RESUMO
OBJECTIVES: This study aimed to evaluate whether fetal echocardiographic parameters were predictive of the postnatal surgical treatment required for fetuses with Tetralogy of Fallot (TOF). METHODS: The fetal echocardiographic and postnatal clinical data of all cases of prenatal TOF at Xinhua Hospital from 2016 to 2020 were reviewed. Patients were categorized based on the operation type, and cardiac parameters were compared between groups. RESULTS: Of the 37 fetuses assessed, the development of the pulmonary valve annulus (PVA) was significantly poorer in the transannular patch group. Patients with a prenatal PVA z-score (Schneider's method) ≥ -2.645, a PVA z-score (Lee's method) ≥ -2.805, a PVA/aortic valve annulus diameter ratio ≥ .697, and a pulmonary annulus index ≥ .823 were more likely to undergo pulmonary valve-sparing surgery. There was a strong correlation between prenatal and postnatal PVA z-scores. The PVA growth potential was greater in the pulmonary valve-sparing surgery group. CONCLUSIONS: PVA-related parameters evaluated by fetal echocardiography can predict the type of surgical intervention required and are valuable in improving prenatal counseling in fetal cases of TOF.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Valva Pulmonar , Tetralogia de Fallot , Feminino , Humanos , Gravidez , Tetralogia de Fallot/cirurgia , Estudos Retrospectivos , Valva Pulmonar/diagnóstico por imagem , Ecocardiografia , Resultado do TratamentoRESUMO
OBJECTIVE: To explore the genetic basis for a rare case of acute B-lymphocytic leukemia (B-ALL) with double Philadelphia chromosomes (Ph) and double derivative chromosome 9s [der(9)]. METHODS: A patient with double Ph and double der(9) B-ALL who presented at Shanghai Zhaxin Intergrated Traditional Chinese and Western Medicine Hospital in June 2020 was selected as the subject. Bone marrow morphology, flow cytometry, G-banding karyotyping, fluorescence in situ hybridization (FISH), genetic testing and chromosomal microarray analysis (CMA) were used to analyze bone marrow samples from the patient at various stages. RESULTS: At initial diagnosis, the patient's bone marrow morphology and flow immunotyping have both supported the diagnosis of B-ALL. G-banded karyotyping of the patient indicated double Ph, in addition with hyperdiploid chromosomes involving translocations between chromosomes 9 and 22. BCR-ABL1 fusion gene was positive. Genetic testing at the time of recurrence revealed presence of a heterozyous c.944C>T variant in the kinase region of the ABL1 gene. FISH showed a signal for ABL1-BCR fusion on both chromosome 9s. CMA showed that the mosaicism homozygosity ratio of chromosome 9 was about 40%, and the mosaicism duplication ratio of chromosome 22 was about 43%. CONCLUSION: Since both der(9) homologs were seen in 40% of cells, the possible mechanism for the double der(9) in this patient may be similar to that of double Ph, which might have resulted from non-disjunction during mitosis in the Ph chromosome-positive cell clone.
Assuntos
Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Hibridização in Situ Fluorescente/métodos , China , Aberrações Cromossômicas , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocação Genética , Proteínas de Fusão bcr-abl/genética , Cromossomos Humanos Par 9/genéticaRESUMO
BACKGROUND: This study aimed to investigate the plasma long non-coding RNA (lncRNA) expression profile in knee osteoarthritis (KOA) patients and the value of candidate lncRNAs for predicting KOA risk. METHODS: Plasma was obtained for RNA sequencing (RNA-seq) in eight KOA patients and eight healthy controls (Ctrls). Ten candidate lncRNAs were then selected from the differentially expressed (DE) lncRNAs according to the rank of absolute value of Log2 (fold change). Afterward, RT-qPCR was used to examine 10 candidate lncRNAs expressions in plasma of 100 KOA patients and 100 Ctrls. RESULTS: In eight KOA patients and eight Ctrls, principal component analysis and heatmap plots disclosed that lncRNA and mRNA expression profile could distinguish KOA patients from Ctrls. Then Volcano plot identified 418 upregulated lncRNAs, 347 downregulated lncRNAs, 521 upregulated mRNAs, and 333 downregulated mRNAs in KOA patients compared to Ctrls. Next, enrichment analyses revealed that DE lncRNAs were mainly enriched in biological processes, molecular functions, and signaling pathways related to inflammation and bone formation. In 100 KOA patients and 100 Ctrls, eight candidate lncRNAs were dysregulated in KOA patients compared to Ctrls, including lncRNA ABCF2P2, lncRNA RP13-16H11.7, lncRNA CTC-340A15.2, lncRNA RP4-735C1.6, lncRNA RP11-293G6-B.8, lncRNA RP11-1246C19.1, lncRNA RP11-303E16.6, and lncRNA RP5-882C2.2. Receiver operating characteristic curve analysis revealed that these eight candidate lncRNAs presented with values for predicting KOA risk. Furthermore, multivariate logistic regression elucidated that six candidate lncRNAs could independently predict KOA risk. CONCLUSION: We disclosed a landscape of circulating lncRNA expression profile in KOA patients, and discovered several specific lncRNAs which could assist in KOA management.
