bluuebunny/crossref_metadata_2025 huggingface dataset:
Leiomyoma in Retzius’ space: An unusual location
Authors: Niwa Naoya , Yanaihara Hitoshi , Horinaga Minoru , Asakura Hirotaka
Published: September 2013

We report the case of a 54-year-old woman who presented to our hospital with microscopic hematuria. An imaging study revealed a tumour in the Retzius’ space. The tumour was surgically removed by an abdominal approach. Pathological examination revealed aleiomyoma. This case demonstrates a leiomyoma in an unusual location.
Uncommon testicular metastasis of a primary neuroendocrine tumour of the lung
Authors: Birker Ingrid L. , Van der Zee Johan A. , Keizer Karin M.
Published: September 2013

A 52-year-old male presented with an asymptomatic palpable mass of the right testicle. Ultrasound confirmed the presence of a testicular tumour and a hemicastration was performed. None of the testis cancer-related tumour markers were elevated and histological findings revealed a neuroendocrine carcinoma, possibly a metastasis from another primary site. The radiological findings showed a lesion in the lung, and a positron emission tomography (PET)-scan was made. The PET scan revealed an increased fluorodeoxyglucose (FDG) uptake in the pulmonary lesion. It also showed lymphatic and hepatic metastases. The patient had no complaints besides a palpable testicular mass and was diagnosed with a cT1aN3M1b neuroendocrine carcinoma of the lower left field of the lung, stage IV. To our knowledge, the presentation of testicular metastasis of a neuroendocrine carcinoma of the lung has not been described in the literature. No curative options were available and the patient is being treated with salvage chemotherapy.
La compétence à lire et acter les finalités effectives de l’école dans un dispositif partenarial École-Communauté comme condition de réalisation de l’intervention socio-éducative
Authors: Couturier Yves , Lefebvre Chantal , Bilodeau Angèle , Bastien Robert
Published: September 2013

Cet article porte sur une initiative de collaboration École-Communauté dans le contexte montréalais. L’initiative Un milieu ouvert sur ses écoles (MOÉ) présente toutes les caractéristiques d’une action à base communautaire reprenant, selon une composition cependant fort particulière, l’ensemble des ingrédients connus d’une collaboration École-Communauté efficiente. Nous montrerons dans cet article en quoi cette composition produit par petites touches une innovation, dont l’essence s’exprime tout entière par le renversement symbolique énoncé dans le nom même de l’initiative, soit le fait que ce soit la communauté qui s’ouvre à l’école, et non le contraire, comme c’est très souvent le cas. Les résultats que nous présentons découlent d’une analyse qualitative réalisée sur un corpus de données documentaires, d’entrevues et de notes d’observation visant à modéliser la pratique professionnelle qui incarne le plus concrètement l’intervention de MOÉ, soit celle des intervenants communautaires scolaires (ICS).
Medical Practice and the Climate Crisis
Authors: Levinson Wendy
Published: July 2024

This JAMA Insights discusses the significant role that health care plays in the climate crisis and provides strategies to assist clinicians with improving patient care while also protecting the environment.
Endometriosis Typology and Ovarian Cancer Risk
Authors: Barnard Mollie E. , Farland Leslie V. , Yan Bin , Wang Jing , Trabert Britton , Doherty Jennifer A. , Meeks Huong D. , Madsen Myke , Guinto Emily , Collin Lindsay J. , Maurer Kathryn A. , Page Jessica M. , Kiser Amber C. , Varner Michael W. , Allen-Brady Kristina , Pollack Anna Z. , Peterson Kurt R. , Peterson C. Matthew , Schliep Karen C.
Published: July 2024

Importance

Endometriosis has been associated with an increased risk of ovarian cancer; however, the associations between endometriosis subtypes and ovarian cancer histotypes have not been well-described.

Objective

To evaluate the associations of endometriosis subtypes with incidence of ovarian cancer, both overall and by histotype.

Design, Setting, and Participants

Population-based cohort study using data from the Utah Population Database. The cohort was assembled by matching 78 893 women with endometriosis in a 1:5 ratio to women without endometriosis.

Exposures

Endometriosis cases were identified via electronic health records and categorized as superficial endometriosis, ovarian endometriomas, deep infiltrating endometriosis, or other.

Main Outcomes and Measures

Estimated adjusted hazard ratios (aHRs), adjusted risk differences (aRDs) per 10 000 women, and 95% CIs for overall ovarian cancer, type I ovarian cancer, and type II ovarian cancer comparing women with each type of endometriosis with women without endometriosis. Models accounted for sociodemographic factors, reproductive history, and past gynecologic operations.

Results

In this Utah-based cohort, the mean (SD) age at first endometriosis diagnosis was 36 (10) years. There were 597 women with ovarian cancer. Ovarian cancer risk was higher among women with endometriosis compared with women without endometriosis (aHR, 4.20 [95% CI, 3.59-4.91]; aRD, 9.90 [95% CI, 7.22-12.57]), and risk of type I ovarian cancer was especially high (aHR, 7.48 [95% CI, 5.80-9.65]; aRD, 7.53 [95% CI, 5.46-9.61]). Ovarian cancer risk was highest in women with deep infiltrating endometriosis and/or ovarian endometriomas for all ovarian cancers (aHR, 9.66 [95% CI, 7.77-12.00]; aRD, 26.71 [95% CI, 20.01-33.41]), type I ovarian cancer (aHR, 18.96 [95% CI, 13.78-26.08]; aRD, 19.57 [95% CI, 13.80-25.35]), and type II ovarian cancer (aHR, 3.72 [95% CI, 2.31-5.98]; aRD, 2.42 [95% CI, −0.01 to 4.85]).

