bluuebunny/crossref_metadata_2025 huggingface dataset:
Prediction of Prognosis of Tongue Squamous Cell Carcinoma Based on Clinical MR Imaging Data Modeling
Authors: Liu Junjie , Song Lina , Zhou Jingran , Yu Mengxing , Hu Yan , Zhang Junyan , Song Ping , Ye Yingjian , Wang Jinsong , Feng Guoyan , Guo Hongyan , An Peng
Published: October 2023

Objective: Tongue squamous cell carcinoma (TSCC) is one of the most common and poor prognosis head and neck tumors. The purpose of this study is to establish a model for predicting TSCC prognosis based on clinical and MR radiomics data and to develop a nomogram. Methods: A retrospective analysis was performed on the clinical and imaging data of 211 patients with pathologically confirmed TSCC who underwent radical surgery at xx hospital from February 2011 to January 2020. Patients were divided into a study group (recurrence, metastasis, and death, n = 76) and a control group (normal survival, n = 135) according to 1 to 6 years of follow-up. A training set and a test set were established based on a ratio of 7:3 and a time point. In the training set, 3 prediction models (clinical data model, imaging model, and combined model) were established based on the MR radiomics score (Radscore) combined with clinical features. The predictive performance of these models was compared using the Delong curve, and the clinical net benefit of the model was tested using the decision curve. Then, the external validation of the model was performed in the test set, and a nomogram for predicting TSCC prognosis was developed. Results: Univariate analysis confirmed that betel nut consumption, spicy hot pot or pickled food, unclean oral sex, drug use, platelet/lymphocyte ratio (PLR), neutrophil/lymphocyte ratio (NLR), depth of invasion (DOI), low differentiation, clinical stage, and Radscore were factors that affected TSCC prognosis ( P < .05). In the test set, the combined model based on these factors had the highest predictive performance for TSCC prognosis (area under curve (AUC) AUC: 0.870, 95% CI [0.761-0.942]), which was significantly higher than the clinical model (AUC: 0.730, 95% CI [0.602-0.835], P = .033) and imaging model (AUC: 0.765, 95% CI [0.640-0.863], P = .074). The decision curve also confirmed the higher clinical net benefit of the combined model, and these results were validated in the test set. The nomogram developed based on the combined model received good evaluation in clinical application. Conclusion: MR-LASSO extracted texture parameters can help improve the performance of TSCC prognosis models. The combined model and nomogram provide support for postoperative clinical treatment management of TSCC.
Connective tissue growth factor: Role in trabecular meshwork remodeling and intraocular pressure lowering
Authors: Hassan Mohammad Daniel Shafiq , Razali Norhafiza , Abu Bakar Amy Suzana , Abu Hanipah Noor Fahitah , Agarwal Renu
Published: October 2023

Connective tissue growth factor (CTGF) is a distinct signaling molecule modulating many physiological and pathophysiological processes. This protein is upregulated in numerous fibrotic diseases that involve extracellular matrix (ECM) remodeling. It mediates the downstream effects of transforming growth factor beta (TGF-β) and is regulated via TGF-β SMAD-dependent and SMAD-independent signaling routes. Targeting CTGF instead of its upstream regulator TGF-β avoids the consequences of interfering with the pleotropic effects of TGF-β. Both CTGF and its upstream mediator, TGF-β, have been linked with the pathophysiology of glaucomatous optic neuropathy due to their involvement in the regulation of ECM homeostasis. The excessive expression of these growth factors is associated with glaucoma pathogenesis via elevation of the intraocular pressure (IOP), the most important risk factor for glaucoma. The raised in the IOP is due to dysregulation of ECM turnover resulting in excessive ECM deposition at the site of aqueous humor outflow. It is therefore believed that CTGF could be a potential therapeutic target in glaucoma therapy. This review highlights the CTGF biology and structure, its regulation and signaling, its association with the pathophysiology of glaucoma, and its potential role as a therapeutic target in glaucoma management.
Teachers’ Perspectives on Challenges to Providing Work-Based Learning Experiences for Students with Extensive Support Needs
Authors: Brenner Hannah R. , Dymond Stacy K.
Published: October 2023

Work-based learning experiences (WBLEs) are an important part of vocational programming for students with extensive support needs (ESN); however, the development and implementation of these experiences can present challenges for special education teachers. The purpose of this qualitative study was to explore the challenges that special education teachers face when providing WBLEs for transition-age students with ESN. Nine special education teachers were identified through purposeful sampling methods. Participants met the following inclusion criteria: (a) teach students aged 14 to 22, (b) serve primarily students with ESN, (c) have 3 or more years of experience teaching 14-to 22-year-old students with ESN, and (d) be actively involved in planning and implementing WBLEs for 14-to 22-year-old students with ESN. Data were collected through semi-structured interviews and analyzed using thematic analysis. Findings from this study suggest that special education teachers face many diverse challenges when providing WBLEs to students with ESN, including establishing and sustaining appropriate WBLEs, securing high-quality staff, gaining support of important partners, and navigating logistics. Findings from this study have practical implications for supporting special education teachers who provide WBLEs for students with ESN. Findings also highlight the importance of improving attitudes and perceptions around employment outcomes for students with ESN.
Adductor Canal Block Combined With IPACK Block for Postoperative Analgesia After Total Knee Arthroplasty: A Retrospective Cohort Study
Authors: Zhao Chengcheng , Wang Qiuru , Cai Lijun , Chen Liyile , Kang Pengde
Published: October 2023

Background:

There is no consensus on whether adductor canal block (ACB) combined with infiltration between the popliteal artery and capsule of the posterior knee (IPACK) block can further increase analgesia and reduce opioid consumption after total knee arthroplasty (TKA) compared with ACB and periarticular infiltration analgesia (PIA).

