bluuebunny/crossref_metadata_2025_split huggingface dataset:
KIF23 is a potential biomarker of diffuse large B cell lymphoma
Authors: Gong Yuqi , Zhou Lingna , Ding Liya , Zhao Jing , Wang Zhe , Ren Guoping , Zhang Jing , Mao Zhengrong , Zhou Ren 
Published: June 2022

Abstract
Diffuse Large B Cell Lymphoma (DLBCL), the most common form of blood cancer. The genetic and clinical heterogeneity of DLBCL poses a major barrier to diagnosis and treatment. Hence, we aim to identify potential biomarkers for DLBCL.
Differentially expressed genes were screened between DLBCL and the corresponding normal tissues. Kyoto Encyclopedia of Genes and Genomes and Gene oncology analyses were performed to obtain an insight into these differentially expressed genes. PPI network was constructed to identify hub genes. survival analysis was applied to evaluate the prognostic value of those hub genes. DNA methylation analysis was implemented to explore the epigenetic dysregulation of genes in DLBCL.
In this study, Kinesin family member 23 (KIF23) showed higher expression in DLBCL and was identified as a risk factor in DLBCL. The immunohistochemistry experiment further confirmed this finding. Subsequently, the univariate and multivariate analysis indicated that KIF23 might be an independent adverse factor in DLBCL. Upregulation of KIF23 might be a risk factor for the overall survival of patients who received an R-CHOP regimen, in late-stage, whatever with or without extranodal sites. Higher expression of KIF23 also significantly reduced 3, 5, 10-year overall survival. Furthermore, functional enrichment analyses (Kyoto Encyclopedia of Genes and Genomes, Gene oncology, and Gene Set Enrichment Analysis) showed that KIF23 was mainly involved in cell cycle, nuclear division, PI3K/AKT/mTOR, TGF-beta, and Wnt/beta-catenin pathway in DLBCL. Finally, results of DNA methylation analysis indicated that hypomethylation in KIF23's promoter region might be the result of its higher expression in DLBCL.
The findings of this study suggested that KIF23 is a potential biomarker for the diagnosis and prognosis of DLBCL. However, further studies were needed to validate these findings.
Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene
Authors: Yue Fagui , Zhang Hongguo , Luo Lili , Liu Ruizhi , Jing Jili 
Published: June 2022

Abstract
Trisomy 6q is a recognizable syndrome which exhibits psychomotor/growth retardation, developmental/intellectual disabilities, feeding difficulties, facial dysmorphism, hearing loss, brain and heart malformations. The purpose of this study was to delineate the prenatal features of proximal 6q14.1 duplication in fetal period, which was rarely reported in clinic. Eight pregnant women who opted for amniocentesis due to the fetal ultrasound abnormalities, maternal serum screening or other indications for prenatal diagnosis between 2019 and 2020. Chromosomal microarray analysis and G-banding analysis were offered after informed consents were obtained. Cytogenetic prenatal investigation showed all fetuses presented normal karyotypes except case 4 exhibiting a balanced chromosomal translocation 46,XX,t (4;8)(p16;q24). The chromosomal microarray analysis detected 0.211–0.242 Mb duplications of 6q14.1 (chr6: 80109532–80351666, hg19) in all 8 cases, encompassing the morbid gene LCA5 in common. Seven pregnant women (P1-P7) continued their pregnancies and delivered healthy infants at term while the parents of case 8 opted for termination of pregnancy for severe abnormal ultrasound findings. Overall, all neonates were in a good healthy condition with no evident anomalies, ranging from 2 m to 16 m. It is proposed that 6q14.1 duplication involving LCA5 gene detected in our study might be variants of likely benign. However, further large-scale studies should be gathered to assess its pathogenicity. To our knowledge, our study is the first report focusing on prenatally detected proximal 6q14.1 duplication, accompanied by detailed clinic phenotypes. Diverse ultrasound findings were observed in these cases, ranging from normal to abnormal. More evidence should be gathered to interpret the prenatal genotype-phenotype correlation of 6q14.1 duplication. For these cases with 6q14.1 microduplication, long term follow up should be carried out in case abnormal clinical symptoms or developmental-behavioral disorders emerge.
Trajectories of perceived susceptibility to COVID-19 over a year
Authors: Opsasnick Lauren A. , Curtis Laura M. , Kwasny Mary J. , O’Conor Rachel , Wismer Guisselle A. , Benavente Julia Yoshino , Lovett Rebecca M. , Eifler Morgan R. , Zuleta Andrea M. , Bailey Stacy Cooper , Wolf Michael S. 
Published: June 2022

