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1.
Ecol Evol ; 14(7): e11589, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38979007

RESUMO

Beetles have a remote evolutionary history dating back to the Carboniferous, with Mesozoic fossils playing a pivotal role in elucidating the early evolution of extant families. Despite their exceptional preservation in amber, deciphering the systematic positions of Mesozoic trogossitid-like beetles remains challenging. Here, we describe and illustrate a new trogossitid-like lineage from mid-Cretaceous Kachin amber, Foveapeltis rutai Li, Kolibác, Liu & Cai, gen. et sp. nov. Foveapeltis stands out within the Cleroidea due to the presence of a significant large cavity on each hypomeron. While the exact phylogenetic placement of Foveapeltis remains uncertain, we offer a discussion on its potential affinity based on our constrained phylogenetic analyses.

2.
Brain Commun ; 6(4): fcae217, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38961870

RESUMO

There is an obvious clinical-pathological overlap between essential tremor and some known tremor-associated short tandem repeat expansion disorders. The aim is to analyse whether these short tandem repeat genes, including ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8OS, ATXN10, PPP2R2B, TBP, BEAN1, NOP56, DAB1, ATN1, SADM12 and FMR1, are associated with familial essential tremor patients. Genetic analysis of repeat sizes in tremor-associated short tandem repeat expansions was performed in a large cohort of 515 familial essential tremor probands and 300 controls. The demographic and clinical features among carriers of pathogenic expansions, intermediate repeats and non-carriers were compared. A total of 18 out of 515 (18/515, 3.7%) patients were found to have repeats expansions, including 12 cases (12/515, 2.5%) with intermediate repeat expansions (one ATXN1, eight TBP, two FMR1, one ATN1), and six cases (6/515, 1.2%) with pathogenic expansions (one ATXN1, one ATXN2, one ATXN8OS, one PPP2R2B, one FMR1, one SAMD12). There were no statistically significant differences in intermediate repeats compared to healthy controls. Furthermore, there were no significant differences in demographics and clinical features among individuals with pathogenic expansions, intermediate repeat expansions carriers and non-carriers. Our study indicates that the intermediate repeat expansion in tremor-associated short tandem repeat expansions does not pose an increased risk for essential tremor, and rare pathogenic expansion carriers have been found in the familial essential tremor cohort. The diagnosis of essential tremor based solely on clinical symptoms remains a challenge in distinguishing it from known short tandem repeat expansions diseases with overlapping clinical-pathological features.

3.
Materials (Basel) ; 17(13)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38998301

RESUMO

Based on 3D printing technology, this paper investigates the effects of the printing process and reinforcement materials on the performance of 3D-printed glass bead insulation mortar. In order to improve and enhance the performance of the mortar, two sets of tests were designed for research and analysis. Firstly, by changing the direction of the interlayer printing strips, the anisotropy of the specimens in different paths was analyzed, and then the effect of different dosages of different fibers on the performance of 3D-printed glass bead insulation mortar was investigated by adding reinforcing materials. The results show that the path a specimen in the X direction's compressive strength is the best; in the Y direction, flexural strength is the best; the path b specimen in the Y direction's compressive strength is the best; in the Z direction, flexural strength is the best, but the compressive and flexural strengths are lower than the strength of the specimen without 3D printing (cast-in-place specimen); and adding reinforcing materials mortar not only has high strength but also has good printability and excellent thermal insulation. This paper provides a theoretical basis and reference value for the popularization and application of 3D printing thermal insulation mortar technology.

4.
Zookeys ; 1202: 329-341, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38836190

RESUMO

A contribution to the knowledge of the malachiine genus Intybia Pascoe, 1866 from China is given. Two new species groups: Intybiaklapperichi group and Intybiaeversi group are defined and described. A new species, Intybiahainanensis Wang & Liu, sp. nov., of the Intybiaklapperichi group is described from Hainan Province. Intybiaerectodentatus (Wittmer, 1982) and Intybiaconcha Asano, 2015 are redescribed based on new materials collected in mainland China. A key to species groups of the genus Intybia Pascoe, 1866 in China is provided.

