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Probabilistic bits (p-bits) with thermal- and spin torque-induced nondeterministic magnetization switching are promising candidates for performing probabilistic computing. Previously reported spin torque p-bits include volatile low-energy barrier nanomagnets (LBNMs) with spontaneously fluctuating magnetizations and initialization-necessary nonvolatile magnets. However, initialization-free nonvolatile spin torque p-bits are still lacking. Here, we demonstrate moderately thermal stable spin-orbit torque (SOT) p-bits with non-consecutively deposited Pt//Pt/Co/Pt stacks. Backhopping-like (BH) magnetization switching with a wide range current-tunable probability of final up and down magnetization states from 0% to 100% was achieved, regardless of the initial magnetization state, which was attributed to the interplay of SOT and thermal contributions. Integer factorization using such BH-SOT p-bits in zero magnetic field was demonstrated at times that are significantly shorter than those of existing nonvolatile STT or volatile LBNMs p-bits. Our realization of initialization-free and magnetic field-free moderately thermally stable BH-SOT p-bits opens up a new perspective for probabilistic spintronic applications.
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The loss of semaphorin 3A (Sema3A), which is related to endothelial-to-mesenchymal transition (EndMT) in atrial fibrosis, is implicated in the pathogenesis of atrial fibrillation (AF). To explore the mechanisms by which EndMT affects atrial fibrosis and assess the potential of a Sema3A activator (naringin) to prevent atrial fibrosis by targeting transforming growth factor-beta (TGF-ß)-induced EndMT, we used human atria, isolated human atrial endocardial endothelial cells (AEECs), and used transgenic mice expressing TGF-ß specifically in cardiac tissues (TGF-ß transgenic mice). We evaluated an EndMT marker (Twist), a proliferation marker (proliferating cell nuclear antigen; PCNA), and an endothelial cell (EC) marker (CD31) through triple immunohistochemistry and confirmed that both EndMT and EC proliferation contribute to atrial endocardial fibrosis during AF in TGF-ß transgenic mice and AF patient tissue sections. Additionally, we investigated the impact of naringin on EndMT and EC proliferation in AEECs and atrial fibroblasts. Naringin exhibited an antiproliferative effect, to which AEECs were more responsive. Subsequently, we downregulated Sema3A in AEECs using small interfering RNA to clarify a correlation between the reduction in Sema3A and the elevation of EndMT markers. Naringin treatment induced the expression of Sema3A and a concurrent decrease in EndMT markers. Furthermore, naringin administration ameliorated AF and endocardial fibrosis in TGF-ß transgenic mice by stimulating Sema3A expression, inhibiting EndMT markers, reducing atrial fibrosis, and lowering AF vulnerability. This suggests therapeutic potential for naringin in AF treatment.
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Fibrilação Atrial , Proliferação de Células , Células Endoteliais , Transição Epitelial-Mesenquimal , Flavanonas , Átrios do Coração , Semaforina-3A , Fator de Crescimento Transformador beta , Animais , Humanos , Masculino , Camundongos , Fibrilação Atrial/metabolismo , Fibrilação Atrial/patologia , Fibrilação Atrial/genética , Fibrilação Atrial/tratamento farmacológico , Proliferação de Células/efeitos dos fármacos , Células Cultivadas , Células Endoteliais/efeitos dos fármacos , Células Endoteliais/metabolismo , Células Endoteliais/patologia , Transição Epitelial-Mesenquimal/efeitos dos fármacos , Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Fibroblastos/patologia , Fibrose , Flavanonas/farmacologia , Átrios do Coração/metabolismo , Átrios do Coração/efeitos dos fármacos , Átrios do Coração/patologia , Camundongos Transgênicos , Semaforina-3A/metabolismo , Semaforina-3A/genética , Fator de Crescimento Transformador beta/metabolismoRESUMO
BACKGROUND: Although social vulnerability has been associated with worse postoperative and oncologic outcomes in other cancer types, these effects have not been characterized in patients with soft tissue sarcoma. This study evaluated the association of social vulnerability and oncologic outcomes. METHODS: The authors conducted a single-institution cohort study of adult patients with primary and locally recurrent extremity or truncal soft tissue sarcoma undergoing resection between January 2016 and December 2021. The social vulnerability index (SVI) was measured on a low (SVI 1-39%, least vulnerable) to high (60-100%, most vulnerable) SVI scale. The association of SVI with overall survival (OS) and recurrence-free survival (RFS) was evaluated by Kaplan-Meier analysis and Cox proportional hazard regression. RESULTS: The study identified 577 patients. The median SVI was 44 (interquartile range [IQR], 19-67), with 195 patients categorized as high SVI and 265 patients as low SVI. The median age, tumor size, histologic subtype, grade, comorbidities, stage, follow-up time, and perioperative chemotherapy and radiation utilization were similar between the high and low SVI cohorts. The patients with high SVI had worse OS (p = 0.07) and RFS (p = 0.016) than the patients with low SVI. High SVI was independently associated with shorter RFS in the multivariate analysis (hazard ratio, 1.64; 95% confidence interval, 1.06-2.54) but not with OS (HR, 1.47; 95% CI 0.84-2.56). CONCLUSION: High community-level social vulnerability appears to be independently associated with worse RFS for patients undergoing resection of extremity and truncal soft tissue sarcoma. The effect of patient and community-level social risk factors should be considered in the treatment of patients with extremity sarcoma.
