Differential aberrant sprouting in temporal lobe epilepsy with psychiatric co-morbidities

Psychiatric co-morbidities in epilepsy are common in patients with temporal lobe epilepsy (TLE). Pathological alterations in TLE are well characterised; however, neuropathologic data are relatively scale regarding the association between psychiatric diseases and epilepsy. Our objective was to evaluate the clinical data of 46 adult TLE patients with and without psychiatric co-morbidities and to correlate the data with hippocampal neuronal density and mossy fiber sprouting. Accordingly, patients were grouped as follows: TLE patients without history of psychiatric disorder (TLE, n = 16), TLE patients with interictal psychosis (TLE + P, n = 14), and TLE patients with major depression (TLE + D, n = 16). Hippocampi from autopsies served as non-epileptic controls (n = 10). TLE + P exhibited significantly diminished mossy fiber sprouting and decreased neuronal density in the entorhinal cortex when compared with TLE. TLE + P showed significantly poorer results in verbal memory tasks. TLE + D exhibited significantly increased mossy fiber sprouting length when compared with TLE and TLE + P. Further, a higher proportion of TLE + D and TLE + P presented secondarily generalised seizures than did TLE. Our results indicate that TLE patients with psychiatric disorders have distinct features when compared with TLE patients without psychiatric co-morbidities and that these changes may be involved in either the manifestation or the maintenance of psychiatric co-morbidities in epilepsy. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.

Underlying Event measurements in pp collisions at root s=0.9 and 7 TeV with the ALICE experiment at the LHC

We present measurements of Underlying Event observables in pp collisions at root s = 0 : 9 and 7 TeV. The analysis is performed as a function of the highest charged-particle transverse momentum p(T),L-T in the event. Different regions are defined with respect to the azimuthal direction of the leading (highest transverse momentum) track: Toward, Transverse and Away. The Toward and Away regions collect the fragmentation products of the hardest partonic interaction. The Transverse region is expected to be most sensitive to the Underlying Event activity. The study is performed with charged particles above three different p(T) thresholds: 0.15, 0.5 and 1.0 GeV/c. In the Transverse region we observe an increase in the multiplicity of a factor 2-3 between the lower and higher collision energies, depending on the track p(T) threshold considered. Data are compared to PYTHIA 6.4, PYTHIA 8.1 and PHOJET. On average, all models considered underestimate the multiplicity and summed p(T) in the Transverse region by about 10-30%.

Ocular manifestations of Noonan syndrome

Purpose: To describe the ophthalmological characteristics in a group of Noonan syndrome patients with proven mutations in the PTPN11 gene. Methods: Thirty-five Noonan syndrome patients with PTPN11 gene mutations underwent ophthalmological exams, which consisted of external inspection, slit-lamp biomicroscopy examination and an ophthalmoscopic examination after instillation of 1.0% tropicamide or 1.0% cyclopentolate. Results: All 35 patients had at least one abnormality upon ophthalmological examination. The eyelid and external eye abnormalities were the prevailing features, followed by prominent corneal nerves on slit-lamp exam. Fundus changes were detected in 8% of the subjects, mainly associated with high myopia. No statistically significant differences were observed among the patients presenting specific mutations in the PTPN11 gene. Conclusions: The current study further supports the finding that ocular symptoms account for a large fraction of the clinical manifestations of NS. Additional characteristics are described here. The roles for the various mutations of PTPN11 in ocular development are yet to be established.

Motor Neuron Disease and Acquired Axonal Neuropathy Association in HIV Infection: Case Report and Update

Background: A possible viral etiology has been documented in the genesis of motor neuron disorders and acquired peripheral neuropathies, mainly due to the vulnerability of peripheral nerves and the anterior horn to certain viruses. In recent years, several reports show association of HIV infection with Amyotrophic Lateral Sclerosis Syndrome, Motor Neuron Diseases and peripheral neuropathies. Objective: To report a case of an association between Motor Neuron Disease and Acquired Axonal neuropathy in HIV infection, and describe the findings of neurological examination, cerebrospinal fluid, neuroimaging and electrophysiology. Methods: The patient underwent neurological examination. General medical examinations were performed, including, specific neuromuscular tests, analysis of cerebrospinal fluid, muscle biopsy and imaging studies. Results and Discussion: The initial clinical presentation of our case was marked by cramps and fasciculations with posterior distal paresis and atrophy in the left arm. We found electromyography tracings with deficits in the anterior horn of the spinal cord and peripheral nerves. Dysphagia and release of primitive reflexes were also identified. At the same time, the patient was informed to be HIV positive with high viral load. He received antiretroviral therapy, with load control but with no clinical remission. Conclusion: Motor Neuron disorders and peripheral neuropathy may occur in association with HIV infection. However, a causal relationship remains uncertain. It is noteworthy that the antiretroviral regimen may be implicated in some cases.

