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1.
Plant Cell ; 2024 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-38943676

RESUMEN

The cell wall shapes plant cell morphogenesis and affects the plasticity of organ growth. However, the way in which cell wall establishment is regulated by ethylene remains largely elusive. Here, by analyzing cell wall patterns, cell wall composition and gene expression in rice (Oryza sativa, L.) roots, we found that ethylene induces cell wall thickening and the expression of cell wall synthesis-related genes, including CELLULOSE SYNTHASE-LIKE C1, 2, 7, 9, 10 (OsCSLC1, 2, 7, 9, 10) and CELLULOSE SYNTHASE A3, 4, 7, 9 (OsCESA3, 4, 7, 9). Overexpression and mutant analyses revealed that OsCSLC2 and its homologs function in ethylene-mediated induction of xyloglucan biosynthesis mainly in the cell wall of root epidermal cells. Moreover, OsCESA-catalyzed cellulose deposition in the cell wall was enhanced by ethylene. OsCSLC-mediated xyloglucan biosynthesis likely plays an important role in restricting cell wall extension and cell elongation during the ethylene response in rice roots. Genetically, OsCSLC2 acts downstream of ETHYLENE-INSENSITIVE3-LIKE1 (OsEIL1)-mediated ethylene signaling, and OsCSLC1, 2, 7, 9 are directly activated by OsEIL1. Furthermore, the auxin signaling pathway is synergistically involved in these regulatory processes. These findings link plant hormone signaling with cell wall establishment, broadening our understanding of root growth plasticity in rice and other crops.

2.
New Phytol ; 243(5): 1724-1741, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38509454

RESUMEN

Gene expression is regulated at multiple levels, including RNA processing and DNA methylation/demethylation. How these regulations are controlled remains unclear. Here, through analysis of a suppressor for the OsEIN2 over-expressor, we identified an RNA recognition motif protein SUPPRESSOR OF EIN2 (SOE). SOE is localized in nuclear speckles and interacts with several components of the spliceosome. We find SOE associates with hundreds of targets and directly binds to a DNA glycosylase gene DNG701 pre-mRNA for efficient splicing and stabilization, allowing for subsequent DNG701-mediated DNA demethylation of the transgene promoter for proper gene expression. The V81M substitution in the suppressor mutant protein mSOE impaired its protein stability and binding activity to DNG701 pre-mRNA, leading to transgene silencing. SOE mutation enhances grain size and yield. Haplotype analysis in c. 3000 rice accessions reveals that the haplotype 1 (Hap 1) promoter is associated with high 1000-grain weight, and most of the japonica accessions, but not indica ones, have the Hap 1 elite allele. Our study discovers a novel mechanism for the regulation of gene expression and provides an elite allele for the promotion of yield potentials in rice.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Silenciador del Gen , Oryza , Proteínas de Plantas , Transgenes , Oryza/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Regiones Promotoras Genéticas/genética , Mutación/genética , Dominios Proteicos , Haplotipos/genética , Metilación de ADN/genética , Unión Proteica , Plantas Modificadas Genéticamente , Alelos
3.
World J Surg Oncol ; 22(1): 12, 2024 Jan 06.
Artículo en Inglés | MEDLINE | ID: mdl-38183069

RESUMEN

BACKGROUND: Sentinel lymph node biopsy (SLNB) is the standard of care for axillary staging in early breast cancer patients with low-burden axillary metastasis (≤ 2 positive nodes). This study aimed to determine the diagnostic performances of 18F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) and breast magnetic resonance imaging in detecting axillary lymph node (ALN) metastases and the reliability to predict ALN burden. METHODS: A total of 275 patients with primary operable breast cancer receiving preoperative PET/CT and upfront surgery from January 2001 to December 2022 in a single institution were enrolled. A total of 244 (88.7%) of them also received breast MRI. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of PET/CT and breast MRI were assessed. The predictive values to determine ALN burden were evaluated using radio-histopathological concordance. RESULTS: PET/CT demonstrated a sensitivity of 53.4%, specificity of 82.1%, PPV of 65.5%, NPV of 73.5%, and accuracy of 70.9% for detecting ALN metastasis, and the corresponding values for MRI were 71.8%, 67.8%, 56%, 80.8%, and 69.2%, respectively. Combining PET/CT and MRI showed a significantly higher PPV than MRI (72.7% vs 56% for MRI alone, p = 0.037) and a significantly higher NPV than PET/CT (84% vs 73.5% for PET/CT alone, p = 0.041). For predicting low-burden axillary metastasis (1-2 positive nodes), the PPVs were 35.9% for PET/CT, 36.7% for MRI, and 55% for combined PET/CT and MRI. Regarding patients with 0-2 positive ALNs in imaging, who were indicated for SLNB, the predictive correctness was 96.1% for combined PET/CT and MRI, 95.7% for MRI alone, and 88.6% for PET/CT alone. CONCLUSIONS: PET/CT and breast MRI exhibit high predictive values for identifying low-burden axillary metastasis in patients with operable breast cancer with ≦ 2 positive ALNs on imaging.