Purpose:

This study aimed to evaluate the effectiveness of combining ACB and PACK block on analgesia and functional recovery following TKA.

Methods:

A retrospective cohort study was conducted involving 386 patients who underwent primary unilateral TKA at our institution from January 2020 to October 2022. Patients were divided into 3 groups and treated with PIA, ACB, or ACB combined with IPACK block, respectively. Primary outcomes were postoperative morphine consumption and visual analogue scale (VAS) pain scores. Secondary outcomes included functional recovery, evaluated by knee range of motion, quadriceps strength, daily mobilization distance, and postoperative length of stay. Other outcomes included incidence of complications.

Results:

Patients in the ACB + IPACK group had significantly less morphine consumption on postoperative day 1 and during hospitalization than patients in the PIA and ACB groups. Furthermore, the ACB + IPACK group had significantly lower VAS scores at rest and during motion at 6, 12, and 24 hours postoperatively (but not at other time points), better knee range of motion on postoperative days 1 and 2 (but not day 3), and a greater daily mobilization distance on postoperative day 1 (but not days 2 and 3). The ACB + IPACK group had significantly lower incidences of postoperative nausea and vomiting than the PIA and ACB groups.

Conclusion:

This retrospective cohort study suggests that a combination of ACB and IPACK block may have a greater effect than PIA or ACB alone on analgesia following TKA, while providing better functional recovery. Further study is warranted.
The impact of curved-tip propeller geometry on hovering drone performance for air quality monitoring
Authors: Chakchouk Mohamed Abdessamia , El Hami Abdelkhalak , Dahoo Pierre Richard , Lakhlifi Azzedine , Gafsi Wajih , Haddar Mohamed
Published: October 2023

The success or failure of a drone mission depend on several elements, including the drone’s mass and payload, the surrounding environment, the battery’s state, and the propulsion system’s performance. Several studies have been undertaken addressing the propeller performance of this final component, particularly for fixed-wing or quad copter drones with ducted propellers. However, the shape of propeller blades used on tiny civil drones has not drawn as much attention. In this research work, the performance characteristics of a 10 × 4.7-inch curved tip propeller were explored, with the Advanced Precision Composite drone propeller serving as a design reference. This study seeks an alternative to ducted propellers when mass or size limitations prevent their use. The Computational Fluid Dynamics model was confirmed by comparing simulation results to the experimental propeller data source established by the University of Illinois at Urbana-Champaign, starting with a standard type propeller and using thrust coefficient as the key performance indicator. Moreover, the data analysis for the bended tip propeller replicating the well-established model, revealed the benefits as well as the drawbacks of such propellers on the mission profile and the battery lifespan of a quad copter Unmanned Air Vehicle.
The irrepressible influence of vocal stereotypes on trust
Authors: Torre Ilaria , White Laurence , Goslin Jeremy , Knight Sarah
Published: October 2023

There is a reciprocal relationship between trust and vocal communication in human interactions. On one hand, a predisposition towards trust is necessary for communication to be meaningful and effective. On the other hand, we use vocal cues to signal our own trustworthiness and to infer it from the speech of others. Research on trustworthiness attributions to vocal characteristics is scarce and contradictory, however, being typically based on explicit judgements which may not predict actual trust-oriented behaviour. We use a game theory paradigm to examine the influence of speaker accent and prosody on trusting behaviour towards a simulated game partner, who responds either trustworthily or untrustworthily in an investment game. We found that speaking in a non-regional standard accent increases trust, as does relatively slow articulation rate. The effect of accent persists over time, despite the accumulation of clear evidence regarding the speaker’s level of trustworthiness in a negotiated interaction. Accents perceived as positive for trust can maintain this benefit even in the face of behavioural evidence of untrustworthiness.
Lexical tone perception and learning in older adults: A review and future directions
Authors: Kalaivanan Kastoori
Published: October 2023

While the literature is well represented in accounting for how aging influences segmental properties of speech, less is known about its influences on suprasegmental properties such as lexical tones. In addition, foreign language learning is increasingly endorsed as being a potential intervention to boost cognitive reserve and overall well-being in older adults. Empirical studies on young learners learning lexical tones are aplenty in comparison with older learners. Challenges in this domain for older learners might be different due to aging and other learner-internal factors. This review consolidates behavioural and neuroscientific research related to lexical tone, speech perception, factors characterising learner groups, and other variables that would influence lexical tone perception and learning in older adults. Factors commonly identified to influence tone learning in younger adult populations, such as musical experience, language background, and motivation in learning a new language, are discussed in relation to older learner groups and recommendations to boost lexical tone learning in older age are provided based on existing studies.
(Plat)formatted Creativity: Creating Music in the Age of Streaming
Authors: Kiberg Håvard
Published: October 2023

