacting epitope is yet to be identified, although VHH-B11 was shown to have distinct hPCSK9-binding epitopes for Evolocumab. This might impede the molecule’s progress from bench to bedside. In the present study, we designed various configurations to improve the affinity of VHH-B11 with hPCSK9 (< 10 nM) that in turn enhanced the druggability of VHH-B11-Fc. Then, 17 amino acids were specifically mutated to increase the degree of humanization of the nanobody VHH-B11. Using phage display and sequencing technology, the linear epitope “STHGAGW” (amino acids 447–452) was identified in the hinge region of PCSK9 as the interacting site between VHH-B11-Fc and hPCSK9. Unlike the interaction epitope of Evolocumab, located in the catalytic region of PCSK9, the binding epitope of VHH-B11 is located in the hinge region of PCSK9, which is rarely reported. These findings indicated that a specific mechanism underlying this interaction needs to be explored.
PAI-1 is a potential transcriptional silencer that supports bladder cancer cell activity
Authors: Furuya Hideki , Sasaki Yuka , Chen Runpu , Peres Rafael , Hokutan Kanani , Murakami Kaoru , Kim Nari , Chan Owen T. M. , Pagano Ian , Dyrskjøt Lars , Jensen Jørgen B. , Malmstrom Per-Uno , Segersten Ulrika , Sun Yijun , Arab Abolfazl , Goodarzi Hani , Goodison Steve , Rosser Charles J. 
Published: July 2022

AbstractThe extracellular activity of Plasminogen activator inhibitor-1 (PAI-1) is well described, acting as an inhibitor of tissue plasminogen activator and urokinase-type plasminogen activator, impacting fibrinolysis. Recent studies have revealed a pro-tumorigenic role of PAI-1 in human cancers, via the regulation of angiogenesis and tumor cell survival. In this study, immunohistochemical staining of 939 human bladder cancer specimens showed that PAI-1 expression levels correlated with tumor grade, tumor stage and overall survival. The typical subcellular localization of PAI-1 is cytoplasmic, but in approximately a quarter of the cases, PAI-1 was observed to be localized to both the tumor cell cytoplasm and the nucleus. To investigate the potential function of nuclear PAI-1 in tumor biology we applied chromatin immunoprecipitation (ChIP)-sequencing, gene expression profiling, and rapid immunoprecipitation mass spectrometry to a pair of bladder cancer cell lines. ChIP-sequencing revealed that PAI-1 can bind DNA at distal intergenic regions, suggesting a role as a transcriptional coregulator. The downregulation of PAI-1 in bladder cancer cell lines caused the upregulation of numerous genes, and the integration of ChIP-sequence and RNA-sequence data identified 57 candidate genes subject to PAI-1 regulation. Taken together, the data suggest that nuclear PAI-1 can influence gene expression programs and support malignancy.
The B-Score is a novel metric for measuring the true performance of blood pressure estimation models
Authors: Bothe Tomas L. , Patzak Andreas , Pilz Niklas 
Published: July 2022

AbstractWe aimed to develop and test a novel metric for the relative performance of blood pressure estimation systems (B-Score). The B-Score sets absolute blood pressure estimation model performance in contrast to the dataset the model is tested upon. We calculate the B-Score based on inter- and intrapersonal variabilities within the dataset. To test the B-Score for reliable results and desired properties, we designed generic datasets with differing inter- and intrapersonal blood pressure variability. We then tested the B-Score’s real-world functionality with a small, published dataset and the largest available blood pressure dataset (MIMIC IV). The B-Score demonstrated reliable and desired properties. The real-world test provided allowed the direct comparison of different datasets and revealed insights hidden from absolute performance measures. The B-Score is a functional, novel, and easy to interpret measure of relative blood pressure estimation system performance. It is easily calculated for any dataset and enables the direct comparison of various systems tested on different datasets. We created a metric for direct blood pressure estimation system performance. The B-Score allows researchers to detect promising trends quickly and reliably in the scientific literature. It further allows researchers and engineers to quickly assess and compare performances of various systems and algorithms, even when tested on different datasets.
Leveraging whole blood based functional flow cytometry assays to open new perspectives for rheumatoid arthritis translational research
Authors: Cartagena García Celia , Balandraud Nathalie , Roudier Jean , Lafforgue Pierre , Lambert Nathalie , Busnel Jean-Marc 
Published: July 2022

AbstractDespite introduction of biological disease modifying anti-rheumatic drugs (DMARDs) for Rheumatoid arthritis (RA) treatment, therapeutic strategies do not always lead to disease control and remission. Hence, a more efficient patient stratification and monitoring biomarkers and tools are needed to enable a more personalized medicine. We used a whole blood based functional flow cytometry assay to characterize immune cells from RA patients (treated or not), healthy donors and psoriatic arthritis (PsA) patients according to their responses to LPS and/or anti-TNFα (infliximab, IFX). Activation marker expression was measured using a 10-color flow cytometry panel following a no-wash protocol. Naïve-to-treatment RA patients had a stronger inflammatory profile in comparison to healthy donors at basal level. Higher expression of activation markers (CD69 and/or CD11b) on NK, B cells and granulocytes and lower expression of the adhesion molecule CD62L were measured on monocytes, granulocytes and B cells. After LPS, naïve RA patients’ cells were less capable of regulating CD69, CD11b, CD16 or CD62L showing impaired activation capabilities. Upon LPS and IFX co-incubation, hierarchical clustering analysis showed different profiles between cohorts. We believe that this whole blood-based approach should further be assessed for RA patient characterization as it provides new perspectives for stratification and/or monitoring.
Enhanced performance and stability in InGaZnO NIR phototransistors with alumina-infilled quantum dot solid
Authors: Kim Yoon-Seo , Oh Hye-Jin , Shin Seungki , Oh Nuri , Park Jin-Seong 
Published: July 2022

