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1.
Sensors (Basel) ; 24(3)2024 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-38339586

RESUMEN

To overcome the shortcomings of plowing and rotary tillage, a human-like weeding shoveling machine was designed. The machine's various moving rods were analyzed using Matlab R2019b(9.7.0.1190202) software to determine the appropriate entry and cutting conditions, as well as non-cutting conditions. It was concluded that a θ2 of 90° was optimal for cutting the soil and that the shoveling depth was suitable for greenhouse weeding. The Adams and DEM coupled discrete element simulation system was developed for this machine and was used to analyze the rotating shaft torque and shovel bending moment. A strain measurement system based on strain gauges was designed to measure the rotating shaft torque and shovel bar bending moment. A bending moment and torque measurement system was designed to perform field measurement tests for comparison with simulation results. The simulation system's rotating shaft had an average torque error of 6.26%, while the shovel rod's bending moment had an average error of 5.43%. The simulation accuracy was within the acceptable error range. Table U8 (81 × 44) of the Uniform Design of the Mixing Factor Level for the Homogeneous Virtual Simulation Test includes eight levels of forward machine speed ranging from 0.1 to 0.45 m/s and four levels of output shaft speed ranging from 90 to 165 r/min. Crank lengths were set at four levels ranging from 155 to 185 mm, while shovel lengths were set at four levels ranging from 185 to 230 mm. Four types of shovel shapes were proposed, including pointed curved shovels, pointed straight shovels, straight-edged curved shovels, and straight-edged straight shovels. A mathematical model was created via a regression analysis of the results of coupled simulation tests to establish the relationship between shaft torque and shovel rod bending moment, tool advance speed, shaft speed, crank length, tool length, and tool shape. The model was used to determine the optimum working parameters.

2.
Environ Pollut ; 343: 123234, 2024 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-38154777

RESUMEN

Elevated ozone (O3) has emerged as the major air quality concern since China's clean air actions, offsetting the health benefits gained from improved air quality. Given the shifted ozone chemical regimes and recently boosted extreme weather in China, it's essential to rethink the O3 trends since 2013 for evaluations of air pollution mitigation policy. Here, we examine the anthropogenically and meteorologically modulated summertime O3 trends across China at different stages of the clean air actions using multi-source observations combined with multi-model calculations. Ozone increases steadily in China between 2013-2022, with a fast increase rate of 4.4 µg m-3 yr-1 in Phase I and a much smaller 0.6 µg m-3 yr-1 in Phase II of Action Plan. Results highlight that the deteriorative O3 pollution in Phase I and early Phase II is dominated by the nonlinear O3-emission response. Persistent decline in O3 precursors has shifted its chemical regime in urban areas and began to show a positive influence on ozone mitigation in recent years. Meteorological influence on O3 variations is minor until 2019 (∼10%), but it greatly accelerates or relieves the O3 pollution after then, showing comparable contribution to emissions. Epidemiological model predicts totally 0.8-3.0 thousand yr-1 more deaths across China with altered anthropogenic emissions since clean air actions, and additional health burdens by -1.5-0.3 thousand yr-1 from perturbated meteorology. This study calls for stringent emission control and climate adaptation strategies to attain the ozone pollution mitigation in China.


Asunto(s)
Contaminantes Atmosféricos , Contaminación del Aire , Ozono , Ozono/análisis , Contaminantes Atmosféricos/análisis , Monitoreo del Ambiente/métodos , Contaminación del Aire/análisis , China
4.
Sci Rep ; 13(1): 11233, 2023 07 11.
Artículo en Inglés | MEDLINE | ID: mdl-37433803

RESUMEN

SUMOylation (SUMO modification) has been confirmed to play an essential role in the progression of various malignancies. As the value of SUMOylation-related genes (SRGs) in prognosis prediction of hepatocellular carcinoma (HCC) has not been explored, we aim to construct an HCC SRGs signature. RNA sequencing was utilized to identify differentially expressed SRGs. The 87 identified genes were used in Univariate Cox regression analysis and the Least Absolute Shrinkage and Selection Operator (LASSO) analysis to build a signature. The accuracy of the model was validated by the ICGC and GEO datasets. The GSEA revealed that the risk score was associated with common cancer-related pathways. The ssGSEA showed that NK cells in the high-risk group were significantly reduced. The sensitivities of anti-cancer drugs confirmed the sensitivity of the high-risk group to sorafenib was lower. Further, our cohort showed that risk scores were correlated with advanced grade and vascular invasion (VI). Finally, the results of H&E staining and immunohistochemistry of Ki67 showed that higher-risk patients are more malignant.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/genética , Pronóstico , Sumoilación , Neoplasias Hepáticas/genética , Sorafenib
5.
Front Genet ; 13: 944681, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36437949

