Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review

Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of TPK deficiency with completely different phenotypes and different therapeutic effects, and 26 cases of previously reported were retrospectively reviewed to improve our understanding of the clinical and genetic features of the disease. Patients with TPK deficiency present with ataxia, dysarthria, dystonia, disturbance of consciousness, seizures, and other nervous system dysfunction. Different gene variant sites may lead to different clinical features and therapeutic effects. Gene analysis is important for the diagnosis of TPK deficiency caused by TPK1 variants, and thiamine supplementation has been the mainstay of treatment for TPK deficiency to date

A facile one-pot synthesis of CaO/CuO hollow microspheres featuring highly porous shells for enhanced CO2 capture in combined Ca-Cu looping process via a template-free synthesis approach

The preparation of bifunctional CaO/CuO composites with high performance is essential for the development of the combined Ca–Cu looping process, in which the exothermic reduction of CuO with methane is used in situ to provide the heat required to calcine CaCO3. However, the rapid decline in CO2 uptake of CaO/CuO composites remains an important problem to be solved, despite their excellent redox characteristic. Herein we report a facile one-pot template-free synthesis approach to yield CaO/CuO hollow microspheres, aimed at enhancing the CO2 capture performance of CaO/CuO composites. CaO/CuO hollow microspheres feature highly porous shells and a homogeneous elemental distribution, and demonstrate significantly enhanced CO2 capture performance. After ten repeated cycles in a fixed-bed reactor, the CO2 uptake capacity of the best-performing CaO/CuO hollow microspheres exceeded that of the reference materials, i.e., CaO/CuO composites synthesized via wet mixing or a co-precipitation method, by 222% and 114%, respectively. Moreover, from cycle number eight onwards, the CO2 uptake was very stable over the tested 20 cycles, suggesting good cyclic stability of CaO/CuO hollow microspheres. Oxidation was always fast with O2 uptake capacities greater than 0.13 gO2 gmaterial−1. On the basis of N2 adsorption, scanning electron microscopy (SEM) and transmission electron microscopy (TEM) characterizations, the significantly enhanced CO2 capture performance of the CaO/CuO hollow microspheres resulted from the unique hollow microsphere structure with highly porous shells, which were retained throughout the cyclic operations

Temporally and Longitudinally Tailored Dynamic Space-Time Wave Packets

In general, space-time wave packets with correlations between transverse spatial fields and temporal frequency spectra can lead to unique spatiotemporal dynamics, thus enabling control of the instantaneous light properties. However, spatiotemporal dynamics generated in previous approaches manifest themselves at a given propagation distance yet not arbitrarily tailored longitudinally. Here, we propose and demonstrate a new versatile class of judiciously synthesized wave packets whose spatiotemporal evolution can be arbitrarily engineered to take place at various predesigned distances along the longitudinal propagation path. Spatiotemporal synthesis is achieved by introducing a 2-dimensional spectrum comprising both temporal and longitudinal wavenumbers associated with specific transverse Bessel-Gaussian fields. The resulting spectra are then employed to produce wave packets evolving in both time and axial distance - in full accord with the theoretical analysis. In this respect, various light degrees of freedom can be independently manipulated, such as intensity, polarization, and transverse spatial distribution (e.g., orbital angular momentum). Through a temporal-longitudinal frequency comb spectrum, we simulate the synthesis of the aforementioned wave packet properties, indicating a decrease in relative error compared to the desired phenomena as more spectral components are incorporated. Additionally, we experimentally demonstrate tailorable spatiotemporal fields carrying time- and longitudinal-varying orbital angular momentum, such that the local topological charge evolves every ~1 ps in the time domain and 10 cm axially. We believe that our space-time wave packets can significantly expand the exploration of spatiotemporal dynamics in the longitudinal dimension, and potentially enable novel applications in ultrafast microscopy, light-matter interactions, and nonlinear optics

Output fixed-time synchronization of discontinuous coupled neural networks with multiple output couplings

This paper is concerned with the output fixed-time synchronization of coupled neural networks (CNNs) with multiple output couplings. Two types of network model are considered: the CNNs with coupling delays and the CNNs without coupling delays. In addition, discontinuous activation is taken into account so that the model is more general. Then, by employing a new type of fixed-time control lemma, two flexible control strategies are designed to realize the output fixed-time synchronization of the multiweighted CNNs, and less conservative criteria are obtained. Moreover, the settling time can be estimated with more accuracy than most existing literature. Lastly, two simulations are designed to testify the correctness of the proposed theorems

Quantitative Detection of Chromium Pollution in Biochar Based on Matrix Effect Classification Regression Model

