Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation

We present the case of a 16-year-old boy with a family history of epilepsy who presented with acute respiratory failure, limb weakness, diabetes mellitus, sinus tachycardia, lactic acidosis, and pneumonia. He went on to develop cranial nerve palsy, myoclonus, generalized seizures, ataxia, recurrent pneumonia, and hypotension. Biochemical investigation revealed elevated lactate, pyruvate, and glucose levels. Cerebral magnetic resonance imaging (MRI) revealed bilateral, symmetric, high-intensity T2-weighted signals in the thalamus, brainstem, and gray matter of the spinal cord. Histochemical analyses revealed ragged red fibers (RRF) and decreased cytochrome oxidase activity. Blood and muscle-derived DNA demonstrated a high level (95% and 96%, respectively) of the m.8344A>G mutation, while almost all of his maternal relatives (n = 17, including his mother) carried the same point mutation. The point mutation level of his mother (who had short stature, high blood lactate levels, and epilepsy) was 77% (blood-derived DNA). Although this mutation has been identified in approximately 30 individuals with these disorders, to our knowledge, this is the first reported case of overlapping Leigh syndrome/myoclonic epilepsy with RRF in an adolescent patient, and the largest reported pedigree of mitochondrial DNA A8344G mutation

Early stage transplantation of bone marrow cells markedly ameliorates copper metabolism and restores liver function in a mouse model of Wilson disease

<p>Abstract</p> <p>Background</p> <p>Recent studies have demonstrated that normal bone marrow (BM) cells transplantation can correct liver injury in a mouse model of Wilson disease (WD). However, it still remains unknown when BM cells transplantation should be administered. The aim of this study was to investigate the potential impact of normal BM cells transplantation at different stages of WD to correct liver injury in toxic milk (tx) mice.</p> <p>Methods</p> <p>Recipient tx mice were sublethally irradiated (5 Gy) prior to transplantation. The congenic wild-type (DL) BM cells labeled with CM-DiI were transplanted via caudal vein injection into tx mice at the early (2 months of age) or late stage (5 months of age) of WD. The same volume of saline or tx BM cells were injected as controls. The DL donor cell population, copper concentration, serum ceruloplasmin oxidase activity and aspartate aminotransferase (AST) levels in the various groups were evaluated at 1, 4, 8 and 12 weeks post-transplant, respectively.</p> <p>Results</p> <p>The DL BM cells population was observed from 1 to 12 weeks and peaked by the 4^thweek in the recipient liver after transplantation. DL BM cells transplantation during the early stage significantly corrected copper accumulation, AST across the observed time points and serum ceruloplasmin oxidase activity through 8 to 12 weeks in tx mice compared with those treated with saline or tx BM cells (all <it>P </it>< 0.05). In contrast, BM cells transplantation during the late stage only corrected AST levels from 4 to 12 weeks post-transplant and copper accumulation at 12 weeks post-transplant (all <it>P </it>< 0.05). No significant difference was found between the saline and tx BM cells transplantation groups across the observed time points (<it>P </it>> 0.05).</p> <p>Conclusions</p> <p>Early stage transplantation of normal BM cells is better than late stage transplantation in correcting liver function and copper metabolism in a mouse model of WD.</p

Transonic Flow of Moist Air around the ONERA M6 Wing with Non-equilibrium and Homogeneous Condensation

Abstract: A numerical investigation of the adiabatic and condensing flow field around the ONERA M6 wing is performed. The fundamental equations are based on the compressible Navier-Stokes equations and three additional conservation equations for the liquid phase. Homogeneous nucleation and non-equilibrium condensation are modelled by the classical condensation theory. The Harten&apos;s high-resolution TVD scheme is implemented for solving these equations. Three-dimensional transonic flows around the ONERA M6 wing under wind tunnel conditions are calculated by changing the relative humidity at three angles of attack, 1.07, 3.06 and 6.06 deg. The calculated results indicate that the onset of condensation is very sensitive to the angle of attack and the atmospheric humidity conditions. The condensation induces the release of latent heat and it directly affects the pressure coefficient distributions on the airfoil surface by increasing the humidity. Consequently, the lift-to-drag ratio of the airfoil is strongly influenced

The Processing of Causal and Hierarchical Relations in Semantic Memory as Revealed by N400 and Frontal Negativity.