RESUMEN

Background: The pseudouridine synthases (PUSs) have been reported to be associated with cancers. However, their involvement in hepatocellular carcinoma (HCC) has not been well documented. Here, we assess the roles of PUSs in HCC. Methods: RNA sequencing data of TCGA-LIHC and LIRI-JP were downloaded from the Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC), respectively. GSE36376 gene expression microarray was downloaded from the Gene Expression Omnibus (GEO). Proteomics data for an HBV-related HCC cohort was obtained from the CPTAC Data Portal. The RT-qPCR assay was performed to measure the relative mRNA expression of genes in clinical tissues and cell lines. Diagnostic efficiency was evaluated by the ROC curve. Prognostic value was assessed using the Kaplan-Meier curve, Cox regression model, and time-dependent ROC curve. Copy number variation (CNV) was analyzed using the GSCA database. Functional analysis was carried out with GSEA, GSVA, and clusterProfiler package. The tumor microenvironment (TME) related analysis was performed using ssGSEA and the ESTIMATE algorithm. Results: We identified 7 PUSs that were significantly upregulated in HCC, and 5 of them (DKC1, PUS1, PUS7, PUSL1, and RPUSD3) were independent risk factors for patients' OS. Meanwhile, the protein expression of DKC1, PUS1, and PUS7 was also upregulated and related to poor survival. Both mRNA and protein of these PUSs were highly diagnostic of HCC. Moreover, the CNV of PUS1, PUS7, PUS7L, and RPUSD2 was also associated with prognosis. Further functional analysis revealed that PUSs were mainly involved in pathways such as genetic information processing, substance metabolism, cell cycle, and immune regulation. Conclusion: PUSs may play crucial roles in HCC and could be used as potential biomarkers for the diagnosis and prognosis of patients.

6.
Front Pharmacol ; 13: 961863, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36278190

RESUMEN

Probability of target attainment is the key factor influencing the outcome of meropenem therapy. The objective of the present study was to evaluate the relationship between the time in which the plasma free concentration of meropenem exceeds the minimum inhibitory concentration of pathogens (fT >MIC) during therapy and the clinical outcome of treatment to optimize meropenem therapy. Critically ill children with infections who had received intravenous meropenem monotherapy were included. The relationship between fT >MIC of meropenem and effectiveness and safety were explored. Data from 53 children (mean age ± standard deviation, 26 months ± 38) were available for final analysis. Children with fT >MIC ≥ 5.6 h (n = 14) had a more significant improvement in antibacterial efficacy in terms of decrease in fever (p = 0.02), white blood cell count (p = 0.014), and C-reactive protein (p = 0.02) compared with children with fT >MIC < 5.6 h (n = 39) after meropenem therapy completed. No drug-related adverse events were shown to have a causal association with meropenem therapy. Our study shows the clinical benefits of sufficient target attainment of meropenem therapy. Meeting a suitable pharmacodynamic target attainment of meropenem is required to ensure better antibacterial efficacy in critically ill infants and children. Clinical Trial Registration: clinicaltrials.gov, Identifier NCT03643497.

7.
Soft Matter ; 18(39): 7486-7496, 2022 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-36000526

RESUMEN

Combining principal component analysis (PCA) of X-ray spectra with MD simulations, we experimentally reveal the existence of three basic components in water. These components exhibit distinct structures, densities, and temperature dependencies. Among the three, the two major components correspond to the low-density liquid (LDL) and the high-density liquid (HDL) predicted by the two-component model, and the third component exhibits a unique 5-hydrogen-bond configuration with ultra-high local density. As the temperature increases, the LDL component decreases and the HDL component increases, while the third component varies non-monotonically with a peak around 20 °C to 30 °C. The 3D structure of the third component is further illustrated as the uniform distribution of five hydrogen-bonded neighbors on a spherical surface. Our study reveals experimental evidence for water's possible three-component structure, which provides a fundamental basis for understanding water's special properties and anomalies.