5.
Cancer Med ; 13(12): e7353, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38888362

RESUMO

INTRODUCTION: Penile cancer (PC) is a lethal malignancy with no effective prognostic biomarker. We aim to investigate associations between trajectories of squamous cell carcinoma antigen (SCC-A) and patient outcomes after chemotherapy based on paclitaxel, ifosfamid, and cisplatin (TIP) regimen. METHODS: Consecutive AJCC staging III/IV PC patients who received TIP chemotherapy and repeated SCC-A measurements in 2014-2022 were analyzed. Latent class growth mixed (LCGM) models were employed to characterize patients' serum SCC-A trajectories. Patient survival, and clinical and pathological tumor responses were compared. Inverse probability treatment weighting was used to adjust confounding factors. RESULTS: Eighty patients were included. LCGM models identified two distinct trajectories of SCC-A: low-stable (40%; n = 32) and high-decline (60%; n = 48). Overall survival (HR [95% CI]: 3.60 [1.23-10.53], p = 0.019), progression-free survival (HR [95% CI]: 11.33 [3.19-40.3], p < 0.001), objective response rate (37.5% vs. 62.5% p = 0.028), disease control rate (60.4% vs. 96.9% p < 0.00), and pathological complete response rate (21.2% vs. 51.9%, p = 0.014) were significantly worse in the high-decline arm. CONCLUSION: PC patients' SCC-A change rate was associated with tumor response and patient survival after TIP chemotherapy. SCC-A might assist tumor monitoring after systemic therapies.


Assuntos
Antígenos de Neoplasias , Protocolos de Quimioterapia Combinada Antineoplásica , Cisplatino , Paclitaxel , Neoplasias Penianas , Serpinas , Humanos , Masculino , Neoplasias Penianas/tratamento farmacológico , Neoplasias Penianas/sangue , Neoplasias Penianas/mortalidade , Neoplasias Penianas/patologia , Pessoa de Meia-Idade , Antígenos de Neoplasias/sangue , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Paclitaxel/administração & dosagem , Paclitaxel/uso terapêutico , Cisplatino/uso terapêutico , Cisplatino/administração & dosagem , Serpinas/sangue , Idoso , Estadiamento de Neoplasias , Biomarcadores Tumorais/sangue , Prognóstico , Estudos Retrospectivos , Adulto
6.
Cancer Treat Rev ; 129: 102787, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38905806

RESUMO

BACKGROUND: This study aimed to summarize the occurrence of immune-related adverse events (irAEs) and further evaluate their association with clinical outcomes in patients with advanced renal cell carcinoma (RCC) and urothelial carcinoma (UC) treated with immune checkpoint inhibitors (ICIs). METHODS: A comprehensive search of PubMed, Embase, and the Cochrane Library up to December 2023 was conducted to identify eligible studies. The details of irAEs and data regarding their correlation with clinical outcomes were extracted. R software was used for meta-analysis. RESULTS: A total of 27 studies involving 6148 patients with RCC or UC were included. The pooled overall incidence for any-grade and grade ≥ 3 irAEs was 44.2 % (95 % CI: 38.1 %-50.5 %) and 15.7 % (95 % CI: 11.4 %-21.1 %), respectively. Compared to those without any irAEs, patients with irAEs showed improved PFS (HR = 0.44, 95 % CI: 0.35-0.56, p < 0.01) and OS (HR = 0.47, 95 % CI: 0.42-0.51, p < 0.01), as well as higher ORR (OR = 3.59, 95 % CI: 3.01-4.29, p < 0.01) and DCR (OR = 4.23, 95 % CI: 3.06-5.84, p < 0.01). Subgroup analysis indicated that clinical outcome improvements were associated with the occurrence of irAEs, regardless of tumor type or ICI agent. Notably, patients with cutaneous irAEs, thyroid dysfunction, and grade ≤ 2 irAEs had a higher probability to achieve better survival benefits from ICI-based therapy, while pulmonary irAEs and grade ≥ 3 irAEs seemed to have a negative impact on OS. Additionally, systemic glucocorticoids administration did not affect survival outcomes. CONCLUSION: Our findings suggest that the occurrence of irAEs could be considered as a potential prognostic factor for predicting the efficacy of ICIs in patients with advanced RCC and UC.