Conclusions and Relevance

Ovarian cancer risk was markedly increased among women with ovarian endometriomas and/or deep infiltrating endometriosis. This population may benefit from counseling regarding ovarian cancer risk and prevention and could be an important population for targeted screening and prevention studies.
New Reproductive Privacy Rule to Protect Both Patients and Physicians
Authors: Shachar Carmel
Published: July 2024

This Viewpoint describes the newly finalized Reproductive Privacy Rule, a HIPAA regulatory update intended to prevent law enforcement in abortion-restrictive states from obtaining reproductive care medical records to prosecute patients and physicians.
Parent-Guided Developmental Intervention for Infants With Very Low Birth Weight
Authors: Silveira Rita C. , Valentini Nadia C. , O’Shea T. Michael , Mendes Eliane W. , Froes Graciela , Cauduro Lenir , Panceri Carolina , Fuentefria Rubia N. , Procianoy Renato S.
Published: July 2024

Importance

Early interventions improve neurodevelopmental outcomes after preterm birth, but few studies of early intervention have focused on preterm infants whose families reside in low- or middle-income countries (LMICs).

Objective

To evaluate whether parent-guided early intervention improves the neurodevelopmental outcomes of preterm infants in an LMIC.

Design, Setting, and Participants

This randomized clinical trial was performed at a high-risk obstetric referral hospital in Brazil, with outcome evaluations by examiners masked to randomization group. Eligibility criteria were (1) birth at the study hospital, (2) residence within 40 km of the birth hospital, and (3) gestational age of less than 32 weeks or birth weight of less than 1500 g. Of 138 enrolled infants, 19 died after randomization and 19 withdrew from the study; all other enrollees (50 per randomization group) were evaluated for the primary outcome. Data were collected from January 1, 2016, to May 31, 2022, and analyzed from June 10 to July 31, 2022.

Interventions

On postnatal day 7, infants were randomized to usual care, consisting of support for lactation, kangaroo care, and routine developmental therapies, or to a parent-guided enhanced developmental intervention, consisting of usual care plus infant massage and enhanced visual stimulation, auditory stimulation, social interactions, and support for motor development, instructed by developmental therapists.

Main Outcomes and Measures

The primary outcome was the Bayley Scales of Infant and Toddler Development–Third Edition score at 18 months of age adjusted for prematurity.

Results

Among the 100 infants included in the analysis, mean (SD) gestational age was 28.4 (2.2) weeks, and 57 (57%) were male. The mean (SD) gestational age for the intervention group was 28.3 (2.3) weeks; for the usual care group, 28.5 (2.2) weeks. Female infants accounted for 21 infants (42%) of the intervention group and 22 (44%) of the usual care group; male infants, 29 (58%) and 28 (56%), respectively. The enhanced developmental intervention group had higher cognitive scores at 18 months of corrected age (mean [SD], 101.8 [11.9] vs 97.3 [13.5]; mean difference, 4.5 [95% CI, 0.1-8.9]).

Conclusions and Relevance

In this randomized clinical trial of a parent-guided developmental intervention for early cognitive function of very preterm or very low birth weight infants implemented in an LMIC, the intervention improved very preterm infants’ neurodevelopmental outcomes at 18 months of adjusted age. Parent-guided early intervention can improve neurodevelopmental outcome of very preterm infants born in LMICs.

Trial Registration

ClinicalTrials.gov Identifier: NCT02835612
Seeding roadsides is necessary but not sufficient for restoring native floral communities
Authors: Mitchell Timothy S. , Verhoeven Michael R. , Darst Ashley L. , Patterson Catherine H. , Snell‐Rood Emilie C.
Published: July 2024

The plant community in roadside right‐of‐ways is an important component of transportation infrastructure. Revegetation after construction is an opportunity to improve the plant community and create pollinator habitat. However, native seed mixes are substantially more expensive than those used in conventional roadside plantings, and transportation agencies often lack resources for management.

Here, we compare the actively flowering plant community across a growing season in roadside plots seeded with native seed mixes versus non‐native seed mixes in Minnesota, USA. Plots varied in age from 2 to 20 years old.

We demonstrate that native seeded plots had more native flowering forbs than non‐native seeded plots, as native flowers were rare in the non‐native seeded plots. However, despite some native species establishing well, many species in native seed mixes had poor or non‐existent establishment. Furthermore, the native and non‐native seeded plots converged in the makeup of their floral communities after a few years; part of this pattern is due to colonisation of species that were never seeded at either type of plot.

Practical implication. If the goal of revegetation is to produce diverse, native dominated floral communities in roadsides, agencies must invest more in long‐term management. Managers could also alter seed mixes to remove species that fail to establish, which would reduce the cost of the seed mix, but not the diversity of the plant community that ultimately establishes. The use of such streamlined seed mixes across more land area would increase the availability of pollinator habitat without substantially altering current budgets or management plans.
Negative versus Positive Transfer
Authors: Bardovi‐Harlig Kathleen , Sprouse Rex A.
Published: July 2024

In the context of non‐native language acquisition or use,
transfer
broadly refers to influence of the learner's native language. Any two languages diverge in some respects but converge in other respects. When the influence of the native language (or a previously acquired non‐native language) leads to errors in the acquisition or use of the target language, we say that
negative transfer
or
interference
occurs. When the influence of a previously acquired language leads to immediate or rapid acquisition or use of the target language, we speak of
positive transfer
or
facilitation
.
Motivational Strategies
Authors: Abrar‐ul‐Hassan Shahid
Published: July 2024

