Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.

Phenylketonuria (PKU) is characterized by phenylalanine accumulation due to phenylalanine hydroxylase deficiency. Up to 50% of PKU patients experience seizures. We evaluated an adult PKU patient who suffered from absences and primarily generalized tonicclonic seizures, associated with generalized spikeand-wave discharges (GSWs) on EEG. An analysis of blood oxygenation level-dependent (BOLD) signal changes during interictal epileptiform discharges showed early activation of the left perirolandic cortex followed by a BOLD signal decrease within cortical regions belonging to the default mode network and left frontoparietal cortex. Moreover, deactivation of the head of the right caudate nucleus and the left thalamus was observed. The fMRI pattern observed in our patient during GSWs is similar but not identical to that observed in idiopathic generalized epilepsy, suggesting different neurophysiological mechanisms. This is the first description of BOLD-fMRI patterns in a PKU patient with epilepsy. Similar studies in more patients might help to uncover the pathophysiology of seizures in this disease

Plant communities of Italy. The vegetation prodrome

The Vegetation Prodrome of Italy was promoted in 2012 by the Italian "Ministry of Environment, Land and Sea Protection", in collaboration with the "Italian Society of Botany", to provide a comprehensive and systematic catalogue and description of Italian plant communities. The Prodrome that is presented in this paper is the first full organic synthesis of the vegetation of Italy at the alliance syntaxonomic level. It fulfils several needs, the main one being a unified and comprehensive national framework that may make an important contribution to the definition of the European Vegetation Prodrome. Syntaxonomy, as well as taxonomy, is sometimes based on considerations that may in part diverge: several authors tend to favour models that are divisive or aggregative to a greater or lesser extent in terms of flora, biogeography and ecology. These different points of view stimulate the scientific debate and allow the adoption of a framework that is more widely supported. The Prodrome includes 75 classes, 2 subclasses, 175 orders, 6 suborders and 393 alliances. The classes were grouped into nine broad categories according to structural, physiognomic and synecological elements rather than to syntaxonomic criteria. The rank, full valid name, any synonymies and incorrect names are provided for each syntaxon. The short declaration highlights the physiognomy, synecology, syndynamics and distribution of the plant communities that belong to the syntaxon. The Prodrome of the Italian Vegetation is linked to the European Strategy for Biodiversity, the European Habitats Directive and the European Working Groups related to the ecosystems and their services. In addition to basic applications, the Prodrome can be used as a framework for scientific research related to the investigation of the relationships between plant communities and the environmental factors that influence their composition and distribution

Mapping Cortical Degeneration in ALS with Magnetization Transfer Ratio and Voxel-Based Morphometry

Pathological and imaging data indicate that amyotrophic lateral sclerosis (ALS) is a multisystem disease involving several cerebral cortical areas. Advanced quantitative magnetic resonance imaging (MRI) techniques enable to explore in vivo the volume and microstructure of the cerebral cortex in ALS. We studied with a combined voxel-based morphometry (VBM) and magnetization transfer (MT) imaging approach the capability of MRI to identify the cortical areas affected by neurodegeneration in ALS patients. Eighteen ALS patients and 18 age-matched healthy controls were examined on a 1.5T scanner using a high-resolution 3D T1 weighted spoiled gradient recalled sequence with and without MT saturation pulse. A voxel-based analysis (VBA) was adopted in order to automatically compute the regional atrophy and MT ratio (MTr) changes of the entire cerebral cortex. By using a multimodal image analysis MTr was adjusted for local gray matter (GM) atrophy to investigate if MTr changes can be independent of atrophy of the cerebral cortex. VBA revealed several clusters of combined GM atrophy and MTr decrease in motor-related areas and extra-motor frontotemporal cortex. The multimodal image analysis identified areas of isolated MTr decrease in premotor and extra-motor frontotemporal areas. VBM and MTr are capable to detect the distribution of neurodegenerative alterations in the cortical GM of ALS patients, supporting the hypothesis of a multi-systemic involvement in ALS. MT imaging changes exist beyond volume loss in frontotemporal cortices

magnetization transfer imaging demonstrates a distributed pattern of microstructural changes of the cerebral cortex in amyotrophic lateral sclerosis

