bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects
Authors: Truong Brittany T. , Shull Lomeli C. , Zepeda Bryan J. , Lencer Ezra , Artinger Kristin B. 
Published: March 2024

AbstractBackgroundSplit hand/foot malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, PRDM1, that are associated with SHFM phenotypes. One individual also presented with a high arch palate. Studies in vertebrates indicate that PRDM1 is important for development of the skull; however, prior to our study, human variants in PRDM1 had not been associated with craniofacial anomalies.MethodsUsing transient mRNA overexpression assays in prdm1a−/− mutant zebrafish, we tested whether the PRDM1 SHFM variants were functional and could lead to a rescue of the craniofacial defects observed in prdm1a−/− mutants. We also mined previously published CUT&RUN and RNA‐seq datasets that sorted EGFP‐positive cells from a Tg(Mmu:Prx1‐EGFP) transgenic line that labels the pectoral fin, pharyngeal arches, and dorsal part of the head to examine Prdm1a binding and the effect of Prdm1a loss on craniofacial genes.ResultsThe prdm1a−/− mutants exhibit craniofacial defects including a hypoplastic neurocranium, a loss of posterior ceratobranchial arches, a shorter palatoquadrate, and an inverted ceratohyal. Injection of wildtype (WT) hPRDM1 in prdm1a−/− mutants partially rescues the palatoquadrate phenotype. However, injection of each of the three SHFM variants fails to rescue this skeletal defect. Loss of prdm1a leads to a decreased expression of important craniofacial genes by RNA‐seq, including emilin3a, confirmed by hybridization chain reaction expression. Other genes including dlx5a/dlx6a, hand2, sox9b, col2a1a, and hoxb genes are also reduced. Validation by real‐time quantitative PCR in the anterior half of zebrafish embryos failed to confirm the expression changes suggesting that the differences are enriched in prx1 expressing cells.ConclusionThese data suggest that the three SHFM variants are likely not functional and may be associated with the craniofacial defects observed in the humans. Finally, they demonstrate how Prdm1a can directly bind and regulate genes involved in craniofacial development.
Enhanced clinical outcomes with radiotherapy in diagnostically challenging intracranial plasmacytomas: Analysis of 190 cases
Authors: Feng Yuan , Zhang Zongpu , Qiu Fufang , Yang Zixiao , Xiong Ji , Zhu Wei , Wan Fangzhu , Chen Bobin , Wang Jiguang , Zhang Yi , Hua Wei 
Published: March 2024

AbstractBackgroundIntracranial plasmacytomas are rare tumors arising from plasma cells with approximately half of the cases progressing to multiple myeloma (MM). However, there is a lack of comprehensive clinical cohort analysis on the clinical and pathological features, progression, and outcomes of intracranial plasmacytomas.MethodsA retrospective analysis of 190 cases was conducted, combining data from 38 cases in a single institution and 152 cases from the literature. Patient demographics, clinical presentations, tumor locations, imaging features, surgical treatments, and follow‐up outcomes were collected and analyzed. Survival analysis and Cox regression analysis were performed to identify prognostic factors.ResultsA total of 190 intracranial plasmacytoma patients with an average age of 55.4 years were included in the study. The preoperative misdiagnosis ratio was high at 55.3%, and 59.7% of the tumors affected the calvaria convexity, compared to 40.3% located at the skull base. Resection and biopsy were achieved in 72.4% and 27.6% patients, respectively. Among them, 34.2% (65/190) of patients were initially diagnosed with MM with intracranial plasmacytoma as their first presentation (MM‐IPFP), while 63.2% (120/190) of patients were diagnosed with solitary intracranial plasmacytoma (SIP), including 61 extramedullary plasmacytomas and 59 solitary bone plasmacytomas. In the SIP group, 22.4% (24/107) of patients experienced disease progression leading to the development of MM during a median follow‐up time of 42.6 months (range 1–230 months). Multivariate analysis unveiled that radiotherapy (HR, 0.05; 95% CI, 0.00–0.87; p = 0.04), not surgery, was a protective prognostic factor for overall survival in MM‐IPFP patients. Comparison between the SIP progression group and non‐progression group revealed a significant difference of Ki‐67 index (non‐progression vs. SIP progression, 8.82% ± 7.03 vs. 16.5% ± 10.5, p < 0.05). AUC analysis determined that a cutoff value of 9.0% was the best predictor of SIP progression, with an area under the curve of 0.712.ConclusionsThis retrospective clinical analysis highlights the potential role of radiotherapy, rather than surgical resection, in improving the outcomes of intracranial plasmacytoma. Additionally, the Ki‐67 index is identified as a valuable marker for predicting disease progression. This would provide some evidence for the paradigm of diagnosis and treatment modalities for intracranial plasmacytomas from the large cohort.
CD2AP is a potential prognostic biomarker of renal clear cell carcinoma
Authors: Chen Can , Xu Jia , Zhang Jie‐Xin , Chen Lin‐Yuan , Wei Yu‐Ang , Zhang Wei‐Ming , Shao Peng‐Fei , Xu Hua‐Guo 
Published: March 2024

