Epilepsias mioclónicas progresivas / Progressive myoclonic epilepsies

RESUMEN Las epilepsias mioclónicas progresivas (EMP) son enfermedades neurodegenerativas infrecuentes, clínica y genéticamente heterogéneas, caracterizadas por presentar mioclonías de acción, crisis epilépticas y deterioro neurológico progresivo. Afectan principalmente a niños y adolescentes. Su cuadro clínico inicial dificulta un adecuado diagnóstico diferencial con otras enfermedades neurológicas genéticas más frecuentes como la epilepsia mioclónica juvenil. Se sabe que la mayoría de mutaciones genéticas que causan estas enfermedades reflejan una herencia autosómica recesiva, con variantes dominante o mitocondrial de excepcional frecuencia. El diagnóstico tiene lugar cuando se identifican las mutaciones en un paciente con un cuadro clínico característico (como es el caso de la enfermedad de Unverritch-Lundborg o la EMP del Mar del Norte). Por otro lado, en algunos casos son más útiles la anatomía patológica (para la enfermedad de cuerpos de Lafora o la epilepsia mioclónica con fibras rojas rasgadas) o exámenes auxiliares específicos (vgr., ácido siálico en orina para Sialidosis). Es importante hacer el diagnóstico específico ya que ello permite un tratamiento genético definido para algunas de estas enfermedades. El manejo de las crisis epilépticas incluye el uso de valproato como fármaco de primera línea, en tanto que otros como zonisamida y levetiracetam constituyen una segunda línea; sin embargo, la falta de respuesta al tratamiento médico antiepiléptico es relativamente común. El pronóstico puede variar entre una enfermedad y otra, pero, por lo general, suele ser desfavorable conduciendo a discapacidad severa o muerte temprana.

SUMMARY Progressive myoclonus epilepsies (PME) are infrequent neurodegenerative disorders clinically and genetically heterogeneous cause, characterized by action myoclonus, seizures and progressive neurologic disability. They mainly affect children and teenagers. Its early clinical features make the differential diagnosis difficult with other, more frequent neurogenetic diseases such as juvenile myoclonic epilepsy. The majority of genetic mutations that lead to these diseases are known to be autosomal-recessive inheritance, with autosomal-dominant or mitochondrial inheritance being of exceptional frequency. The diagnosis is made when the mutations are identified in a patient with characteristic clinical features (like in the Univerritch-Lundborg disease or North Sea PME). On the other hand, in some cases pathological (vgr., for Lafora body disease or for Myoclonic epilepsy with ragged-red fibers) or specific laboratory test (such as sialic acid in urine for Sialidosis), are more useful. It is important to make as specific a diagnosis as possible because there are some genetically defined therapies for some of these diseases. The management of the seizures in these diseases includes the use of valproic acid as a first-line drug treatment, and other drugs like zonisamide and levetiracetam as second-line. However, the lack of response to antiepileptic drugs is not uncommon. Although the prognosis varies within diseases, it is generally unfavorable and may lead to disability or early death.

Stroke volume variation and serum creatinine changes during abdominal aortic aneurysm surgery: a time-integrated analysis.