What impact does music streaming have on the production and aesthetics of popular music? Based on 15 qualitative interviews with Norwegian music creators, this article explores how music production is executed and interpreted under the paradigm of platformization. Following the concept of ‘creativity constraints’ – a concept highlighting the restraining and enabling possibilities inherent in the complex sets of constraints surrounding creative agency – this article proposes an analysis centered around three different views emphasizing the opportunities, the limitations, and the negotiations that are put into play throughout the processes of platformized music production. The article finds that the music creators continuously negotiate between these three different (partly opposing, partly overlapping) views when producing music, of which an exchange between emphasizing the democratizing and creatively liberating potential of platformization, and criticizing the commercializing and creatively standardizing effect platformization (and the attention economy) pose on contemporary music culture, constitutes the analysis discursive point of gravity. In this way, the article highlights various dialectics and contradictions concerning the ways in which popular music production develops under the paradigm of platformization.
Quality of life and healthcare resource use in patients with bladder pain syndrome: A survey of UK patients
Authors: Malde Sachin , Ho Michael , Griffin Jane
Published: October 2023

Objectives:

The main aim of this study is to characterise the humanistic burden of bladder pain syndrome (BPS) on patients within the United Kingdom and to estimate the key healthcare resource usage and cost of treating these patients.

Method:

An online survey was administered through two charities. Respondents were asked questions on BPS diagnosis, socio-demographics and health-related quality of life using the O’Leary-Sant Interstitial Cystitis Symptom Index (ICSI) and Problem Index (ICPI), the Pelvic Pain and Urinary/Frequency (PUF) and the EQ-5D questionnaires. Healthcare resource and therapy use, for the previous 6 months, were recorded and used to calculate economic burden.

Results:

A total of 252 patients completed the survey. Mean ICSI ICPI scores were 12.6 and 11.0, respectively, indicating severe symptoms. Mean PUF score was 21.2, indicating poor health status and a high number of BPS-related symptoms and problems. Mean EQ-5D utility score was 0.541. In the previous 6 months, 172 (68%) saw their general practitioner (GP) and 80 (32%) a primary care nurse, and 165 (65%) had one or more outpatient visits, due to their BPS.

Conclusion:

This survey adds to our current understanding of BPS in the United Kingdom, highlighting that patients with BPS have poor health-related quality of life and incur high resource use.

Level of evidence:

Not applicable
Exploring the Principal’s Role in Cross-Sector Partnerships: Sensemaking and Politics in a High-Performing Early College High School
Authors: Duncheon Julia C. , DeMatthews David E.
Published: October 2023

Secondary–postsecondary partnership reforms have grown in scale and importance throughout the past few decades as part of the national agenda to increase college access, equity, and completion. However, little research has examined the role of the principal in cross-sector partnerships. This qualitative case study explores how one nationally acclaimed principal at an award-winning early college high school made sense of the cross-sector context and negotiated with K–12 and higher education stakeholders to maximize college opportunity for low-income, Latinx, and first-generation students. Our analysis integrates sensemaking and micropolitical theory to identify leadership practices that facilitate effective cross-sector collaboration, with implications for K–12 leadership and cross-sector partnership reform.
A Qualitative Literature Search and Pilot Study of Online Support Groups for Patients With Dementia and Their Carers
Authors: Constantini Johanna , Bliem Harald R. , Crepaz Marc , Marksteiner Josef
Published: October 2023

The ever-growing group of people living with dementia (PLWD) and their relatives face great challenges. The Covid 19 pandemic has once again placed a particular challenge on this vulnerable group. What started a decade earlier with telephone-based support groups experienced a real push during the pandemic in the form of video-based self-help services. The aim of this qualitative literature search in MEDLINE, EMBASE, CINAHL, and PsycINFO with keywords related to online, support group, caregiver, and dementia was to collect the reported experiences by the end of 2022. Peer reviewed journal papers were included when published and written in English. After the joint decision of two reviewers, it was decided to only include studies that were published in Medline. The results of the literature search are compared with experiences of the participants in a presentation group that was transformed into an online group at the time of the COVID-19 pandemic via Zoom. In search yielded a total of 129 articles. 113 articles described different types of interventions, 30 of which had a randomized design. The qualitative literature search showed on the one hand a high interest in online support groups but on the other hand that the effectiveness and efficacy in randomized trials is much less clear. In addition, we investigated the assessments and experiences of the participants in a presentation group that was transformed into an online group at the time of the COVID-19 pandemic via Zoom. This study demonstrates that PLWD and carers on virtual group meetings can express significant emotive capacity and enhanced connectivity with one another despite a diagnosis of mild to moderate dementia. Further research on entry criteria, concerns about online support services in general and necessary support for use is essential to develop the time- and location-independent possibility of video-based online self-help into an important form of support for both PLWD and their caregivers as an additional support option independent of exceptional pandemic situations.
Evaluation of Clinical Competence and Job Satisfaction and Their Related Factors Among Emergency Nurses in Palestinian Hospitals
Authors: Salameh Basma , Amarneh Diya Basem Suleiman , Abdallah Jihad , Ayed Ahmad , Hammad Bahaaeddin M.
Published: October 2023

Introduction

Nurses are responsible for providing primary care to millions of patients, and emergency nurses serve on the frontline in providing care for mildly to severely critically ill patients.

Objectives

This study aims to assess and evaluate the clinical competence and its related factors among emergency nurses in Palestinian hospitals.

