Institution
Catholic University of the Sacred Heart
Education•Milan, Lombardia, Italy•
About: Catholic University of the Sacred Heart is a education organization based out in Milan, Lombardia, Italy. It is known for research contribution in the topics: Population & Health care. The organization has 13592 authors who have published 31048 publications receiving 853961 citations.
Topics: Population, Health care, Cancer, Myocardial infarction, Transplantation
Papers published on a yearly basis
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TL;DR: This document is intended to provide a revised version of earlier guidelines published in 2006, and is likely to be modified in the future to reflect the changing needs of the rapidly changing environment.
Abstract: Objectives: To provide a revised version of earlier guidelines published in 2006. Background: Primary dystonias are chronic and often disabling conditions with a widespread spectrum mainly in young people. Diagnosis: Primary dystonias are classified as pure dystonia, dystonia plus or paroxysmal dystonia syndromes. Assessment should be performed using a validated rating scale for dystonia. Genetic testing may be performed after establishing the clinical diagnosis. DYT1 testing is recommended for patients with primary dystonia with limb onset before age 30, and in those with an affected relative with early-onset dystonia. DYT6 testing is recommended in early-onset or familial cases with craniocervical dystonia or after exclusion of DYT1. Individuals with early-onset myoclonus should be tested for mutations in the DYT11 gene. If direct sequencing of the DYT11 gene is negative, additional gene dosage is required to improve the proportion of mutations detected. A levodopa trial is warranted in every patient with early-onset primary dystonia without an alternative diagnosis. In patients with idiopathic dystonia, neurophysiological tests can help with describing the pathophysiological mechanisms underlying the disorder. Treatment: Botulinum toxin (BoNT) type A is the first-line treatment for primary cranial (excluding oromandibular) or cervical dystonia; it is also effective on writing dystonia. BoNT/B is not inferior to BoNT/A in cervical dystonia. Pallidal deep brain stimulation (DBS) is considered a good option, particularly for primary generalized or cervical dystonia, after medication or BoNT have failed. DBS is less effective in secondary dystonia. This treatment requires a specialized expertise and a multidisciplinary team.
345 citations
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TL;DR: It is demonstrated that ablation using endo-epicardial homogenization of the scar significantly increases freedom from VAs in ischemic cardiomyopathy patients.
345 citations
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TL;DR: Evidence of the relationship between alcohol use and suicide through a search of MedLine and PsychInfo electronic databases is reviewed and multiple genetically-related intermediate phenotypes might influence the relationshipBetween alcohol and suicide.
Abstract: Suicide is an escalating public health problem, and alcohol use has consistently been implicated in the precipitation of suicidal behavior. Alcohol abuse may lead to suicidality through disinhibition, impulsiveness and impaired judgment, but it may also be used as a means to ease the distress associated with committing an act of suicide. We reviewed evidence of the relationship between alcohol use and suicide through a search of MedLine and PsychInfo electronic databases. Multiple genetically-related intermediate phenotypes might influence the relationship between alcohol and suicide. Psychiatric disorders, including psychosis, mood disorders and anxiety disorders, as well as susceptibility to stress, might increase the risk of suicidal behavior, but may also have reciprocal influences with alcohol drinking patterns. Increased suicide risk may be heralded by social withdrawal, breakdown of social bonds, and social marginalization, which are common outcomes of untreated alcohol abuse and dependence. People with alcohol dependence or depression should be screened for other psychiatric symptoms and for suicidality. Programs for suicide prevention must take into account drinking habits and should reinforce healthy behavioral patterns.
344 citations
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Istituto Superiore di Sanità1, Lawrence Berkeley National Laboratory2, United States Department of Energy3, Icahn School of Medicine at Mount Sinai4, Casa Sollievo della Sofferenza5, Sapienza University of Rome6, Catholic University of the Sacred Heart7, University of Zurich8, University of Turin9, University of Siena10, University of Padua11, University of Erlangen-Nuremberg12
TL;DR: It is shown that aberrantly acquired N-myristoylation of SHOC2, a leucine-rich repeat–containing protein that positively modulates RAS-MAPK signal flow, underlies a clinically distinctive condition of the neuro-cardio-facial-cutaneous disorders family.
