Search results for "abnormal"
showing 10 items of 761 documents
[Cystic dysplasia of rete testis associated with ipsilateral renal agenesis. Case report].
2003
Cystic dysplasia of the rete testis is a rare abnormality often associated with the ipsilateral agenesis of kidney. This malformation is due to a development defect of the mesonephric duct which is the cause of both the dilation of the testicular rete testis and renal agenesis. A case of this rare malformation, showing all the peculiarities described in the medical literature, is presented. A 3 years-4 months boy was examined for an asymptomatic left scrotal mass; thus, he underwent ultrasonography, which showed a multiple tubular and cystic dilatation of left rete testis, associated with the absence of left kidney, afterward confirmed by MAG3-radionuclide scan. Diagnosis was also validated…
Intereye Spatial Relationship of Abnormal Neuroretinal Rim Locations in Glaucoma Patients from the Diagnostic Innovations in Glaucoma Study
2006
Purpose To determine the spatial relationship in neuroretinal rim parameter values between eyes in ocular hypertensives, glaucoma suspects, and glaucoma patients. Design Observational-cross-sectional study. Methods A total of 334 eyes of 167 patients were included. All patients underwent confocal scanning laser ophthalmoscopy imaging in both eyes. Intereye concordance ratio of abnormal rim sectors as classified by the Moorfield regression analysis (MRA) was calculated as the ratio of matching abnormal rim areas to the total number of abnormal rim areas. The amount of agreement was calculated for each sector separately. Results Of the right (left) eyes, 39 (39) eyes were classified “borderli…
Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy
2014
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p.Arg106 for the formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in …
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…
Specific patterns of laryngeal electromyography during wakefulness are associated to sleep disordered breathing and nocturnal stridor in multiple sys…
2016
Abstract Background Nocturnal stridor and respiratory abnormalities are important features of multiple system atrophy (MSA) with relevance to patient survival, and they are detected and evaluated mainly through video-polysomnography (video-PSG). Diurnal laryngoscopy seems to yield abnormal findings only in the presence of significant vocal cord (VC) dysfunction. Aim To assess whether specific electrophysiological patterns of diurnal EMG of VC muscles may indicate nocturnal stridor or respiratory dysfunctions in MSA patients. Materials and methods Seventeen patients with probable MSA were examined. A full-night video-PSG to collect standard breathing parameters (apnea/hypopnea index, mean Hb…
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
2010
IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) located at Xp21.3-22.1 has repeatedly been shown to be deleted in patients with a contiguous gene syndrome also affecting neighboring genes, in particular DMD (dystrophin), DAX-1 (NR0B1, nuclear receptor subfamily 0, group B, member 1), and GK (glycerol kinase). In contrast, intragenic deletions of IL1RAPL1 or other mutations or cytogenetic aberrations affecting IL1RAPL1 have only rarely been identified. Up to date, they have mostly been associated with nonspecific mental retardation (MRX). We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them bein…
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.
Decayed, missing and filled teeth and dental anomalies in long term survived leukemic children: a prospective controlled study
2011
Objective: The aim of this prospective controlled study is the comparison between long-term children survived leukaemia and a control group in terms of the decayed, missing or filled permanent teeth (DMFT) and dental anomalies. Study design: Fifty-two long term children survived leukaemia, aged from 8 to 15 years (27 females, 25 males; mean age 11.5 years) were evaluated for the possible effects of the anti-leukaemic therapy on dental development and compared to a control group of 52 healthy children (27 females, 25 males, mean age 11 years). All long-term children who survived were at least 24 months in continuous complete remission. The study of the dental status with a routine oral exami…