Methods

A cross-sectional study was conducted among 170 nurses working in the emergency units of hospitals in the West Bank, Palestine. Data collection utilized the Nurse Competence Scale, and the Job Satisfaction Scale.

Results

The results showed that only 33(19.4%) of the participants exhibited a good level of clinical competence, with none reaching the very good level. Among them, the highest proportion of good level 60 (35.3%) was in the helping role, while the lowest 38 (22.4%) was in ensuring quality. About 35% of nurses reported very low or low job satisfaction, while 58% had high or very high job satisfaction. Additionally, the results revealed a statistically significant relationship between clinical competence and job satisfaction ( P < 0.05). Both clinical competence and job satisfaction were positively correlated with age and experience.

Conclusion

The study found a significant relationship between demographic characteristics (e.g., education, experience, and marital status) and clinical competency among emergency nurses. Notably, less than half of the participants demonstrated good clinical competency, with none reaching a very good level. The highest scores were observed in the helping role domain, while the lowest were in the ensuring quality domain. Furthermore, clinical competence was found to be significantly associated with job satisfaction. Consequently, enhancing nurses’ clinical competency will lead to an improvement in the quality of patient care.
Relationship of arterial stiffness and baseline vascular burden with new lacunes and microbleeds: A longitudinal cohort study
Authors: Mena Luis , Mengual Juan José , García-Sánchez Sonia María , Avellaneda-Gómez Carla , Font Maria Àngels , Montull Caterina , Castrillo Laura , Blanch Pedro , Castellanos Pere , Lleixa Mercè , Martín-Baranera Montserrat , Armario Pedro , Gómez-Choco Manuel
Published: October 2023

Introduction:

Arterial stiffness may have a significant impact on the development of cerebral small vessel disease (cSVD).

Patients and methods:

We obtained pulse wave velocity (24-h PWV) by means of ambulatory blood pressure monitoring (ABPM) in patients with a recent small subcortical infarct (RSSI). Patients with known cardiac or arterial embolic sources were excluded. Lacunes, microbleeds, white matter hyperintensities and enlarged perivascular spaces at baseline were assessed in a brain MRI and included in a cSVD score. A follow-up MRI was obtained 2 years later and assessed for the appearance of new lacunes or microbleeds. We constructed both unadjusted and adjusted models, and subsequently selected the optimal models based on the area under the curve (AUC) of the predicted probabilities.

Results:

Ninety-two patients (mean age 67.04 years, 69.6% men) were evaluated and 25 had new lacunes or microbleeds during follow-up. There was a strong correlation between 24-h PWV and age ( r = 0.942, p < 0.001). cSVD was associated with new lacunes or microbleeds when adjusted by age, 24-h PWV, NT-proBNP and hypercholesterolemia (OR 2.453, CI95% 1.381–4.358). The models exhibiting the highest discrimination, as indicated by their area under the curve (AUC) values, were as follows: 1 (AUC 0.854) – Age, cSVD score, 24-h PWV, Hypercholesterolemia; 2 (AUC 0.852) – cSVD score, 24-h PWV, Hypercholesterolemia; and 3 (AUC 0.843) – Age, cSVD score, Hypercholesterolemia.

Conclusions:

cSVD score is a stronger predictor for cSVD progression than age or hemodynamic parameters in patients with a RSSI.
More Problems, More Pain: The Role of Chronic Life Stressors and Racial/Ethnic Identity on Chronic Pain Among Middle-Aged and Older Adults in the United States
Authors: Spector Antoinette L. , Quinn Katherine G. , Wang Inga , Gliedt Jordan A. , Fillingim Roger B. , Cruz-Almeida Yenisel
Published: October 2023

There is a high prevalence of chronic pain among middle-aged and older adults in the United States. Chronic life stressors have been shown to have detrimental consequences for myriad health conditions, including chronic pain. However, there is limited evidence on the types of chronic life stressors that affect middle-aged and older adults and how these stressors influence the chronic pain burden in this population. Moreover, the interaction between chronic life stressors and racial/ethnic identity remains poorly understood as it relates to chronic pain. The current analysis used the 2018 Health and Retirement Study to investigate relationships between chronic life stressors and odds to experience any chronic pain and high-impact chronic pain. Chronic life stressors were characterized, overall and by racial/ethnic identity, and the main and interaction effects were calculated to evaluate relationships between chronic life stressors, racial/ethnic identity, and odds of experiencing any chronic pain and high-impact chronic pain. Results indicate that in 2018, the most common chronic life stressor among middle-aged and older adults was dealing with their own health problems (68%), followed by dealing with the physical or emotional issues affecting a spouse or child (46%). Adjusted analyses showed that a higher total of chronic life stressors increased the odds of middle-aged and older adults experiencing any chronic pain and high-impact chronic pain. There were no significant interactions between the overall chronic life stress burden and racial/ethnic identity as a predictor of odds to experience any chronic pain or high-impact chronic pain, but significant interaction effects were found related to specific chronic life stressors. Findings underscore the significant impact of chronic life stressors on the chronic pain burden among middle-aged and older adults in the United States, which cut across racial/ethnic identity.
Cancer vaccine strategies for the treatment of diffusely infiltrating gliomas
Authors: Jucht Alexander , Dumont Sydney , Pooley Channing , Gonzalez Castro Luis Nicolas
Published: October 2023

