Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip dysplasia, and other skeletal malformations; as well as a severe combined immunodeficiency, radiosensitivity, and progressive bone marrow failure; or, they may present later in life with hematological neoplasias that respond catastrophically to chemo- and radiotherapy; or, they could be asymptomatic. We describe the clinical, laboratory, and genetic features of five Mexican patients with LIG4 deficiency, together with a review of 36 other patients available in PubMed Medline. Four out of five of our patients are dead from lymphoma or bone marrow failure, with severe infection and massive bleeding; the fifth patient is asymptomatic despite a persistent CD4+ lymphopenia. Most patients reported in the literature are microcephalic females with growth failure, sinopulmonary infections, hypogammaglobulinemia, very low B-cells, and radiosensitivity; while bone marrow failure and malignancy may develop at a later age. Dysmorphic facial features, congenital hip dysplasia, chronic liver disease, gradual pancytopenia, lymphoma or leukemia, thrombocytopenia, and gastrointestinal bleeding have been reported as well. Most mutations are compound heterozygous, and all of them are hypomorphic, with two common truncating mutations accounting for the majority of patients. Stem-cell transplantation after reduced intensity conditioning regimes may be curative

Thermal, Mechanical and UV-Shielding Properties of Poly(Methyl Methacrylate)/Cerium Dioxide Hybrid Systems Obtained by Melt Compounding

Thick and homogeneous hybrid film systems based on poly(methyl methacrylate) (PMMA) and CeO2 nanoparticles were synthesized using the melt compounding method to improve thermal stability, mechanical and UV-shielding properties, as well as to propose them for use in the multifunctional materials industry. The effect of the inorganic phase on these properties was assessed by using two different weight percentages of synthesized CeO2 nanoparticles (0.5 and 1.0 wt %) with the sol–gel method and thermal treatment at different temperatures (120, 235, 400, 600 and 800 °C). Thereafter, the nanoceria powders were added to the polymer matrix by single screw extrusion. The absorption in the UV region was increased with the crystallite size of the CeO2 nanoparticles and the PMMA/CeO2 weight ratio. Due to the crystallinity of CeO2 nanoparticles, the thermal, mechanical and UV-shielding properties of the PMMA matrix were improved. The presence of CeO2 nanostructures exerts an influence on the mobility of PMMA chain segments, leading to a different glass transition temperature

Fabrication of Sputtered Ce/La, La/Ce Oxide Bilayers on AA6061 and AA7075 Aluminum Alloys for the Development of Corrosion Protective Coatings

This work provides a comparative study on the corrosion protection efficiency of Ce, La films as well as Ce/La and La/Ce oxide bilayered coatings deposited onto AA7075 and AA6061 substrates by the radio frequency (RF) magnetron sputtering technique. The coating thickness ranged approximately from 12 to 835 nm, which changed with the deposition parameters and substrate composition. The relationship between microstructure, roughness and electrochemical performance is examined. The reactivity and crystallinity of rare earth (RE) films can be tailored by adjusting the sputtering parameters. Sputtered La films with thickness ca. 390 nm and average roughness of 66 nm showed the best corrosion protection properties in chloride medium as determined by potentiodynamic curves and electrochemical impedance spectroscopy (EIS). The method to obtain RE bilayered coatings, i.e., La/Ce or Ce/La as well as the substrate composition and applied power conditioned their inhibition properties. The RE bilayered coatings displayed better barrier properties than Ce films, which were poorer than those featured by La films