Search results for "uci"
showing 10 items of 5317 documents
Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study.
2010
Background: The Abelson helper integration-1 (AHI1) gene is required for both cerebellar and cortical development in humans. While the accelerated evolution of AHI1 in the human lineage indicates a role in cognitive (dys)function, a linkage scan in large pedigrees identified AHI1 as a positional candidate for schizophrenia. To further investigate the contribution of AHI1 to the susceptibility of schizophrenia, we evaluated the effect of AHI1 variation on the vulnerability to psychosis in two samples from Spain and Germany. Methodology/Principal Findings: 29 single-nucleotide polymorphisms (SNPs) located in a genomic region including the AHI1 gene were genotyped in two samples from Spain (28…
‘I was young, I wanted to return to sport, and re-ruptured my ACL’ – young active female patients’ voices on the experience of sustaining an ACL re-r…
2022
Abstract Background Despite anterior cruciate ligament (ACL) re-ruptures being common, research on patient experiences after knee trauma has primarily focused on the time after primary ACL reconstruction. Integrating qualitative research and patient experiences can facilitate researchers and clinicians in understanding the burden of an ACL re-rupture. The aim of the study was to explore the experiences of an ACL re-rupture journey in young active females aiming to return to knee-strenuous sports after primary ACL reconstruction. Method Fifteen young (19[range 16–23] years old) active females who suffered an ACL re-rupture were interviewed with semi-structured interviews. Qualitative content…
Assessment of maximal handgrip strength: How many attempts are needed?
2017
BACKGROUND: Handgrip strength (HGS) is used to identify individuals with low muscle strength (dynapenia). The influence of the number of attempts on maximal HGS is not yet known and may differ depending on age and health status. This study aimed to assess how many attempts of HGS are required to obtain maximal HGS.METHODS: Three cohorts (939 individuals) differing in age and health status were included. HGS was assessed three times and explored as continuous and dichotomous variable. Paired t-test, intraclass correlation coefficients (ICC) and Bland-Altman analysis were used to test reproducibility of HGS. The number of individuals with misclassified dynapenia at attempts 1 and 2 with respe…
Polymorphisms in TRAIL receptor genes and risk of breast cancer in Spanish women
2007
TRAIL is a potent inducer of apoptosis in malignant but not in normal cells. TRAIL binds to the proapoptotic death receptor DR4 and DR5 as well as to the decoy receptors DcR1 and DcR2. To evaluate the involvement of TRAIL receptor genes in breast cancer, we carried out a case-control study of eight selected polymorphisms in a large sample of Spanish women. Three of the eight selected SNPs (626G/C and 1322G/A in DR4 and 2699A/G in DcR2) showed some evidence of different genotype distributions in a random selection of 535 cases and 480 controls and were therefore studied in our entire sample (1008 cases and 768 controls). For the two DR4 polymorphisms, no differences in genotype or haplotype …
Development and Aging Are Oxygen-Dependent and Correlate with VEGF and NOS along Life Span
2012
During development and aging, vascular remodeling represents a critical adaptive response to modifications in oxygen supply to tissues. Hypoxia inducible factor (HIF) has a crucial role and is modulated by oxygen levels, with an age-dependent response in neonates, adult, and aged people. ROS are generated under hypoxic conditions and the accumulation of free radicals during life reduces the ability of tissues to their removal. In this immunohistochemical study we investigated the presence and localization of VEGF and iNOS in human carotid bodies (CB) sampled at autopsy from three children (mean age – 2 years), four adult young subjects (mean age – 44.3 years), and four old subjects (mean ag…
Accuracy of the water-siphon test associated to barium study in a high prevalence gastro-oesophageal reflux disease population: a novel statistical a…
2010
Abstract RATIONALE, AIMS AND OBJECTIVES: Gastro-oesophageal reflux disease (GORD) is 'a condition which develops when the reflux of gastric content causes troublesome symptoms or complications'. Instrumental diagnostic tests generally used for GORD are 24-hour pH-metry and upper gastrointestinal (GI) endoscopy but barium study associated with provocative manoeuvres such as the water-siphon test (WST), has also been used for GORD. The aim of this paper was to estimate the accuracy of several tests in patients with GORD in a tertiary care setting, focusing on WST, which is rapid and non-invasive, simple to perform and well-tolerated by patients. METHOD: A total of 172 consecutive patients, sy…
Somatosensory evoked potentials in Arnold-Chiari malformation.
2002
Abstract Nearly all patients with repaired myelomeningoceles have an Arnold–Chiari (AC) malformation and about 20% of these patients develop clinical signs of brainstem dysfunction. The management of symptomatic AC malformation is still controversial and techniques are needed to provide an objective assessment of brainstem function. We recorded somatosensory evoked potentials (SEPs) in 52 patients aged between 8 months and 20 years (median 7.3 years) with AC malformation, to determine whether the SEPs discriminate patients with symptomatic AC malformation from those without symptoms. The subcortical far-field components P13, P14 and N18, which are generated within the brainstem, were record…
Validity of the study of sentinel lymph nodes in the treatment of breast carcinoma.
2004
Since it was introduced in the 1990s, axillary sentinel lymph-node biopsy has been rapidly and widely adopted to avoid complete axillary dissection (though this is still the standard procedure). The aims of the study were two-fold: (i) to determine the value of different techniques of sentinel lymph-node identification and (ii) to verify the predictive value of such procedures through histological examination of the sentinel lymph node and axillary dissection in the same patients. Both sentinel lymph-node biopsy and axillary dissection were performed in 230 patients with T1 and T2 (< 3 cm) carcinoma of the breast. Preoperative lymphoscintigraphy was able to identify the sentinel lymph node …
Transcranial Doppler ultrasonography in the assessment of cerebral circulation arrest: improving sensitivity by trancervical and transorbital carotid…
2009
INTRODUCTION: Transcranial Doppler (TCD) can detect the cerebral circulation arrest (CCA) in brain death. TCD is highly specific, but less sensitive because of false-negatives accounting for up to 10%. The aim of the study was to explore the diagnostic accuracy of TCD and to determine whether it can be augmented by strategies such as the insonation of the extracranial internal carotid artery (ICA) and sequential examinations. METHODS: Data of 184 patients, who met clinical criteria of brain death, observed from 1998 through 2006, were retrospectively reviewed. The study of cerebral arteries was performed through the transtemporal approach, suboccipital insonation of the vertebro-basilar sys…
Simulating Images Seen by Patients with Inhomogeneous Sensitivity Losses
2012
PURPOSE We aim to simulate how colored images are perceived by subjects with local achromatic and chromatic contrast sensitivity losses in the visual field (VF). METHODS The spatiochromatic corresponding pair algorithm, introduced in a previous article (J Opt Soc Am (A) 2004;21:176-186), has been implemented with a linear model of the visual system. Spatial information is processed separately by the chromatic and achromatic mechanisms by means of a multiscale model, with sensors selective to frequency, orientation, and spatial position, whose mechanism-dependent relative weights change with the spatial location of the image. These weights have been obtained from perimetric data from a patie…