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The scientific community is continuously working to translate the novel biomedical techniques into effective medical treatments. CRISPR-Cas9 system (Clustered Regularly Interspaced Short Palindromic Repeats-9), commonly known as the “molecular scissor”, represents a recently developed biotechnology able to improve the quality and the efficacy of traditional treatments, related to several human diseases, such as chronic diseases, neurodegenerative pathologies and, interestingly, oral diseases. Of course, dental medicine has notably increased the use of biotechnologies to ensure modern and conservative approaches: in this landscape, the use of CRISPR-Cas9 system may speed and personalize the traditional therapies, ensuring a good predictability of clinical results. The aim of this critical overview is to provide evidence on CRISPR efficacy, taking into specific account its applications in oral medicine.

Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocytosis, we aimed to explore whether expanded polyQ ATXN3 impacts retinal function and integrity in SCA3 patients and transgenic mice. We evaluated the retinal structure and function in five patients with SCA3 and in a transgenic mouse model of this disease (YACMJD84.2, Q84) using optical coherence tomography (OCT) and electroretinogram (ERG). In the transgenic mice, we further: a) determined the retinal expression pattern of ATXN3 and the distribution of cones and rods using immunofluorescence (IF); and b) assessed the retinal ultrastructure using transmission electron microscopy (TEM). Some patients with SCA3 in our cohort revealed: i) reduced central macular thickness indirectly correlated with disease duration; ii) decreased thickness of the macula and the ganglion cell layer, and reduced macula volume inversely correlated with disease severity (SARA score); and iii) electrophysiological dysfunction of cones, rods, and inner retinal cells. Transgenic mice replicated the human OCT and ERG findings with aged homozygous Q84/Q84 mice showing a stronger phenotype accompanied by further thinning of the outer nuclear layer and photoreceptor layer and highly reduced cone and rod activities, thus supporting severe retinal dysfunction in these mice. In addition, Q84 mice showed progressive accumulation of ATXN3-positive aggregates throughout several retinal layers and depletion of cones alongside the disease course. TEM analysis of aged Q84/Q84 mouse retinas supported the ATXN3 aggregation findings by revealing the presence of high number of negative electron dense puncta in ganglion cells, inner plexiform and inner nuclear layers, and showed further thinning of the outer plexiform layer, thickening of the retinal pigment epithelium and elongation of apical microvilli. Our results indicate that retinal alterations detected by non-invasive eye examination using OCT and ERG could represent a biological marker of disease progression and severity in patients with SCA3.

A woman complaining of dyspnea and chest pain since childhood, was referred to our hospital with an initial diagnosis of biventricular hypertrophic cardiomyopathy. Multimodality imaging evaluation revealed massive right ventricular (RV) hypertrophy and severe RV outflow tract obstruction, with a final diagnosis of double chambered RV associated with small ventricular septal defect with right-to-left shunt and right partial anomalous pulmonary vein return. This represents an uncommon combination of congenital abnormalities, extremely rarely diagnosed in adulthood.

Weather and the susceptibility of children to severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection is still a debated question and currently a hot topic, particularly in view of important decisions regarding opening schools. Therefore, we performed this prospective analysis of anti‐SARS‐CoV‐2 immunoglobulin G (IgG) antibodies in children with known household exposure to SARS‐CoV‐2 and compared their IgG status with the other adults exposed to the index case in the same household. A total of 30 families with a documented COVID‐19 index case were included. A total of 44 out of 80 household contacts (55%) of index patients had anti SARS‐CoV‐2 IgG antibodies. In particular, 16/27 (59,3%) adult partners had IgG antibodies compared with 28/53 (52,3%) of pediatric contacts (p > .05). Among the pediatric population, children ≥5 years of age had a similar probability of having SARS‐CoV‐2 IgG antibodies (21/39, 53.8%) compared to those less than 5 years old (7/14, 50%) (p > .05). Adult partners and children also had a similar probability of having SARS‐CoV‐2 IgG antibodies. Interestingly, 10/28 (35.7%) of children and 5/27 (18.5%) of adults with SARS‐CoV‐2 IgG antibodies were previously diagnosed as COVID‐19 cases. Our study shows evidence of a high rate of IgG antibodies in children exposed to SARS‐CoV‐2. This report has public health implications, highlighting the need to establish appropriate guidelines for school openings and other social activities related to childhood.