AbstractBackgroundCD2‐associated protein (CD2AP) is a podocyte‐associated gene and its reduced expression is associated with the development of proteinuria and glomerulosclerosis. However, few studies have focused on the correlation between the expression and prognosis of CD2AP in renal clear cell carcinoma (ccRCC). Therefore, we aimed to assess the regulation of CD2AP expression and prognostic value in ccRCC.MethodsMultiple databases were employed to examine the expression of CD2AP in ccRCC. RT‐qPCR, Western Blot and immunohistochemistry were used to validate CD2AP expression in different cell lines and tissue samples. Kaplan–Meier analysis and ROC curve analysis were performed on the predictive prognostic performance of CD2AP. COX regression was used to construct CD2AP‐related prognostic models. The TIMER and TISIDB databases were used to analyze the correlation of tumor‐infiltrating immune cells with gene expression, mutations, somatic copy number variation, and immune molecules. Mass spectrometry was used to detect methylation status of the promoter CpG site of CD2AP in multiple cells.ResultsWe found that CD2AP expression was downregulated in ccRCC and its lower expression level was correlation with worse patient prognosis, higher tumor stage and grade and distant metastasis through analysis of databases, ccRCC cell lines and clinical tissue samples. Moreover, database and mass spectrometry techniques identified and validated cg12968598 hypermethylation as one of the key reasons for the downregulation of CD2AP expression. CD2AP expression was also associated with macrophage and neutrophil infiltration.ConclusionsTaken together, our results suggest that CD2AP can be used as a diagnostic and prognostic biomarker in ccRCC patients and that DNA hypermethylation plays an important role in reducing CD2AP expression.
Prescribing pre‐ and post‐operative physical activity interventions for people undergoing breast cancer surgery: A qualitative systematic review
Authors: Howe Lauren , Husband Andy , Robinson‐Barella Anna 
Published: March 2024

AbstractIntroductionUndertaking physical activity, pre‐ and post‐operatively, can benefit recovery time and improve post‐surgical outcomes. One cohort of patients that have reported these benefits are those undergoing surgery for breast cancer. Yet, what remains unclear is the level to which physical activity interventions are implemented into standard surgical care for patients with breast cancer.AimsThis systematic review aimed to examine existing qualitative evidence focusing on pre‐ and post‐operative physical activity interventions to better understand the benefits and shortcomings of physical activity within the surgical journey.MethodsA systematic literature search was undertaken in November 2022, across five databases: MEDLINE, PsycINFO, Embase, CINAHL, and Scopus. Qualitative studies involving people with breast cancer who had undertaken a physical activity intervention, either pre‐ and/or post‐operatively, were included for analysis. The review was registered on PROSPERO: CRD42022372466 and performed according to PRISMA guidelines. The Critical Appraisal Skills Programme qualitative study checklist was used to assess study quality.ResultsFourteen studies were included, comprising the perspectives of 418 people receiving surgery for breast cancer. One study implemented preoperative physical activity interventions; the remaining studies focused on post‐operative interventions. A narrative systematic review was undertaken due to heterogeneity in reported results. Four themes were developed by thematic analysis, centring on: (1) factors promoting engagement with physical activity interventions; (2) factors preventing engagement with physical activity interventions; (3) the impact of pre‐ and post‐operative interventions on physical and psychological health; and (4) participant recommendations for pre‐ and post‐operative interventions.ConclusionPre‐ and post‐operative physical activity interventions were well‐accepted. Patients recognised factors which promoted or prevented engagement with interventions, as well as pre‐ and post‐operative physical and psychological benefits that arose as a result. Evidence based co‐design studies may further inform successful implementation of prescribed physical activity into standard care for surgical breast cancer patients.
High Cell Density Cultivation Combined with high Specific Enzyme Activity: Cultivation Protocol for the Production of an Amine Transaminase from Bacillus megaterium in E. coli
Authors: Rothkranz Berit , Rieb Matthias , Unrau Evelin Lisa , Frindi‐Wosch Ilona , Hemmerich Johannes , Sehl Torsten , Rother Dörte 
Published: March 2024

AbstractHigh cell density cultivation is an established method for the production of various industrially important products such as recombinant proteins. However, these protocols are not always suitable for biocatalytic processes as the focus often lies on biomass production rather than high specific activities of the enzyme inside the cells. In contrast, a range of shake flask protocols are well known with high specific activities but rather low cell densities. To overcome this gap, we established a tailor‐made fed‐batch protocol combining both aspects: high cell density and high specific activities of heterologously produced enzyme. Using the example of an industrially relevant amine transaminase from Bacillus megaterium, we describe a strategy to optimize the cultivation yield based on the feed rate, IPTG concentration, and post‐induction temperature. By adjusting these key parameters, we were able to increase the specific activity by 2.6‐fold and the wet cell weight by even 17‐fold compared to shake flasks. Finally, we were able to verify our established protocol by transferring it to another experimenter. With that, our optimization strategy can serve as a template for the production of high titers of heterologously produced, active enzymes and might enable the availability of these catalysts for upscaling biocatalytic processes.
Measuring Ligand‐bound Protein Complexes with Proximity Labeling: A Practical Guide
Authors: Goyal Pavitra , Tao Andrew J. , Mumby Elizabeth J. , English Justin G. , Ferguson Fleur M. 
Published: March 2024

AbstractIdentifying the drug‐target interactome of small molecule therapeutics is essential for understanding the full pharmacological effects of a compound. These therapies often induce changes within the cellular proteome, leading to unexpected consequences such as changes in the targets complexation state or off‐target interactions between the compound and additional proteins. Currently, unbiased target‐ID approaches are being used to embark on this task. Here we provide an overview of the strengths and limitations of these methods, and a practical step‐by‐step protocol for using the BioTAC system to assist with drug target and interactome ID.
Para mi gente: Community responsive civic practices at Hispanic Serving Community Colleges
Authors: Alcantar Cynthia Maribel , Hernandez Edwin , Reyes Alicia Nani , Jauregui‐Gomez Melissa , Kim Victoria 
Published: March 2024

AbstractThis article presents research on the role of educators at a Hispanic Serving community college in the civic development—the capacity to be socially and/or politically civically engaged—of Latinx students. The article presents educators’ perceptions of, and pedagogies used to promote, the civic development of Latinx students and communities at a federally designated Hispanic Serving Institution (HSI) community college. The community college serves a region that has historically disenfranchised, excluded, and dismissed Latinx and other immigrant groups from fully incorporating into the civic fabric of the region. We present findings from interviews with educators (i.e., faculty, counselors, administrators, and staff), and document and website analysis to undercover the pedagogies that support the civic development of Latinx students and communities. The need to study the connection between HSIs, community colleges, and civic engagement is imperative because these colleges can serve la gente de la comunidad by promoting service to communities and developing leaders to evoke social and community change. This study contributes to the understanding of the critical role of Minority‐Serving Institution (MSI) community colleges and presents practical approaches to promoting the civic development of underserved Latinx communities.
Acute pancreatitis secondary to moderate hypertriglyceridemia: A case report
Authors: Nepali Anil , Kharga Satyam , Jayan Malavika , Adhikari Prakriti , Shah Amit , Sanker Vivek 
Published: March 2024

