Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features

BackgroundDiGeorge Syndrome (DGS) is a rare disease associated with 22q11.2 chromosomal microdeletion, also known as a velocardiofacial syndrome, based on the frequent involvements of the palate, facial, and heart problems. Hematologic autoimmunity is rare in DGS but presents with a refractory course and poor prognosis. Herein, we report a case of partial DGS in a patient with refractory immune cytopenia and autoimmune lymphoproliferative syndrome (ALPS)-like manifestations.Case descriptionA 10-year-old boy with growth retardation presented initially with a ventricular septal defect at 7 months old, which had been repaired soon after. The patient suffered from thrombocytopenia and progressed into chronic refractory immune thrombocytopenia (ITP) at 30 months old. One year later, the patient developed multilineage cytopenias including thrombocytopenia, neutropenia, and anemia. First-line treatment of ITP, like high-dose dexamethasone and intravenous immunoglobulin, had little or short-term effect on controlling symptoms. Whole-exome sequencing revealed the presence of a de novo heterozygous 2.520 Mb deletion on chromosome 22q11.21. Moreover, decreased proportion of naive T cells and elevated double-negative T cells were found. The patient was given sirolimus therapy (1.5 mg/m2, actual blood concentration range: 4.0–5.2 ng/ml) without adding other immunosuppressive agents. The whole blood cell count was gradually restored after a month, and the disease severity was soothed with less frequency of infections and bleeding events. Decreased spleen size and restrained lymph node expansion were achieved after 3-month sirolimus monotherapy.ConclusionsThis case is the first description on the efficacy of sirolimus monotherapy to treat refractory multilineage cytopenias of DGS presented with ALPS-like features

Light-driven C-H bond activation mediated by 2D transition metal dichalcogenides

C-H bond activation enables the facile synthesis of new chemicals. While C-H activation in short-chain alkanes has been widely investigated, it remains largely unexplored for long-chain organic molecules. Here, we report light-driven C-H activation in complex organic materials mediated by 2D transition metal dichalcogenides (TMDCs) and the resultant solid-state synthesis of luminescent carbon dots in a spatially-resolved fashion. We unravel the efficient H adsorption and a lowered energy barrier of C-C coupling mediated by 2D TMDCs to promote C-H activation. Our results shed light on 2D materials for C-H activation in organic compounds for applications in organic chemistry, environmental remediation, and photonic materials

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

Dynamic Improvement with a Feedforward Control Strategy of Bidirectional DC-DC Converter for Battery Charging and Discharging

With the increasing importance of power accumulator batteries in electric vehicles, the accurate characteristics of power accumulator batteries have an important role. In order to evaluate the power accumulator battery, battery charging and discharging is indispensable. In this article, a H-bridge bidirectional DC-DC converter is presented which can charge and discharge the battery with different voltage levels and one of the merits of this topology is that a wide output voltage range can be easily achieved. In the control part, a proportional-integral (PI) control strategy is adopted to ensure a stable and reliable operation of the converter. Furthermore, compared with the PI control strategy, a duty ratio feedforward control is utilized to obtain the rapid current dynamic response. In this article, firstly, the system configuration for battery charging and discharging is introduced, then the operating principles and mathematical model of the DC-DC converter are analyzed and derived. Secondly, for bidirectional DC-DC converters, the PI control method and duty ratio feedforward control method are put forward and designed. Finally, the simulation model is established based on PSIM software and the experiment platform is also built in lab. The results of the simulation and experiment research show that the H-bridge bidirectional DC-DC converter can operate reliably and stably during the charging, discharging and power flow reverse modes. In addition, the dynamic response of the charging and discharging current can also be further improved by introducing the duty ratio feedforward control method

Size-Dependent Buckling Analysis of Microbeams by an Analytical Solution and Isogeometric Analysis

This paper proposes an analytical solution and isogeometric analysis numerical approach for buckling analysis of size-dependent beams based on a reformulated strain gradient elasticity theory (RSGET). The superiority of this method is that it has only one material parameter for couple stress and another material parameter for strain gradient effects. Using the RSGET and the principle of minimum potential energy, both non-classical Euler–Bernoulli and Timoshenko beam buckling models are developed. Moreover, the obtained governing equations are solved by an exact solution and isogeometric analysis approach, which conforms to the requirements of higher continuity in gradient elasticity theory. Numerical results are compared with exact solutions to reveal the accuracy of the current isogeometric analysis approach. The influences of length–scale parameter, length-to-thickness ratio, beam thickness and boundary conditions are investigated. Moreover, the difference between the buckling responses obtained by the Timoshenko and Euler–Bernoulli theories shows that the Euler–Bernoulli theory is suitable for slender beams

Size-Dependent Buckling Analysis of Microbeams by an Analytical Solution and Isogeometric Analysis