Cardiac magnetic resonance (CMR) is considered a primary tool for the diagnosis of acute myocarditis, due to its unique potential for non-invasive identification of the various hallmarks of the inflammatory response, with relevant impact on patient management and prognosis. Nonetheless, a marked variation in sensitivity and negative predictive value has been reported in the literature, reflecting the intrinsic drawbacks of current diagnostic criteria, which are based mainly on the use of conventional CMR pulse sequences. As a consequence, a negative exam cannot reliably exclude the diagnosis, especially in patients who do not present an infarct-like onset of disease. The introduction of new-generation mapping techniques further widened CMR potentials, allowing quantification of tissue changes and opening new avenues for non-invasive workup of patients with inflammatory myocardial disease. • CMR sensitivity varies in AM, reflecting its clinical polymorphism and the intrinsic drawbacks of LLc. • Semiquantitative approaches such as EGEr or T2 ratio have limited accuracy in diffuse disease forms. • T1 mapping allows objective quantification of inflammation, with no need to normalize measurements. • A revised protocol including T2-STIR, T1 mapping and LGE could be hypothesized to improve sensitivity.

Los suelos de la provincia de Santa Fe presentan diversos estados de compactación, que varían segúnel tipo de suelo y el sistema de manejo aplicado. En este capítulo se presentan las causas genéticas yantrópicas de compactación más comunes con ejemplos zonales. Luego se abordan diversos trabajosrealizados para recuperar la calidad física de los suelos en sistemas agrícolas y ganaderos. Por últimose presentan dos trabajos realizados en los suelos más productivos de toda la provincia de Santa Feque describen los cambios ocurridos en diversas propiedades físicas a través de indicadores, a saber:porosidad total, macroporosidad, capacidad de aeración, índice de inestabilidad, índice de compresión,presión de preconsolidación, densidad crítica para el crecimiento de las plantas. Fil: Imhoff, Silvia del Carmen. Universidad Nacional del Litoral; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Pilatti, M.. Universidad Nacional del Litoral; Argentina Fil: Carrizo, Maria Eugenia. Universidad Nacional del Litoral; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Masola, María Josefina. Universidad Nacional del Litoral. Facultad de Cs.agrarias. Departamento de Ciencias del Ambiente; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Marano, R.. Universidad Nacional del Litoral; Argentina Fil: Felli, O.. Universidad Nacional del Litoral; Argentina

Objectives Forty sites were involved in this multicenter and multivendor registry, which sought to evaluate indications, spectrum of protocols, impact on clinical decision making and safety profile of cardiac magnetic resonance (CMR). Materials and methods Data were prospectively collected on a 6-month period and included 3376 patients (47.2 ± 19 years; range 1–92 years). Recruited centers were asked to complete a preliminary general report followed by a single form/patient. Referral physicians were not required to exhibit any specific certificate of competency in CMR imaging. Results Exams were performed with 1.5 T scanners in 96% of cases followed by 3 T (3%) and 1 T (1%) magnets and contrast was administered in 84% of cases. The majority of cases were performed for the workup of inflammatory heart disease/cardiomyopathies representing overall 55.7% of exams followed by the assessment of myocardial viability and acute infarction (respectively 6.9% and 5.9% of patients). In 49% of cases the final diagnosis provided was considered relevant and with impact on patient's clinical/therapeutic management. Safety evaluation revealed 30 (0.88%) clinical events, most of which due to patient's preexisting conditions. Radiological reporting was recorded in 73% of exams. Conclusions CMR is performed in a large number of centers in Italy with relevant impact on clinical decision making and high safety profile.

Cardiac magnetic resonance (CMR) is considered an useful method in the evaluation of many cardiac disorders. Based on our experience and available literature, we wrote a document as a guiding tool in the clinical use of CMR. Synthetically we describe different cardiac disorders and express for each one a classification, I to IV, depending on the significance of diagnostic information expected. © 2012 Springer-Verlag Italia.