Diffusely infiltrating gliomas – including glioblastoma (GBM), isocitrate dehydrogenase (IDH) mutant gliomas, and histone 3 (H3) altered gliomas – are primary brain tumors with an invariably fatal outcome. Despite advances in the understanding of their biology, standard, targeted and immune checkpoint inhibitor immunotherapies have proven ineffective in arresting their inexorable progression and associated morbidity and mortality. Recognizing the unique aspects of the immunogenicity of cancer cells, the last decade has seen the development and evaluation of vaccine-based therapies for the treatment of solid tumors, including gliomas. Here we review the current vaccine strategies for the treatment of GBM, IDH-mutant gliomas and diffuse midline glioma H3 K27M-altered. We discuss potential benefits and challenges of vaccine therapies in these specific patient populations.
Impact of Fatigue and Its Influencing Factors on Diabetes Self-Management in Adults With Type 2 Diabetes: A Structural Equation Modeling Analysis
Authors: Kuo Hsuan-Ju , García Alexandra A. , Huang Ya-Ching , Zuñiga Julie A. , Benner Aprile D. , Cuevas Heather , Fan Kang-Chih , Hsu Chih-Yao
Published: October 2023

Purpose:

The purposes of this study were to (1) examine the relationships between fatigue, its influencing factors, and diabetes self-management and (2) test the mediation effects of fatigue on the link between the influencing factors and diabetes self-management in adults with type 2 diabetes.

Methods:

This cross-sectional, correlational study was guided by the theory of unpleasant symptoms. Data were collected using structured questionnaires. Fatigue was measured by the Fatigue Symptom Inventory and the Multidimensional Fatigue Inventory. Diabetes self-management was measured by the Summary of Diabetes Self-Care Activities. From March to July 2021, a convenience sample of 150 participants was recruited from 2 diabetes outpatient clinics of a regional hospital in Taiwan. Data were analyzed using structural equation modeling.

Results:

A more recent diagnosis of diabetes, more depressive symptoms, and lower sleep quality were related to higher fatigue. Higher fatigue correlated with less performance in diabetes self-management. Fatigue mediated the relationship between depressive symptoms, sleep quality, and diabetes self-management.

Conclusions:

Fatigue had a mediating effect on the link between psychological influencing factors and diabetes self-management. Future development of fatigue interventions integrating depressive symptoms and sleep management will likely increase the performance of diabetes self-management and improve the health outcomes in adults with type 2 diabetes. The study tested the theory of unpleasant symptoms using empirical data and will assist in building theory-guided fatigue interventions to improve diabetes self-management in people with type 2 diabetes.
Outcomes of patients with blastoid and pleomorphic variant mantle cell lymphoma
Authors: Gerson James N. , Handorf Elizabeth , Villa Diego , Gerrie Alina S. , Chapani Parv , Li Shaoying , Medeiros L. Jeffrey , Wang Michael , Cohen Jonathon B. , Churnetski Michael , Hill Brian T. , Sawalha Yazeed , Hernandez-Ilizaliturri Francisco J. , Kothari Shalin , Vose Julie M. , Bast Martin , Fenske Timothy , Rao Gari Swapna Narayana , Maddocks Kami J. , Bond David , Bachanova Veronika , Kolla Bhaskar , Chavez Julio , Shah Bijal , Lansigan Frederick , Burns Timothy , Donovan Alexandra M. , Wagner-Johnston Nina , Messmer Marcus , Mehta Amitkumar , Anderson Jennifer K. , Reddy Nishitha , Kovach Alexandra E. , Landsburg Daniel J. , Glenn Martha , Inwards David J. , Ristow Kay , Karmali Reem , Kaplan Jason B. , Caimi Paolo F. , Rajguru Saurabh , Evens Andrew , Klein Andreas , Umyarova Elvira , Pulluri Bhargavi , Amengual Jennifer E. , Lue Jennifer K. , Diefenbach Catherine , Fisher Richard I. , Barta Stefan K.
Published: October 2023

Mantle cell lymphoma (MCL) is a B-cell non-Hodgkin lymphoma; data indicate that blastoid and pleomorphic variants have a poor prognosis. We report characteristics and outcomes of patients with blastoid/pleomorphic variants of MCL. We retrospectively studied adults with newly diagnosed MCL treated from 2000 to 2015. Primary objectives were to describe progression-free survival (PFS) and overall survival (OS). Secondary objectives included characterization of patient characteristics and treatments. Of the 1029 patients with MCL studied, a total of 207 neoplasms were blastoid or pleomorphic variants. Median follow-up period was 82 months (range, 0.1-174 months); median PFS was 38 months (95% confidence interval [CI], 28-66) and OS was 68 months (95% CI, 45-96). Factors associated with PFS were receipt of consolidative autologous hematopoietic transplantation (auto-HCT; hazard ratio [HR], 0.52; 95% CI, 0.31-0.80; P < .05), MCL International Prognostic Index (MIPI) intermediate (HR, 2.3; 95% CI, 1.2-4.3; P < .02) and high (HR, 3.8; 95% CI, 2.0-7.4; P < .01) scores, and complete response to induction (HR, 0.29 (95% CI, 0.17-0.51). Receipt of auto-HCT was not associated with OS (HR, 0.69; 95% CI, 0.41-1.16; P = .16) but was associated with MIPI intermediate (HR, 5.7; 95% CI, 2.5-13.2; P < .01) and high (HR, 10.8; 95% CI, 4.7-24.9; P < .01) scores. We report outcomes in a large cohort of patients with blastoid/pleomorphic variant MCL. For eligible patients, receipt of auto-HCT after induction was associated with improved PFS but not OS. Higher MIPI score and auto-HCT ineligibility were associated with worse survival.
The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing
Authors: Maierhofer Anna , Mehta Nikita , Chisholm Ryan A. , Hutter Stephan , Baer Constance , Nadarajah Niroshan , Pohlkamp Christian , Thompson Ella R. , James Paul A. , Kern Wolfgang , Haferlach Claudia , Meggendorfer Manja , Haferlach Torsten , Blombery Piers
Published: October 2023

