bluuebunny/crossref_metadata_2025_split huggingface dataset:
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis
Authors: Berger Seth I. , Pitsava Georgia , Cohen Andrea J. , Délot Emmanuèle C. , LoTempio Jonathan , Andrew Erin Hallie , Martin Gloria Mas , Marmolejos Sofia , Albert Jessica , Meltzer Beatrix , Fraser Jamie , Regier Debra S. , Kahn‐Kirby Amanda H. , Smith Erica , Knoblach Susan , Ko Arthur , Fusaro Vincent A. , Vilain Eric 
Published: May 2023

AbstractWe evaluated the diagnostic yield using genome‐slice panel reanalysis in the clinical setting using an automated phenotype/gene ranking system. We analyzed whole genome sequencing (WGS) data produced from clinically ordered panels built as bioinformatic slices for 16 clinically diverse, undiagnosed cases referred to the Pediatric Mendelian Genomics Research Center, an NHGRI‐funded GREGoR Consortium site. Genome‐wide reanalysis was performed using Moon™, a machine‐learning‐based tool for variant prioritization. In five out of 16 cases, we discovered a potentially clinically significant variant. In four of these cases, the variant was found in a gene not included in the original panel due to phenotypic expansion of a disorder or incomplete initial phenotyping of the patient. In the fifth case, the gene containing the variant was included in the original panel, but being a complex structural rearrangement with intronic breakpoints outside the clinically analyzed regions, it was not initially identified. Automated genome‐wide reanalysis of clinical WGS data generated during targeted panels testing yielded a 25% increase in diagnostic findings and a possibly clinically relevant finding in one additional case, underscoring the added value of analyses versus those routinely performed in the clinical setting.
scRNA‐seq and proteomics reveal the distinction of M2‐like macrophages between primary and recurrent malignant glioma and its critical role in the recurrence
Authors: You Guiting , Zheng Zhenyu , Huang Yulong , Liu Guifen , Luo Wei , Huang Jianhuang , Zhuo Longjin , Tang Binghua , Liu Shunyi , Lin Caihou 
Published: May 2023

AbstractAimsTumor‐associated macrophages (TAMs) in the immune microenvironment play an important role in the increased drug resistance and recurrence of malignant glioma, but the mechanism remains incompletely inventoried. The focus of this study was to investigate the distinctions of M2‐like TAMs in the immune microenvironment between primary and recurrent malignant glioma and its influence in the recurrence.MethodsWe employed single‐cell RNA sequencing to construct a single‐cell atlas for a total of 23,010 individual cells from 6 patients with primary or recurrent malignant glioma and identified 5 cell types, including TAMs and malignant cells. Immunohistochemical techniques and proteomics analysis were performed to investigate the role of intercellular interaction between malignant cells and TAMs in the recurrence of malignant glioma.ResultsSix subgroups of TAMs were annotated and M2‐like TAMs were found to increase in recurrent malignant glioma significantly. A pseudotime trajectory and a dynamic gene expression profiling during the recurrence of malignant glioma were reconstructed. Up‐regulation of several cancer pathways and intercellular interaction‐related genes are associated with the recurrence of malignant glioma. Moreover, the M2‐like TAMs can activate the PI3K/Akt/HIF‐1α/CA9 pathway in the malignant glioma cells via SPP1‐CD44‐mediated intercellular interaction. Interestingly, high expression of CA9 can trigger the immunosuppressive response in the malignant glioma, thus promoting the degree of malignancy and drug resistance.ConclusionOur study uncovers the distinction of M2‐like TAMs between primary and recurrent glioma, which offers unparalleled insights into the immune microenvironment of primary and recurrent malignant glioma.
4,4′‐Thiobis(2‐tert‐butyl‐5‐methylphenol), an antioxidant in medical devices that may cause allergic contact dermatitis
Authors: Antelmi Annarita , Lejding Tina , Bruze Magnus , Mowitz Martin , Dahlin Jakob 
Published: May 2023