Asunto(s)
Neoplasias de la Mama , Biopsia del Ganglio Linfático Centinela , Humanos , Femenino , Tomografía Computarizada por Tomografía de Emisión de Positrones , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/cirugía , Reproducibilidad de los Resultados , Estudios Retrospectivos , Imagen por Resonancia Magnética , Metástasis Linfática , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/cirugía
4.
BMC Emerg Med ; 24(1): 20, 2024 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-38287243

RESUMEN

BACKGROUND: Unscheduled return visits (URVs) to emergency departments (EDs) are used to assess the quality of care in EDs. Machine learning (ML) models can incorporate a wide range of complex predictors to identify high-risk patients and reduce errors to save time and cost. However, the accuracy and practicality of such models are questionable. This review compares the predictive power of multiple ML models and examines the effects of multiple research factors on these models' performance in predicting URVs to EDs. METHODS: We conducted the present scoping review by searching eight databases for data from 2010 to 2023. The criteria focused on eligible articles that used ML to predict ED return visits. The primary outcome was the predictive performances of the ML models, and results were analyzed on the basis of intervals of return visits, patient population, and research scale. RESULTS: A total of 582 articles were identified through the database search, with 14 articles selected for detailed analysis. Logistic regression was the most widely used method; however, eXtreme Gradient Boosting generally exhibited superior performance. Variations in visit interval, target group, and research scale did not significantly affect the predictive power of the models. CONCLUSION: This is the first study to summarize the use of ML for predicting URVs in ED patients. The development of practical ML prediction models for ED URVs is feasible, but improving the accuracy of predicting ED URVs to beyond 0.75 remains a challenge. Including multiple data sources and dimensions is key for enabling ML models to achieve high accuracy; however, such inclusion could be challenging within a limited timeframe. The application of ML models for predicting ED URVs may improve patient safety and reduce medical costs by decreasing the frequency of URVs. Further research is necessary to explore the real-world efficacy of ML models.


Asunto(s)
Aprendizaje Automático , Readmisión del Paciente , Humanos , Servicio de Urgencia en Hospital , Factores de Tiempo , Modelos Logísticos
5.
Arch Suicide Res ; : 1-17, 2024 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-39072760

RESUMEN

OBJECTIVES: Trauma exposure (TE) and cognitive flexibility (CF) are risk factors for self-injurious thoughts and behaviors (SITBs). However, it is unknown whether these risk factors contribute to mechanisms associated with distinct categories of SITBs. The current study examined the potential moderating role of TE in the relationships between CF and multiple SITBs, including active suicidal ideation (SI), passive SI, non-suicidal self-injury (NSSI), and history of suicide attempt (SA), among pre-adolescent children. METHODS: A total of 11,326 children from the Adolescent Brain Cognitive Development study were included in the present study. SITBs and TE were measured by the Kiddy Schedule for Affective Disorder and Schizophrenia (KSADS). CF was measured using the NIH Cognitive Toolbox. RESULTS: Cumulative TE moderated the relationship of CF to active SI. Higher CF was associated with lower odds of current SI in children with a single lifetime TE, but not in children without trauma or with two or more TE. As a main effect, two or more TE predicted higher odds of active SI, passive SI, and lifetime SA, but not NSSI. Higher CF was associated with lower odds of passive SI, with effects not moderated by trauma exposure. CONCLUSION: The current results clarify previously inconsistent findings about the relationship of CF to SI by identifying cumulative TE as a moderator. CF served as a protective factor against SI, but only in children with a single lifetime trauma. Implications for screening and treatment targets of children at risk for distinct categories of SITBs are discussed.

