Search results for "Linkage"
showing 10 items of 363 documents
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p
2000
We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511–518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included “butterfly” vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidney…
Is global elimination of HCV realistic?
2017
The elimination of hepatitis C virus (HCV) has been made possible through the availability of new antiviral drugs which may now be administered to all patients with HCV infection, even those with decompensated cirrhosis. The goal of the World Health Organization (WHO) is to reduce the incidence of chronic hepatitis infection from the current 6-10 million to 0.9 million cases of chronic infections by 2030, and annual deaths from 1.4 million to fewer than 0.5 million. Achieving these targets will require full implementation of epidemiological knowledge of HCV infection, screening and testing practices and strategies to link HCV patients to care. This review will focus on the current state of …
Epidemiology of retinitis pigmentosa in the valencian community (Spain)
1995
The purposes of this study are to determine the frequencies of the different genetic forms of retinitis pigmentosa and to perform segregation analysis in the different genetic subtypes. Retinitis pigmentosa was diagnosed in 263 persons from 132 families. The frequency of the autosomal recessive type was the highest (31.8%) while the X-linked type was very rare (1.5%). The frequency of autosomal dominant type was 14.4% and the simplex cases constituted half of the total cases of RP registered in our community. In conclusion, in our population the high proportion of simplex cases and the low number of X-linked families are noticeable. The result of segregation analysis showed good agreement w…
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.
2003
Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD). New insights into the pathophysiology of the dystrophic muscle, the identification of compensatory mechanisms and additional proteins interacting with dystrophin are essential for developing new treatments. In order to define molecular mechanisms induced by lack of dystrophin and the subsequent counter-regulatory transcriptional response of degenerating muscle fibres, we have investigated the mRNA expression of 19 functionally linked genes in biopsies of patients with MD by m…
Analysis of HLA-DRB1,DQA1,DQB1 haplotypes in Sardinian centenarians
2008
Some genetic determinants of longevity might reside in those polymorphisms for the immune system genes that regulate immune responses. Many longevity association studies focused their attention on HLA (the human MHC) polymorphisms, but discordant results have been obtained. Sardinians are a relatively isolate population and represent a suitable population for association studies. Some HLA-DR and DQ alleles form very stable haplotypes with a strong linkage disequilibrium. In a previous study on Sardinian centenarians we have suggested that HLA-DRB1 *15 allele might be marginally associated to longevity. HLA-DR,DQ haplotypes are in strong linkage disequilibrium and well conserved playing a ro…
Water-borne polymeric nanoparticles for glutathione-mediated intracellular delivery of anticancer drugs
2013
A new family of water-borne, biocompatible and carboxyl- functionalized nanogels was developed for glutathione- mediated delivery of anticancer drugs. Poly(N-vinyl- pyrrolidone)-co-acrylic acid nanogels were generated by e- beam irradiation of aqueous solutions of a crosslinkable polymer, using industrial-type linear accelerators and set- ups. Nanogels physico-chemical properties and colloidal stability, in a wide pH range, were investigated. In vitro cell studies proved that the nanogels are fully biocompatible and able to quantitatively bypass cellular membrane. An anticancer drug, doxorubicin (DOX), was linked to the carboxyl groups of NGs through a spacer containing a disulphide cleavab…
Unique Problems Require Unique Solutions—Models and Problems of Linking School Effectiveness and School Improvement
2022
The article aims to outline the proposals for linking school effectiveness research and school improvement that are currently relevant in international discussion and to ask how they deal with the ‘technology deficit’ at the level of model improvement. We will first show the difference between school improvement and school effectiveness. Then, we outline areas showing basic problems associated with linking school effectiveness and school improvement. After that, we present a summary of two relevant models for linking school effectiveness research and school improvement—Comprehensive Framework of Effective School Improvement and Dynamic Model of Educational Effectiveness&md…
SparseHC: A Memory-efficient Online Hierarchical Clustering Algorithm
2014
Computing a hierarchical clustering of objects from a pairwise distance matrix is an important algorithmic kernel in computational science. Since the storage of this matrix requires quadratic space with respect to the number of objects, the design of memory-efficient approaches is of high importance to this research area. In this paper, we address this problem by presenting a memory-efficient online hierarchical clustering algorithm called SparseHC. SparseHC scans a sorted and possibly sparse distance matrix chunk-by-chunk. Meanwhile, a dendrogram is built by merging cluster pairs as and when the distance between them is determined to be the smallest among all remaining cluster pairs. The k…
Fish introductions and light modulate food web fluxes in tropical streams : a whole-ecosystem experimental approach
2016
Decades of ecological study have demonstrated the importance of top-down and bottom-up controls on food webs, yet few studies within this context have quantified the magnitude of energy and material fluxes at the whole-ecosystem scale. We examined top-down and bottom-up effects on food web fluxes using a field experiment that manipulated the presence of a consumer, the Trinidadian guppy Poecilia reticulata, and the production of basal resources by thinning the riparian forest canopy to increase incident light. To gauge the effects of these reach-scale manipulations on food web fluxes, we used a nitrogen (15N) stable isotope tracer to compare basal resource treatments (thinned canopy vs. con…
Sympathetic nervous system synchrony between participants of couple therapy
2017
Synchrony, or the moment-by-moment coordination between people in social situations, has been connected with increased liking and rapport. However, this type of synchrony is an underexplored area with regard to autonomic nervous system activity. The purpose of this research was to study physiological synchrony between participants in couple therapy by focusing on the sympathetic nervous system (SNS), which reflects arousal and emotional reactions. The data comprised 12 couple therapy cases (24 clients, 10 therapists) participating in the Relational Mind in Events of Change in Multiactor Therapeutic Dialogues (2013-2016) research project. Electrodermal activity (EDA) and heart rate were reco…