AbstractThe optimized ALD infilling process for depositing Al2O3 in the vertical direction of PbS QDs enhances the photoresponsivity, relaxation rate and the air stability of PbS QDs hybrid IGZO NIR phototransistors. Infilled Al2O3, which is gradually deposited from the top of PbS QDs to the PbS/IGZO interface (1) passivates the trap sites up to the interface of PbS/IGZO without disturbing charge transfer and (2) prevents QDs deterioration caused by outside air. Therefore, an Al2O3 infilled PbS QD/IGZO hybrid phototransistor (AI-PTs) exhibited enhanced photoresponsivity from 96.4 A/W to 1.65 × 102 A/W and a relaxation time decrease from 0.52 to 0.03 s under NIR light (880 nm) compared to hybrid phototransistors without Al2O3 (RF-PTs). In addition, AI-PTs also showed improved shelf stability over 4 months compared to RF-PTs. Finally, all devices we manufactured have the potential to be manufactured in an array, and this ALD technique is a means of fabricating robust QDs/metal oxide hybrids for optoelectronic devices.
Spectrum sensing based on adversarial transfer learning
Authors: Miao Jiawu , Li Yuebo , Jing Xiaojun , Zhang Fangpei , Mu Junsheng 
Published: July 2022

AbstractRecently, deep learning (DL) based spectrum sensing (SS) has drawn much attention due to its better capacity of feature extraction and superb performance. However, the model robustness of the DL based scheme is limited by reason of the dynamic radio environment, leading to the floating of sensing performance. Motivated by this, adversarial transfer learning is applied to SS here, where the model is pre‐trained at the central node firstly and fine‐tuned at the local nodes. More specifically, a 2D dataset of the observed signal is constructed under various signal‐to‐noise‐ratio (SNRs) and a convolution neural network (CNN) model is designed. Then a part of samples with various SNRs in the constructed dataset are employed to pre‐train the proposed CNN model. After that, the pre‐trained CNN model is distributed to local nodes with different SNRs and the pre‐trained CNN model is fine‐tuned. The proposed CNN model is pre‐trained based on the samples under various SNRs, resulting in its stronger adaptability at the local node. The simulation experiments validate the effectiveness of the proposed scheme.
An innovative method to eliminate multiple exponentially decaying DC components based on the discrete Fourier transform in the numerical distance relay
Authors: Parpaei Mohammad , Abyaneh Hossein Askarian , Razavi Farzad 
Published: July 2022

AbstractExponentially decaying direct current (EDDC) components in the faulted current of a power system can result in an imprecise estimation of the fundamental frequency component. Because of sources such as the faulted transmission line, the current transformer (CT), and the relay's internal CT, current signals tend to include multiple EDDC components. This paper presents an accurate model of the faulted current, including a new term of EDDC components that belongs to the relay's internal CT along with the transmission line and the CT response. Moreover, this paper proposes an innovative algorithm to eliminate multiple EDDC components. The feasibility and performance of the proposed algorithm were validated using several static, dynamic, and experimental tests. The static test was carried out using MathWorks’ MATLAB® software. For dynamic validation, the transient data of a power system (simulated in the commercial PSCAD© software) were employed to test the performance of the propounded method. The experimental test was performed on a distance protective relay manufactured by VEBKO AMIRKABIR Co. The main advantages of this method include the practical feasibility resulting from its simple structure, the ability to effectively suppress the adverse influence of multiple EDDC components (including the response of the transmission line, the CT, and the relay's internal CT), and the accuracy in estimating the fundamental frequency component.
Siamese Sigmoid Networks for the open classification of grid disturbances in power transmission systems
Authors: Kummerow André , Dirbas Mohammad , Monsalve Cristian , Bretschneider Peter 
Published: July 2022

AbstractThe online classification of grid disturbances is an important prerequisite for an automated and reliable operation of power transmission systems. Most of the state‐of‐the‐art approaches assume that all classes are already known in the training phase and cannot handle new disturbance events, which appear in the application phase and lead to severe misclassifications. To mitigate this shortcoming, the disturbance detection is investigated as an open classification task and a novel recurrent Siamese neural network architecture is introduced to identify and locate known and unknown disturbance events from phasor measurements. Extending preliminary work, a probabilistic distance‐based classification approach with an integrated rejection mechanism is presented, which enables to learn class‐dependent decision boundaries and margins to reduce the open‐set risk. A detailed performance analysis is presented including multiple benchmark methods in different closed‐set and open‐set classification tasks for a simulated power transmission system. Additionally, a limited and full observability of the grid with phasor measurements are addressed in the experiments.