RESUMEN
Sudden infant death syndrome (SIDS) is still the leading cause of death for newborns in developed countries. The pathophysiological mechanisms have not been fully clarified, but in some of SIDS cases variants of genes associated with inherited cardiac conditions are found. In this study, an analysis of SCD-related genes was performed to determine the prevalence of rare pathogenic (P) or likely pathogenic (LP) variants that could provide an unambiguous explanation for the fatal event. A cohort of 76 SIDS cases underwent Next-Generation Sequencing (NGS) analysis with a custom panel of SCD-related genes. Rare variants were classified according to the guidelines provided by the American College of Medical Genetics and Genomics (ACMG) and the specifications of the ClinGen association. Post-mortem genetic testing identified 50 (65.8%) carriers of at least one variant in SCD genes. 104 rare genetic variants were found, 65.4% in genes encoding structural proteins. Only 4 out of 76 cases (5.3%) hosted at least a P or LP variant found in genes with structural or structural/arrhythmogenic functions (SLC22A5, SCN5A, MYL3and TTN). 99 variants were classified as of uncertain significance (VUS). The difference in the distribution of variants between gene groups by function was not statistically significant (chi square, p = 0,219). Despite this, most of the variants concerned structural genes that were supposed to have a close interaction with ion channels, thus providing an explanation for the arrhythmic event. Segregation analysis, reclassification of VUS variants and identification of new associated genes could clarify the implications of the current findings.
RESUMEN
OBJECTIVES: Accidental falls are among the leading hospitals' adverse events, with incidence ranging from 2 to 20 events per 1.000 days/patients. The objective of this study is to assess the relationship between in-hospital falls and the score of 3 DEPendence and Clinical-Social Fragility indexes. METHODS: A monocentric case-control study was conducted by retrieving data of in-hospital patients from the electronic health records. RESULTS: Significant differences between the mean scores at the hospital admission and discharge were found. The BRASS scale mean (SD) values at the admission and at the discharge were also significantly higher in cases of in-hospital falls: at the admission 10.2 (±7.7) in cases versus 7.0 (±8.0) in controls ( P = 0.003); at the discharge 10.0 (±6.4) versus 6.7 (±7.5) ( P = 0.001). Barthel index mean (SD) scores also presented statistically significant differences: at the admission 60.3 (±40.6) in cases versus 76.0 (±34.8) in controls ( P = 0.003); at discharge 51.3 (±34.9) versus 73.3 (±35.2) ( P = 0.000).Odds ratios were as follows: for Barthel index 2.37 (95% CI, 1.28-4.39; P = 0.003); for Index of Caring Complexity 1.45 (95% CI, 0.72-2.91, P = 0. 255); for BRASS index 1.95 (95% CI, 1.03-3.70, P = 0.026). With BRASS index, the area under the curve was 0.667 (95% CI, 0.595-0.740), thus indicating a moderate predictive power of the scale. CONCLUSIONS: The use of only Conley scale-despite its sensitivity and specificity-is not enough to fully address this need because of the multiple and heterogeneous factors that predispose to in-hospital falls. Therefore, the combination of multiple tools should be recommended.
Asunto(s)
Accidentes por Caídas , Humanos , Accidentes por Caídas/estadística & datos numéricos , Estudios de Casos y Controles , Femenino , Masculino , Anciano , Persona de Mediana Edad , Hospitalización/estadística & datos numéricos , Medición de Riesgo/métodos , Anciano de 80 o más Años , Factores de Riesgo , AdultoRESUMEN
The appearance of a gunshot wound (GSW) is greatly influenced by the velocity of the projectile, where high-velocity projectiles (HVPs) are defined as ballistic agents reaching a muzzle velocity of > 600 m/s fired from assault rifles. The aim of the study is to present and explain the differences in the dimensions of entrance and exit wounds between the most used handguns and assault rifles and to propose a predictor of HVP, i.e., the ratio of exit and entrance wounds (EX/ENR). The surface area of entrance and exit GSWs and the EX/ENR were calculated. 66 perforating GSWs produced by NATO FMJ 7.62 × 52 mm and 5.56 × 42 mm fired from assault rifles were assigned to the HVP, while 64 lesions produced by conventional projectiles fired from revolvers and semi-automatic pistols were assigned to the low-velocity projectile (LVP) group. The dimensions of the exit wounds of the HVP group were significantly higher when compared to the LVP group (95% CI 0.9886-2.423, p < 0.05). The HVP group showed significantly higher values for the EX/ENR when compared to the LVP group (95% CI 2.617-7.173, p < 0.05). The evaluation of the EX/ENR can be considered an adequate tool to assess the type of weapon involved and to roughly estimate the associated wounding mechanisms, which can guide both the physician in the management and treatment of the patients affected by GSW, and the forensic pathologist in crime investigation.
