Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from CEP290-LCA and CEP290-JSRD patients. CEP290 protein was reduced in LCA fibroblasts with no detectable impact on cilia; however, optic cups derived...

In this paper we compare two query expansion methods in the Visual Information Retrieval (VIR) area: Probabilistic Relevance Feedback (PRF) and Local Context Analysis (LCA). The main difference observed between these methods is that while PRF assumes that annotations related to top-ranked images are relevant, LCA avoids to include terms from top-ranked non relevant images of the ranking using a...

Diagnosis of pneumococcal pneumonia is complicated by the lack of a diagnostic reference standard that is highly sensitive and specific. Latent class analysis (LCA) is a mathematical technique that relates an unobserved ("latent") infection to multiple diagnostic test results by use of a statistical model. We used classical analysis and LCA to evaluate the sensitivity and specificity of blood c...

As still evolving scientific tool LCA is a subject to a number of problems such as defining system boundaries; allocation of environmental impacts due to making more than one product in the same processes; geographical variations of processes, etc. However, the weakest methodological point in the LCA is an avoided impact. The avoided impacts in LCA occurs when disposal scenarios involve energy ...

This paper explores the robustness of materials selection decisions when using various life-cycle assessment methods. Improving the environmental performance of vehicles is a topic of growing concern met by today’s designer. One approach to this goal is through vehicle mass reduction, enabled through the implementation of a growing array of material candidates. While LCA methods are available t...

the spanish turbot aquaculture sector holds a top position in the international market. thisactivity is mainly developed along the galician coast (nw spain). this article evaluates the environmentalperformance of galician turbot aquaculture according to the life cycle assessment (lca) methodology.previously, on account of the expected relevance of feed for aquaculture, marine aquafeed productio...

OBJECTIVES/HYPOTHESIS Laryngeal adductor muscle dysfunction is a common cause of voice disorders. Reconstitution of adductor muscle function is often the target of therapy, but the effects of these muscles on voice production remain to be fully understood. This study investigated the differential roles of thyroarytenoid (TA) and lateral cricoarytenoid (LCA) muscles on voice production. STUDY ...

The effects of the secondary bile acid, lithocholic acid (LCA), a VDR, FXR and PXR ligand, on the regulation of bile acid metabolism (CYP3A isozymes), synthesis (CYP7A1), and transporter proteins (MRP3, MRP2, BSEP, NTCP) as well as nuclear receptors (FXR, PXR, LXRα, HNF1α, HNF4α and SHP) were studied in rat and human precision-cut intestine and liver slices at the mRNA level. Changes due to 5 t...

PURPOSE Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targ...

Policy makers are nowadays debating about the future electricity mixes that should be deployed. The environmental impacts of electricity generation systems is one of the central issue for this debate. Environmental impacts of electricity systems have been widely assessed over the past decades, in particular with the LCA approach. Several literature reviews have shown the large variability assoc...