Search results for " Defects"
showing 10 items of 294 documents
An assesment of body posture of children aged 3-6 years
2019
Background: A posture defect may be defined as a syndrome of abnormalities occurring in a relaxed upright position of the body. Deviations from the typical body shape are specific for given age and gender. Life determinants and social situation have a very significant impact on the development of body posture in young people. Aim of the study: The aim of the study was to analyse the occurrence of spinal defects in children aged 3–6 years. Material and methods: The study included 75 children aged 3–6 years. The children were examined for spinal defects using the MORA computer system. Results: Boys in the study showed a correlation between height and the inclination of the upper thoracic segm…
Temperature and concentration effects on supramolecular aggregation and phase behavior for poly(propylene oxide)–b-poly(ethylene oxide) –b-poly(propy…
2011
The micro- and mesoscopic structure of reverse Pluronic 25R4 in aqueous mixtures has been studied by SANS, SAXS and shear rheology. These techniques have been able to give a deep insight into the complex structure of the system phase diagram, that includes an isotropic water-rich liquid phase L(1), and liquid crystalline phases with hexagonal, E, or lamellar order, D. Particular attention has been paid to the isotropic water-rich phase L(1), which has a large stability region in the temperature-composition phase diagram. This region is crossed by a large "cloudy zone". Below it, namely at low temperature and composition, SANS data show the presence of polymer unimers in a gaussian coil conf…
Topological–chiral magnetic interactions driven by emergent orbital magnetism
2019
Two hundred years ago, Ampère discovered that electric loops in which currents of electrons are generated by a penetrating magnetic field can mutually interact. Here we show that Ampère’s observation can be transferred to the quantum realm of interactions between triangular plaquettes of spins on a lattice, where the electrical currents at the atomic scale are associated with the orbital motion of electrons in response to the non-coplanarity of neighbouring spins playing the role of a magnetic field. The resulting topological orbital moment underlies the relation of the orbital dynamics with the topology of the spin structure. We demonstrate that the interactions of the topological orbital …
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
2018
International audience; Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved. To investigate this missing heritability, we recruited 21 families with at least one family member clinically diagnosed with Robinow or Robinow-like pheno…
Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, bra…
1980
We describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digitis. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube-neural crest dysplasia with multiple secondary and tertiary manifestations and deformities.
Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings.
2008
Contains fulltext : 69485.pdf (Publisher’s version ) (Closed access) BACKGROUND: Limited success has been achieved through previous attention-deficit/hyperactivity disorder (ADHD) linkage scans, which were all designed to map genes underlying the dichotomous phenotype. The International Multi-centre ADHD Genetics (IMAGE) project performed a whole genome linkage scan specifically designed to map ADHD quantitative trait loci (QTL). METHODS: A set of 1094 single selected Caucasian ADHD nuclear families was genotyped on a highly accurate and informative single nucleotide polymorphism (SNP) panel. Two quantitative traits measuring the children's symptoms in home and school settings were collecte…
Functional annulus remodelling using a prosthetic ring in tricuspid aortic valve repair: mid-term results
2013
OBJECTIVES: The functional aortic valve annulus (FAVA) is a complex unit with proximal (aorto-ventricular junction) and distal (sinotubular junction) components. The aim of our study was to evaluate the impact of the total FAVA remodelling, using a prosthetic ring, on mid-term clinical and echocardiographic-RESULTS:-after aortic valve repair. METHODS: Since February 2003, 250 patients with tricuspid aortic valve insufficiency (AI) underwent aortic valve repair. FAVA dilatation was treated by prosthetic ring in 52 patients, by isolated subcommissural plasty in 62, by subcommissural plasty plus ascending aortic replacement in 57 and by David's reimplantation procedure in 79. Survival rate and…
A Tunable Digital Ishihara Plate for Pre-School Aged Children
2016
Colors play a fundamental role for children, both in the everyday life and in education. They recognize the surrounding world, and play games making a large use of colors. They learn letters and numbers by means of colors. As a consequence, early diagnosis of color blindness is an crucial to support an individual affected by this visual perception alteration at the initial phase of his/her life. The diagnosis of red-green color deficiencies (protanopia or deuteranopia) is commonly accomplished by means of the Ishihara test, which consists of plates showing dots with different sizes where some of them compose numbers within a gamut of colors while the ones composing the background have diffe…
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate…
2008
Contains fulltext : 70192.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a complex condition with environmental and genetic etiologies. Up to this point, research has identified genetic associations with candidate genes from known biological pathways. In order to identify novel ADHD susceptibility genes, 600,000 SNPs were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. We generated six quantitative phenotypes from 18 ADHD symptoms to be used in genome-wide association analyses. With the PBAT screening algorithm, we identified 2 SNPs, rs6565113 and rs5526…
Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.
2008
Contains fulltext : 70149.pdf (Publisher’s version ) (Closed access) A time-to-onset analysis for family-based samples was performed on the genomewide association (GWAS) data for attention deficit hyperactivity disorder (ADHD) to determine if associations exist with the age at onset of ADHD. The initial dataset consisted of 958 parent-offspring trios that were genotyped on the Perlegen 600,000 SNP array. After data cleaning procedures, 429,981 autosomal SNPs and 930 parent-offspring trios were used found suitable for use and a family-based logrank analysis was performed using that age at first ADHD symptoms as the quantitative trait of interest. No SNP achieved genome-wide significance, and…