Abstract
The U.S. public health response to coronavirus disease 2019 (COVID-19) has been widely criticized as having downplayed the potential implications COVID-19 could have on one's personal health. Despite the unprecedented threat of COVID-19, many individuals still believed that it was not at all likely that they would become infected. We sought to investigate trends in adults’ perceived susceptibility to COVID-19 over the first year of the pandemic, whether distinct trajectories emerged, and if these trajectories differed by participant socio-demographic characteristics.
This was a longitudinal cohort study with 5 time points of data collection (March 13, 2020–March 3, 2021). Subjects included 627 adults living with ≥1 chronic conditions, who completed a baseline interview and at least one follow-up interview. In addition to collecting relevant socio-demographic characteristics, participants’ perceived susceptibility to COVID-19 across time was assessed and classified into distinct trajectories.
Nearly two-thirds (62.2%) of participants perceived themselves to be highly susceptible to COVID-19 from the onset of the pandemic (“early responders”) and sustained this over a year, a third (29.0%) eventually perceived themselves to be highly susceptible (“late responders”), and 8.8% maintained a low likelihood of susceptibility throughout the pandemic (“non-responders”). In multivariable analyses, compared to White participants, Latinx participants were significantly more likely to be non-responders and report low likelihood of perceived susceptibility (Risk Ratio [RR]: 3.46; 95% confidence interval: 1.19, 10.1), as were Black participants (RR: 5.49; 95% confidence interval: 2.19, 13.8).
A year into the COVID-19 pandemic, 1 out of 11 participants persistently did not think they might be susceptible and potentially infected. Future studies are needed to understand reasons why certain individuals, particularly those of racial/ethnic minorities, did not perceive themselves at risk for infection.
Effects of self-quarantine during the COVID-19 pandemic on patients with lumbar spinal stenosis
Authors: Hayashi Kazunori , Tanaka Toru , Sakawa Akira , Ebara Tsuneyuki , Tanaka Hidekazu , Nakamura Hiroaki 
Published: June 2022

Abstract
Prospective case-control study
This study aimed to investigate the effect of self-quarantine on the changes in low back symptoms and activities of daily living (ADL) due to low physical activity because of the COVID-19 pandemic in patients with lumbar spinal stenosis (LSS).
The frequency and intensity of low back and leg pain have reportedly increased in healthy subjects because of self-quarantine.
Patients with LSS who self-quarantined from baseline (SQ group) were matched to controls who did not self-quarantine (non-SQ group), based on age, sex, medication, ADL, and the numeric rating scale score for low back symptoms. The change in low back symptoms, ADL, and health-related quality of life between baseline and follow-up were compared between the groups.
The SQ and non-SQ group included 80 and 60 patients, respectively. Compared with the baseline, the numeric rating scale score for low back pain at follow-up in the SQ group significantly improved (P = .004, median; 1 point), but not in the non-SQ group. No significant difference was found regarding changes in leg pain or numbness. Low back pain improvement did not lead to ADL improvement. The short form 12 evaluation revealed the role/social component score in the SQ group to be significantly lower than that in the non-SQ group; no difference was found for the physical or mental components at follow-up.
Self-quarantine with conservative treatment effected short-term low back pain improvement in patients with LSS. However, no improvement in ADL was found. Self-quarantine had an unfavorable impact for health-related quality of life. The effect of self-quarantine can influence the treatment results of LSS.
Imaging findings of vertebral osteomyelitis caused by nontuberculous mycobacterial organisms
Authors: Yu Xiao Jing , Lin Yu Dong , Hu Peng , Zee Chi Shing , Ji Shu Juan , Zhou Fei 
Published: June 2022

Abstract

Rationale:
Prompt diagnosis of nontuberculous Mycobacterial (NTM) vertebral osteomyelitis is challenging, yet necessary to prevent serious morbidity and mortality. Here, we report 3 cases of vertebral osteomyelitis caused by NTM with imaging findings.