RESUMEN
In forensic investigations, the limitations of the traditional purely autoptic approach can be overcome through post-mortem imaging (virtopsy). Virtospy has several applications to the investigation of brain and spinal injuries, whose analysis can be of forensic interest, especially in cases of suspected malpractice. In this scoping review, we briefly describe the main applications of the two most common post-mortem radiological techniques (computed tomography (CT) and magnetic resonance imaging (MRI)) to the forensic investigation of brain and spinal injuries in cases of medical malpractice or traumatic (accidental/homicidal/suicidal) deaths. Although CT represents the traditional approach to post-mortem imaging, MRI is proving to be a valuable tool to investigate brain and spinal injuries and lesions. These post-mortem radiological techniques can also be used to guide the surgeons in simulated surgical procedures on corpses in the context of training programs, thus helping operators to improve technical and non-technical skills and to reduce the risk of avoidable errors.
Asunto(s)
Lesiones Encefálicas , Traumatismos Vertebrales , Humanos , Imágenes Post Mortem , Columna Vertebral , Encéfalo/diagnóstico por imagenAsunto(s)
COVID-19 , Niño , Humanos , COVID-19/epidemiología , Salud Infantil , Pandemias/prevención & control , Política de SaludRESUMEN
Takotsubo syndrome (TTS) is a cardiac syndrome characterized by transient left ventricular systolic dysfunction in the absence of significant obstructive coronary artery disease. At the autopsy, its diagnosis is often challenging, since it is generally thought that it relates to no characteristic macroscopic or microscopic findings. In order to verify this last statement, we performed a systematic review of the literature following Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement (PRISMA) criteria. To the best of our knowledge, it is the first systematic review addressing this issue. We identified recurring but not pathognomonic (microscopic) features of TTS: contraction band necrosis and non-specific inflammatory changes (e.g., interstitial infiltrates of mononuclear lymphocytes and macrophages) typically in the absence of microscopic findings typical of acute myocardial infarction. In cases of TTS-related sudden death, careful evaluation of anamnesis, autopsy data and post-mortem genetic results (to exclude other causes) should be considered to overcome the complexity of these cases.
Asunto(s)
Enfermedad de la Arteria Coronaria , Infarto del Miocardio , Cardiomiopatía de Takotsubo , Humanos , Infarto del Miocardio/etiología , Corazón , AutopsiaRESUMEN
Fetal growth restriction (FGR) is associated with an increased risk of adverse outcomes resulting from adaptive cardiovascular changes in conditions of placental insufficiency, leading to cardiac deformation and dysfunction, which can be evaluated with 2D speckle tracking echocardiography (2D-STE). The aim of the present study was to evaluate whether reduced fetal growth is associated with cardiac left-ventricle (LV) dysfunction, using 2D-STE software widely used in postnatal echocardiography. A prospective longitudinal cohort study was performed, and global (GLO) and segmental LV longitudinal strain was measured offline and compared between FGR and appropriate-for-gestational-age (AGA) fetuses throughout gestation. All cases of FGR fetuses were paired 1:2 to AGA fetuses, and linear mixed model analysis was performed to compare behavior differences between groups throughout pregnancy. Our study shows LV fetal longitudinal strain in FGR and AGA fetuses differed upon diagnosis and behaved differently throughout gestation. FGR fetuses had lower LV strain values, both global and segmental, in comparison to AGA, suggesting subclinical cardiac dysfunction. Our study provides more data regarding fetal cardiac function in cases of placental dysfunction, as well as highlights the potential use of 2D-STE in the follow-up of cardiac function in these fetuses.