AbstractBackgroundAntioxidants in medical devices, added to protect polymers or adhesives, may also cause contact dermatitis in some individuals.ObjectivesTo present data on sensitization to 4,4′‐thiobis(2‐tert‐butyl‐5‐methylphenol), an antioxidant detected in some types of medical devices, for six patients that experienced eczematous reactions to different medical devices.MethodsPatch testing with 4,4′‐thiobis(2‐tert‐butyl‐5‐methylphenol), 1% pet was performed. Gas chromatography‐mass spectrometry (GC‐MS) was used for identification of 4,4′‐thiobis(2‐tert‐butyl‐5‐methylphenol) in different medical device products.ResultsSix patients with contact allergy to 4,4′‐thiobis(2‐tert‐butyl‐5‐methylphenol) also had relevant contact allergic reactions to medical devices containing the antioxidant. The presence of the antioxidant in products was detected using GC‐MS analysis.ConclusionsThe antioxidant 4,4′‐thiobis(2‐tert‐butyl‐5‐methylphenol) may cause allergic contact dermatitis after exposure to different medical devices.
Excitatory/inhibitory balance in epilepsies and neurodevelopmental disorders: Depolarizing γ‐aminobutyric acid as a common mechanism
Authors: van van Hugte Eline J. H. , Schubert Dirk , Nadif Kasri Nael 
Published: May 2023

AbstractEpilepsy is one of the most common neurological disorders. Although many factors contribute to epileptogenesis, seizure generation is mostly linked to hyperexcitability due to alterations in excitatory/inhibitory (E/I) balance. The common hypothesis is that reduced inhibition, increased excitation, or both contribute to the etiology of epilepsy. Increasing evidence shows that this view is oversimplistic, and that increased inhibition through depolarizing γ‐aminobutyric acid (GABA) similarly contributes to epileptogenisis. In early development, GABA signaling is depolarizing, inducing outward Cl− currents due to high intracellular Cl− concentrations. During maturation, the mechanisms of GABA action shift from depolarizing to hyperpolarizing, a critical event during brain development. Altered timing of this shift is associated with both neurodevelopmental disorders and epilepsy. Here, we consider the different ways that depolarizing GABA contributes to altered E/I balance and epileptogenesis, and discuss that alterations in depolarizing GABA could be a common denominator underlying seizure generation in neurodevelopmental disorders and epilepsies.
RETRACTED: The relationship between vitamin D deficiency and diabetic foot ulcer: A meta‐analysis
Authors: Li Xin , Kou Shaojie , Chen Guo , Zhao Bingjie , Xue Jingdong , Ding Rui , Zhao Xiaoyan , Ye Miaoqing , Yang Yueqing , Yue Rensong , Li Fenping 
Published: May 2023

AbstractA meta‐analysis investigation to measure the relationship between vitamin D deficiency (VDD) and diabetic foot ulcer (DFU). A comprehensive literature inspection till February 2023 was applied and 1765 interrelated investigations were reviewed. The 15 chosen investigations enclosed 2648 individuals with diabetes mellitus in the chosen investigations' starting point, 1413 of them were with DFUs, and 1235 were without DFUs. Odds ratio (OR) in addition to 95% confidence intervals (CIs) were used to compute the value of the relationship between VDD and DFU by the dichotomous and continuous approaches and a fixed or random model. Individuals with DFUs had significantly lower vitamin D levels (VDL) (MD, −7.14; 95% CI, −8.83 to −5.44, P < 0.001) compared to those without DFU individuals. Individuals with DFUs had a significantly higher number of VDD individuals (OR, 2.27; 95% CI, 1.63‐3.16, P < 0.001) compared to those without DFU individuals. Individuals with DFU had significantly lower VDL and a significantly higher number of VDD individuals compared to those without DFU individuals. However, caused of the small sample sizes of several chosen investigations for this meta‐analysis, care must be exercised when dealing with its values.
Does rapid discharge after breast cancer surgery have an impact on wound healing and complications? COVID‐19 pandemic experience
Authors: Pösteki Gökhan 
Published: May 2023