7.
BMC Med Educ ; 24(1): 680, 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38902673

RESUMO

BACKGROUND: Blended learning comprised with flipped classroom (FC) and "internet plus" is a new learning strategy that reverses the position of teacher and students in class, and provides abundant learning resources before and after class. This study aimed to assess the impact of blended learning on learning outcomes in evidence-based medicine course, and compare with traditional learning method. METHODS: The participants of the two groups were from two difference cohorts in Air force medical university in China. The two groups toke the same pre-test before class and then were given the teaching of same chapters of evidence-based medicine with two different learning strategy. In the blended learning group, the participants were required to create a debriefing slide about their learning outcomes and the answers of questions given in advance after study the learning material sent by teacher a week before class, and the teacher gave a detailed summary based on the common problems, and distributed multimedia resources for review. After the experiment was carried out, learning outcomes including mastering knowledge, learning satisfaction, and self-evaluation were compared. RESULTS: 37 and 39 participants were enrolled to blended learning and traditional learning groups, respectively, and no statistically significant difference were found in baseline information and pre-test grades. Statistically significant differences were found in learning outcomes including post-test score (t = 2.90, p = 0.005), changes of scores between pre-test and post-test (t = 2.49, p = 0.022), learning satisfaction (t = 12.41, p = 0.001), and self-evaluation of the two groups (t = 7.82, p = 0.001). Especially, the changes of scores between pre-test and post-test of blended learning and traditional learning groups were 4.05 (4.26), and 2.00 (2.85), respectively. CONCLUSIONS: This study showed that compared with traditional learning strategy, blended learning can effectively enhanced participants' acquisition of knowledge, learning satisfaction, and self-evaluation in evidence-based medicine. Using blended learning method including "internet plus" and flipped classroom is recommended in the teaching of evidence-based medicine course.


Assuntos
Avaliação Educacional , Medicina Baseada em Evidências , Humanos , Medicina Baseada em Evidências/educação , China , Currículo , Feminino , Masculino , Aprendizagem Baseada em Problemas/métodos , Estudantes de Medicina/psicologia , Ensino , Aprendizagem , Educação de Graduação em Medicina/métodos
8.
Food Chem ; 457: 140143, 2024 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-38901339

RESUMO

The Hippophae rhamnoides L. pomace was generated in the production process for juice, wine of food industry. To expand the application of pomace, the extraction process optimization, enrichment and identification of triterpene acids were performed in this study. The extraction yield was 14.87% under optimal ultrasound-assisted extraction techniques performed via response surface methodology. The extract was subsequently purified to obtain the triterpenoid acid enrichment fraction (TPF) with the content of 75.23% ± 1.45%. 13 triterpenoid acids were identified via UPLC-Triple-TOF MS/MS and further semi-quantified through comparison with triterpenoid acid standards. TPF exhibited a strong inhibitory effect on α-glucosidase with IC50 value of 5.027 ± 0.375 µg/mL, as determined via enzyme inhibition experiment and molecular docking. Additionally, the TPF significantly reduced postprandial glucose levels, as revealed via carbohydrate tolerance tests, as well as ameliorate serum lipid profiles. Therefore, pomace may be a promising resource of functional food components with therapeutic and commercial values.

9.
Molecules ; 29(11)2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38893331

RESUMO

To realize high-energy-density Li metal batteries at low temperatures, a new electrolyte is needed to solve the high-voltage compatibility and fast lithium-ion de-solvation process. A gel polymer electrolyte with a small-molecular-weight polymer is widely investigated by combining the merits of a solid polymer electrolyte (SPE) and liquid electrolyte (LE). Herein, we present a new gel polymer electrolyte (P-DOL) by the lithium difluoro(oxalate)borate (LiDFOB)-initiated polymerization process using 1,3-dioxolane (DOL) as a monomer solvent. The P-DOL presents excellent ionic conductivity (1.12 × 10-4 S cm-1) at -20 °C, with an oxidation potential of 4.8 V. The Li‖LiCoO2 cell stably cycled at 4.3 V under room temperature, with a discharge capacity of 130 mAh g-1 at 0.5 C and a capacity retention rate of 86.4% after 50 cycles. Moreover, a high-Ni-content LiNi0.8Co0.1Mn0.1O2 (NCM811) cell can steadily run for 120 cycles at -20 °C, with a capacity retention of 88.4%. The underlying mechanism of high-voltage compatibility originates from the dense and robust B- and F-rich cathode interface layer (CEI) formed at the cathode interface. Our report will shed light on the real application of Li metal batteries under all-climate conditions in the future.

