Search results for "BCA"
showing 10 items of 110 documents
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
2010
Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification; typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. Objective: We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. Methods: The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventua…
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders
2004
Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1. Two subjects found to be compound heterozygotes for ABCA1 mutations did not have overt clinical manifestations of TD. Three subjects, all with prema…
Casteldaccia eye study: prevalence of cataract in the adult and elderly population of a Mediterranean town.
1994
Prevalence of cataract was studied in a population based survey performed in adults aged 40 years or more living in Casteldaccia, a small Sicilian town. Lens opacities of moderate or severe grade (type II or worse, according to the Lens Opacity Classification System II) were found at the following rates: nuclear opalescence in 18.5%, cortical cataract in 12.9%, posterior subcapsular cataract in 10.8%. All these types of cataract were much more frequent in the elderly population and were about 1.5 times more common in women than in men. Late cataract was found in about 1/3 of subjects aged 60 to 69 years, in 2/3 of subjects aged 70 or more, but rarely under 60 years of age. However, early ca…
Lens Opacities in Valencia, Spain
2011
Purpose. To evaluate the most common lens opacities in Valencia (Spain), analyzed by gender, grade, and type of cataracts. The results are compared with other studies performed at other geographical latitudes and on different races. Methods. A total of 1951 eyes of patients diagnosed with cataracts, aged between 30 and 96 years, were evaluated in accordance with age, gender, type and degree of the cataract, bilaterality and symmetry of this disease. Lens Opacities Classification System III was used to classify the cataract and the degree was graded as mild or moderate to advanced. Results. The most common type of cataract is corticonuclear in the elderly and subcapsular in younger subjects.…
Subclinical optic neuropathy in Fabry disease.
2009
Fabry disease is a rare X-linked lysosomal storage disorder, caused by the deficiency of alpha-galactosidase A. Ophthalmic features comprise a cornea verticillata, conjunctival aneurysms, tortuous conjunctival and/or retinal vessels, and anterior and posterior subcapsular cataracts. The issue of a possible subclinical optic neuropathy in Fabry disease has been raised recently. In this pilot study, we looked for signs of optic neuropathy in our cohort of Fabry patients.Thirty-one Fabry patients (15 male, 16 female, mean age 34 years) underwent an ophthalmological investigation consisting of assessment of best corrected visual acuity, slit lamp investigation, testing of pupillary reaction, fu…
A new morphologic classification of the alveolar ridge after distraction osteogenesis in human patients. A 17 years retrospective case series study
2020
Background To perform a morphologic classification based on the results of bone augmentation after a distraction osteogenesis. Material and Methods Thirty-four (34) patients (24 women and 10 men; mean age, 47.1 years (SD=9.5); age range, 23 to 62 years) underwent a total of 42 alveolar ridge distractions before the placement of a total of 89 dental implants. Ridge bone morphology was evaluated as the main ordinal variable. Chi-squared, Kruskal-Wallis and ANOVA one-way test were used. Results Category I (30.95%): consisted of wide alveolar rim and no bone defects Category II (28.57%): wide alveolar rim, lateral bone surface concavity. Category III (23.81%): narrow alveolar rim, lateral bone …
Spectral transmission of the pig lens: Effect of ultraviolet A+B radiation
2014
Summary Objective To determine the spectral transmission curve of the crystalline lens of the pig. To analyse how this curve changes when the crystalline lens is irradiated with ultraviolet A + B radiation similar to that of the sun. To compare these results with literature data from the human crystalline lens. Procedures We used crystalline lenses of the common pig from a slaughterhouse, i.e. genetically similar pigs, fed with the same diet, and slaughtered at six months old. Spectral transmission was measured with a Perkin-Elmer Lambda 35 UV/VIS spectrometer. The lenses were irradiated using an Asahi Spectra Lax-C100 ultraviolet source, which made it possible to select the spectral emissi…
Knock-down of the oxysterol receptor LXRα impairs cholesterol efflux in human primary macrophages: lack of compensation by LXRβ activation.
2012
Liver X Receptors (LXRs) α and β are oxysterol-activated nuclear receptors involved in the control of lipid metabolism and inflammation. Pharmacological activation of LXR is promising in the treatment of atherosclerosis since it can promote cholesterol efflux from macrophages and prevent foam cell formation. However, the development of LXR agonists has been limited by undesirable side-effects such as hepatic steatosis mediated by LXRα activation. Therefore, it has been proposed that targeting LXRα activators to extrahepatic tissues or using LXRβ-specific activators could be used as alternative strategies. It is not clear whether these molecules will retain the full atheroprotective potentia…
Biological activities of Schottenol and Spinasterol, two natural phytosterols present in argan oil and in cactus pear seed oil, on murine miroglial B…
2014
International audience; The objective of this study was to evaluate the biological activities of the major phytosterols present in argan oil (AO) and in cactus seed oil (CSO) in BV2 microglial cells. Accordingly, we first determined the sterol composition of AO and CSO, showing the presence of Schottenol and Spinasterol as major sterols in AO. While in CSO, in addition to these two sterols, we found mainly another sterol, the Sitosterol. The chemical synthesis of Schottenol and Spinasterol was performed. Our results showed that these two phytosterols, as well as sterol extracts from AO or CSO, are not toxic to microglial BV2 cells. However, treatments by these phytosterols impact the mitoch…
Proliferative response of CD4+ T cells and hepatitis B virus clearance in chronic hepatitis with or without hepatitis B e-minus hepatitis B virus mut…
1995
To assess the significance of cell-mediated immunity, T cells were derived from the peripheral blood and liver tissue of hepatitis B virus (HBV)-infected patients and controls. The analysis of the 3H-thymidine-uptake in response to a panel of recombinant HBV antigens revealed that peripheral blood mononuclear cells (PBMC) of the 25 viremic patients with inflammatory active, chronic hepatitis B, 16 with wild-type and nine with HBe-minus HBV mutant infection, showed stronger proliferative responses to HBc and HBe antigens than 16 asymptomatic nonviremic HBsAg carriers with normal aminotransferase levels (HBc: SI 19.3 +/- 3.9 vs. 13.0 +/- 3.2 vs. 8.0 +/- 1.2; P.01 and HBe: SI 16.6 +/- 4.0 vs. …