AbstractThe COVID‐19 pandemic has challenged the health systems worldwide. Because of high volume of COVID‐19 patients, all hospitals in our region were re‐configured as COVID‐19 centres and elective surgery procedures were cancelled. Our clinic was the only active centre in the region and grave increase in our patient volume urged our clinic to modify our discharge protocol. This retrospective study included all breast cancer patients underwent mastectomy and/or axillary dissection, in the Breast Surgery Clinic of Kocaeli State Hospital, a regional pandemic hospital, between December 2020 and January 2021. Patients were mostly discharged the day of surgery with drains because of congestion, while some of the patients had traditional stay, when beds were available. The patients were evaluated postoperatively (the first 30 days) in terms of wound complications, Clavien‐Dindo classification grade, satisfaction, presence of pain and nausea, and treatment costs during the follow‐up period of the study. Outcomes were compared between early discharged patients and patients who had traditional long stay. Compared with long‐stay patients, in the early discharged group, postoperative wound complications was significantly lower (P < .01) with significant cost savings. There were no significant changes in variables such as surgery type, ASA class, satisfaction, need for additional medication and Clavien‐Dindo between the groups. Adaptation to an early discharge protocol for breast cancer surgeries may be an efficient way of practicing surgery in a pandemic. Early discharge with drains may be beneficial for patients.
Molecular mechanisms ofEda‐mediated adaptation to freshwater in threespine stickleback
Authors: Rodríguez‐Ramírez Carlos E. , Hiltbrunner Melanie , Saladin Verena , Walker Stephanie , Urrutia Araxi , Peichel Catherine L. 
Published: May 2023

AbstractA main goal of evolutionary biology is to understand the genetic basis of adaptive evolution. Although the genes that underlie some adaptive phenotypes are now known, the molecular pathways and regulatory mechanisms mediating the phenotypic effects of those genes often remain a black box. Unveiling this black box is necessary to fully understand the genetic basis of adaptive phenotypes, and to understand why particular genes might be used during phenotypic evolution. Here, we investigated which genes and regulatory mechanisms are mediating the phenotypic effects of theEdahaplotype, a locus responsible for the loss of lateral plates and changes in the sensory lateral line of freshwater threespine stickleback (Gasterosteus aculeatus) populations. Using a combination of RNAseq and a cross design that isolated theEdahaplotype on a fixed genomic background, we found that theEdahaplotype affects both gene expression and alternative splicing of genes related to bone development, neuronal development and immunity. These include genes in conserved pathways, like the BMP, netrin and bradykinin signalling pathways, known to play a role in these biological processes. Furthermore, we found that differentially expressed and differentially spliced genes had different levels of connectivity and expression, suggesting that these factors might influence which regulatory mechanisms are used during phenotypic evolution. Taken together, these results provide a better understanding of the mechanisms mediating the effects of an important adaptive locus in stickleback and suggest that alternative splicing could be an important regulatory mechanism mediating adaptive phenotypes.
Accommodative disorders in non‐presbyopic subjects with type 1 diabetes without retinopathy: A comparative, cross‐sectional study
Authors: Silva‐Viguera María‐Carmen , Bautista‐Llamas María‐José 
Published: May 2023

AbstractPurposeThe purpose of this study was to assess accommodative function in non‐presbyopic individuals diagnosed with type 1 diabetes (T1D) without any signs of retinopathy, to determine the existence of possible accommodative disorders related to this disease, and to determine the influence of T1D duration and glycosylated haemoglobin values on accommodative function.MethodsThis comparative, cross‐sectional study included 60 participants between 11 and 39 years old, 30 with T1D and 30 controls, with no previous eye surgery, ocular disease or medication that could affect the results of the visual examination. Amplitude of accommodation (AA), negative and positive relative accommodation (NRA and PRA), accommodative response (AR) and accommodative facility (AF) were assessed using the tests that showed the highest repeatability. Participants were classified based on normative values into ‘insufficiency, excess or normal results’, and a diagnosis of accommodative disorders (accommodative insufficiency, accommodative infacility and accommodative excess) was made.ResultsParticipants with T1D had statistically significant lower AA and AF and higher NRA values than the controls. Furthermore, AA was significantly and inversely correlated with age and the duration of diabetes; however, AF and NRA were only correlated with disease duration. In the classification by accommodative variables, a higher percentage of ‘insufficiency values’ was observed in the T1D group (50%) than in the control group (6%; p < 0.001). In terms of accommodative disorders, accommodative infacility was the most prevalent (15%), followed by accommodative insufficiency (10%).ConclusionsOur findings indicate that T1D affects most accommodative parameters, with accommodative insufficiency being associated with this disease.
The RUBY reporter enables efficient haploid identification in maize and tomato
Authors: Wang Dong , Zhong Yu , Feng Bin , Qi Xiaolong , Yan Tongzheng , Liu Jinchu , Guo Shuwei , Wang Yuwen , Liu Zongkai , Cheng Dehe , Zhang Yuling , Shi Yunlu , Zhang Shuaisong , Pan RuXue , Liu Chenxu , Chen Shaojiang 
Published: May 2023

