Search results for "errors"
showing 10 items of 279 documents
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
2013
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse …
Physical activity - an important preanalytical variable
2014
The concentration of several biochemical and hematological biomarkers is strongly influenced by a number of preanalytical variables. Several lines of evidence attest that short, middle, and long-term exercise, as well as the relative intensity of physical effort (from mild to strenuous), may influence a broad array of laboratory variables. The amount of extracellular release and clearance from blood of most of these biomarkers is markedly influenced by the biological characteristics of the molecule(s), level of training, type, intensity and duration of exercise, and time of recovery after training. It is hence noteworthy that test results that fall outside the conventional reference ranges …
Age-related changes in the human visual system and prevalence of refractive conditions in patients attending an eye clinic.
2008
PURPOSE: To retrospectively report the trends of change in several parameters of the human visualsystem over a wide age range in patients attending an eye clinic. SETTING: University of Valencia, Valencia, Spain. METHODS: The clinical records of 2654 patients were retrospectively reviewed, and the age, sex, spherocylindrical refraction, visual acuity, keratometry, and intraocular pressure were obtained. Descriptive values for each parameter and the correlations with age and between different parameters were calculated. Vectorial components of refraction, including blur, were also derived from clinical refractive data and then analyzed. RESULTS: Several parameters changed significantly with …
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C
2016
Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. Design We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies. Results We identified novel de novo missense mutations in GUCY2C, the gene encod…
On the Estimation of the Volatility-Growth Link
2012
It is common practice to estimate the volatility-growth link by specifying a standard growth equation such that the variance of the error term appears as an explanatory variable in this growth equation. The variance in turn is modeled by a second equation. Hardly any of existing applications of this framework includes exogenous controls in this second variance equation. Our theoretical findings suggest that the absence of relevant explanatory variables in the variance equation leads to a biased and inconsistent estimate of the volatility-growth link. Our simulations show that this effect is large. Once the appropriate controls are included in the variance equation consistency is restored. I…
Corrigendum to “Short-term changes in light distortion in orthokeratology subjects"
2015
Artigo completo publicado na revista "BioMed Research International, (2015), 1-7" e disponível no RepositóriUM em: http://hdl.handle.net/1822/33375
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error
2016
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…
Biportal neuroendoscopic microsurgical approaches to the subarachnoid cisterns. A cadaver study.
1996
A preclinical cadaver study was performed to develop the technique of biportal neuroendoscopic dissection in the subarachnoid space of the basal cisterns and to test the feasibility, utility, and safety of this new technique. In 23 fresh post-mortem adult human cadavers and 2 formalin-fixed adult human head specimen a total of 33 biportal endomicrosurgical dissections into and within the basal cisterns were carried out. Following suction of cerebrospinal fluid from the subarachnoid space 0 degree-, 30 degrees-, and 70 degrees-lens-scopes (Aesculap AG, Tuttlingen, Germany) with outer diameters of 4.2 mm and trochars with outer diameters of 5 to 6.5 mm were introduced into the surgical field.…
An investigation of the stability of free and glucuronidated 11-nor-delta9-tetrahydrocannabinol-9-carboxylic acid in authentic urine samples.
2004
Preanalytical stability of a drug and its major metabolites is an important consideration in pharmacokinetic studies or whenever the analyte pattern is used to estimate drug habits. Firstly, the stability of free and glucuronidated 11-nor-delta9-tetrahydrocannabinol-9-carboxylic acid (THCCOOH, THCCOOglu) in authentic urine samples was investigated. Random urine samples of cannabis users (n = 38) were stored at -20, 4, and 20 degrees C up to 15 days and up to 5 days at 40 degrees C, and alterations of the analyte pattern during storage were followed by liquid chromatography-tandem mass spectrometry. Secondly, the influence of pH (range 5.0-8.0) on the stability of the analytes was studied us…
Association of low birth weight with myopic refractive error and lower visual acuity in adulthood: results from the population-based Gutenberg Health…
2017
PurposeLow birth weight (BW) is linked to impaired organ development in childhood, including altered ocular morphological and functional development. The aim of this study was to evaluate whether low BW has long-term effects on visual acuity and refraction in adulthood.MethodsThe Gutenberg Health Study is a population-based, observational cohort study in Germany, including 15 010 participants aged between 35 and 74 years. These participants were divided into three different BW groups (low: <2500 g; normal: between 2500 and 4000 g; and high: >4000 g). Best-corrected visual acuity and objective refraction were examined. We used multivariable linear regression models with adjustment for …