Ocular manifestations in Gorlin-Goltz syndrome

Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients. Results: Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients. Conclusions: The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients

The Team Orienteering Problem with Overlaps : An Application in Cash Logistics

The team orienteering problem (TOP) aims at finding a set of routes subject to maximum route duration constraints that maximize the total collected profit from a set of customers. Motivated by a real-life automated teller machine cash replenishment problem that seeks for routes maximizing the number of bank account holders having access to cash withdrawal, we investigate a generalization of the TOP that we call the team orienteering problem with overlaps (TOPO). For this problem, the sum of individual profits may overestimate the real profit. We present exact solution methods based on column generation and a metaheuristic based on large neighborhood search to solve the TOPO. An extensive computational analysis shows that the proposed solution methods can efficiently solve synthetic and real-life TOPO instances. Moreover, the proposed methods are competitive with the best algorithms from the literature for the TOP. In particular, the exact methods can find the optimal solution of 371 of the 387 benchmark TOP instances, 33 of which are closed for the first time

Impact of endometriomas and deep in\ufb01ltrating endometriosis on pregnancy outcomes and on first and second trimester markers of impaired placentation

Background and objective: Previous studies did not draw a definitive conclusion about the influence of the role of deep endometriosis (DE) and ovarian endometrioma (OE) as risk factor for developing adverse perinatal outcomes in patients affected by endometriosis. This study aimed to investigate if adverse fetal and maternal outcomes, and in particular the incidence of small for gestational age (SGA) infants, are different in pregnant women with OE versus pregnant women with DE without OE. Material and methods: This study was based on a retrospective analysis of a database collected prospectively. The population included in the study was divided into three groups: Patients with OE, patients with DE without concomitant OE, and patients without endometriosis (controls). The controls were matched on the basis of age and parity. Demographic data at baseline and pregnancy outcomes were recorded. Results: There was no statistically significant difference in first trimester levels of PAPP-A, first and mid-pregnancy trimester mean Uterine Artery Doppler pulsatile index, estimated fetal weight centile, and SGA fetuses\u2019 prevalence for patients with OE, and those with DE without OE in comparison to health women; moreover, there was no statistically significant difference with regard to SGA birth prevalence, prevalence of preeclampsia, and five-minute Apgar score between these three groups. Conclusions: The specific presence of OE or DE in pregnant women does not seem to be associated with an increased risk of delivering an SGA infant. These data seem to suggest that patients with endometriosis should be treated in pregnancy as the general population, thus not needing a closer monitoring

El revés de la trama en los dispositivos de apoyo a la inserción laboral juvenil : Un análisis del Programa Jóvenes con Más y Mejor Trabajo

El presente artículo pone foco en analizar el Programa Jóvenes con Más y Mejor Trabajo (PJMMT) como parte de estas nuevas iniciativas, desde los múltiples sentidos que adquiere. En primer lugar, se rescatan brevemente los antecedentes del dispositivo al mismo tiempo que se realiza una caracterización de su lógica político-institucional. En una segunda instancia, se profundiza esta mirada analítica al indagar las tramas que despliegan múltiples actores e instituciones. Desde este lugar, nos proponemos señalar tanto las articulaciones novedosas como también los límites y contradicciones que surgen en el proceso de implementación de la política.Facultad de Humanidades y Ciencias de la Educació

El revés de la trama en los dispositivos de apoyo a la inserción laboral juvenil : Un análisis del Programa Jóvenes con Más y Mejor Trabajo

El presente artículo pone foco en analizar el Programa Jóvenes con Más y Mejor Trabajo (PJMMT) como parte de estas nuevas iniciativas, desde los múltiples sentidos que adquiere. En primer lugar, se rescatan brevemente los antecedentes del dispositivo al mismo tiempo que se realiza una caracterización de su lógica político-institucional. En una segunda instancia, se profundiza esta mirada analítica al indagar las tramas que despliegan múltiples actores e instituciones. Desde este lugar, nos proponemos señalar tanto las articulaciones novedosas como también los límites y contradicciones que surgen en el proceso de implementación de la política.Facultad de Humanidades y Ciencias de la Educació

El revés de la trama en los dispositivos de apoyo a la inserción laboral juvenil : Un análisis del Programa Jóvenes con Más y Mejor Trabajo

El presente artículo pone foco en analizar el Programa Jóvenes con Más y Mejor Trabajo (PJMMT) como parte de estas nuevas iniciativas, desde los múltiples sentidos que adquiere. En primer lugar, se rescatan brevemente los antecedentes del dispositivo al mismo tiempo que se realiza una caracterización de su lógica político-institucional. En una segunda instancia, se profundiza esta mirada analítica al indagar las tramas que despliegan múltiples actores e instituciones. Desde este lugar, nos proponemos señalar tanto las articulaciones novedosas como también los límites y contradicciones que surgen en el proceso de implementación de la política.Facultad de Humanidades y Ciencias de la Educació