6.
Medicine (Baltimore) ; 103(20): e38114, 2024 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-38758906

RESUMEN

Early identification of the sources of infection in emergency department (ED) patients of sepsis remains challenging. Computed tomography (CT) has the potential to identify sources of infection. This retrospective study aimed to investigate the role of CT in identifying sources of infection in patients with sepsis without obvious infection foci in the ED. A retrospective chart review was conducted on patients with fever and sepsis visiting the ED of Linkou Chang Gung Memorial Hospital between July 1, 2020 and June 30, 2021. Data on patient demographics, vital signs, clinical symptoms, underlying medical conditions, laboratory results, administered interventions, length of hospital stay, and mortality outcomes were collected and analyzed. Of 218 patients included in the study, 139 (63.8%) had positive CT findings. The most common sources of infection detected by CT included liver abscesses, acute pyelonephritis, and cholangitis. Laboratory results showed that patients with positive CT findings had higher white blood cell and absolute neutrophil counts and lower hemoglobin levels. Positive blood culture results were more common in patients with positive CT findings. Additionally, the length of hospital stay was longer in the group with positive CT findings. Multivariate logistic regression analysis revealed that hemoglobin levels and positive blood culture results independently predicted positive CT findings in patients with fever or sepsis without an obvious source of infection. In patients with sepsis with an undetermined infection focus, those presenting with leukocytosis, anemia, and elevated absolute neutrophil counts tended to have positive findings on abdominal CT scans. These patients had high rates of bacteremia and longer lengths of stay. Abdominal CT remains a valuable diagnostic tool for identifying infection sources in carefully selected patients with sepsis of undetermined infection origins.


Asunto(s)
Sepsis , Tomografía Computarizada por Rayos X , Humanos , Masculino , Estudios Retrospectivos , Femenino , Tomografía Computarizada por Rayos X/métodos , Sepsis/diagnóstico por imagen , Persona de Mediana Edad , Anciano , Tiempo de Internación/estadística & datos numéricos , Servicio de Urgencia en Hospital , Absceso Hepático/diagnóstico por imagen , Adulto , Pielonefritis/diagnóstico por imagen , Colangitis/diagnóstico por imagen , Anciano de 80 o más Años , Fiebre de Origen Desconocido/diagnóstico por imagen
7.
Eur J Surg Oncol ; 50(4): 108030, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38402736

RESUMEN

BACKGROUND: In the developmental stage of minimal-accessed nipple-sparing mastectomy (MA-NSM), selecting patients with small to medium-sized breasts was common for better cosmetic outcomes and oncological safety. However, the suitability of MA-NSM for large, ptotic breasts remained uncertain. This retrospective study aim to assess MA-NSM outcomes in patients with large breasts. MATERIALS AND METHODS: This retrospective study included patients receiving conventional NSM (C-NSM) and MA-NSM from January 2011 to September 2022, at a single institution. We analyzed perioperative parameters and clinical outcomes based on breast specimen size, classified as small (≤300 g), medium (>300-450 g), large (>450-600 g), and very large (>600 g). RESULTS: A total of 728 patients was enrolled. C-NSM was performed in 51% (371/728) of cases, while MA-NSM was done in 49% (357/728). The overall complication rate of MA-NSM was comparable to C-NSM (p = 0.573), but severe complications (Clavien-Dindo, CD III) was significantly reported more following C-NSM, regardless of breast size. During a median follow-up of 52 months, no significant difference in oncological outcomes was observed. Comparing MA-NSM and C-NSM outcomes in large-very large breasts (>450 g), MA-NSM demonstrated significantly less blood loss (p = 0.036) and lower incidence of severe complications (CD ≥ III) compared to C-NSM (p = 0.002). CONCLUSION: MA-NSM is feasible for large breasts and offers benefits by reducing blood loss and decreasing the incidence of severe complications (CD ≥ III) in this patient group.


