Search results for "FRAM"
showing 10 items of 2142 documents
SARS CoV2 infection _The longevity study perspectives
2021
Graphical abstract
Optimal frame rate when there were stallion sperm motility evaluations and determinations for kinematic variables using CASA-Mot analysis in differen…
2020
This study was conducted to determine optimum image capture frame rates (FRO) when there was evaluation of different types of counting chambers used for CASA-Mot determinations of stallion sperm motility. Sperm VCL was determined at frame rates of 25-250 f/s in: 1) Spermtrack® (Spk) 10 and 20 chambers (drop displacement-type chambers 10 and 20 μm-deep respectively; and 2) ISAS®D4C10, ISAS®D4C20 (10 and 20 μm-deep respectively) and ISAS®D4C20 L (20 μm-deep) capillary loaded chambers. Values for different sperm kinematic variables were determined using each chamber at 250 f/s, which is the maximum frame rate that the software can be used for analyses. With evaluation of Spk chambers, there wa…
Incidence and risk factors of post-engraftment invasive fungal disease in adult allogeneic hematopoietic stem cell transplant recipients receiving or…
2015
Studies that analyze the epidemiology and risk factors for invasive fungal disease (IFD) after engraftment in alloSCT are few in number. This single-center retrospective study included 404 alloSCT adult recipients surviving > 40 days who engrafted and were discharged without prior IFD. All patients who received >= 20 mg/day of prednisone were assigned to primary oral prophylaxis (itraconazole or low-dose voriconazole). The primary end point was the cumulative incidence (CI) of probable/proven IFD using the European Organization for Research and Treatment of Cancer and Mycoses Study Group (EORTC/MSG) criteria. The independent prognostic factors after multivariate analyses were used to constr…
Short-Term Effects of a Combined Nutraceutical on Lipid Level, Fatty Liver Biomarkers, Hemodynamic Parameters, and Estimated Cardiovascular Disease R…
2017
Introduction: There is a growing interest in nutraceuticals improving cardiovascular risk factor levels and related organ damage. Methods: This double-blind, placebo-controlled randomized clinical trial aims to compare the effect of a combined nutraceutical containing red yeast rice (10Â mg), phytosterols (800Â mg), and l-tyrosol (5Â mg) on lipid profile, blood pressure, endothelial function, and arterial stiffness in a group of 60 patients with polygenic hypercholesterolemia resistant to Mediterranean diet. Results: After 8 weeks of treatment, when compared to the placebo group, the active treated patients experienced a more favorable percentage change in total cholesterol (â16.3% vs 9.9…
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia
2013
Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 gene product. Individuals with NF1 have a higher risk of haematological malignancies. SPRED1 is highly expressed in haematopoietic cells and negatively regulates haematopoiesis. SPRED1 seemed to be a good candidate for leukaemia predisposition or transformation. We performed SPRED1 mutation screening and expression status i…
The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.
2014
The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared …
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
2012
Background DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency induces a reduced brain size in mice, and DYRK1A overexpression is the candidate gene for intellectual disability (ID) and microcephaly in Down syndrome. We have identified a 69 kb deletion including the 5′ region of the DYRK1A gene in a patient with growth retardation, primary microcephaly, facial dysmorphism, seizures, ataxic gait, absent speech and ID. Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microd…
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
2007
Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photore…
Cost-effectiveness of optimized adherence to prevention guidelines in European patients with coronary heart disease : results from the EUROASPIRE IV …
2018
Background: This study aims to assess the cost-effectiveness of optimized guideline adherence in patients with a history of coronary heart disease. Methods: An individual-based decision tree model was developed using the SMART risk score tool which estimates the 10-year risk for recurrent vascular events in patients with manifest cardiovascular disease (CVD). Analyses were based on the EUROASPIRE IV survey. Outcomes were expressed as an incremental cost-effectiveness ratio (ICER). Results: Data from 4663 patients from 13 European countries were included in the analyses. The mean estimated 10-year risk for a recurrent vascular event decreased from 20.13% to 18.61% after optimized guideline a…
Standardization of European eel (Anguilla anguilla) sperm motility evaluation by CASA software
2013
[EN] The development of powerful computer-assisted sperm analysis software has made kinetic studies of spermatozoa possible. This system has been used and validated for several species, but some technical questions have emerged regarding fish sample evaluations (i.e., frame rate, sperm dilution, chamber model, time of analysis, magnification lens, etc.). In the present study, we have evaluated the effects of different procedural and biological settings with the aim to correctly measure sperm quality parameters of the European eel. The use of different chambers did not affect the sperm motility parameters. However, regarding lens magnification, 10x was the most accurate lens, showing the lea…