This paper proposes an analytical solution and isogeometric analysis numerical approach for buckling analysis of size-dependent beams based on a reformulated strain gradient elasticity theory (RSGET). The superiority of this method is that it has only one material parameter for couple stress and another material parameter for strain gradient effects. Using the RSGET and the principle of minimum potential energy, both non-classical Euler–Bernoulli and Timoshenko beam buckling models are developed. Moreover, the obtained governing equations are solved by an exact solution and isogeometric analysis approach, which conforms to the requirements of higher continuity in gradient elasticity theory. Numerical results are compared with exact solutions to reveal the accuracy of the current isogeometric analysis approach. The influences of length–scale parameter, length-to-thickness ratio, beam thickness and boundary conditions are investigated. Moreover, the difference between the buckling responses obtained by the Timoshenko and Euler–Bernoulli theories shows that the Euler–Bernoulli theory is suitable for slender beams

Variational Formulations and Isogeometric Analysis of Timoshenko–Ehrenfest Microbeam Using a Reformulated Strain Gradient Elasticity Theory

This paper presents a novel non-classical Timoshenko–Ehrenfest beam model based on a reformulated strain gradient elasticity theory. The strain gradient effect, couple stress effect, and velocity gradient effect for vibration are included in the new model by only one material length scale parameter for each. The variational formulation and Hamilton’s principle are applied to derive the governing equations and boundary conditions. Both an analytical solution and an isogeometric analysis approach are proposed for static bending and free vibration of the microbeam. A non-uniform rational B-splines (NURBS) isogeometric analysis with high-order continuity can effectively fulfill the higher derivatives of the displacement variables in the reformulated gradient beam model. Convergence studies and comparisons to the corresponding analytical solutions verify the model’s performance and accuracy. Finally, different boundary conditions, material length scale parameters, and beam thicknesses are investigated in order to certify the applicability of the proposed approach

Variational Formulations and Isogeometric Analysis of Timoshenko–Ehrenfest Microbeam Using a Reformulated Strain Gradient Elasticity Theory

This paper presents a novel non-classical Timoshenko–Ehrenfest beam model based on a reformulated strain gradient elasticity theory. The strain gradient effect, couple stress effect, and velocity gradient effect for vibration are included in the new model by only one material length scale parameter for each. The variational formulation and Hamilton’s principle are applied to derive the governing equations and boundary conditions. Both an analytical solution and an isogeometric analysis approach are proposed for static bending and free vibration of the microbeam. A non-uniform rational B-splines (NURBS) isogeometric analysis with high-order continuity can effectively fulfill the higher derivatives of the displacement variables in the reformulated gradient beam model. Convergence studies and comparisons to the corresponding analytical solutions verify the model’s performance and accuracy. Finally, different boundary conditions, material length scale parameters, and beam thicknesses are investigated in order to certify the applicability of the proposed approach

An alkaline and surfactant-tolerant lipase from Trichoderma lentiforme ACCC30425 with high application potential in the detergent industry

Abstract Alkaline lipases with adaptability to low temperatures and strong surfactant tolerance are favorable for application in the detergent industry. In the present study, a lipase-encoding gene, TllipA, was cloned from Trichoderma lentiforme ACCC30425 and expressed in Pichia pastoris GS115. The purified recombinant TlLipA was found to have optimal activities at 50 °C and pH 9.5 and retain stable over the pH range of 6.0–10.0 and 40 °C and below. When using esters of different lengths as substrates, TlLipA showed preference for the medium length p-nitrophenyl octanoate. In comparison to commercial lipases, TlLipA demonstrated higher tolerance to various surfactants (SDS, Tween 20, and Triton X100) and retained more activities after incubation with Triton X100 for up to 24 h. These favorable characteristics make TlLipA prospective as an additive in the detergent industry

Dynamic fracture analysis of the linearly uncoupled and coupled physical phenomena by the variable-node multiscale XFEM

International audienceThis paper aims to develop a variable-node multiscale extended finite element method (V-XFEM) for dynamic fracture analysis of the linearly uncoupled and coupled physical phenomena in a compact formula. The general governing equations for the linearly uncoupled and coupled physical phenomena are presented in a compact form. The local mesh refinement technique for modeling cracks is used to improve the accuracy and efficiency, in which variable-node elements without modifying the system matrix or impose additional boundary conditions are taken to connect/link different scale elements. In addition, the time-dependent equations are solved by the unconditionally stable implicit Newmark time integration method, and the dynamic intensity factors (DIFs) are derived from the domain forms of the interaction integrals. Numerical results of the linearly elastic and piezoelectric problems show that V-XFEM is an efficient numerical approach to simulate the dynamic fracture problems of the linearly uncoupled and coupled physical phenomena