RESUMO
Transthoracic echocardiography (TTE) is routinely required during pre-participation screening in the presence of symptoms, family history of sudden cardiac death or cardiomyopathies <40-year-old, murmurs, abnormal ECG findings or in the follow-up of athletes with a history of cardiovascular disease (CVD). TTE is a cost-effective first-line imaging modality to evaluate the cardiac remodeling due to long-term, intense training, previously known as the athlete's heart, and to rule out the presence of conditions at risk of sudden cardiac death, including cardiomyopathies, coronary artery anomalies, congenital, aortic and heart valve diseases. Moreover, TTE is useful for distinguishing physiological cardiac adaptations during intense exercise from pathological behavior due to an underlying CVD. In this expert opinion statement endorsed by the Italian Society of Sports Cardiology, we discussed common clinical scenarios where a TTE is required and conditions falling in the grey zone between the athlete's heart and underlying cardiomyopathies or other CVD. In addition, we propose a minimum dataset that should be included in the report for the most common indications of TTE in sports cardiology clinical practice.
Assuntos
Cardiologia , Ecocardiografia , Sociedades Médicas , Medicina Esportiva , Humanos , Ecocardiografia/métodos , Ecocardiografia/normas , Medicina Esportiva/métodos , Medicina Esportiva/normas , Itália , Sociedades Médicas/normas , Cardiologia/normas , Cardiologia/métodos , Morte Súbita Cardíaca/prevenção & controle , Atletas , Prova Pericial/métodos , Prova Pericial/normas , Esportes/fisiologia , Doenças Cardiovasculares/diagnóstico por imagemRESUMO
Recommendations formulated by the Professor Jan Sehn Institute of Forensic Research in Kraków and approved by the Board of the Polish Society of Forensic Medicine and Criminology on November 28, 2023.
Assuntos
Medicina Legal , Humanos , Polônia , Medicina Legal/normas , Medicina Legal/métodos , Concentração Alcoólica no Sangue , Detecção do Abuso de Substâncias/métodos , Detecção do Abuso de Substâncias/normas , Consumo de Bebidas Alcoólicas , Intoxicação Alcoólica , Etanol/análise , Prova Pericial/normasAssuntos
Medicina Baseada em Evidências/normas , Guias de Prática Clínica como Assunto , Cirurgia Plástica/normas , Competência Clínica/normas , Medicina Baseada em Evidências/tendências , Prova Pericial/normas , Prova Pericial/tendências , Humanos , Cirurgiões/normas , Cirurgiões/tendências , Cirurgia Plástica/tendênciasRESUMO
BACKGROUND: Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted. METHODS: An international panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes with idiopathic DCM. The panel used the Clinical Genome Resource semiquantitative gene-disease clinical validity classification framework with modifications for DCM genetics to classify genes into categories on the basis of the strength of currently available evidence. Representation of DCM genes on clinically available genetic testing panels was evaluated. RESULTS: Fifty-one genes with human genetic evidence were curated. Twelve genes (23%) from 8 gene ontologies were classified as having definitive (BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN) or strong (DSP) evidence. Seven genes (14%; ACTC1, ACTN2, JPH2, NEXN, TNNI3, TPM1, VCL) including 2 additional ontologies were classified as moderate evidence; these genes are likely to emerge as strong or definitive with additional evidence. Of these 19 genes, 6 were similarly classified for hypertrophic cardiomyopathy and 3 for arrhythmogenic right ventricular cardiomyopathy. Of the remaining 32 genes (63%), 25 (49%) had limited evidence, 4 (8%) were disputed, 2 (4%) had no disease relationship, and 1 (2%) was supported by animal model data only. Of the 16 evaluated clinical genetic testing panels, most definitive genes were included, but panels also included numerous genes with minimal human evidence. CONCLUSIONS: In the curation of 51 genes, 19 had high evidence (12 definitive/strong, 7 moderate). It is notable that these 19 genes explain only a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed. Clinical genetic testing panels include most high-evidence genes; however, genes lacking robust evidence are also commonly included. We recommend that high-evidence DCM genes be used for clinical practice and that caution be exercised in the interpretation of variants in variable-evidence DCM genes.