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Extremidades , Recidiva Local de Neoplasia , Sarcoma , Humanos , Feminino , Masculino , Sarcoma/cirurgia , Sarcoma/mortalidade , Sarcoma/patologia , Pessoa de Meia-Idade , Extremidades/cirurgia , Extremidades/patologia , Taxa de Sobrevida , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Recidiva Local de Neoplasia/mortalidade , Idoso , Seguimentos , Prognóstico , Adulto , Populações Vulneráveis , Tronco/cirurgia , Tronco/patologia , Estudos Retrospectivos , Fatores de Risco , Neoplasias de Tecidos Moles/cirurgia , Neoplasias de Tecidos Moles/mortalidade , Neoplasias de Tecidos Moles/patologiaRESUMO
Deep learning-based computer-generated holography (DeepCGH) has the ability to generate three-dimensional multiphoton stimulation nearly 1,000 times faster than conventional CGH approaches such as the Gerchberg-Saxton (GS) iterative algorithm. However, existing DeepCGH methods cannot achieve axial confinement at the several-micron scale. Moreover, they suffer from an extended inference time as the number of stimulation locations at different depths (i.e., the number of input layers in the neural network) increases. Accordingly, this study proposes an unsupervised U-Net DeepCGH model enhanced with temporal focusing (TF), which currently achieves an axial resolution of around 5â µm. The proposed model employs a digital propagation matrix (DPM) in the data preprocessing stage, which enables stimulation at arbitrary depth locations and reduces the computation time by more than 35%. Through physical constraint learning using an improved loss function related to the TF excitation efficiency, the axial resolution and excitation intensity of the proposed TF-DeepCGH with DPM rival that of the optimal GS with TF method but with a greatly increased computational efficiency.
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Little is known about the behavioral and cognitive traits that best predict invasion success. Evidence is mounting that cognitive performance correlates with survival and fecundity, two pivotal factors for the successful establishment of invasive populations. We assessed the quantity discrimination ability of the globally invasive red-eared slider (Trachemys scripta elegans). We further compared it to that of the native stripe-necked turtle (Mauremys sinensis), which has been previously evaluated for its superior quantity discrimination ability. Specifically, our experimental designs aimed to quantify the learning ability as numerosity pairs increased in difficulty (termed fixed numerosity tests), and the immediate response when turtles were presented with varied challenges concurrently in the same tests (termed mixed numerosity tests). Our findings reaffirm the remarkable ability of freshwater turtles to discern numerical differences as close as 9 vs 10 (ratio = 0.9), which was comparable to the stripe-necked turtle's performance. However, the red-eared slider exhibited a moderate decrease in performance in high ratio tests, indicating a potentially enhanced cognitive capacity to adapt to novel challenges. Our experimental design is repeatable and is adaptable to a range of freshwater turtles. These findings emphasize the potential importance of cognitive research to the underlying mechanisms of successful species invasions.