10.
Proc Natl Acad Sci U S A ; 121(24): e2319679121, 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38830106

RESUMO

Whole-genome duplication (WGD; i.e., polyploidy) and chromosomal rearrangement (i.e., genome shuffling) significantly influence genome structure and organization. Many polyploids show extensive genome shuffling relative to their pre-WGD ancestors. No reference genome is currently available for Platanaceae (Proteales), one of the sister groups to the core eudicots. Moreover, Platanus × acerifolia (London planetree; Platanaceae) is a widely used street tree. Given the pivotal phylogenetic position of Platanus and its 2-y flowering transition, understanding its flowering-time regulatory mechanism has significant evolutionary implications; however, the impact of Platanus genome evolution on flowering-time genes remains unknown. Here, we assembled a high-quality, chromosome-level reference genome for P. × acerifolia using a phylogeny-based subgenome phasing method. Comparative genomic analyses revealed that P. × acerifolia (2n = 42) is an ancient hexaploid with three subgenomes resulting from two sequential WGD events; Platanus does not seem to share any WGD with other Proteales or with core eudicots. Each P. × acerifolia subgenome is highly similar in structure and content to the reconstructed pre-WGD ancestral eudicot genome without chromosomal rearrangements. The P. × acerifolia genome exhibits karyotypic stasis and gene sub-/neo-functionalization and lacks subgenome dominance. The copy number of flowering-time genes in P. × acerifolia has undergone an expansion compared to other noncore eudicots, mainly via the WGD events. Sub-/neo-functionalization of duplicated genes provided the genetic basis underlying the unique flowering-time regulation in P. × acerifolia. The P. × acerifolia reference genome will greatly expand understanding of the evolution of genome organization, genetic diversity, and flowering-time regulation in angiosperms.


Assuntos
Evolução Molecular , Genoma de Planta , Filogenia , Poliploidia , Cromossomos de Plantas/genética , Duplicação Gênica
11.
Ultrason Sonochem ; 107: 106936, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38834000

RESUMO

This study focuses on developing a water-in-oil-in-water (W1/O/W2) double emulsion system using high-intensity ultrasound (HIU)-treated pea protein isolate (HIU-PPI) and pectin to encapsulate Lactobacillus plantarum (L. plantarum). The effects of ultrasound treatment on pea protein isolate (PPI) characteristics such as solubility, particle size, emulsification, surface hydrophobicity, and surface free sulfhydryl group were examined, determining optimal HIU processing conditions was 400 W for 10 min. The developed W1/O/W2 double emulsion system based on HIU-PPI demonstrated effective encapsulation and protection of L. plantarum, especially at the HIU-PPI concentration of 4 %, achieving an encapsulation efficiency of 52.65 %. Incorporating both HIU-PPI and pectin as emulsifiers increased the particle size and significantly enhanced the emulsion's viscosity. The highest bacterial encapsulation efficiency of the emulsion, 59.94 %, was attained at a HIU to pectin concentration ratio of 3:1. These emulsions effectively encapsulate and protect L. plantarum, with the concentration of HIU-PPI being a critical factor in enhancing probiotic survival under simulated gastrointestinal digestion. However, the concurrent utilization of pectin and HIU-PPI as emulsifiers did not provide a notable advantage compared to the exclusive use of HIU-PPI in enhancing probiotic viability during in vitro simulated digestion. This research offers valuable perspectives for the food industry on harnessing environmentally friendly, plant-based proteins as emulsifiers in probiotic delivery systems. It underscores the potential of HIU-modified pea protein and pectin in developing functional food products that promote the health benefits of probiotics.