Asunto(s)
Neoplasias de la Mama , Mamoplastia , Procedimientos Quirúrgicos Robotizados , Humanos , Femenino , Mastectomía , Estudios Retrospectivos , Pezones/cirugía , Neoplasias de la Mama/cirugía
8.
Surg Oncol ; 53: 102048, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38412756

RESUMEN

BACKGROUND: Minimal-access (endoscopic or robotic-assisted) breast surgery has been increasingly performed and shown better cosmetic results. However, location of totally implantable venous access port (TIVAP) for systemic treatment at anterior chest may compromise its aesthetic benefits. Therefore, we proposed a new scarless technique for TIVAP implantation, and reported the preliminary results, learning curve, and patients-surveyed outcome. METHODS: Surgical technique of the new "scarless" TIVAP implantation was proposed. Patients receiving this procedure in a single institution were included. The preliminary results of the scarless TIVAP implantation, learning curve, and patient-reported outcome were analyzed and reported. RESULTS: A total of 125 breast cancer patients received scarless TIVAP procedures were enrolled. The primary success rate of the scarless TIVAP implantation was 100%. Mean operative time was 46 ± 14 min. Mean amount of blood loss was 8.5 ± 3.2 ml. The cumulative sum plot showed operation time significantly decreased after 24th cases. In the initial learning phase, the mean operative time was 55 ± 17 min, and decreased to 43 ± 12 min in the later mature phase (P = 0.003). There were 5 (4%) complications detected, which included 1 (0.8%) seroma formation, 2 (1.6%) revisions, and 2 (1.6%) unplanned explantations. From patients-evaluated questionnaires, more than 90% of responders were satisfied with aesthetic results, experience during surgery, and application of scarless TIVAP for systemic therapy. CONCLUSIONS: The scarless TIVAP implantation is a safe & reliable procedure with high patients-reported aesthetic satisfaction, and could be an alternative TIVAP procedure for patients requiring chemotherapy and desiring a less noticeable scar.


Asunto(s)
Neoplasias de la Mama , Cateterismo Venoso Central , Humanos , Femenino , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/cirugía , Cateterismo Venoso Central/efectos adversos , Curva de Aprendizaje , Endoscopía , Medición de Resultados Informados por el Paciente , Catéteres de Permanencia/efectos adversos
9.
Medicine (Baltimore) ; 103(6): e35047, 2024 Feb 09.
Artículo en Inglés | MEDLINE | ID: mdl-38335393

RESUMEN

OBJECTIVE: The objective of this study was to investigate the global research trends in herbal medicine for the treatment of cardiovascular disease (CVD) from 2000 to 2023. A bibliometric approach was employed to analyze international collaborations, knowledge structures, emerging trends, and research frontiers. METHOD: The Web of Science (WOS) core collection was utilized as the database, employing the search formula (((TS = (traditional Chinese medicine)) OR TS = (Chinese herbal medicinal ingredient)) OR TS = (Chinese herbal medicinal constituent)) AND TS = (cardiovascular disease) to conduct the search. The search period spanned from January 1, 2000, to February 14, 2023, and the literature type included articles and reviews. RESULTS: A total of 1478 papers were included in the analysis after searching the WOS database and excluding conference proceedings, news articles, retractions, editorials, and letters. China demonstrated the highest number of publications, followed by the United States and Taiwan (China). The institution with the highest publications was the Chinese Academy of Medical Sciences. China, the United States, and India were the main countries involved in research in this field, and there was significant collaboration among them. The hotspots related to herbal components for treating cardiovascular diseases from 2000 to 2023 included systematic reviews, ischemic reperfusion injury, global burden, type 2 diabetes, and protection. CONCLUSION: This paper provides a reference for the future development of herbal research in cardiovascular aspects by revealing the current status, hotspots, and trends of global herbal research in cardiovascular factors over more than 20 years. Identification of potential collaborators and institutions can assist researchers in exploring new directions for future research and discovering new perspectives for potential collaborations in this field.


