Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1,000,000 in humans per year, typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutation in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. Familial CJD is transmitted with an autosomal dominant inheritance pattern with high penetrance. Worldwide, the most common mutation is E200K (glutamate to lysine). We report four families with CJD assisted in Neuquén Hospital in 2018. Three of the four index cases had family history of neurological and psychiatric illness, though data was not taken into consideration at the moment of evaluation of the new cases. The most significant data recorded for a genetic consultation was when the problem had started, and it was required by a neurologist. The initial symptoms were persistent insomnia and depression with poor response to habitual psychiatric medication. Impoverishment is fast with visual disorder, myoclonias, ataxia, dementia and loss of language. Pedigree analysis allowed the identification of 144persons with the gene potential, who can develop the disease at any time in their adulthood. In all cases, mutation E200K was identified. There is a region of increased frequency of CJD. There must be suspicion on patients with neuropsychiatric symptoms and suspected family history(familiar background). Finding of the mutation confirms the diagnosis in patients and allows the identification on pre-symptomatic individuals. Challenge is posed on gene advice and to avoid iatrogenic disorder transmission.

La enfermedad de Creutzfeldt-Jakob (CJD) es un desorden neurodegenerativo poco frecuente con una incidencia estimada en 1 por cada 1.000.000 por año, típicamente caracterizado por demencia rápidamente progresiva, ataxia, mioclonus y cambios de comportamiento. Las enfermedades genéticas priónicas se desarrollan debido a mutaciones en el gen de proteína priónica PRNP. Entre el 10 y el 15% corresponden a formas familiares que se transmiten con patrón autosómico dominante con alta penetrancia. La mutación más frecuente a nivel mundial es la E200K (glutamato por lisina). Se reportan cuatro familias con CJD que fueron atendidas en el Hospital Provincial Neuquén en el año 2018. Tres de los cuatro casos índice tenían historia familiar de trastornos neurológicos y psiquiátricos pero estos datos no fueron jerarquizados en la evaluación inicial del caso. Se consideró la consulta genética por la edad temprana de presentación de la enfermedad. En todos los casos la consulta fue solicitada por el neurólogo. Los síntomas iniciales que presentaron los pacientes fueron insomnio pertinaz y depresión con pobre respuesta a la medicación psiquiátrica habitual. En todos los casos la progresión de la enfermedad fue rápida con desórdenes visuales, mioclonías, ataxia, demencia y pérdida del lenguaje. El análisis de los pedigrees permitió identificar ciento cuarenta personas que potencialmente podrían portar el gen y desarrollar la enfermedad en algún momento de la vida adulta. En todos los casos se identificó la mutación E200K. En la región existe una frecuencia aumentada de CJD. Debe ser investigada en los pacientes con síntomas neuropsiquiátricos e historia familiar sospechosa. Los estudios genéticos confirman el diagnóstico en los pacientes y permite identificarlos en individuos en etapa presintomática. Esto plantea un desafío para el asesoramiento genético familiar y para evitar la transmisión iatrogénica del trastorno.

Anatomic variations of the hepatic artery, which occur in 30 to 50% of patients, are a very important factor to be considered for Whipple procedure. The most common variations are those coming from the superior mesenteric artery, left gastric artery and the aorta. We report a 58-year-old woman with a story of one month of epigastric pain, jaundice and progressive itching. Magnetic resonance imaging showed a mass in the head of the pancreas. During pancreatoduodenectomy a left hepatic artery (LHA) emerging from the gastroduodenal artery and an accessory LHA emerging from the left gastric artery, were observed. The rest of the surgery was performed with no incidents. The patient had an uneventful postoperative evolution.