Assuntos
Emulsões , Lactobacillus plantarum , Proteínas de Ervilha , Pectinas , Proteínas de Ervilha/química , Pectinas/química , Tamanho da Partícula , Água/química , Ondas Ultrassônicas , Sonicação , Solubilidade , Probióticos/química , Óleos/química , Interações Hidrofóbicas e Hidrofílicas
12.
Clin Genitourin Cancer ; 22(4): 102121, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38834499

RESUMO

INTRODUCTION: It is important to explore strategies reducing the number of SB cores taken to minimize biopsy-related morbidity and patient's discomfort during biopsy. This study aims to optimize prostate biopsy procedures by reducing the number of systematic biopsy (SB) cores while preserving cancer detection rates in the era of combined biopsy. PATIENTS AND METHODS: We prospectively recruited patients with ≥1 magnetic resonance imaging (MRI) lesions and they underwent transperineal combined 12-core SB+3-core targeted prostate biopsy (TB, reference standard). New strategy was defined as a laterally 6-core SB+3-core TB. Patients were served as their own control. Detection rates for overall prostate cancer (PCa) and clinically significant PCa (csPCa) were compared among the standard SB, MRI-TB, 6-core SB +3-core TB, and reference standard. Pathology consistency was assessed using the Kappa test. RESULTS: A total of 204 men were included, of which 111 (54.41%) and 92 (45.10%) harbored overall PCa and csPCa. Referenced combined biopsy detected significantly 6.86% (P = .0005) or 4.90% (P = .0044) more csPCa than performing only SB or 3-core TB, but was comparable to the new biopsy strategy. (45.10% vs. 43.14%, P = .1336) Similar results persisted when limiting patients in biopsy-naïve men or stratified by Prostate Imaging Reporting and Data System scores, PSAD, and index lesion parameters. Additionally, performing 6-core SB+3-core TB demonstrated high consistency with reference standard in grade group distribution (Kappa coefficient: 0.952 for all, 0.961 for biopsy-naïve men) and achieved superior sensitivity of 95.7% (All: 95% CI: 89.2%-99.8%) and 96.9% (Biopsy-naïve: 95% CI: 91.1%-99.7%), respectively. CONCLUSIONS: The 6-core SB+3-core TB approach maintains expected detection rates while reducing the total core count, offering a promising alternative to the reference standard, which may help to tailor transperineal combined biopsy procedures.


Assuntos
Biópsia Guiada por Imagem , Neoplasias da Próstata , Humanos , Masculino , Neoplasias da Próstata/diagnóstico por imagem , Neoplasias da Próstata/patologia , Idoso , Pessoa de Meia-Idade , Biópsia Guiada por Imagem/métodos , Estudos Prospectivos , Biópsia com Agulha de Grande Calibre/métodos , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/normas , Próstata/patologia , Próstata/diagnóstico por imagem , Ultrassonografia de Intervenção/métodos
13.
Mol Cancer ; 23(1): 132, 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38926757

RESUMO

BACKGROUND: TFE3-rearranged renal cell carcinoma (TFE3-rRCC) is a rare but highly heterogeneous renal cell carcinoma (RCC) entity, of which the clinical treatment landscape is largely undefined. This study aims to evaluate and compare the efficacy of different systemic treatments and further explore the molecular correlates. METHODS: Thirty-eight patients with metastatic TFE3-rRCC were enrolled. Main outcomes included progression-free survival (PFS), overall survival, objective response rate (ORR) and disease control rate. RNA sequencing was performed on 32 tumors. RESULTS: Patients receiving first-line immune checkpoint inhibitor (ICI) based combination therapy achieved longer PFS than those treated without ICI (median PFS: 11.5 vs. 5.1 months, P = 0.098). After stratification of fusion partners, the superior efficacy of first-line ICI based combination therapy was predominantly observed in ASPSCR1-TFE3 rRCC (median PFS: not reached vs. 6.5 months, P = 0.01; ORR: 67.5% vs. 10.0%, P = 0.019), but almost not in non-ASPSCR1-TFE3 rRCC. Transcriptomic data revealed enrichment of ECM and collagen-related signaling in ASPSCR1-TFE3 rRCC, which might interfere with the potential efficacy of anti-angiogenic monotherapy. Whereas angiogenesis and immune activities were exclusively enriched in ASPSCR1-TFE3 rRCC and promised the better clinical outcomes with ICI plus tyrosine kinase inhibitor combination therapy. CONCLUSIONS: The current study represents the largest cohort comparing treatment outcomes and investigating molecular correlates of metastatic TFE3-rRCC based on fusion partner stratification. ICI based combination therapy could serve as an effective first-line treatment option for metastatic ASPSCR1-TFE3 rRCC patients. Regarding with other fusion subtypes, further investigations should be performed to explore the molecular mechanisms to propose pointed therapeutic strategy accordingly.