Assuntos
Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Medicina Baseada em Evidências/métodos , Prova Pericial/métodos , Predisposição Genética para Doença/genética , Testes Genéticos/métodos , Medicina Baseada em Evidências/normas , Prova Pericial/normas , Testes Genéticos/normas , HumanosRESUMO
Recent research on second-generation long-acting injectable antipsychotics (LAI SGAs) has proven its effectiveness in minimizing medication nonadherence problem and reducing relapses. Administered by medical professionals, making quick detection of nonadherence possible, long-acting injectable antipsychotics (LAIs) facilitate immediate intervention and recovery process, and thus are favored by psychiatrists. Despite a higher initial cost with LAIs, the subsequent schizophrenia-related health costs for hospitalizations and outpatients are greatly reduced. With reference to guidelines published by psychiatric associations around the globe, this article looks at scenarios in Hong Kong on the management of severe mentally ill patients with regard to the use of a host of psychosocial interventions as well as LAI SGAs as a preferable treatment. In particular, it examines the benefits of using LAI SGAs for Hong Kong patients who demonstrated high nonadherence treatment rates due to their social environment. It assesses the rationale behind the early usages of LAI SGAs, which help to provide better recovery outcomes for patients.
Assuntos
Antipsicóticos/uso terapêutico , Prova Pericial/normas , Esquizofrenia/tratamento farmacológico , Esquizofrenia/epidemiologia , Psicologia do Esquizofrênico , Cooperação e Adesão ao Tratamento/psicologia , Prova Pericial/métodos , Hong Kong/epidemiologia , Humanos , Resultado do TratamentoRESUMO
BACKGROUND: The risk of complications, including death, is substantially increased in patients with pulmonary hypertension (PH) undergoing anaesthesia for surgical procedures, especially in those with pulmonary arterial hypertension (PAH) and chronic thromboembolic PH (CTEPH). Sedation also poses a risk to patients with PH. Physiological changes including tachycardia, hypotension, fluid shifts, and an increase in pulmonary vascular resistance (PH crisis) can precipitate acute right ventricular decompensation and death. METHODS: A systematic literature review was performed of studies in patients with PH undergoing non-cardiac and non-obstetric surgery. The management of patients with PH requiring sedation for endoscopy was also reviewed. Using a framework of relevant clinical questions, we review the available evidence guiding operative risk, risk assessment, preoperative optimisation, and perioperative management, and identifying areas for future research. RESULTS: Reported 30 day mortality after non-cardiac and non-obstetric surgery ranges between 2% and 18% in patients with PH undergoing elective procedures, and increases to 15-50% for emergency surgery, with complications and death usually relating to acute right ventricular failure. Risk factors for mortality include procedure-specific and patient-related factors, especially markers of PH severity (e.g. pulmonary haemodynamics, poor exercise performance, and right ventricular dysfunction). Most studies highlight the importance of individualised preoperative risk assessment and optimisation and advanced perioperative planning. CONCLUSIONS: With an increasing number of patients requiring surgery in specialist and non-specialist PH centres, a systematic, evidence-based, multidisciplinary approach is required to minimise complications. Adequate risk stratification and a tailored-individualised perioperative plan is paramount.
Assuntos
Consenso , Prova Pericial/normas , Hipertensão Pulmonar/cirurgia , Assistência Perioperatória/normas , Complicações Pós-Operatórias/prevenção & controle , Prova Pericial/métodos , Humanos , Hipertensão Pulmonar/diagnóstico , Assistência Perioperatória/métodos , Complicações Pós-Operatórias/diagnósticoAssuntos
COVID-19/epidemiologia , Defesa Civil , Previsões , Pandemias , Defesa Civil/métodos , Defesa Civil/organização & administração , Defesa Civil/normas , Surtos de Doenças/prevenção & controle , Surtos de Doenças/estatística & dados numéricos , Prova Pericial/normas , Previsões/métodos , Ocupações em Saúde/normas , Ocupações em Saúde/estatística & dados numéricos , Ocupações em Saúde/tendências , Número de Leitos em Hospital/normas , Humanos , Pandemias/prevenção & controle , Administração em Saúde Pública/métodos , Administração em Saúde Pública/normas , SARS-CoV-2/fisiologia , Reino Unido/epidemiologia , Estados Unidos/epidemiologiaRESUMO
COVID-19 has caused great devastation in the past year. Multi-organ point-of-care ultrasound (PoCUS) including lung ultrasound (LUS) and focused cardiac ultrasound (FoCUS) as a clinical adjunct has played a significant role in triaging, diagnosis and medical management of COVID-19 patients. The expert panel from 27 countries and 6 continents with considerable experience of direct application of PoCUS on COVID-19 patients presents evidence-based consensus using GRADE methodology for the quality of evidence and an expedited, modified-Delphi process for the strength of expert consensus. The use of ultrasound is suggested in many clinical situations related to respiratory, cardiovascular and thromboembolic aspects of COVID-19, comparing well with other imaging modalities. The limitations due to insufficient data are highlighted as opportunities for future research.
