SPG10 is a rare cause of spastic paraplegia in European families

Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date.Objective: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype.Patients and methods: 80 index patients from families with autosomal dominant HSP were investigated for SPG10 mutations by direct sequencing of the KIF5A motor domain. Additionally, the whole gene was sequenced in 20 of these families.Results: Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). Onset of gait disturbance varied from infancy to 30 years of age. All patients presented clinically with pure HSP, but a subclinical sensory--motor neuropathy was detected by neurophysiology studies.Conclusions: SPG10 accounts for approximately 3% of European autosomal dominant HSP families. All mutations affect the motor domain of kinesin and thus most likely impair axonal transport. Clinically, SPG10 is characterised by spastic paraplegia with mostly subclinical peripheral neuropathy

The origin of paramagnetic magnetization in field-cooled YBa2Cu3O7 films

Temperature dependences of the magnetic moment have been measured in YBa_2Cu_3O_{7-\delta} thin films over a wide magnetic field range (5 <= H <= 10^4 Oe). In these films a paramagnetic signal known as the paramagnetic Meissner effect has been observed. The experimental data in the films, which have strong pinning and high critical current densities (J_c ~ 2 \times 10^6 A/cm^2 at 77 K), are quantitatively shown to be highly consistent with the theoretical model proposed by Koshelev and Larkin [Phys. Rev. B 52, 13559 (1995)]. This finding indicates that the origin of the paramagnetic effect is ultimately associated with nucleation and inhomogeneous spatial redistribution of magnetic vortices in a sample which is cooled down in a magnetic field. It is also shown that the distribution of vortices is extremely sensitive to the interplay of film properties and the real experimental conditions of the measurements.Comment: RevTex, 8 figure

Paramagnetic Meissner Effect in Multiply-Connected Superconductors

We have measured a paramagnetic Meissner effect in Nb-Al2O3-Nb Josephson junction arrays using a scanning SQUID microscope. The arrays exhibit diamagnetism for some cooling fields and paramagnetism for other cooling fields. The measured mean magnetization is always less than 0.3 flux quantum (in terms of flux per unit cell of the array) for the range of cooling fields investigated. We demonstrate that a new model of magnetic screening, valid for multiply-connected superconductors, reproduces all of the essential features of paramagnetism that we observe and that no exotic mechanism, such as d-wave superconductivity, is needed for paramagnetism.Comment: 4 pages, 3 figures, LaTe

Aging Effect in Ceramic Superconductors

A three-dimensional lattice of the Josephson junctions with a finite self-conductance is employed to model ceramic superconductors. Using Monte Carlo simulations it is shown that the aging disappears in the strong screening limit. In the weeak screening regime aging is present even at low temperatures. For intermediate values of the self-inductance aging occurs at intermediate temperatures interval but is suppressed entirely at high and low temperatures. Our results are in good agreement with experiments.Comment: 5 pages, 5 eps figures, to appear in Physical Review Letter

Techno-functional, textural and sensorial properties of frankfurters as affected by the addition of bee pollen powder

The objective of this study was to determine whether the addition of different pollen powder concentrations (0.5; 1.0 and 1.5 g/100 g) had an influence on techno-functional, textural and sensorial traits of frankfurters. Examining the techno-functional characteristics of pollen, a conclusion was reached that the higher the concentration, the higher the emulsification and better techno-functional properties. Also, FTIR-ATR analysis has shown that specific pollen molecules provided good emulsifying properties of sausages. On the other hand, sensory analysis showed that sausages with the addition of 1.0% and 1.5% of pollen powder have a more pronounced floral odor. Warner-Bratzler shear force test has shown that the incorporation of pollen caused a more stable product throughout sixty days of storage than the control sample. It could be explained by the formation of more protein-protein interactions due to the addition of non-meat proteins in the formulation of frankfurters and obtaining a more stable product than the control one. All things considered, it can be concluded that pollen exhibits good techno-functional properties and could be utilized in the formulation of frankfurters with improved and steady techno-functional properties during two months of refrigerated storage

Influence of attention alternation on movement-related cortical potentials in healthy individuals and stroke patients.

OBJECTIVE: In this study, we analyzed the influence of artificially imposed attention variations using the auditory oddball paradigm on the cortical activity associated to motor preparation/execution. METHODS: EEG signals from Cz and its surrounding channels were recorded during three sets of ankle dorsiflexion movements. Each set was interspersed with either a complex or a simple auditory oddball task for healthy participants and a complex auditory oddball task for stroke patients. RESULTS: The amplitude of the movement-related cortical potentials (MRCPs) decreased with the complex oddball paradigm, while MRCP variability increased. Both oddball paradigms increased the detection latency significantly (p<0.05) and the complex paradigm decreased the true positive rate (TPR) (p=0.04). In patients, the negativity of the MRCP decreased while pre-phase variability increased, and the detection latency and accuracy deteriorated with attention diversion. CONCLUSION: Attention diversion has a significant influence on MRCP features and detection parameters, although these changes were counteracted by the application of the laplacian method. SIGNIFICANCE: Brain-computer interfaces for neuromodulation that use the MRCP as the control signal are robust to changes in attention. However, attention must be monitored since it plays a key role in plasticity induction. Here we demonstrate that this can be achieved using the single channel Cz

Evaluation of tolerance to lentiviral LV-RPE65 gene therapy vector after subretinal delivery in non-human primates.