Assuntos
Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos , Carcinoma de Células Renais , Inibidores de Checkpoint Imunológico , Neoplasias Renais , Proteínas de Fusão Oncogênica , Humanos , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Carcinoma de Células Renais/tratamento farmacológico , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/mortalidade , Feminino , Masculino , Pessoa de Meia-Idade , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Renais/mortalidade , Idoso , Inibidores de Checkpoint Imunológico/uso terapêutico , Proteínas de Fusão Oncogênica/genética , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Rearranjo Gênico , Biomarcadores Tumorais/genética , Resultado do Tratamento , Prognóstico , Peptídeos e Proteínas de Sinalização Intracelular/genética
14.
PLoS Negl Trop Dis ; 18(6): e0012235, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38870200

RESUMO

BACKGROUND: Schistosomiasis japonica represents a significant public health concern in South Asia. There is an urgent need to optimize existing schistosomiasis diagnostic techniques. This study aims to develop models for the different stages of liver fibrosis caused by Schistosoma infection utilizing ultrasound radiomics and machine learning techniques. METHODS: From 2018 to 2022, we retrospectively collected data on 1,531 patients and 5,671 B-mode ultrasound images from the Second People's Hospital of Duchang City, Jiangxi Province, China. The datasets were screened based on inclusion and exclusion criteria suitable for radiomics models. Liver fibrosis due to Schistosoma infection (LFSI) was categorized into four stages: grade 0, grade 1, grade 2, and grade 3. The data were divided into six binary classification problems, such as group 1 (grade 0 vs. grade 1) and group 2 (grade 0 vs. grade 2). Key radiomic features were extracted using Pyradiomics, the Mann-Whitney U test, and the Least Absolute Shrinkage and Selection Operator (LASSO). Machine learning models were constructed using Support Vector Machine (SVM), and the contribution of different features in the model was described by applying Shapley Additive Explanations (SHAP). RESULTS: This study ultimately included 1,388 patients and their corresponding images. A total of 851 radiomics features were extracted for each binary classification problems. Following feature selection, 18 to 76 features were retained from each groups. The area under the receiver operating characteristic curve (AUC) for the validation cohorts was 0.834 (95% CI: 0.779-0.885) for the LFSI grade 0 vs. LFSI grade 1, 0.771 (95% CI: 0.713-0.835) for LFSI grade 1 vs. LFSI grade 2, and 0.830 (95% CI: 0.762-0.885) for LFSI grade 2 vs. LFSI grade 3. CONCLUSION: Machine learning models based on ultrasound radiomics are feasible for classifying different stages of liver fibrosis caused by Schistosoma infection.


Assuntos
Estudos de Viabilidade , Cirrose Hepática , Schistosoma japonicum , Esquistossomose Japônica , Ultrassonografia , Humanos , Esquistossomose Japônica/diagnóstico por imagem , Ultrassonografia/métodos , Masculino , Cirrose Hepática/diagnóstico por imagem , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Adulto , Schistosoma japonicum/classificação , Schistosoma japonicum/isolamento & purificação , China , Animais , Aprendizado de Máquina , Máquina de Vetores de Suporte , Idoso , Adulto Jovem , Adolescente , Fígado/diagnóstico por imagem , Fígado/parasitologia , Fígado/patologia , Radiômica
15.
Int J Lab Hematol ; 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38822505

