Studio nel myocardial work in pazienti con stenosi aortica severa sottoposti ad impianto transcatetere di valvola aortica

Il Myocardial work è recentemente emerso come nuova metodica che esplora la performance miocardica del VS, in maniera indipendente dal carico emodinamico. Obiettivo dello studio è stato valutare il Myocardial work come marker ecocardiografico precoce di reverse remodeling del VS ad un mese dalla TAVI ed il suo eventuale valore prognostico. In particolare un valore di MWE <= 92% post procedura è stato correlato significativamente con eventi clinici

Noli Me Tangere: Social Touch, Tactile Defensiveness, and Communication in Neurodevelopmental Disorders

Abstract: Tactile defensiveness is a common feature in neurodevelopmental disorders (NDDs). Since the first studies, tactile defensiveness has been described as the result of an abnormal response to sensory stimulation. Moreover, it has been studied how the tactile system is closely linked to socio-communicative development and how the interoceptive sensory system supports both a discriminating touch and an aective touch. Therefore, several neurophysiological studies have been conducted to investigate the neurobiological basis of the development and functioning of the tactile system for a better understanding of the tactile defensiveness behavior and the social touch of NDDs. Given the lack of recent literature on tactile defensiveness, the current study provides a brief overview of the original contributions on this research topic in children with NDDs focusing attention on how this behavior has been considered over the years in the clinical setting

The Palermo Capuchin Catacombs Project: a multidisciplinary approach to the study of a modern Mummy Collection (ca 1600-1900)

In this paper we present a multidisciplinary project for the study of the present conditions, history, bioanthropological features and conservation status of a large collection of modern human mummies, kept in the Capuchin Catacombs of Palermo (Sicily, Italy). Due to the large amount of spontaneously and anthropogenically mummified human bodies, and to an abundant presence of associated artefacts, this collection provides a unique opportunity to carry out a large multidisciplinary survey useful for a thorough biocultural understanding of these remains, a conservation plan, and testing of new restoration protocols

Faces and Identities: is it possible measuring the reliability of the 3D craniofacial approximations

The craniofacial approximation (CFA) is largely used in forensic identification of unknown skeletonized bodies. Despite numerous forensic reports have proved successful in identifying a cadaver, it is very hard to assess the reliability of CFA methods. The present work aims to evaluate the accuracy of CFAs through the comparison of a blind facial approximation with a simultaneous faces array test. The blind CFA was made following the Manchester’s protocol. In our test the CFA was compared with a photographic array of ten faces, included the photo of the individual whom belonged the skull. The positive recognition was evaluated by a total of 320 unfamiliar assessors. During the test a survey was also conducted to evaluate which facial feature mostly drive the process of identification. The true positive recognition showed extremely poor results. Only the 5% of assessors match the CFA with the target individual photo. The nose was judged the most influential facial feature, but it is also the most problematic anatomical district to approximate due to the lack of strong relationships with the bony part of the skull. Our results seem to highlight clear limits in positive recognition for CFA based techniques. However, we should consider that positive recognitions of CFAs are usually made by someone in social proximity with the victim. This latter evidence strongly bias any face array test with unfamiliar assessors, keeping the question of CFA reliability still open

Atorvastatin combined to interferon to verify the efficacy (ACTIVE) in relapsing-remitting active multiple sclerosis patients: a longitudinal controlled trial of combination therapy.

A large body of evidence suggests that, besides their cholesterol-lowering effect, statins exert anti-inflammatory action. Consequently, statins may have therapeutic potential in immune-mediated disorders such as multiple sclerosis. Our objectives were to determine safety, tolerability and efficacy of low-dose atorvastatin plus high-dose interferon beta-1a in multiple sclerosis patients responding poorly to interferon beta-1a alone. Relapsing–remitting multiple sclerosis patients, aged 18–50 years, with contrast-enhanced lesions or relapses while on therapy with interferon beta-1a 44 mg (three times weekly) for 12 months, were randomized to combination therapy (interferon+atorvastatin 20mg per day; group A) or interferon alone (group B) for 24 months. Patients underwent blood analysis and clinical assessment with the Expanded Disability Status Scale every 3 months, and brain gadolinium-enhanced magnetic resonance imaging at screening, and 12 and 24 months thereafter. Primary outcome measure was contrast-enhanced lesion number. Secondary outcome measures were number of relapses, EDSS variation and safety laboratory data. Forty-five patients were randomized to group A (n 1⁄4 21) or B (n 1⁄4 24). At 24 months, group A had significantly fewer contrast-enhanced lesions versus baseline (p 1⁄4 0.007) and significantly fewer relapses versus the two pre-randomization years (p < 0.001). At survival analysis, the risk for a 1-point EDSS increase was slightly higher in group B than in group A (p 1⁄4 0.053). Low-dose atorvastatin may be beneficial, as add-on therapy, in poor responders to high-dose interferon beta-1a alone

