Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy.

Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case. A boy aged 2.3 years was born from first normal pregnancy with a weight of 3420 gr. Family History. Two brothers of the mother died before the age of 3 years with severe infections, diarrhea, erythroderma, and elevated immunoglobulins class E (IgEs). Since first month of life, our patient suffered from septicemia, pneumonias, pyelonephritis, and meningitis, accompanied with eczematous dermatitis and IgEs up to 4000 IU/L (normal <10). At the age of 1.6 years, he developed type 1 diabetes mellitus (T1DM). He was underweighted (-3.42 SDS) and had some phenotypic features like coarse face, muscle hypotonia, joint hyperextensibility, eczematous dermatitis, and subcutaneous cold abscesses. Autoimmune thyroiditis and celiac disease were excluded. After diabetes, intermittent watery diarrhea appeared with progression to severe intractable form. Finally, aggravating symptoms of nephritis, cachexia, and respiratory insufficiency were the cause for his death at the age of 2 years and 3 months. The DNA analysis at the University of Exeter Medical School established mutation at exon 10 of FOXP3 gene c.1010G >A, p. (Arg337Gln), which confirmed IPEX syndrome. The same mutation in heterozygotic state was found in the mother. A prenatal diagnosis of her second pregnancy ensured a daughter carrier of the mutation.

Polarization-preserving wavefront reversal by four-wave mixing in photoanisotropic materials.

A method of polarization (vector) wavefront reversal by four-wave mixing in a photoanisotropic material is described. Jones matrices, describing the dynamic holographic gratings recorded in the material at arbitrary polarization of the signal wave, are derived. They are employed to define the conditions for generating a wave that is fully conjugate (by polarization as well) to the signal wave. The way to achieving these conditions by optically controlling the anisotropy of the nonlinear medium is demonstrated experimentally.

Significance of Cys-153 for the phosphatase activity of glyceraldehyde-3-phosphate dehydrogenase.

After oxidation of the catalytically active sulfhydryl group of Cys-149, glyceraldehyde-3 phosphate dehydrogenase is known to acquire an acylphosphatase activity. Modification of one cysteine residue, obviously Cys-153, with p-mercuribenzoate or N-ethylmaleimide fully inactivates the phosphatase activity of the oxidized enzyme suggesting that this amino acid residue is involved in the reaction. An acyl transfer between Cys-153 and the sulfenic acid derivative of Cys-149 in the mechanism of the phosphatase reaction could explain the data obtained. Compounds which contain heteroatoms at two adjacent carbon atoms such as alpha-amino acids, peptides, EDTA and o-phenanthroline are shown to inhibit the phosphatase reaction of glyceraldehyde-3-phosphate dehydrogenase. These compounds bind in the active centre region close to Cys-153 and may interfere with the acyl transfer reaction thus inhibing the overall phosphatase reaction.

Polarization holography. 1: A new high-efficiency organic material with reversible photoinduced birefringence.

A new organic material for polarization holographic recording--azo-dye methyl-orange, introduced in polyvinyl alcohol (PVA)--is fabricated and investigated. It possesses all the good characteristics of the known polarization-sensitive materials--high sensitivity, reversibility, etc.--but excels them substantially in the magnitude of the photoinduced birefringence: delta n > 10(-3). This makes possible the recording of reversible polarization gratings with diffraction efficiency over 30%. Depending on the conditions of production and subsequent mechanical and thermal treatments the layers of methyl orange/PVA may also have intrinsic birefringence. In this paper the results of experimental investigations into the properties of this new material are reported.

[Purification, molecular weight and subunit structure of NAD(NADP)-dependent glyceraldehyde 3-phosphate dehydrogenase from Chlorella]. / Ochistka, molekuliarnyi ves i sub"edinichnaia struktura NAD(NADP)-zavisimoi glitseral'degid-3-fosfatdegidrogenazy iz khlorelly.

The NAD(NADP) dependent glyceraldehyde 3-phosphate dehydrogenase was isolated from the thermophylic strain of Chlorella pyrenoidosa Pringsheim 82T. The isolation and purification procedures included fractionation of the proteins with (NH4)2SO4, column chromatography on Bio-Gel A-1,5 m and rechromatography on hydroxyapatite. The enzyme was homogeneous during electrophoresis in polyacrylamide gel. The molecular weight of the oligomeric enzyme is 160 000, that of the subunits is 40 000. The amino acid composition and total number of SH-groups were determined.

[NAD(NADP)-dependent glyceraldehyde 3-phosphate dehydrogenase from Chlorella. Kinetics of inhibition by the reaction products NAD and NADP]. / NAD(NADP)-zavisimaia glitseral'degid-3-fosfatdegidrogenaza iz khlorelly. Kinetika ingibirovaniia produktami reaktsii NAD i NADP.

The values of Km and V for NAD(NADP)-dependent glyceraldehyde 3-phosphate dehydrogenase from Chlorella for oxidized and reduced pyridine nucleotides were determined. NAD and NADP competitively inhibit the oxidation of NADH and NADPH, respectively. The NADPH- and NADH-dependent activities were shown to be "cross"-inhibited by NAD and NADP, the inhibition being of a mixed type. It is concluded that the enzyme has independent sites for binding of coenzymes NAD(H) and NADP(H) or at least these coenzymes are linked by different ways at the same site of the enzyme molecule.