Search results for " Anomalies"
showing 10 items of 78 documents
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…
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…
Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy
2007
Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities. Among the various congenital anomalies of the kidney and urinary tract (CAKUT), multicystic dysplastic kidney (MCDK) disease is one of the most severe expressions. Although prenatal ultrasound (US) examination has increased the prenatal diagnosis of MCDK, the pathogenesis is still unclear. We report on four cases of MCDK in infants of epileptic women treated with AEDs during pregnancy. From October 2003 to June 2006, we observed four infants with unilateral MCDK bo…
New Physics adventures in the LHC age
2017
La física de partículas está viviendo actualmente una era de exploración que comenzó con la observación en el LHC del bosón de Higgs, proporcionando así al Modelo Estándar de la Física de Partículas la elusiva pieza final que lo completa. Si bien esta teoría es extremadamente exitosa, se acepta comúnmente que no es la teoría final ya que no puede responder a todas las preguntas teóricas ni a ciertas observaciones experimentales. Por lo tanto, se espera que Nueva Física que extienda al Modelo Estándar aparezca pronto, aunque esto bien podría ser sólo una esperanza. Esta tesis recoge algunas de las aventuras en la búsqueda de Nueva Física. Se organiza en tres partes: la Parte I introduce, en …
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
2002
A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.
A skeletal Class III malocclusion with agenesis and canine-bicuspid transposition: a nonsurgical approach
2021
Abstract Background The present case report describes the orthodontic management of a patient who presented with a skeletal Class III malocclusion combined with other dental anomalies. The malocclusion was complicated by agenic maxillary lateral incisors and a lower right second premolar, in company with the transposition of the maxillary canines and premolars. Methods Dentoalveolar compensation of the anteroposterior jaw relationship was performed. The upper deciduous lateral incisors were extracted and the spaces closed, so that the first premolars replaced the missing lateral incisors while the canine transposition was maintained Results Satisfactory results were obtained which provided …
Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review
2019
AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the …
Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.
2015
Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…