Assuntos
COVID-19/diagnóstico por imagem , Consenso , Ecocardiografia/normas , Prova Pericial/normas , Internacionalidade , Sistemas Automatizados de Assistência Junto ao Leito/normas , COVID-19/terapia , Ecocardiografia/métodos , Prova Pericial/métodos , Humanos , Pulmão/diagnóstico por imagem , Tromboembolia/diagnóstico por imagem , Tromboembolia/terapia , Triagem/métodos , Triagem/normas , Ultrassonografia/normasAssuntos
Pesquisa Biomédica , Infecções por Coronavirus , Prova Pericial , Pandemias , Pneumonia Viral , Saúde Pública , Betacoronavirus , Pesquisa Biomédica/ética , Pesquisa Biomédica/normas , COVID-19 , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Medicina de Emergência Baseada em Evidências , Prova Pericial/ética , Prova Pericial/normas , Política de Saúde , Humanos , Pandemias/prevenção & controle , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Formulação de Políticas , Profissionalismo/normas , Saúde Pública/ética , Saúde Pública/métodos , Saúde Pública/normas , SARS-CoV-2 , Responsabilidade SocialRESUMO
Y chromosome typing has been performed in forensic genetic practice for more than 20 years. The latest recommendations of the DNA Commission of the International Society of Forensic Genetics (ISFG) concerning the application of Y-chromosomal markers in forensic genetics were published in 2006. The aim of this report is to recapitulate, systematise and supplement existing recommendations on the forensic analysis of polymorphism of the Y chromosome with standards already implemented in practice, new capabilities linked to the development of research techniques as well as current solutions used in statistical analysis. The recommendations have been adapted specifically to aspects related to the preparation of expert opinions in the field of forensic genetics in Poland. The Polish Speaking Working Group of the ISFG believes that the presented guidelines should become a standard implemented by all Polish laboratories performing Y chromosome typing for forensic purposes.
Assuntos
Cromossomos Humanos Y , Impressões Digitais de DNA/normas , Genética Forense/normas , Polimorfismo Genético , Mapeamento Cromossômico/normas , Prova Pericial/normas , Guias como Assunto , Humanos , Polônia , Sociedades Científicas/normasRESUMO
AIM OF THE STUDY: Analysis of forensic medical opinions in the field of obstetrics prepared at the Department of Forensic Medicine, Jagiellonian University Medical College in Krakow, in 2010-2016, in order to evaluate changes in the number of filed cases involving an alleged medical error over the years, and determine the most common situations where medical errors are suspected by patients, and the most prevalent types of medical errors in obstetrics. MATERIAL AND METHODS: The opinions were divided into two groups. In the first group, the medical management was appropriate, while in the second group medical errors were identified. The medical errors were categorised as diagnostic/therapeutic, technical, and organisational. The effects of medical errors were classified as death, impairment to health, exposure to death, and exposure to impairment to health, by considering them separately for post-natal women, and for foetuses and neonates (during the first days of life). RESULTS: A total of 73 forensic medical opinions were analysed. In 25 cases, a medical error was identified. The most common situations in which a medical error was committed, and in which the suspicion of medical error proved to be unfounded, were listed. Overall, there were 17 diagnostic/therapeutic errors, 7 organisational errors, and 4 technical errors. In cases where a medical error was identified, there were 15 deaths, and in cases without a medical error - 31 deaths. CONCLUSIONS: It was found that 66% of the analysed forensic medical opinions involved no medical errors. In most of these cases, a therapeutic failure occurred, including perinatal haemorrhage, tight wrapping of the umbilical cord around the foetal neck (nuchal cord), premature birth, and septic complications. A few cases involved uncooperative patients. The most prevalent medical error was failure to perform or delaying a caesarean section when it was needed (because of emergency or urgent indications). The second most common medical error was related to incorrect CTG interpretation.
