Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report.

We report a case of Birt-Hogg-Dube syndrome (BHDS), a rare hereditary syndrome, the main visible sign of which is the development of multiple skin fibrofolliculomas. In our case, there was a manifestation of BHDS consisting in the absence of fibrofolliculomas and presence of other characteristic features of this syndrome: lung cysts and renal cancer. The 26-year-old woman was admitted to a clinic for diagnosis and treatment of a neoplasm of the left kidney and had a history of renal cell cancer (RCC) of the right kidney and spontaneous pneumothorax. Multiple tumors of the left kidney and lung cysts were observed upon clinical and laboratory testing. Tumors of the left kidney were resected and diagnosed by a pathologist as chromophobe RCC. Sequencing of FLCN exons 4-14 from blood DNA revealed the heterozygous germline nonsense mutation c.1429C>T (p.R477*), confirming the diagnosis of BHDS. Several somatic variants were detected by tumor DNA sequencing using the Comprehensive Cancer Panel and Ion S5 platform. Medical-genetic counseling was conducted, and follow-up management was outlined. To our knowledge, this case report is the first comprehensive clinical and genetic examination of a patient with BHDS in Russia. The p.R477* mutation has been described by other authors in patients with fibrofolliculomas and lung cysts, but not in those with RCC, while RCC was the first manifestation of BHDS in our case. The case report may help geneticists, oncologists, and other specialists to better understand the clinical and genetic heterogeneity of BHDS in various populations.

Does unconscious information affect cognitive activity?: a study using experimental priming.

In a series of three experiments the influence that information unrecognised by the subjects has on the effectiveness of occurring cognitive activity is studied. With this aim 3 types of stimulus were compared which for one reason or another were not afforded sufficient attention, namely: unconscious meanings of polysemantic information, stimuli presented at the subliminal level, and intentionally ignored distractors. All the listed types of stimuli are united in that the subjects were not able to give an account of them, i.e., these stimuli were not processed attentively. It is assumed that each of the types of stimuli studied is in actuality perceived, which can be judged by the impact they have on occurring cognitive activity. The purpose of the present research is the comparison of this impact: apart from the determination of the impact of unperceived stimuli on the information directly associated with them (priming-effect registration), also identified is the presence/absence of an overall interference effect rendered by the unperceived stimuli on the performance of occurring cognitive activity. To this end, each experiment had a control condition the aim of which was the creation of the possibility for the subjects to perceive stimuli unnoticed under experimental conditions. An experimental priming paradigm was used in combination with image-classification and lexical-decision tasks. The results of the experiments conducted demonstrate that all types of stimuli 'slipping the attention' are assimilated, but their effect on occurring cognitive activity is varied. Thus, subliminally presented information aids, and distractors, on the contrary, hinder the solution of tasks associated with them, whereas unperceived meanings of polysemantic information hinder not only the solution of the tasks directly associated with them, but also the performance of any other cognitive activity for which they serve as a context. The effect of subliminal stimuli on occurring cognitive activity in the present research is explained by the spreading activation in the memory, the effect of distractors--by the inhibition of irrelevant representations in the information-processing system. For an explanation of the consequence of unperceived meanings of polysemanticity, not only an inhibition model was used, but also an unconscious negative choice model which assumed the necessity of making a special decision on non-perception.

Does unconscious information affect cognitive activity?: a study using experimental priming

In a series of three experiments the influence that information unrecognised by the subjects has on the effectiveness of occurring cognitive activity is studied. With this aim 3 types of stimulus were compared which for one reason or another were not afforded sufficient attention, namely: unconscious meanings of polysemantic information, stimuli presented at the subliminal level, and intentionally ignored distractors. All the listed types of stimuli are united in that the subjects were not able to give an account of them, i.e., these stimuli were not processed attentively. It is assumed that each of the types of stimuli studied is in actuality perceived, which can be judged by the impact they have on occurring cognitive activity. The purpose of the present research is the comparison of this impact: apart from the determination of the impact of unperceived stimuli on the information directly associated with them (priming-effect registration), also identified is the presence/absence of an overall interference effect rendered by the unperceived stimuli on the performance of occurring cognitive activity. To this end, each experiment had a control condition the aim of which was the creation of the possibility for the subjects to perceive stimuli unnoticed under experimental conditions. An experimental priming paradigm was used in combination with image-classification and lexical-decision tasks. The results of the experiments conducted demonstrate that all types of stimuli 'slipping the attention' are assimilated, but their effect on occurring cognitive activity is varied. Thus, subliminally presented information aids, and distractors, on the contrary, hinder the solution of tasks associated with them, whereas unperceived meanings of polysemantic information hinder not only the solution of the tasks directly associated with them, but also the performance of any other cognitive activity for which they serve as a context. The effect of subliminal stimuli on occurring cognitive activity in the present research is explained by the spreading activation in the memory, the effect of distractors - by the inhibition of irrelevant representations in the information-processing system. For an explanation of the consequence of unperceived meanings of polysemanticity, not only an inhibition model was used, but also an unconscious negative choice model which assumed the necessity of making a special decision on non-perception (AU)

En una serie de tres experimentos se estudió la influencia que tiene la información no reconocida por los participantes en la efectividad de la actividad cognitiva concurrente. Con este objetivo, se compararon 3 tipos de estímulos que por una razón u otra, no obtenían suficiente atención, como: significados no conscientes de información poli-semántica, estímulos presentados a nivel subliminal, y distractores ignorados intencionalmente. Todos los tipos de estímulos mencionados tienen en común que los sujetos no eran capaces de percatarse de ellos, i.e., estos estímulos no se procesaban atentamente. Se asume que cada uno de los tipos de estímulos estudiados es percibido, lo que puede juzgarse por el impacto que tienen en la actividad cognitiva concurrente. El propósito de esta investigación es la comparación de este impacto: además de la determinación del impacto de estímulos no percibidos en la información directamente asociada a ellos (registro del efecto de facilitación), también se identifica la presencia/ausencia de un efecto global de interferencia de los estímulos no percibidos en el en el desempeño de la actividad cognitiva concurrente. Hasta este punto, cada experimento tuvo una condición de control cuyo objetivo era crear la posibilidad de que los sujetos percibieran los estímulos no percatados bajo las condiciones experimentales. Se utilizó un paradigma experimental de priming en combinación con tareas de clasificación de imágenes y de decisión léxica. Los resultados de los experimentos realizados demuestran que todos los tipos de estímulos que ôescapaban a la atenciónö eran asimilados, pero su efecto en la actividad cognitiva concurrente variaba. Por tanto, la información presentada de forma subliminal facilita, y los distractores, al contrario, retrasan la solución de tareas asociadas a ellos, mientras que los significados no percibidos de la información poli semántica retrasan no sólo la solución de tareas directamente asociadas a ellos, pero también el desempeño de cualquier otra actividad cognitiva para la que sirvan como contexto. El efecto de estímulos subliminales en la actividad cognitiva concurrente de esta investigación se explica por la propagación de la activación en memoria, el efecto de los distractores -por la inhibición de representaciones irrelevantes en el sistema de procesamiento de información. Para daruna explicación de la consecuencia de significados de poli semántica no percibidos, no sólo se ha utilizado un modelo de inhibición sino también un modelo de decisión negativa inconsciente que asume la necesidad de tomar una decisión especial en no-percepción (AU)