Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.

Amyotrophic lateral sclerosis (ALS) is a disorder with strong clinical and genetic heterogeneity, and its pathogenic mechanism has not been completely clarified. Proximal myopathy is rare in clinical manifestations of ALS. Here, we describe a 34-year-old woman with a 1-year history of symmetrical, proximal limb weakness, and muscle atrophy, with slow progression and no upper motor neuron (UMN) signs. The clinical phenotype was similar to myopathy and was initially misdiagnosed as proximal myopathy. Electromyography (EMG) and muscle and nerve biopsy were performed. The genomic DNA from the patient's peripheral blood lymphocytes was analyzed. The EMG and pathologic examinations revealed chronic neurogenic changes and mild mixed peripheral neuropathy. DNA analysis revealed a heterozygous missense mutation in exon 1 at codon 50 (c.50>C) of SOD1, and a heterozygous missense mutation in exon 11 at codon 1013 (c.1013G>A) of CPT1C that has not been reported previously. The patient was diagnosed as familial ALS (FALS) type 1, and the patient had a family history of autosomal dominant (AD) pattern. This report expands the knowledge of the clinical phenotype of FALS. For patients with clinical manifestations mimicking proximal myopathy, the possibility of underlying ALS should be considered.

Experimental test of genuine multipartite nonlocality under the no-signalling principle.

Genuine multipartite nonlocality (GMN) has been recognized as the strongest form of multipartite quantum correlation. However, there exist states that cannot violate the Svetlichny inequality derived from the standard definition of GMN, even though they possess GMN properties. The reason is that the standard definition of GMN allows correlations that permit signalling among parties, which is inconsistent with an operational definition. Here, for the first time, we present an experimental test of GMN in the no-signalling scenario, with a three-photon pure state |ψs〉 and a noisy W state. The experimental results show that these states cannot violate the Svetlichny inequality. However, our results also demonstrate that they do violate a new inequality derived from the definition of GMN based on the no-signalling principle, i.e., these states can exhibit GMN under the requirement of no-signalling. Our results will be useful for the study and applications of GMN in quantum communications and quantum computation.

Generation and applications of an ultrahigh-fidelity four-photon Greenberger-Horne-Zeilinger state.

High-quality entangled photon pairs generated via spontaneous parametric down-conversion have made great contributions to the modern quantum information science and the fundamental tests of quantum mechanics. However, the quality of the entangled states decreases sharply when moving from biphoton to multiphoton experiments, mainly due to the lack of interactions between photons. Here, for the first time, we generate a four-photon Greenberger-Horne-Zeilinger state with a fidelity of 98%, which is even comparable to the best fidelity of biphoton entangled states. Thus, it enables us to demonstrate an ultrahigh-fidelity entanglement swapping-the key ingredient in various quantum information tasks. Our results push the fidelity of multiphoton entanglement generation to a new level and would be useful in some demanding tasks, e.g., we successfully demonstrate the genuine multipartite nonlocality of the observed state in the nonsignaling scenario by violating a novel Hardy-like inequality, which requires very high state-fidelity.

Dynamics of quantum correlation between separated nitrogen-vacancy centers embedded in plasmonic waveguide.

We investigate the dynamics of quantum correlation between two separated nitrogen vacancy centers (NVCs) placed near a one-dimensional plasmonic waveguide. As a common medium of the radiation field of NVCs propagating, the plasmonic waveguide can dynamically induce quantum correlation between the two NVCs. It is interesting to find that such dynamically induced quantum correlation can be preserved in the long-time steady state by locally applying individual driving on the two NVCs. In particular, we also show that a large degree of quantum correlation can be established by this scheme even when the distance between the NVCs is much larger than their operating wavelength. This feature may open new perspectives for devising active decoherence-immune solid-state optical devices and long-distance NVC-based quantum networks in the context of plasmonic quantum electrodynamics.

Ursolic acid derivative ameliorates streptozotocin-induced diabestic bone deleterious effects in mice.

