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1.
J Cardiovasc Dev Dis ; 8(11)2021 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-34821709

RESUMEN

Post-acute sequelae of SARS-CoV-2 (PASC), or long COVID syndrome, is emerging as a major health issue in patients with previous SARS-CoV-2 infection. Symptoms commonly experienced by patients include fatigue, palpitations, chest pain, dyspnea, reduced exercise tolerance, and "brain fog". Additionally, symptoms of orthostatic intolerance and syncope suggest the involvement of the autonomic nervous system. Signs of cardiovascular autonomic dysfunction appear to be common in PASC and are similar to those observed in postural orthostatic tachycardia syndrome and inappropriate sinus tachycardia. In this review, we report on the epidemiology of PASC, discuss current evidence and possible mechanisms underpinning the dysregulation of the autonomic nervous system, and suggest nonpharmacological and pharmacological interventions to treat and relieve symptoms of PASC-associated dysautonomia.

2.
J Child Health Care ; 23(2): 256-265, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30049224

RESUMEN

The use of sedation before a magnetic resonance imaging (MRI) scan is a common practice to overcome motion artifacts and anxiety in children. However, this technique has its drawbacks. We retrospectively compared the number of children undergoing a brain MRI scan with or without sedation before and after the introduction of an educational training protocol using a toy scanner (the Philips Kitten Scanner) and we investigated the effectiveness of this training in relation to children's age and gender. We considered 1461 children between 4 years and 14 years. Of them, 158 had a diagnosis of autism spectrum disorder or attention-deficit hyperactivity disorder and were excluded from further analysis. After the introduction of the Kitten Scanner training protocol, the sedation need decreased by 30% in the total sample group and in children younger than 10 years in particular. Before the training, females were more likely to undergo the MRI examination without sedation as compared to males, while after its introduction this gender difference was no more visible.


Asunto(s)
Anestesia , Ansiedad/prevención & control , Imagen por Resonancia Magnética/instrumentación , Educación del Paciente como Asunto , Ludoterapia , Juego e Implementos de Juego/psicología , Adolescente , Animales , Encéfalo , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Retrospectivos
3.
Neurosci Lett ; 610: 150-3, 2016 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-26549787

RESUMEN

Alzheimer's disease (AD) is a neurodegenerative disease affecting over 20 million people worldwide, mainly adult subjects in advanced age. Over 240 different fully penetrant autosomal dominant mutations in 532 families around the world have been described in three genes [i.e., amyloid precursor protein (APP), and presenilins (PSEN1 and PSEN2)] causing 50% of all Familial AD. We report a new mutation (p.Ile408Thr, c. 1223T>C) in the PSEN1 gene in one autosomal dominant Late Onset AD patient. The genetic variation occurred in a conserved domain of the protein and was present in the proband and in the younger sister who is likely to be prodromal AD. Thus, we suggest that this variant will have probably a pathogenic effect, hypothesizing a possible key role of this new mutation in the pathogenesis of Alzheimer's disease for this family.


Asunto(s)
Enfermedad de Alzheimer/genética , Presenilina-1/genética , Edad de Inicio , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Mutación , Linaje
4.
IEEE Trans Neural Syst Rehabil Eng ; 23(6): 1106-16, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25910194

RESUMEN

A novel system for the neuro-motor rehabilitation of upper limbs was validated in three sub-acute post-stroke patients. The system permits synchronized cortical and kinematic measures by integrating high-resolution EEG, passive robotic device and Virtual Reality. The brain functional re-organization was monitored in association with motor patterns replicating activities of daily living (ADL). Patients underwent 13 rehabilitation sessions. At sessions 1, 7 and 13, clinical tests were administered to assess the level of motor impairment, and EEG was recorded during rehabilitation task execution. For each session and rehabilitation task, four kinematic indices of motor performance were calculated and compared with the outcome of clinical tests. Functional source maps were obtained from EEG data and projected on the real patients' anatomy (MRI data). Laterality indices were calculated for hemispheric dominance assessment. All patients showed increased participation in the rehabilitation process. Cortical activation changes during recovery were detected in relation to different motor patterns, hence verifying the system's suitability to add quantitative measures of motor performance and neural recovery to classical tests. We conclude that this system seems a promising tool for novel robot-based rehabilitation paradigms tailored to individual needs and neuro-motor responses of the patients.


