Screening for Common Fetal Trisomies in Twin Pregnancies : First-Trimester Combined, Cell-Free DNA, or Both?

Objective: To examine the distribution of risks for fetal trisomies after first-trimester combined screening in twins and to investigate different strategies for clinical implementation of cell-free DNA (cfDNA) testing. Methods: We retrospectively analyzed all twin pregnancies undergoing first-trimester combined screening over a 10 years' period. The population was stratified according to various risk cut-offs, and we examined different screening strategies for implementation of cfDNA testing in terms of impact on invasive testing rate, cfDNA test failure rate, and economic costs. Results: We included 572 twin pregnancies: 480 (83.92%) dichorionic and 92 (16.08%) monochorionic. Performing a first-line combined screening and offering cfDNA testing to the group with a risk between 1 in 10 and 1 in 1,000, would lead to an invasive testing rate of 2.45%, and cfDNA testing would be performed in 22.20% of the population. This strategy would be cost-neutral compared to universal combined screening alone. Conclusions: First-trimester combined screening results can be used to stratify twin pregnancies into different risk categories and select those that could be offered cfDNA testing. A contingent screening strategy would substantially decrease the need for invasive testing in twins and it would be cost-neutral compared to combined testing alone

Early Detection of Microvascular Changes in Patients with Diabetes Mellitus without and with Diabetic Retinopathy: Comparison between Different Swept-Source OCT-A Instruments

Optical coherence tomography angiography (OCT-A) has recently improved the ability to detect subclinical and early clinically visible microvascular changes occurring in patients with diabetes mellitus (DM). The aim of the present study is to evaluate and compare early quantitative changes of macular perfusion parameters in patients with DM without DR and with mild nonproliferative DR (NPDR) evaluated by two different swept-source (SS) OCT-A instruments using two scan protocols (3 73 mm and 6 76 mm). One hundred eleven subjects/eyes were prospectively evaluated: 18 healthy controls (control group), 73 eyes with DM but no DR (no-DR group), and 20 eyes with mild NPDR (DR group). All quantitative analyses were performed using ImageJ and included vessel and perfusion density, area and circularity index of the FAZ, and vascular complexity parameters. The agreement between methods was assessed according to the method of Bland-Altman. A significant decrease in the majority of the considered parameters was found in the DR group versus the controls with both instruments. The results of Bland-Altman analysis showed the presence of a systemic bias between the two instruments with PLEX Elite providing higher values for the majority of the tested parameters when considering 6 76 mm angiocubes and a less definite difference in 3 73 mm angiocubes. In conclusion, this study documents early microvascular changes occurring in the macular region of patients at initial stages of DR, confirmed with both SS OCT-A instruments. The fact that early microvascular alterations could not be detected with one instrument does not necessarily mean that these alterations are not actually present, but this could be an intrinsic limitation of the device itself. Further, larger longitudinal studies are needed to better understand microvascular damage at very early stages of diabetic retinal disease and to define the strengths and weaknesses of different OCT-A devices

U and Th content in the Central Apennines continental crust: a contribution to the determination of the geo-neutrinos flux at LNGS

The regional contribution to the geo-neutrino signal at Gran Sasso National Laboratory (LNGS) was determined based on a detailed geological, geochemical and geophysical study of the region. U and Th abundances of more than 50 samples representative of the main lithotypes belonging to the Mesozoic and Cenozoic sedimentary cover were analyzed. Sedimentary rocks were grouped into four main "Reservoirs" based on similar paleogeographic conditions and mineralogy. Basement rocks do not outcrop in the area. Thus U and Th in the Upper and Lower Crust of Valsugana and Ivrea-Verbano areas were analyzed. Based on geological and geophysical properties, relative abundances of the various reservoirs were calculated and used to obtain the weighted U and Th abundances for each of the three geological layers (Sedimentary Cover, Upper and Lower Crust). Using the available seismic profile as well as the stratigraphic records from a number of exploration wells, a 3D modelling was developed over an area of 2^{\circ}x2^{\circ} down to the Moho depth, for a total volume of about 1.2x10^6 km^3. This model allowed us to determine the volume of the various geological layers and eventually integrate the Th and U contents of the whole crust beneath LNGS. On this base the local contribution to the geo-neutrino flux (S) was calculated and added to the contribution given by the rest of the world, yielding a Refined Reference Model prediction for the geo-neutrino signal in the Borexino detector at LNGS: S(U) = (28.7 \pm 3.9) TNU and S(Th) = (7.5 \pm 1.0) TNU. An excess over the total flux of about 4 TNU was previously obtained by Mantovani et al. (2004) who calculated, based on general worldwide assumptions, a signal of 40.5 TNU. The considerable thickness of the sedimentary rocks, almost predominantly represented by U- and Th- poor carbonatic rocks in the area near LNGS, is responsible for this difference.Comment: 45 pages, 5 figures, 12 tables; accepted for publication in GC

