Search results for "Anomalie"

Odontomas are associated with impacted permanent teeth in orthodontic patients

2019

Background Odontomas are the most frequent odontogenic tumors in the oral cavity and can result in failure of eruption of permanent teeth or be associated with impacted teeth. Material and Methods The present study evaluated the prevalence of complex and compound odontomas in non-syndromic patients prior to the onset of orthodontic treatment. Panoramic radiographs of 4,267 non-syndromic patients were evaluated; 22 cases were included being 54.5% complex and 45.4% compound odontomas. Results The sample was composed predominantly by White males with mean age of 14.5 years. Complex odontomas were commonly found in the maxilla (83.3%) while compound type was mostly located on mandible (60%), pr…

Coronary artery anomalies: incidence, pathophysiology, clinical relevance and role of diagnostic imaging

2006

Conventional coronary angiography is the gold standard for the diagnosis of coronary artery anomalies. Coronary anomalies are relatively rare findings in patients undergoing conventional coronary angiography for suspected obstructive coronary artery disease. Recently, the increasing performance of diagnostic techniques, such as electron beam tomography (EBT), magnetic resonance (MR) and, more recently, multislice computed tomography (MSCT), has enabled their application to cardiac imaging. MSCT, in particular, has a prominent role in coronary imaging due to its spatial and temporal resolution and three-dimensional capabilities. We report the incidence and pathophysiology of coronary artery …

Automatic detection of thermal anomalies in induction motors

2021

The paper proposes a methodology based on Artificial Intelligence techniques for the automatic detection of abnormal thermal distributions in electric motors, to rapidly identify pre-faults or fault conditions. The proposed approach, applied to induction motors of different sizes, installed in waterworks plants, is based on the execution of Thermographic Non-Destructive Tests, which allow identifying abnormal operating conditions without interrupting the ordinary working conditions of the system. Thermographic images of induction motors are acquired at the installation site and with perspectives visible to the operator, which are sometimes partially obstructed. These thermographic images ar…

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

2020

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…

Paper 6: EUROCAT member registries: organization and activities.

2011

BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…

Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability

2013

Intellectual disability (ID) corresponds to abnormal intellectual performances and adaptive functions, beginning in childhood. It is estimated that 2-3% of individuals develop a ID, which represents a significant medical challenge since people with ID are frequently in situations of social dependence. Overall, a critical involvement of genetic factors in this disease is suspected. To date, several hundreds of genes are known to be responsible for ID. The ID is particularly characterized by extreme clinical and genetic heterogeneity, that made it resistant to conventional genetic studies. However, it is classicaly separated between syndromic ID, which may be clinically recognizable due to as…

Magma extrusion during the Ubinas 2013-2014 eruptive crisis based on satellite thermal imaging (MIROVA) and ground-based monitoring

2015

After 3 years of mild gases emissions, the Ubinas volcano entered in a new eruptive phase on September 2nd, 2013. The MIROVA system (a space-based volcanic hot-spot detection system), allowed us to detect in near real time the thermal emissions associated with the eruption and provided early evidence of magma extrusion within the deep summit crater. By combining IR data with plume height, sulfur emissions, hot spring temperatures and seismic activity, we interpret the thermal output detected over Ubinas in terms of extrusion rates associated to the eruption. We suggest that the 2013–2014 eruptive crisis can be subdivided into three main phases: (i) shallow magma intrusion inside the edifice…

Meristic variation and skeletal anomalies of wild and reared sharpsnout seabream juveniles (Diplodus puntazzo , Cetti 1777) off coastal Sicily, Medit…

2003

The impact of genetic diseases on neonatal and pediatric care

2019

The impact of genetic diseases on the pediatric population in clinical practice is remarkable and their prevalence has rapidly increased in the last 50 years. A wide diffusion of modern diagnostic techniques has implemented early diagnosis and consequently the precocious start of effective support therapies which have determined an increased survival rate and quality of life. The percentage of genetics anomalies in children hospitalized is really high and amounts to at least 50% of hospital pediatric admissions. Over 5% of stillborn babies, without other known causes, have genetic disorders, and it goes up to 50% in the case of visible malformations.

Major Congenital Anomalies in Babies Born With Down Syndrome

2014

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven m…