Search results for " and neonatal diseases and abnormalities"
showing 10 items of 344 documents
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
2004
International audience; Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, t…
A bioinformatics analysis of Lamin-A regulatory network: a perspective on epigenetic involvement in Hutchinson-Gilford progeria syndrome.
2012
Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to premature aging. HGPS is caused by mutation in the Lamin-A (LMNA) gene that leads, in affected young individuals, to the accumulation of the progerin protein, usually present only in aging differentiated cells. Bioinformatics analyses of the network of interactions of the LMNA gene and transcripts are presented. The LMNA gene network has been analyzed using the BioGRID database (http://thebiogrid.org/) and related analysis tools such as Osprey (http://biodata.mshri.on.ca/osprey/servlet/Index) and GeneMANIA ( http://genemania.org/). The network of interaction of LMNA transcripts has been further analyze…
The Role of the Unitary Prevention Delegates in the Participative Management of Occupational Risk Prevention and Its Impact on Occupational Accidents…
2020
The aim of this research was to study the impact of the unitary prevention delegates (UPDs) on the Spanish working environment. To this end, a cross-sectional study was carried out using microdata from the National Survey on Health and Safety Management in Companies (ENGE-2009) with a sample of 5147 work centres. To measure the relationship between the presence of UPD in workplaces with preventive management indicators and damage to health, individual and multiple logistic regression models were carried out, calculating the crude (cOR) and adjusted (aOR) odds ratios by sociodemographic covariates, with their corresponding 95% confidence intervals (95% CI). Ambivalent results were obtained. …
Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
2019
Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children wit…
"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.
2016
Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM). We hypothesize here that specific disease driven abnormalities in DM1 brains may result in ToM impairments. We recruited 20 DM1 patients who underwent the "Reading the Mind in th…
A re-entry tachycardia triggered by the spontaneous interruption of an atrial tachycardia.
2015
The common atrioventricular nodal re-entry tachycardia is the most common form of paroxysmal supraventricular tachycardia. It starts frequently with a supraventricular ectopic beat that, on finding the fast pathway in refractory period, travels in the slow pathway as to appear as a prolongation of the PR interval on the ECG. In this study, we show a singular case of a common atrioventricular nodal re-entry tachycardia triggered by the spontaneous interruption of an atrial tachycardia.
Using the Hemophilia Joint Health Score for assessment of children: Reliability of the Spanish version
2018
Introduction: Numerous measuring instruments for the evaluation of hemophilic arthropathy have been developed. One of the most used systems is the Hemophilia Joint Health Score (HJHS) given its sensitivity to clinical changes appearing in the joints because of recurrent hemarthrosis. Objective: Assessing the interrater reliability, using the Spanish version of the HJHS (version 2.1) in children with hemophilia. Design: Reliability study to assess the interrater reliability of the Spanish version of HJHS. Methods: A sample of 36 children aged 7–13 years diagnosed with hemophilia A or B was used. Two physiotherapists performed physical assessments with the Spanish version of the HJHS. Descrip…
Psychosocial adjustment of children with spina bifida.
1998
It was the aim of the present prospective study to investigate the influence of age, sex, intellectual function, and school type as well as of hydrocephalus, the level of lesion, and of the degree of handicap on the psychosocial adjustment of children with spina bifida. Seventy-five patients with spina bifida, aged 6 to 16 years were assessed concerning their psychosocial adjustment and their intellectual function by use of standardized instruments. The findings were compared with those of nondisabled controls, matched for age and sex. Children with spina bifida showed a tendency to be at an increased risk for psychosocial maladjustment. Influencing factors were age, sex, and the degree of…
Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondropl…
2008
Abstract Children with achondroplasia may have high cervical myelopathy from stenosis of the cranio-cervical junction resulting in neurological disability and an increased rate of sudden death. To detect myelopathy we recorded somatosensory evoked potentials after median nerve (MN) and posterior tibial nerve (PTN) stimulation in 77 patients with achondroplasia aged 0.3–17.8 years (mean 2.7 years). In addition to the conventional technique of recording the cortical components and the central conduction time (CCT) we employed non-cephalic and mastoid reference electrodes to record the subcortical waveforms N13b and P13 (MN-SEP) as well as P30 (PTN-SEP), respectively, which are generated near …
Association between the HFE mutations and longevity: a study in Sardinian population
2003
Hereditary hemochromatosis is an HLA-linked inherited disease characterised by inappropriately high absorption of iron by the gastrointestinal mucosa. The cysteine-to-tyrosine substitution at codon 282 of the HFE encoding gene sequence is responsible for the disease, although other variants, as H63D and S65C, may modify the affinity of the protein for transferrin receptors. We have recently reported that C282Y mutation is significantly increased in very old (>90 years) Sicilian women, suggesting a role in attainment of longevity. In addition, an increase of H63D polymorphism was also observed in these women but the difference was not significant. To validate and extend these results we inve…