Congenital dyserythropoietic anemia in China: a case report from two families and a review

Congenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China.     

Magnetic resonance imaging and risk factors for progression of lacunar infarct lesions in Chinese patients

Neuroradiology - The proportion of acute symptomatic lacunar infarction lesions that undergo cavitation and the factors influencing cavity formation are yet unclear, particularly in the Chinese...     

Activation of Nrf2 signaling by sitagliptin and quercetin combination against β-amyloid induced Alzheimer's disease in rats

The objective of this study was to evaluate the neuroprotective effect of sitagliptin (Sita), quercetin (QCR) and its combination in β-amyloid (Aβ) induced Alzheimer's disease (AD). Male Sprague–Dawley rats, weighing between 220 and 280 g were used for experiment. Rats were divided into 5 groups (n = 10) and the groups were as follows: (a) Sham control; (b) Aβ injected; (c) Aβ injected + Sita 100; (d) Aβ injected + QCR 100; and (e) Aβ injected + Sita 100 + QCR 100. Cognitive performance was observed by the Morris water maze (MWM), biochemical markers, for example, MDA, SOD, CAT, GSH, Aβ1-42 level, Nrf2/HO-1 expression and histopathological study of rat brain were estimated. Pretreatment with Sita, QCR and their combination showed a significant increase in escape latency in particular MWM cognitive model. Further co-administration of sita and QCR significantly reduced Aβ1-42 level when compared with individual treatment. Biochemical markers, for example, increased SOD, CAT and GSH, decreased MDA were seen, and histopathological studies revealed the reversal of neuronal damage in the treatment group. Additionally, Nrf2/HO-1 pathway in rat's brain was significantly increased by Sita, QCR and their combination. Pretreatment with QCR potentiates the action of Sita in Aβ induced AD in rats. The improved cognitive memory could be because of the synergistic effect of the drugs by decreasing Aβ1-42 level, antioxidant activity and increased expression of Nrf2/HO-1 in rat brain.     

Modified-release oral pellets for duodenum delivery of doxycycline hyclate

To minimize the gastric and esophageal injury effect, a system to deliver doxycycline hyclate (DOXY) to the duodenum area is needed. DOXY-containing modified-release oral pellets (DMOP) coated with hydroxypropyl methylcellulose phthalate HP-55 (HPMCP HP-55) and hydroxypropyl methylcellulose E15 (HPMC E15) appear to be a reasonable choice. This coating layer dissolves at pH 5.5, which is the pH of the duodenum, but not at a gastric pH (1.2). The formulation and preparation of DMOP were optimized, and a scale-up test was performed. The results showed that the production reproducibility was acceptable, and the quality of DMOP well met the standards of Chinese Pharmacopeia (Ch.P, 2015 edition). Notably, the accumulated DOXY release was lower than 50% at pH 1.2 (20 min) and higher than 85% at pH 5.5, which met the USP40-NF35 standard for DOXY modified-release formulations. Moreover, the storage stability of DMOP with different packages was investigated by stress testing, accelerated and long-term testings. The stability of DMOP was maintained up to 12 months, in terms of DOXY content and in vitro release behavior. The results seem to suggest that DMOP could be a promising duodenum delivery system.     

Systematic determination of absolute absorption cross-section of individual carbon nanotubes

Optical absorption is the most fundamental optical property characterizing light–matter interactions in materials and can be most readily compared with theoretical predictions. However, determination of optical absorption cross-section of individual nanostructures is experimentally challenging due to the small extinction signal using conventional transmission measurements. Recently, dramatic increase of optical contrast from individual carbon nanotubes has been successfully achieved with a polarization-based homodyne microscope, where the scattered light wave from the nanostructure interferes with the optimized reference signal (the reflected/transmitted light). Here we demonstrate high-sensitivity absorption spectroscopy for individual single-walled carbon nanotubes by combining the polarization-based homodyne technique with broadband supercontinuum excitation in transmission configuration. To our knowledge, this is the first time that high-throughput and quantitative determination of nanotube absorption cross-section over broad spectral range at the single-tube level was performed for more than 50 individual chirality-defined single-walled nanotubes. Our data reveal chirality-dependent behaviors of exciton resonances in carbon nanotubes, where the exciton oscillator strength exhibits a universal scaling law with the nanotube diameter and the transition order. The exciton linewidth (characterizing the exciton lifetime) varies strongly in different nanotubes, and on average it increases linearly with the transition energy. In addition, we establish an empirical formula by extrapolating our data to predict the absorption cross-section spectrum for any given nanotube. The quantitative information of absorption cross-section in a broad spectral range and all nanotube species not only provides new insight into the unique photophysics in one-dimensional carbon nanotubes, but also enables absolute determination of optical quantum efficiencies in important photoluminescence and photovoltaic processes.Single-walled carbon nanotubes (SWNTs), a model one-dimensional nanomaterial system, constitute a rich family of structures (1). Each single-walled nanotube structure, uniquely defined by the chiral index (n,m), exhibits distinct electrical and optical properties (2–5). Quantitative information of SWNT absorption cross-section is highly desirable for understanding nanotube electronic structures, for evaluating quantum efficiency of nanotube photoluminescence (5, 6) and photocurrent (7–9), and for investigating the unique many-body effects in 1D systems (10–16). Despite its obvious importance, reliable experimental determination of nanotube absorption cross-section at the single-tube level is still challenging (17). Previous absorption measurements on ensemble nanotube samples only provide averaged behavior (18–20). Recent absorption studies of individual nanotubes, suffering from small absorption signals and/or slow laser-frequency scanning, cannot determine the absolute absorption cross-section and are limited in achievable spectral range (15, 21–23).We demonstrate here a high-sensitivity polarization-based homodyne method to measure nanotube absorption spectra. By manipulating the light polarization, we enhanced the nanotube-induced transmission contrast, ΔI/I, by two orders of magnitude, and this enhanced transmission contrast can be quantitatively related to nanotube absorption cross-section along and perpendicular to the nanotube axis. Using this polarization control together with supercontinuum laser source, we realized high-throughput and broadband absorption measurements at the single-tube level; combined with electron diffraction technique on the same tube, it enables absolute determination of absorption cross-sections of individual chirality-defined nanotubes, to our knowledge for the first time. We obtained quantitative absorption spectra of over 50 SWNTs of different chiralities, and established a phenomenological formula for absorption cross-sections of different nanotubes. The chirality-dependent nanotube absorption spectra reveal unique 1D photophysics in nanotubes, including a universal scaling behavior of exciton oscillator strength and of exciton resonance linewidth.     