Desde la la salud pública, curricularizar la extensión

La Facultad de Veterinaria, UNLP, desde el año 2012,desarrolla un proyecto de extensión en el que participan diferentes cursos de la carrera donde los alumnos aplican sus conocimientos en el marco de la Atención Primaria de la Salud y la Prevención de Zoonosis. La salud pública es uno de los alcances profesionales de los Médicos Veterinarios, su abordaje en el grado es a través de cursos que ponen énfasis en la estadística y en la epidemiologia. Articular los conocimientos y saberes con la práctica a la que se enfrentarán los futuros profesionales y prepararlos para el trabajo interdisciplinario es todo un desafío. En este sentido hemos incorporado al proyecto, a la Cátedra de Psicología Preventiva de la Facultad de Psicologíay Trabajo Social II de la Carrera de Trabajo Social. Es importante enfatizar que partimos de una concepción integral de la salud. La intervención desdela Psicología se relaciona con el cambio de actitudes y de conductas. Se pretendeintervenir sobre los factores de riesgo y desarrollar una culturadel cuidado de los otros y del autocuidado. La participación de los estudiantes de Trabajo Social aporta acciones de difusión, prevención de enfermedad y promoción de la salud, e información específica del escenario comunitario.Facultad de Ciencias VeterinariasFacultad de Trabajo SocialFacultad de Psicologí

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

Early-stage rifting of the northern Tyrrhenian Sea Basin: Results from a combined wide-angle and multichannel seismic study

Extension of the continental lithosphere leads to the formation of rift basins and ultimately may create passive continental margins. The mechanisms that operate during the early stage of crustal extension are still intensely debated. We present the results from coincident multichannel seismic and wide-angle seismic profiles that transect across the northern Tyrrhenian Sea Basin. The profiles cross the Corsica Basin (France) to the Latium Margin (Italy) where the early-rift stage of the basin is well preserved. We found two domains, each with a distinct tectonic style, heat flow and crustal thickness. One domain is the Corsica Basin in the west that formed before the main rift phase of the northern Tyrrhenian Sea opening (∼8–4 Ma). The second domain is rifted continental crust characterized by tilted blocks and half-graben structures in the central region and at the Latium Margin. These two domains are separated by a deep (∼10 km) sedimentary complex of the eastern portion of the Corsica Basin. Travel-time tomography of wide-angle seismic data reveals the crustal architecture and a subhorizontal 15–17 ± 1 km deep Moho discontinuity under the basin. To estimate the amount of horizontal extension we have identified the pre-, syn-, and post-tectonic sedimentary units and calculated the relative displacement of faults. We found that major faults initiated at angles of 45°–50° and that the rifted domain is horizontally stretched by a factor of β ∼ 1.3 (∼8–10 mm/a). The crust has been thinned from ∼24 to ∼17 km indicating a similar amount of extension (∼30%). The transect represents one of the best imaged early rifts and implies that the formation of crustal-scale detachments, or long-lived low-angle normal faults, is not a general feature that controls the rift initiation of continental crust. Other young rift basins, like the Gulf of Corinth, the Suez Rift or Lake Baikal, display features resembling the northern Tyrrhenian Basin, suggesting that half-graben formations and distributed homogeneous crustal thinning are a common feature during rift initiation