RESUMEN
OBJECTIVE: Sporadic cerebral amyloid angiopathy (CAA) is a degenerative brain small vessel disease of ageing resulting from progressive amyloid deposition in small arteries and arterioles of the cortex and leptomeninges. CAA may be diagnosed by the mean of Boston criteria, particularly with the use of the blood-sensitive T2* MRI sequences (GRE and SWI). Epileptic seizures have rarely been reported in CAA. PATIENTS AND METHODS: We describe two patients with late-onset unprovoked seizures due to CAA. A short literature review on this topic is presented. RESULTS: In our two patients with late-onset unprovoked seizures as the first manifestation of CAA, only GRE and SWI sequences lead to a correct diagnosis. In literature, only 15 patients with CAA presenting with seizures have been reported. In these subjects, data on seizures semiology and prognosis are scarce. CONCLUSIONS: Our report highlights the importance to perform blood-sensitive sequences in all subjects with LOE of otherwise unknown etiology, not to miss a diagnosis of CAA.
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Angiopatía Amiloide Cerebral , Epilepsia , Angiopatía Amiloide Cerebral/complicaciones , Corteza Cerebral , Epilepsia/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Convulsiones/diagnóstico por imagen , Convulsiones/etiologíaRESUMEN
OBJECTIVE: Convergence spasm is a clinical condition characterized by transient episodes of convergence, miosis and accommodation with strabismus and diplopia and it is usually a manifestation of a functional neurological disorder. We describe a patient with a challenging diagnosis of convergence spasm in the setting of occipital lobe epilepsy. CASE REPORT: A 52-year-old woman came for the assessment of focal epilepsy due to left occipital cortical dysplasia. During ocular motility tests, she presented with episodes of short duration (~10-30 seconds) of convergent strabismus. Neuropsychological evaluation showed a severe mixed anxiety-depressive disorder with a tendency toward somatization. RESULTS: Convergence spasm was recorded during video-EEG examination and no ictal activity was present. CONCLUSIONS: To our knowledge, no other report of functional convergence spasm in the context of focal epilepsy associated with cortical dysplasia has been described in literature.
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Epilepsias Parciales/diagnóstico , Esotropía/diagnóstico , Espasmo/diagnóstico , Encéfalo/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana EdadRESUMEN
The study of a desmoglein 2 murine model of arrhythmogenic cardiomyopathy revealed cardiac inflammation as a key early event leading to fibrosis. Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disorder leading to ventricular arrhythmias and heart failure due to abnormalities in the cardiac desmosome. We examined how loss of desmoglein 2 (Dsg2) in the young murine heart leads to development of AC. Apoptosis was an early cellular phenotype, and RNA sequencing analysis revealed early activation of inflammatory-associated pathways in Dsg2-null (Dsg2-/-) hearts at postnatal day 14 (2 weeks) that were absent in the fibrotic heart of adult mice (10 weeks). This included upregulation of iRhom2/ADAM17 and its associated pro-inflammatory cytokines and receptors such as TNFα, IL6R and IL-6. Furthermore, genes linked to specific macrophage populations were also upregulated. This suggests cardiomyocyte stress triggers an early immune response to clear apoptotic cells allowing tissue remodelling later on in the fibrotic heart. Our analysis at the early disease stage suggests cardiac inflammation is an important response and may be one of the mechanisms responsible for AC disease progression.