Patient concerns:
Case 1, a 58-year-old male patient, was admitted to our hospital because of the presence of a pulmonary mass for 6 months with cough and chest pain.
Case 2, a 50-year-old male patient, had fever and cough for 3 years and was diagnosed with tuberculosis. Antituberculosis treatment was ineffective, accompanied by lymph node enlargement and osteosclerotic changes involving vertebral bodies.
Case 3, a 66-year-old female patient, was admitted to our hospital with a mass on the top of her head for 1 month, which ruptured in the last 2 weeks.

Diagnoses:
Case 1: Sputum culture revealed Mycobacterium (M.) avium.

Case 2: The final culture results of the lymph node biopsy samples were M. intracellulare.

Case 3: Culture results of the sputum and pus from the abscess were M. gordon.
We found sclerosing lesions in the spine in all 3 NTM patients, which were easily misdiagnosed as metastatic tumors. In 2 cases, there was bone destruction in the ilium with limbic sclerosis, and there were abscesses near the ilium and in front of the sacrum in 1 case.

Interventions:
Case 1 was transferred to other specialist hospital.
Case 3 received surgical treatment for cranial lesions and abscess drainage.
Case 2 and case 3 received targeted treatment for nontuberculous mycobacteria in our hospital.

Outcome:
The condition of case 1 was unknown.
Recovery of case 2 was uneventful because of prolonged illness; however, inflammation gradually improved overall.
Case 3 had no recurrence following surgical treatment.

Lessons:
In our 3 cases of NTM vertebral osteomyelitis, bone lesions were often misdiagnosed as bony metastases because of the presence of multiple sclerotic lesions. Diagnoses were challenging and delayed. It is important to consider osteomyelitis by NTM when disseminated osteosclerosis with or without osteolytic bone lesions is present in conjunction with continuous inflammatory symptoms and signs. Moreover, an open biopsy of the lesion should be performed for a definitive diagnosis.
Diffuse midline glioma with H3-K27M mutation
Authors: Wang Yi-Hua , Gu Jian , Yu Juan-Han , Fu Lin , Li Qing-Chang , Qiu Xue-Shan , Wang En-Hua 
Published: June 2022

Abstract

Introduction:
Diffuse midline glioma with H3-K27M mutation is an infiltrative high-grade glioma, with predominantly astrocytic differentiation.

Patient concerns:
A 54-year-old Chinese woman presented with memory loss for a month and walking instability for 15 days.

Diagnosis:
Magnetic resonance imaging showed a mass shadow of isometric T1 and slightly longer T2 with mild mixed signals in the third ventricle of the suprasellar region. Histologically, the tumor was primarily sheet-like, with many “anucleate areas” composed of long and thin fibrillary processes of the bipolar cells, which formed “whorls.” The neoplastic nuclei were ovoid and moderate in size. The tumor showed brisk mitotic activity and vascular proliferation, with no necrosis. In addition to histone H3K27M mutation, immunohistochemical staining showed that the tumor cells were positive for glial fibrillary acidic protein, oligodendrocyte transcription factor 2, alpha-thalassemia/mental retardation syndrome X, S-100 and Vimentin. The “anucleate areas” were positive for glial fibrillary acidic protein and negative for synaptophysin. The Ki-67 proliferation index was about 10%. Molecular genetic analyses detected H3F3A K27M mutation, but no mutations in IDH1 or IDH2, TERT promoter mutations, MGMT promoter methylation, KIAA1549-BRAF fusion or deletion of 1p/19q were found. Based on these findings, the patient was diagnosed as diffuse midline glioma with H3-K27M mutation in the third ventricle, corresponding to WHO grade 4.

Interventions:
A craniotomy with total excision of the tumor was performed.

Outcomes:
After surgery, she was routinely treated with temozolomide for chemotherapy and synchronous radiotherapy. It has been 11 months now, and the patient is living well.

Conclusion:
This case report provides information on the microscopic morphological features of diffuse midline glioma with H3K27M mutation, which can help pathologists to make a definitive diagnosis of this tumor.
All in the Family
Authors: Fletcher Paula C. , Pollock Stephanie , Luymes Nicole , Bryden Pamela J. 
Published: June 2022

Purpose
The overarching purpose of this research was to examine the experiences of 1 family living with a child with Helsmoortel-Van Der Aa syndrome or activity-dependent neuroprotective protein (ADNP) syndrome.

Design
A retrospective qualitative design was used for this study.