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Tartarugas , Animais , Tartarugas/fisiologia , Projetos de Pesquisa , Adaptação FisiológicaRESUMO
A palladium-catalyzed annulative π-extension reaction of bay-iodinated triphenylenes with aryl iodides/o-chloroaromatic carboxylic acids was developed. This approach enabled the synthesis of diverse polycyclic aromatic compounds, including dibenzo[fg,op]tetracenes, azadibenzo[fg,op]tetracenes, and tribenzo[a,g,m]coronenes. Initial studies indicate that the resulting product, 2,3,8,9,14,15-hexakis(decyloxy)tribenzo[a,g,m]coronene, exhibits good liquid-crystalline properties.
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Ulcerative colitis (UC) is associated with changed dietary habits and mainly linked with the gut microbiota dysbiosis, necroptosis of epithelial cells, and mucosal ulcerations. Liver dysfunction and abnormal level of liver metabolism indices were identified in UC patients, suggesting a close interaction between gut and liver disorders. Methionine-choline deficient diet (MCD) has been shown to induce persistent alterations of gut microbiota and metabolome during hepatitis. In this study we further explored the disease phenotypes in UC patients and investigated whether MCD functioned as a trigger for UC susceptibility. After assessing 88 serum specimens from UC patients, we found significant liver dysfunction and dyslipidemia including abnormal ALT, AST, TG, TC, LDL-c and HDL-c. Liver dysfunction and dyslipidemia were confirmed in DSS-induced colitis mice. We fed mice with MCD for 14 days to cause mild liver damage, and then treated with DSS for 7 days. We found that MCD intake significantly exacerbated the pathogenesis of mucosal inflammation in DSS-induced acute, progressive, and chronic colitis, referring to promotion of mucosal ulcers, colon shortening, diarrhea, inflammatory immune cell infiltration, cytokines release, and abnormal activation of inflammatory macrophages in colon and liver specimens. Intraperitoneal injection of clodronate liposomes to globally delete macrophages dramatically compromised the pathogenesis of MCD-triggering colitis. In addition, MCD intake markedly changed the production pattern of short-chain fatty acids (SCFAs) in murine stools, colons, and livers. We demonstrated that MCD-induced colitis pathogenesis largely depended on the gut microbes and the disease phenotypes could be transmissible through fecal microbiota transplantation (FMT). In conclusion, this study supports the concept that intake of MCD predisposes to experimental colitis and enhances its pathogenesis via modulating gut microbes and macrophages in mice.
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Sulfato de Dextrana , Microbioma Gastrointestinal , Macrófagos , Metionina , Camundongos Endogâmicos C57BL , Animais , Metionina/deficiência , Macrófagos/metabolismo , Macrófagos/imunologia , Masculino , Camundongos , Sulfato de Dextrana/toxicidade , Humanos , Colite Ulcerativa/microbiologia , Colite Ulcerativa/patologia , Colite Ulcerativa/induzido quimicamente , Colite Ulcerativa/imunologia , Deficiência de Colina/complicações , Feminino , Dieta , Colina/metabolismo , Colo/patologia , Colo/microbiologia , Colo/imunologia , Colite/microbiologia , Colite/patologia , Colite/induzido quimicamente , Fígado/patologia , Fígado/metabolismoRESUMO
Research into mRNA vaccines is advancing rapidly, with proven efficacy against coronavirus disease 2019 and promising therapeutic potential against a variety of solid tumors. Adjuvants, critical components of mRNA vaccines, significantly enhance vaccine effectiveness and are integral to numerous mRNA vaccine formulations. However, the development and selection of adjuvant platforms are still in their nascent stages, and the mechanisms of many adjuvants remain poorly understood. Additionally, the immunostimulatory capabilities of certain novel drug delivery systems (DDS) challenge the traditional definition of adjuvants, suggesting that a revision of this concept is necessary. This review offers a comprehensive exploration of the mechanisms and applications of adjuvants and self-adjuvant DDS. It thoroughly addresses existing issues mentioned above and details three main challenges of immune-related adverse event, unclear mechanisms, and unsatisfactory outcomes in old age group in the design and practical application of cancer mRNA vaccine adjuvants. Ultimately, this review proposes three optimization strategies which consists of exploring the mechanisms of adjuvant, optimizing DDS, and improving route of administration to improve effectiveness and application of adjuvants and self-adjuvant DDS.