Parental Stress and Parental Ratings of Behavioral Problems of Enuretic Children

Background: Primary monosymptomatic nocturnal enuresis (PMNE) may have a stressful impact on the everyday life of children and parents, and it may represent a cumulative stress factor increasing feelings of “learned helplessness.” Methods: The current study investigated parental stress in a group of parents (n = 330) of children affected by PMNE, compared to a group of parents (n = 330) of typical developing children (TDC). In addition, the study evaluated whether parents of PMNE children experience more emotional, social, and behavioral problems in their children, compared to parents of TDC. Finally, the study correlated frequency of enuresis with stress values and Child Behavior Checklist (CBCL) subscales and total stress with CBCL. Both groups were given The Parental Stress Inventory-Short Form (PSI-SF) and the Child Behavior Checklist (CBCL). Results: Parents of PMNE children showed significantly higher stress level than parents of TDC. Nocturnal enuresis, as a demanding clinical condition difficult to control, represents a relevant stress factor. Mothers appeared as more vulnerable to stress than fathers. Parents of PMNE children reported higher behavioral and emotional problems, compared to reports of parents of TDC. PMNE children appeared to their parents as having lower competency in social activities, school performance, and social relationships than TDC. Moreover, they were rated as more withdrawn, anxious-depressed,more aggressive, inattentive, and withmore somatic complaints than healthy children. It was always the mother who rated a significantly higher number of emotional, social, and behavioral problems compared to fathers. Correlational analysis showed that the higher the frequency of enuresis, the greater the parental stress level, the lower the social activities, school performance and relational competencies and the higher the emotional, social and behavioral problems in children, according to the parents’ evaluations. The greater the parental stress level, the lower the competencies rated and the higher the behavioral problems detected by parents

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in children. Incidence is higher in East Asia, where the heterozygous p.Arg4810Lys variant in RNF213 (Mysterin) represents the major susceptibility factor. Rare variants in RNF213 have also been found in European MMA patients with incomplete penetrance and are today a recognized susceptibility factor for other cardiovascular disorders, from extracerebral artery stenosis to hypertension. By whole exome sequencing, we identified three rare and previously unreported missense variants of RNF213 in three children with early onset of bilateral MMA, and subsequently extended clinical and radiological investigations to their carrier relatives. Substitutions all involved highly conserved residues clustered in the C-terminal region of RNF213, mainly in the E3 ligase domain. Probands showed a de novo occurring variant, p.Phe4120Leu (family A), a maternally inherited heterozygous variant, p.Ser4118Cys (family B), and a novel heterozygous variant, p.Glu4867Lys, inherited from the mother, in whom it occurred de novo (family C). Patients from families A and C experienced transient hypertransaminasemia and stenosis of extracerebral arteries. Bilateral MMA was present in the proband's carrier grandfather from family B. The proband from family C and her carrier mother both exhibited annular figurate erythema. Our data confirm that rare heterozygous variants in RNF213 cause MMA in Europeans as well as in East Asian populations, suggesting that substitutions close to positions 4118-4122 and 4867 of RNF213 could lead to a syndromic form of MMA showing elevated aminotransferases and extracerebral vascular involvement, with the possible association of peculiar skin manifestations

Assessment of neuroactive steroids in cerebrospinal fluid comparing acute relapse and stable disease in relapsing-remitting multiple sclerosis