Deleterious germ line variants in DDX41 are a common cause of genetic predisposition to hematologic malignancies, particularly myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML). Targeted next-generation sequencing was performed in a large cohort of sequentially recruited patients with myeloid malignancy, covering DDX41 as well as 30 other genes frequently mutated in myeloid malignancy. Whole genome transcriptome sequencing data was analyzed on a separate cohort of patients with a range of hematologic malignancies to investigate the spectrum of cancer predisposition. Altogether, 5737 patients with myeloid malignancies were studied, with 152 different DDX41 variants detected. Multiple novel variants were detected, including synonymous variants affecting splicing as demonstrated by RNA-sequencing. The presence of a somatic DDX41 variant was highly associated with DDX41 germ line variants in patients with MDS and AML, and we developed a statistical approach to incorporate the co-occurrence of a somatic DDX41 variant into germ line variant classification at a very strong level (as per the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines). Using this approach, the MDS cohort contained 108 of 2865 (3.8%) patients with germ line likely pathogenic/pathogenic (LP/P) variants, and the AML cohort 106 of 2157 (4.9%). DDX41 LP/P variants were markedly enriched in patients with AML and MDS compared with those in patients with myeloproliferative neoplasms, B-cell neoplasm, and T- or B-cell acute lymphoblastic leukemia. In summary, we have developed a framework to enhance DDX41 variant curation as well as highlighted the importance of assessment of all types of genomic variants (including synonymous and multiexon deletions) to fully detect the landscape of possible clinically relevant DDX41 variants.
Diabetes mellitus and hearing loss
Authors: Deng Yuxin , Chen Sen , Hu Jun
Published: October 2023

Diabetes mellitus (DM) is a major disease threatening human health and its incidence is increasing year on year. As a chronic complication of DM, hearing loss mostly occurs undetectably. However, the mechanism of this diabetes-related hearing loss (DRHL) remains unclear and there is no effective clinical treatment. Studies of animal or human pathology show that DM causes damage to the blood vessels, spiral ganglion neurons, afferent nerve fibers, the organ of Corti, and the stria vascularis of the inner ear. In recent years, more advances in pathological research have revealed the possible mechanism of DRHL. In addition, a large number of clinical studies suggest that the duration and severity of DM are closely related to the incidence and severity of DRHL. This review focuses on the relationship between DM and hearing loss. The clinical audiological characteristics of diabetic patients, risk factors for DRHL, typical pathology, and potential interventions of DRHL are summarized. This will help reveal the pathogenesis and intervention approaches for DRHL.
Patterns of enrichment and acceleration in evolutionary rates of promoters suggest a role of regulatory regions in cetacean gigantism
Authors: Silva Felipe A. , Picorelli Agnello C. R. , Veiga Giovanna S. , Nery Mariana F.
Published: October 2023

Background

Cetaceans (whales, porpoises, and dolphins) are a lineage of aquatic mammals from which some species became giants. Only recently, gigantism has been investigated from the molecular point of view. Studies focused mainly on coding regions, and no data on the influence of regulatory regions on gigantism in this group was available. Accordingly, we investigated the molecular evolution of non-coding regulatory regions of genes already described in the literature for association with size in mammals, focusing mainly on the promoter regions. For this, we used Ciiider and phyloP tools. Ciiider identifies significantly enriched transcription factor binding sites, and phyloP estimates the molecular evolution rate of the promoter.

Results

We found evidence of enrichment of transcription binding factors related to large body size, with distinct patterns between giant and non-giant cetaceans in the IGFBP7 and NCAPG promoters, in which repressive agents are present in small cetaceans and those that stimulate transcription, in giant cetaceans. In addition, we found evidence of acceleration in the IGF2, IGFBP2, IGFBP7, and ZFAT promoters.

Conclusion

Our results indicate that regulatory regions may also influence cetaceans’ body size, providing candidate genes for future research to understand the molecular basis of the largest living animals.
Genetic influences on alcohol flushing in East Asian populations
Authors: Cho Yoonsu , Lin Kuang , Lee Su-Hyun , Yu Canqing , Valle Dan Schmidt , Avery Daniel , Lv Jun , Jung Keumji , Li Liming , Smith George Davey , China Kadoorie Biobank Collaborativ  , Sun Dianjianyi , Chen Zhengming , Millwood Iona Y. , Hemani Gibran , Walters Robin G.
Published: October 2023

Background

Although it is known that variation in the aldehyde dehydrogenase 2 (ALDH2) gene family influences the East Asian alcohol flushing response, knowledge about other genetic variants that affect flushing symptoms is limited.