Measurement of prompt J/psi and beauty hadron production cross sections at mid-rapidity in pp collisions at root s=7 TeV

The ALICE experiment at the LHC has studied J/psi production at mid-rapidity in pp collisions at root s = 7 TeV through its electron pair decay on a data sample corresponding to an integrated luminosity L-int = 5.6 nb(-1). The fraction of J/psi from the decay of long-lived beauty hadrons was determined for J/psi candidates with transverse momentum p(t) > 1,3 GeV/c and rapidity vertical bar y vertical bar < 0.9. The cross section for prompt J/psi mesons, i.e. directly produced J/psi and prompt decays of heavier charmonium states such as the psi(2S) and chi(c) resonances, is sigma(prompt J/psi) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 8.3 +/- 0.8(stat.) +/- 1.1 (syst.)(-1.4)(+1.5) (syst. pol.) mu b. The cross section for the production of b-hadrons decaying to J/psi with p(t) > 1.3 GeV/c and vertical bar y vertical bar < 0.9 is a sigma(J/psi <- hB) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 1.46 +/- 0.38 (stat.)(-0.32)(+0.26) (syst.) mu b. The results are compared to QCD model predictions. The shape of the p(t) and y distributions of b-quarks predicted by perturbative QCD model calculations are used to extrapolate the measured cross section to derive the b (b) over bar pair total cross section and d sigma/dy at mid-rapidity.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.

Monitoramento por imagem de ressonância magnética do crescimento tumoral no modelo C6 de glioblastoma com perspectivas de avaliação da terapia de magnetohipertemia

Objetivo: Estabelecer um padrão de crescimento tumoral (volume) em ratos Wistar submetidos ao modelo C6 de glioblastoma multiforme por meio de imagens de ressonância magnética para posterior verificação de redução de volume tumoral com a terapia de magnetohipertermia. Métodos: Para o modelo C6, utilizamos ratos Wistar, machos, jovens, pesando entre 250 e 300 g. Após anestesiados (cetamina 55 mg/kg e xilazina 11 mg/kg) foram injetadas estereotaxicamente células tumorigênicas linhagem C6 suspensas em meio de cultura (105 células em 10 µL) no córtex frontal direito (coordenadas a partir do bregma: anteroposterior = 2,0 mm; látero-lateral = 3,0 mm; profundidade = 2,5 mm) com uma seringa Hamilton. No Grupo Controle, houve a injeção do meio de cultura sem as células. Posteriormente, foram feitas imagens mediante a técnica de imagem por ressonância magnética em 14, 21 e 28 dias após a injeção em um escâner de imagem por ressonância magnética 2.0 T (Bruker BioSpec, Germany). Para o exame, os animais foram anestesiados com cetamina 55 mg/kg e xilazina 11 mg/kg. Multifatias coronais foram adquiridas utilizando uma sequência spin-echo padrão com os seguintes parâmetros: TR/TE = 4,000 ms/67,1 ms, FOV = 3,50, Matrix 192, slice thickness = 0,4 mm e slice separation = 0 mm. Resultados: A análise das imagens de ressonância magnética do tumor possibilitou a clara visualização da massa tumoral, sendo possível ainda estabelecer parâmetros de volume tumoral nos diferentes dias analisados. O volume de 14 dias após a indução do foi de 13,7 ± 2,5 mm3 . Aos 21 dias, o volume alcançado foi de 31,7 ± 6,5 mm3 e, aos 28 dias, a massa tumoral atingiu 122,1 ± 11,8 mm3 . Conclusão: Estes resultados mostraram a possiblidade de avaliação do volume tumoral no modelo C6 em ratos, o que possibilitará, no futuro, a aplicação da terapia de magnetohipertermia bem como verificação de seus resultados.

Monitoramento in vivo por imagem por ressonância magnética de células C6 de glioma marcadas com nanopartículas superparamagnéticas de óxido de ferro