8.
Front Oncol ; 12: 852095, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35392237

RESUMEN

In this study, we aimed to reveal the resistance mechanism of hepatocellular carcinoma (HCC) cells to sorafenib by exploring the effect of FNDC5 on sorafenib-induced ferroptosis in HCC cells. We compared the expression level of FNDC5 between sorafenib-resistant and sorafenib-sensitive HCC cell lines and the level of ferroptosis between the groups after treatment with sorafenib. We knocked down FNDC5 in drug-resistant cell lines and overexpressed it in sorafenib-sensitive HCC cell lines to further demonstrate the role of FNDC5 in sorafenib-induced ferroptosis. Using PI3K inhibitors, we revealed the specific mechanism by which FNDC5 functions. In addition, we verified our findings obtained in in vitro experiments using a subcutaneous tumorigenic nude mouse model. The findings revealed that FNDC5 inhibits sorafenib-induced ferroptosis in HCC cells. In addition, FNDC5 activated the PI3K/Akt pathway, which in turn promoted the nuclear translocation of Nrf2 and increased the intracellular antioxidant response, thereby conferring resistance to ferroptosis. Our study provides novel insights for improving the efficacy of sorafenib.

9.
J Oncol ; 2022: 5758601, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35251173

RESUMEN

BACKGROUND: The homeobox (HOX) gene family has been found to be involved in human cancers. However, its involvement in hepatocellular carcinoma (HCC) has not been well documented. Here, we comprehensively evaluated the role of HOXs in HCC. METHODS: RNA sequencing profile of TCGA-LIHC and LIRI-JP were obtained from the Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC), respectively. Data of TCGA-LIHC methylation were downloaded from UCSC Xena. Genetic alteration data for the TCGA samples was obtained from cBioPortal and GSCA. The diagnostic efficiency was assessed using ROC curves. The prognostic significance was evaluated by the Kaplan-Meier method and Cox regression analysis. Subsequent functional analysis was performed through the clusterProfiler package. ssGSEA, ESTIMATE, and TIDE algorithms were employed to explore the relationship between HOXs and the HCC microenvironment. Finally, pRRophetic package and NCI-60 cancerous cell lines were applied to estimate anticancer drug sensitivity. RESULTS: The mRNA levels of HOXs in HCC tissues were higher than those of noncancerous tissues and were correlated with poor overall survival (OS). HOXA6, C6, D9, D10, and D13 could serve as independent risk factors for OS. Further functional analysis revealed that these five HOXs regulate the cell proliferation, cell cycle, immune response, and microenvironment composition of HCC. In addition, the aberrant expression and methylation of HOXs is of great value in the diagnosis of HCC. CONCLUSION: HOXs play crucial roles in HCC and could serve as potential markers for HCC diagnosis and prognosis.

10.
J Healthc Eng ; 2022: 7100238, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35035853

RESUMEN

The aim of this study was to study the effect of early nutritional assessment and nutritional support on immune function and clinical prognosis of critically ill children. 90 critically ill children at the same level of severity admitted to the pediatric intensive care unit (PICU) of our hospital (June 2019-June 2020) were chosen as the research objects and were equally separated into the experimental group and the control group by the random number table method. The children in the control group were admitted to the PICU according to the routine process, and the nutritional support was provided to the malnourished ones. After admission to the PICU, the children in the experimental group were given nutritional assessment, nutritional risk screening, and nutritional support according to the screening results. The PICU stay time and total hospitalization time of the experimental group were obviously shorter than those of the control group (P < 0.05), the hospitalization expenses of the experimental group were obviously lower than those of the control group (P < 0.05), the clinical outcomes and immune function of the experimental group were obviously better than those of the control group (P < 0.05), and the nutrition indicators of the experimental group were obviously higher than those of the control group (P < 0.05). Early nutritional assessment and nutritional support can effectively improve the immune function and reduce the incidence of adverse clinical outcomes of critically ill children, which are worthy of clinical application and promotion.