Asunto(s)
Enfermedades Cardiovasculares , Fitoterapia , Humanos , Bibliometría , Enfermedades Cardiovasculares/tratamiento farmacológico
10.
Front Pain Res (Lausanne) ; 5: 1372942, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38721062

RESUMEN

This study investigates the impact of combining psychophysical stress, induced by forced swim (FSS), with masseter inflammation on reactive oxygen species (ROS) production in trigeminal ganglia (TG), TRPA1 upregulation in TG, and mechanical hyperalgesia. In a rat model, we demonstrate that FSS potentiates and prolongs CFA-induced ROS upregulation within TG. The ROS levels in CFA combined with FSS group surpass those in the CFA-only group on days 4 and 28 post-treatment. FSS also enhances TRPA1 upregulation in TG, with prolonged expression compared to CFA alone. Furthermore, CFA-induced mechanical hyperalgesia is significantly prolonged by FSS, persisting up to day 28. PCR array analyses reveal distinct alterations in oxidative stress genes under CFA and CFA combined with FSS conditions, suggesting an intricate regulation of ROS within TG. Notably, genes like Nox4, Hba1, Gpx3, and Duox1 exhibit significant changes, providing potential targets for managing oxidative stress and inflammatory pain. Western blot and immunohistochemistry confirm DUOX1 protein upregulation and localization in TG neurons, indicating a role in ROS generation under inflammatory and stress conditions. This study underscores the complex interplay between psychophysical stress, inflammation, and oxidative stress in the trigeminal system, offering insights into novel therapeutic targets for pain management.

11.
Medicine (Baltimore) ; 103(8): e37220, 2024 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-38394532

RESUMEN

Machine learning (ML) models for predicting 72-hour unscheduled return visits (URVs) for patients with abdominal pain in the emergency department (ED) were developed in a previous study. This study refined the data to adjust previous prediction models and evaluated the model performance in future data validation during the COVID-19 era. We aimed to evaluate the practicality of the ML models and compare the URVs before and during the COVID-19 pandemic. We used electronic health records from Chang Gung Memorial Hospital from 2018 to 2019 as a training dataset, and various machine learning models, including logistic regression (LR), random forest (RF), extreme gradient boosting (XGB), and voting classifier (VC) were developed and subsequently used to validate against the 2020 to 2021 data. The models highlighted several determinants for 72-hour URVs, including patient age, prior ER visits, specific vital signs, and medical interventions. The LR, XGB, and VC models exhibited the same AUC of 0.71 in the testing set, whereas the VC model displayed a higher F1 score (0.21). The XGB model demonstrated the highest specificity (0.99) and precision (0.64) but the lowest sensitivity (0.01). Among these models, the VC model showed the most favorable, balanced, and comprehensive performance. Despite the promising results, the study illuminated challenges in predictive modeling, such as the unforeseen influences of global events, such as the COVID-19 pandemic. These findings not only highlight the significant potential of machine learning in augmenting emergency care but also underline the importance of iterative refinement in response to changing real-world conditions.


Asunto(s)
COVID-19 , Humanos , COVID-19/epidemiología , Pandemias , Estudios Retrospectivos , Servicio de Urgencia en Hospital , Dolor Abdominal , Aprendizaje Automático
12.
J Microbiol Immunol Infect ; 57(1): 76-84, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38135644

RESUMEN

BACKGROUND: Remdesivir has been used to treat severe coronavirus 2019 (COVID-19); however, its safety and effectiveness in patients remain unclear. This study aimed to investigate the safety and effectiveness of remdesivir in patients with COVID-19 with end-stage renal disease (ESRD). METHODS: This retrospective study used the Chang Gung Research Database (CGRD) and extracted data from 21,621 adult patients with COVID-19 diagnosed between April 2021 and September 2022. The patients were divided into groups based on their remdesivir use and the presence of ESRD. The adverse effects of remdesivir and their outcomes were analyzed after propensity score matching. RESULTS: To compare the adverse effects of remdesivir, propensity scores were used for one-to-one matching between patients with and without ESRD treated with remdesivir (N = 110). There were no statistically significant differences in heart rates, blood glucose levels, variations in hemoglobin levels before and after remdesivir use, or liver function between the two groups after remdesivir use. A comparison was made between patients with ESRD using remdesivir and those not using remdesivir after propensity score matching (N = 44). Although a shorter length of stay (LOS), lower intensive care unit (ICU) admission rate, and lower intubation rate were noted in the ESRD group treated with remdesivir, the difference was not statistically significant. CONCLUSION: Remdesivir is safe for use in patients with COVID-19 and ESRD; no increased adverse effects were noted compared with patients without ESRD. However, the effectiveness of remdesivir use in patients with COVID-19 and ESRD remains uncertain.


