Search results for "Axia"
showing 10 items of 638 documents
Acute and reversible Pisa syndrome as unusual presentation of portosystemic encephalopathy
2020
Abstract We present the first case of acute and reversible Pisa Syndrome, as a clinical manifestation of a portosystemic encephalopathy bout occurring in a patient affected with cirrhosis and clinical-radiological signs of acquired hepatocerebral degeneration, without exposure to psychotropic medications. A 62 year-old man suffering from cirrhosis was admitted to our hospital for sudden onset of mild confusion and postural change. He was observed walking and standing with a tilt toward the right during the last two hours. On neurological examination, he showed bilateral asterixis and extrapyramidal signs. Clinical diagnosis of Pisa Syndrome was made in a setting of raised serum ammonia. A b…
Influence of column shear failure on pushover based assessment of masonry infilled reinforced concrete framed structures: A case study
2017
Structural frames, constructed either of steel or reinforced concrete (RC), are often infilled with masonry panels. However, during the analysis of the structural frames, it has become common practice to disregard the existence of infills because of the complexity in modeling. This omission should not be allowed because the two contributions (of infills and of frames) complement each other in providing a so different structural system. The use of different modeling assumptions significantly affects the capacity as well as the inelastic demand and safety assessment. In specific, the adoption of equivalent diagonal pin-jointed struts leaves open the problem of the evaluation of the additional…
Photoionization of adsorbates on sites with non-axial local symmetry. An example of the symmetry group
1996
We present an analysis of the influence of the local adsorption site symmetry on the angular distribution of photoelectrons ejected from adsorbed atoms or molecules. This analysis applies to photoelectron spectra obtained with photons of any energy in the VUV (photoelectron spectroscopy) or x-ray (XPS) regions, provided that the associated wave of the electron `sees' the neighbouring surface atoms. The adsorbate - substrate system is modelled by a cluster of symmetry group consisting of an adsorbate and several atoms of the substrate. The analysis applies also to clean surfaces of symmetry and to molecules of the symmetry group fixed in space. This local symmetry analysis is an alternative …
Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition
2017
AbstractPurpose: Despite advances in multimodal therapy, neuroblastomas with hemizygous deletion in chromosome 11q (20%–30%) undergo consecutive recurrences with poor outcome. We hypothesized that patients with 11q-loss may share a druggable molecular target(s) that can be exploited for a precision medicine strategy to improve treatment outcome.Experimental Design: SNP arrays were combined with next-generation sequencing (NGS) to precisely define the deleted region in 17 primary 11q-loss neuroblastomas and identify allelic variants in genes relevant for neuroblastoma etiology. We assessed PARP inhibitor olaparib in combination with other chemotherapy medications using both in vitro and in v…
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions
2017
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats. To examine the apparent contradiction of unstable, interruption-positive SCA10 e…
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
2016
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmo…
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
2021
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cogni…
A combined therapy for limb apraxia and related anosognosia.
2019
Left hemisphere stroke frequently leads to limb apraxia, a disorder that has been reported to impact independence in daily life and rehabilitation success. Nonetheless, there is a shortcoming in research and availability of applicable trainings. Further, to date, anosognosia for limb apraxia has largely been neglected. Therefore, we developed a Naturalistic Action Therapy that trains object selection and application with an errorless learning approach and which includes supported self-evaluation. The current study presents the results of two stroke patients participating in the training. The procedure entailed two baseline and one post-training sessions including standardized limb apraxia a…
Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.
2011
11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204
Self-reported fitness and objectively measured physical activity profile among older adults : a twin study
2018
Abstract Background Maintaining good fitness and good level of physical activity are important factors for maintaining physical independence later in life. The aim was to investigate the relationship between self-reported fitness and objectively measured physical activity and sedentary behavior in the elderly. Methods Same-sex twin pairs born 1940–1944 in Finland were invited to the study. Altogether 787 individuals (mean age 72.9 years), of whom 404 were female, used a hip-worn triaxial accelerometer for at least 4 days and answered a question on perceived fitness. First, individual differences were studied between four fitness categories. Second, pairwise differences were examined among t…