Abstract: N-myristoylation is a common form of co-translational protein fatty acylation resulting from the attachment of myristate to a required N-terminal glycine residue. We show that aberrantly acquired N-myristoylation of SHOC2, a leucine-rich repeat-containing protein that positively modulates RAS-MAPK signal flow, underlies a clinically distinctive condition of the neuro-cardio-facial-cutaneous disorders family. Twenty-five subjects with a relatively consistent phenotype previously termed Noonan-like syndrome with loose anagen hair (MIM607721) shared the 4A>G missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation. Expression of SHOC2(S2G) in vitro enhanced MAPK activation in a cell type-specific fashion. Induction of SHOC2(S2G) in Caenorhabditis elegans engendered protruding vulva, a neomorphic phenotype previously associated with aberrant signaling. These results document the first example of an acquired N-terminal lipid modification of a protein causing human disease.
344 citations
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TL;DR: The chromosome Y STRs seem to be very useful in comparing closely related populations which cannot probably be separated by e.g. autosomal STRs, but in order to be used in an evolutionary context they need to be combined with more stable Y-polymorphisms e.
Abstract: By means of a multicenter study, a large number of males have been characterized for Y-chromosome specific short tandem repeats (STRs) or microsatellites. A complete summary of the allele frequency distributions for these Y-STRs is presented in the Appendix. This manuscript describes in more detail some of the population genetic and evolutionary aspects for a restricted set of seven chromosome Y STRs in a selected number of population samples. For all the chromosome Y STRs markedly different region-specific allele frequency distributions were observed, also when closely related populations were compared. Haplotype analyses using AMOVA showed that when four different European male groups (Germans, Dutch, Swiss, Italians) were compared, less than 10% of the total genetic variability was due to differences between these populations. Nevertheless, these pairwise comparisons revealed significant differences between most population pairs. Assuming a step-wise mutation model and a mutation frequency of 0.21%, it was estimated that chromosome Y STR-based evolutionary lines of descent can be reliably inferred over a time-span of only 1950 generations (or about 49000 years). This reduces the reliability of the inference of population affinities to a historical, rather than evolutionary time scale. This is best illustrated by the construction of a human evolutionary tree based on chromosome Y STRs in which most of the branches connect in a markedly different way compared with trees based on classical protein polymorphisms and/or mtDNA sequence variation. Thus, the chromosome Y STRs seem to be very useful in comparing closely related populations which cannot probably be separated by e.g. autosomal STRs. However, in order to be used in an evolutionary context they need to be combined with more stable Y-polymorphisms e.g. base-substitutions.
344 citations
Authors
Showing all 13795 results
Name | H-index | Papers | Citations |
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Peter J. Barnes | 194 | 1530 | 166618 |
Cornelia M. van Duijn | 183 | 1030 | 146009 |
Dennis R. Burton | 164 | 683 | 90959 |
Paolo Boffetta | 148 | 1455 | 93876 |
Massimo Antonelli | 130 | 1272 | 79319 |
David B. Audretsch | 126 | 671 | 72456 |
Piero Anversa | 115 | 412 | 60220 |
Marco Pahor | 112 | 476 | 46549 |
David L. Paterson | 111 | 739 | 68485 |
Alfonso Caramazza | 108 | 451 | 39280 |
Anthony A. Amato | 105 | 911 | 57881 |
Stefano Pileri | 100 | 635 | 43369 |
Giovanni Gasbarrini | 98 | 894 | 36395 |
Giampaolo Merlini | 96 | 684 | 40324 |
Silvio Donato | 96 | 860 | 41166 |