Search results for " Anomalies"

Congenital anomalies among live births in a high environmental risk area—A case-control study in Brindisi (southern Italy)

2013

Maternal exposure to ambient pollution has been increasingly linked to the risk of congenital anomalies (CAs) in the fetus and newborns. Recently, a descriptive study in the high environmental risk city of Brindisi (Italy) revealed an increased prevalence of total CAs, especially congenital heart disease (CHD) and ventricular septal defects (VSDs), both at the local level and in comparison with the pool of EUROCAT registries. This paper concerns a population-based case control study to investigate the association between maternal exposure to air pollutants - sulfur dioxide (SO2) and total suspended particulate (TSP) matter - and the risk of CA. Cases were newborns up to 28 days of age, born…

Coronary Artery Fistula in Down Syndrome: A Hidden Association

2017

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

Adiabatic expansions for Dirac fields, renormalization, and anomalies

2018

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LONG GAP ESOPHAGEAL ATRESIA AND ASSOCIATED ANOMALIES ATRESIA ESOFAGEA “LONG GAP” ED ANOMALIE ASSOCIATE

2004

Patients with long gap esophageal atresia are often managed with gastrostomy and tube drainage of the proximal pouch, despite the high risk of aspiration and nosocomial infections. Long gap esophageal atresia has been reported in the presence of congenital anomalies, most often within the spectrum of the VACTERL association. We report on three preterm newborns in whom the association of long gap esophageal atresia, prematurity and congenital anomalies led to a significant reduction of the patients' life span, amplifying many clinical problems. Patients with long gap esophageal atresia are often managed with gastrostomy and tube drainage of the proximal pouch, despite the high risk of aspira…

Enhanced volcanic hot-spot detection using MODIS IR data: results from the MIROVA system

2015

We describe a new volcanic hotspot detection system, named Middle InfraRed Observation of Volcanic Activity (MIROVA), based on the analysis of infrared data acquired by the Moderate Resolution Imaging Spectroradiometer sensor (MODIS). MIROVA uses the middle infrared radiation (MIR), measured by MODIS, in order to detect and measure the heat radiation deriving from volcanic activity. The algorithm combines spectral and spatial principles, allowing the detection of heat sources from 1 megawatt (MW) to more than 10 gigawatt (GW). This provides a unique opportunity to: (i) recognize small-scale variations in thermal output that may precede the onset of effusive activity; (ii) track the advance …

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

2019

IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…

Carotid artery stenting with contralateral carotid occlusion in a rare aortic arch configuration

2010

We present the case of a 47-year-old man admitted to our department with an episode of aphasia. Duplex scan showed an occluded right internal carotid artery and severe left internal carotid artery stenosis. Contrast-enhanced computer tomography demonstrated a common trunk for both common carotid arteries anterior to the trachea and aberrant right subclavian artery posterior to the esophagus. The patient was considered to be a high risk for carotid endarterectomy and, consequently, we performed stenting of the left carotid artery. To our knowledge, this is the first case reporting the combination of these two aortic arch anomalies and the concomitant endovascular treatment of atherosclerotic…

Prevalence of coronary artery intramyocardial course in a large population of clinical patients detected by multislice computed tomography coronary a…

2008

Background: Intramyocardial course, an inborn coronary anomaly, is defined as a segment of a major epicardial coronary artery that runs intramurally through the myocardium; in particular, we distinguish myocardial bridging, in which the vessel returns to an epicardial position after the muscle bridge, and intramyocardial course, which is described as a vessel running and ending in the myocardium. Purpose: To evaluate the prevalence of myocardial bridging and intramyocardial course of coronary arteries as defined by multidetector computed tomography (MDCT) angiography. Material and Methods: The study population consisted of 242 consecutive patients (211 men, 31 women; mean age 59±6 years) w…

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sul…

2022

Abstract Background Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. Patient presentation We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomitin…