Narcolepsia secundaria a enfermedad rara y fatal / Narcolepsy secondary to a rare fatal disease

Introducción: La ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation) es una enfermedad rara, con escasamente dos centenas de casos documentados hasta la fecha, que se inicia en niños previamente sanos y en la que el primer signo suele ser la obesidad, seguido de una disfunción hipotalámica y trastornos respiratorios del sueño, que progresan rápidamente hasta el fallecimiento del paciente. La ROHHAD con narcolepsia es aún más infrecuente, con sólo dos casos descritos hasta el momento. Caso clínico: Niño que, desde los 5 años, presenta señales de obesidad y somnolencia. A los 7 años sufre dos crisis tonicoclónicas y, durante los cuatro años siguientes, muestra síntomas y signos propios de una disfunción hipotalámica importante, por lo que, tras múltiples pruebas, se le diagnosticó ROHHAD. A pesar de los múltiples tratamientos recibidos, el paciente falleció a los 11 años de edad. Conclusión: Es necesario aclarar la fisiopatología de esta enfermedad para poder investigar futuros tratamientos que resulten eficaces.(AU)

Introduction: ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation) is a rare disease, with only about two hundred cases reported to date, that starts in previously healthy children. The first sign is usually obesity, followed by hypothalamic dysfunction and sleep-disordered breathing, which rapidly progresses until the death of the patient. ROHHAD with narcolepsy is even rarer, with only two cases described so far. Case report: We report the case of a boy who showed signs of obesity and sleepiness since he was 5 years old. At the age of 7, he suffered two tonic-clonic seizures and, over the next four years, displayed signs and symptoms of significant hypothalamic dysfunction; after multiple tests, he was then diagnosed with ROHHAD. Despite receiving a large number of treatments, the patient died at the age of 11. Conclusion: The pathophysiology of this disease needs to be clarified in order to investigate effective treatments in the future.(AU)

Narcolepsia multirresistente / Multidrug resistant narcolepsy

Introducción: La narcolepsia de tipo 1 es una enfermedad degenerativa focal del hipotálamo que afecta selectivamente a las neuronas productoras de orexina (hipocretina). Presenta múltiples manifestaciones clínicas, tanto en vigilia como en sueño. Con frecuencia, los síntomas son tan disruptivos que ocasionan enorme sufrimiento y deterioro de la calidad de vida de los pacientes. Aunque en ocasiones es suficiente con un abordaje no farmacológico, la gran mayoría de los enfermos necesita medicación para un adecuado control clínico. Caso clínico: Varón que a los 43 años comenzó a presentar de forma aguda excesiva somnolencia diurna y episodios de cataplejía. Tras un exhaustivo estudio se le diagnosticó narcolepsia de tipo 1. A lo largo de la evolución de la enfermedad se le prescribieron antidepresivos, neuroestimulantes y oxibato sódico, en monoterapia o en combinación. La respuesta al tratamiento farmacológico fue insuficiente y se acompañó de numerosos efectos secundarios. Tras la introducción de pitolisant se objetivó una franca mejoría de los síntomas, y se consiguió reducir la dosis de los otros fármacos y de sus efectos adversos. Conclusión: Son numerosas las medidas disponibles en la actualidad para abordar los síntomas cardinales de la enfermedad, aunque siguen existiendo casos resistentes al tratamiento antinarcoléptico. Los fármacos con mecanismos de acción sobre receptores del sistema histaminérgico pueden resultar de gran utilidad en estos casos.(AU)

Introduction: Narcolepsy type 1 is a focal degenerative disease of the hypothalamus that selectively affects orexin (hypocretin)-producing neurons. It presents multiple clinical manifestations, both in wakefulness and in sleep. The symptoms are often so disruptive that they cause enormous suffering and impair patients’ quality of life. Although a non-pharmacological approach is sometimes sufficient, the vast majority of patients need medication for adequate clinical management. Case report: A male who, at 43 years of age, began to present acutely with excessive daytime sleepiness and episodes of cataplexy. After a thorough examination, he was diagnosed with narcolepsy type 1. Throughout the course of the disease, he was prescribed antidepressants, neurostimulants and sodium oxybate, in monotherapy or in combination. The response to pharmacological treatment was insufficient and accompanied by numerous side effects. Following the introduction of pitolisant, there was a marked improvement in his symptoms and a reduction in the dose of the other drugs and their adverse effects was achieved. Conclusion: A number of measures are now available to address the cardinal symptoms of the disease, although there are still cases that are resistant to anti-narcoleptic treatment. Drugs with mechanisms of action that act upon receptors in the histaminergic system can be very useful in these cases.(AU)

Farm level bio-economic modelling of aquatic animal disease and health interventions.

