Complex heterozygous mutations in hereditary spherocytosis: A case report.

BACKGROUND: The aim of this study was to investigate the complex heterozygous mutations of ANK1 and SPTA1 in the same individual and improve our understanding of hereditary spherocytosis (HS) in children. We also hope to promote the application of gene detection technology in children with HS, with the goals of identifying more related gene mutations, supporting the acquisition of improved molecular genetic information to further reveal the pathogenesis of HS in children, and providing important guidance for the diagnosis, treatment, and prevention of HS in children. CASE SUMMARY: A 1-year and 5-month-old patient presented jaundice during the neonatal period, mild anemia 8 months later, splenic enlargement at 1 year and 5 months, and brittle red blood cell permeability. Genetic testing was performed on the patient, their parents, and sister. Swiss Model software was used to predict the protein structure of complex heterozygous mutations in ANK1 and SPTA1. Genetic testing revealed that the patient harbored a new mutation in the ANK1 gene from the father and a mutation in the SPTA1 gene from the mother. Combined with the clinical symptoms of the children, it is suggested that the newly discovered complex heterozygous mutations of ANK1 and SPTA1 may be the cause, providing important guidance for revealing the pathogenesis, diagnosis, treatment, and promotion of gene detection technology in children with HS. CONCLUSION: This case involves an unreported complex heterozygous mutation of ANK1 and SPTA1, which provides a reference for exploring HS.

Exploring the mechanism of fraxetin against acute myeloid leukemia through cell experiments and network pharmacology.

OBJECTIVE: Previous studies have shown that fraxetin has antitumor activity in a variety of tumors, but its role in acute myeloid leukemia (AML) remains unclear. In this study, we aimed to evaluate the anti-AML effect of fraxetin through cell experiments and network pharmacology analysis. METHODS: The inhibitory and apoptotic effects of fraxetin on AML cells were determined by CCK-8 and flow cytometry experiments. Potential targets of fraxetin and AML-related targets were screened using public databases. PPI network, GO functional enrichment and KEGG pathway enrichment analyses were performed to predict the hub targets and signaling pathways by which fraxetin alleviates AML. Molecular docking was used to determine the fraxetin binding sites on hub targets. Using the GEPIA database, the expression of hub targets was analyzed in relation to the overall survival of AML patients. RESULTS: Cell experiments showed that fraxetin inhibits AML cell proliferation and induces apoptosis. To explore the potential mechanism of fraxetin, 29 shared targets of fraxetin and AML were obtained through screening online public databases. Among them, AKT1, TNF, SRC, etc., are related to AML cell apoptosis. The expression levels of SRC, NOS3, VAV1, LYN, and PTGS1 were associated with the overall survival of AML patients (p value < 0.05). The enrichment analysis results identified the main pathways, namely, focal adhesion and the PI3K-AKT signaling pathway, that affected the proliferation and apoptosis of AML cells. The analysis of hub targets of the PPI network showed that AKT1, TNF, CTNNB1, etc., were hub targets, which were related to the proliferation and apoptosis of AML cells. The results of molecular docking showed that the hub targets had good binding with fraxetin. CONCLUSION: Fraxetin may inhibit AML cell proliferation and induce AML cell apoptosis through multiple targets, such as AKT1, SRC, and EGFR, and multiple pathways, such as focal adhesion and the PI3K-AKT signaling pathway.

Visible-Light-Induced and Iodoform-Promoted Functionalization of Ether with Secondary Sulfonyl Amides.

An iodoform-promoted functionalization of ether with secondary sulfonyl amides under visible-light irradiation was developed toward synthesis of hemiaminal skeleton with good to excellent isolated yields. The characterization of the isolated ether and iodoform complex revealed regioselective hydrogen atom transfer to initiate carbon radical formation and enabled the amination reaction with the sulfonamide.

Palladium-Catalyzed Borylative Cyclization and Cyclopropanation of Terminal Alkyne-Derived Enynes.

Described herein is a palladium-catalyzed borylative cyclization and cyclopropanation of terminal alkyne-derived enynes, affording borylated bicycles, fused cycles, and bridged cycles in good isolated yields. The synthetic utility of this protocol was fully demonstrated by large scale reaction and synthetic derivatization of the borate group.

CNN-based neural network model for amplified laser pulse temporal shape prediction with dynamic requirement in high-power laser facility.

