Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy and diffuse leukoencephalopathy, which usually lead to death in early adulthood. Therapeutic options are currently available in clinical practice (allogeneic hematopoietic stem cell transplantation and carrier erythrocyte entrapped TP therapy) and newer, promising therapies are expected in the near future. However, successful treatment is strictly related to early diagnosis. We report on an incomplete MNGIE phenotype in a young man harboring the novel heterozygote c.199 C>T (Q67X) mutation in exon 2, and the previously reported c.866 A>C (E289A) mutation in exon 7 in TYMP. The correct diagnosis was achieved many years after the onset of symptoms and unfortunately, the patient died soon after diagnosis because of multiorgan failure due to severe malnutrition and cachexia before any therapeutic option could be tried. To date, early diagnosis is essential to ensure that patients have the opportunity to be treated. MNGIE should be suspected in all patients who present with both gastrointestinal and nervous system involvement, even if the classical complete phenotype is lacking

Sustaining Economic Exploitation of Complex Ecosystems in Computational Models of Coupled Human-Natural Networks

Understanding ecological complexity has stymied scientists for decades. Recent elucidation of the famously coined "devious strategies for stability in enduring natural systems" has opened up a new field of computational analyses of complex ecological networks where the nonlinear dynamics of many interacting species can be more realistically mod-eled and understood. Here, we describe the first extension of this field to include coupled human-natural systems. This extension elucidates new strategies for sustaining extraction of biomass (e.g., fish, forests, fiber) from ecosystems that account for ecological complexity and can pursue multiple goals such as maximizing economic profit, employment and carbon sequestration by ecosystems. Our more realistic modeling of ecosystems helps explain why simpler "maxi-mum sustainable yield" bioeconomic models underpinning much natural resource extraction policy leads to less profit, biomass, and biodiversity than predicted by those simple models. Current research directions of this integrated natu-ral and social science include applying artificial intelligence, cloud computing, and multiplayer online games

Reinforced feedback in virtual environment for rehabilitation of upper extremity dysfunction after stroke: preliminary data from a randomized controlled trial.

OBJECTIVES: To study whether the reinforced feedback in virtual environment (RFVE) is more effective than traditional rehabilitation (TR) for the treatment of upper limb motor function after stroke, regardless of stroke etiology (i.e., ischemic, hemorrhagic). DESIGN: Randomized controlled trial. Participants. Forty-four patients affected by stroke. Intervention. The patients were randomized into two groups: RFVE (N = 23) and TR (N = 21), and stratified according to stroke etiology. The RFVE treatment consisted of multidirectional exercises providing augmented feedback provided by virtual reality, while in the TR treatment the same exercises were provided without augmented feedbacks. Outcome Measures. Fugl-Meyer upper extremity scale (F-M UE), Functional Independence Measure scale (FIM), and kinematics parameters (speed, time, and peak). RESULTS: The F-M UE (P = 0.030), FIM (P = 0.021), time (P = 0.008), and peak (P = 0.018), were significantly higher in the RFVE group after treatment, but not speed (P = 0.140). The patients affected by hemorrhagic stroke significantly improved FIM (P = 0.031), time (P = 0.011), and peak (P = 0.020) after treatment, whereas the patients affected by ischemic stroke improved significantly only speed (P = 0.005) when treated by RFVE. CONCLUSION: These results indicated that some poststroke patients may benefit from RFVE program for the recovery of upper limb motor function. This trial is registered with NCT01955291

On Lorentz Invariant Actions for Chiral P-Forms

We demonstrate how a Lorentz covariant formulation of the chiral p-form model in D=2(p+1) containing infinitely many auxiliary fields is related to a Lorentz covariant formulation with only one auxiliary scalar field entering a chiral p-form action in a nonpolynomial way. The latter can be regarded as a consistent Lorentz-covariant truncation of the former. We make the Hamiltonian analysis of the model based on the nonpolynomial action and show that the Dirac constraints have a simple form and are all of the first class. In contrast to the Siegel model the constraints are not the square of second-class constraints. The canonical Hamiltonian is quadratic and determines energy of a single chiral p-form. In the case of d=2 chiral scalars the constraint can be improved by use of `twisting' procedure (without the loss of the property to be of the first class) in such a way that the central charge of the quantum constraint algebra is zero. This points to possible absence of anomaly in an appropriate quantum version of the model.Comment: RevTeX file, 7 page