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Adjuvantes Imunológicos , Vacinas Anticâncer , Nanotecnologia , Neoplasias , Vacinas de mRNA , Humanos , Vacinas Anticâncer/imunologia , Nanotecnologia/métodos , Neoplasias/terapia , Neoplasias/imunologia , Animais , Sistemas de Liberação de Medicamentos/métodos , COVID-19/prevenção & controle , Adjuvantes de Vacinas , RNA Mensageiro/genética , SARS-CoV-2/imunologia , Vacinas Sintéticas/imunologiaRESUMO
BACKGROUND: There is a scarcity of studies that quantitatively assess the difficulty and importance of knowledge points (KPs) depending on students' self-efficacy for learning (SEL). This study aims to validate the practical application of psychological measurement tools in physical therapy education by analyzing student SEL and course conceptual structure. METHODS: From the "Therapeutic Exercise" course curriculum, we extracted 100 KPs and administered a difficulty rating questionnaire to 218 students post-final exam. The pipeline of the non-parametric Item Response Theory (IRT) and parametric IRT modeling was employed to estimate student SEL and describe the hierarchy of KPs in terms of item difficulty. Additionally, Gaussian Graphical Models with Non-Convex Penalties were deployed to create a Knowledge Graph (KG) and identify the main components. A visual analytics approach was then proposed to understand the correlation and difficulty level of KPs. RESULTS: We identified 50 KPs to create the Mokken scale, which exhibited high reliability (Cronbach's alpha = 0.9675) with no gender bias at the overall or at each item level (p > 0.05). The three-parameter logistic model (3PLM) demonstrated good fitness with questionnaire data, whose Root Mean Square Error Approximation was < 0.05. Also, item-model fitness unveiled good fitness, as indicated by each item with non-significant p-values for chi-square tests. The Wright map revealed item difficulty relative to SEL levels. SEL estimated by the 3PLM correlated significantly with the high-ability range of average Grade-Point Average (p < 0.05). The KG backbone structure consisted of 58 KPs, with 29 KPs overlapping with the Mokken scale. Visual analysis of the KG backbone structure revealed that the difficulty level of KPs in the IRT could not replace their position parameters in the KG. CONCLUSION: The IRT and KG methods utilized in this study offer distinct perspectives for visualizing hierarchical relationships and correlations among the KPs. Based on real-world teaching empirical data, this study helps to provide a research foundation for updating course contents and customizing learning objectives. TRIAL REGISTRATION: Not applicable.
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Currículo , Avaliação Educacional , Autoeficácia , Humanos , Feminino , Masculino , Inquéritos e Questionários , Especialidade de Fisioterapia/educação , Reprodutibilidade dos TestesRESUMO
We aimed to identify serum exosomal microRNAs (miRNAs) associated with the transition from atrial fibrillation (AF) to sinus rhythm (SR) and investigate their potential as biomarkers for the early recurrence of AF within three months post-treatment. We collected blood samples from eight AF patients at Chang Gung Memorial Hospital in Taiwan both immediately before and within 14 days following rhythm control treatment. Exosomes were isolated from these samples, and small RNA sequencing was performed. Using DESeq2 analysis, we identified nine miRNAs (16-2-3p, 22-3p, 23a-3p, 23b-3p, 125a-5p, 328-3p, 423-5p, 504-5p, and 582-3p) associated with restoration to SR. Further analysis using the DIABLO model revealed a correlation between the decreased expression of miR-125a-5p and miR-328-3p and the early recurrence of AF. Furthermore, early recurrence is associated with a longer duration of AF, presumably indicating a more extensive state of underlying cardiac remodeling. In addition, the reads were mapped to mRNA sequences, leading to the identification of 14 mRNAs (AC005041.1, ARHGEF12, AMT, ANO8, BCL11A, DIO3OS, EIF4ENIF1, G2E3-AS1, HERC3, LARS, NT5E, PITX1, SLC16A12, and ZBTB21) associated with restoration to SR. Monitoring these serum exosomal miRNA and mRNA expression patterns may be beneficial for optimizing treatment outcomes in AF patients.