Motivation is a key element in L2 teaching, including EAL (English as an additional language), and extensive research has highlighted a relationship between learner motivation and success. Although scholars have captured the construct of learner motivation variously, a consensus exists regarding its major features. Adopting the learner‐centered approach to EAL teaching, a set of motivational strategies can be developed according to the needs and demands of a language program. The selection of these strategies is guided by the sociocultural dynamics of instructional settings by conducting needs assessment for motivational teaching. An overarching approach is motivation‐sensitive teaching (MST) that helps create enabling conditions for motivation. To employ MST, a strategy‐based regime can be actualized with three interlinked macrostrategies: Promoting learners' involvement in the program, creating a safe atmosphere for learners in the class, and making language learning pleasurable and interesting. These macrostrategies lay the foundation for MST and incorporate learner motivation into pedagogy that harnesses the learner's self as an immense resource for motivation.
Dictogloss Technique
Authors: del Pilar García Mayo María
Published: July 2024

Research on second language acquisition has shown that learners' attention to formal aspects of languages is of the utmost importance in an otherwise communicative classroom. Research has shown that keeping a focus on both form and meaning is difficult due to the limited capacities of human processing. This entry briefly describes the dictogloss technique, in which formal aspects of language may be highlighted when learners are engaged in completing communicative tasks. Research carried out using this technique is summarized and pedagogical implications are also considered.
Own‐Language Use in ELT
Authors: Hall Graham
Published: July 2024

Although overlooked or ignored in the professional literature of English language teaching (ELT) for much of the 20th century, own‐language use has recently re‐emerged as a focus of research and practice. After defining key terms and concepts, including the “monolingual assumption” that has underpinned much English‐only teaching in ELT, this entry outlines both the reasons for its initial “disappearance” from methodological debate and the recent resurgence of interest in its potential to support English language teaching and learning. Following a summary of commonly presented arguments against own‐language use, a range of perspectives in support of drawing on the learners' own language(s) in class are reviewed. Subsequently, a range of own‐language‐use classroom functions and practices are discussed, while the continued variation in what teachers around the world actually believe and do regarding own‐language use is highlighted.
Visual Reflective Practice
Authors: Pujolà Joan‐Tomàs , Birello Marilisa
Published: July 2024

Visual reflective practice (VRP) explores the role that images play in language education. Studies on students' language‐learning processes demonstrate how images can facilitate metalinguistic and metacognitive reflection across various age groups. And studies on reflective practice in language teacher education show how images reveal teacher beliefs and identities, contributing to a deeper understanding of language teaching and learning dynamics. The pedagogical implications of VRP suggest that visual methods can offer innovative approaches to language teaching and learning, foster digital literacy skills, and enrich conceptual understanding in language teacher education.
Clinical application of traditional Chinese medicine in the treatment of neuroendocrine neoplasms
Authors: Chen Ying‐Ying , Hu Shao‐Bo , Su Fei , Yu Fu‐Huan , Chen Ru‐Ao , Cheng Zi‐Xuan , Tan Huang‐Ying
Published: July 2024

Neuroendocrine neoplasms (NENs) are a group of rare tumors with strong heterogeneity. Among these tumors, well‐differentiated tumors can have a relatively good survival prognosis, while some tumors can have strong malignant potential and lead to increased mortality. Traditional Chinese medicine (TCM), which has a long history of thousands of years, has been widely used to treat tumors due to its unique advantages, such as economy, efficacy and few side effects. In recent years, the role of TCM in the treatment of NENs has gradually emerged. It can not only help prevent tumor recurrence and reduce the side effects of radiotherapy and chemotherapy but also relieve symptoms and improve quality of life. Various clinical studies have indicated that TCM has achieved good curative effects at different stages of treatment. We summarized the last 10 years of research progress on the clinical application of TCM in the treatment of NENs from four points of entry, aiming to provide a reference for the treatment of NENs.
Hollow and Porous N‐Doped Carbon Framework as Lithium‐Sulfur Battery Interlayer for Accelerating Polysulfide Redox Kinetics
Authors: Zuo Xintao , Zhen Mengmeng , Liu Dapeng , Fu Lichao , Qiu Yanhui , Liu Huiling , Zhang Yu
Published: July 2024

Lithium‐sulfur batteries (LSBs) have become one of the most powerful candidates for next‐generation battery technologies due to their high theoretical energy density and low cost. However, the notorious shuttle effect of soluble lithium polysulfides (LiPSs) and sluggish conversion reaction kinetics cause low sulfur utilization and inferior cycle life. Rational catalyst design on hierarchical pore structures and composition optimization is highly desired to realize synergetic enrichment, accommodation, and catalytic redox capacity of sulfur species. In this consideration, the hollow and porous N‐doped carbon framework is prepared, in which Co nanoparticles (NPs) are evenly embedded (denoted as Co‐HMCF) to modulate electron cloud density of carbons. Electrochemical tests and density functional theory (DFT) calculations demonstrate that Co‐HMCF could simultaneously deliver superior catalytic activity in accelerating LiPSs conversion as well as Li2S nucleation/decomposition to improve overall sulfur redox kinetics. Consequently, the Co‐HMCF interlayer significantly improves the battery performance, including high discharge capacity output (1538 mAh g−1 at 0.2 C), stable long‐term cycle (0.047% capacity decay per cycle for 800 cycles at 1.0 C), and exceptional rate capacity (582 mAh g−1 at 5.0 C).
Modified Re‐Entrant‐Like (K, Na)NbO3‐Based Relaxors with Superior Electrostrain Properties
Authors: Wang Xin , Sun Xi‐xi , Yang Yuxuan , Hao Xiaodong , Lv Xiang , Zhang Yang , Ma Yinchang , Zhang Xi‐xiang , Wu Haijun , Wu Jiagang
Published: July 2024