Asunto(s)
Adenosina Monofosfato/análogos & derivados , Alanina/análogos & derivados , COVID-19 , Fallo Renal Crónico , Adulto , Humanos , Estudios Retrospectivos , Tratamiento Farmacológico de COVID-19 , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/tratamiento farmacológico
13.
Comput Methods Programs Biomed ; 250: 108176, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38677081

RESUMEN

BACKGROUND AND OBJECTIVE: Interleukin-6 (IL-6) is the critical factor of early warning, monitoring, and prognosis in the inflammatory storm of COVID-19 cases. IL-6 inducing peptides, which can induce cytokine IL-6 production, are very important for the development of diagnosis and immunotherapy. Although the existing methods have some success in predicting IL-6 inducing peptides, there is still room for improvement in the performance of these models in practical application. METHODS: In this study, we proposed UsIL-6, a high-performance bioinformatics tool for identifying IL-6 inducing peptides. First, we extracted five groups of physicochemical properties and sequence structural information from IL-6 inducing peptide sequences, and obtained a 636-dimensional feature vector, we also employed NearMiss3 undersampling method and normalization method StandardScaler to process the data. Then, a 40-dimensional optimal feature vector was obtained by Boruta feature selection method. Finally, we combined this feature vector with extreme randomization tree classifier to build the final model UsIL-6. RESULTS: The AUC value of UsIL-6 on the independent test dataset was 0.87, and the BACC value was 0.808, which indicated that UsIL-6 had better performance than the existing methods in IL-6 inducing peptide recognition. CONCLUSIONS: The performance comparison on independent test dataset confirmed that UsIL-6 could achieve the highest performance, best robustness, and most excellent generalization ability. We hope that UsIL-6 will become a valuable method to identify, annotate and characterize new IL-6 inducing peptides.


Asunto(s)
Biología Computacional , Interleucina-6 , Péptidos , Humanos , Péptidos/química , Biología Computacional/métodos , COVID-19 , Algoritmos , Aprendizaje Automático , SARS-CoV-2
14.
Kaohsiung J Med Sci ; 40(8): 744-756, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38923290

RESUMEN

Thyroid dyshormonogenesis (TDH) is responsible for 15%-25% of congenital hypothyroidism (CH) cases. Pathogenetic variants of this common inherited endocrine disorders vary geographically. Unraveling the genetic underpinnings of TDH is essential for genetic counseling and precise therapeutic strategies. This study aims to identify genetic variants associated with TDH in Southern Taiwan using whole exome sequencing (WES). We included CH patients diagnosed through newborn screening at a tertiary medical center from 2011 to 2022. Permanent TDH was determined based on imaging evidence of bilateral thyroid structure and the requirement for continuous medication beyond 3 years of age. Genomic DNA extracted from blood was used for exome library construction, and pathogenic variants were detected using an in-house algorithm. Of the 876 CH patients reviewed, 121 were classified as permanent, with 47 (40%) confirmed as TDH. WES was conducted for 45 patients, and causative variants were identified in 32 patients (71.1%), including DUOX2 (15 cases), TG (8 cases), TSHR (7 cases), TPO (5 cases), and DUOXA2 (1 case). Recurrent variants included DUOX2 c.3329G>A, TSHR c.1349G>A, TG c.1348delT, and TPO c.2268dupT. We identified four novel variants based on genotype, including TSHR c.1135C>T, TSHR c.1349G>C, TG c.2461delA, and TG c.2459T>A. This study underscores the efficacy of WES in providing definitive molecular diagnoses for TDH. Molecular diagnoses are instrumental in genetic counseling, formulating treatment, and developing management strategies. Future research integrating larger population cohorts is vital to further elucidate the genetic landscape of TDH.