"\"La tomografia computerizzata del cuore (CCT) è diventata uno strumento efficace in differenti contesti clinici. Lo sviluppo della tecnologia ha portato ad una progressiva espansione delle indicazioni con una concomitante riduzione della dose di radiazioni necessaria per l’esecuzione dell’indagine. Ancora oggi sono pochi i documenti delle maggiori società scientifiche internazionali che si esprimono sulle effettive modalità di utilizzo e sulle indicazioni cliniche della CCT; in particolare mancano delle linee guida complete. Questo documento rispecchia la visione del gruppo di lavoro della Sezione di Cardio-Radiologia della Società Italiana di Radiologia Medica in merito alle indicazioni correnti della CCT.\"" "\"Cardiac computed tomography (CCT) has grown as a useful means in different clinical contexts. Technological development has progressively extended the indications for CCT while reducing the required radiation dose. Even today there is little documentation from the main international scientific societies describing the proper use and clinical indications of CCT; in particular, there are no complete guidelines. This document reflects the position of the Working Group of the Cardiac Radiology Section of the Italian Society of Radiology concerning the indications for CCT.\""

Purpose. To survey the management of patients with neovascular age-related macular degeneration (nvAMD) in Spain. Methods. An observational retrospective multicenter study was conducted. The variables analyzed were sociodemographic characteristics, foveal and macular thickness, visual acuity (VA), type of treatment, number of injections, and the initial administration of a loading dose of an antiangiogenic drug. Results. 208 patients were followed up during 23.4 months in average. During the first and second years, patients received a mean of 4.5 +/- 1.8 and 1.6 +/- 2.1 injections of antiangiogenic drugs, and 5.4 +/- 2.8 and 3.6 +/- 2.2 follow-up visits were performed, respectively. The highest improvement in VA was observed at 3 months of follow-up, followed by a decrease in the response that stabilized above baseline values until the end of the study. Patients who received an initial loading dose presented greater VA gains than those without. Conclusions. Our results suggest the need for a more standardized approach in the management and diagnosis of nvAMD receiving VEGF inhibitors. To achieve the visual outcomes reported in pivotal trials, an early diagnosis, proactive approach (more treating than follow-up visits), and a close monitoring might be the key to successfully manage nvAMD.

Purpose. To review the proposed pathogenic mechanisms of age macular degeneration (AMD), as well as the role of antioxidants (AOX) and omega-3 fatty acids (omega-3) supplements in AMD prevention. Materials and Methods. Current knowledge on the cellular/molecular mechanisms of AMD and the epidemiologic/experimental studies on the effects of AOX and omega-3 were addressed all together with the scientific evidence and the personal opinion of professionals involved in the Retina Group of the OFTARED (Spain). Results. High dietary intakes of omega-3 and macular pigments lutein/zeaxanthin are associated with lower risk of prevalence and incidence in AMD. The Age-Related Eye Disease study (AREDS) showed a beneficial effect of high doses of vitamins C, E, beta-carotene, and zinc/copper in reducing the rate of progression to advanced AMD in patients with intermediate AMD or with one-sided late AMD. The AREDS-2 study has shown that lutein and zeaxanthin may substitute beta-carotene because of its potential relationship with increased lung cancer incidence. Conclusion. Research has proved that elder people with poor diets, especially with low AOX and omega-3 micronutrients intake and subsequently having low plasmatic levels, are more prone to developing AMD. Micronutrient supplementation enhances antioxidant defense and healthy eyes and might prevent/retard/modify AMD.

Using data from the PRIAMO study, we investigated non-motor symptoms (NMS) versus frontal lobe dysfunction in patients with idiopathic Parkinson disease (PD); 808 patients with PD and 118 with atypical parkinsonisms (AP) were consecutively enrolled at 55 Centers in Italy. Twelve categories of NMS were investigated. Cognitive impairment was defined as a Mini-Mental Status Evaluation score ≤ 23.8 and frontal lobe dysfunction as a Frontal Assessment Battery (FAB) score ≤ 3.48. Multivariable logistic regression was used to identify predictor of frontal lobe dysfunction in 524 PD patients, and a generalized linear model was used for each of the six FAB items. Not only the total FAB scores but also the single FAB items were lower in AP versus PD (p ≤ 0.005). Age (OR = 1.05), cognitive impairment (OR = 9.54), lack of cardiovascular symptoms (OR = 3.25), attention or memory problems (OR = 0.59) and treatment with L: -DOPA (OR = 5.58) were predictors of frontal lobe dysfunction. MMSE was negatively associated with all FAB items (β ≤ -0.16) and age with all FAB items but prehension behavior (β ≤ -0.01). Previous use of L: -DOPA was negatively associated with verbal fluency (β = -0.32) possibly acting as surrogate marker of disease duration. Cognitive impairment is a predictor of frontal lobe dysfunction. Among NMS, lack of attention or memory problems were negatively associated with frontal impairment. Further studies are nonetheless needed to better identify the predictors of frontal impairment in PD patients.

