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Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. For the whole cohort, the average duration of home therapy was 1 year and 11 months (range 3 months–4 years and 6 months), and during this period, compliance to treatment (number of infusions performed vs scheduled) reached 100%. The EQ-5 VAS scale was administered to patients to evaluate the self-reported QoL, 58% of patients showing an increase of EQ-5 VAS score at follow up compared to baseline (home treatment start) or remaining stable. A mild increase of average disease severity, measured through Mainz Severity Score Index (MSSI), was found during hospital treatment (p

We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10 years. We have found a wide range of intrafamilial phenotypic variability in these families, both in terms of target-organs and severity of the disease. Overall, our findings confirm previous data from the literature showing a high degree of intrafamilial phenotypic variability in patients carrying the same mutation. Furthermore, our results underscore the difficulty in giving accurate prognostic information to patients during genetic counselling, both in terms of rate of disease progression and involvement of different organs, when such prognosis is solely based on the patient's family history.

A microwave adapter was fitted to a wax filled reducing wedge in order to transmit 8-12 GHz microwaves through a sub-wavelength rectangular opening. The configuration produced a 70 dB dynamic range and was found suitable for high resolution inspection of 1 to 10,000 ohm per square conducting films. Network analyzer measurements on 12 conducting films that were reported to be 5 to 1500 ohms per square are compared to the reported values and reconciled with electromagnetic theory.

The interaction of an optical beam with a traveling surface wave and a stationary holographic reference grating is studied theoretically and experimentally. The spatial phase modulation produced by the traveling wave results in an intensity modulation in the diffracted orders of the optical beam. The intensity modulation is at the fundamental frequency of the traveling wave, and its amplitude depends periodically on the separation distance between the plane of the traveling wave and the plane of the stationary holographic reference grating. Experiments were carried out with 87-MHz surface acoustic waves traveling on a LiNbO3 substrate separated from a holographic reference grating in film. The amplitudes of the detected modulation in the m = 0 and m = ±1 diffraction orders of a probing beam are in close agreement with a plane-wave analysis in the Raman–Nath diffraction regime.

To investigate the presence of a possible synergistic effect of IAA and anaerobiosis on rice coleoptile elongation, excised coleoptiles grown in aerobic and anaerobic conditions were tested and compared with intact seedling aerial parts for response to exogenous IAA and for levels of endogenous IAA. Excised coleoptiles were fed with3H-IAA to study aerobic and anaerobic IAA metabolism. Our results can be summarized as follows. (1) IAA and anaerobiosis have no synergistic effect on rice coleoptile elongation. (2) This behavior is due not to an inhibition of IAA uptake but probably to a reduced and different IAA metabolism in coleoptile grown in the absence of oxygen. (3) In anaerobic rice coleoptiles, the conversion to inactive conjugate (IAA-Asp) could be adopted as means of detoxification in the case of abnormally high and unutilized IAA levels. (4) The increase in IAA level found in coleoptiles of intact seedlings during anaerobic treatment could be due, as in the roots, to a translocation from the endosperm, in which the hormone is contained in a great quantity.

The level of auxin - both natural and synthetic - in the medium has a strong effect on the level of 5-methyl-cytosine in the DNA of carrot cells in culture. This level may vary from approximately 15% to 70% of total cytosine without apparent effects on growth rate and cell morphology. No effect was seen with cytokinin. During somatic embryogenesis, in the absence of hormones, variations were seen in the level of methylation according to a characteristic pattern. If hypomethylation is induced with drugs such as azacytidine, ethionine or ethoxy-carbonyl-pyrimidine, embryogenesis is immediately blocked. A mutant was isolated which is resistant to the action of hypomethylating drugs. It shows variations in the methylation pattern and variations in indole-acetic acid metabolism. In addition its regeneration is often associated with the production of tumors.

The maize mutant defective endosperm-B18 (de (*)-B18), which is recessive to its wildtype, accumulates substantially less dry matter in the endosperm than its normal counterpart. Both free and bound indole-acetic acid (IAA) content has been measured at 5 different developmental stages. In endosperm tissue, the level of IAA is at least 15 times lower in the mutantde (*) -B18 than in the wildtype. The situation found in the diploid tissues is somewhat different: in the mature embryo the level of total IAA is lower in the mutant than in the wildtype, while in 4-day old seedlings the level of total IAA is, to some degree, similar in both genotypes. Naphthalene-acetic acid (NAA), a stable synthetic auxin which mimics IAA in its biochemical effects, is able to normalize the seed weight of the mutant when applied to developing grains. The results favor the conclusion that in maize endosperm the mutationde (*) -B18 is involved in IAA metabolism.

6,7-Dehydroestradiol 3-acetate, obtained by borohydride reduction of 6,7-dehydroestrone 3-acetate, was condensed with methyl-2,3,4-tri-O-acetyl-1-bromo-1-deoxy-α — D-glucuronate. After alkaline hydrolysis of the product, the double bond of the steroid was hydrogenated with 3H2, and sodium (3-hydroxy-[6,7- 3H] estra-1,3,5(10)-trien-17β-yl-β — D-glucopyranosid)-uronate was obtained.

Experiments using holographically recorded phase gratings in a proximity probing method for the optical detection of surface acoustic waves (SAW) have been performed. The interaction of a probing beam with a traveling SAW and a stationary reference grating (SRG) has been analyzed and experimentally verified previously.1,2 The detected intensity in the primary orders of diffraction is modulated at the fundamental SAW frequency. For the proximity case where the SRG is separated from the SAW by a distance L, the sensitivity of detection is dependent on the separation between the SRG and SAW as well as the characteristics of the probing beam. We outline the analysis of the probing technique and present our most recent experimental results using holographic reference gratings (HRG). The SAW were produced by an interdigital transducer on a LiNbCh substrate using fifth harmonic generation. The SAW frequency was ~87 MHz corresponding to a wavelength of 40 µm. The HRG were recorded in high resolution film emulsions on glass plates. The sinusoidal periodicities of ~41 µm were measured using a Tencor Alpha-step surface profilometer. The detected intensity modulation dependence on proximity, SAW detection sensitivities, and probing laser beam effects are reported.

Renal biopsies from 32 patients, whose light microscopy showed a pattern of minimal changes nephropathy, have been submitted to immunohistological examination. On the basis of immunofluorescence pattern we separated the cases into three groups: the first group (12 cases) was characterized by absence of any glomerular deposit. The second group (9 cases) showed focal and segmental deposits of IgM and sometimes C3 on capillary walls. In the third group (11 cases) we observed slight deposits of IgM and sometimes C3 "comma like" over glomerular structures in all glomeruli. The site of these last deposits was sometimes mesangium and sometimes the capillary walls. The results of immunohistological examinations gave no information about the pathogenetic mechanisms of minimal changes nephropathy. We observed that the patients enclosed in the second group had a worse clinical prognosis, compared with the other two groups.

Gibberellin A3 (GA3) promoted anther development and increased the amount of viable pollen in the short anther parthenocarpic mutant (sha-pat) of tomato (Lycopersicon esculentum Mill.) without inducing seeded fruits.