Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking.

Background: Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and the progression of the disease. Aim and Methods: To perform a cross sectional comparison of ECG abnormalities throughout different left ventricular hypertrophy (LVH) severity subgroups, providing ECG patterns specific of the progressive AFD stages. 189 AFD patients from a multicenter cohort underwent comprehensive ECG analysis, echocardiography, and clinical evaluation. Results: The study cohort (39% males, median age 47 years, 68% classical AFD) was divided into 4 groups according to different degree of left ventricular (LV) thickness: group A ≤ 9 mm (n = 52, 28%); group B 10-14 mm (n = 76, 40%); group C 15-19 mm (n = 46, 24%); group D ≥ 20 mm (n = 15, 8%). The most frequent conduction delay was right bundle branch block (RBBB), incomplete in groups B and C (20%,22%) and complete RBBB in group D (54%, p < 0.001); none of the patients had left bundle branch block (LBBB). Left anterior fascicular block, LVH criteria, negative T waves, ST depression were more common in the advanced stages of the disease (p < 0.001). Summarizing our results, we suggested ECG patterns representative of the different AFD stages as assessed by the increases in LV thickness over time (Central Figure). Patients from group A showed mostly a normal ECG (77%) or minor anomalies like LVH criteria (8%) and delta wave/slurred QR onset + borderline PR (8%). Differently, patients from groups B and C exhibited more heterogeneous ECG patterns: LVH (17%; 7% respectively); LVH + LV strain (9%; 17%); incomplete RBBB + repolarization abnormalities (8%; 9%), more frequently associated with LVH criteria in group C than B (8%; 15%). Finally, patients from group D showed very peculiar ECG patterns, represented by complete RBBB + LVH and repolarization abnormalities (40%), sometimes associated with QRS fragmentation (13%). Conclusions: ECG is a sensitive tool for early identification and long-term monitoring of cardiac involvement in patients with AFD, providing "instantaneous pictures" along the natural history of AFD. Whether ECG changes may be associated with clinical events remains to be determined.

Characterisation of submarine groundwater discharge offshore south-eastern Sicily.

A complex approach in characterisation of submarine groundwater discharge (SGD) off south-eastern Sicily comprising applications of radioactive and non-radioactive tracers, direct seepage measurements, geophysical surveys and a numerical modelling is presented. SGD fluxes in the Donnalucata boat basin were estimated by direct seepage measurements to be from 4 to 12Ls(-1), which are comparable with the total SGD flux in the basin of 17Ls(-1) obtained from radon measurements. The integrated SGD flux over the Donnalucata coast estimated on the basis of Ra isotopes was around 60m(3)s(-1) per km of the coast. Spatial variations of SGD were observed in the Donnalucata boat basin, the average (222)Rn activity concentration in seawater varied from approximately 0.1kBqm(-3) to 3.7kBqm(-3) showing an inverse relationship with salinity. The continuous monitoring carried out at the site closest to the coast has revealed an inverse relationship of (222)Rn activity concentration on the tide. The (222)Rn concentrations in seawater varied from 2.3kBqm(-3) during high tides to 4.8kBqm(-3) during low tides, thus confirming an influence of the tide on submarine groundwater discharge. Stable isotopes (delta(2)H and delta(18)O) showed that SGD samples consist up to 50% of groundwater. Geo-electrical measurements showed a spatial variability of the salt/fresh water interface and its complex transformation in the coastal zone. The presented results imply that in the studied Donnalucata site there are at least two different sources of SGD, one superficial, represented by mixed fresh water and seawater, and the second one which originates in a deeper limestone aquifer.

Dietary evaluation of patients with smell and/or taste disorders.

The impact of smell and taste disorders on dietary habits and nutritional status has received limited research attention. This paper reports findings obtained from questionnaires and diet records completed by 40 healthy subjects and 118 patients with chemosensory dysfunction. Chemosensory disorders were frequently associated with decreases in food acceptability. Although dietary responses to these dysfunctions varied greatly, patients with distorted or phantom smell and/or taste sensations tended to report weight loss whereas those with simple sensory loss were more likely to report weight gain. Indices derived from diet records did not indicate that either group of patients was at substantial nutritional risk, but food frequency responses and estimates of body mass index were consistent with patient reports of changes in dietary patterns and weight. In addition, marked weight change and aberrant dietary practices were noted in individual patients. Thus, there were indications that chemosensory dysfunction may be associated with nutritionally important dietary alterations.