Este trabalho trata do projeto e construção de uma plataforma para a realização de ensaios dinâmicos especialmente com pessoas pulando, caminhando, etc. Procurou-se inicialmente localizar projetos já executados de plataformas de ensaios dinâmicos e estudar os carregamentos produzidos pelo movimento de pessoas em lajes e a resposta das estruturas a esses carregamentos. Foram estudados também os limites estabelecidos por diferentes normas para essas respostas dinâmicas, tendo em vista tanto o estado limite último como a estrutura em serviço, já que o corpo humano é bastante sensível às vibrações estruturais. Realizaram-se estudos paramétricos considerando várias configurações de lajes (diferentes vãos, espessuras e condições de apoio), buscando uma configuração que possuísse frequência natural próxima das frequências dos carregamentos humanos. A laje deveria ter dimensões apropriadas ao espaço físico disponível, frequência fundamental inferior a 5 Hz e flecha máxima instantânea compatível com as indicações da norma brasileira NBR6118:2007. Com base em esses critérios foi escolhida uma laje retangular maciça de concreto armado engastada em duas bordas opostas em vigas metálicas com conectores de cisalhamento tipo U. As outras duas bordas são livres. As vigas metálicas de apoio da laje, por sua vez, apóiam-se sobre 8 perfis metálicos (dois em cada canto da laje) que se apóiam dois a dois sobre colunas curtas de aço de perfil H. Perfis U de aço são soldados às quatro colunas, formando um quadro horizontal. Foram realizadas análises numéricas da plataforma de ensaios dinâmicos em vibração livre e forçada para obter as frequências naturais e os modos de vibração correspondentes, considerando o peso próprio da estrutura e o carregamento que simula o peso das pessoas. Obtida uma configuração de estrutura que cumprisse com os requisitos estipulados, foi feito o dimensionamento da laje levando-se em conta as recomendações da norma brasileira NBR6118:2007. A plataforma foi construída e já foi feito um estudo preliminar experimental para obtenção das primeiras frequências naturais.

This paper is about the design and construction of a platform for dynamic tests especially with people jumping, walking, etc. Initially it was tried to find out projects already implemented in platforms and dynamic tests and to study the loads produced by movement of people on slabs and the structural response to these loads. The limits established by different standards have been also studied for these dynamic responses, taking into account the ultimate limit state, as well as the structure in service, since the human body is very sensitive to structural vibrations. Parametric studies were performed considering various configurations of slabs (different spans, thicknesses and conditions of support) have been done, looking for a configuration that could have natural frequency close to the frequencies of the human loads. The slab should have dimensions compatible with the available physical space, fundamental frequency below 5 Hz and maximum immediate deflection compatible with the indications of the Brazilian standard NBR6118: 2007. Based on these criteria was chosen a rectangular structure consists of a solid reinforced concrete rectangular slab studded in two opposite edges of steel beams with shear connectors type U. The other two edges are free. The steel beams supporting the slab, in turn, are supported on eight metal profiles (two in each corner of the slab) that are supported on two to two short columns of steel profile H. Profiles U in steel are welded to four columns, forming a horizontal frame. Numerical analysis of the dynamic test platform have been performed for free and forced vibration, for obtaining the natural frequencies and corresponding vibration modes, considering the self-weight of the structure and the load that simulates people's weight. After obtaining a structural configuration that fulfilled the stipulated requirements, the design of the slab taking into account the recommendations of the Brazilian standard NBR6118: 2007. The platform was built and has been done a preliminary experimental study to obtain the first natural frequencies.

Self-report, the report by parents and the report by classmates of self-controlled behavior were examined for 20 children. These children also participated in a computer-based self-control task in which each subject was exposed to a 32-s time cycle (T cycle) in which a video was presented during the last 8 s (S R1) of the cycle. The video could be presented for another 8 s once the T cycle elapsed (S R2), but only if the child did not try and reproduce S R1. If the child attempted to do so, S R1 was interrupted and the S R2 presentation was cancelled. Reliable correlations were found between parents and classmates reports for both, self-controlled and impulsive behavior of children. However, the performance of the children in the computer-based self-controlled task was independent of self-reports or the reports by parents or classmates. The findings are related to the study of self-controlled behavior defined as refraining from consuming a reward until a predetermined criterion is reached.