RESUMEN
OBJECTIVES: Claims management is critical to ensure the safe and high-quality medical care for which liability insurers and/or hospitals are responsible. The aim of this research is to determine whether increasing hospital malpractice risk exposure, with increasing deductibles, has an impact on malpractice claims and payouts. METHODS: The study was conducted at a single tertiary hospital, the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Payouts on closed reported and registered claims were analyzed during 4-study periods, which ranged from 1.5 million euro annual aggregate deductibles entirely managed by the insurance company to 5 million euro annual aggregate deductibles entirely managed by the hospital. We retrospectively analyzed 2034 medical malpractice claims submitted between January 1, 2007, and August 31, 2021. Four periods were examined depending on the claims management model adopted, ranging from total outsourcing to the insurer (period A) to an almost total hospital assumption of risk method (period D). RESULTS: We found that progressive hospital assumption of risk is associated with a decrease in the incidence of medical malpractice claims (average variation per year: -3.7%; P = 0.0029 if the 2 initial periods and the 2 last periods-characterized by the highest risk retention-are respectively aggregated and compared), an initial decrease in the mean claims cost followed by an increase that is still lower than the national increase (-5.4% on average), and an increase in the total claims cost (when compared with the period where the insurer solely managed claims). We also found that the rate of increase in payouts was less than the national average. CONCLUSIONS: The assumption of more malpractice risk by the hospital was associated with the adoption of numerous patient safety and risk management initiatives. The decrease in claims incidence could be due to the implementation of patient safety policies, while the cost increase could be attributed to inflation and rising costs of healthcare services and claims. Notably, only the hospital assumption of risk model with a high-deductible insurance coverage is sustainable for the studied hospital, while also being profitable for the insurer. In conclusion, as hospitals progressively assumed more risk and management responsibility of malpractice claims, there was a progressive decrease in the total number of claims, and a less rapid rise in claim payouts as compared with the national average. Even a small assumption of risk appeared to elicit meaningful changes in claim filings and payouts.
Asunto(s)
Seguro , Mala Praxis , Humanos , Estudios Retrospectivos , Deducibles y Coseguros , HospitalesAsunto(s)
COVID-19 , Humanos , Niño , SARS-CoV-2 , Autopsia , Tomografía Computarizada por Rayos X , Causas de MuerteRESUMEN
OBJECTIVES: The aim of this study is to investigate the effect of artificial intelligence (AI) and/or algorithms on drug management in primary care settings comparing AI and/or algorithms with standard clinical practice. Second, we evaluated what is the most frequently reported type of medication error and the most used AI machine type. METHODS: A systematic review of literature was conducted querying PubMed, Cochrane and ISI Web of Science until November 2021. The search strategy and the study selection were conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and the Population, Intervention, Comparator, Outcome framework. Specifically, the Population chosen was general population of all ages (ie, including paediatric patients) in primary care settings (ie, home setting, ambulatory and nursery homes); the Intervention considered was the analysis AI and/or algorithms (ie, intelligent programs or software) application in primary care for reducing medications errors, the Comparator was the general practice and, lastly, the Outcome was the reduction of preventable medication errors (eg, overprescribing, inappropriate medication, drug interaction, risk of injury, dosing errors or in an increase in adherence to therapy). The methodological quality of included studies was appraised adopting the Quality Assessment of Controlled Intervention Studies of the National Institute of Health for randomised controlled trials. RESULTS: Studies reported in different ways the effective reduction of medication error. Ten out of 14 included studies, corresponding to 71% of articles, reported a reduction of medication errors, supporting the hypothesis that AI is an important tool for patient safety. CONCLUSION: This study highlights how a proper application of AI in primary care is possible, since it provides an important tool to support the physician with drug management in non-hospital environments.
Asunto(s)
Inteligencia Artificial , Administración del Tratamiento Farmacológico , Humanos , Niño , Errores de Medicación/prevención & control , Seguridad del Paciente , Atención Primaria de SaludRESUMEN
Biliary atresia (BA) is an inflammatory obliterative cholangiopathy which is very common during neonatal and infancy period. We present an autopsy report of a BA in an infant suffering from a genetic syndrome.