Asunto(s)
Enfermedad Crítica , Evaluación Nutricional , Niño , Humanos , Inmunidad , Lactante , Apoyo Nutricional , Pronóstico
11.
J Colloid Interface Sci ; 607(Pt 1): 242-252, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34500423

RESUMEN

Bismuth titanate (Bi12TiO20) with unique sillenite structure has been shown to be an excellent photocatalyst for environmental remediation. However, the narrow light-responsive range and rapid recombination of photoinduced electrons-holes limit the photocatalytic performance of Bi12TiO20. To overcome the limitations, a practical and feasibleway is to fabricate heterojunctions by combining Bi12TiO20 with suitable photocatalysts. Here, using a facile chemical precipitation method, a novel and hierarchical core-shell structure of n-Bi12TiO20@p-BiOI (BTO@BiOI) heterojunction was rationally designed and synthesized by loading BiOI nanosheets on BTO nanofibers. The constructed BTO@BiOI composites exhibited significant charge transfer ability due to the synergistic effects of the built-in electric field between BTO and BiOI as well as close interfacial contacts. In addition, the narrow bandgapcharacteristics of the BiOI led to wide light absorption ranges. Therefore, the BTO@BiOI heterojunction exhibited an improved photocatalytic performance under visible light irradiation. The NO removal efficiency of optimal BTO@BiOI was 45.7%, which was significantly higher compared tothat of pure BTO (3.6%) or BiOI (23.1%). Moreover, the cycling experiment revealed that BTO@BiOI composite has a good stability and reusability. The possible mechanism of photocatalytic NO oxidation over BTO@BiOI was investigated in detail.

12.
J Colloid Interface Sci ; 611: 137-148, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34942487

RESUMEN

Converting CO2 into chemical energy by using solar energy is an environmental strategy to achieve carbon neutrality. In this paper, two dimensionality (2D) SrTiO3-x nanosheets with oxygen vacancies were synthesized successfully. Oxygen vacancies will generate defect levels in the band structure of SrTiO3-x. So, SrTiO3-x nanosheets have good photocatalytic CO2 reduction performance under visible light. In order to further improve its photocatalytic efficiency, Bi was used to dope Sr site and Ti site in SrTiO3-x nanosheets respectively. It is found that Sr site is the adsorption site of CO2 molecules. When Bi replaced Sr, CO2 adsorption on the surface of SrTiO3-x nanosheets was weakened. When Bi replaced Ti, there has no effect on CO2 adsorption. Due to the synergistic effect of Bi doping, oxygen vacancies, and Sr active site, the 1.0% Bi-doped Ti site in SrTiO3-x (1.0% Bi-Ti-STO) had the best photocatalytic performance under visible light (λ ≥ 420 nm). CO and CH4 yields were 5.58 umol/g/h and 0.36 umol/g/h. Photocatalytic CO2 reduction path has always been the focus of exploration. The in-situ FTIR spectrum proved the step of photocatalytic CO2 reduction and COO- and COOH are important intermediates in the photocatalytic CO2 reaction.

13.
Biochem Biophys Res Commun ; 582: 77-85, 2021 12 10.
Artículo en Inglés | MEDLINE | ID: mdl-34695754

RESUMEN

PURPOSE: The purpose of this study was to investigate the effect of FNDC5 expression levels in hepatocellular carcinoma on the phenotypic changes of macrophages in tumor tissues. METHODS: In this study, we established an in vitro co-culture system of hepatocellular carcinoma cells and macrophages. Then we performed overexpression or knockdown of FNDC5 gene in hepatocellular carcinoma cells to observe the effect of changes in FNDC5 expression level on the phenotypic changes of THP-1 macrophages. And the conclusions obtained in the in vitro assay were further validated by a subcutaneous tumorigenic nude mice model. RESULTS: Our findings suggest that elevated FNDC5 expression in hepatocellular carcinoma cells lead to an increased M2 phenotype and decreased M1 phenotype in macrophages. This effect may be achieved by elevating PPARγ levels in macrophages while decreasing NF-κB and NLRP3 levels. These changes could be reversed by using PPARγ inhibitors. CONCLUSION: We preliminarily demonstrated that FNDC5 in hepatocellular carcinoma cells promotes the polarization of M2 macrophages by affecting the PPARγ/NF-κB/NLRP3 pathway.