Most current studies investigating semantic memory have focused on associative (ring-emerald) or taxonomic relations (bird-sparrow). Little is known about the question of how causal relations (virus-epidemic) are stored and accessed in semantic memory. The goal of this study was to examine the processing of causally related, general associatively related and hierarchically related word pairs when participants were required to evaluate whether pairs of words were related in any way. The ERP data showed that the N400 amplitude (200-500 ms) elicited by unrelated related words was more negative than all related words. Furthermore, the late frontal distributed negativity (500-700 ms) elicited by causally related words was smaller than hierarchically related words, but not for general associated words. These results suggested the processing of causal relations and hierarchical relations in semantic memory recruited different degrees of cognitive resources, especially for role binding

Effects of cyclical short-term food deprivation and refeeding on compensatory growth and gene expression of SOD, GPX and HSP70 in Schizothorax wangchiachii

The present study evaluated the effects of cyclical short-term food deprivation and refeeding on growth performance, body composition, and gene expression of SOD, GPX and HSP70 in Schizothorax wangchiachii The experimental design included four feeding protocols for eight weeks: feeding every day of the week (control), starvation for one day and refeeding for six days per week (S1F6 treatment), starvation for two days and refeeding for five days per week (S2F5 treatment), and starvation for three days and refeeding for four days per week (S3F4 treatment). The results showed that no significant difference in final body weight, specific growth rate and feed conversion efficiency were observed among the treatments (P > 0.05).The feeding rate significantly increased with the duration of food deprivation per week compared to the control (P 0.05), but in the kidney, the expression levels of HSP70 were significantly downregulated in S1F6 and S2F5 compared to the control(P 0.05). In conclusion, full compensatory growth was observed in S.wangchiachii under eight cycles of food deprivation and refeeding. Hyperphagia was the main mechanism of compensatory growth of S.wangchiachii

Preparation and Phosphorus Removal Performance of Zr&ndash;La&ndash;Fe Ternary Composite Adsorbent Embedded with Sodium Alginate

Using single metal salts of zirconium, lanthanum, and iron as raw materials and sodium alginate as a cross-linking agent, a new composite adsorbent was prepared via the co-precipitation method and embedding immobilization technology, and its phosphorus adsorption performance in wastewater was evaluated. Scanning electron microscopy (SEM), Fourier transform infrared spectroscopy (FT-IR), X-ray diffraction (XRD), and X-ray photoelectron spectroscopy (XPS) were used for characterization, and a 0.5 mol&middot;L&minus;1 sodium hydroxide solution was used to regenerate the adsorbent. The experimental results demonstrated that the adsorption rate reached 99.88% when the wastewater volume was 50 mL, the initial concentration of phosphorus-containing wastewater was 5 mg&middot;L&minus;1, the pH was 5, the dosage of composite adsorbent was 0.2 g, and the adsorption time was 200 min. The prepared adsorbent could reduce the initial phosphorus concentration of 5 mg&middot;L&minus;1 to 0.006 mg&middot;L&minus;1 in simulated wastewater, and from 4.17 mg&middot;L&minus;1 in urban sewage to undetected (&lt;0.01 mg&middot;L&minus;1), thus meeting the discharge requirements of the grade A standard of the Urban Sewage Treatment Plant Pollutant Discharge Standard (GB18918-2002). The adsorption process conformed to the Freundlich adsorption isothermal equation and quasi-second-order kinetic equation, and the adsorption reaction was exothermic and spontaneous. More importantly, after three lye regeneration tests, the removal rate of phosphorus in water remained above 68%, that is, the composite adsorbent could be reproducibly fabricated and recycled. The characterization results showed that the surface of the composite adsorbent was rough, with a complex pore structure. After phosphorus removal, the surface morphology of the composite adsorbent showed a similar honeycomb structure, with a P-H, P-O stretching vibration peak and a characteristic P2p peak. At the same time, the proportion of hydroxyl groups (M-OH) on the metal surface decreased after adsorption. Our findings thus demonstrate that the mechanism of phosphorus removal is mainly based on the coordination exchange reaction between phosphate and metal active sites and surface hydroxyl groups, resulting in the formation of granular phosphate deposits

chromatographicevaluationandapplicationofsilicabasedazidemodifiedstationaryphaseunderhydrophilicinteractionliquidchromatographymode

亲水作用液相色谱（ HILIC）近年来引起了越来越多的关注，然而用于亲水液相色谱的固定相种类仍然有限，需要开发更多的固定相和分离分析方法。我们课题组开发和评价了基于硅胶基质的叠氮基固定相。首先，采用核苷作为测试样品对固定相的保留性质进行了评价，结果表明核苷在叠氮基固定相上的保留符合亲水液相色谱的典型特征。其次，比较了亲水模式下流动相中两种缓冲盐（碳酸氢铵和甲酸铵）和酸添加剂对叠氮基固定相糖肽富集选择性的影响。结果表明当流动相中不加缓冲盐并且调成酸性时，糖肽富集选择性更高，在优化富集条件后，从辣根过氧化物酶（ HRP）中富集得到9条糖肽信号，所开发的叠氮基固定相具有在HILIC模式下使用的广阔前景