Se investigó la relación entre el auto-reporte, el reporte de los padres y el de los compañeros de clase de la conducta autocontrolada e impulsiva de 20 niños. Los niños también trabajaron en una tarea de autocontrol por computadora, en la cual cada uno fue expuesto a un ciclo de tiempo repetitivo (ciclo T) y se presentó un video durante los últimos ocho segundos (E R1) del ciclo. El video se pudo presentar por otros ocho segundos, una vez que concluía el ciclo (E R2) de acuerdo a la siguiente contingencia: tratar de reproducir el E R1 lo interrumpió y canceló la presentación del E R2. En caso contrario, se pudo reproducir el E R2. Se encontraron correlaciones positivas y confiables entre la opinión de los padres y la de los compañeros, tanto respecto de la conducta autocontrolada como la impulsiva de los niños. Sin embargo, la ejecución de los niños en la tarea por computadora fue independiente de los auto-reportes, de los reportes de los padres o de los compañeros de clase. La discusión está enfocada en la relevancia de estos hallazgos para el estudio de la conducta autocontrolada definida como abstenerse de consumir una recompensa presente hasta que se cumpla un criterio de espera preestablecido.

Background: propofol is a hypnotic used with increasing frequency for sedation during endoscopic procedures. Most of the reports published related with its employment by non-anaesthesiologists, refers to basic endoscopy, with little reference to its use in advanced endoscopy. Objective: to evaluate the efficacy and safety of propofol sedation administered by endoscopists, while performing percutaneous endoscopic gastrostomy, an advanced technique that is usually performed in high anesthetic level risk patients. Material and methods: prospective study of a series of endoscopic gastrostomy performed consecutively in our department; the sedation was carried out exclusively with propofol. The staff in the room consisted of two medical gastroenterologists, a nurse and a nursing assistant. Propofol was administered by bolus doses adjusted to patient weight. Arterial oxygen saturation, heart rate and blood pressure were monitored; respiratory activity was monitored visually by observing respiratory excursions of the patient. Results: we included 47 patients, with an average age of 82 years. 87% were ASA III and the rest, ASA IV. The mean dose of propofol was 51 mgr. Complications were recorded: 8 cases of desaturation and two of hypotension, all of them minor and quickly reversible. All procedures were carried out successfully, at a median time of 8 minutes. Conclusion: the propofol sedation carried out by non-anaesthesiologist trained staff, seems to appear as a safe and effective procedure while performing percutaneous endoscopic gastrostomy.

Introducción: el propofol es un hipnótico usado cada vez con más frecuencia para la sedación durante procedimientos endoscópicos. La mayor parte de los trabajos publicados en relación con su empleo por personal no anestesista se refiere a exploraciones de endoscopia básica, siendo escasas las referencias a su empleo en endoscopia avanzada. Objetivo: valorar la eficacia y la seguridad de la sedación mediante propofol administrado por endoscopistas, durante la realización de gastrostomía endoscópica percutánea, técnica avanzada y generalmente aplicada sobre pacientes de riesgo anestésico alto. Material y métodos: estudio prospectivo de una serie de gastrostomías endoscópicas realizadas consecutivamente en nuestro servicio; las sedaciones se llevaron a cabo exclusivamente con propofol. El personal presente en la sala consistió en dos médicos gastroenterólogos, una enfermera y una auxiliar de enfermería. El propofol se administró en bolos, ajustando las dosis al peso de los pacientes. Se monitorizaron la saturación arterial de oxígeno, la frecuencia cardiaca y la tensión arterial. La actividad respiratoria se controló de forma visual mediante la observación de las excursiones respiratorias de los enfermos. Resultados: se incluyeron 47 pacientes, con una edad media de 82 años. El 87% fueron ASA III y el resto ASA IV. La dosis media de propofol fue de 51 mg. Como complicaciones se registraron 8 casos de desaturación y dos de hipotensión, todas leves y rápidamente reversibles. Todos los procedimientos se llevaron a cabo satisfactoriamente, en un tiempo medio de 8 minutos. Conclusión: la sedación mediante propofol llevada a cabo por personal entrenado no anestesista parece mostrarse como un método seguro y eficaz durante la realización de gastrostomía percutánea endoscópica.