RESUMO

INTRODUCTION: The global burden of multiple myeloma (MM) is increasing every year. Here, we have developed machine learning models to provide a reference for the early detection of MM. METHODS: A total of 465 patients and 150 healthy controls were enrolled in this retrospective study. Based on the variable screening strategy of least absolute shrinkage and selection operator (LASSO), three prediction models, logistic regression (LR), support vector machine (SVM), and random forest (RF), were established combining complete blood count (CBC) and cell population data (CPD) parameters in the training set (210 cases), and were verified in the validation set (90 cases) and test set (165 cases). The performance of each model was analyzed using receiver operating characteristic (ROC) curve, calibration curves, and decision curve analysis (DCA). Accuracy, sensitivity, specificity, positive predictive value, negative predictive value, and area under the ROC curve (AUC) were applied to evaluate the models. Delong test was used to compare the AUC of the models. RESULTS: Six parameters including RBC (1012/L), RDW-CV (%), IG (%), NE-WZ, LY-WX, and LY-WZ were screened out by LASSO to construct the model. Among the three models, the AUC of RF model in the training set, validation set, and test set were 0.956, 0.892, and 0.875, which were higher than those of LR model (0.901, 0.849, and 0.858) and SVM model (0.929, 0.868, and 0.846). Delong test showed that there were significant differences among the models in the training set, no significant differences in the validation set, and significant differences only between SVM and RF models in the test set. The calibration curve and DCA showed that the three models had good validity and feasibility, and the RF model performed best. CONCLUSION: The proposed RF model may be a useful auxiliary tool for rapid screening of MM patients.

17.
Arab J Gastroenterol ; 25(2): 125-128, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38705812

RESUMO

BACKGROUND AND STUDY AIMS: There are limited data regarding indeterminate acute liver failure (ALF). The study aims to perform a post hoc analysis using genetic methods for the ALF cases with indeterminate etiology. PATIENTS AND METHODS: Stored blood samples from these patients with indeterminate ALF were collected. Whole-exome sequencing (WES) was used to evaluate the pathogenesis of indeterminate ALF. RESULTS: A total of 16 samples from 11 adult patients and 5 pediatric patients with indeterminate ALF were available. Among the adult patients, one female patient was identified with two heterozygous variants (c.2333G > T (p.Arg778Leu) and c.2310C > G (p.Leu770 = )) in the adenosine triphosphatase copper-transporting beta (ATP7B) gene, and two male patients were found to harbor heterozygous and homozygous variants (c.686C > A (p.Pro229Gln) plus homozygousvariantA(TA)6TAAinsTA (-), andc.1456 T > G (p.Tyr486Asp) plus c.211G > A (p.Gly71Arg)) in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. For the pediatric patients, single heterozygous variant (c.2890C > T (p.Arg964Cys)) in the polymerase gamma (POLG) gene was found in 1 male child, and two heterozygous variants (c.1909A > G (p.Lys637Glu) and c.3646G > A (p.Val1216Ile)) in the tetratricopeptide repeat domain 37 (TTC37) gene were found in 1 female child. No variants clinically associated with known liver diseases were revealed in the remaining patients. CONCLUSION: These results expand the knowledge of ALF with indeterminate etiology. WES is helpful to reveal possible candidate genes for indeterminate ALF, but incomplete consistency between the genotype and phenotype in some cases still challenge the accurate diagnosis.


Assuntos
ATPases Transportadoras de Cobre , Sequenciamento do Exoma , Glucuronosiltransferase , Falência Hepática Aguda , Humanos , Falência Hepática Aguda/genética , Falência Hepática Aguda/diagnóstico , Masculino , Feminino , Adulto , Glucuronosiltransferase/genética , Criança , ATPases Transportadoras de Cobre/genética , Heterozigoto , Adolescente , Pessoa de Meia-Idade , Pré-Escolar , Adulto Jovem , Mutação , Homozigoto
18.
Zookeys ; 1201: 345-356, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38779583

RESUMO

A new genus of malachiine Melyridae, Platyintybiagen. nov., is described based on several male-specific characters, along with description of its type species, Platyintybiazhongshanensissp. nov., from China. A new combination, Platyintybiasarawakensis (Champion, 1921), comb. nov., is proposed after examining the type specimen; this species is newly recorded from China. A key to the genera of Chinese Apalochrini is provided for the first time.

