Search results for "report"
showing 10 items of 2364 documents
Conditional transgenic mouse models: from the basics to genome-wide sets of knockouts and current studies of tissue regeneration
2008
Many mouse models are currently available, providing avenues to elucidate gene function and to recapitulate specific pathological conditions. To a large extent, successful translation of clinical evidence or analytical data into appropriate mouse models is possible through progress in transgenic or gene-targeting technology. Beginning with a review of standard mouse transgenics and conventional gene targeting, this article will move on to discussing the basics of conditional gene expression: the tetracycline (tet)-off and tet-on systems based on the transactivators tet-controlled transactivator (Tta) and reverse tet-on transactivator (rtTA) that allow downregulation or induction of gene exp…
Quantitative real-time PCR with SYBR Green detection to assess gene duplication in insects: study of gene dosage in Drosophila melanogaster (Diptera)…
2011
Abstract Background The accurate determination of the number of copies of a gene in the genome (gene dosage) is essential for a number of genetic analyses. Quantitative real time PCR (qPCR) with TaqMan detection has shown advantages over traditional Southern-blot and FISH techniques, however the high costs of the required labeled probes is an important limitation of this method. qPCR with SYBR Green I detection is a simple and inexpensive alternative, but it has never been applied to the determination of the copy number of low copy number genes in organisms with high allelic variability (as some insects), where a very small margin of error is essential. Findings We have tested the suitabili…
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
2010
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite their family history being compatible with AD inheritance. A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42. In this study, we screened 220 independent SPAST mutation-negative ADHSP samples for mutations in the SLC33A1 gene by high-resolution melting curve analysis. Conspicuous samples were validated by direct sequencing. Moreover, copy number variations affecting SLC33A1 were screened by …
Differential diagnosis problems in a patient with dysphonia and chronic lymphocytic leukemia
2014
SUMMARY Dysphonia is frequently an expression of laryngitis, especially when it comes in the evolution of an immunosuppressed patient, as happens in chronic lymphoproliferation. But other causes of dysphonia should also not be forgotten, including the possibility of new malignancies, especially due to the fact that these patients have genomic instability that predisposes to appearance of a second or even a third cancer. We present the case of a patient who developed dysphonia during chronic lymphocytic leukemia evolution. Its etiology was a mediastinal compression through lymph nodes, not linked to leukemia, but produced by metastases of a bronchopulmonary cancer, appeared recently. Dysphon…
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
2013
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarg…
Financial institutions’ risk profile and contribution to the sustainable development goals
2021
This study analyses the impact of Spanish financial institutions’ risk profile on their contribution to the 2030 Agenda. Financial institutions play a significant role in ensuring financial inclusion and sustainable economic growth and usually incorporate environmental and social considerations into their risk management systems. The results show that financial institutions with less capital risk, with lower management efficiency and with higher market risk usually make higher contributions to the Sustainable Development Goals (SDGs), according to their sustainability reports. The novel aspect of the present study is that it identifies the risk profile of financial institutions that incorpo…
The Association Between Physical Activity and Cataracts Among 17,777 People Aged 15-69 Years Residing in Spain.
2020
Purpose: The aim of the present study was to assess the association between levels of physical activity (PA) and the presence of cataracts in people aged 15–69 years residing in Spain. Methods: Cross-sectional data from the Spanish National Health Survey 2017 were analysed (n = 17,777 ≥ 15 years; 52% females; self-weighting sample). The International Physical Activity Questionnaire (IPAQ) short form was used to measure PA. Total PA MET-minutes/week were calculated, and participants were divided into two categories: 1) Less than 600 MET-minutes/week. 2) At least 600 MET-minutes/week, equivalent to meeting current PA recommendations. Cataracts were self-reported in response to the question “H…
Active commuting and sociodemographic factors among university students in Spain.
2014
Background:Commuting to university represents an opportunity to incorporate physical activity (walking or biking) into students’ daily routines. There are few studies that analyze patterns of transport in university populations. This cross-sectional study estimated energy expenditure from active commuting to university (ACU) and examined sociodemographic differences in findings.Methods:The sample included 518 students with a mean age of 22.4 years (59.7% female) from 2 urban universities in Valencia, Spain. Time spent in each mode of transport to university and sociodemographic factors was assessed by self-report.Results:Nearly 35% of the students reported walking or biking as their main mo…
Nutritional screening of patients at a memory clinic--association between patients' and their relatives' self-reports.
2015
Aims and objectives To compare individual reports by patients and relatives (proxy) of the Nutritional Form For the Elderly and relate the Nutritional Form For the Elderly scores to Mini Mental Status Examination scores, weight loss, Body Mass Index, five-point Clock Drawing Test and background variables. Background Undernutrition or risk of undernutrition is a significant problem among people with dementia. A poor nutritional state increases the risk of infections, delayed convalescence after acute illness and reduced quality of life. Design A cross-sectional study. Method Application of the Nutritional Form For the Elderly in addition to clinical nutrition parameters and cognitive tests i…