Methods
Two primary caregivers for a 5-year-old child with ADNP syndrome completed background questionnaires to provide context for semistructured interviews. Each caregiver completed 2 interviews, approximately 2 months apart. Field notes, member checks, and triangulation were used to enhance the credibility of the study.

Results
This article summarizes the theme “All in the Family.” Having a child with ADNP syndrome affected all aspects of family life. Participants revealed that family dynamics were shaped by experiences stemming from their living arrangements and caregiving responsibilities.

Conclusions
Findings from this research highlighted the need for increased support for families faced with ADNP syndrome, as well as the role clinical nurse specialists can play in the lives of caregivers faced with such a rare diagnosis. Furthermore, given the paucity of ADNP syndrome information, the need for more research is warranted.
Data-driven nonlinear model reduction to spectral submanifolds in mechanical systems
Authors: Cenedese M. , Axås J. , Yang H. , Eriten M. , Haller G. 
Published: June 2022

While data-driven model reduction techniques are well-established for linearizable mechanical systems, general approaches to reducing nonlinearizable systems with multiple coexisting steady states have been unavailable. In this paper, we review such a data-driven nonlinear model reduction methodology based on spectral submanifolds. As input, this approach takes observations of unforced nonlinear oscillations to construct normal forms of the dynamics reduced to very low-dimensional invariant manifolds. These normal forms capture amplitude-dependent properties and are accurate enough to provide predictions for nonlinearizable system response under the additions of external forcing. We illustrate these results on examples from structural vibrations, featuring both synthetic and experimental data.
This article is part of the theme issue ‘Data-driven prediction in dynamical systems’.
GFINNs: GENERIC formalism informed neural networks for deterministic and stochastic dynamical systems
Authors: Zhang Zhen , Shin Yeonjong , Em Karniadakis George 
Published: June 2022

We propose the GENERIC formalism informed neural networks (GFINNs) that obey the symmetric degeneracy conditions of the GENERIC formalism. GFINNs comprise two modules, each of which contains two components. We model each component using a neural network whose architecture is designed to satisfy the required conditions. The component-wise architecture design provides flexible ways of leveraging available physics information into neural networks. We prove theoretically that GFINNs are sufficiently expressive to learn the underlying equations, hence establishing the universal approximation theorem. We demonstrate the performance of GFINNs in three simulation problems: gas containers exchanging heat and volume, thermoelastic double pendulum and the Langevin dynamics. In all the examples, GFINNs outperform existing methods, hence demonstrating good accuracy in predictions for both deterministic and stochastic systems.This article is part of the theme issue ‘Data-driven prediction in dynamical systems’.
Temporal dynamics of cholinergic activity in the septo-hippocampal system
Authors: Kopsick Jeffrey D. , Hartzell Kyle , Lazaro Hallie , Nambiar Pranav , Hasselmo Michael E. , Dannenberg Holger 
Published: June 2022

ABSTRACTCholinergic projection neurons in the medial septum and diagonal band of Broca are the major source of cholinergic modulation of hippocampal circuit functions that support neural coding of location and running speed. Changes in cholinergic modulation are known to correlate with changes in brain states, cognitive functions, and behavior. However, whether cholinergic modulation can change fast enough to serve as a potential speed signal in hippocampal and parahippocampal cortices and whether the temporal dynamics in such a signal depend on the presence of visual cues remain unknown. In this study, we use a fiber-photometric approach to quantify the temporal dynamics of cholinergic activity in freely moving mice as a function of the animal’s running speed and visual cues. We show that the population activity of cholinergic neurons in the medial septum and diagonal band of Broca changes fast enough to be aligned well with changes in the animal’s running speed and is strongly and linearly correlated to the logarithm of the animal’s running speed. Intriguingly, the cholinergic modulation remains strongly and linearly correlated to the speed of the animal’s neck movements during periods of stationary activity. Furthermore, we show that cholinergic modulation is unaltered during darkness. Lastly, we identify rearing, a discrete behavior where the mouse stands on its hindlimbs to scan the environment from an elevated perspective, is associated with higher cholinergic activity than expected from neck movements on the horizontal plane alone. Taken together, these data show that temporal dynamics in the cholinergic modulation of hippocampal circuits are fast enough to provide a potential running speed signal in real-time. Moreover, the data show that cholinergic modulation is primarily a function of the logarithm of the animal’s movement speed, both during locomotion and during stationary activity, with no significant interaction with visual inputs. These data advance our understanding of temporal dynamics in cholinergic modulation of hippocampal circuits and their functions in the context of neural coding of location and running speed.
Type construction in qualitative health research and its relevance in complementary and integrative medicine. Two studies about patients’ experiences with herbal medicine preparations
Authors: Canella Claudia , Wolfensberger Balz , Witt Claudia M. 
Published: June 2022

