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

BackgroundElectrocardiogram (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 MethodsTo 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.ResultsThe 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 & LE; 9 mm (n = 52, 28%); group B 10-14 mm (n = 76, 40%); group C 15-19 mm (n = 46, 24%); group D & GE; 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%).ConclusionsECG 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

Tc-99m labelled bone scintigraphy in suspected cardiac amyloidosis

AIMS: To perform evaluation of widely embraced bone scintigraphy-based non-biopsy diagnostic criteria (NBDC) for ATTR amyloid cardiomyopathy (ATTR-CM) in clinical practice, and to refine serum free light chain (sFLC) ratio cut-offs that reliably exclude monoclonal gammopathy (MG) in chronic kidney disease. METHODS AND RESULTS: A multi-national retrospective study of 3354 patients with suspected or histologically proven cardiac amyloidosis (CA) referred to specialist centres from 2015 to 2021; evaluations included radionuclide bone scintigraphy, serum and urine immunofixation, sFLC assay, eGFR measurement and echocardiography. Seventy-nine percent (1636/2080) of patients with Perugini grade 2 or 3 radionuclide scans fulfilled NBDC for ATTR-CM through absence of a serum or urine monoclonal protein on immunofixation together with a sFLC ratio falling within revised cut-offs incorporating eGFR; 403 of these patients had amyloid on biopsy, all of which were ATTR type, and their survival was comparable to non-biopsied ATTR-CM patients (p = 0.10). Grade 0 radionuclide scans were present in 1091 patients, of whom 284 (26%) had CA, confirmed as AL type (AL-CA) in 276 (97%) and as ATTR-CM in only one case with an extremely rare TTR variant. Among 183 patients with grade 1 radionuclide scans, 122 had MG of whom 106 (87%) had AL-CA; 60/61 (98%) without MG had ATTR-CM. CONCLUSION: The NBDC for ATTR-CM are highly specific [97% (95% CI 0.91-0.99)] in clinical setting, and diagnostic performance was further refined here using new cut-offs for sFLC ratio in patients with CKD. A grade 0 radionuclide scan all but excludes ATTR-CM but occurs in most patients with AL-CA. Grade 1 scans in patients with CA and no MG are strongly suggestive of early ATTR-type, but require urgent histologic corroboration

Synthesis, structure and luminescence of Er3+-doped Y3Ga5O12 nano-garnets

A novel Y3(1-x)Er3xGa5O12 nanocrystalline garnet has been synthesized by a sol-gel technique and a complete structural, morphological, vibrational, and optical characterization has been carried out in order to correlate the local structure of the Er3+ ions with their optical properties. The synthesized nanocrystals are found in a single-phase garnet structure with an average grain size of around 60 nm. The good crystalline quality of the garnet structure is confirmed by FTIR and Raman measurements, since the phonon modes of the nano-garnet are similar to those found in the single crystal garnet. Under blue laser excitation, intense green and red visible and 1.5 mu m infrared luminescences are observed, whose relative intensities are very sensitive to the Er3+ concentration. The dynamics of these emissions under pulsed laser excitations are analyzed in the framework of different energy transfer interactions. Intense visible upconverted luminescence can be clearly observed by the naked eye for all synthesized Er3+-doped Y3Ga5O12 nano-garnets under a cw 790 nm laser excitation. The power dependency and the dynamics of the upconverted luminescence confirm the existence of different two-photon upconversion processes for the green and red emissions that strongly depend on the Er3+ concentration, showing the potential of these nano-garnets as excellent candidates for developing new optical devices.This work has been partially supported by Ministerio de Ciencia e Innovacion of Spain (MICCIN) under The National Program of Materials (MAT2010-21270-C04-02; -03; -04), The Consolider-Ingenio 2010 Program (MALTA CSD2007-0045), and The National Infrastructure Program, by Ministerio de Economia y Competitividad of Spain (MINECO) within The Indo-Spanish Joint Programme of Cooperation in Science and Technology (PRI-PIBIN-2011-1153/DST-INT-Spain-P-38-11), and by the EU-FEDER funds (UCAN08-4E-008). S.F. Leon-Luis and V. Monteseguro wish to thank MICINN for the FPI grants (BES-2008-003353 and BES-2011-044596). Dr V. Venkatramu is grateful to DAE-BRNS, Government of India for the award of DAE Research Award for Young Scientists (no. 2010/20/34/5/BRNS/2223).Venkatramu, V.; León-Luis, SF.; Rodriguez-Mendoza, UR.; Monteseguro, V.; Manjón, FJ.; Lozano-Gorrín, AD.; Valiente, R.... (2012). Synthesis, structure and luminescence of Er3+-doped Y3Ga5O12 nano-garnets. Journal of Materials Chemistry. 22:13788-13799. doi:10.1039/c2jm31386cS13788137992

Axenic Culture and Induction of Callus and Sporophytes of the Appalachian Vittaria Gametophyte

Volume: 72Start Page: 36End Page: 4

Structural and trasport properties of Bola-C16 micelles in water and aqueous electrolite solutions

Aqueous solutions containing a bolaform surfactant [R,\u3c9-(4,7,10,13-pentaoxa-16-azacyclooctadecane)- hexadecane], with and without electrolytes have been investigated as a function of surfactant concentration and ionic strength. Small angle neutron scattering (SANS), NMR self-diffusion, and other physical-chemical methods were used. From the analysis of SANS data it was inferred that in water the surfactant forms slightly charged ellipsoidal micelles, because of the partial hydrolysis of amino groups. The aggregates grow with the increase of concentration, becoming more elongated. Due to the selective complexing ability of aza crown ether units, significant differences were observed upon addition of LiCl, NaCl, and HCl. LiCl gives rise only to a screening of electrostatic repulsion between micelles. NaCl, in addition to the screening effect, induces a reduction of micelle aggregation number as a consequence of the increased repulsion between charged headgroups. The micelle size reduction is much stronger in the presence of HCl, which screens the micelle interactions once the surfactant is completely in ionic form. The aforementioned effects increase, as expected, on increasing the electrolyte concentration. They are in line with information on the complexation of sodium and proton by the aza crown units, inferred by ionic conductivity and potentiometric findings