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Fibrilação Atrial , Exossomos , MicroRNAs , Humanos , Fibrilação Atrial/genética , MicroRNAs/genética , Coração , Exossomos/genética , RNA Mensageiro , AnoctaminasAssuntos
Extremidades , Sarcoma , Humanos , Sarcoma/cirurgia , Sarcoma/mortalidade , Sarcoma/patologia , Extremidades/cirurgia , Extremidades/patologia , Taxa de Sobrevida , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Recidiva Local de Neoplasia/mortalidade , Prognóstico , Tronco/cirurgia , Populações Vulneráveis , Neoplasias de Tecidos Moles/cirurgia , Neoplasias de Tecidos Moles/mortalidade , Neoplasias de Tecidos Moles/patologiaRESUMO
Thanks to its powerful ability to depict high-resolution anatomical information, magnetic resonance imaging (MRI) has become an essential non-invasive scanning technique in clinical practice. However, excessive acquisition time often leads to the degradation of image quality and psychological discomfort among subjects, hindering its further popularization. Besides reconstructing images from the undersampled protocol itself, multi-contrast MRI protocols bring promising solutions by leveraging additional morphological priors for the target modality. Nevertheless, previous multi-contrast techniques mainly adopt a simple fusion mechanism that inevitably ignores valuable knowledge. In this work, we propose a novel multi-contrast complementary information aggregation network named MCCA, aiming to exploit available complementary representations fully to reconstruct the undersampled modality. Specifically, a multi-scale feature fusion mechanism has been introduced to incorporate complementary-transferable knowledge into the target modality. Moreover, a hybrid convolution transformer block was developed to extract global-local context dependencies simultaneously, which combines the advantages of CNNs while maintaining the merits of Transformers. Compared to existing MRI reconstruction methods, the proposed method has demonstrated its superiority through extensive experiments on different datasets under different acceleration factors and undersampling patterns.
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Fontes de Energia Elétrica , Processamento de Imagem Assistida por Computador , Humanos , Conhecimento , Imageamento por Ressonância MagnéticaRESUMO
Super-resolving the magnetic resonance (MR) image of a target contrast under the guidance of the corresponding auxiliary contrast, which provides additional anatomical information, is a new and effective solution for fast MR imaging. However, current multi-contrast super-resolution (SR) methods tend to concatenate different contrasts directly, ignoring their relationships in different clues, e.g., in the high-and low-intensity regions. In this study, we propose a separable attention network (comprising high-intensity priority (HP) attention and low-intensity separation (LS) attention), named SANet. Our SANet could explore the areas of high-and low-intensity regions in the "forward" and "reverse" directions with the help of the auxiliary contrast while learning clearer anatomical structure and edge information for the SR of a target-contrast MR image. SANet provides three appealing benefits: First, it is the first model to explore a separable attention mechanism that uses the auxiliary contrast to predict the high-and low-intensity regions, diverting more attention to refining any uncertain details between these regions and correcting the fine areas in the reconstructed results. Second, a multistage integration module is proposed to learn the response of multi-contrast fusion at multiple stages, get the dependency between the fused representations, and boost their representation ability. Third, extensive experiments with various state-of-the-art multi-contrast SR methods on fastMRI and clinical in vivo datasets demonstrate the superiority of our model. The code is released at https://github.com/chunmeifeng/SANet.
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Interfacial Dzyaloshinskii-Moriya interaction (i-DMI) exists in the film materials with inversion symmetry breaking, which can stabilize a series of nonlinear spin structures and control their chirality, such as Néel-type domain wall, magnetic skyrmion and spin spiral. In addition, the strength and chirality of i-DMI are directly related to the dynamic behavior of these nonlinear spin structures. Therefore, regulating the strength and chirality of i-DMI not only has an important scientific significance for enriching spintronics and topological physics, but also has a significant practical value for constructing a new generation of memorizer, logic gate, and brain-like devices with low-power. This review summarizes the research progress on the regulation of i-DMI in ferromagnetic films and provides some prospects for future research.
