Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Background: Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament-associated disease is unresolved.

Objectives: This study aimed to assess clinical features and outcomes in a large cohort of patients with HCM associated with thin-filament mutations compared with thick-filament HCM.

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

Background: Screening in subjects with left ventricular hypertrophy (LVH) reveals a high prevalence of Fabry disease (FD). Often, a diagnosis is uncertain because characteristic clinical features are absent and genetic variants of unknown significance (GVUS) in the α-galactosidase A (GLA) gene are identified. This carries a risk of misdiagnosis, inappropriate counselling and extremely expensive treatment.

Preliminary evaluation of urinary soluble Met as a biomarker for urothelial carcinoma of the bladder.

Background: Among genitourinary malignancies, bladder cancer (BCa) ranks second in both prevalence and cause of death. Biomarkers of BCa for diagnosis, prognosis and disease surveillance could potentially help prevent progression, improve survival rates and reduce health care costs. Among several oncogenic signaling pathways implicated in BCa progression is that of hepatocyte growth factor (HGF) and its cell surface receptor, Met, now targeted by 25 experimental anti-cancer agents in human clinical trials.

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

Background: Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), in which a considerable proportion of patients remain undiagnosed after Sanger. In this study, we present an Italian family with atypical HCM in which a novel disease-causing variant in α-actinin 2 (ACTN2) was identified by next-generation sequencing.

Methods And Results: A large family spanning 4 generations was examined, exhibiting an autosomal dominant cardiomyopathic trait comprising a variable spectrum of (1) midapical HCM with restrictive evolution with marked biatrial dilatation, (2) early-onset atrial fibrillation and atrioventricular block, and (3) left ventricular noncompaction.

Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden death in the young, although not all patients eligible for sudden death prevention with an implantable cardioverter-defibrillator are identified. Contrast-enhanced cardiovascular magnetic resonance with late gadolinium enhancement (LGE) has emerged as an in vivo marker of myocardial fibrosis, although its role in stratifying sudden death risk in subgroups of HCM patients remains incompletely understood.

Methods And Results: We assessed the relation between LGE and cardiovascular outcomes in 1293 HCM patients referred for cardiovascular magnetic resonance and followed up for a median of 3.

Genetic variability of Lizard canary breed inferred from pedigree analysis.

The genealogical data of 471 (whole population: WP) Lizard canaries of an Italian breeder were analyzed to evaluate the genetic variability of the breed. The reference population (RP) comprised 346 living reproductive birds. Average generation interval was 1.

Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy.

End-stage hypertrophic cardiomyopathy (ES-HC) has an ominous prognosis. Whether genotype can influence ES-HC occurrence is unresolved. We assessed the spectrum and clinical correlates of HC-associated mutations in a large multicenter cohort with end-stage ES-HC.

Absolute quantitation of Met using mass spectrometry for clinical application: assay precision, stability, and correlation with MET gene amplification in FFPE tumor tissue.

Background: Overexpression of Met tyrosine kinase receptor is associated with poor prognosis. Overexpression, and particularly MET amplification, are predictive of response to Met-specific therapy in preclinical models. Immunohistochemistry (IHC) of formalin-fixed paraffin-embedded (FFPE) tissues is currently used to select for 'high Met' expressing tumors for Met inhibitor trials.

Treatment of waste activated sludge together with agro-waste by anaerobic digestion: focus on effluent quality.

Waste activated sludge production and management plays an important role in wastewater treatment plants (WWTPs), especially from an economic point of view. One possible approach is the anaerobic co-digestion of waste activated sludge with others organic substrates in mesophilic and thermophilic conditions in order to exploit the spare volume of existing reactors, recover energy from biogas production, and obtain a fertilizer as final product. The anaerobic trials were carried out at pilot scale, applying two organic loading rates (2.

Anaerobic co-digestion of winery waste and waste activated sludge: assessment of process feasibility.

In this study the anaerobic co-digestion of wine lees together with waste activated sludge in mesophilic and thermophilic conditions was tested at pilot scale. Three organic loading rates (OLRs 2.8, 3.

Predictors of response to exercise therapy for chronic low back pain: result of a prospective study with one year follow-up.

Background: Low back pain (LBP) management is a critical public health issue in all developed countries. Most approaches show evidence of effects only in the short term.

Aim: To identify predictors of functional outcome on discharge and at 1 year.

A modular sensorized mat for monitoring infant posture.

We present a novel sensorized mat for monitoring infant's posture through the measure of pressure maps. The pressure-sensitive mat is based on an optoelectronic technology developed in the last few years at Scuola Superiore Sant'Anna: a soft silicone skin cover, which constitutes the mat, participates in the transduction principle and provides the mat with compliance. The device has a modular structure (with a minimum of one and a maximum of six sub-modules, and a total surface area of about 1 m2) that enables dimensional adaptation of the pressure-sensitive area to different specific applications.

