423 results match your criteria: "University of Rome "La Sapienza" Medical School[Affiliation]"

Transcranial magnetic stimulation (TMS) can interfere with cognitive processes, such as transiently impairing memory. As part of a multi-center European project, we investigated the adaptability and reproducibility of a previously published TMS memory interfering protocol in two centers using EEG or fMRI scenarios. Participants were invited to attend three experimental sessions on different days, with sham repetitive TMS (rTMS) applied on day 1 and real rTMS on days 2 and 3.

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Objective: To evaluate the ability of the BioFire FilmArray Blood Culture Identification (BCID) panel to rapidly detect pathogens producing late-onset ventilator-associated pneumonia (VAP), a severe infection often produced by Gram-negative bacteria. These microorganisms are frequently multidrug resistant and typically require broad-spectrum empiric treatment.

Methods: In the context of an international multicentre clinical trial (MagicBullet), respiratory samples were collected at the time of suspicion of VAP from 165 patients in 32 participating hospitals in Spain, Greece and Italy.

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Alternatives to the Swan-Ganz catheter.

Intensive Care Med

June 2018

Department of Intensive Care, Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium.

While the pulmonary artery catheter (PAC) is still interesting in specific situations, there are many alternatives. A group of experts from different backgrounds discusses their respective interests and limitations of the various techniques and related measured variables. The goal of this review is to highlight the conditions in which the alternative devices will suffice and when they will not or when these alternative techniques can provide information not available with PAC.

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Background: Acute appendicitis (AA) is the most common surgical disease, and appendectomy is the treatment of choice in the majority of cases. A correct diagnosis is key for decreasing the negative appendectomy rate. The management can become difficult in case of complicated appendicitis.

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The Health Care Transition of Youth With Liver Disease Into the Adult Health System: Position Paper From ESPGHAN and EASL.

J Pediatr Gastroenterol Nutr

June 2018

Department of Paediatrics, Center for Liver, Digestive, and Metabolic Diseases, University of Groningen, University Medical Center, Groningen, The Netherlands.

Background: Medical advances have dramatically improved the long-term prognosis of children and adolescents with once-fatal hepatobiliary diseases. However, there is no generally accepted optimal pathway of care for the transition from paediatric care to the adult health system.

Aim: The purpose of this position paper is to propose a transition process for young people with paediatric onset hepatobiliary diseases from child-centred to adult-centred healthcare services.

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The Precision Neurology development process implements systems theory with system biology and neurophysiology in a parallel, bidirectional research path: a combined hypothesis-driven investigation of systems dysfunction within distinct molecular, cellular, and large-scale neural network systems in both animal models as well as through tests for the usefulness of these candidate dynamic systems biomarkers in different diseases and subgroups at different stages of pathophysiological progression. This translational research path is paralleled by an "omics"-based, hypothesis-free, exploratory research pathway, which will collect multimodal data from progressing asymptomatic, preclinical, and clinical neurodegenerative disease (ND) populations, within the wide continuous biological and clinical spectrum of ND, applying high-throughput and high-content technologies combined with powerful computational and statistical modeling tools, aimed at identifying novel dysfunctional systems and predictive marker signatures associated with ND. The goals are to identify common biological denominators or differentiating classifiers across the continuum of ND during detectable stages of pathophysiological progression, characterize systems-based intermediate endophenotypes, validate multi-modal novel diagnostic systems biomarkers, and advance clinical intervention trial designs by utilizing systems-based intermediate endophenotypes and candidate surrogate markers.

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Diabetes is an established risk factor for pancreatic cancer (PaC), together with obesity, a Western diet, and tobacco smoking. The common mechanistic link might be the accumulation of advanced glycation end-products (AGEs), which characterizes all of the above disease conditions and unhealthy habits. Surprisingly, however, the role of AGEs in PaC has not been examined yet, despite the evidence of a tumour-promoting role of receptor for advanced glycation end-products (RAGE), the receptor for AGEs.

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Background And Aims: To systematically review the latest evidence on established and emerging nutrition-related risk factors for incidence of and mortality from total, ischemic and haemorrhagic strokes. The present review was conducted in the framework of the work carried out through 2015 and 2016 for the preparation of the Italian Guidelines for the Prevention and Treatment of Stroke, 8th Edition, by ISO-SPREAD (Italian Stroke Organization and the Stroke Prevention and Educational Awareness Diffusion).

Methods And Results: Systematic review of articles focused on primary prevention of stroke published between January 2013 to May 2016 through an extensive search of the literature using MEDLINE/PUBMED, EMBASE and the Cochrane Library.

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Objective: This study tested the hypothesis that markers of functional cortical source connectivity of resting state eyes-closed electroencephalographic (rsEEG) rhythms may be abnormal in subjects with mild cognitive impairment due to Alzheimer's (ADMCI) and Parkinson's (PDMCI) diseases compared to healthy elderly subjects (Nold).

