Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is currently based on behavior criteria, which overlooks the diversity of genetic, neurophysiological, and clinical manifestations. Failure to acknowledge such heterogeneity has hindered the development of efficient drug treatments for ASD and other NDDs. DEPI® (Databased Endophenotyping Patient Identification) is a systems biology, multi-omics, and machine learning-driven platform enabling the identification of subgroups of patients with NDDs and the development of patient-tailored treatments. In this study, we provide evidence for the validation of a first clinically and biologically defined subgroup of patients with ASD identified by DEPI, ASD Phenotype 1 (ASD-Phen1). Among 313 screened patients with idiopathic ASD, the prevalence of ASD-Phen1 was observed to be ~24% in 84 patients who qualified to be enrolled in the study. Metabolic and transcriptomic alterations differentiating patients with ASD-Phen1 were consistent with an over-activation of NF-κB and NRF2 transcription factors, as predicted by DEPI. Finally, the suitability of STP1 combination treatment to revert such observed molecular alterations in patients with ASD-Phen1 was determined. Overall, our results support the development of precision medicine-based treatments for patients diagnosed with ASD.

An analysis of occupational accidents involving national and international construction workers in Spain using the association rule technique.

Worker safety awareness on construction sites is a major concern due to the hazardous work conditions. Additionally, globalization is increasing the cultural diversity of the workforce and this influences workers' attitudes, beliefs and behaviour. The growing number of migrant workers in this sector has become a distinctive feature of the industry's labour market. The objective of this article is to analyse occupational accidents that occurred on Spanish construction sites while taking into consideration the nationality of the workers. Due to the large number of accidents and attributes associated with them, the use of association rules is proposed. Overall, results evince similar behaviour, although interesting differences can be observed regarding the occupation of workers. In addition, the results are in accordance with previous studies carried out in other countries. The analysis of these accidents will serve to establish initiatives that provide safer work environments.

An Internet of Things and Fuzzy Markup Language Based Approach to Prevent the Risk of Falling Object Accidents in the Execution Phase of Construction Projects.

The Internet of Things (IoT) paradigm is establishing itself as a technology to improve data acquisition and information management in the construction field. It is consolidating as an emerging technology in all phases of the life cycle of projects and specifically in the execution phase of a construction project. One of the fundamental tasks in this phase is related to Health and Safety Management since the accident rate in this sector is very high compared to other phases or even sectors. For example, one of the most critical risks is falling objects due to the peculiarities of the construction process. Therefore, the integration of both technology and safety expert knowledge in this task is a key issue including ubiquitous computing, real-time decision capacity and expert knowledge management from risks with imprecise data. Starting from this vision, the goal of this paper is to introduce an IoT infrastructure integrated with JFML, an open-source library for Fuzzy Logic Systems according to the IEEE Std 1855-2016, to support imprecise experts' decision making in facing the risk of falling objects. The system advises the worker of the risk level of accidents in real-time employing a smart wristband. The proposed IoT infrastructure has been tested in three different scenarios involving habitual working situations and characterized by different levels of falling objects risk. As assessed by an expert panel, the proposed system shows suitable results.

[A prospective study on the incidence of missed injuries in trauma patients]. / Estudio prospectivo de la incidencia de las lesiones inadvertidas en el paciente politraumatizado.

INTRODUCTION: Missed injuries in trauma patients are injuries not identified during a primary and secondary trauma survey (Advanced Trauma Life Support, ATLS). These injuries are important because of the delay in correct treatment. There is a particularly important sub-group consisting of clinically significant missed injuries, which may cause serious complications in the patient or even death. MATERIAL AND METHOD: A prospective study on missed injuries and clinically significant missed injuries. The study includes all trauma patients older than 16 years admitted to the resuscitation area or who had died during the first 24 hours. We collected injuries, time of their diagnosis and their treatment for each patient. For injuries detected later than 24 hours (i.e. missed injuries) we specified whether it was a clinically significant missed injury and its possible cause. RESULTS: From March of 2006 to January of 2007, 122 trauma patients were recorded with a mean Injury Severity Store of 20 +/- 15.8. Of those, 40.3% had some missed injury, fractures being the most frequent miss (42.7%), followed by chest and abdominal injuries. A clinically significant injury (38.7% of all missed injuries) were found in 17% of trauma patients, the most frequent being spine, abdominal and chest injuries. There is a statistically significant relationship between the presence of missed injuries, high ISS and intubation before or after admission to hospital. CONCLUSIONS: The rate of missed injuries and clinically significant missed injuries is high. Severe trauma patients and intubated patients have higher rates of missed injuries.

[Intraabdominal hypertension and decompressive surgery. Clinical experience]. / Hipertensión abdominal y cirugía descompresiva. Experiencia clínica.

INTRODUCTION: Increased intraabdominal pressure (IAP) is associated with higher complication and mortality rates. Decompressive surgery is the most effective treatment for abdominal hypertension in trauma and septic patients with IAP. OBJECTIVE: To establish the association between IAP, complications, and mortality and to evaluate morbidity and mortality after decompressive surgery. MATERIAL AND METHOD: We performed a prospective, analytical, longitudinal study designed in 2 phases. In the first phase, 17 patients (mean age = 66 years, range: 39-78) admitted to the intensive care unit who underwent abdominal surgery were studied. In the second phase, 47 patients (mean age = 65 years, range: 48-78) underwent decompressive surgery, 6 for abdominal trauma and 41 for postoperative peritonitis. In both phases, all patients were fitted with urinary, arterial, and pulmonary artery catheters. The following variables were recorded: hemodynamic, respiratory and renal parameters; IAP, APACHE II, complications, and mortality. RESULTS: Patients with complications had significantly higher mean IAP (12.3 mm Hg; 95% CI, 10.7-13.9) than those without complications (7.9 mm Hg; 95% CI, 4.7-11.1) (p = 0.004). Patients that survived had a significantly lower mean IAP (8.7 mm Hg; 95% CI, 5.9-11.5) than those that died (12.4 mm Hg; 95% CI, 10.2-14.7) (p = 0.03). In patients who underwent decompressive surgery, a significant difference was found between APACHE II predicted mortality (40.4%) and observed mortality (25.5%) (p = 0.02). One patient with decompressive surgery developed an intestinal fistula. CONCLUSIONS: Controlling IAP, prophylaxis against abdominal hypertension, recognizing abdominal hypertension and decompressive surgery are new parameters and new concepts to be considered in the treatment of critical surgical patients.

Duplicación vesicular: segundo reporte venezolano como hallazgo quirúrgico / Galbladder duplication: second venezuelan report as a surgical finding

Presentar un caso de alteración de la anatomía de la vesícula biliar, a saber duplicación vesicular. Debido a lo infrecuente de esta alteración, hacemos una revisión de la literatura, describiendo el abordaje, diagnóstico y tratamiento de dicha malformación, resaltando la importancia de su identificación y manejo