Patient's informed choice: skills and tools to prevent defensive medicine

L’aumento esponenziale del contenzioso medico-legale – originatosi negli USA negli anni Sessanta in proporzioni tali da far parlare di medical liability crisis, e sviluppatosi in Italia a partire dalla metà degli anni Ottanta – ha comportato e continua a comportare, unitamente ad altre conseguenze negative, il ricorso sempre più frequente dei sanitari alle pratiche di medicina difensiva, con elevatissimi costi a carico del Servizio Sanitario Nazionale dovuti alla sovrabbondanza di trattamenti e ricoveri inutili e di procedure diagnostiche invasive non necessarie, peraltro produttive di stress emotivo nei pazienti. La causa dell’aumento della litigiosità deve essere ricercata in buona parte nella relazione medico-paziente, in particolar modo con riferimento al momento informativo che precede l’acquisizione del consenso informato al trattamento clinico. In Italia, i limiti che per lo più caratterizzano gli studi riguardanti il consenso informato derivano principalmente dal fatto che essi tendono a focalizzarsi unicamente sulla componente scritta del medesimo. Il fulcro del consenso informato, invece, deve ritenersi rappresentato da una comunicazione tra sanitario e paziente relativa ad un trattamento proposto ed alle possibili alternative, alla non sottoposizione ad alcun trattamento e ai rischi e benefici di ciascuna di queste opzioni. In un tale contesto il tema della comunicazione tra il professionista e la persona assistita sta suscitando interesse poiché ci si aspetta che esso conduca a miglioramenti degli outcome dei pazienti e alla diminuzione delle denunce da parte di questi ultimi per casi di responsabilità sanitaria. La maggiore attenzione al rapporto medico - paziente ha fatto emergere il bisogno di migliorare e potenziare le abilità comunicative dei medici, in un’ottica in cui il momento comunicativo possa essere percepito dal professionista come fulcro del rapporto medico-paziente, nella prospettiva di una elaborazione di strategie di prevenzione e contrasto ai fenomeni di medicina difensiva.The exponential increase of medico-legal claims - originated in the USA in the sixties in such proportions as to talk of medical liability crisis, and developed in Italy since the mid-eighties - has led and continues to lead, together with other negative consequences, to the more frequent use of health care practices of defensive medicine, with very high costs to the NHS due to the overabundance of unnecessary treatments and hospitalizations, and worthless invasive diagnostic procedures, which generate emotional distress in patients. The cause of the increase in litigation is to be found largely in the doctor-patient relationship, especially with reference to the information that precedes the acquisition of the informed consent for clinical treatment. In Italy, the limits which mostly characterize the studies regarding informed consent derive mainly from the fact that they tend to focus solely on the written component of the same. The focus of informed consent, however, must be considered represented by a communication between healthcare and patient concerning a proposed treatment and its possible alternatives, to not subjecting the patient to any treatment, and the risks and benefits of each of these options. In such a context, the issue of communication between the physician and the patient is attracting interest because it is expected that it will lead to improvements in patient outcomes and to fewer malpractice claims. The increased attention to the doctor - patient relationship has highlighted the need to improve and enhance the communication skills of doctors, in a perspective in which the time dedicated to communication can be perceived by the professional as the core of the doctor-patient relationship, with a view to developing strategies to prevent the phenomena of defensive medicine

Alterações eletrocardiográficas e cardiovasculares em pacientes com infarto do miocárdio pregresso submetidos a programa de reabilitação cardíaca supervisionado

A reabilitação cardíaca é o processo de desenvolvimento e manutenção de nível desejável de atividade física, social e psicológica após o início da doença coronária sintomática, sendo uma terapêutica multiprofissional para a patologia, que é multifatorial. Assim, nas últimas décadas, a prática de exercícios físicos tem sido estimulada entre indivíduos sadios e cardiopatas. Os principais objetivos são: evitar os efeitos negativos do repouso prolongado no leito em pacientes convalescentes de infarto agudo do miocárdio pós-cirurgia cardiovascular, com o retorno mais breve às atividades cotidianas, evitar complicações pulmonares, melhora da capacidade funcional e da qualidade de vida, mudanças de hábitos com modificação de fatores de risco e redução dos índices de morbi-mortalidade

No evidence of SARS-CoV-2 in hospitalized patients with severe acute respiratory syndrome in five Italian hospitals from 1st November 2019 to 29th February 2020