Methods

We performed a genome-wide association study meta-analysis and heritability analysis of alcohol flushing in 15,105 males of East Asian ancestry (Koreans and Chinese) to identify genetic associations with alcohol flushing. We also evaluated whether self-reported flushing can be used as an instrumental variable for alcohol intake.

Results

We identified variants in the region of ALDH2 strongly associated with alcohol flushing, replicating previous studies conducted in East Asian populations. Additionally, we identified variants in the alcohol dehydrogenase 1B (ADH1B) gene region associated with alcohol flushing. Several novel variants were identified after adjustment for the lead variants (ALDH2-rs671 and ADH1B-rs1229984), which need to be confirmed in larger studies. The estimated SNP-heritability on the liability scale was 13% (S.E. = 4%) for flushing, but the heritability estimate decreased to 6% (S.E. = 4%) when the effects of the lead variants were controlled for. Genetic instrumentation of higher alcohol intake using these variants recapitulated known associations of alcohol intake with hypertension. Using self-reported alcohol flushing as an instrument gave a similar association pattern of higher alcohol intake and cardiovascular disease-related traits (e.g. stroke).

Conclusion

This study confirms that ALDH2-rs671 and ADH1B-rs1229984 are associated with alcohol flushing in East Asian populations. Our findings also suggest that self-reported alcohol flushing can be used as an instrumental variable in future studies of alcohol consumption.
Exploring objective feature sets in constructing the evolution relationship of animal genome sequences
Authors: Li Xiaolong , Li Hong , Yang Zhenhua , Wu Yuan , Zhang Mengchuan
Published: October 2023

Background

Exploring evolution regularities of genome sequences and constructing more objective species evolution relationships at the genomic level are high-profile topics. Based on the evolution mechanism of genome sequences proposed in our previous research, we found that only the 8-mers containing CG or TA dinucleotides correlate directly with the evolution of genome sequences, and the relative frequency rather than the actual frequency of these 8-mers is more suitable to characterize the evolution of genome sequences.

Result

Therefore, two types of feature sets were obtained, they are the relative frequency sets of CG1 + CG2 8-mers and TA1 + TA2 8-mers. The evolution relationships of mammals and reptiles were constructed by the relative frequency set of CG1 + CG2 8-mers, and two types of evolution relationships of insects were constructed by the relative frequency sets of CG1 + CG2 8-mers and TA1 + TA2 8-mers respectively. Through comparison and analysis, we found that evolution relationships are consistent with the known conclusions. According to the evolution mechanism, we considered that the evolution relationship constructed by CG1 + CG2 8-mers reflects the evolution state of genome sequences in current time, and the evolution relationship constructed by TA1 + TA2 8-mers reflects the evolution state in the early stage.

Conclusion

Our study provides objective feature sets in constructing evolution relationships at the genomic level.
Association of home and community-based services and cognitive function of Chinese older adults: social participation as a mediator
Authors: Lin Wenyi , Yin Wanxia , Yuan Dinghuan
Published: October 2023

Background

This study makes an effort to examine the impact of home and community-based services on maintaining cognitive function and understand the mediating effect of social participation on the relationship of community services and older adults’ cognitive function in China.

Method

The empirical data comes from the Chinese Longitudinal Healthy Longevity Survey (CLHLS). A total of 38,582 (person-time) respondents were gathered for this study. The two-way fixed effects regression model is used to estimate the associations between independent variables, mediating variables and cognitive ability after controlling for socio-demographic, family responsibility, and time variables.

Result

This study has confirmed that participating in daily and social activities is associated with the cognitive functions of Chinese older adults. Social participation can stimulate cognition. Active participation in outdoor activities, doing housework or taking care of kids, daily playing cards or mah-jong, reading books and newspapers, watching TV, and listening to the radio can significantly promote the cognitive ability of older adults. In addition, the findings have indicated the importance of community services for older adults. This study shows personal daily care services, legal aid services, health education services, as well as dealing with family and neighborhood disputes have a positive effect on maintaining older adults’ cognitive functions. Meanwhile, the provision of door-to-door medical services hurts their cognitive functions. This study also illustrates that community-based services can increase the level of older adults’ social participation, and then enhance their level of cognitive function.

Conclusion

This study can inform service provision agencies to develop targeted programs to support older adults’ continued engagement.
Intratumoral and peritumoral radiomics based on contrast-enhanced MRI for preoperatively predicting treatment response of transarterial chemoembolization in hepatocellular carcinoma
Authors: Zhao Ying , Zhang Jian , Wang Nan , Xu Qihao , Liu Yuhui , Liu Jinghong , Zhang Qinhe , Zhang Xinyuan , Chen Anliang , Chen Lihua , Sheng Liuji , Song Qingwei , Wang Feng , Guo Yan , Liu Ailian
Published: October 2023

Background

Noninvasive and precise methods to estimate treatment response and identify hepatocellular carcinoma (HCC) patients who could benefit from transarterial chemoembolization (TACE) are urgently required. The present study aimed to investigate the ability of intratumoral and peritumoral radiomics based on contrast-enhanced magnetic resonance imaging (CE-MRI) to preoperatively predict tumor response to TACE in HCC patients.

