Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis

AIMS: The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement.METHODS AND RESULTS: We included 159 relatives (median age 55.6 [43.2-65.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class ≥II) and pacemaker-requiring conduction disorders. At baseline, 40/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (≤10 years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%.CONCLUSIONS: Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common.</p

Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis

AIMS: The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement.METHODS AND RESULTS: We included 159 relatives (median age 55.6 [43.2-65.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class ≥II) and pacemaker-requiring conduction disorders. At baseline, 40/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (≤10 years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%.CONCLUSIONS: Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common.</p

Human\u2013Robot Collaboration in Manufacturing Applications: A Review

This paper provides an overview of collaborative robotics towards manufacturing applications. Over the last decade, the market has seen the introduction of a new category of robots&mdash;collaborative robots (or &ldquo;cobots&rdquo;)&mdash;designed to physically interact with humans in a shared environment, without the typical barriers or protective cages used in traditional robotics systems. Their potential is undisputed, especially regarding their flexible ability to make simple, quick, and cheap layout changes; however, it is necessary to have adequate knowledge of their correct uses and characteristics to obtain the advantages of this form of robotics, which can be a barrier for industry uptake. The paper starts with an introduction of human&ndash;robot collaboration, presenting the related standards and modes of operation. An extensive literature review of works published in this area is undertaken, with particular attention to the main industrial cases of application. The paper concludes with an analysis of the future trends in human&ndash;robot collaboration as determined by the authors

Il terremoto di Palermo (6 Settembre 2002) nel quadro della tettonica attiva della Sicilia nord occidentale e del Tirreno meridionale.

In questo lavoro sono stati integrati i dati geologici di superficie e di sottosuolo disponibili per la Sicilia nord-occidentale e quelli relativi al Tirreno meridionale unitamente ai dati sismologici raccolti durante la crisi sismica associata al terremoto di Palermo del 6 Settembre 2002, al fine di definire un modello di deformazione attiva dell’area. La localizzazione accurata degli ipocenti dei terremoti avvenuti nel Tirreno meridionale dal 1988 all’Ottobre 2002, ha consentito di definire due zone sismogenetiche principali. La prima, ad alto angolo, immergente a nord ovest, che si estende fino ad una profondità di circa 400 km e probabilmente associata con lo slab di litosfera ionica in subduzione al di sotto dell’Arco Calabro; la seconda, localizzata nella parte più superficiale della litosfera sud-tirrenica (a profondità per lo più inferiore a 25 km). Gli ipocentri contenuti nella zona sismogenetica più superficiale sono, nel loro insieme, distribuiti parallelamente alla costa nord-siciliana. I risultati di questo studio evidenziano che la suddetta zona può essere interpretata come una zona di taglio trascorrente destra, di dimensione crostale/litosferica, all’interno della quale sono localizzate numerose faglie di rango inferiore e di differente tipologia le quali accomodano la deformazione corrente. La sequenza sismica di Palermo, iniziata il 6 Settembre 2002 con un evento di Magnitudo (Ml) pari a 5.6, si colloca all’interno di questa zona di taglio; inoltre, l’analisi degli aftershock e dei meccanismi focali degli eventi principali della sequenza, evidenziano una distribuzione in direzione circa NE-SO e una compressione orientata NO-SE

Observatory science with eXTP

International audienceIn this White Paper we present the potential of the enhanced X-ray Timing and Polarimetry (eXTP) mission for studies related to Observatory Science targets. These include flaring stars, supernova remnants, accreting white dwarfs, low and high mass X-ray binaries, radio quiet and radio loud active galactic nuclei, tidal disruption events, and gamma-ray bursts. eXTP will be excellently suited to study one common aspect of these objects: their often transient nature. Developed by an international Consortium led by the Institute of High Energy Physics of the Chinese Academy of Science, the eXTP mission is expected to be launched in the mid 2020s