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Arritmias Cardíacas/inmunología , Cardiomiopatías/inmunología , Desmogleína 2/metabolismo , Fibrosis/fisiopatología , Insuficiencia Cardíaca/fisiopatología , Inflamación/complicaciones , Animales , Modelos Animales de Enfermedad , Humanos , Inflamación/patología , RatonesRESUMEN
OBJECTIVE: This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS: The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and areas of subcortical heterotopia. The second patient is a 40-year-old man, her son. He was born post-term with neonatal distress and psychomotor developmental delay with congenital left leg paresis and strabismus, as well as childhood-onset focal motor seizures. Brain MRI showed a right nucleus-capsular porencephalic cavitation with enlargement of the homolateral ventricle and a focal right occipital cortico-subcortical encephalomalacia. A small heterotopic band was also present in the frontal left subcortical region. RESULTS: We tested both patients with a NGS panel for genetic epilepsies, which evidenced a missense mutation in COL4A2 gene (c.2972G>A, causing the aminoacidic substitution Gly991Glu). CONCLUSIONS: The phenotypic spectrum associated with COL4A2 mutations has not been extensively described in the literature. Testing for COL4A mutations is indicated in patients with malformations of cortical development, particularly in the presence of familial conditions, even in the absence of porencephaly or early hemorrhagic strokes.
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Colágeno Tipo IV/genética , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Malformaciones del Desarrollo Cortical/genética , Adulto , Anciano , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , MutaciónRESUMEN
BACKGROUND AND PURPOSE: The purpose of this study was to determine whether switching from branded levetiracetam (Keppra® ) to a levetiracetam generic equivalent product (Matever® ) in an epilepsy cohort could provide adequate results in terms of seizure control and tolerability. METHODS: To be eligible for the study, patients had to have been taking Keppra® as monotherapy or polytherapy for at least 6 months. Between March 2013 and April 2017, patients were invited to switch to Matever® as part of their follow-up. We evaluated the number of seizures per month, drug-related adverse events and electroencephalography before the switch (T0, baseline) and 6 months after switching (T1). Furthermore, we reported the long-term follow-up of patients who continued to use Matever® after the end of the study, considering the most recent visit for each patient (T2). RESULTS: A total of 55 patients refused the switch. Among the remaining 125 patients, 59 (47%) were treated using Keppra® as monotherapy and 66 (53%) were on Keppra® as polytherapy. All 125 patients were subjected to switching from Keppra® to Matever® . Comparing patients before (T0) and after (T1) switching, we found no statistically significant differences in terms of seizure frequency and occurrence of adverse effects. There were no significant differences (number of seizures/month and drug-related adverse events) between patients treated with Matever® as monotherapy and patients who refused the switch and continued to use Keppra® as monotherapy for a long-term follow-up of 48 months. Electroencephalography findings were also unchanged. CONCLUSION: In our sample, brand-to-generic levetiracetam switching was effective and safe in both monotherapy and polytherapy regardless of the epilepsy syndrome.
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Epilepsia/tratamiento farmacológico , Levetiracetam/uso terapéutico , Adulto , Medicamentos Genéricos , Electroencefalografía , Femenino , Estudios de Seguimiento , Humanos , Levetiracetam/efectos adversos , Masculino , Persona de Mediana Edad , Cooperación del Paciente , Estudios Prospectivos , Equivalencia Terapéutica , Resultado del TratamientoRESUMEN
BACKGROUND: Endoscopic parathyroidectomy and thyroidectomy were introduced into clinical practice in 1995. Concerns about the use of carbon dioxide insufflation in the neck exist owing to reports of potential adverse metabolic and hemodynamic changes. HYPOTHESIS: Carbon dioxide insufflation in the neck may cause adverse effects on hemodynamic and blood gas levels. These adverse effects may reflect the level of pressure and duration of insufflation. METHODS: Fifteen pigs, 5 per group, underwent endoscopic thyroidectomy at 10, 15, and 20 mm Hg. Partial pressure of carbon dioxide (arterial), pH, cardiac output, central venous pressure, heart rate, and mean arterial pressure (MAP) were measured at baseline, 1 and 2 hours after carbon dioxide insufflation, and 30 minutes after desufflation. RESULTS: At 10 mm Hg, PaCO2 increased slightly but not significantly, and neither acidosis nor adverse hemodynamic changes were observed. Hypercarbia, moderate acidosis, and a slight increase in MAP occurred in pigs undergoing surgery at 15 mm Hg (MAP increased to 88 +/- 2.4 mm Hg from a baseline value of 78 +/- 3.53 mm Hg; P<.05). Pigs undergoing surgery at 20 mm Hg experienced severe hypercarbia and acidosis, as well as a significant decrease in MAP (P<.05). Central venous pressure decreased at 1 hour (P<.05) and increased at 2 hours (P<.05) in pigs undergoing surgery at 15 and 20 mm Hg. After desufflation, PaCO2 and pH levels were normal for the 10 and 15 mm Hg groups, while pigs undergoing surgery at 20 mm Hg developed a higher degree of hypercarbia and acidosis (P =.001). CONCLUSIONS: Carbon dioxide neck insufflation is safe at 10 mm Hg. The use of insufflation pressures higher than 15 mm Hg should be avoided due to the potential risk for metabolic and hemodynamic complications.