OBJECTIVE: The aim of the current study was to monitor the migration of superparamagnetic iron oxide nanoparticle (SPION)-labeled C6 cells, which were used to induce glioblastoma tumor growth in an animal model, over time using magnetic resonance imaging (MRI), with the goal of aiding in tumor prognosis and therapy. METHODS: Two groups of male Wistar rats were used for the tumor induction model. In the first group (n=3), the tumors were induced via the injection of SPION-labeled C6 cells. In the second group (n=3), the tumors were induced via the injection of unlabeled C6 cells. Prussian Blue staining was performed to analyze the SPION distribution within the C6 cells in vitro. Tumor-inducing C6 cells were injected into the right frontal cortex, and subsequent tumor monitoring and SPION detection were performed using T2- and T2*-weighted MRI at a 2T field strength. In addition, cancerous tissue was histologically analyzed after performing the MRI studies. RESULTS: The in vitro qualitative evaluation demonstrated adequate distribution and satisfactory cell labeling of the SPIONs. At 14 or 21 days after C6 injection, a SPION-induced T2- and T2*-weighted MRI signal reduction was observed within the lesion located in the left frontal lobe on parasagittal topography. Moreover, histological staining of the tumor tissue with Prussian Blue revealed a broad distribution of SPIONs within the C6 cells. CONCLUSION: MRI analyses exhibit potential for monitoring the tumor growth of C6 cells efficiently labeled with SPIONs.

Genome sequence of Xanthomonas fuscans subsp. fuscans strain 4834-R reveals that flagellar motility is not a general feature of xanthomonads

Abstract Background Xanthomonads are plant-associated bacteria responsible for diseases on economically important crops. Xanthomonas fuscans subsp. fuscans (Xff) is one of the causal agents of common bacterial blight of bean. In this study, the complete genome sequence of strain Xff 4834-R was determined and compared to other Xanthomonas genome sequences. Results Comparative genomics analyses revealed core characteristics shared between Xff 4834-R and other xanthomonads including chemotaxis elements, two-component systems, TonB-dependent transporters, secretion systems (from T1SS to T6SS) and multiple effectors. For instance a repertoire of 29 Type 3 Effectors (T3Es) with two Transcription Activator-Like Effectors was predicted. Mobile elements were associated with major modifications in the genome structure and gene content in comparison to other Xanthomonas genomes. Notably, a deletion of 33 kbp affects flagellum biosynthesis in Xff 4834-R. The presence of a complete flagellar cluster was assessed in a collection of more than 300 strains representing different species and pathovars of Xanthomonas. Five percent of the tested strains presented a deletion in the flagellar cluster and were non-motile. Moreover, half of the Xff strains isolated from the same epidemic than 4834-R was non-motile and this ratio was conserved in the strains colonizing the next bean seed generations. Conclusions This work describes the first genome of a Xanthomonas strain pathogenic on bean and reports the existence of non-motile xanthomonads belonging to different species and pathovars. Isolation of such Xff variants from a natural epidemic may suggest that flagellar motility is not a key function for in planta fitness.

Management of Port Solid Waste Framework

One of contemporary environmental issues refers to progressive and diverse generation of solid waste in urban areas or specific, and requires solutions because the traditional methods of treatment and disposal are becoming unviable over the years and, consequently, a significant contingent of these wastes presents final destination inappropriate. The diversity of solid waste generated as a result of human activities must have the appropriate allocation to specific legislation in force, such as landfill, incineration, among other procedures established by the competent bodies. Thus, also the waste generated in port activities or proceeding vessels require classification and segregation for proper disposal later. This article aims at presenting a methodology for the collection, transportation, treatment and disposal of solid waste port and also application of automation technology that makes possible the implementation of the same.

Incorporating IT & AT Convergence into Lean Thinking/Six Sigma via the Smarter Operation Transformation (SOT) Methodology

The growing demands for industrial products are imposing an increasingly intense level of competitiveness on the industrial operations. In the meantime, the convergence of information technology (IT) and automation technology (AT) is showing itself to be a tool of great potential for the modernization and improvement of industrial plants. However, for this technology fully to achieve its potential, several obstacles need to be overcome, including the demonstration of the reasoning behind estimations of benefits, investments and risks used to plan the implementation of corporative technology solutions. This article focuses on the evolutionary development of planning and adopting processes of IT & AT convergence. It proposes the incorporation of IT & AT convergence practices into Lean Thinking/Six Sigma, via the method used for planning the convergence of technological activities, known as the Smarter Operation Transformation (SOT) methodology. This article illustrates the SOT methodology through its application in a Brazilian company in the sector of consumer goods. In this application, it is shown that with IT & AT convergence is possible with low investment, in order to reduce the risk of not achieving the goals of key indicators.