Methods

A total of 138 patients with HCC who received TACE were retrospectively included and randomly divided into training and validation cohorts at a ratio of 7:3. Total 1206 radiomics features were extracted from arterial, venous, and delayed phases images. The inter- and intraclass correlation coefficients, the spearman’s rank correlation test, and the gradient boosting decision tree algorithm were used for radiomics feature selection. Radiomics models on intratumoral region (TR) and peritumoral region (PTR) (3 mm, 5 mm, and 10 mm) were established using logistic regression. Three integrated radiomics models, including intratumoral and peritumoral region (T-PTR) (3 mm), T-PTR (5 mm), and T-PTR (10 mm) models, were constructed using TR and PTR radiomics scores. A clinical-radiological model and a combined model incorporating the optimal radiomics score and selected clinical-radiological predictors were constructed, and the combined model was presented as a nomogram. The discrimination, calibration, and clinical utilities were evaluated by receiver operating characteristic curve, calibration curve, and decision curve analysis, respectively.

Results

The T-PTR radiomics models performed better than the TR and PTR models, and the T-PTR (3 mm) radiomics model demonstrated preferable performance with the AUCs of 0.884 (95%CI, 0.821–0.936) and 0.911 (95%CI, 0.825–0.975) in both training and validation cohorts. The T-PTR (3 mm) radiomics score, alkaline phosphatase, tumor size, and satellite nodule were fused to construct a combined nomogram. The combined nomogram [AUC: 0.910 (95%CI, 0.854–0.958) and 0.918 (95%CI, 0.831–0.986)] outperformed the clinical-radiological model [AUC: 0.789 (95%CI, 0.709–0.863) and 0.782 (95%CI, 0.660–0.902)] in the both cohorts and achieved good calibration capability and clinical utility.

Conclusions

CE-MRI-based intratumoral and peritumoral radiomics approach can provide an effective tool for the precise and individualized estimation of treatment response for HCC patients treated with TACE.
Prognostic significance of HLA-G in patients with colorectal cancer: a meta-analysis and bioinformatics analysis
Authors: Zhang Yingying , He Siying , Yu Lisha , Shi Chao , Zhang Yanyue , Tang Shiyue
Published: October 2023

Purpose

Human leukocyte antigen-G (HLA-G) has been reported to be aberrantly expressed in colorectal cancer (CRC); however, its prognostic value remains controversial. Hence, our meta-analysis aims to assess the prognostic value of HLA-G in CRC patients based on published literature and The Cancer Genome Atlas (TCGA) datasets.

Methods

A systematic search was conducted on relevant studies retrieved from four electronic databases including PubMed, Embase, Web of Science and Cochrane Library. Hazard ratios (HRs) with 95% confidence intervals (CIs) were recorded to be applied as effective values. Fixed-effects models or random-effects models were applied on the basis of the value of heterogeneity (I2). Publication bias was analyzed by Begg’s and Egger’s tests. In addition, the results were validated by using TCGA datasets.

Results

Thirteen studies comprising 3896 patients were incorporated into this meta-analysis. The pooled results showed that HLA-G expression was significantly associated with poor overall survival (OS) in both the univariate analysis (HR = 1.44, 95% CI: 1.14–1.83, P = 0.002) and the multivariate analysis (HR = 1.55, 95% CI: 1.23–1.95, P < 0.001). Nevertheless, the expression of HLA-G is not related to age, sex, tumor type, tumor differentiation, TNM stage, or distant metastasis but lymph node metastasis. Notably, the prognosis of colorectal cancer was not consistent with the analysis result from TCGA data.

Conclusion

HLA-G expression was significantly related to poor OS in CRC according to the results of our meta-analysis. However, we found that the prognostic significance was inconsistent with our results according to the TCGA data in CRC. Hence, more research is still needed to further illustrate the prognostic role of HLA-G in CRC.
Influence on therapeutic outcome of platelet count at diagnosis in patients with de novo non-APL acute myeloid leukemia
Authors: Zhang Yujiao , Wu Quan , Yuan Baoyi , Huang Yun , Jiang Ling , Liu Fang , Yan Ping , Jiang Yongshuai , Ye Jieyu , Jiang Xuejie
Published: October 2023

Background

Platelet (PLT) count at diagnosis plays an important role in cancer development and progression in solid tumors. However, it remains controversial whether PLT count at diagnosis influences therapeutic outcome in patients with non-acute promyelocytic leukemia (APL) acute myeloid leukemia (AML).

Methods

This study analyzed the relationship between PLT count at diagnosis and genetic mutations in a cohort of 330 newly diagnosed non-APL AML patients. The impact of PLT count on complete remission, minimal residual disease status and relapse-free survival (RFS) were evaluated after chemotherapy or allogeneic hematopoietic stem cell transplantation (allo-HSCT).

Results

Our studies showed that patients with DNMT3A mutations have a higher PLT count at diagnosis, while patients with CEBPA biallelic mutations or t(8;21)(q22; q22) translocation had lower PLT count at diagnosis. Furthermore, non-APL AML patients with high platelet count (> 65 × 109/L) at diagnosis had worse response to induction chemotherapy and RFS than those with low PLT count. In addition, allo-HSCT could not absolutely attenuated the negative impact of high PLT count on the survival of non-APL AML patients.

Conclusion

PLT count at diagnosis has a predictive value for therapeutic outcome for non-APL AML patients.