Search results for " Error."
showing 10 items of 1034 documents
Liver pathology in transient neonatal hyperammonemia.
1983
Ultrastructural investigations have been performed on two cases of transient neonatal hyperammonaemia (TNH). This newly recognized metabolic disorder is chiefly characterized by severe hyperammonaemia in the postnatal period, a comatous state, absence of abnormal organic aciduria, normal activity of urea cycle enzymes and, usually, complete recovery. The aetiology is presently unknown. Electron microscopy uncovered rather congruent alterations of hepatocyte structure, with a wide spectrum of mitochondrial lesions, an increase of autophagous bodies with organelle remnants, and changes in the excretory apparatus. Thus, in contrast to some of the hereditary disorders of the urea cycle, no spec…
Is hospital discharge administrative data an appropriate source of information for cancer registries purposes? Some insights from four Spanish regist…
2010
Abstract Background The use of hospital discharge administrative data (HDAD) has been recommended for automating, improving, even substituting, population-based cancer registries. The frequency of false positive and false negative cases recommends local validation. Methods The aim of this study was to detect newly diagnosed, false positive and false negative cases of cancer from hospital discharge claims, using four Spanish population-based cancer registries as the gold standard. Prostate cancer was used as a case study. Results A total of 2286 incident cases of prostate cancer registered in 2000 were used for validation. In the most sensitive algorithm (that using five diagnostic codes), e…
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
2021
Isovaleric aciduria (IVA), a metabolic disease with severe (classic IVA) or attenuated phenotype (mild IVA), is included in newborn screening (NBS) programs worldwide. The long-term clinical benefit of screened individuals, however, is still rarely investigated. A national, prospective, observational, multi-center study of individuals with confirmed IVA identified by NBS between 1998 and 2018 was conducted. Long-term clinical outcomes of 94 individuals with IVA were evaluated, representing 73.4% (for classic IVA: 92.3%) of the German NBS cohort. In classic IVA (N = 24), NBS prevented untimely death except in one individual with lethal neonatal sepsis (3.8%) but did not completely prevent si…
Clinical manifestations and management of four children with Pearson syndrome.
2011
Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease.
Force-velocity profiling in athletes: Reliability and agreement across methods
2021
The aim of the study was to examine the test-retest reliability and agreement across methods for assessing individual force-velocity (FV) profiles of the lower limbs in athletes. Using a multicenter approach, 27 male athletes completed all measurements for the main analysis, with up to 82 male and female athletes on some measurements. The athletes were tested twice before and twice after a 2- to 6-month period of regular training and sport participation. The double testing sessions were separated by ~1 week. Individual FV-profiles were acquired from incremental loading protocols in squat jump (SJ), countermovement jump (CMJ) and leg press. A force plate, linear encoder and a flight time cal…
The safety attitudes questionnaire for out-of-hours service in primary healthcare—Psychometric properties of the Croatian version
2020
The aim of the study was to assess the reliability and construct validity of the Croatian trans- lation of the Safety Attitudes Questionnaire—Ambulatory version (SAQ-AV) in the out-of- hours (OOH) primary care setting. A cross-sectional observational study using anonymous web-survey was carried out targeting a convenience sample of 358 health professionals working in the Croatian OOH primary care service. The final sample consisted of 185 questionnaires (response rate 51.7%). Psychometric properties were assessed using exploratory hierarchical factor analysis with Schmid-Leiman rotation to bifactor solution, McDonald’s ω, and Cronbach’s α. Five group factors were identified: Organization cl…
Patient centring and scan length: how inaccurate practice impacts on radiation dose in CT colonography (CTC).
2019
Objective: The aim of this study was to acknowledge errors in patients positioning in CT colonography (CTC) and their effect in radiation exposure. Materials and methods: CTC studies of a total of 199 patients coming from two different referral hospitals were retrospectively reviewed. Two parameters have been considered for the analysis: patient position in relation to gantry isocentre and scan length related to the area of interest. CTDI vol and DLP were extracted for each patient. In order to evaluate the estimated effective total dose and the dose to various organs, we used the CT-EXPO ® software version 2.2. This software provides estimates of effective dose and doses to the other vario…
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 …
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM conso…
2015
To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for …
No evidence for an association of plasma homocysteine levels and refractive error – Results from the population-based Gutenberg Health Study (GHS)
2020
Purpose There is a strong association between severe hyperhomocysteinemia and myopia. Thus we studied the hypothesis that even moderately increased levels of homocysteine (Hcy) might be a potentially treatable risk factor for myopia. Methods The Gutenberg Health Study (GHS) is a population-based, prospective, observational cohort study in Germany, including 15,010 participants aged between 35 and 74 at recruitment. The baseline examination was conducted from 2007–2012. Refraction was measured using autorefraction (HARK 599, Carl Zeiss AG, Jena, Germany). Hcy was measured by an immunoassay. We included only phakic participants without a history of corneal surgery or corneal laser treatment. …