Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

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Sicily monthly high-resolution solar radiation climatologies

We present a methodology developed to estimate solar radiation climatologies starting from a network of global radiation and/or sunshine duration records and a digital elevation model. It allows obtaining high-resolution grids of monthly normal values for direct, diffuse and global radiation on an inclined surface. We discuss the application of the methodology to a data set of 41 Sicilian global radiation records and the resulting 2002-2011 monthly radiation climatologies.JRC.H.7-Climate Risk Managemen

Obstructive intramural coronary amyloidosis: a distinct phenotype of cardiac amyloidosis that can cause acute heart failure.

66-year-old man was admitted to a cardiology unit with diagnosis of congestive heart failure, having complained of worsening asthenia and myalgia for several months before referral. Family history was aspecific. Echocardiography showed a moderately dilated and uniformly hypokinetic left ventricle (end-diastolic diameter 68 mm; ejection fraction 35%); wall thickness was normal. Coronary angiography showed normal epicardial arteries. After temporary improvement during treatment with beta-blockers and ACE-inhibitors, heart failure became severe and left ventricular ejection fraction fell to 20%. Suspected myocarditis prompted a right ventricular endomyocardial biopsy (Panel A), which excluded inflammation but identified amyloid infiltration of small intramural vessels without interstitial involvement. A left ventricular assist device was urgently implanted: histopathological examination of the excised left ventricular apex confirmed obstructive intramural coronary amyloidosis without interstitial deposits and with foci of coagulative necrosis. The patient died a few days later because of gastroenteric haemorrhage (autopsy was not performed) (Panels B–D). This case documents the existence of isolated intramural coronary obstruction as a peculiar phenotype of cardiac amyloidosis (distinct from the more common amyloidotic cardiomyopathy) (Panels E–I). This rare type of amyloidotic cardiac involvement—which in this patient led to a mistaken clinical diagnosis of myocarditis—must be recognized as one of the possible causes of acute or rapidly progressive heart failure

A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations

Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis. We report a case of a neonate who developed severe discrete aortic coarctation, underwent multiple surgical interventions, and was subsequently diagnosed with WBS. Severe discrete aortic coarctation is a rare event in WBS newborns. An abnormally thick aortic wall is present in these patients and is the basis of the failure of the classical approach towards coarctation repair, which consists of end-to-end anastomosis as first surgical choice. Our case, and a very few similar previously documented cases, have all demonstrated recoarctation, which only aortic patch implantation was able to successfully repair. In light of this, we would also like to underline the importance of early WBS diagnosis. Therefore, even in mild syndromic phenotype such as low birth weight or facial dysmorphism that raise the suspicion of a genetic syndrome, it is advisable to perform fluorescent in situ hybridization analysis rather than merely karyotypic one

Design and biofabrication of bacterial living materials with robust and multiplexed biosensing capabilities

The intertwined adoption of synthetic biology and 3D bioprinting has the potential to improve different application fields by fabricating engineered living materials (ELMs) with unnatural genetically-encoded sense & response capabilities. However, efforts are still needed to streamline the fabrication of sensing ELMs compatible with field use and improving their functional complexity. To investigate these two unmet needs, we adopted a workflow to reproducibly construct bacterial ELMs with synthetic biosensing circuits that provide red pigmentation as visible readout in response to different proof-of-concept chemical inducers. We first fabricated single-input/single-output ELMs and we demonstrated their robust performance in terms of longevity (cell viability and evolutionary stability >15 days, and long-term storage >1 month), sensing in harsh, non-sterile or nutrient-free conditions compatible with field use (soil, water, and clinical samples, including real samples from Pseudomonas aeruginosa infected patients). Then, we fabricated ELMs including multiple spatially-separated biosensor strains to engineer: level-bar materials detecting molecule concentration ranges, multi-input/multi-output devices with multiplexed sensing and information processing capabilities, and materials with cell-cell communication enabling on-demand pattern formation. Overall, we showed successful field use and multiplexed functioning of reproducibly fabricated ELMs, paving the way to a future automation of the prototyping process and boosting applications of such devices as in-situ monitoring tools or easy-to-use sensing kits