The PRIAMO study is a cross-sectional longitudinal observational study aimed at describing epidemiology and evolution of non-motor symptoms (NMS) in patients with different forms of parkinsonism recruited in 55 Italian centres and evaluated over 24 months. In this paper, we are reporting prevalence and clinical characteristics of NMS in patients with atypical and secondary parkinsonism. Out of 1307 consecutive patients with a diagnosis of parkinsonism, 83 patients had vascular parkinsonism (VP), 34 had multiple system atrophy (MSA), 30 had progressive supranuclear palsy (PSP), 14 had dementia with Lewy bodies (DLB) and 11 had corticobasal degeneration (CBD). MSA and DLB had the highest number of NMS domains and symptoms, respectively. Gastrointestinal symptoms, pain, urinary problems and postural instability due to orthostatic hypotension were most frequent in MSA. Sleep disturbances were also common with a prevalence of approximately 70% in all diagnostic groups but CBD (36%). Psychiatric symptoms and attention and memory impairment were frequently observed in all diagnoses but were most prevalent among DLB patients, whereas the prevalence of skin and respiratory disorders was rather low in all forms, ranging between 10 and 30%. Atypical parkinsonism patients also reported a low QoL, with no significant differences among the different forms, whereas PD and VP patients had a better QoL.

To assess the psychometric properties of the Italian version of the Snaith-Hamilton Pleasure Scale (SHAPS) and to study the relationship between anhedonia, depression and cognitive impairment in patients with Parkinson's disease (PD).The SHAPS (14 items) was translated into Italian and pre-tested in a pilot study. Two items evaluating physical anhedonia related to sexual issues were added. The Italian version of SHAPS was validated in 274 consecutive PD patients, divided into patients with major depression according to DSM-IV criteria (dPD) and patients without depression (nPD), and in healthy subjects. To test the feasibility of the instrument and to determine whether clinical data affect anhedonia, we also administered SHAPS to 1307 patients with different types of parkinsonism.The Italian SHAPS proved to be easy to understand as regards the question and answer modes. Intraclass coefficient for test-retest reliability was 0.65 for the total score. KR index was 0.61. ANOVA of the SHAPS total score revealed that scores were higher in dPD patients than in healthy controls and nPD (p0.05). In the 1307 patients with various types of parkinsonism, the SHAPS data showed that anhedonia was related to age, type of parkinsonism, apathy, depression and cognitive impairment. Anhedonia was correlated with frontal dysfunctions in supranuclear palsy and PD patients (r=-0.682 and -0.264 respectively, p0.05).The Italian version of the SHAPS is a reliable tool with which to assess anhedonia in patients with PD and other forms of parkinsonism.