19.
Plant J ; 119(2): 645-657, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38761364

RESUMO

The interplay between microRNAs (miRNAs) and phytohormones allows plants to integrate multiple internal and external signals to optimize their survival of different environmental conditions. Here, we report that miR394 and its target gene LEAF CURLING RESPONSIVENESS (LCR), which are transcriptionally responsive to BR, participate in BR signaling to regulate hypocotyl elongation in Arabidopsis thaliana. Phenotypic analysis of various transgenic and mutant lines revealed that miR394 negatively regulates BR signaling during hypocotyl elongation, whereas LCR positively regulates this process. Genetically, miR394 functions upstream of BRASSINOSTEROID INSENSITIVE2 (BIN2), BRASSINAZOLEs RESISTANT1 (BZR1), and BRI1-EMS-SUPPRESSOR1 (BES1), but interacts with BRASSINOSTEROID INSENSITIVE1 (BRI1) and BRI1 SUPRESSOR PROTEIN (BSU1). RNA-sequencing analysis suggested that miR394 inhibits BR signaling through BIN2, as miR394 regulates a significant number of genes in common with BIN2. Additionally, miR394 increases the accumulation of BIN2 but decreases the accumulation of BZR1 and BES1, which are phosphorylated by BIN2. MiR394 also represses the transcription of PACLOBUTRAZOL RESISTANCE1/5/6 and EXPANSIN8, key genes that regulate hypocotyl elongation and are targets of BZR1/BES1. These findings reveal a new role for a miRNA in BR signaling in Arabidopsis.


Assuntos
Proteínas de Arabidopsis , Arabidopsis , Brassinosteroides , Regulação da Expressão Gênica de Plantas , Hipocótilo , MicroRNAs , Transdução de Sinais , Arabidopsis/genética , Arabidopsis/crescimento & desenvolvimento , Arabidopsis/metabolismo , MicroRNAs/genética , MicroRNAs/metabolismo , Brassinosteroides/metabolismo , Proteínas de Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Hipocótilo/crescimento & desenvolvimento , Hipocótilo/genética , Hipocótilo/metabolismo , Plantas Geneticamente Modificadas , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Proteínas Nucleares/metabolismo , Proteínas Nucleares/genética , Reguladores de Crescimento de Plantas/metabolismo , Proteínas Quinases
20.
Artigo em Inglês | MEDLINE | ID: mdl-38737298

RESUMO

Background: Parkinson's disease (PD) and Essential tremor (ET) are the two most common tremor diseases with recognized genetic pathogenesis. The overlapping clinical features suggest they may share genetic predispositions. Our previous study systematically investigated the association between rare coding variants in ET-associated genes and early-onset PD (EOPD), and found the suggestive association between teneurin transmembrane protein 4 (TENM4) and EOPD. In the current research, we explored the potential genetic interplay between ET-associated genetic loci/genes and sporadic late-onset PD (LOPD). Methods: We performed whole-genome sequencing in the 1962 sporadic LOPD cases and 1279 controls from mainland China. We first used logistic regression analysis to test the top 16 SNPs identified by the ET genome-wide association study for the association between ET and LOPD. Then we applied the optimized sequence kernel association testing to explore the rare variant burden of 33 ET-associated genes in this cohort. Results: We did not observe a significant association between the included SNPs with LOPD. We also did not discover a significant burden of rare deleterious variants of ET-associated genes in association with LOPD risk. Conclusion: Our results do not support the role of ET-associated genetic loci and variants in LOPD. Highlights: 1962 cases and 1279 controls were recruited to study the potential genetic interplay between ET-associated genetic loci/variants and sporadic LOPD.No significant association between the ET-associated SNPs and LOPD were observed.No significant burden of rare deleterious variants of ET-associated gene in LOPD risk were found.


Assuntos
Tremor Essencial , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Doença de Parkinson , Polimorfismo de Nucleotídeo Único , Humanos , Tremor Essencial/genética , Doença de Parkinson/genética , Feminino , Masculino , Polimorfismo de Nucleotídeo Único/genética , Idoso , Pessoa de Meia-Idade , Predisposição Genética para Doença/genética , Idade de Início , China , Estudos de Casos e Controles
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