Asunto(s)
Hipotiroidismo Congénito , Secuenciación del Exoma , Yoduro Peroxidasa , Receptores de Tirotropina , Humanos , Taiwán , Femenino , Masculino , Hipotiroidismo Congénito/genética , Hipotiroidismo Congénito/diagnóstico , Recién Nacido , Yoduro Peroxidasa/genética , Receptores de Tirotropina/genética , Oxidasas Duales/genética , Tiroglobulina/genética , Proteínas de Unión a Hierro/genética , Preescolar , Variación Genética , Mutación , Disgenesias Tiroideas/genética , Disgenesias Tiroideas/diagnóstico , Lactante , Autoantígenos
15.
ACS Nano ; 2024 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-39141003

RESUMEN

Al impurity is among the most likely components to enter the spent lithium-ion battery (LIB) cathode powder due to the strong adhesion between the cathode material and the Al current collector. However, high-value metal elements tend to be lost during the deep removal of Al impurities to obtain high-purity metal salt products in the conventional hydrometallurgical process. In this work, the harmful Al impurity is designed as a beneficial ingredient to upcycle high-voltage LiCoO2 by incorporating robust Al-O covalent bonds into the bulk of the cathode assisted with Ti modification. Benefiting from the strong Al-O and Ti-O bonds in the bulk, the irreversible phase transitions of the upcycled R-LCO-AT have been significantly suppressed at high voltages, as revealed by in situ XRD. Moreover, a Li+-conductive Li2TiO3 protective layer is constructed on the surface of R-LCO-AT by pinning slow-diffusion Ti on the grain boundaries, resulting in improved Li+ diffusion kinetics and restrained interface side reactions. Consequently, the cycle stability and rate performance of R-LCO-AT were significantly enhanced at a high cutoff voltage of 4.6 V, with a discharge capacity of 189.5 mAhg-1 at 1 C and capacity retention of 92.9% over 100 cycles at 4.6 V. This study utilizes the detrimental impurity element to upcycle high-voltage LCO cathodes through an elaborate bulk/surface structural design, offering a strategy for the high-value utilization of spent LIBs.

16.
Nat Commun ; 15(1): 5987, 2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-39013913

RESUMEN

Ethylene regulates plant growth, development, and stress adaptation. However, the early signaling events following ethylene perception, particularly in the regulation of ethylene receptor/CTRs (CONSTITUTIVE TRIPLE RESPONSE) complex, remains less understood. Here, utilizing the rapid phospho-shift of rice OsCTR2 in response to ethylene as a sensitive readout for signal activation, we revealed that MHZ3, previously identified as a stabilizer of ETHYLENE INSENSITIVE 2 (OsEIN2), is crucial for maintaining OsCTR2 phosphorylation. Genetically, both functional MHZ3 and ethylene receptors prove essential for OsCTR2 phosphorylation. MHZ3 physically interacts with both subfamily I and II ethylene receptors, e.g., OsERS2 and OsETR2 respectively, stabilizing their association with OsCTR2 and thereby maintaining OsCTR2 activity. Ethylene treatment disrupts the interactions within the protein complex MHZ3/receptors/OsCTR2, reducing OsCTR2 phosphorylation and initiating downstream signaling. Our study unveils the dual role of MHZ3 in fine-tuning ethylene signaling activation, providing insights into the initial stages of the ethylene signaling cascade.


Asunto(s)
Etilenos , Regulación de la Expresión Génica de las Plantas , Oryza , Proteínas de Plantas , Receptores de Superficie Celular , Transducción de Señal , Oryza/metabolismo , Oryza/genética , Etilenos/metabolismo , Proteínas de Plantas/metabolismo , Proteínas de Plantas/genética , Fosforilación , Receptores de Superficie Celular/metabolismo , Receptores de Superficie Celular/genética , Plantas Modificadas Genéticamente , Proteínas de la Membrana/metabolismo , Proteínas de la Membrana/genética
17.
Oncol Res Treat ; 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39033747