A farm level bio-economic model, for aquatic animal production, of the relationships between inputs (e.g. purchased animals), outputs (e.g. harvested animals) and gross margin (GM) was developed to assess ex-ante the economics of disease and animal health interventions. Feed costs were calculated from estimates of food conversion ratio (FCR), animals harvested and mortality. The model was applied to a typical grow-out rainbow trout (Oncorhynchus mykiss) farm on Lake Titicaca, Peru and a typical shrimp (Paenus vannamei) farm in the Mekong Delta, Vietnam. The model was used in two analyses. Firstly, an approach to assess the burden of disease developed by the Global Burden of Animal Diseases (GBADs) project was adopted. Output under conditions of 'ideal health' was estimated by reducing mortality to zero and removing health costs. GM in both systems increased by approximately 25% when production was kept constant (and stocking rates reduced) and more than doubled if production was allowed to rise (and initial stocking increased). The increase in GM under conditions of ideal compared with current production provided an estimate of the maximum possible benefit from improved health management. Secondly, break-even analysis was used to assess the economics of vaccination against infectious pancreatic necrosis (IPN) vaccine (rainbow trout - RBT) and probiotics (shrimp). If initial stocking was kept constant, and production allowed to rise, break-even points for the intervention (when GM was the same with and without the intervention) were achieved when mortality was reduced by 16% in RBT fry and juvenile and 28% in shrimp. If production was kept constant and benefit realised by reduced initial stocking, the break-even point was achieved for i) vaccination of RBT when mortality in fry and juveniles was reduced by 39%, and ii) probiotics in shrimp production when there was a 15% reduction in mortality (nursery and grow-out), 10% increase in shrimp weight at harvest and 10% improvement in FCR. The results demonstrate how relatively simple models, parameterised with basic farm production data, can assess the burden of disease and quantify ex-ante the potential benefit of interventions. In the absence of trial data, these analyses support decision-making by farmers. The models can be adapted for many aquaculture systems. Farm level results can be extrapolated to estimate disease burden, and benefits of interventions, at regional or national level and thus support informed decision-making and allocation of resources to health management.

[Narcolepsy secondary to a rare fatal disease]. / Narcolepsia secundaria a enfermedad rara y fatal.

INTRODUCTION: ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation) is a rare disease, with only about two hundred cases reported to date, that starts in previously healthy children. The first sign is usually obesity, followed by hypothalamic dysfunction and sleep-disordered breathing, which rapidly progresses until the death of the patient. ROHHAD with narcolepsy is even rarer, with only two cases described so far. CASE REPORT: We report the case of a boy who showed signs of obesity and sleepiness since he was 5 years old. At the age of 7, he suffered two tonic-clonic seizures and, over the next four years, displayed signs and symptoms of significant hypothalamic dysfunction; after multiple tests, he was then diagnosed with ROHHAD. Despite receiving a large number of treatments, the patient died at the age of 11. CONCLUSION: The pathophysiology of this disease needs to be clarified in order to investigate effective treatments in the future.

TITLE: Narcolepsia secundaria a enfermedad rara y fatal.Introducción. La ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation) es una enfermedad rara, con escasamente dos centenas de casos documentados hasta la fecha, que se inicia en niños previamente sanos y en la que el primer signo suele ser la obesidad, seguido de una disfunción hipotalámica y trastornos respiratorios del sueño, que progresan rápidamente hasta el fallecimiento del paciente. La ROHHAD con narcolepsia es aún más infrecuente, con sólo dos casos descritos hasta el momento. Caso clínico. Niño que, desde los 5 años, presenta señales de obesidad y somnolencia. A los 7 años sufre dos crisis tonicoclónicas y, durante los cuatro años siguientes, muestra síntomas y signos propios de una disfunción hipotalámica importante, por lo que, tras múltiples pruebas, se le diagnosticó ROHHAD. A pesar de los múltiples tratamientos recibidos, el paciente falleció a los 11 años de edad. Conclusión. Es necesario aclarar la fisiopatología de esta enfermedad para poder investigar futuros tratamientos que resulten eficaces.

Subspace averaging of steady-state visual evoked potentials.

A new algorithm for doing signal averaging of steady-state visual evoked potentials (VEP's) is described. The subspace average is obtained by finding the orthogonal projection of the VEP measurement vector onto the signal subspace, which is based on a sinusoidal VEP signal model. The subspace average is seen to out-perform the conventional average using a new signal-to-noise-ratio-based performance measure on simulated and actual VEP data.

Optimal detection of visual evoked potentials.

We consider the problem of detecting visual evoked potentials (VEP's). A matched subspace filter is applied to the detection of the VEP and is demonstrated to perform better than a number of other evoked potential detectors. Unlike single-harmonic detectors, the matched subspace filter (MSF) detector is suitable for detecting multiharmonic VEP's. Moreover, the MSF is optimal in the uniformly most powerful sense for multiharmonic signals with unknown noise variance.

Estimation of single sweep steady-state visual evoked potentials by adaptive line enhancement.

An adaptive line enhancer (ALE) is used to obtain estimates of the single sweep steady-state visual evoked potential (SSVEP). The method is seen to enhance the estimated signal-to-noise ratio of the single sweep SSVEP by as much as 10 dB.

RadioVisioGraphy of the temporomandibular joint: comparisons with transcranial radiography.

RadioVisioGraphy (RVG), a new digital imaging technique, is compared to conventional transcranial radiographic imaging of the temporomandibular joint. The results of this study using fixed human cadaver specimens revealed an excellent correlation between the recorded images and the actual anatomic specimens. Dosimetry, using a beryllium-windowed ionization chamber, showed a 64% dose reduction with charge-coupled device (CCD) when compared to standard film-screen combination.

Weighted averaging of evoked potentials.

Weighted averages of brain evoked potentials (EP's) are obtained by weighting each single EP sweep prior to averaging. These weights are shown to maximize the signal-to-noise ratio (SNR) of the resulting average if they satisfy a generalized eigenvalue problem involving the correlation matrices of the underlying signal and noise components. The signal and noise correlation matrices are difficult to estimate and the solution of the generalized eigenvalue problem is often computationally impractical for real-time processing. Correspondingly, a number of simplifying assumptions about the signal and noise correlation matrices are made which allow an efficient method of approximating the maximum SNR weights. Experimental results are given using actual auditory EP data which demonstrate that the resulting weighted average has estimated SNR's that are up to 21% greater than the conventional ensemble average SNR.