RESUMO
Zinc-ion batteries (ZIBs) are regarded as promising power sources for flexible and biocompatible devices due to their good sustainability and high intrinsic safety. However, their applications have been hindered by the issues of uncontrolled Zn dendrite growth and severe water-induced side reactions in conventional liquid electrolytes. Herein, an ionically cross-linked composite hydrogel electrolyte based on natural biomacromolecules, including iota-carrageenan and sodium alginate, is designed to promote highly efficient and reversible Zn plating/stripping. The abundant functional groups of macromolecules effectively suppress the reactivity of water molecules and facilitate uniform Zn deposition. Moreover, the composite hydrogel electrolyte exhibits a high ionic conductivity of 5.89 × 10-2 S cm-1 and a Zn2+ transference number of 0.58. Consequently, the ZnâZn symmetric cell with the composite hydrogel electrolyte shows a stable cycle life of more than 500 h. Meanwhile, the ZnâNH4V4O10 coin cell with the composite hydrogel electrolyte retains a high specific capacity of approximately 200 mA h g-1 after 600 cycles at 2 A g-1. The ZnâNVO pouch cell based on the composite hydrogel electrolyte also shows a high specific capacity of 246.1 mA h g-1 at 0.5 A g-1 and retains 70.7% of its initial capacity after 150 cycles. The pouch cell performs well at different bending angles and exhibits a capacity retention rate of 98% after returning to its initial state from 180° folding. This work aims to construct high-performance hydrogel electrolytes using low-cost natural materials, which may provide a solution for the application of ZIBs in flexible biocompatible devices.
RESUMO
Transboundary river cooperation provides an effective pathway to maintain regional security and sustainable development; however, its implementation is a pressing and prominent concern due to lack of appropriate compensation measures and effective incentive strategies. Here we develop a dual water-electricity cooperation (DWEC) framework that combines water and electricity trading to meet the often-conflicting demands of participating countries. The results from the Lancang-Mekong River Basin reveal that substantial benefits in both economic and social aspects can be achieved through coupling regional water and electricity trades. Economic benefits can be obtained by expanding cooperation space and thereby greatly improving the willingness of countries to participate in basin-wide cooperation. Electricity trading plays a key role in loss compensation for water exporters, ensuring no loss for any party and maximizing basin-wide benefits. Furthermore, the DWEC improves regional water use equality, especially in water shortage periods when there is severe competition among water users. The proposed cooperation framework provides a viable way to implement cooperation in transboundary river basins.
RESUMO
Ambient ozone (O3) predictions can be very challenging mainly due to the highly nonlinear photochemistry among its precursors, and meteorological conditions and regional transport can further complicate the O3 formation processes. The emission-based chemical transport models (CTM) are broadly used to predict O3 formation, but they may deviate from observations due to input uncertainties such as emissions and meteorological data, in addition to the treatment of O3 nonlinear chemistry. In this study, an innovative recurrent spatiotemporal deep-learning (RSDL) method with model-monitor coupled convolutional recurrent neural networks (ConvRNN) has been developed to improve O3 predictions of CTM. The RSDL method was first used to build the ConvRNN within a 24-h scale to characterize the spatiotemporal relationships between the monitored O3 data and CTM simulations, and then incorporated the recurrent pattern to achieve 72-h multi-site forecasts based on a pilot study over the Pearl River Delta (PRD) region of China. The results showed that the RSDL method predicted O3 with high accuracy over this case study, with an increase of 27.54% in the correlation coefficient (R) average for all sites as well as an increase in R of 0.14-0.21 for all cities compared to CTM. Moreover, the regional distribution of CTM was further improved by the RSDL predictions with the data fusion technique, which greatly reduced the underpredictions of O3 concentrations, particularly in high O3-level areas (concentrations >160 µg/m3), with a 33.55% reduction in the mean absolute error (MAE).