Returning biochar to farmland has become one of the nationally promoted technologies for soil remediation and improvement in China. Rapid detection of heavy metals in biochar derived from varied materials can provide a guarantee for contaminated soil, avoiding secondary pollution. This work aims first to apply laser-induced breakdown spectroscopy (LIBS) for the quantitative detection of Cr in biochar. Learning from the principles of traditional matrix effect correction methods, calibration samples were divided into 1–3 classifications by an unsupervised hierarchical clustering method based on the main elemental LIBS data in biochar. The prediction samples were then divided into diverse classifications of calibration samples by a supervised K-nearest neighbor (KNN) algorithm. By comparing the effects of multiple partial least squares regression (PLSR) models, the results show that larger numbered classifications have a lower averaged relative standard deviations of cross-validation (ARSDCV) value, signifying a better calibration performance. Therefore, the 3 classification regression model was employed in this study, which had a better prediction performance with a lower averaged relative standard deviations of prediction (ARSDP) value of 8.13%, in comparison with our previous research and related literature results. The LIBS technology combined with matrix effect classification regression model can weaken the influence of the complex matrix effect of biochar and achieve accurate quantification of contaminated metal Cr in biochar

Skin Rash as the First Manifestation of Pediatric Chronic Neutrophilic Leukemia

A 6-year-old girl presented with recurrent skin rash at the initial stage, recent joint pain, and neutrophilia was found during a routine blood test. After a multidisciplinary case discussion, she was diagnosed with chronic neutrophil leukemia, and the symptoms were relieved after hydroxyurea and luxolitinib treatment. She received the allogeneic hematopoietic stem cell transplantation subsequently. At present, she is in stable condition and under follow-up. Chronic neutrophil leukemia is a rare disease, which rarely occurs in children. It is more difficult to diagnose in patients with skin rash as the first manifestation. The diagnosis and treatment of this case reflects the important role of multidisciplinary cooperation in the diagnosis and treatment of difficult and rare diseases

Nanoscale Metal–Organic Frameworks for Ratiometric Oxygen Sensing in Live Cells

We report the design of a phosphorescence/fluorescence dual-emissive nanoscale metal–organic framework (NMOF), R-UiO, as an intracellular oxygen (O₂) sensor. R-UiO contains a Pt­(II)-porphyrin ligand as an O₂-sensitive probe and a Rhodamine-B isothiocyanate ligand as an O₂-insensitive reference probe. It exhibits good crystallinity, high stability, and excellent ratiometric luminescence response to O₂ partial pressure. <i>In vitro</i> experiments confirmed the applicability of R-UiO as an intracellular O₂ biosensor. This work is the first report of a NMOF-based intracellular oxygen sensor and should inspire the design of ratiometric NMOF sensors for other important analytes in biological systems

Transformation of Fonsecaea pedrosoi into sclerotic cells links to the refractoriness of experimental chromoblastomycosis in BALB/c mice via a mechanism involving a chitin-induced impairment of IFN-gamma production

Fonsecaea pedrosoi (F. pedrosoi) is the most common agent of chromoblastomycosis. Transformation of this fungus from its saprophytic phase into pathogenic sclerotic cells in tissue is an essential link to the refractoriness of this infection. Experimental studies in murine models have shown that the absence of CD4+ T cells impairs host defense against F. pedrosoi infection. Clinical research has also suggested that a relatively low level of the Th1 cytokine INF-gamma and inefficient T cell proliferation are simultaneously present in patients with severe chromoblastomycosis upon in vitro stimulation with ChromoAg, an antigen prepared from F. pedrosoi. In the present study, we show that in mice intraperitoneally infected with F. pedrosoi-spores, -hyphae or in vitro-induced sclerotic cells respectively, the transformation of this causative agent into sclerotic cells contributes to a compromised Th1 cytokine production in the earlier stage of infection with impaired generation of neutrophil reactive oxygen species (ROS) and pan-inhibition of Th1/Th2/Th17 cytokine production with disseminated infection in the later stage by using a CBA murine Th1/Th2/Th17 cytokine kit. In addition, we have further demonstrated that intraperitoneal administration of recombinant mouse IFN-gamma (rmIFN-gamma) effectively reduces the fungal load in the infected mouse spleen, and dampens the peritoneal dissemination of F. pedrosoi-sclerotic cells. Meanwhile, exogeneous rmIFN-gamma contributes to the formation and maintenance of micro-abscess and restores the decrease in neutrophil ROS generation in the mouse spleen infected with F. pedrosoisclerotic cells. Of note, we have once again demonstrated that it is a chitin-like component, but not beta-glucans or mannose moiety, that exclusively accumulates on the outer cell wall of F. pedrosoi-sclerotic cells which were induced in vitro or isolated from the spleens of intraperitoneally infected BALB/c mice. In addition, our results indicate that decreased accumulation of chitin on the surface of live F. pedrosoi-sclerotic cells after chitinase treatment can be self-compensated in a time-dependent manner. Importantly, we have for the first time demonstrated that exclusive accumulation of chitin on the transformed sclerotic cells of F. pedrosoi is involved in an impaired murine Th1 cytokine profile, therefore promoting the refractoriness of experimental murine chromoblastomycosis