Search results for "Anomalie"

Mortality of Children Under Five and Prevalence of Newborn Congenital Anomalies in Relation to Macroeconomic and Socioeconomic Factors in Latvia

2012

Background. Mortality of infants and children younger than 5 years is a globally recognized and broad national welfare indicator. Scientific literature has data on the correlation of mortality indicators with macroeconomic indicators. It is important to study the associations between prevalence and mortality indicators and socioeconomic factors, since deaths from congenital anomalies account for approximately 25%–30% of all deaths in infancy. The aim of the study was to analyze the overall trend in mortality of infants and young children aged 0 to 4 years in relation to macroeconomic factors in Latvia and prevalence of congenital anomalies in newborns in relation to socioeconomic factors. M…

Minor physical anomalies in children with autism spectrum disorder.

2007

Abstract Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs (n =…

Anomalous origin of all three coronary arteries from right sinus of Valsalva

2016

AbstractCongenital anomalies of the coronary arteries, although uncommon, have the potential to cause serious myocardial damage, ischemic cardiomyopathy, and sudden cardiac death. We report a rare case of origin of all three coronaries from the right sinus of Valsalva.

Depiction of anomalous coronary vessels and their relation to the great arteries by magnetic resonance angiography

2000

Three-dimensional respiratory-gated coronary MR angiography (MRA) allowed accurate analysis of the anatomy of the coronary arteries and their relation to the adjacent anatomic structures in two patients with anomalous origin and proximal course of the coronary vessels. Together with functional tests, it decisively influenced further therapy.

Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.

2008

Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…

L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…

2019

Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…

Meristic character analysis and skeletal anomalies during growth in reared sharpsnout seabream

2000

Sharpsnout seabream (Diplodus puntazzo) is a species currently reared in Mediterranean fish farms. In order to detect the main types of body deformation in sharpsnout seabream. 120 specimens (60 juveniles and 60 adults) taken from a Mediterranean hatchery were examined. In juveniles and adults non-significant differences were found in the number of vertebrae, dorsal spines and pectoral fin rays. Moreover, the number of anomalies varied with age. The juveniles presented 28 types of anomaly, the adults 25. The most important anomalies for juveniles (in terms of frequency of occurrence) were anomalous neural arch or spine (47%), anomalous hemal arch or spine (43%), fusion of hypurals (67%) and…

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

2003

Rare-earth elements and yttrium distributions in mangrove coastal water systems: The western Gulf of Thailand

2005

The concentration of rare-earth elements and yttrium (REY) was investigated in dissolved phase, suspended particulate matter, and seafloor sediments of the western coastal area of the Gulf of Thailand. The samples show Eu and Gd positive anomalies in the shale-normalized REY patterns, especially in the suspended particulate matter. On the other hand, a very high REE content was detected in the coastal waters, probably due to the weathering produced by the Mae Klong river waters on rare-earth element (REE)-rich accessory minerals coming from terrains and mineral deposits cropping out in the studied area. The shale-normalized patterns of yttrium and REE estimated for the dissolved phase show …

Investigation of tooth transposition in a non-syndromic Turkish anatolian population : characteristic features and associated dental anomalies

2009

Objective: The aims of this study were to investigate the frequency and characteristics of dental transpositions and to evaluate associated dental anomalies in a large sample of Turkish Anatolian population. Study design: A retrospective study was performed using panoramic radiographs of 6983 patients (4092 females and 2891 males) ranging in age from 12 to 27 subjected to Faculty of Dentistry at the University of Ataturk (Erzurum, Turkey) between 2005 and 2008. For each patient with tooth transposition we recorded the demographic variables (including age, sex), history of trauma, type, classification, and location of tooth transpositions, and associated dental anomalies. The Pearson chi-squ…