The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy

Background: Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMD mutation type and location, and variants in other genes. Methods and Results: We retrospectively collected 3138 echocardiographic measurements of left ventricular ejection fraction (EF), shortening fraction (SF), and end-diastolic volume (EDV) from 819 DMD participants, 541 from an Italian multicentric cohort and 278 from the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS). Using generalized estimating equation (GEE) models, we estimated the yearly rate of decrease of EF (–0.80%) and SF (–0.41%), while EDV increase was not significantly associated with age. Utilizing a multivariate generalized estimating equation (GEE) model we observed that mutations preserving the expression of the C-terminal Dp71 isoform of dystrophin were correlated with decreased EDV (–11.01 mL/m2 , p = 0.03) while for dp116 were correlated with decreased EF (–4.14%, p = Conclusions: We quantitatively describe the progression of systolic dysfunction progression in DMD, confirm the effect of distal dystrophin isoform expression on the dystrophin-deficient heart, and identify a strong effect of LTBP4 genotype of DCM in DMD

NEMO-SN1 Abyssal Cabled Observatory in the Western Ionian Sea

The NEutrinoMediterranean Observatory—Submarine Network 1 (NEMO-SN1) seafloor observatory is located in the central Mediterranean Sea, Western Ionian Sea, off Eastern Sicily (Southern Italy) at 2100-m water depth, 25 km from the harbor of the city of Catania. It is a prototype of a cabled deep-sea multiparameter observatory and the first one operating with real-time data transmission in Europe since 2005. NEMO-SN1 is also the first-established node of the European Multidisciplinary Seafloor Observatory (EMSO), one of the incoming European large-scale research infrastructures included in the Roadmap of the European Strategy Forum on Research Infrastructures (ESFRI) since 2006. EMSO will specifically address long-term monitoring of environmental processes related to marine ecosystems, marine mammals, climate change, and geohazards

Notulae to the Italian alien vascular flora: 12

In this contribution, new data concerning the distribution of vascular flora alien to Italy are presented. It includes new records, confirmations, exclusions, and status changes for Italy or for Italian administrative regions. Nomenclatural and distribution updates published elsewhere are provided as Suppl. material 1

The association of indwelling urinary catheter with delirium in hospitalized patients and nursing home residents: an explorative analysis from the "Delirium Day 2015"

Backround: Use of indwelling urinary catheter (IUC) in older adults has negative consequences, including delirium. Aim: This analysis, from the "Delirium Day 2015", a nationwide multicenter prevalence study, aim to evaluate the association of IUC with delirium in hospitalized and Nursing Homes (NHs) patients. Methods: Patients underwent a comprehensive geriatric assessment, including the presence of IUC; inclusion criteria were age > 65 years, being Italian speaker and providing informed consent; exclusion criteria were coma, aphasia, end-of-life status. Delirium was assessed using the 4AT test (score ≥ 4: possible delirium; scores 1-3: possible cognitive impairment). Results: Among 1867 hospitalized patients (mean age 82.0 ± 7.5 years, 58% female), 539 (28.9%) had IUC, 429 (22.9%) delirium and 675 (36.1%) cognitive impairment. IUC was significantly associated with cognitive impairment (OR 1.60, 95% CI 1.19-2.16) and delirium (2.45, 95% CI 1.73-3.47), this latter being significant also in the subset of patients without dementia (OR 2.28, 95% CI 1.52-3.43). Inattention and impaired alertness were also independently associated with IUC. Among 1454 NHs residents (mean age 84.4 ± 7.4 years, 70.% female), 63 (4.3%) had IUC, 535 (36.8%) a 4AT score ≥ 4, and 653 (44.9%) a 4AT score 1-3. The multivariate logistic regression analysis did not show a significant association between 4AT test or its specific items with IUC, neither in the subset of patients without dementia. Discussion: We confirmed a significant association between IUC and delirium in hospitalized patients but not in NHs residents. Conclusion: Environmental and clinical factors of acute setting might contribute to IUC-associated delirium occurrence

Optimizing the “Time to pregnancy” in women with multiple sclerosis: the OPTIMUS Delphi survey

BackgroundThe debate on how to manage women affected by multiple sclerosis (MS) during reproductive age is still open, as is the issue of fertility in such patients. Main issue regard the identification of the optimal window for pregnancy and how to deal with medical therapy before and during conception. The aim of this Delphi consensus was to collect the opinions of a multidisciplinary group, involving reproductive medicine specialists and neurologists with experience in the management of multiple sclerosis women with reproductive desire.MethodsFour experts plus scientific coordinators developed a questionnaire distributed online to 10 neurologists and later discussed the responses and amended a list of statements. The statements were then distributed via an online survey to 23 neurologists (comprising the first 10), who voted on their level of agreement/disagreement with each statement. Consensus was achieved if agreement or disagreement with a statement exceeded 66%.ResultsTwenty-one statements reached consensus after two rounds of voting, leading to the following main recommendations: (1) Fertility evaluation should be suggested to wMS, in case of the need to shorten time to pregnancy and before treatment switch in women on DMTs contraindicated in pregnancy, particularly in case of highly active disease and age > 35 years. (2) ART should not be discouraged in wMS, but the use of DMTs until pregnancy confirmation should be suggested; ART may be considered in order to reduce time to pregnancy in MS women with a reduced ovarian reserve and/or age > 35 years, but in case of an expected poor ART prognosis and the need for more than one ART cycle, a switch to a high-efficacy DMD before ART should be offered. (3) Oocyte cryopreservation may be considered in women with reduced ovarian reserve, with unpredictable time to complete diagnostic workup and achieve disease control; a risk/cost–benefit analysis must be performed in women >35 years, considering the diminished ovarian reserve.ConclusionThis consensus will help MS neurologists to support family planning in wMS, respecting MS therapeutic needs while also taking into account the safety and impact of advancing age on fertility