Piezoceramics with large strain output, low hysteresis, and wide operation temperature are indispensable for the high‐end displacement control. Unfortunately, requiring these merits simultaneously remains a long‐standing challenge for lead‐free piezoceramics promising for replacing lead‐based ones. Herein a new strategy to resolve this challenge by developing modified re‐entrant‐like potassium sodium niobate ((K, Na)NbO3, KNN) relaxors is presented. Multi‐scale structural analysis reveals the presence of the significant local disorder, nano‐sized multi‐phase coexistence, and ultra‐fine grains, which facilitate the polarization rotation, effectively eliminate non‐180° domains, and erase polymorphic phase transition features in re‐entrant‐like KNN relaxors. Consequently, a combination of large strain (≈0.19%), ultra‐low hysteresis (<7%), high electrostriction coefficient (Q33 = 0.049 m4 C−2), and benign temperature stability (i.e., strain varies less than 10.6% within 30–120 °C) is realized, superior to other lead‐free relaxors. Therefore, this strategy provides a novel paradigm for designing high‐performance lead‐free piezoceramics used for high‐precision actuators.
High‐Efficiency Multilevel Phase Lenses with Nanostructures on Polyimide Membranes
Authors: Howe Leslie , Rajapaksha Tharindu D. , Ellepola Kalani H. , Ho Vinh X. , Aycock Zachary , Nguyen Minh L. P. , Leckey John P. , Macdonnell Dave G. , Kim Hyun Jung , Vinh Nguyen Q.
Published: July 2024

The emergence of planar meta‐lenses on flexible materials has profoundly impacted the long‐standing perception of diffractive optics. Despite their advantages, these lenses still face challenges in design and fabrication to obtain high focusing efficiency and resolving power. A nanofabrication technique is demonstrated based on photolithography and polyimide casting for realizing membrane‐based multilevel phase‐type Fresnel zone plates (FZPs) with high focusing efficiency. By employing advantageous techniques, these lenses with nanostructures are directly patterned into thin polyimide membranes. The computational and experimental results have indicated that the focusing efficiency of these nanostructures at the primary focus increases significantly with increasing the number of phase levels. Specifically, 16‐level phase lenses on a polyimide membrane can achieve a focusing efficiency of more than 91.6% of the input signal (9.5 times better than that of a conventional amplitude‐type FZP) and focus light into a diffraction‐limited spot together with very weak side‐lobes. Furthermore, these lenses exhibit considerably reduced unwanted diffraction orders and produce extremely low background signals. The potential impact of these lenses extends across various applications and techniques including microscopy, imaging, micro‐diffraction, remote sensing, and space flight instruments which require lightweight and flexible configurations.
Point‐of‐Care Urinary Tract Infection (UTI) Diagnosis Enhanced by Nanostructured Biosensors: Review Paper
Authors: Yang Songlin , Berto Fernanda Gabrigna , Denstedt John , Tang Howyn , Zhang Jin
Published: July 2024

Urinary tract infections (UTIs) are the most common nosocomial infection in North America leading to over $12 billion in annual health care costs. UTIs can significantly reduce the quality of life and, in severe cases, result in sepsis and mortality. According to Public Health Ontario, over 80% of long‐term care home (LTCH) residents with asymptomatic bacteriuria are treated with antibiotics, however, less than 50% of the antibiotic treatments for UTIs show clinical benefit. Current confirmatory processes for UTIs are primarily dependent on the completion of urine cultures which can result in a delay of more than 24 h. Therefore, there is a need to develop new efficient diagnostic methods to provide timely test results and prevent multidrug resistance. Emerging nanomaterials with special physical and chemical properties have demonstrated great potential in rapid detection of UTI‐associated bacteria. This review paper provides a thorough analysis of current diagnostic tools for UTIs. Emerging nanostructured biosensors are reviewed to elucidate the most recent progress in the detection of uropathogens. It is believed that advanced biosensors integrated with nanotechnology will contribute to the timely diagnosis of UTIs and improve the accuracy of the results, which will lead to better treatment of this prevalent clinical condition.
Boosting electrocatalytic oxidation of heterocyclic alcohols with low usage aminoxyl radicals via MOF‐derived NiOOH
Authors: Li Kai , Ren Linhan , Li Suiqin , Liu LiHao , He Jiahui , Xu Yinjie , Wang Mengxin , Zhao Shuying , Wang Yuhang , Chen Ying , Wang Jieyu , Zhong Xing , Wang Jianguo
Published: July 2024

Aminoxyl‐mediated electrocatalysis offers a sustainable approach for the oxidation of alcohols to carboxylic acids. However, the high dosage of aminoxyl radicals and the limiting current density hinder the practicality of industrial application. Herein, a nickel‐based electrocatalyst (Ni‐tpdc) was synthesized on a three‐dimensional porous graphite felt substrate. Taking advantage of the synergistic effect of the electrochemically activated Ni‐tpdc/GF electrocatalyst with 4‐acetamido‐TEMPO, the yield of 4‐pyridinecarboxylic acid was up to 99% with only 1 mol% ACT. A series of in situ measurements showed that NiOOH enhanced the activity of the intrinsic electrocatalyst. In addition, the synergistic system was extended to the oxidation of various heterocyclic alcohols. The scale‐up synthesis of chiral acid (LEV‐CO2H) was achieved in an improved electrolyzer with a yield of 95.4%, enantiomeric retention of 99.2%, and space–time yield of 34.12 kg/m3 h. The practicality and effectiveness of this synergistic electrocatalytic strategy in practical electrosynthesis was further demonstrated.
One‐dimensional kinetic model with novel bubble size equation in molten‐metal bubble column reactors for CH4 pyrolysis
Authors: Le Bang Thanh , Ngo Son Ich , Lim Young‐Il , Lee Uen‐Do
Published: July 2024