Assuntos
Poluentes Atmosféricos , Poluição do Ar , Aprendizado Profundo , Ozônio , Ozônio/análise , Poluentes Atmosféricos/análise , Projetos Piloto , Monitoramento Ambiental/métodos , China , Poluição do Ar/análiseRESUMO
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two novel mutations in the gene encoding coiled-coil domain-containing protein 40 (CCDC40), which are found in a familial case of PCD. These novel CCDC40 mutations, NM_017950.4: c.2236-2delA and c.2042_2046delTCACA, NP_060420.2: p.(Ile681fs), were identified by whole-exome sequencing (WES). Sanger sequencing was then performed to confirm the WES results and determine the CCDC40 gene sequences of the proband's parents. The c.2042_2046delTCACA mutation disrupts the reading frame of the protein and is therefore predicted to produce a non-functional protein. Using a minigene assay with the pcDNA3.1(+) plasmid, we further investigated the potential pathogenic effects of the c.2236-2delA mutation and found that this mutation leads to formation of a truncated protein via splicing disruption. Thus, in summary, we identified two mutations of the CCDC40 gene that can be considered pathogenic compound heterozygous mutations in a case of familial PCD, thereby expanding the known mutational spectrum of the CCDC40 gene in this disease.
RESUMO
Aqueous zinc-ion batteries (ZIBs) are perceived as one of the most upcoming grid-scale storage systems. However, the issues of electrode dissolution, dendrite formation, and corrosion in traditional liquid electrolytes have plagued its progress. In this work, Zn dendrite growth and side reactions are effectively suppressed by a highly-confined tannic acid (TA) modified sodium alginate (SA) composite gel electrolyte (TA-SA). The ion-confinement effect is enhanced by divalent zinc ions coordinated with carboxyl groups and chelated with phenolic hydroxyl groups, thus guiding and regulating Zn deposition to achieve steady zinc plating/stripping behavior. As a consequence, the Zn/TA-SA/NH4V4O10 full cells deliver a high specific capacity of 238.6 mAh g-1 and maintain 94.51% over 900 cycles at 2 A g-1. Notably, after resting over 5 d, the capacity can be stabilized with a capacity retention of 97.25% after 200 cycles at 2 A g-1. This highly-confined and hydrogen bond-strengthened gel electrolyte may provide an effective strategy for the future development of quasi-solid-state metal batteries.
RESUMO
Methylmalonic acidaemia (MMA) has been reported to be associated with cardiovascular involvement, especially for the combined type with homocystinuria. We have screened 80 control subjects and 99 MMA patients (23 isolated type and 76 combined type) using electrocardiograph and echocardiography. 32 cases (34%) of ECG changes were found including sinus tachycardia (n = 11), prolonged QTc interval (n = 1), I-degree atrioventricular block (n = 1), left axis deviation (n = 5) and T wave change (n = 14). By echocardiography, 8 cases of congenital heart disease were found in 4 combined MMA patients (5.3%) including ventricular septal defect (n = 2), atrial septal defect (n = 3), patent ductus arteriosus (n = 1) and coronary artery-pulmonary artery fistula (n =2). Pulmonary hypertension (n = 2) and hypertrophic cardiomyopathy (n = 1) in combined subtype were also noted. Moreover, echocardiographic parameters were analyzed by multiple regression to clarify the influence of different subtypes on cardiac function. It was found that the left ventricular mass index (LVMI) was significantly reduced only in combined subtype [R = -3.0, 95%CI (-5.4, -0.5), P = 0.017]. For left ventricle, the mitral E' velocity was significantly reduced [isolated type: R = -1.8, 95%CI (-3.3, -0.4), P = 0.016; combined type: R = -2.5, 95%CI (-3.5, -1.5), P < 0.001], the global longitudinal strain (GLS) was the same [isolated type: R = -1.4, 95%CI (-2.3, -0.4), P = 0.007; Combined type: R = -1.1, 95%CI (-1.8, -0.4), P = 0.001], suggesting weakened left ventricular diastolic and systolic functions in both subtypes. For right ventricle, only in combined subtype, the tricuspid E' velocity was significantly reduced [R = -1.4, 95%CI (-2.6, -0.2), P = 0.021], and the tricuspid annular plane systolic excursion (TAPSE) was the same [R = -1.3, 95%CI (-2.3, -0.3), P=0.013], suggesting impaired right ventricular systolic and diastolic function. In conclusion, isolated and combined types showed different pattern of cardiac dysfunction, specifically the former only affected the left ventricle while the latter affected both ventricles. And it is necessary to perform echocardiographic screening and follow up in both MMA subtypes.