BACKGROUND AND PURPOSE: To date, damage of the cerebral cortex neurons in ALS was investigated by using conventional MR imaging and proton MR spectroscopy. We explored the capability of MTI to map the microstructural changes in cerebral motor and extramotor cortices of patients with ALS. MATERIALS AND METHODS: Twenty patients with ALS and 17 age-matched healthy controls were enrolled. A high-resolution 3D SPGR sequence with and without MT saturation pulses was obtained on a 1.5T scanner to compute MTR values. Using the FMRIB Software Library tools, we automatically computed the MTR of the cerebral cortex GM in 48 regions of the entire cerebral cortex derived from the standard Harvard-Oxford cortical atlas. RESULTS: The MTR values were significantly lower in patients with ALS than in healthy controls in the primary motor cortex (precentral gyrus), nonprimary motor areas (superior and middle frontal gyri and superior parietal lobe), and some extramotor areas (frontal pole, planum temporale, and planum polare). No correlation was found between regional MTR values and the severity of clinical deficits or disease duration. CONCLUSIONS: MTI analysis can detect the distributed pattern of microstructural changes of the GM in the cerebral cortex of patients with ALS with involvement of both the motor and extramotor areas

L1 track finding for a time multiplexed trigger

At the HL-LHC, proton bunches will cross each other every 25. ns, producing an average of 140 pp-collisions per bunch crossing. To operate in such an environment, the CMS experiment will need a L1 hardware trigger able to identify interesting events within a latency of 12.5. μs. The future L1 trigger will make use also of data coming from the silicon tracker to control the trigger rate. The architecture that will be used in future to process tracker data is still under discussion. One interesting proposal makes use of the Time Multiplexed Trigger concept, already implemented in the CMS calorimeter trigger for the Phase I trigger upgrade. The proposed track finding algorithm is based on the Hough Transform method. The algorithm has been tested using simulated pp-collision data. Results show a very good tracking efficiency. The algorithm will be demonstrated in hardware in the coming months using the MP7, which is a μTCA board with a powerful FPGA capable of handling data rates approaching 1. Tb/s.This project has received funding from the European Union׳s Seventh Framework Programme for research, technological development and demonstration under grant agreement no. 317446

The DREAM model's effectiveness in health promotion of AIDS patients in Africa

This study evaluates the effectiveness of a holistic model for treating people living with AIDS in Africa; the model aims to improve knowledge about AIDS prevention and care, increase trust in the health centre, impact behaviour, and promote a high level of adherence to HAART. The study took place in the context of the DREAM (Drug Resource Enhancement against AIDS and Malnutrition) programme in Mozambique, designed by the Community of Sant'Egidio to treat HIV patients in Africa. It provides patients with free anti-retroviral drugs, laboratory tests (including viral load), home care and nutritional support. This is a prospective study involving 531 patients over a 12-month period. The patients, predominantly poor and with a low level of education, demonstrated a good level of knowledge about AIDS (more than 90% know how it is transmitted) and trust in the treatment, with a relatively small percentage turning to traditional healers. Overall the patients had a low level of engaging in risky sexual behaviour and a very good level of adherence to HAART (69.5% of the 531 subjects had a pill count higher than 95%). The positive results of the programme's educational initiatives were confirmed with the patients' good clinical results

Caracterización biométrica de Bothriochloa laguroides ssp laguroides (dc.) Herter para un manejo pastoril sustentable