Several approaches have been developed for gene therapy in RPE65-related Leber congenital amaurosis. To date, strategies that have reached the clinical stages rely on adeno-associated viral vectors and two of them documented limited long-term effect. We have developed a lentiviral-based strategy of RPE65 gene transfer that efficiently restored protein expression and cone function in RPE65-deficient mice. In this study, we evaluated the ocular and systemic tolerances of this lentiviral-based therapy (LV-RPE65) on healthy nonhuman primates (NHPs), without adjuvant systemic anti-inflammatory prophylaxis. For the first time, we describe the early kinetics of retinal detachment at 2, 4, and 7 days after subretinal injection using multimodal imaging in 5 NHPs. We revealed prolonged reattachment times in LV-RPE65-injected eyes compared to vehicle-injected eyes. Low- (n = 2) and high-dose (n = 2) LV-RPE65-injected eyes presented a reduction of the outer nuclear and photoreceptor outer segment layer thickness in the macula, that was more pronounced than in vehicle-injected eyes (n = 4). All LV-RPE65-injected eyes showed an initial perivascular reaction that resolved spontaneously within 14 days. Despite foveal structural changes, full-field electroretinography indicated that the overall retinal function was preserved over time and immunohistochemistry identified no difference in glial, microglial, or leucocyte ocular activation between low-dose, high-dose, and vehicle-injected eyes. Moreover, LV-RPE65-injected animals did not show signs of vector shedding or extraocular targeting, confirming the safe ocular restriction of the vector. Our results evidence a limited ocular tolerance to LV-RPE65 after subretinal injection without adjuvant anti-inflammatory prophylaxis, with complications linked to this route of administration necessitating to block this transient inflammatory event

Agricultural Academy

Diversity of the fi sh species important for fi shery on the territory of Serbia has changed both spatially and temporally. Temporal changes are connected with historical and anthropogenic factors, while spatial changes are mostly the results of anthropogenic activity. Based on the analysis of the &quot;BAES-ex situ&quot; national database, there are two temporal and spatial periods. The fi rst period (from 1860 to 1950) is characterised by great diversity of the fi sh species important for fi shery in natural ecosystems, above all in rivers. The second period (from 1950 until today) is characterised by reduction in the diversity of the fi sh species important for fi shery, especially sturgeon species, in natural ecosystems, predominantly rivers, and the increasing diversity in anthropogenic water ecosystems. The increasing diversity in accumulations is predominantly related to Cyprinidae and Percidae species. The reduction in diversity in natural ecosystems is most often the result of irrational fi shery, habitat degradation, prominent anthropogenic infl uence and presence of introduced species. Many species important for fi shery are, according to the newest legal regulations of the Republic of Serbia, classifi ed in the category of strictly protected and protected species, and the permanent close hunting season or close season in certain periods and ban on hunting for individuals below prescribed size was declared for many of them. Taking into consideration prominent reduction in diversity, some of the fi sh species important for fi shery are also in &quot;The preliminary list of species for the Serbian red list of vertebrates&quot; because they are in danger of being extinct

Pseudogap formation of four-layer BaRuO3_3 and its electrodynamic response changes

We investiaged the optical properties of four-layer BaRuO$_{3}$, which shows a fermi-liquid-like behavior at low temperature. Its optical conductivity spectra clearly displayed the formation of a pseudogap and the development of a coherent peak with decreasing temperature. Temperature-dependences of the density $n$ and the scattering rate $1/\tau$ of the coherent component were also derived. As the temperature decreases, both $n$ and $1/\tau$ decrease for four-layer BaRuO$_{3}$. These electrodynamic responses were compared with those of nine-layer BaRuO$_{3}$, which also shows a pseudogap formation but has an insulator-like state at low temperature. It was found that the relative rates of change of both $n$ and $1/\tau$ determine either metallic or insulator-like responses in the ruthenates. The optical properties of the four-layer ruthenate were also compared with those of other pseudogap systems, such as high $T_{c}$ cuprates and heavy electron systems.Comment: 7 figures. submitted to Phys. Rev.

Extending colonic mucosal microbiome analysis - Assessment of colonic lavage as a proxy for endoscopic colonic biopsies

This study was supported through GI Research funds and MRC Grant Ref: MR/M00533X/1 to GH.Peer reviewedPublisher PD