Search results for "Senso"
showing 10 items of 4750 documents
Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes.
1988
Nineteen obligate heterozygotes, 8 individuals at risk of being heterozygote, and 10 patients afflicted with four different forms of neuronal ceroid lipofuscinosis were examined electrophysiologically. The group of obligate heterozygotes was compared to age-matched control groups. Statistically significant differences were found between scotopic b-wave amplitudes, P-ERG amplitudes, and EOG light peaks of the obligate carriers of the juvenile type and the control subjects. The photopic L-ERGs and the latencies of the VEPs were mostly within the normal range. The findings represent the first evidence of functional ophthalmological changes in obligate carriers of neuronal ceroid lipofuscinosis…
Guía de práctica clínica: síndrome del intestino irritable con estreñimiento y estreñimiento funcional en adultos: concepto, diagnóstico y continuida…
2016
Resumen En esta Guía de práctica clínica analizamos el manejo diagnóstico y terapéutico de pacientes adultos con estreñimiento y molestias abdominales, bajo el espectro del síndrome del intestino irritable y el estreñimiento funcional. Tienen una importante repercusión personal, sanitaria y social, afectando a la calidad de vida de los pacientes que las padecen. En el síndrome del intestino irritable con predomino del estreñimiento, este es la alteración deposicional predominante junto con dolor abdominal recurrente, hinchazón y distensión abdominal frecuente. El estreñimiento se caracteriza por la dificultad o la escasa frecuencia en las deposiciones, acompañado por esfuerzo excesivo duran…
Influence of optic quality on contrast sensitivity and visual acuity in eyes with a rigid or flexible phakic intraocular lens
2009
Purpose To determine whether the difference in optic quality between 2 types of phakic intraocular lenses (pIOLs) affects visual quality. Setting Fundacion Oftalmologica del Mediterraneo, Valencia, Spain. Methods Before implantation of a pIOL for myopia, all eyes had an examination including corrected (CDVA) and uncorrected (UDVA) distance visual acuity testing, corneal endothelial cell count (ECC), and intraocular pressure (IOP) measurement. The postoperative outcomes, determined at least 1 year after surgery, were CDVA; UDVA; contrast sensitivity function under photopic, mesopic, and mesopic with glare conditions; ECC; IOP; keratometry (Scheimpflug photography); and total ocular aberratio…
Dipole Source Analysis of Laser-Evoked Subdural Potentials Recorded From Parasylvian Cortex in Humans
2003
The location of the human nociceptive area(s) near the Sylvian fissure is still controversial in spite of evidence from imaging and evoked potential studies that noxious heat stimuli activate somatosensory areas in that region. Some studies have suggested the secondary somatosensory cortex (SII) on the upper bank of the Sylvian fissure posterior to the central sulcus, others the anterior insula or parietal area 7b. In this study, we applied dipole source analysis techniques to laser-evoked potentials (LEPs) that were recorded from subdural grid electrodes in three patients. As a functional marker, auditory-evoked potentials (AEPs) with a generator on the opposite bank of the Sylvian fissur…
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
2018
Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were hete…
Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss
2014
Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c…
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
Speech perception performance as a function of stimulus pulse rate and processing strategy preference for the Cochlear™ Nucleus®CI24RE device: Relati…
2010
Current cochlear implants can operate at high pulse rates. The effect of increasing pulse rate on speech performance is not yet clear. Habituation to low rates may affect the outcome. This paper presents the results of three subsequent studies using different experimental paradigms, applying the Nucleus CI24RE device, and conducted by ten European implant teams. Pulse rate per channel varied from 500 to 3500 pulses per second with ACE and from 1200 to 3500 pps with CIS strategy. The results showed that the first rate presented had little effect on the finally preferred rate. Lower rates were preferred. The effect of pulse rate on word scores of post-linguistic implantees was small; high rat…
Impact of the line of sight on toric phakic intraocular lenses for hyperopia
2003
We present a hyperopic patient with a decentered line of sight in whom the residual refractive error after toric phakic intraocular lens (TP IOL) implantation was improved by displacement and individualized treatment. A 35-year-old woman presented with asthenopic complaints 2 months after bilateral TP IOL implantation and IOL rotation 4 weeks later. Examination revealed the line of sight to be nasally and inferiorly decentered in relation to the center of the pupil. A more nasal reenclavation of the TP IOL decreased the coma, and the uncorrected visual acuity was 20/20. We conclude that line of sight should be measured before TP IOL implantation, especially in hyperopic eyes.
Bimodal sensory stimulation-induced seizures.
1987
Abstract A curious case is reported in which the patient, a young woman, exibited convulsive seizures when approaching closely to a television. The visual and acoustic stimulation did not change her EEG, whereas simultaneous stimulation with both the modalities induced bilateral and symmetrical high-voltage spikes (with their diffusion) that led to a convulsive seizure. Results are discussed with relation to the literature.