Non‐oxidative methane pyrolysis produces hydrogen and solid carbon without CO2 in molten‐metal bubble column reactors (MMBCRs). One‐dimensional MMBCR models, which involve bubble hydrodynamics, reactions, heat transfer, and axial dispersion, have been developed for reactor design; however, empirical equations of the mean bubble size derived from bench‐scale experiments have also been used for industrial‐scale MMBCRs. In this study, a novel bubble size equation based on dimensionless numbers was proposed for the bubbling, transient, and slugging flow regimes, which is applicable to both bench‐ and industrial‐scale reactors. Using the MMBCR model coupled with the new bubble size, reaction kinetic parameters were identified for four bench‐scale MMBCRs with Te‐based alloys in the bubbling flow regime. In four industrial‐scale MMBCRs at 980°C, belonging to the transient flow regime for an H2 production of 10,000 Nm3/h, the bubble size and methane conversion were approximately 40 mm and under 35%, respectively.
Reconstructing Soft Robotic Touch via In‐Finger Vision
Authors: Guo Ning , Han Xudong , Zhong Shuqiao , Zhou Zhiyuan , Lin Jian , Wan Fang , Song Chaoyang
Published: July 2024

Incorporating authentic tactile interactions into virtual environments presents a notable challenge for the emerging development of soft robotic metamaterials. In this study, a vision‐based approach is introduced to learning proprioceptive interactions by simultaneously reconstructing the shape and touch of a soft robotic metamaterial (SRM) during physical engagements. The SRM design is optimized to the size of a finger with enhanced adaptability in 3D interactions while incorporating a see‐through viewing field inside, which can be visually captured by a miniature camera underneath to provide a rich set of image features for touch digitization. Employing constrained geometric optimization, the proprioceptive process with aggregated multi‐handles is modeled. This approach facilitates real‐time, precise, and realistic estimations of the finger's mesh deformation within a virtual environment. Herein, a data‐driven learning model is also proposed to estimate touch positions, achieving reliable results with impressive R2 scores of 0.9681, 0.9415, and 0.9541 along the x, y, and z axes. Furthermore, the robust performance of the proposed methods in touch‐based human–cybernetic interfaces and human–robot collaborative grasping is demonstrated. In this study, the door is opened to future applications in touch‐based digital twin interactions through vision‐based soft proprioception.
Optical genome mapping improves the accuracy of classification, risk stratification, and personalized treatment strategies for patients with acute myeloid leukemia
Authors: Loghavi Sanam , Wei Qing , Ravandi Farhad , Quesada Andres E. , Routbort Mark J. , Hu Shimin , Toruner Gokce A. , Wang Sa A. , Wang Wei , Miranda Roberto N. , Li Shaoying , Xu Jie , DiNardo Courtney D. , Daver Naval , Kadia Tapan M. , Issa Ghayas C. , Kantarjian Hagop M. , Medeiros L. Jeffrey , Tang Guilin
Published: July 2024

Cytogenomic characterization is crucial for the classification and risk stratification of acute myeloid leukemia (AML), thereby facilitating therapeutic decision‐making. We examined the clinical utility of optical genome mapping (OGM) in 159 AML patients (103 newly diagnosed and 56 refractory/relapsed), all of whom also underwent chromosomal banding analysis (CBA), fluorescence in situ hybridization, and targeted next‐generation sequencing. OGM detected nearly all clinically relevant cytogenetic abnormalities that SCG identified with >99% sensitivity, provided the clonal burden was above 20%. OGM identified additional cytogenomic aberrations and/or provided information on fusion genes in 77 (48%) patients, including eight patients with normal karyotypes and four with failed karyotyping. The most common additional alterations identified by OGM included chromoanagenesis (n = 23), KMT2A partial tandem duplication (n = 11), rearrangements involving MECOM (n = 7), NUP98 (n = 2), KMT2A (n = 2), JAK2 (n = 2), and other gene fusions in 17 patients, with 10 showing novel fusion gene partners. OGM also pinpointed fusion genes in 17 (11%) patients where chromosomal rearrangements were concurrently detected by OGM and CBA. Overall, 24 (15%) aberrations were identified exclusively by OGM and had the potential to alter AML classification, risk stratification, and/or clinical trial eligibility. OGM emerges as a powerful tool for identifying fusion genes and detecting subtle or cryptic cytogenomic aberrations that may otherwise remain undetectable by CBA.
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry
Authors: Klamut Natalia , Bothwell Samantha , Carl Alexandra E. , Bamba Vaneeta , Law Jennifer R. , Brickman Wendy J. , Klein Karen O. , Kanakatti Shankar Roopa , Pinnaro Catherina T. , Fechner Patricia Y. , Prakash Siddharth K. , Gutmark‐Little Iris , Howell Susan , Tartaglia Nicole , Good Marybel , Ranallo Kelly C. , Davis Shanlee M.
Published: July 2024

Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with trisomy X (45,X/47,XXX or 45,X/46,XX/47,XXX) (~3% of TS). We compared the diagnostic, perinatal, medical, and neurodevelopmental comorbidities of mosaic 45,X/47,XXX (n = 35, 9.4%) with nonmosaic 45,X (n = 142) and mosaic 45,X/46,XX (n = 66). Females with 45,X/47,XXX had fewer neonatal concerns and lower prevalence of several TS‐related diagnoses compared with 45,X; however the prevalence of neurodevelopmental and psychiatric diagnoses were not different. Compared to females with 45,X/46,XX, the 45,X/47,XXX group was significantly more likely to have structural renal anomalies (18% vs. 3%; p = 0.03). They were twice as likely to have congenital heart disease (32% vs. 15%, p = 0.08) and less likely to experience spontaneous menarche (46% vs. 75% of those over age 10, p = 0.06), although not statistically significant. Congenital anomalies, hypertension, and hearing loss were primarily attributable to a higher proportion of 45,X cells, while preserved ovarian function was most associated with a higher proportion of 46,XX cells. In this large TS cohort, 45,X/47,XXX was more common than previously reported, individuals were phenotypically less affected than those with 45,X, but did have trends for several more TS‐related diagnoses than individuals with 45,X/46,XX.
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Authors: Gasparini Simone , Balestrini Simona , Saccaro Luigi Francesco , Bacci Giacomo , Panichella Giorgia , Montomoli Martino , Cantalupo Gaetano , Bigoni Stefania , Mancano Giorgia , Pellacani Simona , Leuzzi Vincenzo , Volpi Nila , Mari Francesco , Melani Federico , Cavallin Mara , Pisano Tiziana , Porcedda Giulio , Vaglio Augusto , Mei Davide , Barba Carmen , Parrini Elena , Guerrini Renzo
Published: July 2024

COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2‐related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2‐related disease, we developed a clinical questionnaire that we administered to 43 individuals from 23 distinct families carrying pathogenic variants. In this cohort, we extended ophthalmological and cardiological examinations to asymptomatic individuals and those with only limited or mild, often nonspecific, clinical signs commonly occurring in the general population (i.e., oligosymptomatic). The most frequent clinical findings emerging from both the literature review and the questionnaire included stroke (203/685, 29.6%), seizures or epilepsy (199/685, 29.0%), intellectual disability or developmental delay (168/685, 24.5%), porencephaly/schizencephaly (168/685, 24.5%), motor impairment (162/685, 23.6%), cataract (124/685, 18.1%), hematuria (63/685, 9.2%), and retinal arterial tortuosity (58/685, 8.5%). In oligosymptomatic and asymptomatic carriers, ophthalmological investigations detected retinal vascular tortuosity (5/13, 38.5%), dysgenesis of the anterior segment (4/13, 30.8%), and cataract (2/13, 15.4%), while cardiological investigations were unremarkable except for mild ascending aortic ectasia in 1/8 (12.5%). Our multimodal approach confirms highly variable penetrance and expressivity in COL4A1/2‐related conditions, even at the intrafamilial level with neurological involvement being the most frequent and severe finding in both children and adults. We propose a protocol for prevention and management based on individualized risk estimation and periodic multiorgan evaluations.
Efficacy of acupuncture for allergic rhinitis in children: Systematic review and meta‑analysis with trial sequential analysis
Authors: Xiao Qinwen , Ni Zhichao , Wang Rongyu , Jiang Wen , Yuan Jinyao
Published: July 2024

Background

Acupuncture has been shown for the treatment of allergic rhinitis in previous studies. Nevertheless, relevant evidence was lacked for paediatric patients with allergic rhinitis. We aim to validate the efficacy of acupuncture for allergic rhinitis in children by meta‐analysis and trial sequence analysis.

Method

Comprehensive search of eight databases were conducted until August 27, 2023. Randomized controlled trials comparing acupuncture alone or in combination with drugs versus medication in children with AR were included. The primary outcome was total nasal symptom score (TNSS). The secondary outcomes were serum immunoglobulin E levels, and relapse rates.

Results

Thirteen studies involving 1186 participants were included. In results, acupuncture group (AC group) versus medication group (Med group) shows no significant difference in the treatment of AR in children (risk ratio [RR] = 1.10, 95% CI = 0.97 to 1.24, p = 0.13), while TSA suggested the included sample size did not exceed required information size (RIS). Significant differences were found between the AC + Med group versus the Med group (RR = 1.29, 95% CI = 1.17 to 1.42, p < 0.00001), with sufficient sample size. Results in serum IgE after treatment which favored the Med group (MD = 51.94, 95% CI [22.24, 81.65], p = 0.0006). In terms of relapse rate, The AC group had a lower relapse rate than the Med group (RR = 0.40, 95% CI = 0.26–0.63, p < 0.0001).

Conclusions

Acupuncture is an efficacious treatment for allergic rhinitis in children, but this conclusion might be limited by the generally low quality of evidence. TSA suggested additional high‐quality trials with larger sample sizes and longer treatment durations were needed.
Suppressing UBE2N ameliorates Alzheimer's disease pathology through the clearance of amyloid beta
Authors: Zhang Chen , Jia Qingqing , Zhu Longhong , Hou Junqi , Wang Xiang , Li Dandan , Zhang Jiawei , Zhang Yiran , Yang Su , Tu Zhuchi , Yan Xiao‐Xin , Yang Weili , Li Shihua , Li Xiao‐Jiang , Yin Peng
Published: July 2024

INTRODUCTION

Aging is one of the risk factors for the early onset of Alzheimer's disease (AD). We previously discovered that the age‐dependent increase in Ubiquitin Conjugating Enzyme E2 N (UBE2N) plays a role in the accumulation of misfolded proteins through K63 ubiquitination, which has been linked to AD pathogenesis. However, the impact of UBE2N on amyloid pathology and clearance has remained unknown.

RESULTS

We observed the elevated UBE2N during the amyloid beta (Aβ) generation in the brains of 5×FAD, APP/PS1 mice, and patients with AD, in comparison to healthy individuals. UBE2N overexpression exacerbated amyloid deposition in 5×FAD mice and senescent monkeys, whereas knocking down UBE2N via CRISPR/Cas9 reduced Aβ generation and cognitive deficiency. Moreover, pharmacological inhibition of UBE2N ameliorated Aβ pathology and subsequent transcript defects in 5×FAD mice.