Methods: rsEEG data had been collected in ADMCI, PDMCI, and Nold subjects (N = 75 for any group). eLORETA freeware estimated functional lagged linear connectivity (LLC) from rsEEG cortical sources.

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The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database.

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Objective: Galectin-3 is constitutively expressed in bone cells and was recently shown to modulate osteogenic transdifferentiation of vascular smooth muscle cells and atherosclerotic calcification. However, the role of galectin-3 in bone physiology is largely undefined. To address this issue, we analyzed (1) the skeletal features of 1-, 3- and 6-month-old galectin-3 null (Lgals3) and wild type (WT) mice and (2) the differentiation and function of osteoblasts and osteoclasts derived from these animals.

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Elucidating the biology of yeast in its full complexity has major implications for science, medicine and industry. One of the most critical processes determining yeast life and physiology is cel-lular demise. However, the investigation of yeast cell death is a relatively young field, and a widely accepted set of concepts and terms is still missing.

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med

September 2018

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

Purpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.

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Assessing the risk of laparoscopic morcellation of occult uterine sarcomas during hysterectomy and myomectomy: Literature review and the ISGE recommendations.

Eur J Obstet Gynecol Reprod Biol

January 2018

Department of Obstetrics & Gynecology, Nova Medical School - Faculdade de Ciências Médicas, Nova University of Lisbon, Lisbon, Portugal; Department of Obstetrics & Gynecology, Hospital S. Francisco Xavier -- CHLO, Lisbon, Portugal. Electronic address:

Objective: This project of the International Society for Gynecologic Endoscopy (ISGE) had the objective to review the literature and provide recommendations on the occult sarcoma risk assessment in patients who are candidates for minimally invasive gynecological surgery involving intra-abdominal electromechanical tissue morcellation.

Study Design: The ISGE Task Force for Estimation of the Risk in Endoscopic Morcellation initially defined key topics and clinical questions which may guide a comprehensive preoperative patient assessment. A literature search within the Medline/PubMed and Cochrane Database was carried out using keywords "morcellation", "uterine fibroids", "uterine sarcoma", "myomectomy" and "hysterectomy".

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Reduced-Intensity Delayed Intensification in Standard-Risk Pediatric Acute Lymphoblastic Leukemia Defined by Undetectable Minimal Residual Disease: Results of an International Randomized Trial (AIEOP-BFM ALL 2000).

J Clin Oncol

January 2018

Martin Schrappe, Kirsten Bleckmann, Anja Möricke, and Gunnar Cario, University Hospital Schleswig-Holstein, Campus Kiel, Kiel; Martin Zimmermann and Gudrun Göhring, Hannover Medical School, Hannover; Claus R. Bartram, Institute of Human Genetics, Ruprecht-Karls University, Heidelberg; Charlotte Niemeyer, University of Freiburg, Freiburg; Rita Beier, University Hospital, Essen; Wolf-Dieter Ludwig, HELIOS Medical Center Berlin-Buch, Berlin; Paul-Gerhardt Schlegel, University of Würzburg, Würzburg, Germany; Andrea Biondi, Carmelo Rizzari, Maria Grazia Valsecchi, and Valentino Conter, University of Milano-Bicocca; Andrea Biondi, Carmelo Rizzari, and Valentino Conter, Ospedale San Gerardo, Monza; Franco Locatelli, University of Pavia and Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù; Anna Maria Testi, University La Sapienza, Rome; Elena Barisone, Regina Margherita Children's Hospital, Turin; Ottavio Ziino, Azienda di Rilievo Nazionale ad Alta Specializzazione Ospedali Civico Di Cristina, Palermo; Rosanna Parasole, Santobono-Pausilipon Children's Hospital; Fiorina Casale, University of Naples, Naples; Giuseppe Basso, University of Padova, Padova, Italy; Andishe Attarbaschi, Georg Mann, and Renate Panzer-Grümayer, St Anna Children's Hospital and Medical University of Vienna, Vienna, Austria; and Felix Niggli and Beat Schäfer, University Hospital Zürich, Zürich, Switzerland.

Purpose Delayed intensification (DI) is an integral part of treatment of childhood acute lymphoblastic leukemia (ALL), but it is associated with relevant toxicity. Therefore, standard-risk patients of trial AIEOP-BFM ALL 2000 (Combination Chemotherapy Based on Risk of Relapse in Treating Young Patients With ALL) were investigated with the specific aim to reduce treatment intensity. Patients and Methods Between July 2000 and July 2006, 1,164 patients (1 to 17 years of age) with standard-risk ALL (defined as the absence of high-risk cytogenetics and undetectable minimal residual disease on days 33 and 78) were randomly assigned to either experimental reduced-intensity DI (protocol III; P-III) or standard DI (protocol II; P-II).