SummaryIn vivo haploid induction has been extended from maize to monocotyledonous plants like rice, wheat, millet and dicotyledonous plants such as tomato, rapeseed, tobacco and cabbage. Accurate identification of haploids is a crucial step of doubled haploid technology, where a useful identification marker is very pivotal. R1‐nj is an extensively used visual marker for haploid identification in maize. RFP and eGFP have been shown to be feasible in identifying haploid. However, these methods are either limited to specific species, or require specific equipment. It still lacks an efficient visual marker that is practical across different crop species. In this study, we introduced the RUBY reporter, a betalain biosynthesis system, into maize and tomato haploid inducers as a new marker for haploid identification. Results showed that expression of RUBY could result in deep betalain pigmentation in maize embryos as early as 10 days after pollination, and enabled 100% accuracy of immature haploid embryo identification. Further investigation in tomato revealed that the new marker led to deep red pigmentation in radicles and haploids can be identified easily and accurately. The results demonstrated that the RUBY reporter is a background‐independent and efficient marker for haploid identification and would be promising in doubled haploid breeding across different crop species.
Experience of missed nursing care: A mixed method study
Authors: Mandal Lata , Seethalakshmi A. 
Published: May 2023

AbstractBackgroundMissed nursing care is a global phenomenon affecting patient safety and quality of care. The working environment of nurses seems to play an important role in missed nursing care.AimsThis study was conceptualized to explore the link of environmental constraints with missed nursing care in the Indian context.MethodA convergent mixed‐method design was adopted, and data was collected using Kalisch's MISSCARE survey from 205 randomly selected nurses involved in direct patient care in the acute care settings of four tertiary care hospitals in India. In the qualitative phase, in‐depth interviews regarding nurses' experience of missed care were performed with 12 nurses chosen by maximum variant sampling from the quantitative sample.ResultsThe integrated results revealed that nurses experience a sense of competing priority in the environment where curative and prescribed tasks like medication administration get more priority than activities like communication, discharge teaching, oral hygiene, and emotional support, which are frequently missed. The human resource and communication constraints together explained 40.6% of variance in missed nursing care. Human resource inadequacy in times of increased workload was the most frequently cited reason for missed care. Converging with this finding, nurses in the interviews expressed that maintaining a flexible number of staff and catering to the variable workload can effectively reduce missed nursing care. Frequent interruption of nursing activities by medical staff and lack of structure in some activities were cited as important reasons for missed care.Linking Evidence to ActionNursing leaders need to acknowledge missed care in nursing and develop policies to maintain flexible staffing based on situational workload. Methods of staffing like NHPPD (Nursing hour per patient day) which are more sensitive to nursing workload, and patient turnover, can be adopted instead of a fixed nurse–patient mandate. Mutual support from team members and multi‐professional cooperation can reduce frequent interruption of nursing tasks thereby reducing missed care.
Activation of TRPV4 channels promotes the loss of cellular ATP in organotypic slices of the mouse neocortex exposed to chemical ischemia
Authors: Pape Nils , Rose Christine R. 
Published: May 2023