Asunto(s)
Electroencefalografía/métodos , Recuperación de la Función , Robótica/métodos , Rehabilitación de Accidente Cerebrovascular , Interfaz Usuario-Computador , Actividades Cotidianas , Anciano , Fenómenos Biomecánicos , Encéfalo/fisiopatología , Corteza Cerebral/fisiopatología , Femenino , Lateralidad Funcional , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Monitoreo Fisiológico/instrumentación , Monitoreo Fisiológico/métodos , Trastornos del Movimiento/etiología , Trastornos del Movimiento/fisiopatología , Trastornos del Movimiento/rehabilitación , Medicina de Precisión , Desempeño Psicomotor , Accidente Cerebrovascular/fisiopatología , Resultado del Tratamiento
5.
Neurosci Lett ; 392(1-2): 110-3, 2006 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-16188386

RESUMEN

Recent studies have reported a genetic association between the 73 G/A polymorphism within exon 1 of the cystatin C gene and Alzheimer's disease (AD) with conflicting results. To further investigate the proposed association and to clarify the role of CST3 as risk factor for AD, we analyzed the genotype and allele frequency distribution of CST3 G73A and apolipoprotein (ApoE) gene polymorphisms in 243 Italian patients with AD and 186 controls. Patients with AD were consecutively collected among the outpatients from the Neurology Department at the University of Florence. All 429 subjects were genotyped for CST3 and ApoE polymorphisms. After stratification according to age, the GG frequency resulted slightly higher in younger (<65 years) cases, but far from statistically significant. There was also no evidence of a statistical interaction between CST3 and ApoE polymorphisms. In conclusion, our data suggest that the CST3 genetic variant is not a susceptibility factor in AD, nor mitigate the effect of the ApoE varepsilon4 allele in the risk of developing AD.


Asunto(s)
Enfermedad de Alzheimer/genética , Apolipoproteínas E/genética , Cistatinas/genética , Polimorfismo Genético , Anciano , Enfermedad de Alzheimer/epidemiología , Análisis de Varianza , Cistatina C , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Italia/epidemiología , Masculino , ARN Mensajero/biosíntesis , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos
6.
Eur J Radiol ; 45(1): 78-80, 2003 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-12499067

RESUMEN

Paraneoplastic limbic encephalitis may develop in the setting of an otherwise occult malignancy. In the case reported here, the neuropsychiatric syndrome resolved with treatment of the underlying, previously undiagnosed small-cell lung cancer, and MR imaging showed resolution of the characteristic temporal lobe signal abnormalities.


Asunto(s)
Carcinoma de Células Pequeñas/terapia , Encefalitis Límbica/diagnóstico , Neoplasias Pulmonares/terapia , Anciano , Encéfalo/patología , Carcinoma de Células Pequeñas/diagnóstico , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico , Imagen por Resonancia Magnética
7.
Neurosci Lett ; 328(3): 273-6, 2002 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-12147324

RESUMEN

A recent study has shown that a genetic variation in the Cathepsin D (catD) gene is a major risk factor for the development of Alzheimer's disease (AD). CatD is an intracellular aspartyl protease involved in neurodegeneration. A C-->T (Ala-->Val) transition at position 224 has been associated with altered intracellular maturation. Recently, a significant overrepresentation of the T allele of the catD gene in AD patients compared with controls was reported. However, this finding has not yet been confirmed. We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD). Our studies revealed that the distribution of catD polymorphism did not differ in AD and FAD patients and controls. Thus, our data do not support a role for the catD gene as a genetic risk factor in the development of AD.


Asunto(s)
Enfermedad de Alzheimer/genética , Catepsina D/genética , Polimorfismo Genético , Anciano , Anciano de 80 o más Años , Alelos , Apolipoproteínas E/genética , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Italia , Masculino , Persona de Mediana Edad
8.
Eur J Radiol ; 43(1): 19-27, 2002 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12065116

RESUMEN

With widespread use of CT and MR imaging, experience with spontaneous dermoid rupture has significantly increased. What was previously believed to be a generally severe or even fatal accident, being the diagnosis made either at surgery or autopsy, or in patients with such consequent conditions as chemical meningitis or obstructive hydrocephalus, now appears to be more frequent than previously thought, and there is some evidence that it may also cause only a slight symptomatology or even be quite asymptomatic. We reviewed the clinical and imaging data of our series of five patients with spontaneously ruptured dermoids, spinal in one case, and intracranial supratentorial in four. These had their diagnosis following mild symptoms (number two cases) or incidentally (number two cases); the spinal tumor caused acute bladder dysfunction, possibly while undergoing rupture, and was associated with indolent intracranial fat spread. Three of the patients also had MR demonstration of asymptomatic persistence of fat spread in the subarachnoid spaces, respectively, 3, 4, and 5 years after rupture. One of the five cases, concerning a parasellar dermoid followed up over 6 years, provides the first demonstration of MR signal intensity change of the tumor prior to rupture.


Asunto(s)
Quistes del Sistema Nervioso Central/diagnóstico , Quiste Dermoide/diagnóstico , Imagen por Resonancia Magnética , Neoplasias Supratentoriales/diagnóstico , Adulto , Encéfalo/patología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Rotura Espontánea , Tomografía Computarizada por Rayos X
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