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Am J Hum Genet

November 2017

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

Article Synopsis
  • Developmental and epileptic encephalopathy (DEE) combines epilepsy and intellectual disability, often leading to developmental stagnation or decline, with unknown causes in most cases.
  • Researchers conducted whole-genome sequencing on 197 DEE patients and their healthy parents to identify new genetic mutations linked to the condition.
  • They established a molecular diagnosis for 32% of the individuals, finding that de novo point mutations were the primary cause, suggesting a unique genetic profile for DEE compared to intellectual disability without epilepsy.
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Nat Genet

December 2017

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10 with ten variants at nine new loci.

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A proportion of pulmonary arterial hypertension (PAH) patients do not reach treatment goals with phosphodiesterase-5 inhibitors (PDE5i). RESPITE investigated the safety, feasibility and benefit of switching from PDE5i to riociguat in these patients.RESPITE was a 24-week, open-label, multicentre, uncontrolled study.

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Mapping and predicting mortality from systemic sclerosis.

Ann Rheum Dis

November 2017

Rheumatology A department, Paris Descartes University, INSERM U1016, Sorbonne Paris Cité, Cochin Hospital, Paris, France.

Objectives: To determine the causes of death and risk factors in systemic sclerosis (SSc).

Methods: Between 2000 and 2011, we examined the death certificates of all French patients with SSc to determine causes of death. Then we examined causes of death and developed a score associated with all-cause mortality from the international European Scleroderma Trials and Research (EUSTAR) database.

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We describe regional differences in therapy for bloodstream infection (BSI) caused by extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL-E) or carbapenemase-producing Enterobacteriaceae (CPE). Patients (n = 1482) in 12 countries from an observational study of BSI caused by ESBL-E or CPE were included. Multivariate logistic regression was used to calculate adjusted odds ratios (aORs) for the influence of country of recruitment on empirical use of β-lactam/β-lactamase inhibitors (BLBLIs) or carbapenems, targeted use of BLBLIs for ESBL-E and use of targeted combination therapy for CPE.

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The integration of medical imaging technologies into diagnostic and therapeutic approaches can provide a preoperative insight into both anatomical (e.g. using computed tomography, magnetic resonance imaging, or ultrasound), as well as functional aspects (e.

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Deoxynivalenol Biomarkers in the Urine of UK Vegetarians.

Toxins (Basel)

June 2017

Department of Academic Diabetes, Endocrinology and Metabolism, Brocklehurst Building, Hull Royal Infirmary, Anlaby Road, Hull HU3 2RW, UK.

Deoxynivalenol (DON) is produced by and is one of the most commonly occurring trichothecenes. Vegetarians are alleged to be a high-risk group for DON exposure due to high intakes of cereals susceptible to the growth of the mycotoxin. This study provides the levels of DON and de-epoxi Deoxynivalenol (DOM-1) in urine analysed by liquid chromatography-mass spectrometry (LC-MS) in UK vegetarians.

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Article Synopsis
  • This study explored differences in brain activity patterns between patients with Alzheimer's disease (ADMCI), Parkinson's disease (PDMCI), and healthy elderly individuals using resting state electroencephalography (rsEEG).
  • Researchers found that the source activities of certain brain wave frequencies (alpha and delta) were significantly different in the ADMCI and PDMCI groups compared to healthy subjects, indicating distinct neural synchronization abnormalities.
  • The findings suggest that these brain wave patterns could potentially help in diagnosing and understanding cognitive impairments, and future studies are needed to validate their clinical usefulness.
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Recent literature data have given emphasis to the relationship between gastrointestinal (GI) disorders and neurologic diseases, underlying a new pathogenic pathway: The so-called "gut-brain axis." Herein, authors report a case of a 10-month-old male infant, admitted for drug-resistant epilepsy, associated with irritable behavior and GI discomfort, secondary to cow's milk protein allergy. Seizures were described by parents as upward eye movements that were mostly deviated to the right and were associated with slight extension of his neck.

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The aim of the present study was to evaluate the performance of whole-body diffusion-weighted imaging (WB-DWI), whole-body positron emission tomography with computed tomography (WB-PET/CT), and whole-body positron emission tomography with magnetic resonance imaging (WB-PET/MRI) in staging patients with untreated invasive ductal carcinoma of the breast. Fifty-one women with newly diagnosed invasive ductal carcinoma of the breast underwent WB-DWI, WB-PET/CT and WB-PET/MRI before treatment. A radiologist and a nuclear medicine physician reviewed in consensus the images from the three modalities and searched for occurrence, number and location of metastases.

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