Congenital dyserythropoietic anemia type I (CDAI) is an autosomal recessive inherited haematological disorder associated with moderate-to-severe anemia characterized by ineffective erythropoiesis ...with distinct morphological abnormalities in erythroid precursors. We present two case of congenital dyserythropoietic anemia type I in two Sicilian patients heterozygous for β
0
39 globin gene cod 39 C > T with marked bone marrow abnormalities, responding to treatment with alpha interferon. The diagnosis was established using routine haematological and biochemical test, light and electron microscopy; molecular analysis of the CDAN1 gene associated to the CDAI disease was performed. The response to the treatment was monitored using the hemoglobin levels, the red cell count, the reticulocyte count and the transfusional requirement. This report points out the usefulness of the treatment with interferon alpha in two Sicilian beta thalassemia carriers, in which the therapy was well tolerated without producing any side effects; in these patients the transfusion requirements after the initiation of interferon therapy decreased.
Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ...ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for
β
+
-globin
IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1. Sequence analysis of CDA-related genes revealed compound heterozygosity for two novel mutations in the CDAN1 gene: a frameshift mutation 3367 del 4 (TTAG) in exon 25 and a missense mutation c.1811 G>T in exon 11 causing an aminoacid change from glycine to valine at codon 565 (G565V). One of the propositus’ brothers showed the same gene mutations. As the CDA1 can mimic thalassemia, a frequent misdiagnosis is possible especially in countries where the prevalence of thalassemia is high. A strong clinical suspicion in patients who do not reveal a clear genetic basis for presumed thalassemia may help clinch the correct diagnosis.
The influence of the morphology and structure of antimony substrates on the diffusion and reaction process of an electrodeposited indium overlayer was investigated. The formation of the InSb ...intermetallic compound was studied by SEM-EDS and X-ray diffraction, at temperatures of 40, 70, 110 and 140°C. The antimony substrates, either crystalline or amorphous, were prepared by electrodeposition, the former being obtained in two different conditions, i.e. from a bath either not containing or containing the surface-active agent, Trylon B. The lowest indium diffusion coefficient was observed for the crystalline substrate prepared in the presence of the organic compound and the highest for the amorphous substrate, in spite of the higher surface roughness of the crystalline material. The values ranged from 0.35×10
−19 to 17.1×10
−19 m
2 s
−1, at 70°C. This behaviour was ascribed to the lower activation energy for In diffusion in the amorphous phase (53 instead of 65 kJ mol
−1) which has a more open structure and lower density than the crystalline structure, due to the larger interatomic distances.
Indium galvanostatic electrodeposition from aqueous solutions on antimony electrodes has been investigated together with time evolution of the deposit composition. The morphology, composition and ...structure of the deposit surface and cross-section have been analysed by SEM-EDS and X-ray diffraction both before and after annealing at 70, 110 and 135°C for increasing times. The results showed the formation of InSb, owing to indium diffusion into the bulk of the cathode and to the reaction with antimony. The indium diffusion coefficient in InSb between 25 and 135°C (from 0.1×10−19 to 2.6×10−19m2s−1) has been estimated from X-ray data and the values of the activation energy (30 kJ mol−1) and preexponential factor (1.8×10−15 m2 s−1) have been determined.
The influence of temperature on indium galvanostatic electrodeposition from aqueous solutions on bismuth cathodes has been investigated, as well as the time evolution of the deposit composition. The ...formation of In-Bi intermetallic compounds was observed owing to indium diffusion into, and reaction inside, the bulk of the cathode. By considering the charge transfer and mass transport phenomena, we estimated the In diffusion coefficient into InBi at 30 to 70°C (from 0.79 × 10−15 to 3.77 × 10−15 m2 s−1) and from applying an Arrhenius-type relation, we estimated the activation energy (32.8 kJ mol−1) and frequency factor (3.7 × 10−10 m2 s−1).
The Authors intent was to study the convenience of exposing selective media for identification of finely atomized pathogenic bacteria such as Staphylococcus aureus, in the proximity of oxidation ...basins of the mechanical surface aeration-type purification plants, and also to assess the percentage of pathogenic elements spread throughout the air. The Authors consider the use of elective or selective media for the isolation of bacteria in the air hardly important and useful. But since the dishes exposed in the vicinity of the liquid sewage oxidation basin have revealed the presence of polluting aerosols, it would seem convenient to provide for an in-depth study on the mechanism governing the spreading of aerosol particles throughout the air, in relation to the estimate of the meteorological and climatic parameters of the area and to a survey of the persons therein exposed.
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