Background On 9th January 2020, China CDC reported a novel coronavirus (later named SARS-CoV-2) as the causative agent of the coronavirus disease 2019 (COVID-19). Identifying the first appearance of virus is of epidemiological importance to tracking and mapping the spread of SARS-CoV-2 in a country. We therefore conducted a retrospective observational study to detect SARS-CoV-2 in oropharyngeal samples collected from hospitalized patients with a Severe Acute Respiratory Infection (SARI) enrolled in the DRIVE (Development of Robust and Innovative Vaccine Effectiveness) study in five Italian hospitals (CIRI-IT BIVE hospitals network) (1st November 2019 – 29th February 2020). Objectives To acquire new information on the real trend in SARS-CoV-2 infection during pandemic phase I and to determine the possible early appearance of the virus in Italy. Materials and methods Samples were tested for influenza [RT-PCR assay (A/H1N1, A/H3N2, B/Yam, B/Vic)] in accordance with the DRIVE study protocol. Subsequently, swabs underwent molecular testing for SARS-COV-2. [one-step real-time multiplex retro-transcription (RT) PCR]. Results In the 1683 samples collected, no evidence of SARS-CoV-2 was found. Moreover, 28.3% (477/1683) of swabs were positive for influenza viruses, the majority being type A (358 vs 119 type B). A/H3N2 was predominant among influenza A viruses (55%); among influenza B viruses, B/Victoria was prevalent. The highest influenza incidence rate was reported in patients aged 0–17 years (40.3%) followed by those aged 18–64 years (24.4%) and ≥65 years (14.8%). Conclusions In Italy, some studies have shown the early circulation of SARS-CoV-2 in northern regions, those most severely affected during phase I of the pandemic. In central and southern regions, by contrast no early circulation of the virus was registered. These results are in line with ours. These findings highlight the need to continue to carry out retrospective studies, in order to understand the epidemiology of the novel coronavirus, to better identify the clinical characteristics of COVID-19 in comparison with other acute respiratory illnesses (ARI), and to evaluate the real burden of COVID-19 on the healthcare system

Brazilian consensus on guidelines for diagnosis and treatment for restless legs syndrome

The Consensus on restless legs syndrome is an effort of neurologists from several Brazilian states, which tirelessly reviewed the literature of recent years in search of evidence, both in regard to diagnosis and treatment, according to the Oxford Centre for Evidence-based Medicine.Serv Neurol & Neurocirurgia, Passo Fundo, RS, BrazilUniv São Paulo, Fac Med Ribeirao Preto, BR-14049 Ribeirao Preto, SP, BrazilClin Carlos Bacelar, Rio de Janeiro, RJ, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilHosp Moinhos Vento, BR-90560030 Porto Alegre, RS, BrazilUniversidade Federal de São Paulo, Dept Neurol, São Paulo, BrazilHosp Israelita Albert Einstein, São Paulo, BrazilUniv Fed Alagoas, Fac Med, Maceio, AL, BrazilUniv Fed Pernambuco, Recife, PE, BrazilClin Rio Sono, Rio de Janeiro, RJ, BrazilUniv São Paulo, Fac Med, Hosp Clin, São Paulo, BrazilPontificia Univ Catolica Rio Grande do Sul, Porto Alegre, RS, BrazilUniv Brasilia, Fac Med, Brasilia, DF, BrazilHosp Clin Porto Alegre, Porto Alegre, RS, BrazilProSSono Ctr Med Sono, Ribeirao Preto, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol, São Paulo, BrazilWeb of Scienc

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

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.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

Report from Working Group 3: Beyond the standard model physics at the HL-LHC and HE-LHC

This is the third out of five chapters of the final report [1] of the Workshop on Physics at HL-LHC, and perspectives on HE-LHC [2]. It is devoted to the study of the potential, in the search for Beyond the Standard Model (BSM) physics, of the High Luminosity (HL) phase of the LHC, defined as $3$ ab$^{-1}$ of data taken at a centre-of-mass energy of 14 TeV, and of a possible future upgrade, the High Energy (HE) LHC, defined as $15$ ab$^{-1}$ of data at a centre-of-mass energy of 27 TeV. We consider a large variety of new physics models, both in a simplified model fashion and in a more model-dependent one. A long list of contributions from the theory and experimental (ATLAS, CMS, LHCb) communities have been collected and merged together to give a complete, wide, and consistent view of future prospects for BSM physics at the considered colliders. On top of the usual standard candles, such as supersymmetric simplified models and resonances, considered for the evaluation of future collider potentials, this report contains results on dark matter and dark sectors, long lived particles, leptoquarks, sterile neutrinos, axion-like particles, heavy scalars, vector-like quarks, and more. Particular attention is placed, especially in the study of the HL-LHC prospects, to the detector upgrades, the assessment of the future systematic uncertainties, and new experimental techniques. The general conclusion is that the HL-LHC, on top of allowing to extend the present LHC mass and coupling reach by $20-50\%$ on most new physics scenarios, will also be able to constrain, and potentially discover, new physics that is presently unconstrained. Moreover, compared to the HL-LHC, the reach in most observables will, generally more than double at the HE-LHC, which may represent a good candidate future facility for a final test of TeV-scale new physics

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

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. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

La gestione dell'obbligo informativo nelle indagini prenatali

Analisi di laboratorio invasive, che diagnosticano la totalit\ue0 delle anomalie cromosomiche, ma costose e comportanti un rischio di aborto, e screening non invasivi e meno costosi, ma con limitate capacit\ue0 diagnostiche, rientrano entrambi nelle indagini prenatali finalizzate a identificare lo stato di salute del feto in utero. La scelta del test scaturisce da un difficile bilanciamento tra benefici e rischi, pertanto il colloquio medico-paziente deve svolgersi in modo tale che optino per la diagnosi inva-siva solo le gravide che presentano una reale indicazione clinica