Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.

Joubert syndrome is a rare disorder, usually autosomal recessive, with a prevalence of 1:80 000 to 1:100 000. This disease presents most commonly as breathing irregularities, although the two major clinical criteria are hypotonia and developmental delay, sometimes associated with ocular movement abnormalities. The severity of the presentation varies, ranging from mild cases with normal intelligence to severe developmental delays associated with early death. We report a case of a newborn who presented to the emergency department for absent ocular fixation and torsional nystagmus without other neurological abnormalities. Her cranial MR showed cerebellar vermis agenesis and a molar tooth sign. Her laboratory evaluation, and renal and abdominal ultrasound were normal. An electroretinogram showed mixed retinal dystrophy and an AHI1 homozygous missense c.1981T>C mutation was identified (parents are carriers). Throughout infancy, she has shown mild developmental delay and hypotonia, but no respiratory abnormalities. Owing to variable expressivity, a high level of suspicion is required

Condroblastoma de astrágalo: localización inusual

Se expone 1 caso de un condroblastoma de astrágalo en 1 paciente de 17 años. Esta tumoración, definida como tal en 1942 por Jaffe y Lichtenstein, presenta un comportamiento benigno que responde al tratamiento mediante curetaje e injerto óseo de la cavidad. A pesar de este comportamiento benigno se hace mención a la posibilidad de metástasis pulmonares y a la agresividad local en algunos casos.A 17-year-old man with chondroblastoma of the talus is reported. This tumor described in 1942 by Jaffe and Lichtenstein has a benign behavior and a good response to surgical treatment by curetage of the cavity and bone graft. In certain cases local aggresivity and lung metastasis has been described

Caso clínico : Herpesvirosis en tortuga de desierto americano (Gopherus agasizii)

Se describe un caso de herpesvirosis sistémica en una tortuga de desierto americana. La identificación viral se realiza en cavidad nasal, bronquios, sacos aéreos, hígado y bazo. La afectación septicémica de las lesiones contrasta con los signos más localizados descritos hasta ahora de herpesvirosis en esta especie de tortuga. Histológicamente se describe una rinitis, hepatitis necrotizante, neumonía focal necrotizante y esplenitis. También se describen las características víricas observadas en hígado y cavidad nasal. Este caso representa la primera cita de esta enfermedad en una tortuga de esta especie en España, de modo que se remarcan las precauciones que se deben tomar ante la introducción de este tipo de enfermedades infectocontagiosas en colecciones zoológicas o centros de recuperación de fauna.A case of herpesvirosis in a american desert tortoise (Gopherus agasizii) is presented. Viral identification is described in nasal cavity, aerian sacs, liver and spleen. In contrast with the local signs described to date in herpesvirosis, in our case a septicemic distribution is noted. Microscopically, a rhinitis, necrotizant hepatitis, focal pneumonia and esplenitis are the major signs observed. Viral characteristics in liver and nasal cavity are also exposed. This case is the first report of herpesvirosis in Gopherus agasizii in Spain. Profilactic measures are very important to prevent the introduction of this disease in Zoo Gardens or Wildlife Rehabilitation Centers

A 1-m Foucault pendulum rolling on a ball

We have built a short Foucault pendulum of 1-m length. The aim of this work was to increase the sensitivity to elliptical trajectories from other longer pendula. The design was a semi-rigid pendulum that rolls over a small ball. The measurements of the movements (azimuth and elliptical trajectory) were done by an optical method. The resulting pendulum works in a medium satisfactory way due to problems of the correct choice of the mass of the bob together with the diameter of the supporting ball. It is also important to keep the rolling surface very clean.Fil: Salva, Horacio Ramon. Comision Nacional de Energia Atomica. Gerencia del Area Investicaciones y Aplicaciones No Nucleares; Argentina;Fil: Benavides, R.E.. Comision Nacional de Energia Atomica. Gerencia D/area Invest y Aplicaciones No Nucleares. Gerencia de Fisica (cab). Grupo de Fisica de Metales; Argentina;Fil: Venturino, J. A.. Comision Nacional de Energia Atomica. Gerencia D/area Invest y Aplicaciones No Nucleares. Gerencia de Fisica (cab). Grupo de Fisica de Metales;Fil: Cuscueta, Diego Javier. Comision Nacional de Energia Atomica. Gerencia del Area Investicaciones y Aplicaciones No Nucleares; Argentina;Fil: Ghilarducci,. Comision Nacional de Energia Atomica. Gerencia del Area Investicaciones y Aplicaciones No Nucleares; Argentina