Asunto(s)
Carcinoma Hepatocelular/genética , Fibronectinas/genética , Neoplasias Hepáticas/genética , FN-kappa B/genética , Proteína con Dominio Pirina 3 de la Familia NLR/genética , PPAR gamma/genética , Anilidas/farmacología , Animales , Carcinogénesis/genética , Carcinogénesis/metabolismo , Carcinogénesis/patología , Carcinoma Hepatocelular/metabolismo , Carcinoma Hepatocelular/mortalidad , Carcinoma Hepatocelular/patología , Diferenciación Celular , Línea Celular Tumoral , Técnicas de Cocultivo , Fibronectinas/antagonistas & inhibidores , Fibronectinas/metabolismo , Regulación Neoplásica de la Expresión Génica , Células Hep G2 , Humanos , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/mortalidad , Neoplasias Hepáticas/patología , Ratones , Ratones Desnudos , FN-kappa B/metabolismo , Proteína con Dominio Pirina 3 de la Familia NLR/metabolismo , PPAR gamma/metabolismo , ARN Interferente Pequeño/genética , ARN Interferente Pequeño/metabolismo , Transducción de Señal , Análisis de Supervivencia , Células THP-1 , Carga Tumoral/efectos de los fármacos , Ensayos Antitumor por Modelo de Xenoinjerto
14.
Nat Mater ; 20(12): 1635-1642, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34211155

RESUMEN

For various engineering and industrial applications it is desirable to realize mechanical systems with broadly adjustable elasticity to respond flexibly to the external environment. Here we discover a topology-correlated transition between affine and non-affine regimes in elasticity in both two- and three-dimensional packing-derived networks. Based on this transition, we numerically design and experimentally realize multifunctional systems with adjustable elasticity. Within one system, we achieve solid-like affine response, liquid-like non-affine response and a continuous tunability in between. Moreover, the system also exhibits a broadly tunable Poisson's ratio from positive to negative values, which is of practical interest for energy absorption and for fracture-resistant materials. Our study reveals a fundamental connection between elasticity and network topology, and demonstrates its practical potential for designing mechanical systems and metamaterials.


Asunto(s)
Elasticidad
15.
Comput Intell Neurosci ; 2021: 8890808, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33859682

RESUMEN

Convolutional neural network (CNN) has been leaping forward in recent years. However, the high dimensionality, rich human dynamic characteristics, and various kinds of background interference increase difficulty for traditional CNNs in capturing complicated motion data in videos. A novel framework named the attention-based temporal encoding network (ATEN) with background-independent motion mask (BIMM) is proposed to achieve video action recognition here. Initially, we introduce one motion segmenting approach on the basis of boundary prior by associating with the minimal geodesic distance inside a weighted graph that is not directed. Then, we propose one dynamic contrast segmenting strategic procedure for segmenting the object that moves within complicated environments. Subsequently, we build the BIMM for enhancing the object that moves based on the suppression of the not relevant background inside the respective frame. Furthermore, we design one long-range attention system inside ATEN, capable of effectively remedying the dependency of sophisticated actions that are not periodic in a long term based on the more automatic focus on the semantical vital frames other than the equal process for overall sampled frames. For this reason, the attention mechanism is capable of suppressing the temporal redundancy and highlighting the discriminative frames. Lastly, the framework is assessed by using HMDB51 and UCF101 datasets. As revealed from the experimentally achieved results, our ATEN with BIMM gains 94.5% and 70.6% accuracy, respectively, which outperforms a number of existing methods on both datasets.


Asunto(s)
Redes Neurales de la Computación , Reconocimiento en Psicología , Humanos , Movimiento (Física)
16.
Medicine (Baltimore) ; 99(43): e22940, 2020 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-33120854

RESUMEN

RATIONALE: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) has been reported almost exclusively in the Japanese population. PATIENT CONCERNS: A 17-month-old male patient presented with fever and seizures, and subsequently fell into a coma. On the second day, he recovered consciousness. On the fourth day, he developed complex partial seizures and fell into a coma again. On day 10, the fever and seizures subsided. Head computed tomography on the first day showed no abnormalities. Brain diffusion-weighted images on the fourth day revealed reduced diffusion in the bilateral subcortical white matter. DIAGNOSIS: A diagnosis of AESD was made. INTERVENTIONS: The patient was treated with corticosteroids and intravenous immunoglobulin. OUTCOMES: At the 4-month follow-up, the patient was able to walk independently, and the epileptic seizures were well controlled. LESSONS: AESD is a rare entity, and treatment with corticosteroids and intravenous immunoglobulin can lead to a favorable prognosis. Clinicians should be aware of this condition, and clinicoradiological features can suggest the diagnosis.


