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.

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

Introducción. Las lesiones inadvertidas en el paciente politraumatizado son aquellas no identificadas durante la revisión primaria y la secundaria (Advanced Trauma Life Support, ATLS). La importancia de estas lesiones radica en el retraso del inicio del tratamiento adecuado. Hay un subgrupo especialmente importante constituido por las lesiones inadvertidas clínicamente relevantes, que comportan complicaciones graves o incluso la muerte del paciente. Material y método. Estudio prospectivo de las lesiones inadvertidas y de las clínicamente relevantes, que incluye a todos los politraumatizados mayores de 16 años ingresados en el área de críticos o aquellos que han fallecido durante las primeras 24 h. Para cada enfermo se recogen sus lesiones, el momento del diagnóstico y su tratamiento. En las lesiones detectadas después de las primeras 24 h, lesiones inadvertidas, se especifica si la lesión es clínicamente relevante y su posible causa. Resultados. De marzo de 2006 a enero de 2007 se han recogido 122 politraumatizados con una media ± desviación estándar del índice de severidad (ISS) de 20 ± 15,8. El 40,3% de los pacientes presentaba alguna lesión inadvertida, con más frecuencia las fracturas (42,7%), seguidas por las lesiones torácicas y abdominales. El 17% de los pacientes presentaba alguna lesión inadvertida clínicamente relevante (el 38,7% de todas las lesiones inadvertidas), entre ellas, las más frecuentes son las lesiones de columna, las abdominales y las torácicas. Hay una relación estadísticamente significativa entre la aparición de lesiones inadvertidas, ISS elevados y pacientes intubados antes o tras el ingreso. Conclusiones. La incidencia de lesiones inadvertidas y lesiones inadvertidas clínicamente relevantes es elevada. Los politraumatizados más graves y los intubados presentan una mayor incidencia de lesiones inadvertidas (AU)

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 particulary 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 (AU)

[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.

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

Introducción. El aumento de la presión intraabdominal (PIA) se relaciona con un mayor número de complicaciones y mortalidad. La cirugía descompresiva es el mejor método para el tratamiento de los pacientes traumáticos y sépticos afectos de hipertensión abdominal. Objetivo. Establecer la relación entre PIA, complicaciones y mortalidad. Evaluar la morbilidad y la mortalidad tras cirugía descompresiva. Material y método. Estudio prospectivo, longitudinal y analítico diseñado en dos fases: 17 pacientes ingresados en la unidad de cuidados intensivos e intervenidos de cirugía abdominal. Edad, 66 (39-78) años. Colocación de sonda vesical, catéter arterial y catéter de arteria pulmonar. Registro de parámetros hemodinámicos, respiratorios y renales. Registro de la presión intraabdominal y del APACHE-II, complicaciones y mortalidad. Segunda fase: 47 pacientes sometidos a cirugía descompresiva, 6 por trauma abdominal y 41 por peritonitis postoperatorias. Edad, 65 (48-78) años. Idéntica metodología. Resultados. La PIA media de los pacientes complicados fue significativamente mayor que la de los que no presentaron complicaciones, 12,3 mmHg (intervalo de confianza [IC] del 95%, 10,7-13,9) y 7,9 mmHg (IC del 95%, 4,7-11,1; p = 0,004). PIA media de los pacientes que sobrevivieron, 8,7 mmHg (IC del 95%, 5,9- 11,5) y 12,4 mmHg de los que fallecieron (IC del 95%, 10,2-14,7; p = 0,03). La diferencia entre la mortalidad esperada por el APACHE-II de los pacientes sometidos a cirugía descompresiva (40,4%) y la observada (25,5%) es significativa (p = 0,02). Una fístula intestinal en los pacientes con cirugía descompresiva. Conclusiones. Controlar la presión intraabdominal, reconocerla, su profilaxis y la cirugía descompresiva constituyen nuevos parámetros y nuevos conceptos que tener en cuenta en el tratamiento de los pacientes quirúrgicos críticos (AU)

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 (..) (AU)

Importancia de la curva de aprendizaje de la anopexia con PPH-33 para el tratamiento quirúrgico de las hemorroides / Effect and importance of the learning curve on the results of stapled mucosectomy with PPH-33 for the treatment of hemorrhoids

Introducción. Los resultados publicados de la mucosectomía circular mecánica con PPH-33 (MCM) para el tratamiento de las hemorroides de grados IIIIV ofrecen ventajas en términos de postoperatorio inmediato e incorporación a la actividad normal frente a las técnicas clásicas, siendo similares a largo plazo. Los malos resultados iniciales y su implante sin el debido aprendizaje han causado el abandono de la MCM en muchos centros. El objetivo del presente trabajo consiste en describir la importancia de la curva de aprendizaje a través de su influencia en los resultados.Pacientes y método. Estudio retrospectivo de los primeros 100 pacientes intervenidos de hemorroides de grados III-IV mediante MCM por los mismos cirujanos (octubre 1999-mayo 2002). La muestra se dividió en 2 grupos, correspondientes a 2 períodos cronológicos, de 50 pacientes cada uno.Resultados. La edad media fue de 48,7 años, con un predominio de varones (62 varones frente a 38 mujeres); 56 pacientes tenían hemorroides de grado III y 44 de grado IV. El seguimiento medio fue de 21,4 meses (mínimo, 12 meses). No hubo diferencias en las variables clínicas y poblacionales entre grupos, que fueron homogéneos y comparables. Tras la cirugía se observaron diferencias significativas en la distancia de la anastomosis a la línea pectínea (3,04 frente a 3,37 cm; p < 0,05) y el dolor postoperatorio (escala analógica 0-10) (1,36 frente a 3,96; p < 0,001).El sangrado postoperatorio fue nulo o leve en el 83 por ciento de los casos, sin diferencias entre grupos.Tres casos del grupo 1 presentaron dolor persistente con resolución en los primeros 6 meses. Recidivaron 2 casos del primer grupo. De todos los factores, sólo la altura de la anastomosis se relacionó con el dolor postoperatorio y el grado de hemorragia (p < 0,05).Conclusiones. Hay una curva de aprendizaje donde los resultados y complicaciones pueden no ser los esperados, tras la cual mejoran, sobre todo en términos de dolor postoperatorio, lo que hace necesaria una adecuada puesta en marcha de la técnica y la evaluación de los resultados (AU)

Varicocele intratesticular: características ecográficas y de resonancia magnética. A propósito de un caso / Intratesticular varicocele: ultrasonographic and magnetic resonance imaging findings

El varicocele intratesticular es una patología vascular infrecuente (menos del 2 por ciento de la población sintomática). Se caracteriza por dilatación de las venas intratesticulares. Su etiopatología y alcance clínico no son aún bien conocidas. Se diagnostica fácilmente por ecografíaDoppler y es posible su diagnóstico mediante resonancia magnética (AU)

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