Search results for "ETIOLOGY"
showing 10 items of 639 documents
Detección precoz de la hipoacusia, influencia en el diagnóstico y en el tratamiento temprano
2021
Detección precoz de la hipoacusia, influencia en el diagnóstico y en el tratamiento temprano. INTRODUCCIÓN: La hipoacusia es el déficit sensorial mas frecuente en los países desarrollados. La prevalencia de cualquier grado de hipoacusia es de un 2-3 % de la población infantil y el 80% de las mismas, está presente al nacimiento. Los programa de screening auditivo (SA) se justifican por la alta incidencia de la hipoacusia y sus consecuencias devastadoras para el lenguaje cuando no se detecta precozmente. OBJETIVO: Establecer el número de niños diagnosticados de hipoacusia congénita gracias al SA en el hospital Universitario La Fe. Analizamos las técnicas utilizadas en el cribado, los parámetr…
The importance of the insular cortex for vestibular and spatial syndromes.
2020
BACKGROUND AND PURPOSE The aim of the study was to identify the neuroanatomical correlates and associations of neuropsychological syndromes after acute unilateral right-hemisphere brain lesions. The neuropsychological syndromes considered were orientation in three-dimensional space such as tilts of the subjective visual vertical or of the subjective haptic vertical, pusher syndrome, visual neglect and unawareness of paresis (anosognosia for hemiparesis). These neuropsychological phenomena have been found to occur separately or in different combinations after lesions to the right insular cortex. METHOD Magnetic resonance imaging scans were obtained from 82 patients with acute right-hemispher…
Pityriasis lichenoides chronica associated with herpes simplex virus type 2.
2012
Introduction. Pityriasis lichenoides is a rare, acquired spectrum of skin conditions of an unknown etiology.Case Report. A 28-year-old man presented with recurrent outbreaks of herpes simplex virus associated with the onset of red-to-brown maculopapules located predominantly in trunk in each recurrence. Positive serologies to herpes simplex virus type 2 were detected. Histopathological examination of one of the lesions was consistent with a diagnosis of pityriasis lichenoides chronica.Discussion. Pityriasis lichenoides is a rare cutaneous entity of an unknown cause which includes different clinical presentations. A number of infectious agents have been implicated based on the clustering of …
Oral lichenoid lesions related to contact with dental materials: A literature review
2007
Oral lichenoid lesions related to contact are defined as oral-cavity eruptions with an identifiable etiology, and are clinically and histologically similar to oral lichen planus. Within this group are found oral lichenoid lesions related to contact with dental materials (OLLC), the most common being those related to silver amalgam. Currently, it remains difficult to diagnose these lesions due to the clinical and histopathological similarity with oral lichen planus and other oral mucosa lesions of lichenoid characteristics. In the present paper, we carry out an updated review of the tests for, and the different characteristics of OLLC, which may aid the diagnosis. For this review, we made se…
Modeling a Complex Disease
2011
The recent decades have shown that multiple sclerosis (MS) is not a uniform disease entity with common etiology, but rather a disease or syndrome characterized by a heterogeneous pattern of manifestations and pathological principles. Apart from the older distinctions of the Devic's disease from the standard Western form of relapsing remitting MS or the more Asian form of opticospinal MS, specific pathological patterns indicating distinct etiologies have been established by analyses of biopsies and autopsies. Further, the distinct responses of patients to drugs targeting either specific cell types or immunoregulatory mechanisms such as Rituximab or IFNβ clearly demonstrate the heterogeneity …
Mechanisms of neuropathic pain and their importance in Fabry disease
2007
UNLABELLED One of the most prominent features of Fabry disease is neuropathic pain. Neuropathic pain occurs after neuronal damage. In contrast to inflammatory or trauma-related pain, which normally helps to maintain or restore body functions, neuropathic pain tends to become chronic, and must therefore be considered a 'pathological' pain. Neuropathic pain has usually been classified according to the aetiology of nerve damage: traumatic, inflammatory, cancer-related or metabolic (e.g. Fabry disease). However, use of this classification often results in inadequate therapy for neuropathic pain. Recent research has revealed distinct mechanisms that are responsible for neuropathic pain. These me…
Dental management of patients with microstomia. A review of the literature and update on the treatment.
2015
Difficulty in dental management is one of the factors that characterize the patient that requires special care in dentistry. One of the clinical conditions that make dental treatment particularly complex is microstomia.Microstomia is defined as a small and insufficient oral aperture that will hinder diagnosis and dental treatment. Although there have been reports of patients with diseases and syndromes that cause microstomia, the available literature offers only a limited number of reviews on this topic. The aim of this paper is to present a review of the etiology, clinical characteristics, diagnosis and treatment of microstomia. In addition, to describe the therapeutic adaptations to be ap…
Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism
2018
Objective: To examine cognitive deficits and associated brain activity in fragile X-associated tremor/ataxia syndrome (FXTAS) patients with parkinsonism (FXTp+), in relation to FXTAS patients without parkinsonism (FXTp-), and normal elderly controls (NC). Methods: Retrospective reviews were performed in 65 FXTAS patients who participated in the event-related brain potential (ERP) study and also had either a videotaped neurological examination or a neurological examination for extrapyramidal signs. Parkinsonism was defined as having bradykinesia with at least one of the following: rest tremor, postural instability, hypermyotonia, or rigidity. Eleven FXTp+ patients were identified and compare…
Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.
2022
AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …
Concordant Intestinal Atresia in Two Pairs of Monozygotic Twins
2011
Intestinal atresia in both twins from the same pregnancy is very rare. Only seven pairs of twins have been described. The authors report on two cases of monozygotic twins with different types of intestinal atresia and clinical evolution. Both pairs of observed twins turned out to be concordant for the presence of intestinal malformations and for the absence of other linked malformations; nevertheless, the atresic lesions were anatomically discordant in each pair of monozygotic twins. Therefore, the diagnostic and therapeutic procedures have shown some differences in phenotypic expression between the twins of both pairs. Possible etiologic factors and pathogenetic pathways are discussed, and…