BACKGROUND: Patients undergoing abdominal aortic aneurysm (AAA) surgery with suprarenal clamping are at high risk for acute kidney injury (AKI) and major cardiac and cerebrovascular events (MACCE). We aimed to assess whether the stroke volume variation (SVV), a measure of hemodynamic instability, is associated with AKI in hypertensive patients undergoing elective AAA surgery with suprarenal clamping. METHODS: In a cohort of 51 hypertensive patients, we performed serial measurements of SVV (n = 459) and serum creatinine (sCr) (n = 255). AKI was defined according to the KDIGO clinical practice guidelines. Data were analyzed by repeated-measures ANOVA and regression analysis of time-integrated changes of both SVV and sCr. RESULTS: AKI developed in 45% of patients (stage 1: 31%; stage 2: 10%; stage 3: 2%). The diuresis during surgery (beta - 0.29 Z-score 95% [CI - 0.54, - 0.05]; p = 0.02), clamp time (beta 0.29 Z-score [0.05-0.52]; p = 0.02), and time-integrated changes in SVV from baseline to 12 h after surgery (beta 0.31 Z-score [0.03-0.60]; p = 0.03) were independent predictors of the time-integrated changes in sCr from baseline to 48 h after the end of surgery. In a model adjusted for age and sex, patients with AKI had an increased risk for MACCE during a mean follow-up of 3.5 ± 1.1 years (HR 5.53 [1.52-20.06]; p = 0.004). CONCLUSIONS: SVV increases progressively during and after AAA surgery in subjects who will develop AKI. The increase of SVV precedes and predicts the rise in sCr and is a good discriminator of the development of AKI. AKI is associated with an increased long-term risk for MACCE.

An Observational Veneto Research on Ventilator-Associated Pneumonia (OVeRVAP): attributable mortality and cumulative incidence of ventilator-associated pneumonia.

BACKGROUND: The relationship between ventilator-associated pneumonia (VAP) and mortality varies from study to study, and its entity is uncertain due a considerable variation in the attributable mortality. The aim of this study was to evaluate the relationship between VAP frequency and mortality in a cohort of mechanically ventilated patients. METHODS: A multicenter prospective observational study was conducted in 21 Intensive Care Units (ICUs). The patients were recruited from 2008 to 2010 within randomly selected periods. 842 patients of 2595 admitted, met the eligibility criteria and were enrolled in the study. The study's primary outcome was death by any cause in one of the ICUs. We modelled VAP occurrence as a time-dependent covariate and fitted a competing risk analysis model. We estimated the attributable mortality of VAP as the population-attributable fraction of ICU mortality. RESULTS: A total of 121 patients developed VAP (14.4%), for an incidence rate of 15.7 cases per 1000 ventilator days; of the 175 patients (20.8%) who died during the study period, 31 (25.6%) had VAP. The ICU mortality rate in the patients who developed VAP was 22.6 per 1000 ventilator days (95% CI: 15.9-32.1). We estimated an attributable mortality of 8.4%. CONCLUSIONS: In 8.4% of cases, VAP was the leading cause of death in our study. This indicates that the patients died more frequently with VAP rather than because of it.

Necrotizing pneumonia caused by Panton-Valentine leukocidin-producing methicillin-susceptible Staphylococcus aureus (MSSA).

Staphylococcus aureus harboured by Panton-Valentine leukocidin (PVL) is emerging as a serious problem worldwide. There has been an increase in the incidence of necrotizing lung infections in otherwise healthy young people with very high mortality rate associated with these strains. This report documents a confirmed case of necrotizing pneumonia due to methicillin-susceptible S. aureus (MSSA) harbouring Panton-Valentine leukocidin genes. An apparently healthy 49-year old man was admitted to our hospital for dyspnea and he quickly developed acute respiratory distress syndrome. MSSA harbouring Panton-Valentine leukocidin genes were cultured from the abscess fluid and from multiple blood specimens. Aggressive antibiotic therapy was started and intensive supportive care led finally to a complete recovery. Rapid identification of Panton-Valentine leukocidin in MSSA samples should be supposed when a young, immunocompetent patient, develops a necrotizing pneumonia. Bactericidal antistaphylococcal antibiotics are recommended for the treatment as soon as possible to avoid the potentially devastating consequences of this kind of S. aureus.

Intrathecal colistin for treatment of multidrug resistant (MDR) Pseudomonas aeruginosa after neurosurgical ventriculitis.

Cerebrospinal fluid (CSF) shunts significantly improve the quality of life in patients with acute hydrocephalus. However, infections associated with a CSF shunt constitute a severe complication with high morbidity and mortality. We describe a case of CFS shunt infection cured with intrathecal colistin.