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71.
Tommaso Sanna Antonio Dello Russo Daniela Toniolo Michal Vytopil Gemma Pelargonio Giuseppe De Martino Enzo Ricci Gabriella Silvestri Vincenzo Giglio Loredana Messano Elisabetta Zachara Fulvio Bellocci 《European heart journal》2003,24(24):2227-2236
AIMS: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selected on the basis of a phenotype characterized by dilated cardiomyopathy, atrioventricular conduction disturbances and sudden death. However, the features of cardiac abnormalities in patients with an initial diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) are poorly known. Aim of the present study was to investigate the spectrum of cardiac disease in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene. METHODS AND RESULTS: Ten consecutive patients with EDMD and a LMNA gene mutation were evaluated with structured medical interview, physical examination, ECG, echocardiogram and 24-h Holter monitoring. Electrophysiological testing and cardiac catheterization were performed if a class 1 or 2 American Heart Association guidelines indication was present. Cardiac disease was found in eight of 10 patients and consisted in the variable combination of supraventricular arrhythmias, disorders of atrioventricular conduction, ventricular arrhythmias, dilated cardiomyopathy, non-dilated cardiomyopathy, restrictive cardiomyopathy and sudden death despite pacemaker implant. CONCLUSIONS: Cardiac disease is common in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene and consists of arrhythmias, disorders of atrioventricular conduction, cardiomyopathies and sudden death despite pacemaker implant. 相似文献
72.
Serkan Sahin Hasan Alacam Koray Karabekiroglu Gokce Nur Say Osman Salıs 《International journal of psychiatry in clinical practice》2014,18(4):280-287
Objectives. We aimed to explore whether the use of methylphenidate relates leptin, ghrelin, adiponectin, and brain-derived neurotrophic factor (BDNF). In addition, the relationship between methylphenidate-related weight loss in attention deficit hyperactivity disorder (ADHD) patients and these biomolecules were evaluated. Methods. Thirty ADHD patients receiving methylphenidate and 20 healthy controls were included. Leptin, ghrelin, adiponectin, and BDNF levels were measured at baseline and after two-month treatment in both groups. Results. At baseline, leptin, ghrelin, adiponectin, and BDNF levels were similar in the ADHD and control groups. The most common adverse events occurring in the ADHD group after a 2-month treatment period included loss of appetite (70%) and weight loss (66.7%). A significant difference was found in body weight, BMI, and CGI scores of the ADHD patients after the treatment. While post-treatment ghrelin and adiponectin levels were significantly higher in the ADHD group, BDNF level was significantly lower. Post-treatment decrease in leptin levels was not significant. Conclusions. Leptin and BDNF were not associated with poor appetite and/or weight loss due to methylphenidate treatment. However, ghrelin and adiponectin might be biomolecules that play a role in underlying neurobiological mechanisms of methylphenidate-related appetite or weight loss. 相似文献
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Annunziata Dattola Martina Silvestri Luigi Bennardo Maria Passante Francesco Rizzuto Stefano Dastoli Cataldo Patruno Luca Bianchi Steven Paul Nistic 《Dermatologic therapy》2020,33(1)
This study evaluates the effectiveness of the topical use of an aerosol foam combination of calcipotriol 50 μg/g plus betamethasone dipropionate 0.5 mg/g (Cal/BD foam, Enstilar®) in adults with moderate plaque psoriasis. A total of 120 male and female adult psoriasis patients (53.3% male) from two Italian dermatological units were enrolled in an 8‐week prospective study performed between November 2018 and January 2019. Psoriasis Area and Severity Index (PASI) was evaluated at baseline (T0) and 4 weeks (T4) of daily application, and a further evaluation was carried out 4 weeks after suspension (T8). Furthermore, the Dermatology Life Quality Index (DLQI) was evaluated at baseline and after 4 weeks of treatment (T4). At baseline, patients presented a mean PASI of 7 (7.0 ± 2.1). After 4 weeks (T4) of once‐daily application, an important improvement in PASI was observed (1.1 ± 0.3). At Week 4, DLQI was reduced by 5.5 points from baseline (mean: 12 ± 3.1 at T0 vs 6.5 ± 1.8 at T4). Four weeks after suspension (T8), mean PASI was 2.6 ± 1.9, which was stable compared to the previous evaluation; only 8.3% of the treated patients showed worsening of plaque psoriasis. This study suggested that the Cal/BD aerosol foam is an effective topical therapy to treat plaque psoriasis. 相似文献
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Manuela Moretto Erica Silvestri Andrea Zangrossi Maurizio Corbetta Alessandra Bertoldo 《Human brain mapping》2022,43(3):1129
During normal aging, the brain undergoes structural and functional changes. Many studies applied static functional connectivity (FC) analysis on resting state functional magnetic resonance imaging (rs‐fMRI) data showing a link between aging and the increase of between‐networks connectivity. However, it has been demonstrated that FC is not static but varies over time. By employing the dynamic data‐driven approach of Hidden Markov Models, this study aims to investigate how aging is related to specific characteristics of dynamic brain states. Rs‐fMRI data of 88 subjects, equally distributed in young and old were analyzed. The best model resulted to be with six states, which we characterized not only in terms of FC and mean BOLD activation, but also uncertainty of the estimates. We found two states were mostly occupied by young subjects, whereas three other states by old subjects. A graph‐based analysis revealed a decrease in strength with the increase of age, and an overall more integrated topology of states occupied by old subjects. Indeed, while young subjects tend to cycle in a loop of states characterized by a high segregation of the networks, old subjects'' loops feature high integration, with a crucial intermediary role played by the dorsal attention network. These results suggest that the employed mathematical approach captures the complex and rich brain''s dynamics underpinning the aging process. 相似文献
78.
Giuseppe de Vito Lapo Turrini Caroline Müllenbroich Pietro Ricci Giuseppe Sancataldo Giacomo Mazzamuto Natascia Tiso Leonardo Sacconi Duccio Fanelli Ludovico Silvestri Francesco Vanzi Francesco Saverio Pavone 《Biomedical optics express》2022,13(3):1516
Light-sheet fluorescence microscopy (LSFM) enables real-time whole-brain functional imaging in zebrafish larvae. Conventional one-photon LSFM can however induce undesirable visual stimulation due to the use of visible excitation light. The use of two-photon (2P) excitation, employing near-infrared invisible light, provides unbiased investigation of neuronal circuit dynamics. However, due to the low efficiency of the 2P absorption process, the imaging speed of this technique is typically limited by the signal-to-noise-ratio. Here, we describe a 2P LSFM setup designed for non-invasive imaging that enables quintuplicating state-of-the-art volumetric acquisition rate of the larval zebrafish brain (5 Hz) while keeping low the laser intensity on the specimen. We applied our system to the study of pharmacologically-induced acute seizures, characterizing the spatial-temporal dynamics of pathological activity and describing for the first time the appearance of caudo-rostral ictal waves (CRIWs). 相似文献
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