REM and NREM sleep enactment behaviors in Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies

none8Background/objective: Nocturnal sleep enactment behaviors (SEBs) are common in patients affected by Parkinson's disease (PD), dementia associated with Parkinson's disease (PDD), and dementia with Lewy bodies (DLB). We investigated the occurrence and neurobiological significance of abnormal SEBs in the context of PD without cognitive decline compared to PDD/DLB patients. Methods: We evaluated a sample of 139 patients with PD, PDD, or DLB in a cross-sectional survey. One hundred and seventeen patients showing either no cognitive impairment (PD group) or meeting the diagnostic requirements for dementia (PDD/DLB group) underwent video-polysomnography. Seventy subjects (42 males) in whom a clear-cut diagnosis of abnormal sleep-related motor-behavioral episodes was possible were included in the final analysis. Results: SEBs consisting of RBD or occurring on arousal from NREM or REM sleep were globally more frequent in the dementia group (PDD/DLB) than in the PD group (p= 0.001), the difference being statistically significant for arousal-related episodes (p= 0.002), while a trend emerged for RBD (p= 0.07). Male sex, daytime sleepiness, higher motor impairment, and lower mini-mental score were significantly more frequent with the occurrence of abnormal sleep-related motor-behavioral episodes. Conclusion: SEBs in PD, PDD, and DLB may consist of RBD episodes or of arousal-related NREM and REM episodes. These latter are more frequent in patients with PDD/DLB and seem to be mainly related to more advanced stages of disease with a higher degree of cognitive decline. © 2012 Elsevier B.V.noneRatti P.-L.; Terzaghi M.; Minafra B.; Repetto A.; Pasotti C.; Zangaglia R.; Pacchetti C.; Manni R.Ratti, P. -L.; Terzaghi, M.; Minafra, B.; Repetto, A.; Pasotti, C.; Zangaglia, R.; Pacchetti, C.; Manni, R

Prognostic relevance of pulmonary arterial compliance in patients with chronic heart failure.

ABSTRACT BACKGROUND A reduced pulmonary arterial compliance (Ca) is a marker of poor prognosis in idiopathic pulmonary arterial hypertension. We tested the hypothesis that Ca could be a predictor of outcome in patients with chronic heart failure (CHF). METHODS We enrolled 306 patients with CHF due to systolic left ventricular dysfunction (sLVD) who underwent a clinically driven right heart catheterization. Pulmonary arterial Ca was measured by the ratio between stroke volume and pulse pressure (SV/PP). The primary end-point was cardiovascular death; secondary end-point was the composite of cardiovascular death, urgent heart transplantation and appropriately detected and treated episode of ventricular fibrillation. RESULTS An inverse relationship was observed between SV/PP and pulmonary vascular resistance, the mean resistance-compliance product (RC-time) being 0.30 ± 0.2 seconds. In patients with pulmonary capillary wedge pressure < 15 mmHg the mean RC-time was 0.34 ± 0.14 sec and in patients with pulmonary capillary wedge pressure ≥ 15 mmHg it was 0.28 ± 0.22 sec. Eighty-seven patients died in a follow-up period of 50 ± 32 months. At receiver operating characteristic curve analysis, the optimal prognostic cut-off point of SV/PP was 2.15 ml/mmHg. An elevated (>2.15) SV/PP was more strongly associated with survival than any other hemodynamic variable; it was associated with poor prognosis both in patients with high (p=0.003) and in patients with normal pulmonary vascular resistance (p=0.005). CONCLUSIONS Pulmonary arterial compliance is a strong prognostic indicator in CHF patients with sLVD; most importantly, its prognostic role is retained in patients with normal pulmonary vascular resistance.JOURNAL ARTICLESCOPUS: ar.jinfo:eu-repo/semantics/publishe