Asunto(s)
Anomalías Múltiples , Atresia Biliar , Recién Nacido , Humanos , Lactante , Atresia Biliar/diagnóstico , Atresia Biliar/patología , Autopsia , Anomalías Múltiples/diagnósticoRESUMEN
INTRODUCTION: Autopsies in SARS-CoV-2 infected cadavers are mainly performed to distinguish patients who died with SARS-CoV-2 infection from those who died of COVID-19. The aim of the current study is to assess the most frequent autopsy findings in patients who died of COVID-19 and to establish an association with clinical records. MATERIALS AND METHODS: 60 patients died between April 2020 and March 2021 after SARS-CoV-2 infection underwent a full autopsy performed at Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Rome). Ante-mortem diagnosis of SARS-CoV-2 infection was microbiologically confirmed. RESULTS: 55 (92%) of cases had at least a comorbidity. At microscopic examination, 40 (67%) of the patients presented pulmonary intravascular coagulation with an inflammatory pattern. Pulmonary microangiopathy was a rare finding (n = 8; 13%). Myocardiosclerosis was the main heart finding (n = 44; 73%). Liver involvement with congestion and hypotrophy was found in 33 (55%) of cadavers. Renal tubular epithelial exfoliation (n = 12; 20%) and intravascular coagulation (n = 4; 7%) were frequent observations. During hospitalization 31% of patients (n = 19) developed acute kidney injury (AKI). CONCLUSIONS: Lungs and kidneys have been shown to play a pivotal role in COVID-19. The gradual worsening of renal function and AKI might be the result of the progressive collapse of cardiopulmonary system.
Asunto(s)
Lesión Renal Aguda , COVID-19 , Humanos , SARS-CoV-2 , Autopsia , Muerte , CadáverRESUMEN
BACKGROUND: Bile duct injury (BDI) following cholecystectomy is associated with malpractice litigation. Aim of this study was to evaluate risk factors for litigation in patients with BDI referred in a tertiary care center. METHODS: Patients treated for BDI between 1994 and 2016. Stabilized inverse probability therapy weighting was used and multivariable logistic regression analysis identified risk factors for malpractice litigation. RESULTS: Of the 211 treated patients, 98 met the inclusion criteria: early-referral group (<20 days; 51.0%), late-referral (≥20 days; 49.0%). 36 patients (36.7%) initiated malpractice litigation with verdict in favor of plaintiff in 86.7% of cases (median payment = 90 500, up to 600 000). Attempts at surgical and endoscopic repair before referral were significantly higher in late-referral group. Failed postoperative management (delayed referral, attempts at repair before referral) was one of the strongest predictors for litigation. Risk of litigation progressively increased from 23.8%, when referral time was within 19 days, to 54.5% (61-120 days), to 60.0% (121-210 days) and to 65.1% (211-365 days). DISCUSSION: Litigation rate after BDI was 37%. Delayed referral to tertiary care center was one of the strongest predictors for litigation. Prompt referral to tertiary experienced centers without any attempt at repair may reduce the risk of litigation.
Asunto(s)
Traumatismos Abdominales , Enfermedades de los Conductos Biliares , Colecistectomía Laparoscópica , Mala Praxis , Humanos , Centros de Atención Terciaria , Colecistectomía , Enfermedades de los Conductos Biliares/etiología , Derivación y Consulta , Conductos Biliares/lesiones , Colecistectomía Laparoscópica/efectos adversosRESUMEN
PURPOSE: To evaluate the usefulness of studying vital injuries at the sternal head insertion of the sternocleidomastoid muscle in the medico-legal assessment of death by hanging. MATERIALS AND METHODS: Study material was obtained from eight bodies of people who died from hanging. The control group included as many specimens collected from people who died from traumatic causes other than hanging (precipitation from medium to large heights and traffic accidents). The structures under study were examined histologically with a BX-51 light microscope (Olympus). An analysis of the extravasated erythrocytes was performed by counting the number per mm2 in the histologic section on 10 HPF (400×), and Student's t-test for a comparison of the averages was applied for all parametric values. The authors noted that the key finding, indicative of the subject's viability at the time of discontinuation, was the presence of recent hemorrhagic infiltrate (in the absence of hemosiderin) at the tendon insertion of the sternocleidomastoid muscle and the proximal part of the muscle itself. RESULTS: All specimens tested were positive for the presence of hemorrhagic infiltrate at the portions tested in a statistically significant manner. In contrast, in the control cases there was no or, where present, no statistically significant (p < 0.05) presence of recent hemorrhagic infiltrate. The limitation of the study is the low number of samples examined. In any case, the results obtained are strongly indicative of the possibility of using this type of forensic pathological investigation in cases where there is a doubt in terms of a differential diagnosis between hanging (suicidal type) and suspension of a corpse in a simulation of hanging.