The temporal shape of laser pulses is one of the essential performances in the inertial confinement fusion (ICF) facility. Due to the complexity and instability of the laser propagation system, it is hard to predict the pulse shapes precisely by pure analytic methods based on the physical model [Frantz-Nodvik (F-N) equation]. Here, we present a data-driven model based on a convolutional neural network (CNN) for precise prediction. The neural network model introduces sixteen parameters neglected in the F-N equation based models to expand the representation dimension. The sensitivity analysis of the experimental results confirms that these parameters have different degrees of influence on the temporal output shapes and cannot be ignored. The network characterizes the whole physical process with commonality and specificity features to improve the description ability. The prediction accuracy evaluated by a root mean square of the proposed model is 7.93%, which is better compared to three optimized physical models. This study explores a nonanalytic methodology of combining prior physical knowledge with data-driven models to map the complex physical process by numerical models, which has strong representation capability and great potential to model other measurable processes in physical science.

Providing children with COVID-19 vaccinations is challenging due to lack of data and wide-ranging parental acceptance.

AIM: Vaccines are vital to ending the COVID-19 pandemic and we reviewed the data on vaccinating children, and including them in clinical trials, as most of the activity has focused on adults. METHODS: English and Chinese databases, including PubMed, Elsevier Scopus, Web of Science, CNKI and CQVIP were searched, along with websites such as the World Health Organization and the University of Oxford. RESULTS: We identified 44 papers and 16 news items about vaccinating children against the virus, published from 10 February 2020 to 14 July 2021. Child vaccination has been slow and only a few countries have included children in Phase II or III clinical trials. The data on children were much more limited than on adults, but most children were asymptomatic or had mild symptoms and some deaths had been recorded. More clinical trials are needed to assess the safety and efficacy of vaccinating children, as higher vaccination levels can help to build up herd immunity. The percentage of parents willing to vaccinate their children against the virus ranged from 48.2% to 72.6%, with much lower rates for letting them participate in clinical trials. CONCLUSION: Vaccines should be offered to children as soon as their safety and efficacy are established.

SARS-CoV-2 Infection: Differences in Hematological Parameters Between Adults and Children.

Since December 2019, corona virus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has become a global pandemic, posing a huge threat to human health, and the current epidemic prevention situation is still severe. Hematological parameters directly reflect the damage of SARS-CoV-2 to human blood cells, which can better assess the severity and prognosis of patients infected with COVID-19, but hematological parameters have some differences between adults and children. This article comprehensively reviews the differences in hematological parameters between adults and children after SARS-CoV-2 infection, and provides a reference for the diagnosis and treatment of COVID-19.

Network pharmacology-based strategy for predicting therapy targets of Tripterygium wilfordii on acute myeloid leukemia.

This is a study on the potential therapeutic targets and pharmacological mechanism of Tripterygium wilfordii (TW) in acute myeloid leukemia (AML) based on network pharmacology.Active components of TW were obtained by network pharmacology through oral bioavailability, drug-likeness filtration. Comparative analysis was used to investigate the overlapping genes between active ingredient's targets and AML treatment-related targets. Using STRING database to analyze interactions among overlapping genes. Both KEGG pathway analysis and Gene Ontology enrichment analysis were conducted in DAVID. These genes were analyzed for survival in OncoLnc database.We screened 53 active ingredients; the results of comparative analysis showed that 8 active ingredients had an effect on AML treatment. On the basis of the active ingredients and overlapping genes, we constructed the Drug-Compounds-Genes-Disease Network. Survival analysis of overlapping genes indicated that some targets possessed a significant influence on patients' survival and prognosis. The enrichment analysis showed that the main pathways of targets were Toll-like receptor signaling pathway, NF-kappa B signaling pathway, and HIF-1 signaling pathway.This study, using a network pharmacologic approach, provides another strategy that can help us to understand the mechanisms by which TW treats AML comprehensively.

Unitary transformation for Poincaré beams on different parts of Poincaré sphere.