OBJECTIVE: This study was performed to investigate bone deteriorations of diabetic mice in response to the treatment of ursolic acid derivative (UAD). METHODS: The biomarkers in serum and urine were measured, tibias were taken for the measurement on gene and protein expression and histomorphology analysis, and femurs were taken for the measurement on bone Ca and three-dimensional architecture of trabecular bone. RESULTS: UAD showed a greater increase in bone Ca, BMD and significantly increased FGF-23 and OCN, reduced PTH and CTX in diabetic mice. UAD reversed STZ-induced trabecular deleterious effects and stimulated bone remodeling. The treatment of STZ group with UAD significantly elevated the ratio of OPG/RANKL. Moreover, insulin and IGF-1 showed a negative correlation with both FBG and Hb1Ac in STZ group. We attributed down-regulating the level of Hb1Ac in diabetic mice to that ursolic acid derivative could primely control blood sugar levels. After analyzing of two adipocyte markers, PPARγ and aP2, increased expression in the tibias of diabetic mice, and UAD could improve STZ-induced adipocyte dysfunction. CONCLUSIONS: These results demonstrated that UAD could ameliorate STZ-induced bone deterioration through improving adipocyte dysfunction and enhancing new bone formation and inhibiting absorptive function of osteoclast in the bone of diabetic mice.

Experimental investigation of classical and quantum correlations under decoherence.

It is well known that many operations in quantum information processing depend largely on a special kind of quantum correlation, that is, entanglement. However, there are also quantum tasks that display the quantum advantage without entanglement. Distinguishing classical and quantum correlations in quantum systems is therefore of both fundamental and practical importance. In consideration of the unavoidable interaction between correlated systems and the environment, understanding the dynamics of correlations would stimulate great interest. In this study, we investigate the dynamics of different kinds of bipartite correlations in an all-optical experimental setup. The sudden change in behaviour in the decay rates of correlations and their immunity against certain decoherences are shown. Moreover, quantum correlation is observed to be larger than classical correlation, which disproves the early conjecture that classical correlation is always greater than quantum correlation. Our observations may be important for quantum information processing.

On-capillary chemiluminescence detection for capillary electrophoresis with a single capillary.

On-capillary chemiluminescence detection for capillary electrophoresis with a single capillary was reported. A hole (about 30 microm diameter) was made on the capillary wall at about 50.5 cm from the inlet end. Hydrogen peroxide solution could enter the capillary from the hole, and mixed with luminol and copper(II) to produce chemiluminescence. The chemiluminescence was detected by a PMT under the hole. Several factors that influenced chemiluminescence intensity were investigated. The detection limits for luminol and N-(4-aminolbutyl)-N-ethylisoluminol (ABEI) were 1 x 10(-11) and 2 x 10(-10) mol L(-1), respectively. The method features simple construction and no dead volume.

In-capillary solid-phase extraction-capillary electrophoresis for the determination of chlorophenols in water.

A novel CE method combined with SPE in a single capillary was developed for analysis of chlorophenols in water. A frit of 0.5 mm was first made by a sol-gel method, followed by packing a SPE sorbent in the inlet end of the capillary. Two phenol derivatives, 2,4-dichlorophenol and 2,4,5-trichlorophenol, were used as the model compounds. By loading sample solutions into the capillary, the two chlorophenols were extracted into the sorbent. They were desorbed by injecting only about 4 nL of methanol. Finally, the analytes were separated by conventional CE. The technique provided a concentration enhancement factor of over 4000-fold for both chlorophenols. The detection limits (S/N = 3) of 2,4-dichlorophenol and 2,4,5-trichlorophenol were determined to be 0.1 ng/mL and 0.07 ng/mL, respectively. For replicate analyses of 5 ng/mL of 2,4-dichlorophenol, within-day and between-day RSDs of migration time, peak height and peak area were in the range of 1.8-2.0%, 4.0-4.4% and 4.1-4.6%, respectively. The method shows wide linear range, acceptable reproducibility and excellent sensitivity, and it was applied to the analyses of spiked river water samples. The capillary packed with the SPE sorbents can be used for more than 400 runs without performance deterioration.

Isoelectric focusing sample injection for capillary zone electrophoresis in a fused silica capillary.

An improvement has been made to couple isoelectric focusing (IEF) sample injection and capillary zone electrophoresis in an untreated fused silica capillary. Electroosmotic flow is efficiently prevented by simply using a rubber block at the outlet end of the capillary during IEF sample injection. The experimental conditions that affect the concentration effect are discussed. A concentration enhancement factor of over 100-fold can be easily obtained for two model proteins: lysozyme and ribonuclease A.