Machine-Readable Privacy Certificates for Services

Privacy-aware processing of personal data on the web of services requires managing a number of issues arising both from the technical and the legal domain. Several approaches have been proposed to matching privacy requirements (on the clients side) and privacy guarantees (on the service provider side). Still, the assurance of effective data protection (when possible) relies on substantial human effort and exposes organizations to significant (non-)compliance risks. In this paper we put forward the idea that a privacy certification scheme producing and managing machine-readable artifacts in the form of privacy certificates can play an important role towards the solution of this problem. Digital privacy certificates represent the reasons why a privacy property holds for a service and describe the privacy measures supporting it. Also, privacy certificates can be used to automatically select services whose certificates match the client policies (privacy requirements). Our proposal relies on an evolution of the conceptual model developed in the Assert4Soa project and on a certificate format specifically tailored to represent privacy properties. To validate our approach, we present a worked-out instance showing how privacy property Retention-based unlinkability can be certified for a banking financial service.Comment: 20 pages, 6 figure

Ketone bodies for the failing heart:fuels that can fix the engine?

Accumulating evidence suggests that the failing heart reverts energy metabolism toward increased utilization of ketone bodies. Despite many discrepancies in the literature, evidence from both bench and clinical research demonstrates beneficial effects of ketone bodies in heart failure. Ketone bodies are readily oxidized by cardiomyocytes and can provide ancillary fuel for the energy-starved failing heart. In addition, ketone bodies may help to restore cardiac function by mitigating inflammation, oxidative stress, and cardiac remodeling. In this review, we hypothesize that a therapeutic approach intended to restore cardiac metabolism through ketone bodies could both refuel and ‘repair’ the failing heart

Nocardiosis en un perro

Se describe un caso de nocardiosis en un perro. Se presentan y discuten el cuadro clínico y los hallazgos microbiológicos, ana tomo patológicos e histopatológicos.A case of canine nocardiosis is described. Its clinical, microbiological, pathological and histopathological findings are presented and discussed

Composição química de café conilon (Coffea canephora).

O objetivo neste trabalho foi estudar a composição química de um grupo de clones de Coffea canephora pertencentes ao programa de pesquisa em melhoramento genético da espécie no Instituto Capixaba de Pesquisa e Extensão Rural - Incaper, no Estado do Espírito Santo. Foram avaliados, em 49 clones, os teores de cafeína, trigonelina, ácidos clorogênicos e sólidos solúveis totais. Verificou-se a existência de expressiva variação entre os diferentes clones analisados, com valores extremos variando entre de 1,51 a 2,64% para cafeína; de 0,64 a 1,30% para trigonelina; de 3,61 a 5,64% para ácidos clorogênicos e de 29,36 a 36,36% para sólidos solúveis. Esses resultados indicam a existência de variabilidade genética para as características estudadas, bem como a possibilidade de seleção de plantas possuidoras de características qualitativas de maior interesse comercial

Therapeutic Potential of Ketone Bodies for Patients With Cardiovascular Disease JACC State-of-the-Art Review

Metabolic perturbations underlie a variety of cardiovascular disease states; yet, metabolic interventions to prevent or treat these disorders are sparse. Ketones carry a negative clinical stigma as they are involved in diabetic ketoacidosis. However, evidence from both experimental and clinical research has uncovered a protective role for ketones in cardiovascular disease. Although ketones may provide supplemental fuel for the energy-starved heart, their cardiovascular effects appear to extend far beyond cardiac energetics. Indeed, ketone bodies have been shown to influence a variety of cellular processes including gene transcription, inflammation and oxidative stress, endothelial function, cardiac remodeling, and cardiovascular risk factors. This paper reviews the bioenergetic and pleiotropic effects of ketone bodies that could potentially contribute to its cardiovascular benefits based on evidence from animal and human studies.Salva R.Yurista, Cher-RinChong, Juan J.Badimon, Daniel P.Kelly, Rudolf A.de Boer, B. Daan Westenbrin