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Dióxido de Carbono/efectos adversos , Dióxido de Carbono/sangre , Endoscopía/efectos adversos , Hemodinámica/efectos de los fármacos , Insuflación/efectos adversos , Tiroidectomía/efectos adversos , Tiroidectomía/métodos , Animales , Arterias , Presión Sanguínea/efectos de los fármacos , Presión Venosa Central/efectos de los fármacos , Endoscopía/métodos , Femenino , Concentración de Iones de Hidrógeno/efectos de los fármacos , Volumen Sistólico/efectos de los fármacos , Porcinos , Factores de TiempoRESUMEN
PURPOSE: The purposes of this study were (1) to compare self-chosen speed of off-road cyclists and runners on a hilly course, (2) to compare the energy expenditure of off-road cyclists and runners on the same terrain, and (3) to describe changes in energy expenditure over the course of the exercise period. METHODS: Runners and cyclists performed three laps on a 2.75 km gravel course in a single exercise bout. The course was divided into 13 segments differing in grade and length. Position on the course and heart rate were recorded every few seconds. Speed was computed for each course segment on each lap; energy expenditure was estimated using recorded heart rates and exercise-specific maximal oxygen uptake measurements made prior to participation in the study. RESULTS: There were significant relationships between grade and speed for both runners (r = 0.64) and cyclists (r = 0.44). The differences between cyclists and runners were greatest on downhill segments. Energy expenditure rates were not significantly different for runners (71.6% VO2 peak) and cyclists (68.5% VO2 peak). CONCLUSIONS: Off-road cycling and running are comparable in energy demands. Variation in skill levels may account for the increased variability in speed among cyclists on downhill terrain.
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Ciclismo/fisiología , Metabolismo Energético/fisiología , Vehículos a Motor Todoterreno , Carrera/fisiología , Altitud , Análisis de Varianza , Ciclismo/estadística & datos numéricos , Composición Corporal/fisiología , Colorado , Prueba de Esfuerzo/instrumentación , Prueba de Esfuerzo/métodos , Prueba de Esfuerzo/estadística & datos numéricos , Frecuencia Cardíaca/fisiología , Humanos , Modelos Lineales , Masculino , Vehículos a Motor Todoterreno/estadística & datos numéricos , Carrera/estadística & datos numéricosRESUMEN
All accident reports involving U.S. Army OH-58 series helicopters were analyzed to determine vertical and horizontal velocity change at impact and the relationship of this kinematic data to the production of spinal injury. This analysis determined that spinal injury is related primarily to vertical velocity change at impact and is relatively independent of horizontal velocity change. The dramatic increase in the rate of spinal injury occurring just above the design sink speed of the aircraft landing gear (3.7 m/s) suggests that the fuselage and seat provide little additional impact attenuation capability above that of the gear alone. It is concluded that if this aircraft were modified to provide protection to the occupants for impacts up to 9.1 m/s (30 ft/s), approximately 80% of all spinal injury incurred in survivable accidents could be substantially mitigated. The incorporation of energy absorbing seats is recommended.