Search results for "abnormal"
showing 10 items of 761 documents
Social Interactions of Dat-Het Epi-Genotypes Differing for Maternal Origins: The Development of a New Preclinical Model of Socio-Sexual Apathy
2021
Social interaction is essential for life but is impaired in many psychiatric disorders. We presently focus on rats with a truncated allele for dopamine transporter (DAT). Since heterozygous individuals possess only one non-mutant allele, epigenetic interactions may unmask latent genetic predispositions. Homogeneous “maternal” heterozygous offspring (termed MAT-HET) were born from dopamine-transporter knocked-out (DAT-KO) male rats and wild-type (WT) mothers
Segmentation et métrologie des sinus de Valsalva à partir de ciné-IRM
2012
Automatic segmentation of Valsalva sinuses from cine-MRI
Three-dimensional ultrasonography in prenatal diagnosis
1995
Within the past five years, 3D ultrasonography has developed to the degree that it offers both the patient and the examiner an entirely new visual experience in prenatal diagnosis. With the system described here (Kretz-technik, Austria), any desired plane can be displayed within the stored volume, and within seconds a high-quality 3D surface or transparent image can be calculated and displayed on the ultrasound monitor without need for an external workstation. All of this can be performed routinely in the clinical setting. Since 1989 we have routinely examined a total of 458 fetuses (242 normal and 216 with anomalies) between 16 and 38 weeks of gestation, supplementing our conventional 2D u…
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Data…
2021
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic …
DOUBLE TRANSVERSE FORAMEN IN INFANTILE CERVICAL VERTEBRAE OF THE LATE 17TH AND EARLY 18TH CENTURIES. Doble foramen transverso en las vértebras infant…
2016
La presencia de doble foramen transverso es una variante anatómica que se observa con frecuencia en el raquis cervical inferior y que presenta implicaciones clínicas en relación con la arteria vertebral. Aunque en la actualidad existe cierta controversia acerca de si el origen de esta variante cervical es congénito o adquirido, y a pesar de que la presencia de doble foramen transverso en población infantil descartaría un origen degenerativo-artrósico, se encuentra una falta de información acerca de su presencia en vértebras cervicales infantiles. En este sentido, nuestro objetivo ha sido analizar la presencia de doble foramen transverso en vértebras cervicales infantiles procedentes de rest…
Rare chromosomal abnormalities: a mosaic of four cellular lines with two rings involving the chromosomes X and 21. First report in a male newborn pat…
2005
Does Hysteroscopic Dissection of Partial Uterine Septum Represent a Risk Factor for Placental Abnormalities in Subsequent Pregnancy Compared with Con…
2022
Background: Hysteroscopic septum dissection (HSD) is thought to improve fertility and pregnancy outcomes. However, the available literature suggests that uterine surgery can cause placental abnormalities in subsequent pregnancies. Methods: A case–control study was performed at the University Medical Center of Ljubljana, Department of Human Reproduction, from 1 January 2016 to 31 December 2018. The primary outcome was the association between HSD and the occurrence of placental abnormalities. We included women who underwent HSD due to infertility. Age-matched women who underwent hysteroscopic surgery for other issues were considered as controls. In addition, we divided the groups according to…
Impact of Fragile X Syndrome on Their Families
2020
espanolEl objetivo del presente estudio es describir las alteraciones conductuales y emocionales en el sindrome de X fragil (SXF) y analizar las reperecusiones de tener un miembro con SXF en diferentes aspectos del funcionamiento familiar. Participaron 79 padres con un miembro con SXF y 80 padres con un miembro con desarrollo tipico. Los resultados mostraron que entre el 17% y el 66% de los ninos y adolescentes con SXF mostraron trastornos conductuales y emocionales significativos y menos comportamientos prosociales. Ademas, despues de controlar las dificultades emocionales y de comportamiento, nuestros resultados mostraron que las familias afectadas por SXF experimentaron un impacto mas ne…
"Table 3" of "Cross-sections and leptonic forward-backward asymmetries from the Z0 running of LEP."
2000
Hadronic cross section measured with the 1995 data. Additional systematic error of 0.10 PCT (efficiencies and backgrounds) and 0.11 PCT (absolute luminosity).
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.
2004
Glycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II and ML III patients cannot properly degrade heparan sulphate (HS). In spite of the importance of HS storage in the metabolic pathway in these diseases, blood and urine HS levels have not been determined systematically using a simple and economical method. Using a new ELISA method using anti-HS antibodies, HS concentrations in blood and urine were determined in MPS and ML II and ML III patients. HS concentrations were determined in 156 plasma samples from MPS I (n = 23), MPS II (n = 26), MPS III (n = 24), MPS IV (n = 62), MPS VI (n = 5), MPS VII (n = 5), ML II (n = …