Key Clinical MessageIt is crucial to remain vigilant about acute pancreatitis, even in cases with moderately elevated triglycerides. Triglycerides as a cause of acute pancreatitis must be considered even in the absence of other risk factors.AbstractHypertriglyceridemia is one of the most common causes of acute pancreatitis (AP), with triglyceride levels greater than 1000 mg/dL being an established risk factor for AP. Cases of acute pancreatitis due to triglyceride levels less than 1000 mg/dL have rarely been reported in the literature. We report a case of a 26‐year‐old para‐2, living‐2 (P2L2) female who presented with epigastric pain and fever, with a serum triglyceride level of 579 mg/dL. A diagnosis of acute pancreatitis was made based on the clinical features and radiological findings, despite no identifiable risk factors. Hypertriglyceridemia was managed with no complications of acute pancreatitis during treatment.
Beyond the obvious: A case presentation on the misdiagnosis of posterior femoral cutaneous nerve entrapment as semitendinosus muscle tear
Authors: Pourahmadi Mohammadreza , Yaseri Gohari Alireza , Ghorbani Duqaei Mohammad Mahdi 
Published: March 2024

Key Clinical MessageTo underscore the importance of evaluating the entrapment of the posterior femoral cutaneous nerve (PFCN) in patients exhibiting symptoms in the posterior thigh region. A 42‐year‐old male dentist, initially diagnosed with a semitendinosus muscle tear and persistent pain and tingling in the posterior thigh, sought treatment at our outpatient clinic. Despite unsuccessful physiotherapy, a comprehensive evaluation revealed an unusual entrapment of the PFCN between the sacrotuberous ligament and the semitendinosus muscle stump. The patient was subjected to a series of specialized therapeutic interventions, including soft tissue release, kinesiology taping, and lifestyle modifications. The patient's symptoms, including pain and tingling, were completely resolved, enabling him to sit on a stool for extended periods without discomfort. This case presentation emphasizes the need for physical therapists to consider the possibility of PFCN entrapment in patients experiencing pain and tingling in the posterior thigh. These symptoms can be easily mistaken for conditions such as sciatica or a hamstring muscle tear.
Unilateral tongue atrophy as the initial clinical manifestation in a patient with prostate cancer
Authors: Zahran Mohammed , Larios Henry , Rosales Victor , Coulson Adrian 
Published: March 2024

Key Clinical MessageUnilateral tongue atrophy can be a rare and crucial early indicator of metastatic prostate cancer, highlighting the need for vigilant monitoring in clinical assessments. This case underscores the importance of considering cranial nerve involvement, especially the twelfth, for timely intervention and comprehensive patient care.AbstractProstate cancer, ranking among the most prevalent cancers, often manifests with skeletal metastases. Cranial nerve involvement, particularly the twelfth cranial nerve (XII), as an initial presentation is exceptionally rare. This case report outlines a unique instance of unilateral tongue atrophy as the primary clinical manifestation in a patient diagnosed with metastatic prostate cancer. A 54‐year‐old man presented with dysarthria and progressive weakness, later revealing signs of hypoglossal nerve paralysis, unilateral tongue atrophy, and skeletal metastases involving the base of the skull. Imaging studies, including CT and MRI, confirmed diffuse lytic lesions and cranial nerve entrapment. Further investigations identified elevated PSA levels, confirming acinar prostate adenocarcinoma. The patient underwent hormone therapy due to the poor prognosis. Prostate cancer's skeletal metastases are well‐documented, but cranial nerve involvement remains rare, particularly with isolated XII nerve manifestation. The discussion emphasizes the diagnostic challenges, imaging techniques' roles, and the impact on prognosis and quality of life. This case underscores the rarity of unilateral XII nerve involvement as the initial presentation of metastatic prostate cancer. Clinicians should consider this manifestation, especially in men over 40, warranting a thorough diagnostic approach, including PSA measurement and referral for appropriate oncological and urological interventions.
Paraneoplastic movement disorder due to suspected metastatic Leiomyosarcoma of tongue: A case report
Authors: Khanal Pradeep , Khanal Pitambar , Paudel Sandip , Pokhrel Ashbita , Chapagain Subodh 
Published: March 2024

Key Clinical MessageParaneoplastic movement disorders, though rare, can be the initial symptoms of malignancies like leiomyosarcoma, as in our case. Clinicians should keep malignancies in their differential diagnosis in cases of unexplained movement abnormalities.
Iliacus hematoma causing late femoral nerve palsy
Authors: Al Fırat , Köroglu Muhammed , Özdeş Hüseyin Utku , Aslantürk Okan 
Published: March 2024