Asunto(s)
Encefalopatías/complicaciones , Imagen de Difusión por Resonancia Magnética/métodos , Convulsiones/etiología , Enfermedad Aguda , Corticoesteroides/uso terapéutico , Encefalopatías/diagnóstico , Encefalopatías/tratamiento farmacológico , Coma/diagnóstico , Coma/etiología , Quimioterapia Combinada , Fiebre/diagnóstico , Fiebre/etiología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Lactante , Masculino , Convulsiones/diagnóstico , Convulsiones/fisiopatología , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología
17.
Exp Ther Med ; 17(5): 3943-3948, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31007737

RESUMEN

Clinical features of sepsis-associated encephalopathy in children with different prognoses were analyzed and the changes of regional cerebral oxygen saturation (rScO2) and central venous oxygen saturation (ScvO2) were measured. Eighty children with sepsis-related encephalopathy, admitted to the Pediatric Intensive Care Unit (PICU) of the Children's Hospital Affiliated to Zhengzhou University, were enrolled in this study and post-intensive care syndrome (PICS) scoring was performed within 24 h after admission. Patients were separated into groups according to the score results and treatment outcomes. Clinical features, functional tests, imaging examinations, PICS scores, and modified Glasgow Coma Scale (GCS) scores were compared among children with varying severities and prognoses. The changes of rScO2 and ScvO2 at different time-points among children with different prognoses were measured and compared. According to PICS scores, there were 8 non-critically ill children, 42 critically ill children, and 30 extremely critically ill children. Fifty-two children survived, and the survival rate was 65%. Comparison of the clinical characteristics of children with different conditions showed that deep coma, generalized seizure, severe electroencephalogram (EEG) abnormalities, and the survival of children were significantly associated with the severity of disease (P<0.05). At the same time, compared to the survivors group, the rates of generalized seizures and severe EEG abnormalities were significantly increased in the deceased children group, while the PICS and GCS scores were significantly decreased (P<0.05). rScO2 values in the deceased group were lower than those in the survival group at different time-points, but the differences were not significant (P>0.05). On the contrary, ScvO2 values were significantly higher in the deceased group than those in the survivors group (P<0.05). The lower the PICS and GCS scores in children with sepsis-related encephalopathy, the more serious the condition, and the more likely to develop disturbance of consciousness, epileptic seizures, and abnormal EEG changes. Whereas, changes of ScvO2 are closely related to prognosis.

18.
Pediatr Investig ; 3(2): 122-126, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32851303

RESUMEN

INTRODUCTION: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions. CASE PRESENTATION: We describe two brothers with FBPase deficiency. The proband developed s evere hypoglycemia and progressed to status epilepticus, and the brother showed slightly hypoglycemia with a good prognosis. Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1_333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose-1,6-bisphosphatase 1 gene in the two brothers, which were inherited from the father and the mother, respectively. CONCLUSION: Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.

19.
Infect Dis (Lond) ; 47(7): 453-7, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25712793

RESUMEN

BACKGROUND: The aim of this study was to investigate the risk factors for severe hand, foot and mouth disease (HFMD) complicated with cardiopulmonary collapse in children. METHODS: In total, 176 children aged 6-45 months with severe HFMD from March 2013 to May 2014 were enrolled in the study and divided into two groups, one with cardiopulmonary collapse and the other without. Univariate analysis and multiple logistic regression analysis were used to analyze the risk factors for severe HFMD complicated with cardiopulmonary collapse. RESULTS: The univariate analysis showed that there was no significant correlation between age, body temperature, consciousness disorders, blood glucose level and severe HFMD complicated with cardiopulmonary collapse. The multiple logistic regression analysis demonstrated that vomiting, circulatory disturbance, enterovirus 71 infection, dysfunction of respiratory rhythm and high level of brain natriuretic peptide were five independent risk factors for severe HFMD complicated with cardiopulmonary collapse. CONCLUSION: Children with HFMD and the above five risk factors may be at risk for cardiopulmonary collapse and poor prognosis.


Asunto(s)
Enfermedad de Boca, Mano y Pie/complicaciones , Enfermedad de Boca, Mano y Pie/patología , Enfermedad Cardiopulmonar/etiología , Preescolar , Femenino , Enfermedad de Boca, Mano y Pie/metabolismo , Humanos , Lactante , Modelos Logísticos , Masculino , Péptidos Natriuréticos/metabolismo , Pronóstico , Estudios Retrospectivos , Factores de Riesgo
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