Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP. TP deficiency leads to plasma and tissue accumulations of thymidine and deoxyuridine which generate imbalances within the mitochondrial nucleotide pools, ultimately leading to mitochondrial dysfunction.1 MNGIE is characterized clinically by leukoencephalopathy, external ophthalmoplegia, peripheral polyneuropathy, cachexia, and enteric neuromyopathy manifesting as gastrointestinal dysmotility. The condition is relentlessly progressive, with patients usually dying from a combination of nutritional and neuromuscular failure at an average age of 37 years.2 Allogeneic hematopoietic stem cell transplantation (AHSCT) offers a permanent cure. Clinical and biochemical improvements following AHSCT have been reported but it carries a high mortality risk and is limited by matched donor availability.3 A consensus proposal for standardizing AHSCT recommends treatment of patients without irreversible end-stage disease and with an optimally matched donor; a majority of patients are ineligible and thus there is a critical requirement for an alternative treatment

Flow of nitrogen-pressurized Halon 1301 in fire extinguishing systems

Halon 1301 which is a halocarbon fire extinguishing agent (CBrF3) used by the U.S. Army for vehicle fire suppression is discussed. Halon 1301 is discharged under nitrogen pressure, and the Halon-nitrogen mixture is a two phase, two component mixture that obeys compressible fluid laws and exhibits choking effects. A computer model was developed to analyze the discharge of Halon and nitrogen from a storage bottle through pipes and nozzles. The model agrees well with data from Halon 1301 discharge tests. The discharge time depends mainly on nozzle area and pipe volume, for given initial conditions. Graphs were developed for estimating discharge times. A nozzle employing multiple concentric converging/diverging nozzles was developed which gave hemispherical coverage

A candidate optical counterpart to the middle-aged gamma-ray pulsar PSR J1741-2054

We carried out deep optical observations of the middle-aged $\gamma$-ray pulsar PSR J1741-2054 with the Very Large Telescope (VLT). We identified two objects, of magnitudes $m_v=23.10\pm0.05$ and $m_v=25.32\pm0.08$, at positions consistent with the very accurate Chandra coordinates of the pulsar, the faintest of which is more likely to be its counterpart. From the VLT images we also detected the known bow-shock nebula around PSR J1741-2054. The nebula is displaced by \sim 0\farcs9 (at the $3\sigma$ confidence level) with respect to its position measured in archival data, showing that the shock propagates in the interstellar medium consistently with the pulsar proper motion. Finally, we could not find evidence of large-scale extended optical emission associated with the pulsar wind nebula detected by Chandra, down to a surface brightness limit of $\sim 28.1$ magnitudes arcsec$^{-2}$. Future observations are needed to confirm the optical identification of PSR J1741-2054 and characterise the spectrum of its counterpart.Comment: 8 pages, 3 figures, Astrophysical Journal, in pres