Assuntos
Competência Clínica/legislação & jurisprudência , Prova Pericial/legislação & jurisprudência , Medicina Legal/legislação & jurisprudência , Imperícia/legislação & jurisprudência , Complicações do Trabalho de Parto/patologia , Centros Médicos Acadêmicos , Prova Pericial/normas , Feminino , Humanos , Erros Médicos , GravidezAssuntos
Cardiologia/normas , Doenças Cardiovasculares/terapia , Consenso , Diabetes Mellitus Tipo 2/terapia , Prova Pericial/normas , Relatório de Pesquisa/normas , Cardiologia/métodos , Doenças Cardiovasculares/epidemiologia , Tomada de Decisão Clínica/métodos , Membro de Comitê , Diabetes Mellitus Tipo 2/epidemiologia , Fatores de Risco de Doenças Cardíacas , Humanos , Comportamento de Redução do Risco , Estados Unidos/epidemiologiaRESUMO
Forensic assessments must be scientifically founded, because courts should obtain expert evidence with acceptable evidential value. In Slovenia, professional guidelines of forensic personality assessment are too general and not always in line with international professional recommendations. Thus, experts have no strict guidelines which would lead them to scientifically grounded expert opinions. The aim of the research was to establish which tests are employed in forensic assessment in Slovenia and to what extent the professional guidelines for expert opinions are followed. A total of 166 forensic personality assessments were reviewed, representing the majority of expert opinions issued in the period 2003-2018. The results of the analysis revealed that questionable projective tests are most commonly used. Typically, an expert opinion was rendered based on two tests, at least one of which was projective. What is more, expert opinions did not include hypotheses, in-text citations, reference lists, or proof of the expert witness's competence. The tests and their results were mentioned briefly and inadequately, without mention of their reliability and validity. Possible malingering of the person being evaluated was not detected. Professional guidelines were not followed and non-standardized tests without normative values and of questionable scientific merit were predominantly used, despite lack of proof that they truly measure what they claim to be measuring. These findings significantly differ from the results of similar research, raising serious concerns over the credibility of expert opinions in Slovenia.
Assuntos
Prova Pericial/normas , Psicologia Forense , Determinação da Personalidade/normas , Adulto , Criança , Feminino , Guias como Assunto/normas , Humanos , Masculino , Reprodutibilidade dos Testes , EslovêniaRESUMO
BACKGROUND: During the peak of the COronaVIrus Disease 2019 (COVID-19) pandemic, care for patients with gastrointestinal motility and functional disorders was largely suspended. In the recovery phases of the pandemic, non-urgent medical care is resumed, but there is a lack of guidance for restarting and safely conducting motility and function testing. Breath tests and insertion of manometry and pH-monitoring probes carry a risk of SARS-CoV-2 spread through droplet formation. METHODS: A panel of experts from the European Society for Neurogastroenterology and Motility (ESNM) evaluated emerging national and single-center recommendations to provide the best current evidence and a pragmatic approach to ensure the safe conduct of motility and function testing for both healthcare professionals and patients. RESULTS: At a general level, this involves evaluation of the urgency of the procedure, evaluation of the infectious risk associated with the patient, the investigation and the healthcare professional(s) involved, provision of the test planning and test units, education and training of staff, and use of personnel protection equipment. Additional guidance is provided for specific procedures such as esophageal manometry, pH monitoring, and breath tests. CONCLUSIONS AND INFERENCES: The ESNM guidelines provide pragmatic and appropriate guidance for the safe conduct of motility and function testing in the COVID-19 pandemic and early recovery phase.
Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Gastroenterologia/normas , Motilidade Gastrointestinal/fisiologia , Neurologia/normas , Pneumonia Viral/epidemiologia , Guias de Prática Clínica como Assunto/normas , Recuperação de Função Fisiológica/fisiologia , COVID-19 , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/terapia , Europa (Continente)/epidemiologia , Prova Pericial/métodos , Prova Pericial/normas , Pessoal de Saúde/normas , Humanos , Pandemias/prevenção & controle , Pneumonia Viral/diagnóstico , Pneumonia Viral/terapia , Roupa de Proteção/normas , SARS-CoV-2 , Sociedades Médicas/normasRESUMO
OBJECTIVES: Vascular access device decision-making for pediatric patients remains a complex, highly variable process. To date, evidence-based criteria to inform these choices do not exist. The objective of the Michigan Appropriateness Guide for Intravenous Catheters in pediatrics (miniMAGIC) was to provide guidance on device selection, device characteristics, and insertion technique for clinicians, balancing and contextualizing evidence with current practice through a multidisciplinary panel of experts. METHODS: The RAND Corporation and University of California, Los Angeles Appropriateness Method was used to develop miniMAGIC, which included the following sequential phases: definition of scope and key terms, information synthesis and literature review, expert multidisciplinary panel selection and engagement, case scenario development, and appropriateness ratings by an expert panel via 2 rounds. RESULTS: The appropriateness of the selection, characteristics, and insertion technique of intravenous catheters commonly used in pediatric health care across age populations (neonates, infants, children, and adolescents), settings, diagnoses, clinical indications, insertion locations, and vessel visualization devices and techniques was defined. Core concepts including vessel preservation, insertion and postinsertion harm minimization (eg, infection, thrombosis), undisrupted treatment provision, and inclusion of patient preferences were emphasized. CONCLUSIONS: In this study, we provide evidence-based criteria for intravenous catheter selection (from umbilical catheters to totally implanted venous devices) in pediatric patients across a range of clinical indications. miniMAGIC also highlights core vascular access practices in need of collaborative research and innovation.