Megaloblastic anaemia, diabetes and deafness in a two-year old child

Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers’ syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child

Megaloblastic anaemia, diabetes and deafness in a 2-year old child

Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers’ syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child

Late-onset nonketotic hyperglycinemia and spinocerebellar degeneration

Investigation of a 15-year old boy with progressive optic atrophy and spinocerebellar degeneration revealed elevated plasma, cerebrospinal fluid, and urine glycine concentrations. During an oral glycine loading test, the patient's plasma glycine concentration rose to a higher level than control values, although the initial rate of rise was slower; there was no concomitant rise in the plasma serine concentration. An oral serine loading test resulted in a prompt rise of both glycine and serine serum concentrations. The renal glycine clearance was elevated, and the renal tubular glycine reabsorption was diminished. These findings of decreased intestinal uptake and increased renal tubular glycine clearance suggest that a generalized derangement of glycine entry into cells may account for the phenotypic manifestations of the disorder

RCSB PDB Mobile: iOS and Android mobile apps to provide data access and visualization to the RCSB Protein Data Bank.

SummaryThe Research Collaboratory for Structural Bioinformatics Protein Data Bank (RCSB PDB) resource provides tools for query, analysis and visualization of the 3D structures in the PDB archive. As the mobile Web is starting to surpass desktop and laptop usage, scientists and educators are beginning to integrate mobile devices into their research and teaching. In response, we have developed the RCSB PDB Mobile app for the iOS and Android mobile platforms to enable fast and convenient access to RCSB PDB data and services. Using the app, users from the general public to expert researchers can quickly search and visualize biomolecules, and add personal annotations via the RCSB PDB's integrated MyPDB service.Availability and implementationRCSB PDB Mobile is freely available from the Apple App Store and Google Play (http://www.rcsb.org)

E11, generalised space-time and equations of motion in four dimensions

We construct the non-linear realisation of the semi-direct product of E11 and its first fundamental representation at low levels in four dimensions. We include the fields for gravity, the scalars and the gauge fields as well as the duals of these fields. The generalised space-time, upon which the fields depend, consists of the usual coordinates of four dimensional space-time and Lorentz scalar coordinates which belong to the 56-dimensional representation of E7. We demand that the equations of motion are first order in derivatives of the generalised space-time and then show that they are essentially uniquely determined by the properties of the E11 Kac-Moody algebra and its first fundamental representation. The two lowest equations correctly describe the equations of motion of the scalars and the gauge fields once one takes the fields to depend only on the usual four dimensional space-time

The RCSB Protein Data Bank: views of structural biology for basic and applied research and education.

The RCSB Protein Data Bank (RCSB PDB, http://www.rcsb.org) provides access to 3D structures of biological macromolecules and is one of the leading resources in biology and biomedicine worldwide. Our efforts over the past 2 years focused on enabling a deeper understanding of structural biology and providing new structural views of biology that support both basic and applied research and education. Herein, we describe recently introduced data annotations including integration with external biological resources, such as gene and drug databases, new visualization tools and improved support for the mobile web. We also describe access to data files, web services and open access software components to enable software developers to more effectively mine the PDB archive and related annotations. Our efforts are aimed at expanding the role of 3D structure in understanding biology and medicine

Muonium Decay

Modifications of the mu+ lifetime in matter due to muonium (M = mu+ e-) formation and other medium effects are examined. Muonium and free mu+ decay spectra are found to differ at O(alpha m_e/m_mu) from Doppler broadening and O(alpha^2 m_e/m_mu) from the Coulomb bound state potential. However, both types of corrections are shown to cancel in the total decay rate due to Lorentz and gauge invariance respectively, leaving a very small time dilation lifetime difference, (tau_M - tau_mu+)/tau_mu+ = alpha^2 m_e^2/ 2m_mu^2 \simeq 6\times 10^-10, as the dominant bound state effect. It is argued that other medium effects on the stopped mu+ lifetime are similarly suppressed.Comment: 14 pages, revte

Duality Invariant Actions and Generalised Geometry

We construct the non-linear realisation of the semi-direct product of E(11) and its first fundamental representation at lowest order and appropriate to spacetime dimensions four to seven. This leads to a non-linear realisation of the duality groups and introduces fields that depend on a generalised space which possess a generalised vielbein. We focus on the part of the generalised space on which the duality groups alone act and construct an invariant action.Comment: 59 pages (typos fixed and added comments

Surface Layering in Liquid Gallium: An X-Ray Reflectivity Study

Surface-induced atomic layering in liquid gallium has been observed using x-ray reflectivity, ultrahigh vacuum conditions, and sputtered clean surfaces. Reflectivity data, collected on a supercooled liquid sample to momentum transfers as large as $q_z$ = 3.0 Å$^{-1}$, exhibit a strong maximum near 2.4 Å$^{-1}$ indicating a layer spacing that is comparable to its atomic dimensions. The amplitude of the electron density oscillations decays with a characteristic length of 6 Å. This is unexpectedly twice that of recent results for Hg, and the difference may be related to covalent bonding or supercooling.Engineering and Applied Science