RESUMEN

INTRODUCTION: This multicenter, phase II randomized, non-inferiority study reports from the first prospective two-armed randomized control trial that compared the efficacy, safety and quality-of-life of pegylated liposomal doxorubicin (PLD)-based and epirubicin-based as adjuvant chemotherapy for stage I-II Human Epidermal Growth Factor Receptor 2 (HER2)-negative breast cancer. METHODS: Patients with stage I/II HER2-negative breast cancer received PLD (37.5mg/m2, Q3W, 5 cycles, LC arm) plus cyclophosphamide (600mg/m2) or epirubicin (90mg/m2, Q3W, 4 cycles, EC arm) plus cyclophosphamide (600mg/m2). Randomization was stratified by lymph node, ER and PR status. The primary endpoint was disease-free survival (DFS), and secondary endpoints were overall survival (OS), safety profiles, and quality of life (QoL). QoL was assessed using the EORTC QLQ-C30 and QLQ-BR23 questionnaires. RESULTS: A total of 256 patients were assigned to LC (n=148) and EC (n=108). There was no difference in 5-year DFS and OS rate between two groups. LC-based adjuvant regimens had significantly less alopecia, less grade 3-4 hematologic adverse events (AEs). Significantly improved QoL was observed in the LC arm during and after treatment for symptoms including fatigue, nausea and vomiting, and systemic therapy side effects. CONCLUSION: Comparable efficacy and safety between adjuvant PLD and epirubicin for stage I-II HER2-negative breast cancer was observed. There was no difference in 5-year DFS and OS rate between the two treatment arms. However, less grade 3-4 AEs and a trend of favorable QoL symptom scales were observed in the LC arm, suggesting that PLD-containing regimen could become a new standard treatment for early stage HER2-negative breast cancer patients.

18.
aBIOTECH ; 4(4): 372-385, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38106437

RESUMEN

Soybean (Glycine max) is an essential economic crop that provides vegetative oil and protein for humans, worldwide. Increasing soybean yield as well as improving seed quality is of great importance. Seed weight/size, oil and protein content are the three major traits determining seed quality, and seed weight also influences soybean yield. In recent years, the availability of soybean omics data and the development of related techniques have paved the way for better research on soybean functional genomics, providing a comprehensive understanding of gene functions. This review summarizes the regulatory genes that influence seed size/weight, oil content and protein content in soybean. We also provided a general overview of the pleiotropic effect for the genes in controlling seed traits and environmental stresses. Ultimately, it is expected that this review will be beneficial in breeding improved traits in soybean.

19.
Artículo en Zh | WPRIM | ID: wpr-663052

RESUMEN

Objective:To investigate the value of 3D printing technology in sphenoid ridge meningioma dissection. Methods:By using craniocerebral spiral enhanced CT scan DICOM images, the skull, vessels, and tumor were extracted, reconstructed, and assembled and integrated in the same coordinate system. Then, we constructed a 3D virtual model and a 3D-printed entity model, which was ap-plied for preoperation and postoperation. Results:Virtual models of the brains of five patients were reconstructed successfully and 3D entity models were produced. The models expressed the relationship among tumors, adjacent blood vessels, and the important posi-tion of the nerve tissue. Then, the models were applied to the reference before surgery planning and after surgery. Five cases were successfully performed. Conclusion:The use of the entity model of sphenoid ridge meningioma is important in optimizing operation plans, improving tumor resection, and reducing intraoperative bleeding.

20.
Journal of Biomedical Engineering ; (6): 1260-1264, 2014.
Artículo en Zh | WPRIM | ID: wpr-234419

RESUMEN

The impeller profile, which is one of the most important factors, determines the creation of shear stress which leads to blood hemolysis in the internal flow of centrifugal blood pump. The investigation of the internal flow field in centrifugal blood pump and the estimation of the hemolysis within different impeller profiles will provide information to improve the performance of centrifugal blood pump. The SST kappa-omega with low Reynolds correction was used in our laboratory to study the internal flow fields for four kinds of impellers of centrifugal blood pump. The flow fields included distributions of pressure field, velocity field and shear stress field. In addition, a fast numerical hemolysis approximation was adopted to calculate the normalized index of hemolysis (NIH). The results indicated that the pressure field distribution in all kinds of blood pump were reasonable, but for the log spiral impeller pump, the vortex and backflow were much lower than those of the other pumps, and the high shear stress zone was just about 0.004%, and the NIH was 0.0089.


Asunto(s)
Humanos , Circulación Asistida , Corazón Auxiliar , Hemólisis , Modelos Teóricos , Estrés Mecánico
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