DISCUSSION

We have discovered that age‐dependent expression of UBE2N is a critical regulator of AD pathology. Our findings suggest that UBE2N could serve as a potential pharmacological target for the advancement of AD therapeutics.

Highlights

Ubiquitin Conjugating Enzyme E2 N (UBE2N) level was elevated during amyloid beta (Aβ) deposition in AD mouse and patients' brains.

UBE2N exacerbated Aβ generation in the AD mouse and senescent monkey.

Drug inhibition of UBE2N ameliorated Aβ pathology and cognitive deficiency.
Rationally modulating thiophene‐ and porphyrin‐based donor‐acceptor type covalent organic framework for effective photocatalytic organic reactions
Authors: Li Jiaying , Qiu Yuping , Song Dengmeng , Lei Lin , Wang Chen , Jia Chuandong , He Wei , Li Jun , Wang Ning
Published: July 2024

In order to specifically demonstrate the improvement of photocatalytic activity attributed to the donor‐acceptor (D‐A) structure rather than other contributing factors, two highly comparable COFs incorporating porphyrin and thiophene species are synthesized in this work. The first COF, named BTDA‐Por, is composed of porphyrin (Por) as the donor unit and 2,2′‐bithiophene (BTDA) as the acceptor moiety. The second COF, referred to as TT‐Por, is constructed using Por and thieno[3,2‐b]thiophene (TT) units while lacking a D‐A structure. These synthesized COFs serve as effective models for investigating the role of D‐A structures in improving photocatalytic activity. Photoelectronic property studies and density function theory calculations indicate that the D‐A configuration can significantly enhance the efficiency of charge carrier generation, separation, and migration. Consequently, the D‐A type BTDA‐Por exhibits superior performance in photochemical reactions such as oxidative homocoupling of aromatic amine and reversible complexation‐mediated radical polymerization when compared to the non‐D‐A type TT‐Por.
Fabrication and characteristics of functional hydrogels based on dopamine‐grafted gelatin and oxyglucan with incorporation of dipotassium glycyrrhizinate potential for wound dressings
Authors: Nie Lei , Ding Xiaoyue , Zhang Han , Li Xinran , Li Man , Ding Peng , Okoro Oseweuba Valentine , Podstawczyk Daria , Sun Yanfang , Jiang Guohua , Shavandi Amin
Published: July 2024

Hydrogel have been widely used to promote skin tissue regeneration and accelerate wound healing. The development of injectable hydrogels with multi‐functional integration is a priority, especially with antibacterial properties and cytocompatibility. Here, we reported a simple, and versatile method to fabricate a functional hydrogel with potential for wound dressing applications. The dopamine‐grafted gelatin (GT‐DA) and oxidized dextran (oxyglucan, ODex) were synthesized, and dipotassium glycyrrhizinate (DG) was in situ incorporated to fabricate the composite hydrogels (GDO) through the Schiff base reaction. SEM images revealed that hydrogel has a porous structure. By increasing the ratio of GT‐DA to ODex from 1 to 4, the storage modulus (G') and hydrogel network stability nearly doubled, reaching 900 Pa and 220% strain, respectively. The enhancement in mechanical properties could be attributed to the higher cross‐linking density resulting from increased Schiff base bonds in the GDO hydrogels. Furthermore, the GDO hydrogel exhibited antioxidant activity and antibacterial effects on Escherichia coli and Staphylococcus aureus. Moreover, the hydrogel demonstrated cytocompatibility after culturing with human umbilical vein endothelial cells (HUVECs). The results proved that the fabricated GDO hydrogels have the potential to be used as wound dressings.
Surface modification of polylactide films and their hydrolytic degradation performances in artificial seawater
Authors: Yao Lihui , Li Yuzhu , Li Ya , Wang Yajuan , Wang Linghui , Qiu Dan , Weng Yunxuan
Published: July 2024

Benzophenone (BP) and N‐vinylpyrrolidone (NVP) were used to modify the surface of polylactide (PLA) films by UV grafting method. The effects of light distance, temperature, reaction time, and modifier concentration on the structure and properties of PLA films were investigated by Fourier transform infrared spectroscopy, X‐ray photoelectron spectroscopy (XPS), nuclear magnetic resonance spectroscopy, differential scanning calorimetry (DSC), and universal testing machine (UTM). With BP and NVP UV grafting, the hydrophilicity of PLA films is improved, but their thermal and mechanical properties are reduced under different surface modification condition. Base on the principle of good surface hydrophilicity, better mechanical and thermal properties, the hydrolytic degradation performance of modified PLA films in artificial seawater at 70°C was studied by scanning electron microscopy, XPS and DSC. The research results show that the degradation of modified PLA films mainly occurs in the amorphous region, and the degradation process conforms to surface hydrolysis mechanism. The grafting modification of NVP is better than BP to accelerate the degradation process of PLA films in artificial seawater. The degradation of modified PLA undergoes water molecule erosion and autocatalytic degradation reaction. The degradation of BP‐PLA obeys the first‐order kinetics in part, while the degradation of NVP‐PLA is more complex. Therefore, surface hydrophilicity modification is an effective technique for improving the degradability of PLA.
Preparation of lanthanide aluminate‐encapsulated silica nanoparticles toward long‐persistent photoluminescent polymer paint with superhydrophobic and anticorrosion properties
Authors: Al‐Senani Ghadah M. , Al‐Qahtani Salhah D.
Published: July 2024

