Comparación de 3 modos de ventilación mecánica en colecistectomía laparoscópica / Comparison of 3 mechanical ventilation modes in laparoscopic cholecystectomy

Resumen: El modo ventilatorio asistido durante un procedimiento laparoscópico aún es controversial. Objetivo: Comparar la dinámica ventilatoria según el modo de ventilación asistida: por ventilación controlada por volumen (VCV), controlada por presión (VCP) o por presión con garantía de volumen (VCP-GV), en anestesia para colecistectomía laparoscópica. Material y métodos: 21 pacientes adultos manejados con una de las tres modalidades (7 por grupo). Se analizó durante el procedimiento (a la intubación, la insuflación de CO2 intraabdominal y resolución), su frecuencia respiratoria, el volumen espiratorio, CO2 al final de la espiración (EtCO2), presión pico vía aérea, presión media pulmonar, distensibilidad, saturación de oxígeno y volumen minuto respiratorio. Resultados: Posterior a la intubación, no hubo diferencias clínicas importantes en las mediciones entre los modos de ventilación. A la insuflación los pacientes con modo VCP incrementaron su frecuencia respiratoria, pero conservaron su presión pico; contra aquéllos en modo VCV y VCP-GV que incrementaron su presión pico con escasa reducción de su frecuencia respiratoria. Las otras variables no se modificaron durante el procedimiento y no hubo diferencias entre los modos ventilatorios. Conclusión: Los tres modos de ventilación permitieron un buen control ventilatorio con pocas diferencias respecto a parámetros basales, pero sugerimos que el modo VCP previene mejor los aumentos en la presión pico.

Abstract: The assisted ventilatory mode during a laparoscopic procedure is still controversial. Objective: To compare ventilatory dynamics according to the assisted ventilation mode: by volume-controlled ventilation (VCV), pressure-controlled (PCV) or by pressure with volume guarantee (PVC-VG), in general anesthesia for laparoscopic cholecystectomy. Material and methods: 21 adult patients managed with one of the three modalities (seven per group). Their respiratory rate, minute expiratory volume, end tidal CO2 (EtCO2), peak airway pressure, mean pulmonary pressure, compliance, oxygen saturation and minute respiratory volume were analyzed during the procedure (at intubation, abdominal CO2 insufflation and resolution). Results: After intubation there were no clinical differences in measurements between ventilation modes. On insufflation, patients with PCV mode increased their respiratory rate, but kept their peak pressure; against those in VCV and PCV-VG mode who increased their peak pressure with little reduction in their respiratory rate. The other variables were not modified during the procedure and there were no differences between the ventilatory modes. Conclusion: The three modes of ventilation allowed a good ventilatory control, but we suggest the PCV since it prevents an increase in peak pressure.

Mutação de novo no gene DEAF1 e sua relação com o autismo: estudo de caso / De novo mutation in the DEAF1 gene and its relation to autism: a case study / Mutación de nuevo en el gen DEAF1 y su relación con el autismo: estudio de caso

Objetivo: Analisar as implicações, impactos e o desenvolvimento de um indivíduo diagnosticado com TEA e portador da mutação de novo no gene DEAF1, a partir das várias perspectivas de intervenções realizadas. Método: Trata-se de um estudo descritivo com histórico dos tratamentos, resultados laboratoriais e genéticos mais recentes do paciente. Resultados: Sintomas notados aos 2 anos e diagnóstico específico aos 5. Aos 8 anos teve a primeira crise convulsiva tônico-clônica e o Eletroencefalograma alterado. Após obteve o diagnóstico molecular confirmado. Possuía epilepsia refratária de difícil controle, que houve piora com uma tentativa do uso de derivados canabinoides em conjunto com estimulação elétrica transcraniana. No momento, com os tratamentos, atendimentos multidisciplinares, dieta de exclusão de alérgenos e medicações de controle individual, diminuíram a intensidade das crises epiléticas e houve melhor controle do seu estado geral. Conclusão: Este estudo descreve como a mutação de novo no gene DEAF1 está relacionada com o TEA e com o comprometimento do desenvolvimento neurocognitivo. As terapias e métodos devem respeitar cada paciente na sua individualidade.

Objective: To analyze the implications, impacts and development of an individual diagnosed with ASD and carrying a de novo mutation in the DEAF1 gene, from the various perspectives of interventions performed. Method: This is a descriptive study, with the patient's history of treatments, and most recent laboratory and genetic results.Results: Symptoms were noticed at 2 years old and specific diagnosis at 5. At 8 years old he had his first tonic-clonic seizure and the electroencephalogram was altered. After, it was obtained the confirmed molecular diagnosis. He had refractory epilepsy that was difficult to control and aggravated with an attempt to use cannabinoid derivatives in conjunction with transcranial electrical stimulation. At the moment, treatments, multidisciplinary care, allergen exclusion diet and individual control medications, reduced the intensity of epileptic seizures and there was better control of his general condition. Conclusion: This study describes how the de novo mutation in the DEAF1 gene is related to ASD and neurocognitive development impairment. Therapies and methods must respect each patient in their individuality.