Grasses morphological knowledge, in space and time, is important in agronomic management actions. Bothriochloa laguroides is a key species in the grasslands of the hills region by higher prevalence of high forage value. The objective was to establish management guidelines to define more precisely the grazing intensity for that species. In a area of 95 ha, grazed breeding farm, were placed randomly distributed 4 closures. In every closing we selected 5 individuals of that species and every 7 days was measured total plant height (AT) and the height of the peduncle of the inflorescence visible (APVI) in both vegetative and reproductive stage. According to the results obtained showed that the growing period was maintained until mid-January. The start, peak and end of flowering occurred in midJanuary, late February - early March and late April respectively. On the other hand, there was a significant positive correlation (R = 0.8, α = 0.05) between AT and APVI. As a result, it could be recommend that grazing in the vegetative stage is of low intensity to favor the formation of bunches. From mid-January, when starts the reproductive stage, grazing may be of greater intensity until early March which should remove the animals. This manage ment would have a large supply of biomass to ensure the perpetuity of the species in time.El conocimiento morfológico de las gramíneas en el espacio y en el tiempo tiene importancia en las acciones de manejo agronómico. Bothriochloa laguroides es una especie clave en los pastizales de la región serrana del sur de la provincia de Córdoba por su predominio y alto valor forrajero. El objetivo del trabajo fue establecer pautas de manejo que definan con mayor precisión la intensidad de pastoreo para dicha especie. En un lote de 95 ha, pastoreado con hacienda de cría, se colocaron 4 clausuras distribuidas al azar. En cada clausura se seleccionaron 5 individuos de dicha especie y cada 7 días se tomaron diversas características morfométricas tanto en la etapa vegetativa como reproductiva. De acuerdo con los resultados obtenidos se observó que el período vegetativo se mantuvo hasta mediados de enero. El inicio, máximo y final de la floración se produjo a mediados de enero, fines de febrero - principios de marzo y fines de abril respectivamente. Por otro lado, se observó una correlación positiva significativa (R=0,8, α=0,05) entre AT y APVI. Debido a ello, podría recomendarse que el pastoreo en la etapa vegetativa sea de baja intensidad para favorecer la formación de macollos. A partir de mediados de enero, cuando da comienzo la etapa reproductiva, el pastoreo podría ser de mayor intensidad hasta principio de marzo donde se deberían retirar los animales. Este manejo permitiría tener una alta oferta de biomasa asegurando la perpetuidad de la especie en el tiempo

Deficiency in Protein Tyrosine Phosphatase PTP1B shortens lifespan and leads to development of acute leukemia

This work was performed with the funds from the Wellcome Trust ISSF grant to M. Delibegovic and BHF project grant to M. Delibegovic (PG/11/8/28703). S. Le Sommer is a recipient of the University of Aberdeen Institute of Medical Sciences PhD studentship. Conflict of interest: Authors declare there are no conflicts of interests.Peer reviewedPostprin

Recent Results on the Performance of the CMS Tracker Readout System

The CMS Silicon Tracker comprises a complicated set of hardware and software components that have been thoroughly tested at CERN before final integration of the Tracker. A vertical slice of the full readout chain has been operated under near-final conditions. In the absence of the tracker front-end modules, simulated events have been created within the FED (Front End Driver) and used to test the readout reliability and efficiency of the final DAQ (Data Acquisition). The data are sent over the S-Link 64 bit links to the FRL(Fast Readout Link) modules at rates in excess of 200 MBytes/s per FED depending on setup and conditions. The current tracker DAQ is fully based on the CMS communication and acquisition tool XDAQ. This paper discusses setup and results of a vertical slice of the full Tracker final readout system comprising 2 full crates of FEDs, 30 in total, read out through 1 full crate of final FRL modules. This test is to complement previous tests done at Imperial College[3] taking them to the next level in order to prove that a complete crate of FRLs using the final DAQ system, including all subcomponents of the final system both software and hardware with the exception of the detector modules themselves, is capable of sustained readout at the desired rates and occupancy of the CMS Tracker. Simulated data are created with varying hit occupancy (1-10%) and Poisson distributed trigger rates (<200KHz) and the resulting behaviour of the system is recorded. Data illustrating the performance of the system and data readout are presented

Impaired photosystem I oxidation induces STN7-dependent phosphorylation of the light-harvesting complex I protein Lhca4 in Arabidopsis thaliana

Reduction of the plastoquinone (PQ) pool is known to activate phosphorylation of thylakoid proteins. In the Arabidopsis thaliana mutants psad1-1 and psae1-3, oxidation of photosystem I (PSI) is impaired, and the PQ pool is correspondingly over-reduced. We show here that, under these conditions, the antenna protein Lhca4 of PSI becomes a target for phosphorylation. Phosphorylation of the mature Lhca4 protein at Thr16 is suppressed in stn7 psad1 and stn7 psae1 double mutants. Thus, under extreme redox conditions, hyperactivation of thylakoid protein kinases and/or reorganization of thylakoid protein complex distribution increase the susceptibility of PSI to phosphorylation