Introduction: reexposure to a causal agent represents a potentially serious event in hepatotoxicity. Objectives: to assess the characteristics and outcome of cases with positive reexposure. Material and methods: a retrospective study of cases with evidence of positive reexposure included in Registro Español de Hepatopatías Asociadas a Medicamentos, and an analysis of their relation to demographic and clinical variables, causality, course, and consequences. Results: of a total of 520 cases 31 (6%) met reexposure criteria. Fatal outcomes, needs for admission, and mean recovery time were all higher for hepatocellular-type toxic injury. The most commonly identified drug class was antibiotics. On most occasions (73%) reexposure to the causal compound escaped notice because of: absence of index case diagnosis, lack of information to patients and their physicians, and (12%) development of cross reactions between structurally similar drugs. Conclusions: accidental reexposure to a drug or a structurally-related compound after an initial hepatotoxicity event is common and may have serious consequences, particularly in hepatocellular-type toxicity. Careful history taking and reflecting diagnostic suspicion in the initial episode’s record may reduce the incidence of this iatrogenic event.

Introducción: la reexposición al agente causal constituye un incidente potencialmente grave en hepatotoxicidad. Objetivos: evaluar las características y la evolución de los casos con reexposición positiva. Material y métodos: estudio retrospectivo de una serie de casos con evidencia de reexposición positiva incluidos en el Registro Español de Hepatopatías Asociadas a Medicamentos, analizando su relación con variables demográficas y clínicas, causalidad, evolución y consecuencias. Resultados: de un total de 520 casos, 31 (6%) cumplían los criterios de reexposición. La evolución fatal, la necesidad de hospitalización y el tiempo medio de recuperación fueron mayores en la lesión tóxica de tipo hepatocelular. El grupo farmacológico identificado con mayor frecuencia fue el de los antibióticos. En la mayoría de los casos la reexposición con el compuesto responsable fue inadvertida (73%) debido a: la ausencia de diagnóstico del caso índice, la carencia de información al paciente o a su médico y también (12%) por el desarrollo de una reacción cruzada entre fármacos estructuralmente similares. Conclusiones: la reexposición accidental a un mismo fármaco o a otro estructuralmente relacionado tras un primer episodio de hepatotoxicidad no es infrecuente y sus consecuencias pueden ser graves, especialmente en el tipo de lesión hepatocelular. Una minuciosa historia clínica y la sospecha diagnóstica reflejada en el informe del primer episodio podrían disminuir la incidencia de este evento iatrogénico.

The native oyster Crassostrea corteziensis is a cultured species along the Mexican Pacific with considerable growth potential. For this reason CIBNOR is working towards obtaining greater knowledge that can be used in the future to begin a selective breeding program. To take advantage of the potential of using multiple populations, the genetic diversity and structure of the wild population was analyzed. Samples were obtained from five sites from Sonora to Nayarit in the Gulf of California (Mexico). Allozyme analysis showed high gene flow in the area, indicating no genetic structure. High genetic diversity was also observed, indicating an adequate potential for selective breeding and species recovery management. Allozyme and mitochondrial DNA analyses revealed the presence of a sympatric species, presumably C. columbiensis, which was found at one of the collection sites instead of C. corteziensis. Further ecological and molecular studies on both species are recommended to understand the relationships between them and the environment.

El ostión de placer Crassostrea corteziensis es una especie que se cultiva en las costas del Pacífico mexicano con amplio potencial de desarrollo. Por ello, CIBNOR está realizando estudios para profundizar en su conocimiento para el futuro desarrollo de un programa de reproducción selectiva. Con el fin de indagar la potencial utilización de múltiples poblaciones para el cultivo, se llevó a cabo un análisis de diversidad y estructura genética de la población natural. Se obtuvieron muestras de cinco localidades entre Sonora y Nayarit, en el Golfo de California. El análisis con alozimas mostró un amplio flujo genético en el área de estudio que indica que la población no se encuentra estructurada. La gran diversidad genética observada indica un importante potencial de manejo tanto para la selección como para la recuperación de los stocks naturales. Los análisis basados en alozimas y ADN mitocondrial revelaron la presencia de una especie simpátrica, presumiblemente C. columbiensis. Se recomiendan estudios ecológicos y moleculares para entender las relaciones entre estas dos especies, así como las de éstas con las variables ambientales.