RESUMO
Lancang River, the upstream reach of Mekong River, is a hotspot region in the sustainable management of water resources and environment as it is currently facing the deterioration of aquatic ecosystems. Nutrient balance (i.e., Phosphorus) in the Lancang-Mekong River Basin has become a highly disputed issue in recent years due to the construction of cascade hydropower stations. However, the estimation of the total phosphorus (TP) load faces great difficulties and challenges due to the absent measured water quality data. This study estimates the TP load based on the social economic data, analyzes the spatial distribution of TP and the contribution of different TP sources in the Lancang River basin under the level of social-economic development in 2014. Results show that the annual average TP load in the Lancang River Basin is 1.6 × 104-3.9 × 104 tons, which is at a very low level compared with other large-scale basins in China. The TP load from natural soil erosion dominates all other sources, accounting for 69%, followed by agricultural production and fertilization. In general, the TP load increases from upstream to downstream, but heterogeneity also exits in different regions under the influence of various factors, such as rainfall intensity, soil properties and human activities. The results reveal a holistic picture of TP load in the Lancang River Basin, which could provide a new perspective on the trans-border international river management.
RESUMO
Many studies have focused on the use of BiVO4 as a photocatalyst, but few have investigated the production of free radicals during the photocatalytic process. Following synthesis of flowerlike BiVO4 and characterization by X-ray diffraction (XRD), Raman spectroscopy, Scanning electron microscopy (SEM) Scanning electron microscopy (EDX), UV-Vis and XPS, we successfully prepared BiVO4. Then we used electron spin resonance (ESR) to determine the production and degradation of individual active free radicals, including the superoxide radical (·[Formula: see text]) and the hydroxyl radical (·OH). In the first experiment, we used ESR to detect the signals of free radicals (·[Formula: see text] and ·OH) under varying oxygen conditions. The results shown that in addition to production by ·[Formula: see text], ·OH could also be produced by oxidation of h+ to OH-. In the next experiment, we detected ·OH under varying pH to identify the result of the first experiment, and found that signal intensities increased with increasing pH, indicating the mechanism for ·OH production. Finally, we conducted a trapping experiment to examine free radical degradation mechanisms. We identified ·OH and h+ as the main active free radicals and showed the complete production about ·OH. These results improve current knowledge of free radical production mechanisms, which can be used to enhance the photocatalytic performance of BiVO4.
RESUMO
The carbonized PAF-1 derivatives formed by high-temperature KOH activation showed a unique bimodal microporous structure located at 0.6 nm and 1.2 nm and high surface area. These robust micropores were confirmed by nitrogen sorption experiment and high-resolution transmission electron microscopy (TEM). Carbon dioxide, methane and hydrogen sorption experiments indicated that these novel porous carbon materials have significant gas sorption abilities in both low-pressure and high-pressure environments. Moreover the methane storage ability of K-PAF-1-750 is among the best at 35 bars, and its low-pressure gas adsorption abilities are also comparable to the best porous materials in the world. Combined with excellent physicochemical stability, these materials are very promising for industrial applications such as carbon dioxide capture and high-density clean energy storage.