Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr]

We describe a first Dutch case of Hb M Saskatoon (HBB:c.190C > T p.His64Tyr) in a 47-year-old female Dutch patient who presented with cyanosis, hemolysis, and abnormal co-oximetry. A mean corpuscular volume (MCV) of 105 fL caused by reticulocytosis (160 x 10(9)/L) and low red blood cell count (3.6 x 10(12)/L) suggested an increased erythrocyte turnover. An HPLC glyco-globin analysis revealed a decreased HbA1c fraction of 12.3 mmol/mmol, HbA0 of 93.3% and an additional unidentified fraction at 1.2 min. DNA sequencing revealed a missense mutation in the HBB gene, (HBB:c.190C > T p.His64Tyr), known as Hb M Saskatoon, a variant which has been previously identified as an unstable hemoglobin variant leading to methemoglobinemia and anemia. In this report, we describe the clinical and remarkable laboratory aspects of our patient with Hb M Saskatoon, and the consequences for treatment and drug use.Genetics of disease, diagnosis and treatmen

Absolute properties of the binary system BB Pegasi

We present a ground based photometry of the low-temperature contact binary BB Peg. We collected all times of mid-eclipses available in literature and combined them with those obtained in this study. Analyses of the data indicate a period increase of 3.0(1) x 10^{-8} days/yr. This period increase of BB Peg can be interpreted in terms of the mass transfer 2.4 x 10^{-8} Ms yr^{-1} from the less massive to the more massive component. The physical parameters have been determined as Mc = 1.42 Ms, Mh = 0.53 Ms, Rc = 1.29 Rs, Rh = 0.83 Rs, Lc = 1.86 Ls, and Lh = 0.94 Ls through simultaneous solution of light and of the radial velocity curves. The orbital parameters of the third body, that orbits the contact system in an eccentric orbit, were obtained from the period variation analysis. The system is compared to the similar binaries in the Hertzsprung-Russell and Mass-Radius diagram.Comment: 17 pages, 3 figures, accepted for Astronomical Journa

Schrödinger's capsule : a (micro) capsulate that is open and closed, almost, at the same time

We exploit different routes for encapsulation of food additives, such as minerals or vitamins, in a polymeric capsule. The added active ingredients should remain inside the capsule for at least a year in an aqueous environment (e.g. a dairy product), since sensory properties or functionality of the ingredients may otherwise be affected. However, after intake the active compound should readily (within 1 h) be released due to the acidic environment in the stomach. First, we propose a phenomenological model in order to study how a polymeric matrix may limit the diffusion of incorporated active molecules. The relation between the release rate of the active compound and its molecular weight is elucidated. Second, the desired capsules may be obtained by specific binding between subunits within the capsule and the active ingredient. We show two examples that rely on this mechanism: amylose-lipid complexes and mixed metal hydroxides. Amylose is able to form inclusion complexes with various types of ligands, including iodine, monoglycerides, fatty acids and alcohols, where the hydrophobic parts of the ligands are entrapped in the hydrophobic helical cavity of amylose. Mixed metal hydroxides are a versatile class of inorganic solids that consist of sheets of metal cations that are octahedrally surrounded by hydroxide molecules. In between these layers anionic species compensate for charge neutrality. In this way, various metal cations (minerals) may be incorporated with a high loading, and negatively charged actives may be placed between the layers. Upon digestion the particles dissolve and the ingredients are digested. Finally, we show that nature has already developed many intriguing capsules

Non-contrast cardiac computed tomography can accurately detect chronic myocardial infarction: Validation study

BackgroundThis study evaluates whether non-contrast cardiac computed tomography (CCT) can detect chronic myocardial infarction (MI) in patients with irreversible perfusion defects on nuclear myocardial perfusion imaging (MPI).MethodsOne hundred twenty-two symptomatic patients with irreversible perfusion defect (N = 62) or normal MPI (N = 60) underwent coronary artery calcium (CAC) scanning. MI on these non-contrast CCTs was visually detected based on the hypo-attenuation areas (dark) in the myocardium and corresponding Hounsfield units (HU) were measured.ResultsNon-contrast CCT accurately detected MI in 57 patients with irreversible perfusion defect on MPI, yielding a sensitivity of 92%, specificity of 72%, negative predictive value (NPV) of 90%, and a positive predictive value (PPV) of 77%. On a per myocardial region analysis, non-contrast CT showed a sensitivity of 70%, specificity of 85%, NPV of 91%, and a PPV of 57%. The ROC curve showed that the optimal cutoff value of LV myocardium HU to predict MI on non-contrast CCT was 21.7 with a sensitivity of 97.4% and specificity of 99.7%.ConclusionNon-contrast CCT has an excellent agreement with MPI in detecting chronic MI. This study highlights a novel clinical utility of non-contrast CCT in addition to assessment of overall burden of atherosclerosis measured by CAC