Paleoseismological data from a new trench across the El Camp Fault(Catalan Coastal Ranges, NE Iberian Peninsula)

The El Camp Fault (Catalan Coastal Ranges, NE Iberian Peninsula) is a slow slipping normal fault whose seismic potential has only recently been recognised. New geomorphic and trench investigations were carried out during a training course across the El Camp Fault at the La Porquerola alluvial fan site. A new trench (trench 8) was dug close to a trench made previously at this site (trench 4). With the aid of two long topographic profiles across the fault scarp we obtained a vertical slip rate ranging between 0.05 and 0.08 mm/yr. At the trench site, two main faults, which can be correlated between trenches 8 and 4, make up the fault zone. Using trench analysis three paleoseismic events were identified, two between 34.000 and 125.000 years BP (events 3 and 2) and another event younger than 13 500 years BP (event 1), which can be correlated, respectively, with events X (50.000- 125.000 years BP), Y (35.000-50.000 years BP) and Z (3000-25.000 years BP). The last seismic event at the La Porquerola alluvial fan site is described for the first time, but with some uncertainties

Superbrane Actions and Geometrical Approach

We review a generic structure of conventional (Nambu-Goto and Dirac-Born-Infeld-like) worldvolume actions for the superbranes and show how it is connected through a generalized action construction with a doubly supersymmetric geometrical approach to the description of super-p-brane dynamics as embedding world supersurfaces into target superspaces.Comment: Based on talks given by the authors at the Volkov Memorial Seminar "Supersymmetry and Quantum field Theory" (Kharkov, January 5-7, 1997), LaTeX file, 11 pages Misprints corrected, references adde

Covariant Action for the Super-Five-Brane of M-Theory

We propose a complete, d=6 covariant and kappa-symmetric, action for an M-theory five-brane propagating in D=11 supergravity background.Comment: LaTeX file, 5 pages, misprints corrected, comments and references adde

Simplifying Algebra in Feynman Graphs, Part III: Massive Vectors

A T-dualized selfdual inspired formulation of massive vector fields coupled to arbitrary matter is generated; subsequently its perturbative series modeling a spontaneously broken gauge theory is analyzed. The new Feynman rules and external line factors are chirally minimized in the sense that only one type of spin index occurs in the rules. Several processes are examined in detail and the cross-sections formulated in this approach. A double line formulation of the Lorentz algebra for Feynman diagrams is produced in this formalism, similar to color ordering, which follows from a spin ordering of the Feynman rules. The new double line formalism leads to further minimization of gauge invariant scattering in perturbation theory. The dualized electroweak model is also generated.Comment: 39 pages, LaTeX, 8 figure

Batalin-Vilkovisky formalism in perturbative algebraic quantum field theory

On the basis of a thorough discussion of the Batalin-Vilkovisky formalism for classical field theory presented in our previous publication, we construct in this paper the Batalin-Vilkovisky complex in perturbatively renormalized quantum field theory. The crucial technical ingredient is a proof that the renormalized time-ordered product is equivalent to the pointwise product of classical field theory. The renormalized Batalin-Vilkovisky algebra is then the classical algebra but written in terms of the time-ordered product, together with an operator which replaces the ill defined graded Laplacian of the unrenormalized theory. We identify it with the anomaly term of the anomalous Master Ward Identity of Brennecke and D\"utsch. Contrary to other approaches we do not refer to the path integral formalism and do not need to use regularizations in intermediate steps.Comment: 34 page