We construct an experimental setup, consisting of conical refraction transformation in two biaxial cascade crystals and 4f-system, to realize Unitary transformation of light beam and the manipulation of Poincaré beams on the different parts of Poincaré sphere. The spatial structure of the polarization can be controlled by changing the polarization of the incident beam or rotating the angle between these two crystals. The beams with different SoPs covering the full-Poincaré sphere, part-Poincaré sphere and one point on the sphere are generated for the different angles between crystals. The Unitary transformation of light beam is proposed in the experiment with the invariant intensity distribution. Subsequently, the spin angular momentum is derived from the distribution of polarization measured in our experiment. Moreover, the conversion between orbital angular momentum and spin angular momentum of light beam is obtained by changing the angle between crystals. And the conversion progress can also be influenced by the polarization of incident beam. We realized the continuous control of the spatial structure of the angular momentum density, which has potential in the manipulation of optical trapping systems and polarization-multiplexed free-space optical communication.

COVID-19 epidemic: Disease characteristics in children.

In mid-December 2019, a disease caused by infection with severe acute respiratory syndrome coronavirus-2, which began in Wuhan, China, has spread throughout the country and many countries around the world. The number of children with coronavirus disease-2019 (COVID-19) has also increased significantly. Although information regarding the epidemiology of COVID-19 in children has accumulated, relevant comprehensive reports are lacking. The present article reviews the epidemiological characteristics of COVID-19 in children.

Off-axis eight-pass neodymium glass laser amplifier with high efficiency and excellent energy stability.

A new relay-imaged off-axial eight-pass laser amplifier with several joules energy and 1 Hz repetition rate was demonstrated. The extraction efficiency and pulse-to-pulse energy stability were greatly improved. Under the single-pass small-signal gain of 3.6, a net gain of 900 and an effective extraction efficiency of 42.4% in the beam aperture were realized. Pulse-to-pulse energy stability of 0.83% (peak-valley) and 0.17% (root-mean-square) was achieved by the significant saturation of eight-pass amplification, which, to the best of our knowledge, is the best energy stability in several-joules-class amplifiers. The far-field quality was 2.52 times the diffraction limit, and the near-field modulation of the 90% beam aperture was 1.28. No parasitic oscillations or pencil beams were observed. Moreover, another key feature of the proposed amplifier was the ability to remarkably improve the pulse contrast with a unique design.

Generation of the periodically polarized structured light beams.

We report a kind of structured light beam with periodical polarization and phase singularities. It is generated from a setup consisting of conical refraction transformation and 4f-system. By this setup, the periodical structures are produced without any change of intensity distributions. We analyze both theoretically and experimentally the polarization and phase structures of the periodically structured light beam. The dependence of period is demonstrated on the length of crystal and the focal length. It is shown that the polarization of the input beam can be used to control the polarization and phase structures of the output beam.

Experimental research on the influences of smoothing by spectral dispersion on the Technical Integration Line.

We describe one-dimensional smoothing by spectral dispersion (SSD) in high fluence on the Technical Integration Line. The experimental results indicate that SSD did not influence the load capacity of the laser facility. The near- and far-field analysis prove that adopting SSD could smooth the high-frequency modulations in the near field and dramatically suppress 10 µm-100 µm spatial modulations in the far field. The focal spot contrast decreases from 2.58 to 0.80 after using SSD and adaptive optics. Adopting a 0.31 nm bandwidth frequency-modulated laser pulse and a 1200 l/mm dispersion grating, experimental results proved that 97% 3ω energy passed through the laser entrance hole using a 4 m focal length wedged lens and gold foil target with an 1100 µm hole.

Surface modification of polypropylene microporous membrane to improve its antifouling characteristics in an SMBR: N2 plasma treatment.

Fouling is the major obstacle in membrane processes applied in water and wastewater treatment. The polypropylene hollow fiber microporous membranes (PPHFMMs) were surface modified by N(2) low-temperature plasma treatment to improve the antifouling characteristics. Morphological changes on the membrane surface were characterized by field emission scanning electron microscopy (FE-SEM). The change of surface wettability was monitored by contact angle measurements. The static water contact angle of the modified membrane reduced obviously; the relative pure water flux of the modified membranes increased with the increase of plasma treatment time. To assess the relation between plasma treatment and membrane fouling in a submerged membrane bioreactor (SMBR), filtration of activated sludge was carried out by using synthetic wastewater. After continuous operation in the SMBR for about 90 h, flux recoveries for the N(2) plasma-treated PPHFMM for 8 min were 62.9% and 67.8% higher than those of the virgin membrane after water and NaOH cleaning. The irreversible fouling resistance decreased after plasma treatment.