An active one-lobe pulmonary simulator with compliance control for medical training in neonatal mechanical ventilation.

Mechanical ventilation is a current support therapy for newborns affected by respiratory diseases. However, several side effects have been observed after treatment, making it mandatory for physicians to determine more suitable approaches. High fidelity simulation is an efficient educational technique that recreates clinical experience.

Analysis of a dielectric EAP as smart component for a neonatal respiratory simulator.

Nowadays, respiratory syndrome represents the most common neonatal pathology. Nevertheless, being respiratory assistance in newborns a great challenge for neonatologists and nurses, use of simulation-based training is quickly becoming a valid meaning of clinical education for an optimal therapy outcome. Commercially available simulators, are, however, not able to represent complex breathing patterns and to evaluate specific alterations.

MEchatronic REspiratory System SImulator for Neonatal Applications (MERESSINA) project: a novel bioengineering goal.

Respiratory function is mandatory for extrauterine life, but is sometimes impaired in newborns due to prematurity, congenital malformations, or acquired pathologies. Mechanical ventilation is standard care, but long-term complications, such as bronchopulmonary dysplasia, are still largely reported. Therefore, continuous medical education is mandatory to correctly manage devices for assistance.

Localized salt-dependent aquagenic urticaria: a subtype of aquagenic urticaria?

Aquagenic urticaria is a rare form of inducible urticaria characterized by wealing at the site of contact of the skin with water, regardless of its temperature, within minutes of exposure. We describe six young women who reported urticarial rashes, triggered mostly by sea bathing, characteristically localized on the inferior facial contours and neck. In four of the six patients, this was the only localization.

Prognostic value of N-terminal pro-brain natriuretic Peptide in outpatients with hypertrophic cardiomyopathy.

In hypertrophic cardiomyopathy, the plasma levels of N-terminal pro-brain natriuretic peptide (NT-proBNP) correlate with functional capacity. However, their prognostic relevance remains unresolved. We followed up 183 stable outpatients with hypertrophic cardiomyopathy (age 50 ± 17 years, 64% men) for 3.

Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease.

Aims: Male patients with Anderson-Fabry disease (AFD) often exhibit cardiac involvement, characterized by LV hypertrophy (LVH), associated with severe coronary microvascular dysfunction (CMD). Whether CMD is present in patients without LVH, particularly when female, remains unresolved. The aim of the study was to investigate the presence of CMD by positron emission tomography (PET) in AFD patients of both genders, with and without evidence of LVH.

Higher uric acid levels are associated with better functional recovery in elderly patients receiving cardiac rehabilitation.

Background And Aims: Whether uric acid (UA) serves as risk factor for cardiovascular diseases or as antioxidant defense has not yet been completely clarified. In this study we investigated the effects of UA on functional recovery in patients receiving cardiac rehabilitation.

Methods And Results: 306 patients, 209 men and 97 women, age range 25-87 years (mean 68 ± 11), performed the 6-min walk test (6mWT) before and after the rehabilitation, and the increase in walking distance was considered as the outcome measure of the study.

Obesity and its association to phenotype and clinical course in hypertrophic cardiomyopathy.

Objectives: This study sought to assess the impact of body mass index (BMI) on cardiac phenotypic and clinical course in a multicenter hypertrophic cardiomyopathy (HCM) cohort.

Background: It is unresolved whether clinical variables promoting left ventricular (LV) hypertrophy in the general population, such as obesity, may influence cardiac phenotypic and clinical course in patients with HCM.

Methods: In 275 adult HCM patients (age 48 ± 14 years; 70% male), we assessed the relation of BMI to LV mass, determined by cardiovascular magnetic resonance (CMR) and heart failure progression.

Design and development of a sensorized wireless toy for measuring infants' manual actions.

The development of grasping is an important milestone that infants encounter during the first months of life. Novel approaches for measuring infants' manual actions are based on sensorized platform usable in natural settings, such as instrumented wireless toys that could be exploited for diagnosis and rehabilitation purposes. A new sensorized wireless toy has been designed and developed with embedded pressure sensors and audio-visual feedback.

Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.

Cardiac myosin binding protein-C (cMyBP-C) is a multi-domain (C0-C10) protein that regulates heart muscle contraction through interaction with myosin, actin and other sarcomeric proteins. Several mutations of this protein cause familial hypertrophic cardiomyopathy (HCM). Domain C1 of cMyBP-C plays a central role in protein interactions with actin and myosin.