“Balanced” or “polarized” entrepreneurial ecosystem types? Evidence from Italy

Entrepreneurial ecosystems (EE) are particular systems of interdependent actors and relations that directly or indirectly support the creation and growth of new ventures. EE can vary a lot, based on a unique and dynamic combination of several elements whose relevance can differ across regions. Most studies acknowledged, or ex-ante assumed, that EE elements are all relevant to the same extent, yet others suggest that some EE elements are more important in creating the environmental conditions necessary to foster entrepreneurship in a specific territory. In this paper, we contend that research should provide evidence on this territory-specific matter. Specifically, more evidence is needed on the relevance of each EE element at regional level—as we lack empirical analysis that discriminates between EE types according to elements’ importance. To fill this gap, we assess and characterize the existence of EE types at the regional level in Italy. Our findings suggest that four EE types exist, and they are characterized by a balanced combination of EE elements. On the basis of our results, we generate propositions providing insights that may be useful for future research and policymaking

Mindfulness and pharmacological prophylaxis have comparable effect on biomarkers of inflammation and clinical indexes in chronic migraine with medication overuse: results at 12 months after withdrawal

Chronic migraine (CM) is a disabling condition arising from a complex mixture of interconnected biological, psychological and social factors, and is often associated with medication overuse (MO). Mindfulness is emerging as a helpful treatment for pain, and one study showed that the longitudinal 12 months’ course of CM-MO patients that attended mindfulness-based treatment alone was similar to that of patients receiving medical prophylaxis alone; in this study, we describe the course of biomarkers of inflammation. Our results provide initial evidence of sustained similar effects on reduced concentration of biomarkers of inflammation, although not sizeable enough to reach statistical significance. Whether more intensive treatment and/or larger samples would lead to greater changes is unknown, but these encouraging preliminary findings suggest further research is warranted

INVERSE RELATIONSHIP BETWEEN AORTIC ROOT DIAMETER AND RENAL FUNCTION IN HYPERTENSIVE SUBJECTS

Introduction: Dilatation of aortic root is associated with presence and severity of aortic regurgitation and risk for aortic dissection. Recent studies performed in general population suggest that enlarged aortic root diameter (ARD) may predict cardiovascular events in absence of aneurysmatic alterations. Little is known about the influence of renal function on ARD. Aim: To assess the relationships between glomerular filtration rate (GFR) and ARD in hypertensive subjects. Methods: We enrolled 611 hypertensive individuals (mean age: 52 ± 15 years; men 63 %) consecutively attending our outpatient nephrology and hypertension unit. Patients on dialysis treatment, with valvulopathy more than mild, bicuspid aortic valve, previous cardiovascular events and genetic aortic diseases were excluded. All the subjects underwent echocardiography. ARD was measured at the level of Valsalva’s sinuses by M-mode tracings, under twodimensional control. In line with the PAMELA study, ARD, ARD indexed to body surface area (ARD/BSA) and to height (ARD/H) were considered increased when they exceeded 3.8 cm, 2.1 cm/m2, 2.3 cm/m in men and 3.4 cm, 2.2 cm/m2, 2.2 cm/m in women, respectively. GFR was estimated by the CKD-EPI equation. Results: Estimated GFR (eGFR) was lower in subjects with values of ARD, ARD/BSA and ARD/H above the sexspecific cut-offs when compared to those with normal aortic root size (all p\0.0001). eGFR correlated significantly with ARD (r = -0.17), ARD/BSA (r = -0.43) and ARD/H (r = -0.40; all p\0.001). The associations of eGFR with ARD/BSA (b = -0.23) and ARD/H (b = - 0.17; all p\0.001) held in linear multiple regression analyses, after adjustment for various confounding factors. Conclusions: Our study seems to suggest that a reduced renal function may adversely influence ARD. This may contribute to explain the enhanced cardiovascular risk associated with renal insufficiency

Notulae to the Italian native vascular flora: 2

In this contribution new data concerning the Italian distribution of native vascular flora are presented. It includes new records, exclusions, and confirmations to the Italian administrative regions for taxa in the genera Arctostaphylos, Artemisia, Buglossoides, Convolvulus, Crocus, Damasonium, Epipogium, Ficaria, Filago, Genista, Heptaptera, Heracleum, Heteropogon, Hieracium, Myosotis, Ononis, Papaver, Pilosella, Polygonum, Pulmonaria, Scorzonera, Silene, Trifolium, Vicia and Viola

RIVELAZIONE DI SEGNALI ACUSTICI DA PROSPEZIONI GEOFISICHE (AIRGUNS) NEL GOLFO DI CATANIA, MAR IONIO. POSSIBILI IMPATTI SULL’AMBIENTE MARINO.

Gli airgun sono tra le sorgenti di rumore più invasive per l’ambiente marino, con effetti nocivi su invertebrati, pesci e cetacei. L'analisi dei dati acustici dell'osservatorio NEMO-SN1 ha consentito di monitorare in modo continuativo, per circa 10 mesi, il rumore sottomarino nel Golfo di Catania. La presenza di impulsi airgun è stata rivelata quasi giornalmente, tra novembre 2012 e febbraio 2013. Gli impulsi registrati sono compatibili con sorgenti distanti centinaia di km dall’area di studio