Smart afterglow paints can function as energy‐saving products that are able to persist lighting in the dark. Additionally, polyurethane paints (PURPs) have shown some limitations, including weak adhesion, poor mechanical performance, poor corrosion, and low water resistance as compared with solvent‐based paints. Herein, nanoparticles of lanthanide aluminate (NLA; 16–24 nm) were mixed with polyurethane and silica to develop novel photoluminescent nanocomposite paints. A precursor of NLA‐encapsulated silica nanoparticles (NLA@Silica; 200–225 nm) can be described as a SiO2‐coated NLA pigment prepared by the heterogeneous precipitation method. Steel was coated with nanocomposite paints made of PURP, silica, and NLA. Using emission spectra and Commission Internationale de l'Eclairage (CIE)  Lab coordinates, the coloring and transparency of painted films were investigated. Upon excitation at 365 nm, the UV‐irradiation of transparent painted films showed green emission at 518 nm. The hydrophobic activity and hardness properties were examined. Using electrochemical impedance spectroscopy (EIS), the anticorrosion of coatings applied to mild steel was studied. Improved anticorrosion characteristics were observed due to the fluorescence of NLA@Silica in the applied coatings. The optimal long‐lasting luminous characteristics were observed for nanocomposite films containing 12.5% of NLA@Silica.
Cloning and characterization of the histone variant gene H2A.Z in Bombyx mori
Authors: Mei Jun , Xu Kunling , Huang Yuyi , Zhang Jingwei , Qian Qitao , Dong Jia , Tong Fudan , Yu Wei , Miao Meng
Published: July 2024

H2A.Z, the most evolutionarily conserved variant of histone H2A, plays a pivotal role in chromatin remodeling and contributes significantly to gene transcription and genome stability. However, the role of H2A.Z in the silkworm (Bombyx mori) remains unclear. In this study, we cloned the BmH2A.Z from B. mori. The open reading frame of BmH2A.Z is 390 bp, encoding 129 amino acids, with a confirmed molecular weight of 13.4 kDa through prokaryotic expression analysis. Sequence analysis revealed that BmH2A.Z has a conserved H2A.Z domain and is closely related to the systemic evolution of other known H2A.Zs. The expression profile of BmH2A.Z at various developmental stages of the B. mori exhibited the highest expression level in the 1st instar, followed by the grain stage and the 2nd instar, and the lowest expression level in the moth. The highest transcript level of BmH2A.Z was observed in the head, with relatively lower levels detected in the blood than in the other tissues under consideration. In addition, the upregulation of BmH2A.Z resulted in the amplified expression of B. mori nucleopolyhedrovirus (BmNPV) genes, thus facilitating the proliferation of BmNPV. This study establishes a foundation for investigating the role of BmH2A.Z in B. mori and its participation in virus‐host interactions.
Skeletal Muscle Composition, Power, and Mitochondrial Energetics in Older Men and Women With Knee Osteoarthritis
Authors: Distefano Giovanna , Harrison Stephanie , Lynch John , Link Thomas M. , Kramer Philip A. , Ramos Sofhia V. , Mau Theresa , Coen Paul M. , Sparks Lauren M. , Goodpaster Bret H. , Cawthon Peggy M. , Cauley Jane A. , Lane Nancy E.
Published: July 2024

Objective

Our objective was to investigate the overall and sex‐specific relationships between the presence and severity of knee osteoarthritis (KOA) and muscle composition, power, and energetics in older adults.

Methods

Male and female patients (n = 655, mean ± SD age 76.1 ± 4.9 years; 57% female) enrolled in the Study of Muscle, Mobility, and Aging completed standing knee radiographs and knee pain assessments. Participants were divided into three groups using Kellgren‐Lawrence grade (KLG) of KOA severity (0–1, 2, or 3–4). Outcome measures included whole‐body muscle mass, thigh fat‐free muscle (FFM) volume and muscle fat infiltration (MFI), leg power, specific power (power normalized to muscle volume), and muscle mitochondrial energetics.

Results

Overall, the presence and severity of KOA is associated with greater MFI, lower leg power and specific power, and reduced oxidative phosphorylation (P trend < 0.036). Sex‐specific analysis revealed reduced energetics only in female patients with KOA (P trend < 0.007) compared to female patients without KOA. In models adjusted for age, sex, race, nonsteroidal anti‐inflammatory drug administration, site or technician, physical activity, height, and participants with abdominal adiposity with KLG 3 to 4 had greater MFI (mean 0.008%, 95% confidence interval [CI] 0.004%–0.011%) and lower leg power (mean −51.56 W, 95% CI −74.03 to −29.10 W) and specific power (mean −5.38 W/L, 95% CI −7.31 to −3.45 W/L) than those with KLG 0 to 1. No interactions were found between pain and KLG status. Among those with KOA, MFI and oxidative phosphorylation were associated with thigh FFM volume, leg power, and specific power.

Conclusion

Muscle health is associated with the presence and severity of KOA and differs by sex. Although muscle composition and power are lower in both male and female patients with KOA, regardless of pain status, mitochondrial energetics is reduced only in female patients.
Difluorocarbene‐Promoted O−O Bond Activation of Peroxy Acids for Electrophilic Carboxylation of Boronic Acids
Authors: Niu Hao‐Lin , Luo Peng‐Xi , Zhang Song‐Lin
Published: July 2024

In this study, a difluorocarbene‐promoted O−O bond activation of peroxy acids is developed through the insertion of difluorocarbene into O−H bond. This activation strategy in synergy with O−B coordination with boronic acids/ester greatly polarizes the O−O bond for in‐situ generation of carboxylium species that reacts with the nucleophilic part of boronic acids in a concerted way to produce carboxylic esters. Good efficiency and functional group tolerance are demonstrated. Application of this method to the functionalization of a boronic acid drug used as HSL enzyme inhibitor produces smoothly the ester derivative. This difluorocarbene‐mediated O−O bond activation strategy is conceptually different from traditional radical type methods, and is also complementary to conventional esterification methods with a distinct retro‐synthetic disconnection.