RESUMEN
Informed consent is the manifestation of the will that a patient freely expresses toward a medical treatment. The physician is responsible for acquiring informed consent for both medical and nursing procedures. Informed consent represents a juridical-deontological tool that allows therapeutic choices to be shared with the user after having exhaustively explained the risks and benefits of the procedure itself. In fact, the physician has an obligation to provide the patient with clear and comprehensible information about the type of service, the methods of delivery, the benefits, the risks, even unforeseeable ones, and the complications. According to Italian legal guidelines, in cases of presumed health responsibility, the health professional accused of negligence will have to demonstrate that any complication that has arisen, although foreseeable, was not preventable. Through the analysis of a clinical case relating to the procedure of insertion of a bladder catheter performed by a nurse and a review of the literature, the authors explain the importance of the information that must be provided to the patient before carrying out any invasive procedure, even if not performed by the doctor. The authors describe the problem in the Italian context and propose a possible solution.
RESUMEN
In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as negative or non-conclusive, usually occurs in young population. In these cases, in which the cause of death is unascertained after a thorough autopsy, an underlying inherited arrhythmogenic syndrome is the main suspected cause of death. Next-generation sequencing allows a rapid and cost-effectives genetic analysis, identifying a rare variant classified as potentially pathogenic in up to 25% of sudden death cases in young population. The first symptom of an inherited arrhythmogenic disease may be a malignant arrhythmia, and even sudden death. Early identification of a pathogenic genetic alteration associated with an inherited arrhythmogenic syndrome may help to adopt preventive personalized measures to reduce risk of malignant arrhythmias and sudden death in the victim's relatives, at risk despite being asymptomatic. The current main challenge is a proper genetic interpretation of variants identified and useful clinical translation. The implications of this personalized translational medicine are multifaceted, requiring the dedication of a specialized team, including forensic scientists, pathologists, cardiologists, pediatric cardiologists, and geneticists.
RESUMEN
INTRODUCTION: This study aims to assess students' knowledge of forensic medicine concepts and their opinions regarding the course taught during the degree course in Medicine and Surgery in an Italian university. Consequently, the study aims to assess the impact of the course on the students' knowledge and attitude in choosing a medical residency. MATERIALS AND METHODS: A cross-sectional study was conducted through an anonymous web-based survey of medical students at the Università Cattolica del Sacro Cuore. Descriptive and univariate analysis were conducted. RESULTS: 1166 students completed the survey. The forensic medicine course appears to be extremely important in providing training in the fundamental concepts of forensic medicine, especially professional liability, defensive medicine, and forensic pathology. Attending autopsies is important during the course, and their number should be more than ten. Additionally, univariate analysis demonstrates that students' awareness of forensic medicine topics, such as the function of the forensic physicians, professional liability, and defensive medicine, improves in the fifth or sixth year of the course. After the course, more students would choose to pursue a nonclinical and nonsurgical specialty, and forensic medicine specifically, for their residency. CONCLUSIONS: The forensic medicine course has the task of defining the duties and responsibilities of forensic physicians, providing indispensable tools for future medical practitioners, regardless of their future specialisation, and limiting the increasing use of defensive medicine. In conclusion, we recommend further multicenter studies to evaluate the role and direct effect of undergraduate forensic medicine courses on students and on the quality of practice.
Asunto(s)
Educación de Pregrado en Medicina , Internado y Residencia , Estudiantes de Medicina , Humanos , Estudios Transversales , Actitud , Medicina Legal/educación , Encuestas y CuestionariosRESUMEN
Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most than 80% of rare variants remain classified with an ambiguous role, impeding a useful clinical translation. Our aim was to update rare variants originally classified as of unknown significance to clarify their role. Our cohort included fifty-one post-mortem samples of young cases who died suddenly and without a definite cause of death. Five years ago, molecular autopsy identified at least one rare genetic alteration classified then as ambiguous following the American College of Medical Genetics and Genomics' recommendations. We have reclassified the same rare variants including novel data. About 10% of ambiguous variants change to benign/likely benign mainly because of improved population frequencies. Excluding cases who died before one year of age, almost 21% of rare ambiguous variants change to benign/likely benign. This fact makes it important to discard these rare variants as a cause of sudden unexplained death, avoiding anxiety in relatives' carriers. Twenty-five percent of the remaining variants show a tendency to suspicious deleterious role, highlighting clinical follow-up of carriers. Periodical reclassification of rare variants originally classified as ambiguous is crucial, at least updating frequencies every 5 years. This action aids to increase accuracy to enable and conclude a cause of death as well as translation into the clinic.