Previous studies have reported an involvement of neuroactive steroids as neuroprotective and anti-inflammatory agents in neurological disorders such as multiple sclerosis (MS); an analysis of their profile during a specific clinical phase of MS is largely unknown. The pregnenolone (PREG), dehydroepiandrosterone (DHEA), and allopregnanolone (ALLO) profile was evaluated in cerebrospinal fluid (CSF) in relapsing-remitting multiple sclerosis (RR-MS) patients as well as those in patients affected by non-inflammatory neurological (control group I) and without neurological disorders (control group II). An increase of PREG and DHEA values was shown in CSF of male and female RR-MS patients compared to those observed in both control groups. The ALLO values were significantly lower in female RR-MS patients than those found in male RR-MS patients and in female without neurological disorder. During the clinical relapse, we observed female RR-MS patients showing significantly increased PREG values compared to female RR-MS patients in stable phase, while their ALLO values showed a significant decrease compared to male RR-MS patients of the same group. Male RR-MS patients with gadolinium-enhanced lesions showed PREG and DHEA values higher than those found in female RR-MS patients with gadolinium-enhanced lesions. Similary, male RR-MS patients with gadolinium-enhanced lesions showed PREG and DHEA values higher than male without gadolinium-enhanced lesions. Female RR-MS patients with gadolinium-enhanced lesions showed DHEA values higher than those found in female RR-MS patients with gadolinium-enhanced lesions. Male and female RR-MS patients with gadolinium-enhanced lesions showed ALLO values higher than those found in respective gender groups without gadolinium-enhanced lesions. ALLO values were lower in male than in female RR-MS patients without gadolinium-enhanced lesions. Considering the pharmacological properties of neuroactive steroids and the observation that neurological disorders influence their concentrations, these endogenous compounds may have an important role as prognostic factors of the disease and used as markers of MS activity such as relapses

The kinectome: A comprehensive kinematic map of human motion in health and disease

Human voluntary movement stems from the coordinated activations in space and time of many musculoskeletal segments. However, the current methodological approaches to study human movement are still limited to the evaluation of the synergies among a few body elements. Network science can be a useful approach to describe movement as a whole and to extract features that are relevant to understanding both its complex physiology and the pathophysiology of movement disorders. Here, we propose to represent human movement as a network (that we named the kinectome), where nodes represent body points, and edges are defined as the correlations of the accelerations between each pair of them. We applied this framework to healthy individuals and patients with Parkinson’s disease, observing that the patients’ kinectomes display less symmetrical patterns as compared to healthy controls. Furthermore, we used the kinectomes to successfully identify both healthy and diseased subjects using short gait recordings. Finally, we highlighted topological features that predict the individual clinical impairment in patients. Our results define a novel approach to study human movement. While deceptively simple, this approach is well-grounded, and represents a powerful tool that may be applied to a wide spectrum of framework

Clinical correlates of R1 relaxometry and magnetic susceptibility changes in multiple sclerosis: a multi-parameter quantitative MRI study of brain iron and myelin

Objectives: The clinical impact of brain microstructural abnormalities in multiple sclerosis (MS) remains elusive. We aimed to characterize the topography of longitudinal relaxation rate (R1) and quantitative susceptibility (χ) changes, as indices of iron and myelin, together with brain atrophy, and to clarify their contribution to cognitive and motor disability in MS. Methods: In this cross-sectional study, voxel-based morphometry, and voxel-based quantification analyses of R1 and χ maps were conducted in gray matter (GM) and white matter (WM) of 117 MS patients and 53 healthy controls. Voxel-wise between-group differences were assessed with nonparametric permutation tests, while correlations between MRI metrics and clinical variables (global disability, cognitive and motor performance) were assessed both globally and voxel-wise within clusters emerging from the between-group comparisons. Results: MS patients showed widespread R1 decrease associated with more limited modifications of χ, with atrophy mainly involving deep GM, posterior and infratentorial regions (p < 0.02). While R1 and χ showed a parallel reduction in several WM tracts (p < 0.001), reduced GM R1 values (p < 0.001) were associated with decreased thalamic χ (p < 0.001) and small clusters of increased χ in the caudate nucleus and prefrontal cortex (p < 0.02). In addition to the atrophy, χ values in the cingulum and corona radiata correlated with global disability and motor performance, while focal demyelination correlated with cognitive performance (p < 0.04). Conclusions: We confirmed the presence of widespread R1 changes, involving both GM and WM, and atrophy in MS, with less extensive modifications of tissue χ. While atrophy and χ changes are related to global and motor disability, R1 changes are meaningful correlates of cognition. Key points: • Compared to healthy controls, multiple sclerosis patients showed R1 and χ changes suggestive of iron increase within the basal ganglia and reduced iron and myelin content within (subnuclei of) the thalamus. • Thalamic volume and χ changes significantly predicted clinical disability, as well as pulvinar R1 and χ changes, independently from atrophy. • Atrophy-independent R1 and χ changes, suggestive of thalamic iron and myelin depletion, may represent a sensitive marker of subclinical inflammation