唑来膦酸对大鼠骨髓间充质干细胞增殖及 成骨分化的作用研究

目的 研究唑来膦酸对大鼠骨髓间充质干细胞（BMSCs）增殖及成骨分化的作用。方法 取大鼠BMSCs体外原代培养,使用含不同浓度（1、5、10、20 μmol·L ^-1）唑来膦酸的成骨诱导培养基干预细胞作为实验组,不含唑来膦酸的培养基干预细胞作为对照组。CCK-8检测各组细胞增殖活性;茜素红和碱性磷酸酶染色检测各组细胞成骨分化能力;实时荧光定量聚合酶链反应（qRT-PCR）检测各组细胞碱性磷酸酶（ALP）、骨形态发生蛋白2（BMP-2）、Ⅰ型胶原酶（COL-Ⅰ）、Runt相关转录因子2（Runx-2）、锌指结构转录因子（Osx）、骨钙蛋白（OCN）、骨桥蛋白（OPN）的mRNA表达量。结果 1 μmol·L ^-1唑来膦酸对BMSCs的增殖、成骨分化无影响,与对照组比较差异无统计学意义（P>0.05）。浓度大于1 μmol·L ^-1唑来膦酸抑制BMSCs的增殖和成骨分化,且抑制作用呈浓度依赖性,与对照组比较差异有统计学意义（P<0.05）。当唑来膦酸浓度为5 μmol·L ^-1时,ALP、BMP-2、COL-Ⅰ等成骨相关基因的表达量高于对照组（P<0.05）,而当唑来膦酸浓度大于5 μmol·L ^-1时,成骨相关基因的表达量低于对照组（P<0.05）。结论 低浓度唑来膦酸对BMSCs增殖和成骨分化无影响,5 μmol·L ^-1唑来膦酸抑制BMSCs增殖但促进其成骨分化,高浓度唑来膦酸抑制BMSCs的增殖和成骨分化。     

A facile preparation method for new two-component supramolecular hydrogels and their performances in adsorption,catalysis, and stimuli-response

In this study, we prepared a novel multifunctional two-component supramolecular hydrogel (T-G hydrogel) via two organic molecules in ethanol/water mixed solvents. In addition, we prepared gold nanoparticle/T-G (AuNPs/T-G) composite hydrogels using T-G hydrogel as a template for stabilizing AuNPs by adding HAuCl₄ and NaBH₄ during the heating and cooling process of T-G hydrogels. The morphology and microstructure of the as-prepared hydrogels were characterized using SEM, TEM, XRD, and FT-IR. The hydrogels prepared by solutions that contained different ethanol/water volume ratios exhibited different microstructures, such as sheets, strips, and rods. The obtained T-G hydrogels exhibited a sensitive response to pH changes in the process of sol–gel transformation and showed good adsorption properties for model organic dyes. In the presence of NaBH₄, the obtained AuNP/T-G composite hydrogels exhibited the excellent catalytic performance for 4-nitrophenol (4-NP) degradation. Thus, the current research provides new clues in developing new multifunctional two-component supramolecular gel materials and exhibits potential applications for wastewater treatment.

New two-component supramolecular hydrogels were prepared via a self-assembly process, demonstrating potential applications in adsorption and catalysis as well as sensor materials.     

伏立康唑联合卡泊芬净治疗儿童白血病合并侵袭性真菌病疗效分析

目的:研究伏立康唑和卡泊芬净联合治疗儿童白血病化疗期间侵袭性真菌病(IFD)的临床疗效和安全性。方法:选取2015-2018年在我院接受抗侵袭性真菌感染治疗的41例白血病患儿,分为联合治疗组22例和伏立康唑组19例,其中联合治疗组患儿采用卡泊芬净联合伏立康唑治疗,伏立康唑组采用伏立康唑单独治疗,比较两组患儿用药后的治疗效果、感染死亡的风险因素和不良反应发生率。结果:联合治疗组与伏立康唑组临床有效率分别为77.3% 和36.9%,差异有统计学意义(P<0.05);联合治疗组死于感染相关因素的患儿少于伏立康唑组(P<0.05),治疗方式是IFD致死的风险因素(P<0.05);联合治疗组患儿出现肾功能和消化系统损伤的概率小于伏立康唑组(P<0.05)。结论:泊芬净和伏立康唑联合治疗儿童白血病合并侵袭性真菌感染的临床效果较好,可降低病死率和不良反应发生率。