Objetivo: Analizar las implicaciones, impactos y desarrollo de un individuo diagnosticado de TEA y portador de una mutación de novo en el gen DEAF1, desde las distintas perspectivas de las intervenciones realizadas. Método: Este es un estudio descriptivo, con el historico de tratamientos del paciente y los resultados genéticos y de laboratorio más recientes. Resultados: Los síntomas se notaron a los 2 años y el diagnóstico específico a los 5. A los 8 años tuvo su primera crisis tónico-clónica y se alteró el electroencefalograma. Posteriormente se obtuvo el diagnóstico molecular confirmado. Tenía epilepsia refractaria que era difícil de controlar y se agravaba con un intento de utilizar derivados cannabinoides junto con estimulación eléctrica transcraneal. En el momento, los tratamientos, la atención multidisciplinar, la dieta de exclusión de alérgenos y los medicamentos de control individual, redujeron la intensidad de las crisis epilépticas y hubo un mejor control de su estado general. Conclusión: Este estudio describe cómo la mutación de novo en el gen DEAF1 se relaciona con el TEA y el deterioro del desarrollo neurocognitivo. Las terapias y los métodos deben respetar a cada paciente en su individualidad.

Association of polymorphisms within the Renin-Angiotensin System with metabolic syndrome in a cohort of Chilean subjects

ABSTRACT Objective Metabolic syndrome (MetS) is associated with hypertension, obesity and dyslipidemia. Thus, genetic variants related with these conditions may modulate its development. We evaluated the effect of polymorphisms in the renin-angiotensin system (RAS) on metabolic syndrome risk in a cohort of Chilean subjects. Subjects and methods A total of 152 subjects, 83 with MetS (51.2 ± 9.6 years) and 69 without MetS (49.5 ± 9.3 years) of both genders were included, according to the ATP III update criteria. The rs4340 Insertion/Deletion (I/D), rs699 (T>C) and rs5186 (A>C) of the ACE, AGT and AGTR1 genes, respectively, were genotyped. Results After adjusting for age and gender, we observed the DD genotype of rs4340 associated with MetS (p = 0.02). Specifically, the DD genotype was associated with MetS risk in women (OR = 4.62, 95%CI, 1.41 – 15.04; p < 0.01). In males, the AA genotype for rs5186 variant was associated with an increased risk for developing MetS when compared with women carrying the same genotype (OR = 3.2; 95%CI, 1.03 – 9.89; p = 0.04). In subjects without MetS, DD genotype was associated with increased waist circumference (p = 0.023) while subjects with MetS carrying the rs5186 TT genotype showed higher levels of HDL-cholesterol (p = 0.031). Conclusion The present study contributes data highlighting the role for RAS polymorphisms in predisposing to metabolic syndrome in Chilean subjects.

Ecological niche models and patterns of richness and endemism of the southern Andean genus Eurymetopum (Coleoptera, Cleridae) / Modelos de nicho ecológico y patrones de riqueza y endemismo del género andino austral Eurymetopum (Coleoptera, Cleridae)

Eurymetopum is an Andean clerid genus with 22 species. We modeled the ecological niches of 19 species with Maxent and used them as potential distributional maps to identify patterns of richness and endemicity. All modeled species maps were overlapped in a single map in order to determine richness. We performed an optimality analysis with NDM/VNDM in a grid of 1º latitude-longitude in order to identify endemism. We found a highly rich area, located between 32º and 41º south latitude, where the richest pixels have 16 species. One area of endemism was identified, located in the Maule and Valdivian Forest biogeographic provinces, which extends also to the Santiago province of the Central Chilean subregion, and contains four endemic species (E. parallelum, E. prasinum, E. proteus, and E. viride), as well as 16 non-endemic species. The sympatry of these phylogenetically unrelated species might indicate ancient vicariance processes, followed by episodes of dispersal. Based on our results, we suggest a close relationship between these provinces, with the Maule representing a complex area.

Eurymetopum es un género de cléridos andinos con 22 especies. Modelamos los nichos ecológicos de 19 especies con Maxent y los utilizamos como mapas de distribución potencial para identificar patrones de riqueza y endemismo. Todos los mapas de las especies se superpusieron en un mapa único para determinar la riqueza. Realizamos un análisis de optimalidad con NDM/VNDM en una cuadrícula de 1º de latitud-longitud para identificar el endemismo. Hallamos un área de mayor riqueza, localizada entre los 32º y 41º de latitud sur, donde los pixeles más ricos poseen 16 especies. Se identificó un área de endemismo en las provincias biogeográficas del Maule y el Bosque Valdiviano, la cual se extiende también a la provincia de Santiago de la subregión Chilena Central, y que contiene cuatro especies endémicas (E. parallelum, E. prasinum, E. proteus y E. viride), así como 16 especies no endémicas. La simpatría de estas especies filogenéticamente no relacionadas podría indicar antiguos procesos de vicarianza, seguidos de episodios de dispersión. Con base en nuestros resultados, sugerimos una relación cercana entre estas provincias, representando el Maule un área compleja.