AbstractIn this article, we explore the method of type construction in qualitative health research in the field of complementary and integrative medicine. We applied type construction to research questions in phytotherapy about the everyday life experiences of patients using two specific herbal medicine preparations. In total, 21 patients participated in two consecutive qualitative studies. The collected data incorporated patient diaries, face-to-face interviews and pre- and posttreatment questionnaires. A type construction approach was applied for data analysis. In the Passiflora-study, three distinct biographical narrative types attributed to different experiences when using a specific ethanolic extract of Passiflora incarnata were identified. In the Angelica-study, four types of thematic dimensions of experiences with a specific ethanolic extract of Angelica archangelica were identified. Type construction in qualitative health research can contribute to evidence-based phytotherapy and complementary and integrative medicine in general by supporting shared decision making and individualized treatment approaches.
Coordination Between Embryo Growth and Trophoblast Migration Upon Implantation Delineates Mouse Embryogenesis
Authors: Bondarenko V. , Nikolaev M. , Kromm D. , Belousov R. , Wolny A. , Rezakhani S. , Hugger J. , Uhlmann V. , Hufnagel L. , Kreshuk A. , Ellenberg J. , Erzberger A. , Lutolf M. , Hiiragi T. 
Published: June 2022

SUMMARYImplantation marks a key transition in mammalian development. The role of embryo-uterus interaction in periimplantation development is however poorly understood due to inaccessibility in utero. Here, we develop an engineered uterus-like microenvironment to recapitulate mouse development ex vivo up to E5.25 and discover an essential role of integrin-mediated trophoblast adhesion to the uterine matrix. Light-sheet microscopy shows that trophoblast cells undergo Rac1-dependent collective migration upon implantation, displacing Reichert’s membrane and generating space for egg cylinder growth. The key role of coordination between trophoblast migration and embryo growth is verified by experimentally manipulating the migration velocity and geometry of the engineered uterus. Modeling the implanting embryo as a wetting droplet links the tissue shape dynamics to underlying changes in trophoblast adhesion and suggests that the corresponding tension release facilitates egg cylinder formation. Together, this study provides mechanisms by which dynamic embryo-uterus interactions play an essential role in peri-implantation development.
Decoding Imagined Musical Pitch from Human Scalp Electroencephalograms
Authors: Chung Miyoung , Kim Taehyung , Jeong Eunju , Chung Chun-Kee , Kim June-Sic , Kwon Oh-Sang , Kim Sung-Phil 
Published: June 2022

AbstractBrain-computer interfaces (BCIs) can restore the functions of communication and control in people with paralysis. In addition to the currently proven functions restored by BCIs, it would enrich life if one could regain a function of musical activity. However, it remains largely unknown whether it is feasible to decode imagined musical information directly from neural activity. Among various musical information, this study aimed to decode pitch information directly from scalp electroencephalography (EEG). Twenty healthy participants performed a task to imagine one of the seven musical pitches (C4 – B4) randomly. To find EEG features for pitch imagination, we took two approaches: exploring multi-band spectral power at individual channels (IC); and exploring power differences between bilaterally symmetric channels (DC). We classified these features into the seven pitch classes using various types of classifiers. The selected spectral power features revealed marked contrasts between left and right hemispheres, between low-, (<13 Hz) and high-frequency (> 13 Hz) bands, and between frontal and parietal areas. The best classification performance for seven pitches was obtained using the IC feature and SVM with the average accuracy of 35.68±7.47% (max. 50%) and the average information transfer rate (ITR) of 0.37±0.22 bits/sec. Yet, when we decoded a different number of classes (K = 2 ∼ 6) by grouping adjacent pitches, ITR was similar across K as well as between IC and DC features, suggesting efficiency of DC features. This study would be the first to demonstrate the feasibility of decoding imagined musical pitch directly from human EEG.