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Social interactions are inevitable in the lives of most animals, since most essential behaviours require interaction with conspecifics, such as mating and competing for resources. Non-avian reptiles are typically viewed as solitary animals that predominantly use their vision and olfaction to communicate with conspecifics. Nevertheless, in recent years, evidence is mounting that some reptiles can produce sounds and have the potential for acoustic communication. Reptiles that can produce sound have an additional communicative channel (in addition to visual/olfactory channels), which could suggest they have a higher communicative complexity, the evolution of which is assumed to be driven by the need of social interactions. Thus, acoustic reptiles may provide an opportunity to unveil the true social complexity of reptiles that are usually thought of as solitary. This review aims to reveal the hidden social interactions behind the use of sounds in non-avian reptiles. Our review suggests that the potential of vocal and acoustic communication and the complexity of social interactions may be underestimated in non-avian reptiles, and that acoustic reptiles may provide a great opportunity to uncover the coevolution between sociality and communication in non-avian reptiles. This article is part of the theme issue 'The power of sound: unravelling how acoustic communication shapes group dynamics'.
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Répteis , Comportamento Social , Vocalização Animal , Animais , Répteis/fisiologia , Vocalização Animal/fisiologia , Comunicação AnimalRESUMO
This study aimed to investigate the diagnostic value of combined echocardiography and residual cholesterol in asymptomatic myocardial ischaemia. One hundred and fifty-seven patients were seen at Hefei BOE Hospital from 2019 to 2022. The patients were divided into two groups, the observation group (n=90, confirmed asymptomatic myocardial ischaemia) and the control group (n=67, negative diagnosis), based on coronary angiography. The observation group had significantly higher residual cholesterol levels (p=0.001). A combined approach of echocardiography and serum residual cholesterol values showed statistically higher accuracy (p<0.05), with ROC curve analysis supporting the superiority of this method [AUC 0.788 (0.711-0.865), Yoden index 0.576]. It also demonstrated higher sensitivity (88.9%) and specificity (68.7%). The study concluded that combined echocardiography and serum residual cholesterol testing offer superior diagnostic efficacy and practicality for asymptomatic myocardial ischaemia, recommending it for the clinical use. Key Words: Echocardiography, Residual cholesterol, Asymptomatic myocardial ischaemia, Diagnosis.
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Doença da Artéria Coronariana , Humanos , Doença da Artéria Coronariana/diagnóstico por imagem , Angiografia Coronária , Colesterol , Ecocardiografia , HospitaisRESUMO
BACKGROUND: The International Classification of Functioning, Disability and Health (ICF) offers a standardized international terminology to operationalize function management across multiple domains, but the summary score of the ICF qualifier scale provides limited information on the comparison of personal abilities and functioning difficulties. OBJECTIVES: To enhance the interpretative power of the ICF-based Health-oriented Personal Evaluation for the community-dwelling older person (iHOPE-OP) scale through the implementation of the item response theory (IRT) modelling. METHODS: This cross-sectional, multi-centre study administrated 161 ICF categories (58 on body functions, 15 on body structures, 60 on activities or participation and 28 on environmental factors) to evaluate the functional level of 338 older citizens (female = 158, male = 180) residing in community or supportive living facilities. The validation process encompassed assessing the IRT model fitness and evaluating the psychometric properties of the IRT-derived iHOPE-OP scale. RESULTS: The age of participants ranged from 60 to 94.57, with the mean age of 70. The analysis of non-parametric and parametric models revealed that the three-parameter logistic IRT model, with a dichotomous scoring principle, exhibited the best fit. The 53-item iHOPE-OP scale demonstrated high reliability (Cronbach's α = 0.9729, Guttman's lambda-2 = 0.9749, Molenaar-Sijtsma Statistic = 0.9803, latent class reliability coefficient = 0.9882). There was a good validity between person abilities and the Barthel Index (p < .001, r = .83), as well as instrumental activities of daily living (p < .001, r = .84). CONCLUSIONS: IRT methods generate the reliable and valid iHOPE-OP scale with the most discriminable and minimal items to represent the older person's functional performance at a comprehensive level. The use of the Wright map can aid in presby-functioning management by visualizing item difficulties and person abilities. IMPLICATIONS FOR PRACTICE: Considering the intricate and heterogeneous health status of older persons, a single functional assessment tool might not fulfil the need to fully understand the multifaceted health status. For use in conjunction with the IRT and ICF framework, the reliable and valid iHOPE-OP scale was developed and can be applied to capture presby-functioning. The Wright map depicts the distribution of item difficulties and person abilities on the same scale that facilitates person-centred goal setting and tailors intervention.