AbstractThe vertebrate brain has an exceptionally high energy need. During ischemia, intracellular ATP concentrations decline rapidly, resulting in the breakdown of ion gradients and cellular damage. Here, we employed the nanosensor ATeam1.03YEMKto analyse the pathways driving the loss of ATP upon transient metabolic inhibition in neurons and astrocytes of the mouse neocortex. We demonstrate that brief chemical ischemia, induced by combined inhibition of glycolysis and oxidative phosphorylation, results in a transient decrease in intracellular ATP. Neurons experienced a larger relative decline and showed less ability to recover from prolonged (>5 min) metabolic inhibition than astrocytes. Blocking voltage‐gated Na+channels or NMDA receptors ameliorated the ATP decline in neurons and astrocytes, while blocking glutamate uptake aggravated the overall reduction in neuronal ATP, confirming the central role of excitatory neuronal activity in the cellular energy loss. Unexpectedly, pharmacological inhibition of transient receptor potential vanilloid 4 (TRPV4) channels significantly reduced the ischemia‐induced decline in ATP in both cell types. Imaging with Na+‐sensitive indicator dye ING‐2 furthermore showed that TRPV4 inhibition also reduced ischemia‐induced increases in intracellular Na+. Altogether, our results demonstrate that neurons exhibit a higher vulnerability to brief metabolic inhibition than astrocytes. Moreover, they reveal an unexpected strong contribution of TRPV4 channels to the loss of cellular ATP and suggest that the demonstrated TRPV4‐related ATP consumption is most likely a direct consequence of Na+influx. Activation of TRPV4 channels thus provides a hitherto unacknowledged contribution to the cellular energy loss during energy failure, generating a significant metabolic cost in ischemic conditions.imageKey pointsIn the ischemic brain, cellular ATP concentrations decline rapidly, which results in the collapse of ion gradients and promotes cellular damage and death.We analysed the pathways driving the loss of ATP upon transient metabolic inhibition in neurons and astrocytes of the mouse neocortex.Our results confirm the central role of excitatory neuronal activity in the cellular energy loss and demonstrate that neurons experience a larger decline in ATP and are more vulnerable to brief metabolic stress than astrocytes.Our study also reveals a new, previously unknown involvement of osmotically activated transient receptor potential vanilloid 4 (TRPV4) channels to the reduction in cellular ATP in both cell types and indicates that this is a consequence of TRPV4‐mediated Na+influx.We conclude that activation of TRPV4 channels provides a considerable contribution to the cellular energy loss, thereby generating a significant metabolic cost in ischemic conditions.
Intertwining noncommutativity with gravity and particle physics
Authors: Manolakos G. , Manousselis P. , Roumelioti D. , Stefas S. , Zoupanos G. 
Published: May 2023

AbstractHere we present an overview on the various works, in which many collaborators have contributed, regarding the interesting dipole of noncommutativity and physics. In brief, we present the features that noncommutativity triggers both in the fields of gravity and particle physics, from a matrix-realized perspective, with the notion of noncommutative gauge theories to play the most central role in the whole picture. Also, under the framework of noncommutativity, we examine the possibility of unifying the two fields (gravity-particle physics) in a single configuration.
Optical quantum longitudinal conformable normalization energy of timelike spherical magnetic fibers
Authors: Körpinar Talat , Körpinar Zeliha , Özdemir Hatice 
Published: May 2023

In this work, we calculate new concept for their Fermi–Walker conformable derivatives with spherical timelike magnetic fiber in spherical de-Sitter space [Formula: see text]. The description is advanced for timelike magnetic trajectory. First, we find conformable fractional derivatives of spherical magnetic Lorentz fields. Moreover, we compute the Fermi–Walker conformable derivatives of the normalization and recursion operators for these spherical vector fields. Furthermore, we give some characterizations of Lorentz fields of electromagnetic fields of associated with spherical magnetic conformable particle. Finally, we obtain the energy of the conformable derivative of the normalization function of the Lorentz forces and we have energy relations of some vector fields associated with spherical frame in the de-Sitter space [Formula: see text].
A Wideband, Sharp Roll-Off U-Band Diplexer in Suspended Stripline Technology
Authors: Miri Seyed-Milad , Mohammadpour-Aghdam Karim , Miri Seyed-Omidreza 
Published: May 2023

This paper presents a low-loss, sharp roll-off, and wideband millimeter-wave contiguous diplexer implemented on 0.127 mm-thick TLY5 dielectric material to separate U-band frequency range into two jointed frequency ranges of 40-50 GHz and 50-60 GHz using two low-pass and high-pass filter channels. In order to integrate the diplexer in the front end of a wideband millimeter-wave down-converter and evaluate the frequency response, the proposed diplexer is supported by three add-on waveguide-to-suspended-stripline transitions. The final design of diplexer consisting of a low-pass filter with cut-off frequency of 50 GHz, a pseudo-high-pass filter with crossover at 50 GHz, and a T-junction is analyzed and optimized together with a 3D full-wave simulator. The realized diplexer features a VSWR of 2.5 : 1 across the entire operation frequency band of 40-60 GHz, low passband insertion loss of less than 2 dB in both channels, stopband rejection higher than 45 dB, and compact size with dimensions of

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mm2 due to its intelligent and guided design and technology selection.