Präparation, Charakterisierung und elektronische Eigenschaften von dünnen Schichten des Hochtemperatursupraleiters HgReBa 2 Ca n-1 Cu n O y

Ziel dieser Arbeit war die Pr"{a}paration, Charakterisierung und Untersuchung der elektronischen Eigenschaften von d"{u}nnen Schichten des Hochtemperatursupraleiters HgReBa$_{2}$Ca$_{n-1}$Cu$_{n}$O$_{y}$, die mittels gepulster Laser-Deposition hergestellt wurden. Die HgRe1212-Filme zeigen in der AC-Suszeptibilit"{a}t einen scharfen "{U}bergang in die supraleitende Phase bei 124 K mit einer "{U}bergangsbreite von 2 K. Die resistiven "{U}berg"{a}nge der Proben wurden mit zunehmender St"{a}rke des externen Magnetfeldes breiter. Aus der Steigung der Arrheniusplots konnte die Aktivierungsenergie f"{u}r verschiedene Feldst"{a}rken bestimmt werden. Weiterhin wurde die Winkelabh"{a}ngigkeit des Depinning-Feldes $B_{dp}(theta)$ der Filme gemessen. Hieraus wurde ein Anisotropiewert von $gamma$ = 7.7 bei 105 K ermittelt. Dies ist relevant, um den f"{u}r Anwendungen wichtigen Bereich im $T$-$B$-$theta$-Phasenraum des Materials absch"{a}tzen zu k"{o}nnen. Die kritische Stromdichte $J_{c}$ der d"{u}nnen Filme aus HgRe-1212 wurde mit Hilfe eines SQUID-Magnetometers gemessen. Die entsprechenden $M$-$H$ Kurven bzw. das magnetische Moment dieser Filme wurde f"{u}r einen weiten Temperatur- und Feldbereich mit einem magnetischen Feld senkrecht zum Film aufgenommen. F"{u}r einen HgRe-1212-Film konnte bei 5 K eine kritische Stromdichte von 1.2 x 10$^{7}$ A/cm$^{2}$ und etwa 2 x 10$^{6}$ A/cm$^{2}$ bei 77 K ermittelt werden. Es wurde die Magnetfeld- und die Temperaturabh"{a}ngigkeit des Hall-Effekts im normalleitenden und im Mischzustand in Magnetfeldern senkrecht zur $ab$-Ebene bis zu 12 T gemessen. Oberhalb der kritischen Temperatur $T_{c}$ steigt der longitudinale spezifische Widerstand $rho_{xx}$ linear mit der Temperatur, w"{a}hrend der spezifische Hall-Widerstand $rho_{yx}$ sich umgekehrt proportional zur Temperatur "{a}ndert. In der N"{a}he von $T_{c}$ und in Feldern kleiner als 3 T wurde eine doppelte Vorzeichen"{a}nderung des spezifischen Hall-Widerstandes beobachtet. Der Hall-Winkel im Normalzustand, cot $theta_{H}= alpha T^{2} + beta$, folgt einer universellen $textit{T }^{2}$-Abh"{a}ngigkeit in allen magnetischen Feldern. In der N"{a}he des Nullwiderstand-Zustandes h"{a}ngt der spezifische Hall-Widerstand $rho_{yx}$ "{u}ber ein Potenzgesetz mit dem longitudinalen Widerstand $rho_{xx}$ zusammen. Das Skalenverhalten zwischen $rho_{yx}$ und $rho_{xx}$ weist eine starke Feld-Abh"{a}ngigkeit auf. Der Skalenexponent $beta$ in der Gleichung $rho_{yx}$ =A $rho_{xx}^{beta}$ steigt von 1.0 bis 1.7, w"{a}hrend das Feld von 1.0 bis 12 T zunimmt.

BPAG1 isoform-b: Complex distribution pattern in striated and heart muscle and association with plectin and α-actinin

BPAG1-b is the major muscle-specific isoform encoded by the dystonin gene, which expresses various protein isoforms belonging to the plakin protein family with complex, tissue-specific expression profiles. Recent observations in mice with either engineered or spontaneous mutations in the dystonin gene indicate that BPAG1-b serves as a cytolinker important for the establishment and maintenance of the cytoarchitecture and integrity of striated muscle. Here, we studied in detail its distribution in skeletal and cardiac muscles and assessed potential binding partners. BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated and heart muscle cells, co-localizing with the sarcomeric Z-disc protein alpha-actinin-2 and partially with the cytolinker plectin as well as with the intermediate filament protein desmin. Ultrastructurally, like alpha-actinin-2, BPAG1-b was predominantly localized at the Z-discs, adjacent to desmin-containing structures. BPAG1-b was able to form complexes with both plectin and alpha-actinin-2, and its NH(2)-terminus, which contains an actin-binding domain, directly interacted with that of plectin and alpha-actinin. Moreover, the protein level of BPAG1-b was reduced in muscle tissues from plectin-null mutant mice versus wild-type mice. These studies provide new insights into the role of BPAG1-b in the cytoskeletal organization of striated muscle.

Epicardial ventricular tachycardia ablation a multicenter safety study

The aim of this study was to perform a systematic evaluation of safety and midterm complications after epicardial ventricular tachycardia (VT) ablation.