Key Clinical MessageFemoral nerve palsy is rare and may progress insidiously, leading to late clinical presentation. Identifying the underlying cause is very important for treatment. An iliacus hematoma causing nerve palsy is perhaps the most innocent etiology. However, this hematoma sometimes causes only abdominal pain and may even be misdiagnosed as a late intra‐abdominal pathology.
Optimal Oriented External Electric Fields to Trigger a Barrierless Oxaphosphetane Ring Opening Step of the Wittig Reaction
Authors: Bofill Josep Maria , Severi Marco , Quapp Wolfgang , Ribas‐Ariño Jordi , de P. R. Moreira Ibério , Albareda Guillermo 
Published: March 2024

AbstractThe Wittig reaction is one of the most important processes in organic chemistry for the asymmetric synthesis of olefinic compounds. In view of the increasingly acknowledged potentiality of the electric fields in promoting reactions, here we will consider the effect of the oriented external electric field (OEEF) on the second step of Wittig reaction (i. e. the ring opening oxaphosphetane) in a model system for non‐stabilized ylides. In particular, we have determined the optimal direction and strength of the electric field that should be applied to annihilate the reaction barrier of the ring opening through the polarizable molecular electric dipole (PMED) model that we have recently developed. We conclude that the application of the optimal external electric field for the oxaphosphetane ring opening favours a Bestmann‐like mechanism.
Mechanistic Insights into the Discharge Processes of Li−CO2 Batteries
Authors: Zhang Xinxin , Luo Tingting , Wang Yu , Li Yafei 
Published: March 2024

AbstractLi−CO2 batteries facilitate renewable energy storage in a cost‐effective, eco‐friendly manner. However, an inadequate understanding of their reaction mechanism severely impedes their development. Here we outline recent mechanistic advances in the discharge processes of Li−CO2 batteries, particularly in terms of the theoretical aspect. First, the vital factors affecting the formation of discharge intermediates are highlighted, and a surface lithiation mechanism predominantly applicable to catalysts with weak CO2 adsorption is proposed. Subsequently, the modeling of the chemical potential of Li++e−, which is crucial for the evaluation of the theoretical limiting voltage, is detailed. Finally, challenges and future directions pertaining to the further development of Li−CO2 are discussed. In essence, this concept article seeks to inspire future experimental and theoretical studies in advancing the development of Li−CO2 electrochemical technology.
Azulene‐Containing Bis(squaraine) Dyes: Design, Synthesis and Aggregation Behaviors
Authors: Yao Yiming , Sun Xuan , Zhang Zuyuan , Yu Haoyun , Yang Xiaodi , Ding Dan , Gao Xike 
Published: March 2024

AbstractThe relationship among chemical structure, physicochemical property and aggregation behavior of organic functional material is an important research topic. Here, we designed and synthesized three bis(squaraine) dyes BSQ1, BSQ2 and BSQ3 through the combination of two kinds of unsymmetrical azulenyl squaraine monomers. Their physicochemical properties were investigated in both molecular and aggregate states. Generally, BSQ1 displayed different assembly behaviors from BSQ2 and BSQ3. Upon fabrication into nanoparticles, BSQ1 tend to form J‐aggregates while BSQ2 and BSQ3 tend to form H‐aggregates in aqueous medium. When in the form of thin films, three bis(squaraine) dyes all adopted J‐aggregation packing modes while only BSQ1 presented the most significant rearrangement of aggregate structures as well as the improvement in the carrier mobilities upon thermal annealing. Our research highlights the discrepancy of aggregation behaviors originating from the molecular structure and surrounding circumstances, providing guidance for the molecular design and functional applications of squaraines.
Trends and patterns in ESG research: A bibliometric odyssey and research agenda
Authors: De Falco Salvatore Esposito , Montera Raffaella , Leo Sabrina , Laviola Francesco , Vito Pietro , Sardanelli Domenico , Basile Gianpaolo , Nevi Giulia , Alaia Raffaele 
Published: March 2024

AbstractThe paper provides a detailed analysis of the ESG literature with the aim of bringing clarity to this area of research and proposing a research agenda. An overview of the development of the literature on ESG pillars is offered through a review of 903 peer‐reviewed articles. The paper identifies four thematic clusters: impacts of ESG disclosure and practices, sustainability, accounting, and responsible investments. The main research streams and sub‐streams for each cluster are discussed, highlighting the most frequent theoretical perspectives and methodologies. Furthermore, the evolution of ESG research across time is delineated. The paper also identifies future research directions within each cluster to advance knowledge, and proposes an integrative framework based on focal themes and their reciprocal connections.