Objetivo: La Epiteliopatía Pigmentaria Placoide Posterior Multifocal Aguda (EPPPMA) es una enfermedad infrecuente que afecta a individuos jóvenes y de probable etiología inflamatoria. El objetivo del estudio es analizar las principales características clínicoepidemiológicas de esta enfermedad en una serie de pacientes. Métodos: Se presenta un estudio retrospectivo de 16 pacientes diagnosticados de EPPPMA. Se han estudiado sus características demográficas (edad, sexo) y clínicas: evolución de la agudeza visual y del cuadro retiniano, enfermedades sistémicas asociadas y respuesta al tratamiento. Se han recogido datos angiográficos, autofluoresecencia y tomografía de coherencia óptica (OCT) en algunos pacientes. Resultados: La edad media en nuestra serie es de 26,75 años sin preferencias por el sexo. La media de agudeza visual final en nuestra serie ha sido de 0,73. Cuatro pacientes presentaron enfermedad sistémica asociada a la EPPPMA. 11 pacientes recibieron tratamiento con corticoesteroides (un paciente corticoesteroides e inmunosupresores) y cinco no recibieron tratamiento. Conclusiones: En nuestra serie la edad media se encuentra por debajo de los 30 años y no hubo diferencias en cuanto al sexo, siendo estos resultados congruentes con lo descrito en la literatura. El pronóstico visual es bueno independientemente del tratamiento, aunque hay casos de mal pronóstico visual, especialmente aquellos con afectación foveal precoz. Objective: Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) is a rare disease with a probable inflammatory component which mostly affects young patients. The aim of our study was to analyse the demographic and clinical features of this disease in a group of 16 patients. Methods: Sixteen patients with APMPPE were included in this study. We analyzed their demographic data (age, sex) and the most relevant clinical findings: visual acuity and retinal disease outcome, association with other systemic diseases and response to treatment. We also collected data from fluorescence angiography, autofluorescence and optical coherence tomography (OCT) in some of the patients. Results: Average age at diagnosis was 26.75 years with no sex predilection. Average final visual acuity (Snellen Scale) in our study was 0.73. Four patients presented with a systemic disease related to the APMPPE. Eleven patients were treated with oral steroids (one patient with steroids and cytotoxic agents) while the remaining 5 patients received no treatment. Conclusions: In our patients, the average age at diagnosis was less than 30 years, with no sex predilection, as previously described by many authors. The visual outcome is usually good regardless of the treatment given, although there are cases with a bad visual outcome, especially those with foveal involvement when initially seen.

PURPOSE: To evaluate the diagnostic accuracy of 16-row multislice spiral computed tomography coronary angiography (16-MSCT-CA) for the non-invasive assessment of significant coronary artery stenosis. MATERIALS AND METHODS: We enrolled 40 patients (36 male, aged 59+/-11 yrs) with suspected obstructive coronary artery disease and a heart rate 2 mm in diameter were evaluated by two independent observers for the presence of significant coronary artery stenosis (= or >50%). Consensus reading was compared to quantitative coronary angiography. RESULTS: The average heart rate was 55+/-6 bpm. Of the 428 segments of = or >2.0 mm diameter 92 were significantly diseased. Without exclusion of any branches (428), the sensitivity, specificity, positive, and negative predictive values to identify = or >50% obstructed segments were 95.7% (88/92), 95.8% (322/336), 86.3% (88/102), and 98.8% (322/326), respectively. No occluded left main, left anterior descending, circumflex or right coronary artery segments remained undetected. CONCLUSIONS: 16-MSCT-CA in a selected low-heart-rate patient population provides high diagnostic accuracy in the evaluation of significant coronary artery stenosis.

In patients with myocarditis, early diagnosis and appropriate therapy are mandatory, as well as close clinical follow-up with particular regard to progression of disease and ventricular arrhythmia recurrences. The management of ventricular arrhythmias should follow current guidelines for ICD implantation, but new therapeutic options could be evaluated in these patients, such as combined epicardial/endocardial ablation and external wearable defibrillator. Particularly, depressed left ventricular ejection fraction (LVEF) represents the only risk marker for sudden cardiac death currently used in myocarditis, although the use of a single risk factor has limited utility. On this regard, combined analysis of myocardial tissue structure by cardiac magnetic resonance (CMR) and endomyocardial biopsy, in association with resting cardiac systolic function, could improve predictive accuracy for SCD in patients with myocarditis.

Neuropsychologic studies on Parkinson's disease have shown an impairment of specific cognitive functions and a greater evidence of dementia. Cognitive alterations are related to the gravity of some peculiar motor symptoms of the disease and show a major role of motor disturbances in intellectual disorders. The concept of bradyphrenia and subcortical dementia still seems to be suitable to define the cognitive disorders of Parkinson's disease.

Non-invasive cardiovascular imaging owns a pivotal role in the preoperative assessment of patient candidates for transcatheter aortic valve implantation (TAVI), providing a wide range of crucial information to select the patients who will benefit the most and have the procedure done safely. This document has been developed by a joined group of experts of the Italian Society of Cardiology and the Italian Society of Medical and Interventional Radiology and aims to produce an updated consensus statement about the pre-procedural imaging assessment in candidate patients for TAVI intervention. The writing committee consisted of members and experts of both societies who worked jointly to develop a more integrated approach in the field of cardiac and vascular radiology. Part 2 of the document will cover CT and MR angiography, standard medical reporting, and future perspectives.