Search results for "SHIFT"
showing 10 items of 1226 documents
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency
2001
We studied a family in which the proband, a 13-year-old boy, had unmeasurable plasma levels of coagulation factor V antigen and activity. Clinical symptoms were severe, with several episodes of haemorrhages in the mucosal tracts (gastrointestinal, nose and urinary) and recurrent haemarthroses that caused permanent arthropathy. Sequence analysis of the factor V gene demonstrated the presence of a novel 2 base pair (bp) homozygous deletion in exon 13 at positions 2833-2834. This mutation, present in the heterozygous state in the asymptomatic mother and absent in the healthy brother, introduced a frameshift and a premature stop at codon 900. This would predict the synthesis of a truncated fact…
Molecular Basis of Hereditary C1q Deficiency
1998
Abstract Complete selective deficiencies of the complement component C1q are rare genetic disorders which are associated with recurrent infections and a high prevalence of lupus erythematosus-like symptoms. The improvements in molecular biology techniques have facilitated the analysis of such genetic defects to a great extend. To date the basis of C1q deficiencies from 13 families have been studied at the genetic level. In each case single base mutations leading to either termination codons, frame shift or amino acid exchanges were thought to be responsible for these defects as no other aberrations were found. In addition to DNA analysis, conventional immunochemical and biochemical methods …
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
2012
Abstract Objectives Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). Design and methods We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood. Results In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation. Conclusions Patients with the c.614delC mu…
Sleep and alertness in shift work disorder: findings of a field study
2018
Purpose Although shift work disorder (SWD) affects a major part of the shift working population, little is known about its manifestation in real life. This observational field study aimed to provide a detailed picture of sleep and alertness among shift workers with a questionnaire-based SWD, by comparing them to shift workers without SWD during work shifts and free time. Methods SWD was determined by a questionnaire. Questionnaires and 3-week field monitoring, including sleep diaries, actigraphy, the Karolinska Sleepiness Scale (KSS), EEG-based sleep recordings, and Psychomotor Vigilance Tasks (PVT), were used to study 22 SWD cases and 9 non-SWD workers. Results The SWD group had a shorter …
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
2001
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
Effects of a Physical Activity Intervention on Physical Fitness of schoolchildren: The Enriched Sport Activity Program
2020
Background: Physical fitness in youth is a predictor of health in adulthood. The main objective of the present study was to understand if an enriched sport activity program could increase physical fitness in a population of schoolchildren. Methods: In a sample of 672 children aged 10.0 ±
Hunter disease before and during enzyme replacement therapy.
2011
Mucopolysaccharidosis type II (Hunter disease) is a lysosomal storage disease attributable to X-linked deficiency of the enzyme α-L-iduronate-sulfatase. Because of this deficiency, glycosaminoglycanes accumulate in various tissues and body fluids. We describe three patients representing the broad spectrum of Hunter disease and their response to enzyme replacement therapy. Patient 1 did not manifest central nervous system involvement, patient 2 manifested moderate neurologic disease, and patient 3 had already manifested a severe neurologic course during early infancy. In all patients, improvements in visceral organ size, physical capacity, and gastrointestinal functioning were reported. More…
The effects of different basal levels of anxiety on the behavioral shift analyzed in the central platform of the elevated plus maze.
2015
The aim of the present research was to study the effects of different basal levels of anxiety on the behavioral shift studied in the central platform of the elevated plus maze. To this purpose, quantitative and multivariate analyses, the latter based on transition matrix elaboration, were carried out on Wistar and on DA/Han rats the latter belonging to a strain characterized by different reactivity to anxiogenic stimuli. Wistar rats spent 74.11 ± 5.11 s in the central platform, whereas DA/Han significantly more: 127.08 ± 9.87. Per cent distributions evidenced a clear-cut difference in walking activities (46.25% in Wistar, 28.4% in DA/Han rats) and in the sniffing activities (45.82% in Wista…
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
The Fluid City Paradigm: a deeper innovation
2016
Waterfront regeneration needs to be disruptive: a paradigm shift and a deeper innovation of methods and tools must be set up in order to act in the changing times we live. In current global crisis, a true metamorphosis, the strong flows of financial, social and relational capitals that powered regeneration of urban waterfronts over the last twenty years are no longer available to be tapped in an indiscriminate manner as was the case until just a few years ago. The most dynamic cities in the future will no longer be those that are able to attract big projects and rich investors driven by the real estate market or leisure-based development, but the cities have deep socio-cultural diversity an…