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.

Rate of reinfections after SARS-CoV-2 primary infection in the population of an Italian province: a cohort study.

BACKGROUND: Current data suggest that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reinfections are rare, but no information are available on minors and after 12 months of follow-up. METHODS: This retrospective cohort study included all the population of an Italian Province, diagnosed with a SARS-CoV-2 infection from March 2020 to May 2021. The primary outcome was the incidence of a reinfection, defined as a new positive polymerase chain reaction (PCR) test occurring ≥90 days after complete resolution of the first infection, and data were retrieved from the official datasets (coronavirus disease 2019 [COVID-19], demographic, hospital and co-pay exemption) of the Local Health Unit (LHU) of Pescara. RESULTS: After an average of 201 days of follow-up (max. 414), we recorded 24 reinfections ≥90 days after the resolution of the first 7173 infections (0.33%). Four reinfections required hospitalization, one was lethal. Most of the reinfections (n = 13) occurred 6-9 months after the resolution of the first infection; no new infection was detected 12 or more months later and among the 832 minors. CONCLUSIONS: This study confirms previous findings on a low risk of SARS-CoV-2 reinfection. If confirmed, these findings suggest that more targeted restriction policies can be applied to the subjects that recovered after a first infection.

[Prevention in regional policy]. / La prevenzione nelle politiche regionali.

Prevention, safety and health promotion represent fondamental issues in the Regional policy. With this regard, the implementation of the Regional policy has been thought as the promotion of an integrated system which links different fields such as health, work-related information and education, job orientation and work in general. It is recommended that a good standard of prevention is achieved through the synergic actions and the collaborations among all the different actors playing a role in safety and prevention in workplace, including occupational physicians, safety and prevention operators, safety representatives for workers, trade unions, employers associations and public institutions. It is also necessary to adopt a strategy in order to decrease the number of misdiagnosed occupational diseases as well as to promote the "culture of safety in workplaces", increasing the awareness of all figures, with special focus on employers category. All this has to be set in the new scenario of the nowadays work characterized by the progressive increase of atypical job contracts, renewing the emphasis on the necessity of keeping joined "the right to a job with the right to health".

[Torsion of a wandering spleen: ultrasonography and computer tomography in conservative treatment. A case report]. / Torsione di milza migrante: aspetti ecografici e TC di un caso trattato conservativamente.

Torsion of the vascular pedicle in a wandering spleen is treated conservatively in most of the cases whenever irreversible necrosis of the organ is not occurred. A case, in a 10 years old boy, is reported. The patient was admitted for acute abdominal pain and was investigated by ultrasounds, which showed an ectopic enlarged spleen at the left flank, without any sign of parenchymal necrosis. A spiral contrast enhanced angio-CT scan confirmed the diagnosis and demonstrated multiple ischemic lesions of splenic pulp mainly at the lower pole. The child was treated with splenopexy followed by un uneventful recovery. CT scan study in cases of torsion of a wandering spleen is of great help in confirming clinical and ultrasonographic diagnosis and in demonstrating the amount of ischemic lesion of the organ before surgical exploration.

Preliminary report: Amino acid profile in platelets of diabetic patients.

Platelet levels of 19 amino acids were measured in 20 outpatients with type 1 (age [mean +/- SE], 35.5 +/- 2.0 years) and 27 with type 2 (age, 58.4 +/- 1.4 years) diabetes, and 20 young (age 33.7 +/- 1.3 years) and 20 older (age 57.4 +/- 1.5 years) healthy volunteers. Platelet levels of most amino acids tended to be lower in patients with type 1 diabetes than in healthy controls. In particular, asparagine, glycine, taurine, alanine, valine, cysteine, leucine, phenylalanine, and lysine levels, expressed as nmol/10(8) platelets, were significantly lower. Only taurine significantly decreased in patients with type 2 diabetes, whereas threonine, alanine, and isoleucine increased.

Taurine and osmoregulation: platelet taurine content, uptake, and release in type 2 diabetic patients.

In this study, plasma and platelet taurine content and fluxes were determined in 38 type 2 diabetic patients and in 26 healthy control subjects. Taurine levels in diabetic patients were significantly lower than in control subjects both in plasma (32.1 v 48.6 micromol/L, P = .000) and platelets (148 v 183 nmol/mg protein, P = .043). Platelet taurine uptake in diabetic patients was significantly reduced (321.2 v 524.9 pmol total taurine 10(8) platelet(-1) min(-20), P = .000), whereas taurine release increased in comparison to healthy controls (38.7 v 29.5% of platelet 3H taurine at the start of incubation, P = .000). These results may reflect modified systems of taurine carriers or a compensatory mechanism in response to an increase of other organic osmolytes.

Thyroxine effects on polyamine metabolism in rat cerebellum and brain cortex during postnatal development.

Polyamine content, ODC and SAMDC activities have been assayed in cerebellum and brain cortex of hyperthyroid rats during postnatal development. Daily thyroxine treatment induced ODC and SAMDC biosynthesis in early periods of postnatal life in both cerebellum and brain cortex. In addition, in comparison to controls an increase in spermidine and spermine content was shown to occur in hyperthyroid rats. A functional correlation between polyamine content and nucleic acids could explain a correlation between polyamine biosynthesis and morphofunctional maturative processes in the brain.

A decrease in guanylate cyclase activity in some tissues of C3H/HeJ mice with retinal dystrophy.

Guanylate cyclase activity was assayed in homogenates, in particulate and soluble fractions from retina, cerebellum, cerebral cortex and adrenal gland of adult C3H/HeJ mice with a dystrophic retinopathy. In comparison to control mice (DBA/1J), in C3H/HeJ strain a significant decrease in guanylate cyclase activity occurred in homogenates from retina, cerebellum and adrenal gland. In particular a significant decrease was found in particulate fraction of retina, in the soluble fraction of cerebral cortex and cerebellum and in both fractions of the adrenal gland. In contrast to the retina and cerebellum where guanylate cyclase activity in homogenates was found significantly decreased both in the male and female, in the cerebral cortex guanylate cyclase decreased in both sexes although in female this was more marked.