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Atividades Cotidianas , Vida Independente , Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Avaliação da Deficiência , Estudos Transversais , Reprodutibilidade dos TestesRESUMO
AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia. METHODS: Eleven family members with and without atypical aniridia were recruited. All family members underwent comprehensive ophthalmic examinations. A combination of whole exome sequencing (WES) and direct Sanger sequencing were performed to uncover the causative mutation. RESULTS: Among the 11 family members, 8 were clinically diagnosed with congenital aniridia (atypical aniridia phenotype). A rare heterozygous mutation c.622C>T (p.Arg208Trp) in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects. CONCLUSION: A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia. This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia, which may also contribute to genetic counselling and family planning.
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BACKGROUND: Cervical intraepithelial neoplasia (CIN) is an important precursor of cervical cancer. Early detection and treatment can reduce the incidence of cervical cancer. AIM: To investigate the detection rate of human papillomavirus (HPV) E6/E7 mRNA in cervical tissue of patients with different types of epithelial cell neoplasia (CIN) and its relationship with CIN progression and diagnosis. METHODS: One hundred women with HPV infection detected by cervical exfoliation cytology between January 2022 and January 2023 were retrospectively selected. These patients were graded CIN based on colposcopy and cervical pathology. The positive expression rates of HPV E6/E7 mRNA and HPV [polymerase chain reaction (PCR)-reverse dot crossing] were compared among all groups. Patients with HPV E6/E7 mRNA expression in the grade 1 CIN group were followed up for 1 yr. The relationship between atypical squamous epithelium and high malignant epithelial neoplasia was investigated by univariate and multivariate analysis. RESULTS: The diagnostic sensitivity, specificity, and sensitivity of PCR-reverse point hybridization technology for secondary CIN were 70.41%, 70.66%, and 0.714, respectively. Sensitivity and specificity for secondary CIN were 752% and 7853%, respectively, the area under the curve value was 0.789. Logistic Multifactorial model analysis revealed that the HPV positive rates and the HPV E6/E7 mRNA positive rates were independent risk factors of CIN grade I (P < 0.05). In CIN grade I patients with positive for HPV E6/E7 mRNA, in its orientation to grade CIN patients, in its orientation to grade CIN patients, at 69.2%, compared with patients negative for HPV E6/E7 mRNA (30.8%), significant difference (P < 0.05). CONCLUSION: HPV E6/E7 mRNA and HPV (PCR-reverse dot hybrid) positive expression have a close relationship with CIN-grade disease progression and is an independent risk factor for high-grade CIN lesions.
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BACKGROUND: Resistance of Helicobacter pylori to many antibiotics, which lowers the efficacy of eradication therapy, is increasingly prevalent. High-dose proton pump inhibitor (PPI)-amoxicillin dual therapy (HDDT) has been used for H. pylori eradication for years, and resistance to amoxicillin is relatively rare. Although many studies have compared the eradication rate of HDDT with that of guideline therapies, the reported efficacy of HDDT varies greatly and is inconsistent. AIMS: This study investigated the eradication rate and adverse effects of HDDT compared with the guidelines at the time of the study. METHODS: Several open public databases, including Cochrane, EMBASE, PubMed, and MEDLINE, were searched. The results of the current literature on the eradication and adverse event rates of HDDT compared with the latest recommended first-line therapies were analysed. Notably, 14 out of the 16 included studies were conducted in Asian regions. RESULTS: The eradication rate of HDDT was lower but not significantly different from those of control therapies (odds ratio [OR] = 0.92, 95% confidence interval [CI] = 0.67-1.26) in the intent-to-treat (ITT) analysis. A similar trend was observed in the per-protocol (PP) analysis (OR = 0.88, 95% CI = 0.47-1.63). Notably, the adverse effect risk in HDDT was significantly lower than in other therapies (I2 = 67.75%, OR = 0.42, 95% CI = 0.33-0.54, P = 0.00004). When the eradication rate of the control group was lower than 81%, HDDT was significantly better than control therapies (OR = 2.44, 95% CI = 1.23-4.84). CONCLUSION: HDDT used four times a day for 14 days showed better efficacy and safety than the guideline treatments for H. pylori infection in areas with high antimicrobial resistance.